From 00ed5db2f47c2fda755a2a495e12fc178ef7976b Mon Sep 17 00:00:00 2001 From: Joe Flack Date: Tue, 26 Nov 2024 22:18:45 -0500 Subject: [PATCH] Remove GARD (#681) * Remove GARD Remove GARD as non-EMC source - ODK setup: metadata/gard.yml & mondo-ingest-odk.yaml - Specific files: docs, outputs, and intermediaries. - Refs within files: mondo-ingest.Makefile, gitignore, mkdocs.yml, Makefile (after running update_repo) * Re-ran update_repo after merging develop --- .gitignore | 3 - docs/odk-workflows/RepositoryFileStructure.md | 1 - docs/reports/mapped_deprecated_gard.md | 7 - docs/reports/migrate_gard.md | 9377 -- docs/reports/unmapped_gard.md | 12010 -- docs/sources/gard.md | 18 - mkdocs.yaml | 2 - src/ontology/Makefile | 18 +- src/ontology/config/gard_exclusions.tsv | 1 - src/ontology/metadata/gard.yml | 12 - src/ontology/mondo-ingest-odk.yaml | 2 - src/ontology/mondo-ingest.Makefile | 5 - .../reports/component_signature-gard.tsv | 12005 -- .../gard_excluded_terms_in_mondo_xrefs.tsv | 1 - ..._excluded_terms_in_mondo_xrefs_summary.tsv | 2 - .../gard_exclusion_reasons.robot.template.tsv | 2 - ...mapped_deprecated_terms.robot.template.tsv | 2 - src/ontology/reports/gard_mapping_status.tsv | 12005 -- src/ontology/reports/gard_term_exclusions.txt | 0 src/ontology/reports/gard_unmapped_terms.tsv | 12005 -- .../reports/mirror_signature-gard.tsv | 12005 -- src/ontology/slurp/gard.tsv | 9372 -- src/ontology/unmapped/gard-unmapped.owl | 98874 ---------------- src/sparql/gard-relevant-signature.sparql | 6 - 24 files changed, 2 insertions(+), 177733 deletions(-) delete mode 100644 docs/reports/mapped_deprecated_gard.md delete mode 100644 docs/reports/migrate_gard.md delete mode 100644 docs/reports/unmapped_gard.md delete mode 100644 docs/sources/gard.md delete mode 100644 src/ontology/config/gard_exclusions.tsv delete mode 100644 src/ontology/metadata/gard.yml delete mode 100644 src/ontology/reports/component_signature-gard.tsv delete mode 100644 src/ontology/reports/gard_excluded_terms_in_mondo_xrefs.tsv delete mode 100644 src/ontology/reports/gard_excluded_terms_in_mondo_xrefs_summary.tsv delete mode 100644 src/ontology/reports/gard_exclusion_reasons.robot.template.tsv delete mode 100644 src/ontology/reports/gard_mapped_deprecated_terms.robot.template.tsv delete mode 100644 src/ontology/reports/gard_mapping_status.tsv delete mode 100644 src/ontology/reports/gard_term_exclusions.txt delete mode 100644 src/ontology/reports/gard_unmapped_terms.tsv delete mode 100644 src/ontology/reports/mirror_signature-gard.tsv delete mode 100644 src/ontology/slurp/gard.tsv delete mode 100644 src/ontology/unmapped/gard-unmapped.owl delete mode 100644 src/sparql/gard-relevant-signature.sparql diff --git a/.gitignore b/.gitignore index 10d74892..9ccc9b05 100644 --- a/.gitignore +++ b/.gitignore @@ -108,7 +108,4 @@ src/scripts/mondo_unmapped.tsv tests/output/* !tests/output/.gitkeep src/scripts/dataframes/* -src/ontology/reports/gard.subclass.added-obsolete.robot.tsv -src/ontology/reports/gard.subclass.added.robot.tsv -src/ontology/reports/gard.subclass.confirmed.robot.tsv src/ontology/reports/basic-report.tsv diff --git a/docs/odk-workflows/RepositoryFileStructure.md b/docs/odk-workflows/RepositoryFileStructure.md index 1a836825..e3304640 100644 --- a/docs/odk-workflows/RepositoryFileStructure.md +++ b/docs/odk-workflows/RepositoryFileStructure.md @@ -31,7 +31,6 @@ These are the components in MONDO-INGEST | Filename | URL | | -------- | --- | | doid.owl | http://purl.obolibrary.org/obo/doid.owl | -| gard.owl | https://github.com/monarch-initiative/gard/releases/latest/download/gard.owl | | icd10cm.owl | https://data.bioontology.org/ontologies/ICD10CM/submissions/23/download?apikey=8b5b7825-538d-40e0-9e9e-5ab9274a9aeb | | icd10who.owl | https://github.com/monarch-initiative/icd10who/releases/latest/download/icd10who.ttl | | icd11foundation.owl | https://github.com/monarch-initiative/icd11/releases/latest/download/icd11foundation.owl | diff --git a/docs/reports/mapped_deprecated_gard.md b/docs/reports/mapped_deprecated_gard.md deleted file mode 100644 index fd64bcfb..00000000 --- a/docs/reports/mapped_deprecated_gard.md +++ /dev/null @@ -1,7 +0,0 @@ -## GARD -[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/gard_mapped_deprecated_terms.robot.template.tsv) - -### Mapped deprecated terms -| mondo_id | source_id | source | -|:-----------|:---------------------|:-------------------| -| ID | A oboInOwl:hasDbXref | >A oboInOwl:source | \ No newline at end of file diff --git a/docs/reports/migrate_gard.md b/docs/reports/migrate_gard.md deleted file mode 100644 index c8dd9de6..00000000 --- a/docs/reports/migrate_gard.md +++ /dev/null @@ -1,9377 +0,0 @@ -## GARD -[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/gard.tsv) - -### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | -|:--------------|:------------------------------------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:------------------------------------------------------------------------------------------------------------------------------------|:--------------|:----------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | -| MONDO:0860072 | gracile syndrome | GARD:1 | MONDO:equivalentTo | GRACILE syndrome | | | -| MONDO:0860073 | spinocerebellar ataxia with axonal neuropathy type 1 | GARD:10000 | MONDO:equivalentTo | Spinocerebellar ataxia with axonal neuropathy type 1 | | | -| MONDO:0860074 | congenital chloride diarrhea | GARD:10001 | MONDO:equivalentTo | Congenital chloride diarrhea | | | -| MONDO:0860075 | familial progressive cardiac conduction defect | GARD:10005 | MONDO:equivalentTo | Familial progressive cardiac conduction defect | | | -| MONDO:0860076 | opsoclonus-myoclonus syndrome | GARD:10009 | MONDO:equivalentTo | Opsoclonus-myoclonus syndrome | | | -| MONDO:0860077 | self-improving dystrophic epidermolysis bullosa | GARD:10010 | MONDO:equivalentTo | Self-improving dystrophic epidermolysis bullosa | | | -| MONDO:0860078 | agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome | GARD:10011 | MONDO:equivalentTo | Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome | | | -| MONDO:0860079 | camptodactyly-tall stature-scoliosis-hearing loss syndrome | GARD:10012 | MONDO:equivalentTo | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | | | -| MONDO:0860080 | pellagra | GARD:10014 | MONDO:equivalentTo | Pellagra | | | -| MONDO:0860081 | fuchs endothelial corneal dystrophy | GARD:10018 | MONDO:equivalentTo | Fuchs endothelial corneal dystrophy | | | -| MONDO:0860082 | x-linked mandibulofacial dysostosis | GARD:1002 | MONDO:equivalentTo | X-linked mandibulofacial dysostosis | | | -| MONDO:0860083 | anterior segment developmental anomaly | GARD:10025 | MONDO:equivalentTo | Anterior segment developmental anomaly | | | -| MONDO:0860084 | campomelic dysplasia | GARD:10027 | MONDO:equivalentTo | Campomelic dysplasia | | | -| MONDO:0860085 | benign recurrent intrahepatic cholestasis type 1 | GARD:10028 | MONDO:equivalentTo | Benign recurrent intrahepatic cholestasis type 1 | | | -| MONDO:0860086 | benign recurrent intrahepatic cholestasis type 2 | GARD:10029 | MONDO:equivalentTo | Benign recurrent intrahepatic cholestasis type 2 | | | -| MONDO:0860087 | congenital trigeminal anesthesia | GARD:10034 | MONDO:equivalentTo | Congenital trigeminal anesthesia | | | -| MONDO:0860088 | familial encephalopathy with neuroserpin inclusion bodies | GARD:10037 | MONDO:equivalentTo | Familial encephalopathy with neuroserpin inclusion bodies | | | -| MONDO:0860089 | hydroxykynureninuria | GARD:10039 | MONDO:equivalentTo | Hydroxykynureninuria | | | -| MONDO:0860090 | burn-mckeown syndrome | GARD:10041 | MONDO:equivalentTo | Burn-McKeown syndrome | | | -| MONDO:0860091 | congenital bile acid synthesis defect type 2 | GARD:10045 | MONDO:equivalentTo | Congenital bile acid synthesis defect type 2 | | | -| MONDO:0860092 | congenital bile acid synthesis defect type 4 | GARD:10046 | MONDO:equivalentTo | Congenital bile acid synthesis defect type 4 | | | -| MONDO:0860093 | glutathione synthetase deficiency | GARD:10047 | MONDO:equivalentTo | Glutathione synthetase deficiency | | | -| MONDO:0860094 | isolated congenital anonychia | GARD:10048 | MONDO:equivalentTo | Isolated congenital anonychia | | | -| MONDO:0860095 | central areolar choroidal dystrophy | GARD:10049 | MONDO:equivalentTo | Central areolar choroidal dystrophy | | | -| MONDO:0860096 | bietti crystalline dystrophy | GARD:10050 | MONDO:equivalentTo | Bietti crystalline dystrophy | | | -| MONDO:0860097 | limb-mammary syndrome | GARD:10051 | MONDO:equivalentTo | Limb-mammary syndrome | | | -| MONDO:0860098 | lipomyelomeningocele | GARD:10053 | MONDO:equivalentTo | Lipomyelomeningocele | | | -| MONDO:0860099 | eye defects-arachnodactyly-cardiopathy syndrome | GARD:10054 | MONDO:equivalentTo | Eye defects-arachnodactyly-cardiopathy syndrome | | | -| MONDO:0860100 | mandibulofacial dysostosis-microcephaly syndrome | GARD:10056 | MONDO:equivalentTo | Mandibulofacial dysostosis-microcephaly syndrome | | | -| MONDO:0860101 | spondyloepimetaphyseal dysplasia, geneviève type | GARD:10057 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia, Geneviève type | | | -| MONDO:0860102 | talo-patello-scaphoid osteolysis | GARD:10061 | MONDO:equivalentTo | Talo-patello-scaphoid osteolysis | | | -| MONDO:0860103 | overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome | GARD:10066 | MONDO:equivalentTo | Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome | | | -| MONDO:0860104 | subependymoma | GARD:10070 | MONDO:equivalentTo | Subependymoma | | | -| MONDO:0860105 | diaphyseal medullary stenosis-bone malignancy syndrome | GARD:10072 | MONDO:equivalentTo | Diaphyseal medullary stenosis-bone malignancy syndrome | | | -| MONDO:0860106 | white forelock with malformations | GARD:10081 | MONDO:equivalentTo | White forelock with malformations | | | -| MONDO:0860107 | infantile osteopetrosis with neuroaxonal dysplasia | GARD:10082 | MONDO:equivalentTo | Infantile osteopetrosis with neuroaxonal dysplasia | | | -| MONDO:0860108 | hepatic veno-occlusive disease-immunodeficiency syndrome | GARD:10083 | MONDO:equivalentTo | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | -| MONDO:0860109 | hemifacial myohyperplasia | GARD:10084 | MONDO:equivalentTo | Hemifacial myohyperplasia | | | -| MONDO:0860110 | majeed syndrome | GARD:10088 | MONDO:equivalentTo | Majeed syndrome | | | -| MONDO:0860111 | tarp syndrome | GARD:10089 | MONDO:equivalentTo | TARP syndrome | | | -| MONDO:0860112 | sotos syndrome | GARD:10091 | MONDO:equivalentTo | Sotos syndrome | | | -| MONDO:0860113 | hemochromatosis type 2 | GARD:10092 | MONDO:equivalentTo | Hemochromatosis type 2 | | | -| MONDO:0860114 | hemochromatosis type 3 | GARD:10093 | MONDO:equivalentTo | Hemochromatosis type 3 | | | -| MONDO:0860115 | hemochromatosis type 4 | GARD:10094 | MONDO:equivalentTo | Hemochromatosis type 4 | | | -| MONDO:0860116 | hereditary leiomyomatosis and renal cell cancer | GARD:10096 | MONDO:equivalentTo | Hereditary leiomyomatosis and renal cell cancer | | | -| MONDO:0860117 | gamma-glutamyl transpeptidase deficiency | GARD:10099 | MONDO:equivalentTo | Gamma-glutamyl transpeptidase deficiency | | | -| MONDO:0860118 | centronuclear myopathy | GARD:101 | MONDO:equivalentTo | Centronuclear myopathy | | | -| MONDO:0860119 | spondyloepimetaphyseal dysplasia-hypotrichosis syndrome | GARD:10101 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome | | | -| MONDO:0860120 | elastosis perforans serpiginosa | GARD:10103 | MONDO:equivalentTo | Elastosis perforans serpiginosa | | | -| MONDO:0860121 | osteopetrosis-hypogammaglobulinemia syndrome | GARD:10106 | MONDO:equivalentTo | Osteopetrosis-hypogammaglobulinemia syndrome | | | -| MONDO:0860122 | cornelia de lange syndrome | GARD:10109 | MONDO:equivalentTo | Cornelia de Lange syndrome | | | -| MONDO:0860123 | ichthyosis-hypotrichosis syndrome | GARD:10116 | MONDO:equivalentTo | Ichthyosis-hypotrichosis syndrome | | | -| MONDO:0860124 | oguchi disease | GARD:10118 | MONDO:equivalentTo | Oguchi disease | | | -| MONDO:0860125 | morm syndrome | GARD:10121 | MONDO:equivalentTo | MORM syndrome | | | -| MONDO:0860126 | progressive bifocal chorioretinal atrophy | GARD:10123 | MONDO:equivalentTo | Progressive bifocal chorioretinal atrophy | | | -| MONDO:0860127 | gm1 gangliosidosis type 2 | GARD:10126 | MONDO:equivalentTo | GM1 gangliosidosis type 2 | | | -| MONDO:0860128 | leydig cell hypoplasia due to lhb deficiency | GARD:10127 | MONDO:equivalentTo | Leydig cell hypoplasia due to LHB deficiency | | | -| MONDO:0860129 | isolated follicle stimulating hormone deficiency | GARD:10128 | MONDO:equivalentTo | Isolated follicle stimulating hormone deficiency | | | -| MONDO:0860130 | isolated thyroid-stimulating hormone deficiency | GARD:10129 | MONDO:equivalentTo | Isolated thyroid-stimulating hormone deficiency | | | -| MONDO:0860131 | monosomy 22q13.3 | GARD:10130 | MONDO:equivalentTo | Monosomy 22q13.3 | | | -| MONDO:0860132 | hereditary motor and sensory neuropathy, okinawa type | GARD:10131 | MONDO:equivalentTo | Hereditary motor and sensory neuropathy, Okinawa type | | | -| MONDO:0860133 | charcot-marie-tooth disease type 4g | GARD:10132 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 4G | | | -| MONDO:0860134 | distal hereditary motor neuropathy, jerash type | GARD:10133 | MONDO:equivalentTo | Distal hereditary motor neuropathy, Jerash type | | | -| MONDO:0860135 | primary dystonia, dyt4 type | GARD:10138 | MONDO:equivalentTo | Primary dystonia, DYT4 type | | | -| MONDO:0860136 | bohring-opitz syndrome | GARD:10140 | MONDO:equivalentTo | Bohring-Opitz syndrome | | | -| MONDO:0860137 | osteogenesis imperfecta type 2 | GARD:10142 | MONDO:equivalentTo | Osteogenesis imperfecta type 2 | | | -| MONDO:0860138 | dentinogenesis imperfecta type 3 | GARD:10144 | MONDO:equivalentTo | Dentinogenesis imperfecta type 3 | | | -| MONDO:0860139 | 17p11.2 microduplication syndrome | GARD:10145 | MONDO:equivalentTo | 17p11.2 microduplication syndrome | | | -| MONDO:0860140 | bor syndrome | GARD:10147 | MONDO:equivalentTo | BOR syndrome | | | -| MONDO:0860141 | branchiootic syndrome | GARD:10148 | MONDO:equivalentTo | Branchiootic syndrome | | | -| MONDO:0860142 | kyphomelic dysplasia | GARD:10149 | MONDO:equivalentTo | Kyphomelic dysplasia | | | -| MONDO:0860143 | pulmonary venoocclusive disease | GARD:10153 | MONDO:equivalentTo | Pulmonary venoocclusive disease | | | -| MONDO:0860144 | congenital chylothorax | GARD:10156 | MONDO:equivalentTo | Congenital chylothorax | | | -| MONDO:0860145 | curly hair-acral keratoderma-caries syndrome | GARD:10163 | MONDO:equivalentTo | Curly hair-acral keratoderma-caries syndrome | | | -| MONDO:0860146 | joubert syndrome with ocular defect | GARD:10168 | MONDO:equivalentTo | Joubert syndrome with ocular defect | | | -| MONDO:0860147 | joubert syndrome with renal defect | GARD:10169 | MONDO:equivalentTo | Joubert syndrome with renal defect | | | -| MONDO:0860148 | osteogenesis imperfecta | GARD:1017 | MONDO:equivalentTo | Osteogenesis imperfecta | | | -| MONDO:0860149 | florid cemento-osseous dysplasia | GARD:10173 | MONDO:equivalentTo | Florid cemento-osseous dysplasia | | | -| MONDO:0860150 | klatskin tumor | GARD:10175 | MONDO:equivalentTo | Klatskin tumor | | | -| MONDO:0860151 | mirizzi syndrome | GARD:10177 | MONDO:equivalentTo | Mirizzi syndrome | | | -| MONDO:0860152 | brooke-spiegler syndrome | GARD:10179 | MONDO:equivalentTo | Brooke-Spiegler syndrome | | | -| MONDO:0860153 | epithelioid sarcoma | GARD:10181 | MONDO:equivalentTo | Epithelioid sarcoma | | | -| MONDO:0860154 | hereditary cryohydrocytosis with normal stomatin | GARD:10184 | MONDO:equivalentTo | Hereditary cryohydrocytosis with normal stomatin | | | -| MONDO:0860155 | brittle cornea syndrome | GARD:1019 | MONDO:equivalentTo | Brittle cornea syndrome | | | -| MONDO:0860156 | isolated focal cortical dysplasia type ii | GARD:10190 | MONDO:equivalentTo | Isolated focal cortical dysplasia type II | | | -| MONDO:0860157 | subcutaneous panniculitis-like t-cell lymphoma | GARD:10193 | MONDO:equivalentTo | Subcutaneous panniculitis-like T-cell lymphoma | | | -| MONDO:0860158 | early-onset x-linked optic atrophy | GARD:10199 | MONDO:equivalentTo | Early-onset X-linked optic atrophy | | | -| MONDO:0860159 | neu-laxova syndrome | GARD:102 | MONDO:equivalentTo | Neu-Laxova syndrome | | | -| MONDO:0860160 | 2q37 microdeletion syndrome | GARD:10202 | MONDO:equivalentTo | 2q37 microdeletion syndrome | | | -| MONDO:0860161 | autosomal dominant optic atrophy and cataract | GARD:10203 | MONDO:equivalentTo | Autosomal dominant optic atrophy and cataract | | | -| MONDO:0860162 | blepharophimosis-ptosis-epicanthus inversus syndrome type 2 | GARD:10213 | MONDO:equivalentTo | Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 | | | -| MONDO:0860163 | neonatal intrahepatic cholestasis due to citrin deficiency | GARD:10214 | MONDO:equivalentTo | Neonatal intrahepatic cholestasis due to citrin deficiency | | | -| MONDO:0860164 | citrullinemia type ii | GARD:10215 | MONDO:equivalentTo | Citrullinemia type II | | | -| MONDO:0860165 | nde1-related microhydranencephaly | GARD:10216 | MONDO:equivalentTo | NDE1-related microhydranencephaly | | | -| MONDO:0860166 | spondyloepiphyseal dysplasia with metatarsal shortening | GARD:10220 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia with metatarsal shortening | | | -| MONDO:0860167 | hnf1b-related autosomal dominant tubulointerstitial kidney disease | GARD:10221 | MONDO:equivalentTo | HNF1B-related autosomal dominant tubulointerstitial kidney disease | | | -| MONDO:0860168 | isobutyryl-coa dehydrogenase deficiency | GARD:10223 | MONDO:equivalentTo | Isobutyryl-CoA dehydrogenase deficiency | | | -| MONDO:0860169 | zygomycosis | GARD:10224 | MONDO:equivalentTo | Zygomycosis | | | -| MONDO:0860170 | multiple endocrine neoplasia type 2b | GARD:10225 | MONDO:equivalentTo | Multiple endocrine neoplasia type 2B | | | -| MONDO:0860171 | cog1-cdg | GARD:10226 | MONDO:equivalentTo | COG1-CDG | | | -| MONDO:0860172 | autosomal dominant limb-girdle muscular dystrophy type 1a | GARD:10229 | MONDO:equivalentTo | Autosomal dominant limb-girdle muscular dystrophy type 1A | | | -| MONDO:0860173 | biotin-thiamine-responsive basal ganglia disease | GARD:10237 | MONDO:equivalentTo | Biotin-thiamine-responsive basal ganglia disease | | | -| MONDO:0860174 | myostatin-related muscle hypertrophy | GARD:10238 | MONDO:equivalentTo | Myostatin-related muscle hypertrophy | | | -| MONDO:0860175 | h syndrome | GARD:10239 | MONDO:equivalentTo | H syndrome | | | -| MONDO:0860176 | familial lipase maturation factor 1 deficiency | GARD:10244 | MONDO:equivalentTo | Familial lipase maturation factor 1 deficiency | | | -| MONDO:0860177 | down syndrome | GARD:10247 | MONDO:equivalentTo | Down syndrome | | | -| MONDO:0860178 | rare disease with autism | GARD:10248 | MONDO:equivalentTo | Rare disease with autism | | | -| MONDO:0860179 | bronchogenic cyst | GARD:1025 | MONDO:equivalentTo | Bronchogenic cyst | | | -| MONDO:0860180 | primary sjögren syndrome | GARD:10252 | MONDO:equivalentTo | Primary Sjögren syndrome | | | -| MONDO:0860181 | hydatidiform mole | GARD:10263 | MONDO:equivalentTo | Hydatidiform mole | | | -| MONDO:0860182 | hereditary cerebral hemorrhage with amyloidosis | GARD:10266 | MONDO:equivalentTo | Hereditary cerebral hemorrhage with amyloidosis | | | -| MONDO:0860183 | hyper-beta-alaninemia | GARD:10267 | MONDO:equivalentTo | Hyper-beta-alaninemia | | | -| MONDO:0860184 | adducted thumbs-arthrogryposis syndrome, christian type | GARD:10277 | MONDO:equivalentTo | Adducted thumbs-arthrogryposis syndrome, Christian type | | | -| MONDO:0860185 | isolated klippel-feil syndrome | GARD:10280 | MONDO:equivalentTo | Isolated Klippel-Feil syndrome | | | -| MONDO:0860186 | desmosterolosis | GARD:10283 | MONDO:equivalentTo | Desmosterolosis | | | -| MONDO:0860187 | rolandic epilepsy | GARD:10287 | MONDO:equivalentTo | Rolandic epilepsy | | | -| MONDO:0860188 | neutral lipid storage myopathy | GARD:10288 | MONDO:equivalentTo | Neutral lipid storage myopathy | | | -| MONDO:0860189 | bruck syndrome | GARD:1029 | MONDO:equivalentTo | Bruck syndrome | | | -| MONDO:0860190 | wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia | GARD:10290 | MONDO:equivalentTo | Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia | | | -| MONDO:0860191 | linear nevus sebaceus syndrome | GARD:10291 | MONDO:equivalentTo | Linear nevus sebaceus syndrome | | | -| MONDO:0860192 | autosomal recessive ataxia due to ubiquinone deficiency | GARD:10294 | MONDO:equivalentTo | Autosomal recessive ataxia due to ubiquinone deficiency | | | -| MONDO:0860193 | syndactyly-telecanthus-anogenital and renal malformations syndrome | GARD:10295 | MONDO:equivalentTo | Syndactyly-telecanthus-anogenital and renal malformations syndrome | | | -| MONDO:0860194 | 15q13.3 microdeletion syndrome | GARD:10296 | MONDO:equivalentTo | 15q13.3 microdeletion syndrome | | | -| MONDO:0860195 | ghosal hematodiaphyseal dysplasia | GARD:10297 | MONDO:equivalentTo | Ghosal hematodiaphyseal dysplasia | | | -| MONDO:0860196 | 22q11.2 deletion syndrome | GARD:10299 | MONDO:equivalentTo | 22q11.2 deletion syndrome | | | -| MONDO:0860197 | brugada syndrome | GARD:1030 | MONDO:equivalentTo | Brugada syndrome | | | -| MONDO:0860198 | microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome | GARD:10300 | MONDO:equivalentTo | Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome | | | -| MONDO:0860199 | autosomal recessive bestrophinopathy | GARD:10301 | MONDO:equivalentTo | Autosomal recessive bestrophinopathy | | | -| MONDO:0860200 | serkal syndrome | GARD:10302 | MONDO:equivalentTo | SERKAL syndrome | | | -| MONDO:0860201 | autism-facial port-wine stain syndrome | GARD:10303 | MONDO:equivalentTo | Autism-facial port-wine stain syndrome | | | -| MONDO:0860202 | 8p23.1 duplication syndrome | GARD:10304 | MONDO:equivalentTo | 8p23.1 duplication syndrome | | | -| MONDO:0860203 | nephrogenic syndrome of inappropriate antidiuresis | GARD:10306 | MONDO:equivalentTo | Nephrogenic syndrome of inappropriate antidiuresis | | | -| MONDO:0860204 | congenital disorder of glycosylation | GARD:10307 | MONDO:equivalentTo | Congenital disorder of glycosylation | | | -| MONDO:0860205 | immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | GARD:10311 | MONDO:equivalentTo | Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | | | -| MONDO:0860206 | neurogenic scapuloperoneal syndrome, kaeser type | GARD:10312 | MONDO:equivalentTo | Neurogenic scapuloperoneal syndrome, Kaeser type | | | -| MONDO:0860207 | myh7-related late-onset scapuloperoneal muscular dystrophy | GARD:10313 | MONDO:equivalentTo | MYH7-related late-onset scapuloperoneal muscular dystrophy | | | -| MONDO:0860208 | scapuloperoneal spinal muscular atrophy | GARD:10314 | MONDO:equivalentTo | Scapuloperoneal spinal muscular atrophy | | | -| MONDO:0860209 | congenital multicore myopathy with external ophthalmoplegia | GARD:10316 | MONDO:equivalentTo | Congenital multicore myopathy with external ophthalmoplegia | | | -| MONDO:0860210 | megaconial congenital muscular dystrophy | GARD:10317 | MONDO:equivalentTo | Megaconial congenital muscular dystrophy | | | -| MONDO:0860211 | autosomal dominant prognathism | GARD:10319 | MONDO:equivalentTo | Autosomal dominant prognathism | | | -| MONDO:0860212 | 3-methylglutaconic aciduria type 1 | GARD:10321 | MONDO:equivalentTo | 3-methylglutaconic aciduria type 1 | | | -| MONDO:0860213 | 2-methylbutyryl-coa dehydrogenase deficiency | GARD:10322 | MONDO:equivalentTo | 2-methylbutyryl-CoA dehydrogenase deficiency | | | -| MONDO:0860214 | l-arginine:glycine amidinotransferase deficiency | GARD:10323 | MONDO:equivalentTo | L-Arginine:glycine amidinotransferase deficiency | | | -| MONDO:0860215 | mild phenylketonuria | GARD:10324 | MONDO:equivalentTo | Mild phenylketonuria | | | -| MONDO:0860216 | progressive encephalopathy with leukodystrophy due to decr deficiency | GARD:10327 | MONDO:equivalentTo | Progressive encephalopathy with leukodystrophy due to DECR deficiency | | | -| MONDO:0860217 | x-linked agammaglobulinemia | GARD:1033 | MONDO:equivalentTo | X-linked agammaglobulinemia | | | -| MONDO:0860218 | tyrosinemia type 3 | GARD:10332 | MONDO:equivalentTo | Tyrosinemia type 3 | | | -| MONDO:0860219 | sickle cell-beta-thalassemia disease syndrome | GARD:10333 | MONDO:equivalentTo | Sickle cell-beta-thalassemia disease syndrome | | | -| MONDO:0860220 | mucopolysaccharidosis type 1 | GARD:10335 | MONDO:equivalentTo | Mucopolysaccharidosis type 1 | | | -| MONDO:0860221 | severe combined immunodeficiency due to complete rag1/2 deficiency | GARD:10339 | MONDO:equivalentTo | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | -| MONDO:0860222 | megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | GARD:10341 | MONDO:equivalentTo | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | | | -| MONDO:0860223 | 3-methylglutaconic aciduria type 4 | GARD:10342 | MONDO:equivalentTo | 3-methylglutaconic aciduria type 4 | | | -| MONDO:0860224 | gamma-heavy chain disease | GARD:10346 | MONDO:equivalentTo | Gamma-heavy chain disease | | | -| MONDO:0860225 | spinocerebellar ataxia type 6 | GARD:10351 | MONDO:equivalentTo | Spinocerebellar ataxia type 6 | | | -| MONDO:0860226 | familial platelet disorder with associated myeloid malignancy | GARD:10352 | MONDO:equivalentTo | Familial platelet disorder with associated myeloid malignancy | | | -| MONDO:0860227 | porphyria | GARD:10353 | MONDO:equivalentTo | Porphyria | | | -| MONDO:0860228 | omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome | GARD:10354 | MONDO:equivalentTo | Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome | | | -| MONDO:0860229 | familial congenital palsy of trochlear nerve | GARD:10355 | MONDO:equivalentTo | Familial congenital palsy of trochlear nerve | | | -| MONDO:0860230 | intellectual disability, birk-barel type | GARD:10358 | MONDO:equivalentTo | Intellectual disability, Birk-Barel type | | | -| MONDO:0860231 | 3q29 microduplication syndrome | GARD:10360 | MONDO:equivalentTo | 3q29 microduplication syndrome | | | -| MONDO:0860232 | idiopathic trachyonychia | GARD:10363 | MONDO:equivalentTo | Idiopathic trachyonychia | | | -| MONDO:0860233 | dopa-responsive dystonia due to sepiapterin reductase deficiency | GARD:10365 | MONDO:equivalentTo | Dopa-responsive dystonia due to sepiapterin reductase deficiency | | | -| MONDO:0860234 | toriello-lacassie-droste syndrome | GARD:10366 | MONDO:equivalentTo | Toriello-Lacassie-Droste syndrome | | | -| MONDO:0860235 | lelis syndrome | GARD:10367 | MONDO:equivalentTo | Lelis syndrome | | | -| MONDO:0860236 | primary basilar invagination | GARD:1037 | MONDO:equivalentTo | Primary basilar invagination | | | -| MONDO:0860237 | trehalase deficiency | GARD:10372 | MONDO:equivalentTo | Trehalase deficiency | | | -| MONDO:0860238 | hereditary bullous dystrophy, macular type | GARD:1038 | MONDO:equivalentTo | Hereditary bullous dystrophy, macular type | | | -| MONDO:0860239 | autosomal dominant epidermolytic ichthyosis | GARD:1039 | MONDO:equivalentTo | Autosomal dominant epidermolytic ichthyosis | | | -| MONDO:0860240 | ochoa syndrome | GARD:104 | MONDO:equivalentTo | Ochoa syndrome | | | -| MONDO:0860241 | rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome | GARD:10407 | MONDO:equivalentTo | Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome | | | -| MONDO:0860242 | small cell carcinoma of the ovary | GARD:10411 | MONDO:equivalentTo | Small cell carcinoma of the ovary | | | -| MONDO:0860243 | autosomal dominant polycystic kidney disease | GARD:10413 | MONDO:equivalentTo | Autosomal dominant polycystic kidney disease | | | -| MONDO:0860244 | goblet cell carcinoma | GARD:10414 | MONDO:equivalentTo | Goblet cell carcinoma | | | -| MONDO:0860245 | homozygous familial hypercholesterolemia | GARD:10416 | MONDO:equivalentTo | Homozygous familial hypercholesterolemia | | | -| MONDO:0860246 | symptomatic form of hemochromatosis type 1 | GARD:10417 | MONDO:equivalentTo | Symptomatic form of hemochromatosis type 1 | | | -| MONDO:0860247 | hemophilia | GARD:10418 | MONDO:equivalentTo | Hemophilia | | | -| MONDO:0860248 | myotonic dystrophy | GARD:10419 | MONDO:equivalentTo | Myotonic dystrophy | | | -| MONDO:0860249 | coenzyme q10 deficiency | GARD:10423 | MONDO:equivalentTo | Coenzyme Q10 deficiency | | | -| MONDO:0860250 | cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | GARD:10424 | MONDO:equivalentTo | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | -| MONDO:0860251 | x-linked hypohidrotic ectodermal dysplasia | GARD:10427 | MONDO:equivalentTo | X-linked hypohidrotic ectodermal dysplasia | | | -| MONDO:0860252 | pure autonomic failure | GARD:10428 | MONDO:equivalentTo | Pure autonomic failure | | | -| MONDO:0860253 | autosomal dominant brachyolmia | GARD:10429 | MONDO:equivalentTo | Autosomal dominant brachyolmia | | | -| MONDO:0860254 | dravet syndrome | GARD:10430 | MONDO:equivalentTo | Dravet syndrome | | | -| MONDO:0860255 | buschke-ollendorff syndrome | GARD:1044 | MONDO:equivalentTo | Buschke-Ollendorff syndrome | | | -| MONDO:0860256 | pediatric multiple sclerosis | GARD:10443 | MONDO:equivalentTo | Pediatric multiple sclerosis | | | -| MONDO:0860257 | transaldolase deficiency | GARD:10445 | MONDO:equivalentTo | Transaldolase deficiency | | | -| MONDO:0860258 | perry syndrome | GARD:10453 | MONDO:equivalentTo | Perry syndrome | | | -| MONDO:0860259 | isolated permanent neonatal diabetes mellitus | GARD:10457 | MONDO:equivalentTo | Isolated permanent neonatal diabetes mellitus | | | -| MONDO:0860260 | gcgr-related hyperglucagonemia | GARD:10460 | MONDO:equivalentTo | GCGR-related hyperglucagonemia | | | -| MONDO:0860261 | multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome | GARD:10467 | MONDO:equivalentTo | Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome | | | -| MONDO:0860262 | spinocerebellar ataxia type 17 | GARD:10469 | MONDO:equivalentTo | Spinocerebellar ataxia type 17 | | | -| MONDO:0860263 | telethonin-related limb-girdle muscular dystrophy r7 | GARD:10471 | MONDO:equivalentTo | Telethonin-related limb-girdle muscular dystrophy R7 | | | -| MONDO:0860264 | l-2-hydroxyglutaric aciduria | GARD:10472 | MONDO:equivalentTo | L-2-hydroxyglutaric aciduria | | | -| MONDO:0860265 | spinocerebellar ataxia type 10 | GARD:10474 | MONDO:equivalentTo | Spinocerebellar ataxia type 10 | | | -| MONDO:0860266 | spinocerebellar ataxia type 11 | GARD:10475 | MONDO:equivalentTo | Spinocerebellar ataxia type 11 | | | -| MONDO:0860267 | spinocerebellar ataxia type 12 | GARD:10476 | MONDO:equivalentTo | Spinocerebellar ataxia type 12 | | | -| MONDO:0860268 | spinocerebellar ataxia type 15/16 | GARD:10477 | MONDO:equivalentTo | Spinocerebellar ataxia type 15/16 | | | -| MONDO:0860269 | spinocerebellar ataxia type 29 | GARD:10480 | MONDO:equivalentTo | Spinocerebellar ataxia type 29 | | | -| MONDO:0860270 | infantile dystonia-parkinsonism | GARD:10484 | MONDO:equivalentTo | Infantile dystonia-parkinsonism | | | -| MONDO:0860271 | craniopharyngioma | GARD:10486 | MONDO:equivalentTo | Craniopharyngioma | | | -| MONDO:0860272 | cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | GARD:1049 | MONDO:equivalentTo | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | | | -| MONDO:0860273 | langerhans cell sarcoma | GARD:10491 | MONDO:equivalentTo | Langerhans cell sarcoma | | | -| MONDO:0860274 | aggressive nk-cell leukemia | GARD:10493 | MONDO:equivalentTo | Aggressive NK-cell leukemia | | | -| MONDO:0860275 | meconium aspiration syndrome | GARD:10494 | MONDO:equivalentTo | Meconium aspiration syndrome | | | -| MONDO:0860276 | oculocerebral hypopigmentation syndrome, cross type | GARD:105 | MONDO:equivalentTo | Oculocerebral hypopigmentation syndrome, Cross type | | | -| MONDO:0860277 | amyotrophic lateral sclerosis type 4 | GARD:10502 | MONDO:equivalentTo | Amyotrophic lateral sclerosis type 4 | | | -| MONDO:0860278 | craniorachischisis | GARD:10504 | MONDO:equivalentTo | Craniorachischisis | | | -| MONDO:0860279 | cryptophthalmia | GARD:10505 | MONDO:equivalentTo | Cryptophthalmia | | | -| MONDO:0860280 | iniencephaly | GARD:10506 | MONDO:equivalentTo | Iniencephaly | | | -| MONDO:0860281 | bartter syndrome type 4 | GARD:10508 | MONDO:equivalentTo | Bartter syndrome type 4 | | | -| MONDO:0860282 | acquired partial lipodystrophy | GARD:10509 | MONDO:equivalentTo | Acquired partial lipodystrophy | | | -| MONDO:0860283 | caffey disease | GARD:1051 | MONDO:equivalentTo | Caffey disease | | | -| MONDO:0860284 | juvenile huntington disease | GARD:10510 | MONDO:equivalentTo | Juvenile Huntington disease | | | -| MONDO:0860285 | spondyloepimetaphyseal dysplasia, aggrecan type | GARD:10513 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia, aggrecan type | | | -| MONDO:0860286 | east syndrome | GARD:10514 | MONDO:equivalentTo | EAST syndrome | | | -| MONDO:0860287 | congenital tracheomalacia | GARD:10515 | MONDO:equivalentTo | Congenital tracheomalacia | | | -| MONDO:0860288 | sterile multifocal osteomyelitis with periostitis and pustulosis | GARD:10516 | MONDO:equivalentTo | Sterile multifocal osteomyelitis with periostitis and pustulosis | | | -| MONDO:0860289 | orofaciodigital syndrome type 3 | GARD:10518 | MONDO:equivalentTo | Orofaciodigital syndrome type 3 | | | -| MONDO:0860290 | cataract-hypertrichosis-intellectual disability syndrome | GARD:1052 | MONDO:equivalentTo | Cataract-hypertrichosis-intellectual disability syndrome | | | -| MONDO:0860291 | orofaciodigital syndrome type 9 | GARD:10520 | MONDO:equivalentTo | Orofaciodigital syndrome type 9 | | | -| MONDO:0860292 | congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | GARD:10522 | MONDO:equivalentTo | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | | | -| MONDO:0860293 | combined immunodeficiency due to stim1 deficiency | GARD:10523 | MONDO:equivalentTo | Combined immunodeficiency due to STIM1 deficiency | | | -| MONDO:0860294 | combined immunodeficiency due to orai1 deficiency | GARD:10524 | MONDO:equivalentTo | Combined immunodeficiency due to ORAI1 deficiency | | | -| MONDO:0860295 | 15q11.2 microdeletion syndrome | GARD:10525 | MONDO:equivalentTo | 15q11.2 microdeletion syndrome | | | -| MONDO:0860296 | ectodermal dysplasia with natal teeth, turnpenny type | GARD:10526 | MONDO:equivalentTo | Ectodermal dysplasia with natal teeth, Turnpenny type | | | -| MONDO:0860297 | gingival fibromatosis-facial dysmorphism syndrome | GARD:10528 | MONDO:equivalentTo | Gingival fibromatosis-facial dysmorphism syndrome | | | -| MONDO:0860298 | myofibrillar myopathy | GARD:10529 | MONDO:equivalentTo | Myofibrillar myopathy | | | -| MONDO:0860299 | limited cutaneous systemic sclerosis | GARD:1053 | MONDO:equivalentTo | Limited cutaneous systemic sclerosis | | | -| MONDO:0860300 | x-linked dystonia-parkinsonism | GARD:10533 | MONDO:equivalentTo | X-linked dystonia-parkinsonism | | | -| MONDO:0860301 | primary dystonia, dyt17 type | GARD:10536 | MONDO:equivalentTo | Primary dystonia, DYT17 type | | | -| MONDO:0860302 | primary dystonia, dyt13 type | GARD:10537 | MONDO:equivalentTo | Primary dystonia, DYT13 type | | | -| MONDO:0860303 | autosomal recessive spastic paraplegia type 35 | GARD:10538 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 35 | | | -| MONDO:0860304 | dystonia 16 | GARD:10539 | MONDO:equivalentTo | Dystonia 16 | | | -| MONDO:0860305 | paroxysmal exertion-induced dyskinesia | GARD:10541 | MONDO:equivalentTo | Paroxysmal exertion-induced dyskinesia | | | -| MONDO:0860306 | cd4+/cd56+ hematodermic neoplasm | GARD:10556 | MONDO:equivalentTo | CD4+/CD56+ hematodermic neoplasm | | | -| MONDO:0860307 | 22q11.2 duplication syndrome | GARD:10557 | MONDO:equivalentTo | 22q11.2 duplication syndrome | | | -| MONDO:0860308 | primary interstitial lung disease specific to childhood | GARD:10559 | MONDO:equivalentTo | Primary interstitial lung disease specific to childhood | | | -| MONDO:0860309 | aa amyloidosis | GARD:10560 | MONDO:equivalentTo | AA amyloidosis | | | -| MONDO:0860310 | nodular cutaneous amyloidosis | GARD:10562 | MONDO:equivalentTo | Nodular cutaneous amyloidosis | | | -| MONDO:0860311 | calpain-3-related limb-girdle muscular dystrophy r1 | GARD:1057 | MONDO:equivalentTo | Calpain-3-related limb-girdle muscular dystrophy R1 | | | -| MONDO:0860312 | christianson syndrome | GARD:10572 | MONDO:equivalentTo | Christianson syndrome | | | -| MONDO:0860313 | camptodactyly syndrome, guadalajara type 3 | GARD:10573 | MONDO:equivalentTo | Camptodactyly syndrome, Guadalajara type 3 | | | -| MONDO:0860314 | åland islands eye disease | GARD:10574 | MONDO:equivalentTo | Åland Islands eye disease | | | -| MONDO:0860315 | hyper-igm syndrome type 2 | GARD:10578 | MONDO:equivalentTo | Hyper-IgM syndrome type 2 | | | -| MONDO:0860316 | hyper-igm syndrome type 3 | GARD:10579 | MONDO:equivalentTo | Hyper-IgM syndrome type 3 | | | -| MONDO:0860317 | x-linked calvarial hyperostosis | GARD:1058 | MONDO:equivalentTo | X-linked calvarial hyperostosis | | | -| MONDO:0860318 | hyper-igm syndrome type 4 | GARD:10580 | MONDO:equivalentTo | Hyper-IgM syndrome type 4 | | | -| MONDO:0860319 | hyper-igm syndrome type 5 | GARD:10581 | MONDO:equivalentTo | Hyper-IgM syndrome type 5 | | | -| MONDO:0860320 | zechi-ceide syndrome | GARD:10582 | MONDO:equivalentTo | Zechi-Ceide syndrome | | | -| MONDO:0860321 | neonatal ichthyosis-sclerosing cholangitis syndrome | GARD:10583 | MONDO:equivalentTo | Neonatal ichthyosis-sclerosing cholangitis syndrome | | | -| MONDO:0860322 | mesomelic dysplasia, savarirayan type | GARD:10584 | MONDO:equivalentTo | Mesomelic dysplasia, Savarirayan type | | | -| MONDO:0860323 | chronic neutrophilic leukemia | GARD:10585 | MONDO:equivalentTo | Chronic neutrophilic leukemia | | | -| MONDO:0860324 | adult-onset autosomal dominant leukodystrophy | GARD:10587 | MONDO:equivalentTo | Adult-onset autosomal dominant leukodystrophy | | | -| MONDO:0860325 | mesoaxial synostotic syndactyly with phalangeal reduction | GARD:10590 | MONDO:equivalentTo | Mesoaxial synostotic syndactyly with phalangeal reduction | | | -| MONDO:0860326 | 1q21.1 microduplication syndrome | GARD:10591 | MONDO:equivalentTo | 1q21.1 microduplication syndrome | | | -| MONDO:0860327 | 19q13.11 microdeletion syndrome | GARD:10592 | MONDO:equivalentTo | 19q13.11 microdeletion syndrome | | | -| MONDO:0860328 | acute infantile liver failure due to synthesis defect of mtdna-encoded proteins | GARD:10593 | MONDO:equivalentTo | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | | | -| MONDO:0860329 | neurodegenerative syndrome due to cerebral folate transport deficiency | GARD:10594 | MONDO:equivalentTo | Neurodegenerative syndrome due to cerebral folate transport deficiency | | | -| MONDO:0860330 | bnar syndrome | GARD:10595 | MONDO:equivalentTo | BNAR syndrome | | | -| MONDO:0860331 | complete androgen insensitivity syndrome | GARD:10597 | MONDO:equivalentTo | Complete androgen insensitivity syndrome | | | -| MONDO:0860332 | oculocerebrocutaneous syndrome | GARD:106 | MONDO:equivalentTo | Oculocerebrocutaneous syndrome | | | -| MONDO:0860333 | combined pituitary hormone deficiencies, genetic forms | GARD:10602 | MONDO:equivalentTo | Combined pituitary hormone deficiencies, genetic forms | | | -| MONDO:0860334 | non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | GARD:10603 | MONDO:equivalentTo | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | | | -| MONDO:0860335 | short stature-pituitary and cerebellar defects-small sella turcica syndrome | GARD:10604 | MONDO:equivalentTo | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | | | -| MONDO:0860336 | acrocapitofemoral dysplasia | GARD:10605 | MONDO:equivalentTo | Acrocapitofemoral dysplasia | | | -| MONDO:0860337 | atelosteogenesis type iii | GARD:10608 | MONDO:equivalentTo | Atelosteogenesis type III | | | -| MONDO:0860338 | growth delay due to insulin-like growth factor i resistance | GARD:10609 | MONDO:equivalentTo | Growth delay due to insulin-like growth factor I resistance | | | -| MONDO:0860339 | campomelia, cumming type | GARD:1061 | MONDO:equivalentTo | Campomelia, Cumming type | | | -| MONDO:0860340 | spondyloepimetaphyseal dysplasia, matrilin-3 type | GARD:10611 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia, matrilin-3 type | | | -| MONDO:0860341 | thoracomelic dysplasia | GARD:10612 | MONDO:equivalentTo | Thoracomelic dysplasia | | | -| MONDO:0860342 | adrenomyeloneuropathy | GARD:10614 | MONDO:equivalentTo | Adrenomyeloneuropathy | | | -| MONDO:0860343 | spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | GARD:10616 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | | | -| MONDO:0860344 | congenital cystic eye | GARD:10617 | MONDO:equivalentTo | Congenital cystic eye | | | -| MONDO:0860345 | spondyloepimetaphyseal dysplasia, missouri type | GARD:10618 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia, Missouri type | | | -| MONDO:0860346 | camptobrachydactyly | GARD:1062 | MONDO:equivalentTo | Camptobrachydactyly | | | -| MONDO:0860347 | smith-mccort dysplasia | GARD:10620 | MONDO:equivalentTo | Smith-McCort dysplasia | | | -| MONDO:0860348 | spondyloepiphyseal dysplasia tarda | GARD:10624 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia tarda | | | -| MONDO:0860349 | growth delay due to insulin-like growth factor type 1 deficiency | GARD:10627 | MONDO:equivalentTo | Growth delay due to insulin-like growth factor type 1 deficiency | | | -| MONDO:0860350 | spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome | GARD:10629 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome | | | -| MONDO:0860351 | idiopathic camptocormia | GARD:1063 | MONDO:equivalentTo | Idiopathic camptocormia | | | -| MONDO:0860352 | congenital tufting enteropathy | GARD:10630 | MONDO:equivalentTo | Congenital tufting enteropathy | | | -| MONDO:0860353 | pleomorphic xanthoastrocytoma | GARD:10631 | MONDO:equivalentTo | Pleomorphic xanthoastrocytoma | | | -| MONDO:0860354 | subependymal giant cell astrocytoma | GARD:10632 | MONDO:equivalentTo | Subependymal giant cell astrocytoma | | | -| MONDO:0860355 | myxopapillary ependymoma | GARD:10633 | MONDO:equivalentTo | Myxopapillary ependymoma | | | -| MONDO:0860356 | anaplastic ependymoma | GARD:10634 | MONDO:equivalentTo | Anaplastic ependymoma | | | -| MONDO:0860357 | astroblastoma | GARD:10635 | MONDO:equivalentTo | Astroblastoma | | | -| MONDO:0860358 | anaplastic oligoastrocytoma | GARD:10637 | MONDO:equivalentTo | Anaplastic oligoastrocytoma | | | -| MONDO:0860359 | gangliocytoma | GARD:10638 | MONDO:equivalentTo | Gangliocytoma | | | -| MONDO:0860360 | anaplastic ganglioglioma | GARD:10639 | MONDO:equivalentTo | Anaplastic ganglioglioma | | | -| MONDO:0860361 | camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome | GARD:1064 | MONDO:equivalentTo | Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome | | | -| MONDO:0860362 | dysembryoplastic neuroepithelial tumor | GARD:10640 | MONDO:equivalentTo | Dysembryoplastic neuroepithelial tumor | | | -| MONDO:0860363 | central neurocytoma | GARD:10641 | MONDO:equivalentTo | Central neurocytoma | | | -| MONDO:0860364 | cerebellar liponeurocytoma | GARD:10642 | MONDO:equivalentTo | Cerebellar liponeurocytoma | | | -| MONDO:0860365 | carney-stratakis syndrome | GARD:10643 | MONDO:equivalentTo | Carney-Stratakis syndrome | | | -| MONDO:0860366 | pineal parenchymal tumor of intermediate differenciation | GARD:10644 | MONDO:equivalentTo | Pineal parenchymal tumor of intermediate differenciation | | | -| MONDO:0860367 | dent disease type 2 | GARD:10645 | MONDO:equivalentTo | Dent disease type 2 | | | -| MONDO:0860368 | spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | GARD:10647 | MONDO:equivalentTo | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | | | -| MONDO:0860369 | cone dystrophy with supernormal rod response | GARD:10649 | MONDO:equivalentTo | Cone dystrophy with supernormal rod response | | | -| MONDO:0860370 | baroreflex failure | GARD:10664 | MONDO:equivalentTo | Baroreflex failure | | | -| MONDO:0860371 | autosomal dominant focal dystonia, dyt25 type | GARD:10667 | MONDO:equivalentTo | Autosomal dominant focal dystonia, DYT25 type | | | -| MONDO:0860372 | camptodactyly syndrome, guadalajara type 1 | GARD:1067 | MONDO:equivalentTo | Camptodactyly syndrome, Guadalajara type 1 | | | -| MONDO:0860373 | glycoproteinosis | GARD:10670 | MONDO:equivalentTo | Glycoproteinosis | | | -| MONDO:0860374 | fetal gaucher disease | GARD:10675 | MONDO:equivalentTo | Fetal Gaucher disease | | | -| MONDO:0860375 | umod-related autosomal dominant tubulointerstitial kidney disease | GARD:10679 | MONDO:equivalentTo | UMOD-related autosomal dominant tubulointerstitial kidney disease | | | -| MONDO:0860376 | camptodactyly syndrome, guadalajara type 2 | GARD:1068 | MONDO:equivalentTo | Camptodactyly syndrome, Guadalajara type 2 | | | -| MONDO:0860377 | pseudohypoparathyroidism type 1b | GARD:10680 | MONDO:equivalentTo | Pseudohypoparathyroidism type 1B | | | -| MONDO:0860378 | pseudohypoparathyroidism type 1c | GARD:10681 | MONDO:equivalentTo | Pseudohypoparathyroidism type 1C | | | -| MONDO:0860379 | pseudohypoparathyroidism type 2 | GARD:10682 | MONDO:equivalentTo | Pseudohypoparathyroidism type 2 | | | -| MONDO:0860380 | primary lateral sclerosis | GARD:10684 | MONDO:equivalentTo | Primary lateral sclerosis | | | -| MONDO:0860381 | neuroferritinopathy | GARD:10686 | MONDO:equivalentTo | Neuroferritinopathy | | | -| MONDO:0860382 | camptodactyly-taurinuria syndrome | GARD:1069 | MONDO:equivalentTo | Camptodactyly-taurinuria syndrome | | | -| MONDO:0860383 | orofaciodigital syndrome | GARD:10692 | MONDO:equivalentTo | Orofaciodigital syndrome | | | -| MONDO:0860384 | orofaciodigital syndrome type 12 | GARD:10693 | MONDO:equivalentTo | Orofaciodigital syndrome type 12 | | | -| MONDO:0860385 | orofaciodigital syndrome type 13 | GARD:10694 | MONDO:equivalentTo | Orofaciodigital syndrome type 13 | | | -| MONDO:0860386 | atrial septal defect, ostium primum type | GARD:10695 | MONDO:equivalentTo | Atrial septal defect, ostium primum type | | | -| MONDO:0860387 | atrial septal defect, sinus venosus type | GARD:10696 | MONDO:equivalentTo | Atrial septal defect, sinus venosus type | | | -| MONDO:0860388 | atrial septal defect, coronary sinus type | GARD:10697 | MONDO:equivalentTo | Atrial septal defect, coronary sinus type | | | -| MONDO:0860389 | pontocerebellar hypoplasia type 1 | GARD:10704 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 1 | | | -| MONDO:0860390 | pontocerebellar hypoplasia type 2 | GARD:10705 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 2 | | | -| MONDO:0860391 | cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | GARD:10706 | MONDO:equivalentTo | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | | | -| MONDO:0860392 | deafness with labyrinthine aplasia, microtia, and microdontia | GARD:10707 | MONDO:equivalentTo | Deafness with labyrinthine aplasia, microtia, and microdontia | | | -| MONDO:0860393 | pontocerebellar hypoplasia type 3 | GARD:10708 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 3 | | | -| MONDO:0860394 | pontocerebellar hypoplasia type 6 | GARD:10710 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 6 | | | -| MONDO:0860395 | genetic peripheral neuropathy | GARD:10711 | MONDO:equivalentTo | Genetic peripheral neuropathy | | | -| MONDO:0860396 | pudendal neuralgia | GARD:10713 | MONDO:equivalentTo | Pudendal neuralgia | | | -| MONDO:0860397 | legius syndrome | GARD:10714 | MONDO:equivalentTo | Legius syndrome | | | -| MONDO:0860398 | hsd10 disease | GARD:10716 | MONDO:equivalentTo | HSD10 disease | | | -| MONDO:0860399 | noonan syndrome-like disorder with loose anagen hair | GARD:10719 | MONDO:equivalentTo | Noonan syndrome-like disorder with loose anagen hair | | | -| MONDO:0860400 | camurati-engelmann disease | GARD:1072 | MONDO:equivalentTo | Camurati-Engelmann disease | | | -| MONDO:0860401 | koolen-de vries syndrome | GARD:10727 | MONDO:equivalentTo | Koolen-De Vries syndrome | | | -| MONDO:0860402 | fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | GARD:10728 | MONDO:equivalentTo | Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | | | -| MONDO:0860403 | chronic visceral acid sphingomyelinase deficiency | GARD:10729 | MONDO:equivalentTo | Chronic visceral acid sphingomyelinase deficiency | | | -| MONDO:0860404 | pyridoxal phosphate-responsive seizures | GARD:10730 | MONDO:equivalentTo | Pyridoxal phosphate-responsive seizures | | | -| MONDO:0860405 | mcleod neuroacanthocytosis syndrome | GARD:10731 | MONDO:equivalentTo | McLeod neuroacanthocytosis syndrome | | | -| MONDO:0860406 | leukoencephalopathy with calcifications and cysts | GARD:10732 | MONDO:equivalentTo | Leukoencephalopathy with calcifications and cysts | | | -| MONDO:0860407 | pleuropulmonary blastoma familial tumor susceptibility syndrome | GARD:10734 | MONDO:equivalentTo | Pleuropulmonary blastoma familial tumor susceptibility syndrome | | | -| MONDO:0860408 | primary hyperoxaluria type 3 | GARD:10738 | MONDO:equivalentTo | Primary hyperoxaluria type 3 | | | -| MONDO:0860409 | neuronal ceroid lipofuscinosis | GARD:10739 | MONDO:equivalentTo | Neuronal ceroid lipofuscinosis | | | -| MONDO:0860410 | proximal 16p11.2 microdeletion syndrome | GARD:10740 | MONDO:equivalentTo | Proximal 16p11.2 microdeletion syndrome | | | -| MONDO:0860411 | spondyloepimetaphyseal dysplasia, handigodu type | GARD:10741 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia, Handigodu type | | | -| MONDO:0860412 | conjunctival malignant melanoma | GARD:10744 | MONDO:equivalentTo | Conjunctival malignant melanoma | | | -| MONDO:0860413 | epidermolysis bullosa simplex | GARD:10752 | MONDO:equivalentTo | Epidermolysis bullosa simplex | | | -| MONDO:0860414 | pachyonychia congenita | GARD:10753 | MONDO:equivalentTo | Pachyonychia congenita | | | -| MONDO:0860415 | rubinstein-taybi syndrome due to 16p13.3 microdeletion | GARD:10754 | MONDO:equivalentTo | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | | | -| MONDO:0860416 | 16p13.3 microduplication syndrome | GARD:10755 | MONDO:equivalentTo | 16p13.3 microduplication syndrome | | | -| MONDO:0860417 | multiple epiphyseal dysplasia | GARD:10756 | MONDO:equivalentTo | Multiple epiphyseal dysplasia | | | -| MONDO:0860418 | pseudohypoparathyroidism | GARD:10758 | MONDO:equivalentTo | Pseudohypoparathyroidism | | | -| MONDO:0860419 | glycogen storage disease due to muscle and heart glycogen synthase deficiency | GARD:10760 | MONDO:equivalentTo | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | | | -| MONDO:0860420 | 2-hydroxyglutaric aciduria | GARD:10761 | MONDO:equivalentTo | 2-hydroxyglutaric aciduria | | | -| MONDO:0860421 | hereditary arterial and articular multiple calcification syndrome | GARD:10762 | MONDO:equivalentTo | Hereditary arterial and articular multiple calcification syndrome | | | -| MONDO:0860422 | hypermethioninemia due to glycine n-methyltransferase deficiency | GARD:10764 | MONDO:equivalentTo | Hypermethioninemia due to glycine N-methyltransferase deficiency | | | -| MONDO:0860423 | congenital factor xiii deficiency | GARD:10766 | MONDO:equivalentTo | Congenital factor XIII deficiency | | | -| MONDO:0860424 | mogs-cdg | GARD:10767 | MONDO:equivalentTo | MOGS-CDG | | | -| MONDO:0860425 | familial or sporadic hemiplegic migraine | GARD:10768 | MONDO:equivalentTo | Familial or sporadic hemiplegic migraine | | | -| MONDO:0860426 | laing early-onset distal myopathy | GARD:10769 | MONDO:equivalentTo | Laing early-onset distal myopathy | | | -| MONDO:0860427 | chronic mucocutaneous candidiasis | GARD:1077 | MONDO:equivalentTo | Chronic mucocutaneous candidiasis | | | -| MONDO:0860428 | kallmann syndrome | GARD:10771 | MONDO:equivalentTo | Kallmann syndrome | | | -| MONDO:0860429 | syndromic multisystem autoimmune disease due to itch deficiency | GARD:10775 | MONDO:equivalentTo | Syndromic multisystem autoimmune disease due to Itch deficiency | | | -| MONDO:0860430 | peritoneal cystic mesothelioma | GARD:10777 | MONDO:equivalentTo | Peritoneal cystic mesothelioma | | | -| MONDO:0860431 | recurrent infection due to specific granule deficiency | GARD:10778 | MONDO:equivalentTo | Recurrent infection due to specific granule deficiency | | | -| MONDO:0860432 | clippers | GARD:10779 | MONDO:equivalentTo | CLIPPERS | | | -| MONDO:0860433 | hypogonadism-mitral valve prolapse-intellectual disability syndrome | GARD:1078 | MONDO:equivalentTo | Hypogonadism-mitral valve prolapse-intellectual disability syndrome | | | -| MONDO:0860434 | diffuse idiopathic pulmonary neuroendocrine cell hyperplasia | GARD:10780 | MONDO:equivalentTo | Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia | | | -| MONDO:0860435 | goldmann-favre syndrome | GARD:10781 | MONDO:equivalentTo | Goldmann-Favre syndrome | | | -| MONDO:0860436 | stickler syndrome | GARD:10782 | MONDO:equivalentTo | Stickler syndrome | | | -| MONDO:0860437 | bilateral frontal polymicrogyria | GARD:10783 | MONDO:equivalentTo | Bilateral frontal polymicrogyria | | | -| MONDO:0860438 | bilateral frontoparietal polymicrogyria | GARD:10784 | MONDO:equivalentTo | Bilateral frontoparietal polymicrogyria | | | -| MONDO:0860439 | bilateral parasagittal parieto-occipital polymicrogyria | GARD:10785 | MONDO:equivalentTo | Bilateral parasagittal parieto-occipital polymicrogyria | | | -| MONDO:0860440 | bilateral generalized polymicrogyria | GARD:10786 | MONDO:equivalentTo | Bilateral generalized polymicrogyria | | | -| MONDO:0860441 | loeys-dietz syndrome | GARD:10788 | MONDO:equivalentTo | Loeys-Dietz syndrome | | | -| MONDO:0860442 | cone rod dystrophy | GARD:10790 | MONDO:equivalentTo | Cone rod dystrophy | | | -| MONDO:0860443 | logopenic progressive aphasia | GARD:10791 | MONDO:equivalentTo | Logopenic progressive aphasia | | | -| MONDO:0860444 | semantic dementia | GARD:10792 | MONDO:equivalentTo | Semantic dementia | | | -| MONDO:0860445 | progressive non-fluent aphasia | GARD:10793 | MONDO:equivalentTo | Progressive non-fluent aphasia | | | -| MONDO:0860446 | paroxysmal hemicrania | GARD:10794 | MONDO:equivalentTo | Paroxysmal hemicrania | | | -| MONDO:0860447 | hemicrania continua | GARD:10795 | MONDO:equivalentTo | Hemicrania continua | | | -| MONDO:0860448 | hypnic headache | GARD:10796 | MONDO:equivalentTo | Hypnic headache | | | -| MONDO:0860449 | adult polyglucosan body disease | GARD:108 | MONDO:equivalentTo | Adult polyglucosan body disease | | | -| MONDO:0860450 | autosomal dominant tubulointerstitial kidney disease | GARD:10801 | MONDO:equivalentTo | Autosomal dominant tubulointerstitial kidney disease | | | -| MONDO:0860451 | lamellar ichthyosis | GARD:10803 | MONDO:equivalentTo | Lamellar ichthyosis | | | -| MONDO:0860452 | metaplastic carcinoma of the breast | GARD:10804 | MONDO:equivalentTo | Metaplastic carcinoma of the breast | | | -| MONDO:0860453 | mutyh-related attenuated familial adenomatous polyposis | GARD:10805 | MONDO:equivalentTo | MUTYH-related attenuated familial adenomatous polyposis | | | -| MONDO:0860454 | female restricted epilepsy with intellectual disability | GARD:10806 | MONDO:equivalentTo | Female restricted epilepsy with intellectual disability | | | -| MONDO:0860455 | insulin autoimmune syndrome | GARD:10808 | MONDO:equivalentTo | Insulin autoimmune syndrome | | | -| MONDO:0860456 | postorgasmic illness syndrome | GARD:10809 | MONDO:equivalentTo | Postorgasmic illness syndrome | | | -| MONDO:0860457 | fatty acid hydroxylase-associated neurodegeneration | GARD:10810 | MONDO:equivalentTo | Fatty acid hydroxylase-associated neurodegeneration | | | -| MONDO:0860458 | 1q21.1 microdeletion syndrome | GARD:10813 | MONDO:equivalentTo | 1q21.1 microdeletion syndrome | | | -| MONDO:0860459 | thyrotoxic periodic paralysis | GARD:10814 | MONDO:equivalentTo | Thyrotoxic periodic paralysis | | | -| MONDO:0860460 | lichen planus pigmentosus | GARD:10816 | MONDO:equivalentTo | Lichen planus pigmentosus | | | -| MONDO:0860461 | autosomal dominant spastic paraplegia type 31 | GARD:10817 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 31 | | | -| MONDO:0860462 | combined malonic and methylmalonic acidemia | GARD:10818 | MONDO:equivalentTo | Combined malonic and methylmalonic acidemia | | | -| MONDO:0860463 | eastern equine encephalitis | GARD:10821 | MONDO:equivalentTo | Eastern equine encephalitis | | | -| MONDO:0860464 | idiopathic spontaneous coronary artery dissection | GARD:10822 | MONDO:equivalentTo | Idiopathic spontaneous coronary artery dissection | | | -| MONDO:0860465 | obesity due to pro-opiomelanocortin deficiency | GARD:10823 | MONDO:equivalentTo | Obesity due to pro-opiomelanocortin deficiency | | | -| MONDO:0860466 | cushing syndrome due to macronodular adrenal hyperplasia | GARD:10824 | MONDO:equivalentTo | Cushing syndrome due to macronodular adrenal hyperplasia | | | -| MONDO:0860467 | familial hypocalciuric hypercalcemia | GARD:10828 | MONDO:equivalentTo | Familial hypocalciuric hypercalcemia | | | -| MONDO:0860468 | hyperparathyroidism-jaw tumor syndrome | GARD:10829 | MONDO:equivalentTo | Hyperparathyroidism-jaw tumor syndrome | | | -| MONDO:0860469 | nevus of ito | GARD:10830 | MONDO:equivalentTo | Nevus of Ito | | | -| MONDO:0860470 | ring chromosome 2 syndrome | GARD:10837 | MONDO:equivalentTo | Ring chromosome 2 syndrome | | | -| MONDO:0860471 | ring chromosome 3 syndrome | GARD:10839 | MONDO:equivalentTo | Ring chromosome 3 syndrome | | | -| MONDO:0860472 | systemic capillary leak syndrome | GARD:1084 | MONDO:equivalentTo | Systemic capillary leak syndrome | | | -| MONDO:0860473 | ring chromosome 5 syndrome | GARD:10841 | MONDO:equivalentTo | Ring chromosome 5 syndrome | | | -| MONDO:0860474 | ring chromosome 11 syndrome | GARD:10846 | MONDO:equivalentTo | Ring chromosome 11 syndrome | | | -| MONDO:0860475 | ring chromosome 16 syndrome | GARD:10855 | MONDO:equivalentTo | Ring chromosome 16 syndrome | | | -| MONDO:0860476 | monosomy 21 | GARD:10860 | MONDO:equivalentTo | Monosomy 21 | | | -| MONDO:0860477 | monosomy 18q | GARD:10865 | MONDO:equivalentTo | Monosomy 18q | | | -| MONDO:0860478 | familial multiple trichoepithelioma | GARD:10867 | MONDO:equivalentTo | Familial multiple trichoepithelioma | | | -| MONDO:0860479 | free sialic acid storage disease | GARD:10870 | MONDO:equivalentTo | Free sialic acid storage disease | | | -| MONDO:0860480 | intermediate severe salla disease | GARD:10871 | MONDO:equivalentTo | Intermediate severe Salla disease | | | -| MONDO:0860481 | malignant peripheral nerve sheath tumor | GARD:10872 | MONDO:equivalentTo | Malignant peripheral nerve sheath tumor | | | -| MONDO:0860482 | heterotaxia | GARD:10875 | MONDO:equivalentTo | Heterotaxia | | | -| MONDO:0860483 | congenital radioulnar synostosis | GARD:10876 | MONDO:equivalentTo | Congenital radioulnar synostosis | | | -| MONDO:0860484 | familial tumoral calcinosis | GARD:10877 | MONDO:equivalentTo | Familial tumoral calcinosis | | | -| MONDO:0860485 | familial normophosphatemic tumoral calcinosis | GARD:10878 | MONDO:equivalentTo | Familial normophosphatemic tumoral calcinosis | | | -| MONDO:0860486 | familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome | GARD:10879 | MONDO:equivalentTo | Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome | | | -| MONDO:0860487 | frontal fibrosing alopecia | GARD:10886 | MONDO:equivalentTo | Frontal fibrosing alopecia | | | -| MONDO:0860488 | osteofibrous dysplasia | GARD:10887 | MONDO:equivalentTo | Osteofibrous dysplasia | | | -| MONDO:0860489 | hanac syndrome | GARD:10889 | MONDO:equivalentTo | HANAC syndrome | | | -| MONDO:0860490 | non-involuting congenital hemangioma | GARD:10890 | MONDO:equivalentTo | Non-involuting congenital hemangioma | | | -| MONDO:0860491 | gm1 gangliosidosis | GARD:10891 | MONDO:equivalentTo | GM1 gangliosidosis | | | -| MONDO:0860492 | blepharophimosis-intellectual disability syndrome | GARD:10892 | MONDO:equivalentTo | Blepharophimosis-intellectual disability syndrome | | | -| MONDO:0860493 | primary acquired pure red cell aplasia | GARD:10898 | MONDO:equivalentTo | Primary acquired pure red cell aplasia | | | -| MONDO:0860494 | inclusion body myopathy with paget disease of bone and frontotemporal dementia | GARD:10899 | MONDO:equivalentTo | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | -| MONDO:0860495 | progressive osseous heteroplasia | GARD:109 | MONDO:equivalentTo | Progressive osseous heteroplasia | | | -| MONDO:0860496 | hereditary diffuse gastric cancer | GARD:10900 | MONDO:equivalentTo | Hereditary diffuse gastric cancer | | | -| MONDO:0860497 | neuroacanthocytosis | GARD:10902 | MONDO:equivalentTo | Neuroacanthocytosis | | | -| MONDO:0860498 | brachyolmia | GARD:10903 | MONDO:equivalentTo | Brachyolmia | | | -| MONDO:0860499 | dyskeratosis congenita | GARD:10905 | MONDO:equivalentTo | Dyskeratosis congenita | | | -| MONDO:0860500 | primary pigmented nodular adrenocortical disease | GARD:10906 | MONDO:equivalentTo | Primary pigmented nodular adrenocortical disease | | | -| MONDO:0860501 | x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia | GARD:10907 | MONDO:equivalentTo | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | | | -| MONDO:0860502 | adult-onset foveomacular vitelliform dystrophy | GARD:10909 | MONDO:equivalentTo | Adult-onset foveomacular vitelliform dystrophy | | | -| MONDO:0860503 | medial condensing osteitis of the clavicle | GARD:10910 | MONDO:equivalentTo | Medial condensing osteitis of the clavicle | | | -| MONDO:0860504 | autoimmune pancreatitis | GARD:10911 | MONDO:equivalentTo | Autoimmune pancreatitis | | | -| MONDO:0860505 | griscelli syndrome | GARD:10913 | MONDO:equivalentTo | Griscelli syndrome | | | -| MONDO:0860506 | familial avascular necrosis of femoral head | GARD:10914 | MONDO:equivalentTo | Familial avascular necrosis of femoral head | | | -| MONDO:0860507 | x-linked lymphoproliferative disease | GARD:10915 | MONDO:equivalentTo | X-linked lymphoproliferative disease | | | -| MONDO:0860508 | x-linked lymphoproliferative disease due to xiap deficiency | GARD:10916 | MONDO:equivalentTo | X-linked lymphoproliferative disease due to XIAP deficiency | | | -| MONDO:0860509 | hypomyelination with atrophy of basal ganglia and cerebellum | GARD:10917 | MONDO:equivalentTo | Hypomyelination with atrophy of basal ganglia and cerebellum | | | -| MONDO:0860510 | pontine tegmental cap dysplasia | GARD:10919 | MONDO:equivalentTo | Pontine tegmental cap dysplasia | | | -| MONDO:0860511 | intraneural perineurioma | GARD:10921 | MONDO:equivalentTo | Intraneural perineurioma | | | -| MONDO:0860512 | 49,xxxyy syndrome | GARD:10922 | MONDO:equivalentTo | 49,XXXYY syndrome | | | -| MONDO:0860513 | erythrokeratoderma variabilis progressiva | GARD:10923 | MONDO:equivalentTo | Erythrokeratoderma variabilis progressiva | | | -| MONDO:0860514 | carney triad | GARD:10924 | MONDO:equivalentTo | Carney triad | | | -| MONDO:0860515 | la crosse encephalitis | GARD:10925 | MONDO:equivalentTo | La Crosse encephalitis | | | -| MONDO:0860516 | cryopyrin-associated periodic syndrome | GARD:10927 | MONDO:equivalentTo | Cryopyrin-associated periodic syndrome | | | -| MONDO:0860517 | nodular regenerative hyperplasia of the liver | GARD:10929 | MONDO:equivalentTo | Nodular regenerative hyperplasia of the liver | | | -| MONDO:0860518 | monocytopenia with susceptibility to infections | GARD:10934 | MONDO:equivalentTo | Monocytopenia with susceptibility to infections | | | -| MONDO:0860519 | 16q24.3 microdeletion syndrome | GARD:10935 | MONDO:equivalentTo | 16q24.3 microdeletion syndrome | | | -| MONDO:0860520 | 17q23.1q23.2 microdeletion syndrome | GARD:10936 | MONDO:equivalentTo | 17q23.1q23.2 microdeletion syndrome | | | -| MONDO:0860521 | microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome | GARD:10938 | MONDO:equivalentTo | Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome | | | -| MONDO:0860522 | cloves syndrome | GARD:10939 | MONDO:equivalentTo | CLOVES syndrome | | | -| MONDO:0860523 | cardiac diverticulum | GARD:1094 | MONDO:equivalentTo | Cardiac diverticulum | | | -| MONDO:0860524 | superior limbic keratoconjunctivitis | GARD:10940 | MONDO:equivalentTo | Superior limbic keratoconjunctivitis | | | -| MONDO:0860525 | anterior uveitis | GARD:10941 | MONDO:equivalentTo | Anterior uveitis | | | -| MONDO:0860526 | glaucoma secondary to spherophakia/ectopia lentis and megalocornea | GARD:10942 | MONDO:equivalentTo | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea | | | -| MONDO:0860527 | 1q44 microdeletion syndrome | GARD:10943 | MONDO:equivalentTo | 1q44 microdeletion syndrome | | | -| MONDO:0860528 | cog6-cgd | GARD:10944 | MONDO:equivalentTo | COG6-CGD | | | -| MONDO:0860529 | short stature-optic atrophy-pelger-huët anomaly syndrome | GARD:10945 | MONDO:equivalentTo | Short stature-optic atrophy-Pelger-Huët anomaly syndrome | | | -| MONDO:0860530 | corticosteroid-sensitive aseptic abscess syndrome | GARD:10946 | MONDO:equivalentTo | Corticosteroid-sensitive aseptic abscess syndrome | | | -| MONDO:0860531 | uv-sensitive syndrome | GARD:10947 | MONDO:equivalentTo | UV-sensitive syndrome | | | -| MONDO:0860532 | erythropoietic uroporphyria associated with myeloid malignancy | GARD:10948 | MONDO:equivalentTo | Erythropoietic uroporphyria associated with myeloid malignancy | | | -| MONDO:0860533 | non-24-hour sleep-wake syndrome | GARD:10949 | MONDO:equivalentTo | Non-24-hour sleep-wake syndrome | | | -| MONDO:0860534 | necrobiotic xanthogranuloma | GARD:10951 | MONDO:equivalentTo | Necrobiotic xanthogranuloma | | | -| MONDO:0860535 | 3-methylcrotonyl-coa carboxylase deficiency | GARD:10954 | MONDO:equivalentTo | 3-methylcrotonyl-CoA carboxylase deficiency | | | -| MONDO:0860536 | noonan syndrome | GARD:10955 | MONDO:equivalentTo | Noonan syndrome | | | -| MONDO:0860537 | hyper-ige syndrome | GARD:10956 | MONDO:equivalentTo | Hyper-IgE syndrome | | | -| MONDO:0860538 | irida syndrome | GARD:10957 | MONDO:equivalentTo | IRIDA syndrome | | | -| MONDO:0860539 | oculocutaneous albinism | GARD:10958 | MONDO:equivalentTo | Oculocutaneous albinism | | | -| MONDO:0860540 | familial isolated pituitary adenoma | GARD:10959 | MONDO:equivalentTo | Familial isolated pituitary adenoma | | | -| MONDO:0860541 | flna-related x-linked myxomatous valvular dysplasia | GARD:1096 | MONDO:equivalentTo | FLNA-related X-linked myxomatous valvular dysplasia | | | -| MONDO:0860542 | tempi syndrome | GARD:10962 | MONDO:equivalentTo | TEMPI syndrome | | | -| MONDO:0860543 | chronic graft versus host disease | GARD:10964 | MONDO:equivalentTo | Chronic graft versus host disease | | | -| MONDO:0860544 | fgfr2-related bent bone dysplasia | GARD:10965 | MONDO:equivalentTo | FGFR2-related bent bone dysplasia | | | -| MONDO:0860545 | systemic-onset juvenile idiopathic arthritis | GARD:10966 | MONDO:equivalentTo | Systemic-onset juvenile idiopathic arthritis | | | -| MONDO:0860546 | enthesitis-related juvenile idiopathic arthritis | GARD:10969 | MONDO:equivalentTo | Enthesitis-related juvenile idiopathic arthritis | | | -| MONDO:0860547 | psoriasis-related juvenile idiopathic arthritis | GARD:10970 | MONDO:equivalentTo | Psoriasis-related juvenile idiopathic arthritis | | | -| MONDO:0860548 | distal monosomy 17q | GARD:10972 | MONDO:equivalentTo | Distal monosomy 17q | | | -| MONDO:0860549 | adult neuronal ceroid lipofuscinosis | GARD:10973 | MONDO:equivalentTo | Adult neuronal ceroid lipofuscinosis | | | -| MONDO:0860550 | non-syndromic pontocerebellar hypoplasia | GARD:10977 | MONDO:equivalentTo | Non-syndromic pontocerebellar hypoplasia | | | -| MONDO:0860551 | autoimmune polyendocrinopathy type 3 | GARD:10980 | MONDO:equivalentTo | Autoimmune polyendocrinopathy type 3 | | | -| MONDO:0860552 | hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | GARD:10981 | MONDO:equivalentTo | Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | | | -| MONDO:0860553 | disseminated superficial actinic porokeratosis | GARD:10983 | MONDO:equivalentTo | Disseminated superficial actinic porokeratosis | | | -| MONDO:0860554 | mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency | GARD:10984 | MONDO:equivalentTo | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | | | -| MONDO:0860555 | left ventricular noncompaction | GARD:10985 | MONDO:equivalentTo | Left ventricular noncompaction | | | -| MONDO:0860556 | granulomatous slack skin | GARD:10986 | MONDO:equivalentTo | Granulomatous slack skin | | | -| MONDO:0860557 | mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome | GARD:10989 | MONDO:equivalentTo | Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome | | | -| MONDO:0860558 | 19p13.12 microdeletion syndrome | GARD:10991 | MONDO:equivalentTo | 19p13.12 microdeletion syndrome | | | -| MONDO:0860559 | autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome | GARD:10992 | MONDO:equivalentTo | Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome | | | -| MONDO:0860560 | genitopatellar syndrome | GARD:10994 | MONDO:equivalentTo | Genitopatellar syndrome | | | -| MONDO:0860561 | infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | GARD:10995 | MONDO:equivalentTo | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | | | -| MONDO:0860562 | distal 17p13.1 microdeletion syndrome | GARD:10996 | MONDO:equivalentTo | Distal 17p13.1 microdeletion syndrome | | | -| MONDO:0860563 | aneurysm-osteoarthritis syndrome | GARD:10997 | MONDO:equivalentTo | Aneurysm-osteoarthritis syndrome | | | -| MONDO:0860564 | 2q23.1 microdeletion syndrome | GARD:10998 | MONDO:equivalentTo | 2q23.1 microdeletion syndrome | | | -| MONDO:0860565 | severe intellectual disability and progressive spastic paraplegia | GARD:10999 | MONDO:equivalentTo | Severe intellectual disability and progressive spastic paraplegia | | | -| MONDO:0860566 | alternating hemiplegia of childhood | GARD:11 | MONDO:equivalentTo | Alternating hemiplegia of childhood | | | -| MONDO:0860567 | noonan syndrome with multiple lentigines | GARD:1100 | MONDO:equivalentTo | Noonan syndrome with multiple lentigines | | | -| MONDO:0860568 | constitutional megaloblastic anemia with severe neurologic disease | GARD:11000 | MONDO:equivalentTo | Constitutional megaloblastic anemia with severe neurologic disease | | | -| MONDO:0860569 | karyomegalic interstitial nephritis | GARD:11003 | MONDO:equivalentTo | Karyomegalic interstitial nephritis | | | -| MONDO:0860570 | linear and whorled nevoid hypermelanosis | GARD:11004 | MONDO:equivalentTo | Linear and whorled nevoid hypermelanosis | | | -| MONDO:0860571 | febrile infection-related epilepsy syndrome | GARD:11005 | MONDO:equivalentTo | Febrile infection-related epilepsy syndrome | | | -| MONDO:0860572 | painful orbital and systemic neurofibromas-marfanoid habitus syndrome | GARD:11006 | MONDO:equivalentTo | Painful orbital and systemic neurofibromas-marfanoid habitus syndrome | | | -| MONDO:0860573 | onychocytic matricoma | GARD:11007 | MONDO:equivalentTo | Onychocytic matricoma | | | -| MONDO:0860574 | nestor-guillermo progeria syndrome | GARD:11008 | MONDO:equivalentTo | Nestor-Guillermo progeria syndrome | | | -| MONDO:0860575 | chondrodysplasia with joint dislocations, gpapp type | GARD:11009 | MONDO:equivalentTo | Chondrodysplasia with joint dislocations, gPAPP type | | | -| MONDO:0860576 | hereditary sensorimotor neuropathy with hyperelastic skin | GARD:11010 | MONDO:equivalentTo | Hereditary sensorimotor neuropathy with hyperelastic skin | | | -| MONDO:0860577 | multifocal motor neuropathy | GARD:11011 | MONDO:equivalentTo | Multifocal motor neuropathy | | | -| MONDO:0860578 | cardiomyopathy-cataract-hip spine disease syndrome | GARD:1102 | MONDO:equivalentTo | Cardiomyopathy-cataract-hip spine disease syndrome | | | -| MONDO:0860579 | recurrent respiratory papillomatosis | GARD:111 | MONDO:equivalentTo | Recurrent respiratory papillomatosis | | | -| MONDO:0860580 | 3mc syndrome | GARD:1118 | MONDO:equivalentTo | 3MC syndrome | | | -| MONDO:0860581 | carney complex | GARD:1119 | MONDO:equivalentTo | Carney complex | | | -| MONDO:0860582 | infant acute respiratory distress syndrome | GARD:112 | MONDO:equivalentTo | Infant acute respiratory distress syndrome | | | -| MONDO:0860583 | carnitine palmitoyl transferase 1a deficiency | GARD:1120 | MONDO:equivalentTo | Carnitine palmitoyl transferase 1A deficiency | | | -| MONDO:0860584 | carnitine palmitoyltransferase ii deficiency | GARD:1121 | MONDO:equivalentTo | Carnitine palmitoyltransferase II deficiency | | | -| MONDO:0860585 | carnitine-acylcarnitine translocase deficiency | GARD:1123 | MONDO:equivalentTo | Carnitine-acylcarnitine translocase deficiency | | | -| MONDO:0860586 | carpotarsal osteochondromatosis | GARD:1128 | MONDO:equivalentTo | Carpotarsal osteochondromatosis | | | -| MONDO:0860587 | idiopathic chronic eosinophilic pneumonia | GARD:1130 | MONDO:equivalentTo | Idiopathic chronic eosinophilic pneumonia | | | -| MONDO:0860588 | x-linked intellectual disability, stocco dos santos type | GARD:1133 | MONDO:equivalentTo | X-linked intellectual disability, Stocco Dos Santos type | | | -| MONDO:0860589 | autosomal recessive palmoplantar keratoderma and congenital alopecia | GARD:1139 | MONDO:equivalentTo | Autosomal recessive palmoplantar keratoderma and congenital alopecia | | | -| MONDO:0860590 | x-linked charcot-marie-tooth disease type 5 | GARD:114 | MONDO:equivalentTo | X-linked Charcot-Marie-Tooth disease type 5 | | | -| MONDO:0860591 | early-onset anterior polar cataract | GARD:1140 | MONDO:equivalentTo | Early-onset anterior polar cataract | | | -| MONDO:0860592 | cataract-ataxia-deafness syndrome | GARD:1141 | MONDO:equivalentTo | Cataract-ataxia-deafness syndrome | | | -| MONDO:0860593 | congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | GARD:1142 | MONDO:equivalentTo | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | | | -| MONDO:0860594 | cataract-microcornea syndrome | GARD:1155 | MONDO:equivalentTo | Cataract-microcornea syndrome | | | -| MONDO:0860595 | total early-onset cataract | GARD:1159 | MONDO:equivalentTo | Total early-onset cataract | | | -| MONDO:0860596 | alpha-n-acetylgalactosaminidase deficiency type 1 | GARD:116 | MONDO:equivalentTo | Alpha-N-acetylgalactosaminidase deficiency type 1 | | | -| MONDO:0860597 | cataract-glaucoma syndrome | GARD:1160 | MONDO:equivalentTo | Cataract-glaucoma syndrome | | | -| MONDO:0860598 | caudal appendage-deafness syndrome | GARD:1163 | MONDO:equivalentTo | Caudal appendage-deafness syndrome | | | -| MONDO:0860599 | caudal duplication | GARD:1164 | MONDO:equivalentTo | Caudal duplication | | | -| MONDO:0860600 | acrocardiofacial syndrome | GARD:1167 | MONDO:equivalentTo | Acrocardiofacial syndrome | | | -| MONDO:0860601 | schinzel-giedion syndrome | GARD:117 | MONDO:equivalentTo | Schinzel-Giedion syndrome | | | -| MONDO:0860602 | ulnar-mammary syndrome | GARD:118 | MONDO:equivalentTo | Ulnar-mammary syndrome | | | -| MONDO:0860603 | ameloblastic carcinoma | GARD:11855 | MONDO:equivalentTo | Ameloblastic carcinoma | | | -| MONDO:0860604 | cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | GARD:1188 | MONDO:equivalentTo | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | | | -| MONDO:0860605 | cerebellar ataxia-ectodermal dysplasia syndrome | GARD:1189 | MONDO:equivalentTo | Cerebellar ataxia-ectodermal dysplasia syndrome | | | -| MONDO:0860606 | peroxisome biogenesis disorder | GARD:11890 | MONDO:equivalentTo | Peroxisome biogenesis disorder | | | -| MONDO:0860607 | spinal arteriovenous metameric syndrome | GARD:11892 | MONDO:equivalentTo | Spinal arteriovenous metameric syndrome | | | -| MONDO:0860608 | mandibuloacral dysplasia | GARD:11893 | MONDO:equivalentTo | Mandibuloacral dysplasia | | | -| MONDO:0860609 | pulmonary alveolar microlithiasis | GARD:11894 | MONDO:equivalentTo | Pulmonary alveolar microlithiasis | | | -| MONDO:0860610 | pellucid marginal degeneration | GARD:11895 | MONDO:equivalentTo | Pellucid marginal degeneration | | | -| MONDO:0860611 | progressive cone dystrophy | GARD:11897 | MONDO:equivalentTo | Progressive cone dystrophy | | | -| MONDO:0860612 | linear lichen planus | GARD:11898 | MONDO:equivalentTo | Linear lichen planus | | | -| MONDO:0860613 | neurodegeneration with brain iron accumulation | GARD:11899 | MONDO:equivalentTo | Neurodegeneration with brain iron accumulation | | | -| MONDO:0860614 | juvenile amyotrophic lateral sclerosis | GARD:11901 | MONDO:equivalentTo | Juvenile amyotrophic lateral sclerosis | | | -| MONDO:0860615 | congenital myasthenic syndrome | GARD:11902 | MONDO:equivalentTo | Congenital myasthenic syndrome | | | -| MONDO:0860616 | immunodeficiency due to selective anti-polysaccharide antibody deficiency | GARD:11903 | MONDO:equivalentTo | Immunodeficiency due to selective anti-polysaccharide antibody deficiency | | | -| MONDO:0860617 | capillary malformation-arteriovenous malformation | GARD:11904 | MONDO:equivalentTo | Capillary malformation-arteriovenous malformation | | | -| MONDO:0860618 | cylindrical spirals myopathy | GARD:11906 | MONDO:equivalentTo | Cylindrical spirals myopathy | | | -| MONDO:0860619 | acute panmyelosis with myelofibrosis | GARD:11907 | MONDO:equivalentTo | Acute panmyelosis with myelofibrosis | | | -| MONDO:0860620 | dirofilariasis | GARD:11908 | MONDO:equivalentTo | Dirofilariasis | | | -| MONDO:0860621 | autosomal recessive progressive external ophthalmoplegia | GARD:1191 | MONDO:equivalentTo | Autosomal recessive progressive external ophthalmoplegia | | | -| MONDO:0860622 | atypical werner syndrome | GARD:11910 | MONDO:equivalentTo | Atypical Werner syndrome | | | -| MONDO:0860623 | deafness-infertility syndrome | GARD:11911 | MONDO:equivalentTo | Deafness-infertility syndrome | | | -| MONDO:0860624 | heritable pulmonary arterial hypertension | GARD:11914 | MONDO:equivalentTo | Heritable pulmonary arterial hypertension | | | -| MONDO:0860625 | cap myopathy | GARD:11915 | MONDO:equivalentTo | Cap myopathy | | | -| MONDO:0860626 | autosomal dominant nocturnal frontal lobe epilepsy | GARD:11918 | MONDO:equivalentTo | Autosomal dominant nocturnal frontal lobe epilepsy | | | -| MONDO:0860627 | small cell carcinoma of the bladder | GARD:11923 | MONDO:equivalentTo | Small cell carcinoma of the bladder | | | -| MONDO:0860628 | x-linked centronuclear myopathy | GARD:11925 | MONDO:equivalentTo | X-linked centronuclear myopathy | | | -| MONDO:0860629 | hereditary sensory neuropathy-deafness-dementia syndrome | GARD:11927 | MONDO:equivalentTo | Hereditary sensory neuropathy-deafness-dementia syndrome | | | -| MONDO:0860630 | endosteal sclerosis-cerebellar hypoplasia syndrome | GARD:1195 | MONDO:equivalentTo | Endosteal sclerosis-cerebellar hypoplasia syndrome | | | -| MONDO:0860631 | rhabdomyosarcoma | GARD:11951 | MONDO:equivalentTo | Rhabdomyosarcoma | | | -| MONDO:0860632 | non-hodgkin lymphoma | GARD:11953 | MONDO:equivalentTo | Non-Hodgkin lymphoma | | | -| MONDO:0860633 | cerebellar hypoplasia-tapetoretinal degeneration syndrome | GARD:1196 | MONDO:equivalentTo | Cerebellar hypoplasia-tapetoretinal degeneration syndrome | | | -| MONDO:0860634 | familial partial lipodystrophy | GARD:11962 | MONDO:equivalentTo | Familial partial lipodystrophy | | | -| MONDO:0860635 | renal nutcracker syndrome | GARD:11971 | MONDO:equivalentTo | Renal nutcracker syndrome | | | -| MONDO:0860636 | autosomal dominant optic atrophy | GARD:11972 | MONDO:equivalentTo | Autosomal dominant optic atrophy | | | -| MONDO:0860637 | angioimmunoblastic t-cell lymphoma | GARD:11973 | MONDO:equivalentTo | Angioimmunoblastic T-cell lymphoma | | | -| MONDO:0860638 | 3q29 microdeletion syndrome | GARD:11974 | MONDO:equivalentTo | 3q29 microdeletion syndrome | | | -| MONDO:0860639 | autoimmune encephalitis | GARD:11979 | MONDO:equivalentTo | Autoimmune encephalitis | | | -| MONDO:0860640 | hypomyelination-congenital cataract syndrome | GARD:11980 | MONDO:equivalentTo | Hypomyelination-congenital cataract syndrome | | | -| MONDO:0860641 | primary membranoproliferative glomerulonephritis | GARD:11982 | MONDO:equivalentTo | Primary membranoproliferative glomerulonephritis | | | -| MONDO:0860642 | activated pi3k-delta syndrome | GARD:11983 | MONDO:equivalentTo | Activated PI3K-delta syndrome | | | -| MONDO:0860643 | hereditary pheochromocytoma-paraganglioma | GARD:11984 | MONDO:equivalentTo | Hereditary pheochromocytoma-paraganglioma | | | -| MONDO:0860644 | 48,xyyy syndrome | GARD:11985 | MONDO:equivalentTo | 48,XYYY syndrome | | | -| MONDO:0860645 | autosomal recessive cerebelloparenchymal disorder type 3 | GARD:1199 | MONDO:equivalentTo | Autosomal recessive cerebelloparenchymal disorder type 3 | | | -| MONDO:0860646 | adult-onset immunodeficiency with anti-interferon-gamma autoantibodies | GARD:11992 | MONDO:equivalentTo | Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies | | | -| MONDO:0860647 | hypersensitivity pneumonitis | GARD:12 | MONDO:equivalentTo | Hypersensitivity pneumonitis | | | -| MONDO:0860648 | hydrocephaly-cerebellar agenesis syndrome | GARD:1200 | MONDO:equivalentTo | Hydrocephaly-cerebellar agenesis syndrome | | | -| MONDO:0860649 | congenital tracheal stenosis | GARD:12008 | MONDO:equivalentTo | Congenital tracheal stenosis | | | -| MONDO:0860650 | isolated biliary atresia | GARD:12010 | MONDO:equivalentTo | Isolated biliary atresia | | | -| MONDO:0860651 | autosomal dominant intermediate charcot-marie-tooth disease type e | GARD:12011 | MONDO:equivalentTo | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E | | | -| MONDO:0860652 | lipoblastoma | GARD:12015 | MONDO:equivalentTo | Lipoblastoma | | | -| MONDO:0860653 | primary melanoma of the central nervous system | GARD:12016 | MONDO:equivalentTo | Primary melanoma of the central nervous system | | | -| MONDO:0860654 | differentiated thyroid carcinoma | GARD:12027 | MONDO:equivalentTo | Differentiated thyroid carcinoma | | | -| MONDO:0860655 | levocardia | GARD:12032 | MONDO:equivalentTo | Levocardia | | | -| MONDO:0860656 | nemaline myopathy | GARD:12033 | MONDO:equivalentTo | Nemaline myopathy | | | -| MONDO:0860657 | facial onset sensory and motor neuronopathy | GARD:12036 | MONDO:equivalentTo | Facial onset sensory and motor neuronopathy | | | -| MONDO:0860658 | immunotactoid glomerulopathy | GARD:12048 | MONDO:equivalentTo | Immunotactoid glomerulopathy | | | -| MONDO:0860659 | gm3 synthase deficiency | GARD:12059 | MONDO:equivalentTo | GM3 synthase deficiency | | | -| MONDO:0860660 | visual snow syndrome | GARD:12062 | MONDO:equivalentTo | Visual snow syndrome | | | -| MONDO:0860661 | oculo-auriculo-vertebral spectrum | GARD:12074 | MONDO:equivalentTo | Oculo-auriculo-vertebral spectrum | | | -| MONDO:0860662 | 7q11.23 microduplication syndrome | GARD:12076 | MONDO:equivalentTo | 7q11.23 microduplication syndrome | | | -| MONDO:0860663 | isolated microphthalmia-anophthalmia-coloboma | GARD:12085 | MONDO:equivalentTo | Isolated microphthalmia-anophthalmia-coloboma | | | -| MONDO:0860664 | lysosomal acid lipase deficiency | GARD:12097 | MONDO:equivalentTo | Lysosomal acid lipase deficiency | | | -| MONDO:0860665 | cholesteryl ester storage disease | GARD:12099 | MONDO:equivalentTo | Cholesteryl ester storage disease | | | -| MONDO:0860666 | focal facial dermal dysplasia type iii | GARD:121 | MONDO:equivalentTo | Focal facial dermal dysplasia type III | | | -| MONDO:0860667 | cerebrofaciothoracic dysplasia | GARD:1210 | MONDO:equivalentTo | Cerebrofaciothoracic dysplasia | | | -| MONDO:0860668 | autosomal dominant non-syndromic intellectual disability | GARD:12107 | MONDO:equivalentTo | Autosomal dominant non-syndromic intellectual disability | | | -| MONDO:0860669 | trichothiodystrophy | GARD:12109 | MONDO:equivalentTo | Trichothiodystrophy | | | -| MONDO:0860670 | autosomal recessive primary microcephaly | GARD:12117 | MONDO:equivalentTo | Autosomal recessive primary microcephaly | | | -| MONDO:0860671 | congenital absence of upper arm and forearm with hand present | GARD:12123 | MONDO:equivalentTo | Congenital absence of upper arm and forearm with hand present | | | -| MONDO:0860672 | macrophage activation syndrome | GARD:12124 | MONDO:equivalentTo | Macrophage activation syndrome | | | -| MONDO:0860673 | plasmablastic lymphoma | GARD:12125 | MONDO:equivalentTo | Plasmablastic lymphoma | | | -| MONDO:0860674 | methylmalonic acidemia with homocystinuria, type cblc | GARD:12128 | MONDO:equivalentTo | Methylmalonic acidemia with homocystinuria, type cblC | | | -| MONDO:0860675 | dopa-responsive dystonia | GARD:12144 | MONDO:equivalentTo | Dopa-responsive dystonia | | | -| MONDO:0860676 | reducing body myopathy | GARD:12162 | MONDO:equivalentTo | Reducing body myopathy | | | -| MONDO:0860677 | brain-lung-thyroid syndrome | GARD:12163 | MONDO:equivalentTo | Brain-lung-thyroid syndrome | | | -| MONDO:0860678 | 5q14.3 microdeletion syndrome | GARD:12166 | MONDO:equivalentTo | 5q14.3 microdeletion syndrome | | | -| MONDO:0860679 | retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | GARD:1217 | MONDO:equivalentTo | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | | | -| MONDO:0860680 | cdkl5-deficiency disorder | GARD:12173 | MONDO:equivalentTo | CDKL5-deficiency disorder | | | -| MONDO:0860681 | cln10 disease | GARD:1218 | MONDO:equivalentTo | CLN10 disease | | | -| MONDO:0860682 | benign recurrent intrahepatic cholestasis | GARD:12185 | MONDO:equivalentTo | Benign recurrent intrahepatic cholestasis | | | -| MONDO:0860683 | cln1 disease | GARD:1219 | MONDO:equivalentTo | CLN1 disease | | | -| MONDO:0860684 | early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome | GARD:12199 | MONDO:equivalentTo | Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome | | | -| MONDO:0860685 | singleton-merten dysplasia | GARD:122 | MONDO:equivalentTo | Singleton-Merten dysplasia | | | -| MONDO:0860686 | cln7 disease | GARD:1220 | MONDO:equivalentTo | CLN7 disease | | | -| MONDO:0860687 | 15q24 microdeletion syndrome | GARD:12219 | MONDO:equivalentTo | 15q24 microdeletion syndrome | | | -| MONDO:0860688 | cln4b disease | GARD:1222 | MONDO:equivalentTo | CLN4B disease | | | -| MONDO:0860689 | cln5 disease | GARD:1223 | MONDO:equivalentTo | CLN5 disease | | | -| MONDO:0860690 | childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | GARD:12232 | MONDO:equivalentTo | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | | | -| MONDO:0860691 | autosomal recessive ataxia, beauce type | GARD:12234 | MONDO:equivalentTo | Autosomal recessive ataxia, Beauce type | | | -| MONDO:0860692 | cln6 disease | GARD:1224 | MONDO:equivalentTo | CLN6 disease | | | -| MONDO:0860693 | familial lipoprotein lipase deficiency | GARD:12241 | MONDO:equivalentTo | Familial lipoprotein lipase deficiency | | | -| MONDO:0860694 | new-onset refractory status epilepticus | GARD:12244 | MONDO:equivalentTo | New-onset refractory status epilepticus | | | -| MONDO:0860695 | isolated ectopia lentis | GARD:12251 | MONDO:equivalentTo | Isolated ectopia lentis | | | -| MONDO:0860696 | t-cell/histiocyte rich large b cell lymphoma | GARD:12257 | MONDO:equivalentTo | T-cell/histiocyte rich large B cell lymphoma | | | -| MONDO:0860697 | cervical hypertrichosis-peripheral neuropathy syndrome | GARD:1226 | MONDO:equivalentTo | Cervical hypertrichosis-peripheral neuropathy syndrome | | | -| MONDO:0860698 | col4a1-related familial vascular leukoencephalopathy | GARD:12264 | MONDO:equivalentTo | COL4A1-related familial vascular leukoencephalopathy | | | -| MONDO:0860699 | congenital insensitivity to pain-anosmia-neuropathic arthropathy | GARD:12267 | MONDO:equivalentTo | Congenital insensitivity to pain-anosmia-neuropathic arthropathy | | | -| MONDO:0860700 | central congenital hypothyroidism | GARD:12280 | MONDO:equivalentTo | Central congenital hypothyroidism | | | -| MONDO:0860701 | chronic atrial and intestinal dysrhythmia syndrome | GARD:12281 | MONDO:equivalentTo | Chronic atrial and intestinal dysrhythmia syndrome | | | -| MONDO:0860702 | lissencephaly | GARD:12291 | MONDO:equivalentTo | Lissencephaly | | | -| MONDO:0860703 | bradyopsia | GARD:12299 | MONDO:equivalentTo | Bradyopsia | | | -| MONDO:0860704 | pelizaeus-merzbacher-like disease | GARD:12300 | MONDO:equivalentTo | Pelizaeus-Merzbacher-like disease | | | -| MONDO:0860705 | thomsen and becker disease | GARD:12301 | MONDO:equivalentTo | Thomsen and Becker disease | | | -| MONDO:0860706 | celiac artery compression syndrome | GARD:12308 | MONDO:equivalentTo | Celiac artery compression syndrome | | | -| MONDO:0860707 | congenital lactase deficiency | GARD:12311 | MONDO:equivalentTo | Congenital lactase deficiency | | | -| MONDO:0860708 | image syndrome | GARD:12312 | MONDO:equivalentTo | IMAGe syndrome | | | -| MONDO:0860709 | autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | GARD:12314 | MONDO:equivalentTo | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | -| MONDO:0860710 | alacrimia-choreoathetosis-liver dysfunction syndrome | GARD:12315 | MONDO:equivalentTo | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | -| MONDO:0860711 | autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency | GARD:12316 | MONDO:equivalentTo | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | | | -| MONDO:0860712 | hereditary sensory and autonomic neuropathy type 5 | GARD:12328 | MONDO:equivalentTo | Hereditary sensory and autonomic neuropathy type 5 | | | -| MONDO:0860713 | chand syndrome | GARD:1233 | MONDO:equivalentTo | CHAND syndrome | | | -| MONDO:0860714 | intestinal lymphangiectasia | GARD:12331 | MONDO:equivalentTo | Intestinal lymphangiectasia | | | -| MONDO:0860715 | carcinosarcoma of the corpus uteri | GARD:12335 | MONDO:equivalentTo | Carcinosarcoma of the corpus uteri | | | -| MONDO:0860716 | transcobalamin deficiency | GARD:12338 | MONDO:equivalentTo | Transcobalamin deficiency | | | -| MONDO:0860717 | hypogonadotropic hypogonadism-retinitis pigmentosa syndrome | GARD:1234 | MONDO:equivalentTo | Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome | | | -| MONDO:0860718 | rare lichen planus | GARD:12344 | MONDO:equivalentTo | Rare lichen planus | | | -| MONDO:0860719 | dihydropyrimidinuria | GARD:12347 | MONDO:equivalentTo | Dihydropyrimidinuria | | | -| MONDO:0860720 | cog5-cdg | GARD:12348 | MONDO:equivalentTo | COG5-CDG | | | -| MONDO:0860721 | multifocal atrial tachycardia | GARD:1235 | MONDO:equivalentTo | Multifocal atrial tachycardia | | | -| MONDO:0860722 | autosomal recessive axonal neuropathy with neuromyotonia | GARD:12353 | MONDO:equivalentTo | Autosomal recessive axonal neuropathy with neuromyotonia | | | -| MONDO:0860723 | distal renal tubular acidosis with anemia | GARD:12354 | MONDO:equivalentTo | Distal renal tubular acidosis with anemia | | | -| MONDO:0860724 | sting-associated vasculopathy with onset in infancy | GARD:12357 | MONDO:equivalentTo | STING-associated vasculopathy with onset in infancy | | | -| MONDO:0860725 | microcytic anemia with liver iron overload | GARD:12360 | MONDO:equivalentTo | Microcytic anemia with liver iron overload | | | -| MONDO:0860726 | familial hyperaldosteronism type iii | GARD:12362 | MONDO:equivalentTo | Familial hyperaldosteronism type III | | | -| MONDO:0860727 | spinocerebellar ataxia type 19/22 | GARD:12365 | MONDO:equivalentTo | Spinocerebellar ataxia type 19/22 | | | -| MONDO:0860728 | spinocerebellar ataxia type 35 | GARD:12366 | MONDO:equivalentTo | Spinocerebellar ataxia type 35 | | | -| MONDO:0860729 | spinocerebellar ataxia type 36 | GARD:12367 | MONDO:equivalentTo | Spinocerebellar ataxia type 36 | | | -| MONDO:0860730 | spinocerebellar ataxia type 37 | GARD:12368 | MONDO:equivalentTo | Spinocerebellar ataxia type 37 | | | -| MONDO:0860731 | spinocerebellar ataxia type 38 | GARD:12369 | MONDO:equivalentTo | Spinocerebellar ataxia type 38 | | | -| MONDO:0860732 | char syndrome | GARD:1237 | MONDO:equivalentTo | Char syndrome | | | -| MONDO:0860733 | spinocerebellar ataxia type 40 | GARD:12371 | MONDO:equivalentTo | Spinocerebellar ataxia type 40 | | | -| MONDO:0860734 | autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | GARD:12372 | MONDO:equivalentTo | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | | | -| MONDO:0860735 | idiopathic cd4 lymphocytopenia | GARD:12375 | MONDO:equivalentTo | Idiopathic CD4 lymphocytopenia | | | -| MONDO:0860736 | sudden infant death-dysgenesis of the testes syndrome | GARD:12382 | MONDO:equivalentTo | Sudden infant death-dysgenesis of the testes syndrome | | | -| MONDO:0860737 | vasculitis due to ada2 deficiency | GARD:12383 | MONDO:equivalentTo | Vasculitis due to ADA2 deficiency | | | -| MONDO:0860738 | hypopigmentation-punctate palmoplantar keratoderma syndrome | GARD:12384 | MONDO:equivalentTo | Hypopigmentation-punctate palmoplantar keratoderma syndrome | | | -| MONDO:0860739 | male infertility due to large-headed multiflagellar polyploid spermatozoa | GARD:12385 | MONDO:equivalentTo | Male infertility due to large-headed multiflagellar polyploid spermatozoa | | | -| MONDO:0860740 | proximal 16p11.2 microduplication syndrome | GARD:12388 | MONDO:equivalentTo | Proximal 16p11.2 microduplication syndrome | | | -| MONDO:0860741 | schnitzler syndrome | GARD:12390 | MONDO:equivalentTo | Schnitzler syndrome | | | -| MONDO:0860742 | dk1-cdg | GARD:12393 | MONDO:equivalentTo | DK1-CDG | | | -| MONDO:0860743 | rft1-cdg | GARD:12394 | MONDO:equivalentTo | RFT1-CDG | | | -| MONDO:0860744 | dpm3-cdg | GARD:12395 | MONDO:equivalentTo | DPM3-CDG | | | -| MONDO:0860745 | alg11-cdg | GARD:12396 | MONDO:equivalentTo | ALG11-CDG | | | -| MONDO:0860746 | srd5a3-cdg | GARD:12397 | MONDO:equivalentTo | SRD5A3-CDG | | | -| MONDO:0860747 | ddost-cdg | GARD:12398 | MONDO:equivalentTo | DDOST-CDG | | | -| MONDO:0860748 | x-linked charcot-marie-tooth disease type 4 | GARD:1240 | MONDO:equivalentTo | X-linked Charcot-Marie-Tooth disease type 4 | | | -| MONDO:0860749 | alg13-cdg | GARD:12401 | MONDO:equivalentTo | ALG13-CDG | | | -| MONDO:0860750 | slc35a2-cdg | GARD:12403 | MONDO:equivalentTo | SLC35A2-CDG | | | -| MONDO:0860751 | ssr4-cdg | GARD:12405 | MONDO:equivalentTo | SSR4-CDG | | | -| MONDO:0860752 | slc35a1-cdg | GARD:12409 | MONDO:equivalentTo | SLC35A1-CDG | | | -| MONDO:0860753 | cog8-cdg | GARD:12411 | MONDO:equivalentTo | COG8-CDG | | | -| MONDO:0860754 | cog4-cdg | GARD:12412 | MONDO:equivalentTo | COG4-CDG | | | -| MONDO:0860755 | tmem165-cdg | GARD:12413 | MONDO:equivalentTo | TMEM165-CDG | | | -| MONDO:0860756 | congenital muscular dystrophy with intellectual disability and severe epilepsy | GARD:12416 | MONDO:equivalentTo | Congenital muscular dystrophy with intellectual disability and severe epilepsy | | | -| MONDO:0860757 | man1b1-cdg | GARD:12417 | MONDO:equivalentTo | MAN1B1-CDG | | | -| MONDO:0860758 | partial duplication of the short arm of chromosome x | GARD:12421 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome X | | | -| MONDO:0860759 | congenital intrauterine infection-like syndrome | GARD:12426 | MONDO:equivalentTo | Congenital intrauterine infection-like syndrome | | | -| MONDO:0860760 | cutaneous collagenous vasculopathy | GARD:12428 | MONDO:equivalentTo | Cutaneous collagenous vasculopathy | | | -| MONDO:0860761 | autosomal dominant charcot-marie-tooth disease type 2n | GARD:12429 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2N | | | -| MONDO:0860762 | x-linked charcot-marie-tooth disease type 2 | GARD:1243 | MONDO:equivalentTo | X-linked Charcot-Marie-Tooth disease type 2 | | | -| MONDO:0860763 | autosomal dominant charcot-marie-tooth disease type 2 | GARD:12431 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2 | | | -| MONDO:0860764 | autosomal dominant charcot-marie-tooth disease type 2l | GARD:12432 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2L | | | -| MONDO:0860765 | charcot-marie-tooth disease type 1 | GARD:12433 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 1 | | | -| MONDO:0860766 | autosomal dominant charcot-marie-tooth disease type 2o | GARD:12434 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2O | | | -| MONDO:0860767 | charcot-marie-tooth disease type 2p | GARD:12435 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 2P | | | -| MONDO:0860768 | autosomal dominant intermediate charcot-marie-tooth disease | GARD:12436 | MONDO:equivalentTo | Autosomal dominant intermediate Charcot-Marie-Tooth disease | | | -| MONDO:0860769 | autosomal dominant intermediate charcot-marie-tooth disease type a | GARD:12437 | MONDO:equivalentTo | Autosomal dominant intermediate Charcot-Marie-Tooth disease type A | | | -| MONDO:0860770 | autosomal dominant intermediate charcot-marie-tooth disease type b | GARD:12438 | MONDO:equivalentTo | Autosomal dominant intermediate Charcot-Marie-Tooth disease type B | | | -| MONDO:0860771 | autosomal dominant intermediate charcot-marie-tooth disease type c | GARD:12439 | MONDO:equivalentTo | Autosomal dominant intermediate Charcot-Marie-Tooth disease type C | | | -| MONDO:0860772 | x-linked charcot-marie-tooth disease type 3 | GARD:1244 | MONDO:equivalentTo | X-linked Charcot-Marie-Tooth disease type 3 | | | -| MONDO:0860773 | charcot-marie-tooth disease type 4 | GARD:12440 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 4 | | | -| MONDO:0860774 | charcot-marie-tooth disease type 4f | GARD:12441 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 4F | | | -| MONDO:0860775 | charcot-marie-tooth disease type 4h | GARD:12442 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 4H | | | -| MONDO:0860776 | charcot-marie-tooth disease type 4j | GARD:12443 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 4J | | | -| MONDO:0860777 | x-linked charcot-marie-tooth disease | GARD:12444 | MONDO:equivalentTo | X-linked Charcot-Marie-Tooth disease | | | -| MONDO:0860778 | x-linked charcot-marie-tooth disease type 6 | GARD:12445 | MONDO:equivalentTo | X-linked Charcot-Marie-Tooth disease type 6 | | | -| MONDO:0860779 | autosomal dominant charcot-marie-tooth disease type 2q | GARD:12446 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2Q | | | -| MONDO:0860780 | autosomal dominant charcot-marie-tooth disease type 2 with giant axons | GARD:12447 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | | | -| MONDO:0860781 | autosomal recessive charcot-marie-tooth disease with hoarseness | GARD:12448 | MONDO:equivalentTo | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | -| MONDO:0860782 | autosomal recessive axonal hereditary motor and sensory neuropathy | GARD:12449 | MONDO:equivalentTo | Autosomal recessive axonal hereditary motor and sensory neuropathy | | | -| MONDO:0860783 | charcot-marie-tooth disease type 1a | GARD:1245 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 1A | | | -| MONDO:0860784 | charcot-marie-tooth disease type 2r | GARD:12451 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 2R | | | -| MONDO:0860785 | autosomal recessive intermediate charcot-marie-tooth disease | GARD:12452 | MONDO:equivalentTo | Autosomal recessive intermediate Charcot-Marie-Tooth disease | | | -| MONDO:0860786 | autosomal recessive intermediate charcot-marie-tooth disease type a | GARD:12453 | MONDO:equivalentTo | Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | | | -| MONDO:0860787 | autosomal recessive intermediate charcot-marie-tooth disease type b | GARD:12454 | MONDO:equivalentTo | Autosomal recessive intermediate Charcot-Marie-Tooth disease type B | | | -| MONDO:0860788 | sickle cell-hemoglobin d disease syndrome | GARD:12458 | MONDO:equivalentTo | Sickle cell-hemoglobin D disease syndrome | | | -| MONDO:0860789 | sickle cell disease associated with another hemoglobin anomaly | GARD:12459 | MONDO:equivalentTo | Sickle cell disease associated with another hemoglobin anomaly | | | -| MONDO:0860790 | charcot-marie-tooth disease type 1b | GARD:1246 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 1B | | | -| MONDO:0860791 | glutaric acidemia type 3 | GARD:12469 | MONDO:equivalentTo | Glutaric acidemia type 3 | | | -| MONDO:0860792 | charcot-marie-tooth disease type 1c | GARD:1247 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 1C | | | -| MONDO:0860793 | peroxisomal beta-oxidation disorder | GARD:12470 | MONDO:equivalentTo | Peroxisomal beta-oxidation disorder | | | -| MONDO:0860794 | leukoencephalopathy-dystonia-motor neuropathy syndrome | GARD:12471 | MONDO:equivalentTo | Leukoencephalopathy-dystonia-motor neuropathy syndrome | | | -| MONDO:0860795 | cadds | GARD:12472 | MONDO:equivalentTo | CADDS | | | -| MONDO:0860796 | periodontal ehlers-danlos syndrome | GARD:12474 | MONDO:equivalentTo | Periodontal Ehlers-Danlos syndrome | | | -| MONDO:0860797 | disorder of peroxisomal alpha-, beta- and omega-oxidation | GARD:12476 | MONDO:equivalentTo | Disorder of peroxisomal alpha-, beta- and omega-oxidation | | | -| MONDO:0860798 | bleeding disorder due to p2y12 defect | GARD:12478 | MONDO:equivalentTo | Bleeding disorder due to P2Y12 defect | | | -| MONDO:0860799 | autosomal dominant charcot-marie-tooth disease type 2a1 | GARD:1248 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2A1 | | | -| MONDO:0860800 | tetrasomy 21 | GARD:12480 | MONDO:equivalentTo | Tetrasomy 21 | | | -| MONDO:0860801 | cor triatriatum dexter | GARD:12483 | MONDO:equivalentTo | Cor triatriatum dexter | | | -| MONDO:0860802 | cor triatriatum sinister | GARD:12484 | MONDO:equivalentTo | Cor triatriatum sinister | | | -| MONDO:0860803 | corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | GARD:12486 | MONDO:equivalentTo | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | | | -| MONDO:0860804 | intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | GARD:12487 | MONDO:equivalentTo | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | | | -| MONDO:0860805 | charcot-marie-tooth disease type 2b2 | GARD:1249 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 2B2 | | | -| MONDO:0860806 | x-linked lissencephaly with abnormal genitalia | GARD:12491 | MONDO:equivalentTo | X-linked lissencephaly with abnormal genitalia | | | -| MONDO:0860807 | 20p12.3 microdeletion syndrome | GARD:12492 | MONDO:equivalentTo | 20p12.3 microdeletion syndrome | | | -| MONDO:0860808 | aromatase excess syndrome | GARD:12494 | MONDO:equivalentTo | Aromatase excess syndrome | | | -| MONDO:0860809 | acrokeratoelastoidosis of costa | GARD:125 | MONDO:equivalentTo | Acrokeratoelastoidosis of Costa | | | -| MONDO:0860810 | autosomal dominant charcot-marie-tooth disease type 2c | GARD:1250 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2C | | | -| MONDO:0860811 | intellectual disability-severe speech delay-mild dysmorphism syndrome | GARD:12501 | MONDO:equivalentTo | Intellectual disability-severe speech delay-mild dysmorphism syndrome | | | -| MONDO:0860812 | male infertility due to globozoospermia | GARD:12502 | MONDO:equivalentTo | Male infertility due to globozoospermia | | | -| MONDO:0860813 | atypical gaucher disease due to saposin c deficiency | GARD:12503 | MONDO:equivalentTo | Atypical Gaucher disease due to saposin C deficiency | | | -| MONDO:0860814 | gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | GARD:12504 | MONDO:equivalentTo | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | | | -| MONDO:0860815 | encephalopathy due to prosaposin deficiency | GARD:12505 | MONDO:equivalentTo | Encephalopathy due to prosaposin deficiency | | | -| MONDO:0860816 | autosomal dominant charcot-marie-tooth disease type 2d | GARD:1251 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2D | | | -| MONDO:0860817 | gangliosidosis | GARD:12510 | MONDO:equivalentTo | Gangliosidosis | | | -| MONDO:0860818 | lipid storage disease | GARD:12511 | MONDO:equivalentTo | Lipid storage disease | | | -| MONDO:0860819 | male infertility with spermatogenesis disorder due to single gene mutation | GARD:12513 | MONDO:equivalentTo | Male infertility with spermatogenesis disorder due to single gene mutation | | | -| MONDO:0860820 | charcot-marie-tooth disease type 4a | GARD:1252 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 4A | | | -| MONDO:0860821 | igg4-related disease | GARD:12521 | MONDO:equivalentTo | IgG4-related disease | | | -| MONDO:0860822 | l1 syndrome | GARD:12524 | MONDO:equivalentTo | L1 syndrome | | | -| MONDO:0860823 | x-linked complicated spastic paraplegia type 1 | GARD:12525 | MONDO:equivalentTo | X-linked complicated spastic paraplegia type 1 | | | -| MONDO:0860824 | x-linked complicated corpus callosum dysgenesis | GARD:12526 | MONDO:equivalentTo | X-linked complicated corpus callosum dysgenesis | | | -| MONDO:0860825 | dnajb6-related limb-girdle muscular dystrophy d1 | GARD:12528 | MONDO:equivalentTo | DNAJB6-related limb-girdle muscular dystrophy D1 | | | -| MONDO:0860826 | charcot-marie-tooth disease type 4b1 | GARD:1253 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 4B1 | | | -| MONDO:0860827 | tnp03-related limb-girdle muscular dystrophy d2 | GARD:12530 | MONDO:equivalentTo | TNP03-related limb-girdle muscular dystrophy D2 | | | -| MONDO:0860828 | hnrnpdl-related limb-girdle muscular dystrophy d3 | GARD:12531 | MONDO:equivalentTo | HNRNPDL-related limb-girdle muscular dystrophy D3 | | | -| MONDO:0860829 | autosomal dominant limb-girdle muscular dystrophy type 1h | GARD:12532 | MONDO:equivalentTo | Autosomal dominant limb-girdle muscular dystrophy type 1H | | | -| MONDO:0860830 | fkrp-related limb-girdle muscular dystrophy r9 | GARD:12533 | MONDO:equivalentTo | FKRP-related limb-girdle muscular dystrophy R9 | | | -| MONDO:0860831 | titin-related limb-girdle muscular dystrophy r10 | GARD:12534 | MONDO:equivalentTo | Titin-related limb-girdle muscular dystrophy R10 | | | -| MONDO:0860832 | pomt1-related limb-girdle muscular dystrophy r11 | GARD:12535 | MONDO:equivalentTo | POMT1-related limb-girdle muscular dystrophy R11 | | | -| MONDO:0860833 | anoctamin-5-related limb-girdle muscular dystrophy r12 | GARD:12536 | MONDO:equivalentTo | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | -| MONDO:0860834 | fukutin-related limb-girdle muscular dystrophy r13 | GARD:12538 | MONDO:equivalentTo | Fukutin-related limb-girdle muscular dystrophy R13 | | | -| MONDO:0860835 | pomt2-related limb-girdle muscular dystrophy r14 | GARD:12539 | MONDO:equivalentTo | POMT2-related limb-girdle muscular dystrophy R14 | | | -| MONDO:0860836 | pomgnt1-related limb-girdle muscular dystrophy r15 | GARD:12540 | MONDO:equivalentTo | POMGNT1-related limb-girdle muscular dystrophy R15 | | | -| MONDO:0860837 | alpha-dystroglycan-related limb-girdle muscular dystrophy r16 | GARD:12541 | MONDO:equivalentTo | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | | | -| MONDO:0860838 | plectin-related limb-girdle muscular dystrophy r17 | GARD:12542 | MONDO:equivalentTo | Plectin-related limb-girdle muscular dystrophy R17 | | | -| MONDO:0860839 | trappc11-related limb-girdle muscular dystrophy r18 | GARD:12543 | MONDO:equivalentTo | TRAPPC11-related limb-girdle muscular dystrophy R18 | | | -| MONDO:0860840 | gmppb-related limb-girdle muscular dystrophy r19 | GARD:12544 | MONDO:equivalentTo | GMPPB-related limb-girdle muscular dystrophy R19 | | | -| MONDO:0860841 | selective igm deficiency | GARD:12547 | MONDO:equivalentTo | Selective IgM deficiency | | | -| MONDO:0860842 | isolated congenital adermatoglyphia | GARD:12550 | MONDO:equivalentTo | Isolated congenital adermatoglyphia | | | -| MONDO:0860843 | familial congenital mirror movements | GARD:12551 | MONDO:equivalentTo | Familial congenital mirror movements | | | -| MONDO:0860844 | non-acquired isolated growth hormone deficiency | GARD:12556 | MONDO:equivalentTo | Non-acquired isolated growth hormone deficiency | | | -| MONDO:0860845 | hurler syndrome | GARD:12559 | MONDO:equivalentTo | Hurler syndrome | | | -| MONDO:0860846 | hurler-scheie syndrome | GARD:12560 | MONDO:equivalentTo | Hurler-Scheie syndrome | | | -| MONDO:0860847 | scheie syndrome | GARD:12561 | MONDO:equivalentTo | Scheie syndrome | | | -| MONDO:0860848 | mucopolysaccharidosis type 4 | GARD:12562 | MONDO:equivalentTo | Mucopolysaccharidosis type 4 | | | -| MONDO:0860849 | pla2g6-associated neurodegeneration | GARD:12567 | MONDO:equivalentTo | PLA2G6-associated neurodegeneration | | | -| MONDO:0860850 | adult-onset dystonia-parkinsonism | GARD:12568 | MONDO:equivalentTo | Adult-onset dystonia-parkinsonism | | | -| MONDO:0860851 | mitochondrial membrane protein-associated neurodegeneration | GARD:12569 | MONDO:equivalentTo | Mitochondrial membrane protein-associated neurodegeneration | | | -| MONDO:0860852 | beta-propeller protein-associated neurodegeneration | GARD:12570 | MONDO:equivalentTo | Beta-propeller protein-associated neurodegeneration | | | -| MONDO:0860853 | coasy protein-associated neurodegeneration | GARD:12571 | MONDO:equivalentTo | COASY protein-associated neurodegeneration | | | -| MONDO:0860854 | x-linked charcot-marie-tooth disease type 1 | GARD:1258 | MONDO:equivalentTo | X-linked Charcot-Marie-Tooth disease type 1 | | | -| MONDO:0860855 | congenital muscular dystrophy due to dystroglycanopathy | GARD:12584 | MONDO:equivalentTo | Congenital muscular dystrophy due to dystroglycanopathy | | | -| MONDO:0860856 | congenital muscular dystrophy due to lmna mutation | GARD:12585 | MONDO:equivalentTo | Congenital muscular dystrophy due to LMNA mutation | | | -| MONDO:0860857 | congenital muscular dystrophy type 1b | GARD:12586 | MONDO:equivalentTo | Congenital muscular dystrophy type 1B | | | -| MONDO:0860858 | congenital muscular dystrophy with integrin alpha-7 deficiency | GARD:12587 | MONDO:equivalentTo | Congenital muscular dystrophy with integrin alpha-7 deficiency | | | -| MONDO:0860859 | congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | GARD:12588 | MONDO:equivalentTo | Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | | | -| MONDO:0860860 | congenital fibrosis of extraocular muscles | GARD:12590 | MONDO:equivalentTo | Congenital fibrosis of extraocular muscles | | | -| MONDO:0860861 | hereditary myopathy with early respiratory failure | GARD:12591 | MONDO:equivalentTo | Hereditary myopathy with early respiratory failure | | | -| MONDO:0860862 | oculopharyngodistal myopathy | GARD:12592 | MONDO:equivalentTo | Oculopharyngodistal myopathy | | | -| MONDO:0860863 | primary lipodystrophy | GARD:12596 | MONDO:equivalentTo | Primary lipodystrophy | | | -| MONDO:0860864 | genetic lipodystrophy | GARD:12597 | MONDO:equivalentTo | Genetic lipodystrophy | | | -| MONDO:0860865 | familial partial lipodystrophy, köbberling type | GARD:12598 | MONDO:equivalentTo | Familial partial lipodystrophy, Köbberling type | | | -| MONDO:0860866 | akt2-related familial partial lipodystrophy | GARD:12599 | MONDO:equivalentTo | AKT2-related familial partial lipodystrophy | | | -| MONDO:0860867 | pparg-related familial partial lipodystrophy | GARD:12600 | MONDO:equivalentTo | PPARG-related familial partial lipodystrophy | | | -| MONDO:0860868 | plin1-related familial partial lipodystrophy | GARD:12601 | MONDO:equivalentTo | PLIN1-related familial partial lipodystrophy | | | -| MONDO:0860869 | acquired lipodystrophy | GARD:12602 | MONDO:equivalentTo | Acquired lipodystrophy | | | -| MONDO:0860870 | acquired generalized lipodystrophy | GARD:12603 | MONDO:equivalentTo | Acquired generalized lipodystrophy | | | -| MONDO:0860871 | lipodystrophy due to peptidic growth factors deficiency | GARD:12604 | MONDO:equivalentTo | Lipodystrophy due to peptidic growth factors deficiency | | | -| MONDO:0860872 | charlie m syndrome | GARD:1261 | MONDO:equivalentTo | Charlie M syndrome | | | -| MONDO:0860873 | slc39a13-related spondylodysplastic ehlers-danlos syndrome | GARD:12610 | MONDO:equivalentTo | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | | | -| MONDO:0860874 | cardiac-valvular ehlers-danlos syndrome | GARD:12613 | MONDO:equivalentTo | Cardiac-valvular Ehlers-Danlos syndrome | | | -| MONDO:0860875 | methylmalonic acidemia with homocystinuria, type cblj | GARD:12621 | MONDO:equivalentTo | Methylmalonic acidemia with homocystinuria, type cblJ | | | -| MONDO:0860876 | vitamin b12-responsive methylmalonic acidemia | GARD:12623 | MONDO:equivalentTo | Vitamin B12-responsive methylmalonic acidemia | | | -| MONDO:0860877 | stapes ankylosis with broad thumbs and toes | GARD:12631 | MONDO:equivalentTo | Stapes ankylosis with broad thumbs and toes | | | -| MONDO:0860878 | multiple mitochondrial dysfunctions syndrome | GARD:12632 | MONDO:equivalentTo | Multiple mitochondrial dysfunctions syndrome | | | -| MONDO:0860879 | laurence-moon syndrome | GARD:12635 | MONDO:equivalentTo | Laurence-Moon syndrome | | | -| MONDO:0860880 | bacterial susceptibility due to tlr signaling pathway deficiency | GARD:12638 | MONDO:equivalentTo | Bacterial susceptibility due to TLR signaling pathway deficiency | | | -| MONDO:0860881 | frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | GARD:12640 | MONDO:equivalentTo | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | | | -| MONDO:0860882 | frontonasal dysplasia-alopecia-genital anomalies syndrome | GARD:12641 | MONDO:equivalentTo | Frontonasal dysplasia-alopecia-genital anomalies syndrome | | | -| MONDO:0860883 | frontorhiny | GARD:12642 | MONDO:equivalentTo | Frontorhiny | | | -| MONDO:0860884 | lethal congenital contracture syndrome | GARD:12643 | MONDO:equivalentTo | Lethal congenital contracture syndrome | | | -| MONDO:0860885 | lethal congenital contracture syndrome type 3 | GARD:12644 | MONDO:equivalentTo | Lethal congenital contracture syndrome type 3 | | | -| MONDO:0860886 | isolated congenital megalocornea | GARD:12648 | MONDO:equivalentTo | Isolated congenital megalocornea | | | -| MONDO:0860887 | amoebiasis due to free-living amoebae | GARD:12650 | MONDO:equivalentTo | Amoebiasis due to free-living amoebae | | | -| MONDO:0860888 | leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | GARD:12652 | MONDO:equivalentTo | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | | | -| MONDO:0860889 | dock2 deficiency | GARD:12653 | MONDO:equivalentTo | DOCK2 deficiency | | | -| MONDO:0860890 | castleman disease | GARD:12656 | MONDO:equivalentTo | Castleman disease | | | -| MONDO:0860891 | cerebrofacial arteriovenous metameric syndrome | GARD:12662 | MONDO:equivalentTo | Cerebrofacial arteriovenous metameric syndrome | | | -| MONDO:0860892 | facial arteriovenous malformation | GARD:12663 | MONDO:equivalentTo | Facial arteriovenous malformation | | | -| MONDO:0860893 | congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency | GARD:12664 | MONDO:equivalentTo | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | -| MONDO:0860894 | classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | GARD:12665 | MONDO:equivalentTo | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | | | -| MONDO:0860895 | x-linked intellectual disability, najm type | GARD:12669 | MONDO:equivalentTo | X-linked intellectual disability, Najm type | | | -| MONDO:0860896 | actinic lichen planus | GARD:12673 | MONDO:equivalentTo | Actinic lichen planus | | | -| MONDO:0860897 | annular lichen planus | GARD:12674 | MONDO:equivalentTo | Annular lichen planus | | | -| MONDO:0860898 | atrophic lichen planus | GARD:12675 | MONDO:equivalentTo | Atrophic lichen planus | | | -| MONDO:0860899 | annular atrophic lichen planus | GARD:12676 | MONDO:equivalentTo | Annular atrophic lichen planus | | | -| MONDO:0860900 | lichen planus pemphigoides | GARD:12677 | MONDO:equivalentTo | Lichen planus pemphigoides | | | -| MONDO:0860901 | lipoic acid synthetase deficiency | GARD:12678 | MONDO:equivalentTo | Lipoic acid synthetase deficiency | | | -| MONDO:0860902 | lipoic acid biosynthesis defect | GARD:12679 | MONDO:equivalentTo | Lipoic acid biosynthesis defect | | | -| MONDO:0860903 | lipoyl transferase 1 deficiency | GARD:12680 | MONDO:equivalentTo | Lipoyl transferase 1 deficiency | | | -| MONDO:0860904 | childhood-onset spasticity with hyperglycinemia | GARD:12681 | MONDO:equivalentTo | Childhood-onset spasticity with hyperglycinemia | | | -| MONDO:0860905 | horizontal gaze palsy with progressive scoliosis | GARD:12682 | MONDO:equivalentTo | Horizontal gaze palsy with progressive scoliosis | | | -| MONDO:0860906 | distal hereditary motor neuropathy | GARD:12683 | MONDO:equivalentTo | Distal hereditary motor neuropathy | | | -| MONDO:0860907 | familial episodic pain syndrome | GARD:12684 | MONDO:equivalentTo | Familial episodic pain syndrome | | | -| MONDO:0860908 | diffuse cutaneous mastocytosis | GARD:12686 | MONDO:equivalentTo | Diffuse cutaneous mastocytosis | | | -| MONDO:0860909 | cutaneous mastocytoma | GARD:12687 | MONDO:equivalentTo | Cutaneous mastocytoma | | | -| MONDO:0860910 | hereditary sensory and autonomic neuropathy | GARD:12688 | MONDO:equivalentTo | Hereditary sensory and autonomic neuropathy | | | -| MONDO:0860911 | tumor of cranial and spinal nerves | GARD:12697 | MONDO:equivalentTo | Tumor of cranial and spinal nerves | | | -| MONDO:0860912 | perineurioma | GARD:12698 | MONDO:equivalentTo | Perineurioma | | | -| MONDO:0860913 | summitt syndrome | GARD:127 | MONDO:equivalentTo | Summitt syndrome | | | -| MONDO:0860914 | osteochondritis dissecans | GARD:12703 | MONDO:equivalentTo | Osteochondritis dissecans | | | -| MONDO:0860915 | osteochondrosis | GARD:12704 | MONDO:equivalentTo | Osteochondrosis | | | -| MONDO:0860916 | painful legs and moving toes syndrome | GARD:12706 | MONDO:equivalentTo | Painful legs and moving toes syndrome | | | -| MONDO:0860917 | congenital laryngeal palsy | GARD:12713 | MONDO:equivalentTo | Congenital laryngeal palsy | | | -| MONDO:0860918 | x-linked intellectual disability-hypotonia-movement disorder syndrome | GARD:12715 | MONDO:equivalentTo | X-linked intellectual disability-hypotonia-movement disorder syndrome | | | -| MONDO:0860919 | elastoderma | GARD:12716 | MONDO:equivalentTo | Elastoderma | | | -| MONDO:0860920 | autosomal recessive centronuclear myopathy | GARD:12718 | MONDO:equivalentTo | Autosomal recessive centronuclear myopathy | | | -| MONDO:0860921 | autosomal dominant centronuclear myopathy | GARD:12719 | MONDO:equivalentTo | Autosomal dominant centronuclear myopathy | | | -| MONDO:0860922 | fingerprint body myopathy | GARD:12720 | MONDO:equivalentTo | Fingerprint body myopathy | | | -| MONDO:0860923 | familial dyskinesia and facial myokymia | GARD:12722 | MONDO:equivalentTo | Familial dyskinesia and facial myokymia | | | -| MONDO:0860924 | periventricular nodular heterotopia | GARD:12724 | MONDO:equivalentTo | Periventricular nodular heterotopia | | | -| MONDO:0860925 | x-linked hereditary sensory and autonomic neuropathy with deafness | GARD:12731 | MONDO:equivalentTo | X-linked hereditary sensory and autonomic neuropathy with deafness | | | -| MONDO:0860926 | hereditary sensory and autonomic neuropathy type 7 | GARD:12732 | MONDO:equivalentTo | Hereditary sensory and autonomic neuropathy type 7 | | | -| MONDO:0860927 | rare hereditary disease with peripheral neuropathy | GARD:12733 | MONDO:equivalentTo | Rare hereditary disease with peripheral neuropathy | | | -| MONDO:0860928 | glomerular disease | GARD:12736 | MONDO:equivalentTo | Glomerular disease | | | -| MONDO:0860929 | pierre robin syndrome-faciodigital anomaly syndrome | GARD:1274 | MONDO:equivalentTo | Pierre Robin syndrome-faciodigital anomaly syndrome | | | -| MONDO:0860930 | non-amyloid fibrillary glomerulopathy | GARD:12740 | MONDO:equivalentTo | Non-amyloid fibrillary glomerulopathy | | | -| MONDO:0860931 | immunotactoid or fibrillary glomerulopathy | GARD:12741 | MONDO:equivalentTo | Immunotactoid or fibrillary glomerulopathy | | | -| MONDO:0860932 | juvenile polymyositis | GARD:12742 | MONDO:equivalentTo | Juvenile polymyositis | | | -| MONDO:0860933 | chronic intestinal pseudoobstruction | GARD:12744 | MONDO:equivalentTo | Chronic intestinal pseudoobstruction | | | -| MONDO:0860934 | autosomal recessive spastic paraplegia type 32 | GARD:12749 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 32 | | | -| MONDO:0860935 | acute myeloid leukemia | GARD:12757 | MONDO:equivalentTo | Acute myeloid leukemia | | | -| MONDO:0860936 | acute myeloid leukemia with recurrent genetic anomaly | GARD:12758 | MONDO:equivalentTo | Acute myeloid leukemia with recurrent genetic anomaly | | | -| MONDO:0860937 | acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) | GARD:12759 | MONDO:equivalentTo | Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) | | | -| MONDO:0860938 | unclassified acute myeloid leukemia | GARD:12760 | MONDO:equivalentTo | Unclassified acute myeloid leukemia | | | -| MONDO:0860939 | acute myeloid leukaemia with myelodysplasia-related features | GARD:12761 | MONDO:equivalentTo | Acute myeloid leukaemia with myelodysplasia-related features | | | -| MONDO:0860940 | therapy related acute myeloid leukemia and myelodysplastic syndrome | GARD:12762 | MONDO:equivalentTo | Therapy related acute myeloid leukemia and myelodysplastic syndrome | | | -| MONDO:0860941 | myeloid sarcoma | GARD:12763 | MONDO:equivalentTo | Myeloid sarcoma | | | -| MONDO:0860942 | transient myeloproliferative syndrome | GARD:12765 | MONDO:equivalentTo | Transient myeloproliferative syndrome | | | -| MONDO:0860943 | microduplication xp11.22p11.23 syndrome | GARD:12766 | MONDO:equivalentTo | Microduplication Xp11.22p11.23 syndrome | | | -| MONDO:0860944 | reversible cerebral vasoconstriction syndrome | GARD:12768 | MONDO:equivalentTo | Reversible cerebral vasoconstriction syndrome | | | -| MONDO:0860945 | rare malignant breast tumor | GARD:12772 | MONDO:equivalentTo | Rare malignant breast tumor | | | -| MONDO:0860946 | rare adenocarcinoma of the breast | GARD:12773 | MONDO:equivalentTo | Rare adenocarcinoma of the breast | | | -| MONDO:0860947 | salivary gland type cancer of the breast | GARD:12774 | MONDO:equivalentTo | Salivary gland type cancer of the breast | | | -| MONDO:0860948 | rare benign breast tumor | GARD:12775 | MONDO:equivalentTo | Rare benign breast tumor | | | -| MONDO:0860949 | multiple congenital anomalies-hypotonia-seizures syndrome type 2 | GARD:12777 | MONDO:equivalentTo | Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | | | -| MONDO:0860950 | familial retinal arterial macroaneurysm | GARD:12779 | MONDO:equivalentTo | Familial retinal arterial macroaneurysm | | | -| MONDO:0860951 | multiple congenital anomalies-hypotonia-seizures syndrome | GARD:12781 | MONDO:equivalentTo | Multiple congenital anomalies-hypotonia-seizures syndrome | | | -| MONDO:0860952 | congenital disorder of glycosylation with developmental anomaly | GARD:12782 | MONDO:equivalentTo | Congenital disorder of glycosylation with developmental anomaly | | | -| MONDO:0860953 | livedoid vasculopathy | GARD:12784 | MONDO:equivalentTo | Livedoid vasculopathy | | | -| MONDO:0860954 | autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | GARD:12794 | MONDO:equivalentTo | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | | | -| MONDO:0860955 | dentinogenesis imperfecta type 2 | GARD:12796 | MONDO:equivalentTo | Dentinogenesis imperfecta type 2 | | | -| MONDO:0860956 | early-onset autosomal dominant alzheimer disease | GARD:12798 | MONDO:equivalentTo | Early-onset autosomal dominant Alzheimer disease | | | -| MONDO:0860957 | primary sclerosing cholangitis | GARD:1280 | MONDO:equivalentTo | Primary sclerosing cholangitis | | | -| MONDO:0860958 | pten hamartoma tumor syndrome | GARD:12800 | MONDO:equivalentTo | PTEN hamartoma tumor syndrome | | | -| MONDO:0860959 | proteus-like syndrome | GARD:12801 | MONDO:equivalentTo | Proteus-like syndrome | | | -| MONDO:0860960 | autosomal dominant spondylocostal dysostosis | GARD:12806 | MONDO:equivalentTo | Autosomal dominant spondylocostal dysostosis | | | -| MONDO:0860961 | multisystemic smooth muscle dysfunction syndrome | GARD:12811 | MONDO:equivalentTo | Multisystemic smooth muscle dysfunction syndrome | | | -| MONDO:0860962 | 8q24.3 microdeletion syndrome | GARD:12814 | MONDO:equivalentTo | 8q24.3 microdeletion syndrome | | | -| MONDO:0860963 | severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | GARD:12815 | MONDO:equivalentTo | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | | | -| MONDO:0860964 | 8q12 microduplication syndrome | GARD:12816 | MONDO:equivalentTo | 8q12 microduplication syndrome | | | -| MONDO:0860965 | generalized pustular psoriasis | GARD:12819 | MONDO:equivalentTo | Generalized pustular psoriasis | | | -| MONDO:0860966 | pustulosis palmaris et plantaris | GARD:12820 | MONDO:equivalentTo | Pustulosis palmaris et plantaris | | | -| MONDO:0860967 | severe congenital nemaline myopathy | GARD:12821 | MONDO:equivalentTo | Severe congenital nemaline myopathy | | | -| MONDO:0860968 | typical nemaline myopathy | GARD:12822 | MONDO:equivalentTo | Typical nemaline myopathy | | | -| MONDO:0860969 | intermediate nemaline myopathy | GARD:12823 | MONDO:equivalentTo | Intermediate nemaline myopathy | | | -| MONDO:0860970 | adult-onset nemaline myopathy | GARD:12824 | MONDO:equivalentTo | Adult-onset nemaline myopathy | | | -| MONDO:0860971 | foxg1 syndrome | GARD:12825 | MONDO:equivalentTo | FOXG1 syndrome | | | -| MONDO:0860972 | hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | GARD:12827 | MONDO:equivalentTo | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | | | -| MONDO:0860973 | pulmonary non-tuberculous mycobacterial infection | GARD:12829 | MONDO:equivalentTo | Pulmonary non-tuberculous mycobacterial infection | | | -| MONDO:0860974 | acute interstitial pneumonia | GARD:12835 | MONDO:equivalentTo | Acute interstitial pneumonia | | | -| MONDO:0860975 | disseminated peritoneal leiomyomatosis | GARD:12843 | MONDO:equivalentTo | Disseminated peritoneal leiomyomatosis | | | -| MONDO:0860976 | high myopia-sensorineural deafness syndrome | GARD:12844 | MONDO:equivalentTo | High myopia-sensorineural deafness syndrome | | | -| MONDO:0860977 | cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | GARD:12845 | MONDO:equivalentTo | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | -| MONDO:0860978 | paroxysmal extreme pain disorder | GARD:12854 | MONDO:equivalentTo | Paroxysmal extreme pain disorder | | | -| MONDO:0860979 | spinocerebellar ataxia with axonal neuropathy type 2 | GARD:12860 | MONDO:equivalentTo | Spinocerebellar ataxia with axonal neuropathy type 2 | | | -| MONDO:0860980 | rfvt3-related riboflavin transporter deficiency | GARD:12861 | MONDO:equivalentTo | RFVT3-related riboflavin transporter deficiency | | | -| MONDO:0860981 | generalized peeling skin syndrome | GARD:12862 | MONDO:equivalentTo | Generalized peeling skin syndrome | | | -| MONDO:0860982 | acral peeling skin syndrome | GARD:12863 | MONDO:equivalentTo | Acral peeling skin syndrome | | | -| MONDO:0860983 | hyperlipidemia due to hepatic triacylglycerol lipase deficiency | GARD:12864 | MONDO:equivalentTo | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency | | | -| MONDO:0860984 | cushing disease | GARD:12867 | MONDO:equivalentTo | Cushing disease | | | -| MONDO:0860985 | irvan syndrome | GARD:12868 | MONDO:equivalentTo | IRVAN syndrome | | | -| MONDO:0860986 | progressive familial intrahepatic cholestasis type 2 | GARD:1288 | MONDO:equivalentTo | Progressive familial intrahepatic cholestasis type 2 | | | -| MONDO:0860987 | isolated childhood apraxia of speech | GARD:12889 | MONDO:equivalentTo | Isolated childhood apraxia of speech | | | -| MONDO:0860988 | progressive familial intrahepatic cholestasis type 3 | GARD:1289 | MONDO:equivalentTo | Progressive familial intrahepatic cholestasis type 3 | | | -| MONDO:0860989 | infantile hypertrophic cardiomyopathy due to mrpl44 deficiency | GARD:12892 | MONDO:equivalentTo | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | | | -| MONDO:0860990 | leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | GARD:12893 | MONDO:equivalentTo | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | | | -| MONDO:0860991 | zika virus disease | GARD:12894 | MONDO:equivalentTo | Zika virus disease | | | -| MONDO:0860992 | optic atrophy-intellectual disability syndrome | GARD:12903 | MONDO:equivalentTo | Optic atrophy-intellectual disability syndrome | | | -| MONDO:0860993 | polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | GARD:12913 | MONDO:equivalentTo | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | | | -| MONDO:0860994 | x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency | GARD:12915 | MONDO:equivalentTo | X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency | | | -| MONDO:0860995 | rh deficiency syndrome | GARD:12916 | MONDO:equivalentTo | Rh deficiency syndrome | | | -| MONDO:0860996 | malignant migrating focal seizures of infancy | GARD:12919 | MONDO:equivalentTo | Malignant migrating focal seizures of infancy | | | -| MONDO:0860997 | familial calcium pyrophosphate deposition | GARD:1292 | MONDO:equivalentTo | Familial calcium pyrophosphate deposition | | | -| MONDO:0860998 | late-onset junctional epidermolysis bullosa | GARD:12921 | MONDO:equivalentTo | Late-onset junctional epidermolysis bullosa | | | -| MONDO:0860999 | intermediate generalized junctional epidermolysis bullosa | GARD:12922 | MONDO:equivalentTo | Intermediate generalized junctional epidermolysis bullosa | | | -| MONDO:0861000 | localized junctional epidermolysis bullosa | GARD:12923 | MONDO:equivalentTo | Localized junctional epidermolysis bullosa | | | -| MONDO:0861001 | preeclampsia | GARD:12924 | MONDO:equivalentTo | Preeclampsia | | | -| MONDO:0861002 | familial multiple lipomatosis | GARD:12925 | MONDO:equivalentTo | Familial multiple lipomatosis | | | -| MONDO:0861003 | acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma | GARD:12927 | MONDO:equivalentTo | Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma | | | -| MONDO:0861004 | astrocytoma | GARD:12928 | MONDO:equivalentTo | Astrocytoma | | | -| MONDO:0861005 | adnp syndrome | GARD:12931 | MONDO:equivalentTo | ADNP syndrome | | | -| MONDO:0861006 | x-linked hypophosphatemia | GARD:12943 | MONDO:equivalentTo | X-linked hypophosphatemia | | | -| MONDO:0861007 | primary orthostatic hypotension | GARD:12959 | MONDO:equivalentTo | Primary orthostatic hypotension | | | -| MONDO:0861008 | brachytelephalangic chondrodysplasia punctata | GARD:1296 | MONDO:equivalentTo | Brachytelephalangic chondrodysplasia punctata | | | -| MONDO:0861009 | megdel syndrome | GARD:12963 | MONDO:equivalentTo | MEGDEL syndrome | | | -| MONDO:0861010 | dilated cardiomyopathy with ataxia | GARD:12964 | MONDO:equivalentTo | Dilated cardiomyopathy with ataxia | | | -| MONDO:0861011 | 3-methylglutaconic aciduria | GARD:12966 | MONDO:equivalentTo | 3-methylglutaconic aciduria | | | -| MONDO:0861012 | mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency | GARD:12976 | MONDO:equivalentTo | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | | | -| MONDO:0861013 | mendelian susceptibility to mycobacterial diseases | GARD:12977 | MONDO:equivalentTo | Mendelian susceptibility to mycobacterial diseases | | | -| MONDO:0861014 | proximal myopathy with extrapyramidal signs | GARD:12978 | MONDO:equivalentTo | Proximal myopathy with extrapyramidal signs | | | -| MONDO:0861015 | monoclonal mast cell activation syndrome | GARD:12980 | MONDO:equivalentTo | Monoclonal mast cell activation syndrome | | | -| MONDO:0861016 | hereditary folate malabsorption | GARD:12983 | MONDO:equivalentTo | Hereditary folate malabsorption | | | -| MONDO:0861017 | acyl-coa dehydrogenase 9 deficiency | GARD:12986 | MONDO:equivalentTo | Acyl-CoA dehydrogenase 9 deficiency | | | -| MONDO:0861018 | hereditary sensory and autonomic neuropathy type 6 | GARD:12987 | MONDO:equivalentTo | Hereditary sensory and autonomic neuropathy type 6 | | | -| MONDO:0861019 | aquagenic palmoplantar keratoderma | GARD:12991 | MONDO:equivalentTo | Aquagenic palmoplantar keratoderma | | | -| MONDO:0861020 | aniridia-cerebellar ataxia-intellectual disability syndrome | GARD:13 | MONDO:equivalentTo | Aniridia-cerebellar ataxia-intellectual disability syndrome | | | -| MONDO:0861021 | acromesomelic dysplasia, grebe type | GARD:1300 | MONDO:equivalentTo | Acromesomelic dysplasia, Grebe type | | | -| MONDO:0861022 | lupus erythematosus tumidus | GARD:13003 | MONDO:equivalentTo | Lupus erythematosus tumidus | | | -| MONDO:0861023 | hepatic veno-occlusive disease | GARD:13004 | MONDO:equivalentTo | Hepatic veno-occlusive disease | | | -| MONDO:0861024 | hemoglobin m disease | GARD:13007 | MONDO:equivalentTo | Hemoglobin M disease | | | -| MONDO:0861025 | ellis van creveld syndrome | GARD:1301 | MONDO:equivalentTo | Ellis Van Creveld syndrome | | | -| MONDO:0861026 | anti-neutrophil cytoplasmic antibody-associated vasculitis | GARD:13011 | MONDO:equivalentTo | Anti-neutrophil cytoplasmic antibody-associated vasculitis | | | -| MONDO:0861027 | obesity due to congenital leptin deficiency | GARD:13015 | MONDO:equivalentTo | Obesity due to congenital leptin deficiency | | | -| MONDO:0861028 | immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | GARD:13016 | MONDO:equivalentTo | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | | | -| MONDO:0861029 | microcystic lymphatic malformation | GARD:13020 | MONDO:equivalentTo | Microcystic lymphatic malformation | | | -| MONDO:0861030 | woolly hair nevus | GARD:13025 | MONDO:equivalentTo | Woolly hair nevus | | | -| MONDO:0861031 | chordoma | GARD:1303 | MONDO:equivalentTo | Chordoma | | | -| MONDO:0861032 | deafness-lymphedema-leukemia syndrome | GARD:13030 | MONDO:equivalentTo | Deafness-lymphedema-leukemia syndrome | | | -| MONDO:0861033 | cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation | GARD:13032 | MONDO:equivalentTo | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | | | -| MONDO:0861034 | neuroendocrine tumor of pancreas | GARD:13034 | MONDO:equivalentTo | Neuroendocrine tumor of pancreas | | | -| MONDO:0861035 | necrobiosis lipoidica | GARD:13040 | MONDO:equivalentTo | Necrobiosis lipoidica | | | -| MONDO:0861036 | intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | GARD:13043 | MONDO:equivalentTo | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | -| MONDO:0861037 | giant cell tumor of bone | GARD:13046 | MONDO:equivalentTo | Giant cell tumor of bone | | | -| MONDO:0861038 | germ cell tumor of testis | GARD:13047 | MONDO:equivalentTo | Germ cell tumor of testis | | | -| MONDO:0861039 | benign hereditary chorea | GARD:1305 | MONDO:equivalentTo | Benign hereditary chorea | | | -| MONDO:0861040 | congenital analbuminemia | GARD:13056 | MONDO:equivalentTo | Congenital analbuminemia | | | -| MONDO:0861041 | autosomal dominant multiple pterygium syndrome | GARD:13058 | MONDO:equivalentTo | Autosomal dominant multiple pterygium syndrome | | | -| MONDO:0861042 | distal arthrogryposis type 5d | GARD:13059 | MONDO:equivalentTo | Distal arthrogryposis type 5D | | | -| MONDO:0861043 | kcnq2-related epileptic encephalopathy | GARD:13060 | MONDO:equivalentTo | KCNQ2-related epileptic encephalopathy | | | -| MONDO:0861044 | bockenheimer syndrome | GARD:13063 | MONDO:equivalentTo | Bockenheimer syndrome | | | -| MONDO:0861045 | lewis-sumner syndrome | GARD:13070 | MONDO:equivalentTo | Lewis-Sumner syndrome | | | -| MONDO:0861046 | primary hypomagnesemia with secondary hypocalcemia | GARD:13072 | MONDO:equivalentTo | Primary hypomagnesemia with secondary hypocalcemia | | | -| MONDO:0861047 | nevus comedonicus syndrome | GARD:13073 | MONDO:equivalentTo | Nevus comedonicus syndrome | | | -| MONDO:0861048 | diffuse intrinsic pontine glioma | GARD:13075 | MONDO:equivalentTo | Diffuse intrinsic pontine glioma | | | -| MONDO:0861049 | corticosteroid-binding globulin deficiency | GARD:13101 | MONDO:equivalentTo | Corticosteroid-binding globulin deficiency | | | -| MONDO:0861050 | dent disease | GARD:13105 | MONDO:equivalentTo | Dent disease | | | -| MONDO:0861051 | mirage syndrome | GARD:13108 | MONDO:equivalentTo | MIRAGE syndrome | | | -| MONDO:0861052 | progressive encephalomyelitis with rigidity and myoclonus | GARD:13110 | MONDO:equivalentTo | Progressive encephalomyelitis with rigidity and myoclonus | | | -| MONDO:0861053 | ataxia-oculomotor apraxia type 4 | GARD:13111 | MONDO:equivalentTo | Ataxia-oculomotor apraxia type 4 | | | -| MONDO:0861054 | acute infantile liver failure-multisystemic involvement syndrome | GARD:13114 | MONDO:equivalentTo | Acute infantile liver failure-multisystemic involvement syndrome | | | -| MONDO:0861055 | chronic thromboembolic pulmonary hypertension | GARD:13124 | MONDO:equivalentTo | Chronic thromboembolic pulmonary hypertension | | | -| MONDO:0861056 | cidec-related familial partial lipodystrophy | GARD:13125 | MONDO:equivalentTo | CIDEC-related familial partial lipodystrophy | | | -| MONDO:0861057 | lipe-related familial partial lipodystrophy | GARD:13126 | MONDO:equivalentTo | LIPE-related familial partial lipodystrophy | | | -| MONDO:0861058 | infantile choroidocerebral calcification syndrome | GARD:1313 | MONDO:equivalentTo | Infantile choroidocerebral calcification syndrome | | | -| MONDO:0861059 | methylmalonic acidemia with homocystinuria, type cblx | GARD:13137 | MONDO:equivalentTo | Methylmalonic acidemia with homocystinuria, type cblX | | | -| MONDO:0861060 | acute flaccid myelitis | GARD:13142 | MONDO:equivalentTo | Acute flaccid myelitis | | | -| MONDO:0861061 | tibial muscular dystrophy | GARD:13154 | MONDO:equivalentTo | Tibial muscular dystrophy | | | -| MONDO:0861062 | early-onset lamellar cataract | GARD:13155 | MONDO:equivalentTo | Early-onset lamellar cataract | | | -| MONDO:0861063 | oligodendroglial tumor | GARD:13156 | MONDO:equivalentTo | Oligodendroglial tumor | | | -| MONDO:0861064 | hereditary papillary renal cell carcinoma | GARD:13157 | MONDO:equivalentTo | Hereditary papillary renal cell carcinoma | | | -| MONDO:0861065 | staphylococcal scalded skin syndrome | GARD:13158 | MONDO:equivalentTo | Staphylococcal scalded skin syndrome | | | -| MONDO:0861066 | rhizomelic chondrodysplasia punctata | GARD:13160 | MONDO:equivalentTo | Rhizomelic chondrodysplasia punctata | | | -| MONDO:0861067 | methylmalonic acidemia without homocystinuria | GARD:13163 | MONDO:equivalentTo | Methylmalonic acidemia without homocystinuria | | | -| MONDO:0861068 | familial isolated trichomegaly | GARD:13167 | MONDO:equivalentTo | Familial isolated trichomegaly | | | -| MONDO:0861069 | corticobasal syndrome | GARD:13168 | MONDO:equivalentTo | Corticobasal syndrome | | | -| MONDO:0861070 | chst3-related skeletal dysplasia | GARD:13169 | MONDO:equivalentTo | CHST3-related skeletal dysplasia | | | -| MONDO:0861071 | autosomal recessive brachyolmia | GARD:13171 | MONDO:equivalentTo | Autosomal recessive brachyolmia | | | -| MONDO:0861072 | polyneuropathy associated with igm monoclonal gammapathy with anti-mag | GARD:13173 | MONDO:equivalentTo | Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG | | | -| MONDO:0861073 | renal medullary carcinoma | GARD:13175 | MONDO:equivalentTo | Renal medullary carcinoma | | | -| MONDO:0861074 | s-adenosylhomocysteine hydrolase deficiency | GARD:13177 | MONDO:equivalentTo | S-adenosylhomocysteine hydrolase deficiency | | | -| MONDO:0861075 | xanthoma disseminatum | GARD:13186 | MONDO:equivalentTo | Xanthoma disseminatum | | | -| MONDO:0861076 | chromomycosis | GARD:1319 | MONDO:equivalentTo | Chromomycosis | | | -| MONDO:0861077 | infantile-onset periodic fever-panniculitis-dermatosis syndrome | GARD:13198 | MONDO:equivalentTo | Infantile-onset periodic fever-panniculitis-dermatosis syndrome | | | -| MONDO:0861078 | cystic leukoencephalopathy without megalencephaly | GARD:13199 | MONDO:equivalentTo | Cystic leukoencephalopathy without megalencephaly | | | -| MONDO:0861079 | primary cutaneous amyloidosis | GARD:132 | MONDO:equivalentTo | Primary cutaneous amyloidosis | | | -| MONDO:0861080 | ring chromosome 1 syndrome | GARD:1320 | MONDO:equivalentTo | Ring chromosome 1 syndrome | | | -| MONDO:0861081 | mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy | GARD:13200 | MONDO:equivalentTo | Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy | | | -| MONDO:0861082 | hyperammonemic encephalopathy due to carbonic anhydrase va deficiency | GARD:13201 | MONDO:equivalentTo | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | | | -| MONDO:0861083 | neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency | GARD:13202 | MONDO:equivalentTo | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | | | -| MONDO:0861084 | 2q32q33 microdeletion syndrome | GARD:13206 | MONDO:equivalentTo | 2q32q33 microdeletion syndrome | | | -| MONDO:0861085 | pituitary stalk interruption syndrome | GARD:13209 | MONDO:equivalentTo | Pituitary stalk interruption syndrome | | | -| MONDO:0861086 | renal cell carcinoma | GARD:13215 | MONDO:equivalentTo | Renal cell carcinoma | | | -| MONDO:0861087 | hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome | GARD:13218 | MONDO:equivalentTo | Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome | | | -| MONDO:0861088 | bap1-related tumor predisposition syndrome | GARD:13219 | MONDO:equivalentTo | BAP1-related tumor predisposition syndrome | | | -| MONDO:0861089 | ring chromosome 10 syndrome | GARD:1322 | MONDO:equivalentTo | Ring chromosome 10 syndrome | | | -| MONDO:0861090 | severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome | GARD:13221 | MONDO:equivalentTo | Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome | | | -| MONDO:0861091 | bicd2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | GARD:13222 | MONDO:equivalentTo | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | | | -| MONDO:0861092 | distal monosomy 10p | GARD:1323 | MONDO:equivalentTo | Distal monosomy 10p | | | -| MONDO:0861093 | familial acute necrotizing encephalopathy | GARD:13232 | MONDO:equivalentTo | Familial acute necrotizing encephalopathy | | | -| MONDO:0861094 | marginal zone lymphoma | GARD:13237 | MONDO:equivalentTo | Marginal zone lymphoma | | | -| MONDO:0861095 | x-linked intellectual disability, cabezas type | GARD:13244 | MONDO:equivalentTo | X-linked intellectual disability, Cabezas type | | | -| MONDO:0861096 | ring chromosome 12 syndrome | GARD:1325 | MONDO:equivalentTo | Ring chromosome 12 syndrome | | | -| MONDO:0861097 | igg4-related pachymeningitis | GARD:13256 | MONDO:equivalentTo | IgG4-related pachymeningitis | | | -| MONDO:0861098 | bainbridge-ropers syndrome | GARD:13259 | MONDO:equivalentTo | Bainbridge-Ropers syndrome | | | -| MONDO:0861099 | infantile cerebellar-retinal degeneration | GARD:13264 | MONDO:equivalentTo | Infantile cerebellar-retinal degeneration | | | -| MONDO:0861100 | mosaic trisomy 14 | GARD:1327 | MONDO:equivalentTo | Mosaic trisomy 14 | | | -| MONDO:0861101 | phosphoserine aminotransferase deficiency, infantile/juvenile form | GARD:13273 | MONDO:equivalentTo | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | -| MONDO:0861102 | ring chromosome 15 syndrome | GARD:1328 | MONDO:equivalentTo | Ring chromosome 15 syndrome | | | -| MONDO:0861103 | bleeding diathesis due to glycoprotein vi deficiency | GARD:13293 | MONDO:equivalentTo | Bleeding diathesis due to glycoprotein VI deficiency | | | -| MONDO:0861104 | familial focal epilepsy with variable foci | GARD:13295 | MONDO:equivalentTo | Familial focal epilepsy with variable foci | | | -| MONDO:0861105 | 17q12 microduplication syndrome | GARD:13296 | MONDO:equivalentTo | 17q12 microduplication syndrome | | | -| MONDO:0861106 | 17q12 microdeletion syndrome | GARD:13297 | MONDO:equivalentTo | 17q12 microdeletion syndrome | | | -| MONDO:0861107 | mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | GARD:13298 | MONDO:equivalentTo | Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | | | -| MONDO:0861108 | magel2-related prader-willi-like syndrome | GARD:13316 | MONDO:equivalentTo | MAGEL2-related Prader-Willi-like syndrome | | | -| MONDO:0861109 | fatty acyl-coa reductase 1 deficiency | GARD:13319 | MONDO:equivalentTo | Fatty acyl-CoA reductase 1 deficiency | | | -| MONDO:0861110 | rhizomelic chondrodysplasia punctata type 5 | GARD:13320 | MONDO:equivalentTo | Rhizomelic chondrodysplasia punctata type 5 | | | -| MONDO:0861111 | ring chromosome 19 syndrome | GARD:1333 | MONDO:equivalentTo | Ring chromosome 19 syndrome | | | -| MONDO:0861112 | familial reactive perforating collagenosis | GARD:13331 | MONDO:equivalentTo | Familial reactive perforating collagenosis | | | -| MONDO:0861113 | idiopathic interstitial pneumonia | GARD:13337 | MONDO:equivalentTo | Idiopathic interstitial pneumonia | | | -| MONDO:0861114 | benta disease | GARD:13339 | MONDO:equivalentTo | BENTA disease | | | -| MONDO:0861115 | ring chromosome 20 syndrome | GARD:1334 | MONDO:equivalentTo | Ring chromosome 20 syndrome | | | -| MONDO:0861116 | postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | GARD:13349 | MONDO:equivalentTo | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | | | -| MONDO:0861117 | morning glory disc anomaly | GARD:13354 | MONDO:equivalentTo | Morning glory disc anomaly | | | -| MONDO:0861118 | ring chromosome 22 syndrome | GARD:1336 | MONDO:equivalentTo | Ring chromosome 22 syndrome | | | -| MONDO:0861119 | magic syndrome | GARD:13371 | MONDO:equivalentTo | MAGIC syndrome | | | -| MONDO:0861120 | congenital generalized lipodystrophy | GARD:13388 | MONDO:equivalentTo | Congenital generalized lipodystrophy | | | -| MONDO:0861121 | ring chromosome 4 syndrome | GARD:1339 | MONDO:equivalentTo | Ring chromosome 4 syndrome | | | -| MONDO:0861122 | 12q14 microdeletion syndrome | GARD:13390 | MONDO:equivalentTo | 12q14 microdeletion syndrome | | | -| MONDO:0861123 | 2p15p16.1 microdeletion syndrome | GARD:13391 | MONDO:equivalentTo | 2p15p16.1 microdeletion syndrome | | | -| MONDO:0861124 | spondyloepimetaphyseal dysplasia congenita, strudwick type | GARD:134 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia congenita, Strudwick type | | | -| MONDO:0861125 | ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | GARD:13409 | MONDO:equivalentTo | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | | | -| MONDO:0861126 | neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | GARD:13418 | MONDO:equivalentTo | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | -| MONDO:0861127 | recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | GARD:13423 | MONDO:equivalentTo | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | | | -| MONDO:0861128 | spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | GARD:13425 | MONDO:equivalentTo | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | -| MONDO:0861129 | temple syndrome | GARD:13431 | MONDO:equivalentTo | Temple syndrome | | | -| MONDO:0861130 | plasmacytoma | GARD:13446 | MONDO:equivalentTo | Plasmacytoma | | | -| MONDO:0861131 | pens syndrome | GARD:13447 | MONDO:equivalentTo | PENS syndrome | | | -| MONDO:0861132 | ring chromosome 7 syndrome | GARD:1345 | MONDO:equivalentTo | Ring chromosome 7 syndrome | | | -| MONDO:0861133 | kaposiform lymphangiomatosis | GARD:13451 | MONDO:equivalentTo | Kaposiform lymphangiomatosis | | | -| MONDO:0861134 | ren-related autosomal dominant tubulointerstitial kidney disease | GARD:13461 | MONDO:equivalentTo | REN-related autosomal dominant tubulointerstitial kidney disease | | | -| MONDO:0861135 | ring chromosome 8 syndrome | GARD:1347 | MONDO:equivalentTo | Ring chromosome 8 syndrome | | | -| MONDO:0861136 | fth1-related iron overload | GARD:13472 | MONDO:equivalentTo | FTH1-related iron overload | | | -| MONDO:0861137 | intellectual disability-epilepsy-extrapyramidal syndrome | GARD:13474 | MONDO:equivalentTo | Intellectual disability-epilepsy-extrapyramidal syndrome | | | -| MONDO:0861138 | ring chromosome 9 syndrome | GARD:1348 | MONDO:equivalentTo | Ring chromosome 9 syndrome | | | -| MONDO:0861139 | mepan syndrome | GARD:13488 | MONDO:equivalentTo | MEPAN syndrome | | | -| MONDO:0861140 | brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | GARD:13489 | MONDO:equivalentTo | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | -| MONDO:0861141 | dync1h1-related autosomal dominant childhood-onset proximal spinal muscular atrophy | GARD:13519 | MONDO:equivalentTo | DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy | | | -| MONDO:0861142 | dyrk1a-related intellectual disability syndrome | GARD:13527 | MONDO:equivalentTo | DYRK1A-related intellectual disability syndrome | | | -| MONDO:0861143 | cinca syndrome | GARD:1356 | MONDO:equivalentTo | CINCA syndrome | | | -| MONDO:0861144 | combined immunodeficiency due to lrba deficiency | GARD:13565 | MONDO:equivalentTo | Combined immunodeficiency due to LRBA deficiency | | | -| MONDO:0861145 | hereditary sensory and autonomic neuropathy due to tecpr2 mutation | GARD:13568 | MONDO:equivalentTo | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | | | -| MONDO:0861146 | childhood encephalopathy due to thiamine pyrophosphokinase deficiency | GARD:13571 | MONDO:equivalentTo | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | | | -| MONDO:0861147 | intellectual disability-myopathy-short stature-endocrine defect syndrome | GARD:1358 | MONDO:equivalentTo | Intellectual disability-myopathy-short stature-endocrine defect syndrome | | | -| MONDO:0861148 | combined immunodeficiency with granulomatosis | GARD:13587 | MONDO:equivalentTo | Combined immunodeficiency with granulomatosis | | | -| MONDO:0861149 | pontiac fever | GARD:13588 | MONDO:equivalentTo | Pontiac fever | | | -| MONDO:0861150 | chylous ascites | GARD:1359 | MONDO:equivalentTo | Chylous ascites | | | -| MONDO:0861151 | postural orthostatic tachycardia syndrome due to net deficiency | GARD:13591 | MONDO:equivalentTo | Postural orthostatic tachycardia syndrome due to NET deficiency | | | -| MONDO:0861152 | severe congenital neutropenia | GARD:13592 | MONDO:equivalentTo | Severe congenital neutropenia | | | -| MONDO:0861153 | rosette-forming glioneuronal tumor | GARD:13593 | MONDO:equivalentTo | Rosette-forming glioneuronal tumor | | | -| MONDO:0861154 | brain dopamine-serotonin vesicular transport disease | GARD:13594 | MONDO:equivalentTo | Brain dopamine-serotonin vesicular transport disease | | | -| MONDO:0861155 | subcorneal pustular dermatosis | GARD:13606 | MONDO:equivalentTo | Subcorneal pustular dermatosis | | | -| MONDO:0861156 | pneumonia caused by pseudomonas aeruginosa infection | GARD:13613 | MONDO:equivalentTo | Pneumonia caused by Pseudomonas aeruginosa infection | | | -| MONDO:0861157 | cad-cdg | GARD:13621 | MONDO:equivalentTo | CAD-CDG | | | -| MONDO:0861158 | drug reaction with eosinophilia and systemic symptoms | GARD:13629 | MONDO:equivalentTo | Drug reaction with eosinophilia and systemic symptoms | | | -| MONDO:0861159 | macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | GARD:13636 | MONDO:equivalentTo | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | | | -| MONDO:0861160 | x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | GARD:13638 | MONDO:equivalentTo | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | | | -| MONDO:0861161 | classic galactosemia | GARD:13639 | MONDO:equivalentTo | Classic galactosemia | | | -| MONDO:0861162 | familial cerebral cavernous malformation | GARD:13641 | MONDO:equivalentTo | Familial cerebral cavernous malformation | | | -| MONDO:0861163 | mitochondrial dna depletion syndrome | GARD:13643 | MONDO:equivalentTo | Mitochondrial DNA depletion syndrome | | | -| MONDO:0861164 | mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency | GARD:13644 | MONDO:equivalentTo | Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | | | -| MONDO:0861165 | orofaciodigital syndrome type 14 | GARD:13655 | MONDO:equivalentTo | Orofaciodigital syndrome type 14 | | | -| MONDO:0861166 | childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | GARD:13658 | MONDO:equivalentTo | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | | | -| MONDO:0861167 | classic multiminicore myopathy | GARD:13661 | MONDO:equivalentTo | Classic multiminicore myopathy | | | -| MONDO:0861168 | familial sick sinus syndrome | GARD:13663 | MONDO:equivalentTo | Familial sick sinus syndrome | | | -| MONDO:0861169 | tibial aplasia-ectrodactyly syndrome | GARD:1369 | MONDO:equivalentTo | Tibial aplasia-ectrodactyly syndrome | | | -| MONDO:0861170 | primary cutaneous follicle center lymphoma | GARD:13701 | MONDO:equivalentTo | Primary cutaneous follicle center lymphoma | | | -| MONDO:0861171 | warsaw breakage syndrome | GARD:13708 | MONDO:equivalentTo | Warsaw breakage syndrome | | | -| MONDO:0861172 | combined immunodeficiency due to partial rag1 deficiency | GARD:13712 | MONDO:equivalentTo | Combined immunodeficiency due to partial RAG1 deficiency | | | -| MONDO:0861173 | t-cell prolymphocytic leukemia | GARD:13731 | MONDO:equivalentTo | T-cell prolymphocytic leukemia | | | -| MONDO:0861174 | white-sutton syndrome | GARD:13774 | MONDO:equivalentTo | White-Sutton syndrome | | | -| MONDO:0861175 | aica-ribosiduria | GARD:13781 | MONDO:equivalentTo | AICA-ribosiduria | | | -| MONDO:0861176 | luscan-lumish syndrome | GARD:13789 | MONDO:equivalentTo | Luscan-Lumish syndrome | | | -| MONDO:0861177 | chd3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome | GARD:13806 | MONDO:equivalentTo | CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome | | | -| MONDO:0861178 | fundus albipunctatus | GARD:13809 | MONDO:equivalentTo | Fundus albipunctatus | | | -| MONDO:0861179 | malan overgrowth syndrome | GARD:13811 | MONDO:equivalentTo | Malan overgrowth syndrome | | | -| MONDO:0861180 | familial steroid-resistant nephrotic syndrome with adrenal insufficiency | GARD:13818 | MONDO:equivalentTo | Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | | | -| MONDO:0861181 | proteasome-associated autoinflammatory syndrome | GARD:13824 | MONDO:equivalentTo | Proteasome-associated autoinflammatory syndrome | | | -| MONDO:0861182 | familial atrial myxoma | GARD:139 | MONDO:equivalentTo | Familial atrial myxoma | | | -| MONDO:0861183 | cleft palate-lateral synechia syndrome | GARD:1391 | MONDO:equivalentTo | Cleft palate-lateral synechia syndrome | | | -| MONDO:0861184 | cleft palate-short stature-vertebral anomalies syndrome | GARD:1392 | MONDO:equivalentTo | Cleft palate-short stature-vertebral anomalies syndrome | | | -| MONDO:0861185 | cleft palate-stapes fixation-oligodontia syndrome | GARD:1393 | MONDO:equivalentTo | Cleft palate-stapes fixation-oligodontia syndrome | | | -| MONDO:0861186 | x-linked cleft palate and ankyloglossia | GARD:1394 | MONDO:equivalentTo | X-linked cleft palate and ankyloglossia | | | -| MONDO:0861187 | atresia of small intestine | GARD:140 | MONDO:equivalentTo | Atresia of small intestine | | | -| MONDO:0861188 | thanatophoric dysplasia type 2 | GARD:1402 | MONDO:equivalentTo | Thanatophoric dysplasia type 2 | | | -| MONDO:0861189 | joubert syndrome with hepatic defect | GARD:1410 | MONDO:equivalentTo | Joubert syndrome with hepatic defect | | | -| MONDO:0861190 | cocaine embryofetopathy | GARD:1413 | MONDO:equivalentTo | Cocaine embryofetopathy | | | -| MONDO:0861191 | cockayne syndrome type 1 | GARD:1415 | MONDO:equivalentTo | Cockayne syndrome type 1 | | | -| MONDO:0861192 | cockayne syndrome type 3 | GARD:1417 | MONDO:equivalentTo | Cockayne syndrome type 3 | | | -| MONDO:0861193 | codas syndrome | GARD:1418 | MONDO:equivalentTo | CODAS syndrome | | | -| MONDO:0861194 | cockayne syndrome type 2 | GARD:1420 | MONDO:equivalentTo | Cockayne syndrome type 2 | | | -| MONDO:0861195 | cogan syndrome | GARD:1421 | MONDO:equivalentTo | Cogan syndrome | | | -| MONDO:0861196 | cole-carpenter syndrome | GARD:1425 | MONDO:equivalentTo | Cole-Carpenter syndrome | | | -| MONDO:0861197 | dislocation of the hip-dysmorphism syndrome | GARD:1428 | MONDO:equivalentTo | Dislocation of the hip-dysmorphism syndrome | | | -| MONDO:0861198 | hypertrichosis cubiti | GARD:143 | MONDO:equivalentTo | Hypertrichosis cubiti | | | -| MONDO:0861199 | coloboma of eye lens | GARD:1433 | MONDO:equivalentTo | Coloboma of eye lens | | | -| MONDO:0861200 | coloboma of iris | GARD:1434 | MONDO:equivalentTo | Coloboma of iris | | | -| MONDO:0861201 | coloboma of macula | GARD:1436 | MONDO:equivalentTo | Coloboma of macula | | | -| MONDO:0861202 | coloboma of macula-brachydactyly type b syndrome | GARD:1437 | MONDO:equivalentTo | Coloboma of macula-brachydactyly type B syndrome | | | -| MONDO:0861203 | coloboma of optic disc | GARD:1438 | MONDO:equivalentTo | Coloboma of optic disc | | | -| MONDO:0861204 | prominent glabella-microcephaly-hypogenitalism syndrome | GARD:144 | MONDO:equivalentTo | Prominent glabella-microcephaly-hypogenitalism syndrome | | | -| MONDO:0861205 | uveal coloboma-cleft lip and palate-intellectual disability | GARD:1440 | MONDO:equivalentTo | Uveal coloboma-cleft lip and palate-intellectual disability | | | -| MONDO:0861206 | anophthalmia/microphthalmia-esophageal atresia syndrome | GARD:1443 | MONDO:equivalentTo | Anophthalmia/microphthalmia-esophageal atresia syndrome | | | -| MONDO:0861207 | colonic atresia | GARD:1446 | MONDO:equivalentTo | Colonic atresia | | | -| MONDO:0861208 | complete atrioventricular septal defect | GARD:1454 | MONDO:equivalentTo | Complete atrioventricular septal defect | | | -| MONDO:0861209 | conductive deafness-malformed external ear syndrome | GARD:1460 | MONDO:equivalentTo | Conductive deafness-malformed external ear syndrome | | | -| MONDO:0861210 | jalili syndrome | GARD:1463 | MONDO:equivalentTo | Jalili syndrome | | | -| MONDO:0861211 | congenital lipoid adrenal hyperplasia due to star deficency | GARD:1465 | MONDO:equivalentTo | Congenital lipoid adrenal hyperplasia due to STAR deficency | | | -| MONDO:0861212 | congenital adrenal hyperplasia | GARD:1467 | MONDO:equivalentTo | Congenital adrenal hyperplasia | | | -| MONDO:0861213 | congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | GARD:1469 | MONDO:equivalentTo | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | -| MONDO:0861214 | autosomal dominant congenital benign spinal muscular atrophy | GARD:1474 | MONDO:equivalentTo | Autosomal dominant congenital benign spinal muscular atrophy | | | -| MONDO:0861215 | congenital respiratory-biliary fistula | GARD:1475 | MONDO:equivalentTo | Congenital respiratory-biliary fistula | | | -| MONDO:0861216 | fetal cytomegalovirus syndrome | GARD:1480 | MONDO:equivalentTo | Fetal cytomegalovirus syndrome | | | -| MONDO:0861217 | congenital diaphragmatic hernia | GARD:1481 | MONDO:equivalentTo | Congenital diaphragmatic hernia | | | -| MONDO:0861218 | congenital hypothyroidism | GARD:1487 | MONDO:equivalentTo | Congenital hypothyroidism | | | -| MONDO:0861219 | congenital ichthyosis-microcephalus-tetraplegia syndrome | GARD:1489 | MONDO:equivalentTo | Congenital ichthyosis-microcephalus-tetraplegia syndrome | | | -| MONDO:0861220 | congenital mesoblastic nephroma | GARD:1493 | MONDO:equivalentTo | Congenital mesoblastic nephroma | | | -| MONDO:0861221 | congenital mitral malformation | GARD:1495 | MONDO:equivalentTo | Congenital mitral malformation | | | -| MONDO:0861222 | congenital mitral stenosis | GARD:1496 | MONDO:equivalentTo | Congenital mitral stenosis | | | -| MONDO:0861223 | congenital nephrotic syndrome, finnish type | GARD:1500 | MONDO:equivalentTo | Congenital nephrotic syndrome, Finnish type | | | -| MONDO:0861224 | lig4 syndrome | GARD:15000 | MONDO:equivalentTo | LIG4 syndrome | | | -| MONDO:0861225 | vexas syndrome | GARD:15001 | MONDO:equivalentTo | VEXAS syndrome | | | -| MONDO:0861226 | complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome | GARD:15003 | MONDO:equivalentTo | Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome | | | -| MONDO:0861227 | fadd-related immunodeficiency | GARD:15004 | MONDO:equivalentTo | FADD-related immunodeficiency | | | -| MONDO:0861228 | hereditary breast and ovarian cancer syndrome | GARD:15010 | MONDO:equivalentTo | Hereditary breast and ovarian cancer syndrome | | | -| MONDO:0861229 | autosomal recessive malignant osteopetrosis | GARD:15012 | MONDO:equivalentTo | Autosomal recessive malignant osteopetrosis | | | -| MONDO:0861230 | craniometaphyseal dysplasia | GARD:15013 | MONDO:equivalentTo | Craniometaphyseal dysplasia | | | -| MONDO:0861231 | solitary fibrous tumor/hemangiopericytoma | GARD:15014 | MONDO:equivalentTo | Solitary fibrous tumor/hemangiopericytoma | | | -| MONDO:0861232 | achromatopsia | GARD:15015 | MONDO:equivalentTo | Achromatopsia | | | -| MONDO:0861233 | striate palmoplantar keratoderma | GARD:15016 | MONDO:equivalentTo | Striate palmoplantar keratoderma | | | -| MONDO:0861234 | trichorhinophalangeal syndrome type 1 and 3 | GARD:15017 | MONDO:equivalentTo | Trichorhinophalangeal syndrome type 1 and 3 | | | -| MONDO:0861235 | interatrial communication | GARD:15018 | MONDO:equivalentTo | Interatrial communication | | | -| MONDO:0861236 | fibronectin glomerulopathy | GARD:15019 | MONDO:equivalentTo | Fibronectin glomerulopathy | | | -| MONDO:0861237 | short bowel syndrome | GARD:1502 | MONDO:equivalentTo | Short bowel syndrome | | | -| MONDO:0861238 | non-acquired panhypopituitarism | GARD:15020 | MONDO:equivalentTo | Non-acquired panhypopituitarism | | | -| MONDO:0861239 | angioma serpiginosum | GARD:15021 | MONDO:equivalentTo | Angioma serpiginosum | | | -| MONDO:0861240 | postsynaptic congenital myasthenic syndromes | GARD:15022 | MONDO:equivalentTo | Postsynaptic congenital myasthenic syndromes | | | -| MONDO:0861241 | presynaptic congenital myasthenic syndromes | GARD:15023 | MONDO:equivalentTo | Presynaptic congenital myasthenic syndromes | | | -| MONDO:0861242 | multiple epiphyseal dysplasia due to collagen 9 anomaly | GARD:15024 | MONDO:equivalentTo | Multiple epiphyseal dysplasia due to collagen 9 anomaly | | | -| MONDO:0861243 | immunodeficiency due to a classical component pathway complement deficiency | GARD:15025 | MONDO:equivalentTo | Immunodeficiency due to a classical component pathway complement deficiency | | | -| MONDO:0861244 | hermansky-pudlak syndrome due to ap-3 deficiency | GARD:15026 | MONDO:equivalentTo | Hermansky-Pudlak syndrome due to AP-3 deficiency | | | -| MONDO:0861245 | pulmonary capillary hemangiomatosis | GARD:15027 | MONDO:equivalentTo | Pulmonary capillary hemangiomatosis | | | -| MONDO:0861246 | non-specific early-onset epileptic encephalopathy | GARD:15028 | MONDO:equivalentTo | Non-specific early-onset epileptic encephalopathy | | | -| MONDO:0861247 | femoral agenesis/hypoplasia | GARD:1503 | MONDO:equivalentTo | Femoral agenesis/hypoplasia | | | -| MONDO:0861248 | hereditary continuous muscle fiber activity | GARD:1512 | MONDO:equivalentTo | Hereditary continuous muscle fiber activity | | | -| MONDO:0861249 | continuous spikes and waves during sleep | GARD:1513 | MONDO:equivalentTo | Continuous spikes and waves during sleep | | | -| MONDO:0861250 | contractures-ectodermal dysplasia-cleft lip/palate syndrome | GARD:1515 | MONDO:equivalentTo | Contractures-ectodermal dysplasia-cleft lip/palate syndrome | | | -| MONDO:0861251 | restrictive dermopathy | GARD:1516 | MONDO:equivalentTo | Restrictive dermopathy | | | -| MONDO:0861252 | benign familial neonatal-infantile seizures | GARD:1518 | MONDO:equivalentTo | Benign familial neonatal-infantile seizures | | | -| MONDO:0861253 | benign familial neonatal epilepsy | GARD:1519 | MONDO:equivalentTo | Benign familial neonatal epilepsy | | | -| MONDO:0861254 | menkes disease | GARD:1521 | MONDO:equivalentTo | Menkes disease | | | -| MONDO:0861255 | familial benign copper deficiency | GARD:1522 | MONDO:equivalentTo | Familial benign copper deficiency | | | -| MONDO:0861256 | spinocerebellar degeneration-corneal dystrophy syndrome | GARD:1525 | MONDO:equivalentTo | Spinocerebellar degeneration-corneal dystrophy syndrome | | | -| MONDO:0861257 | progressive familial intrahepatic cholestasis | GARD:15255 | MONDO:equivalentTo | Progressive familial intrahepatic cholestasis | | | -| MONDO:0861258 | corneal dystrophy-perceptive deafness syndrome | GARD:1529 | MONDO:equivalentTo | Corneal dystrophy-perceptive deafness syndrome | | | -| MONDO:0861259 | corneodermatoosseous syndrome | GARD:1531 | MONDO:equivalentTo | Corneodermatoosseous syndrome | | | -| MONDO:0861260 | coronary arterial fistula | GARD:1533 | MONDO:equivalentTo | Coronary arterial fistula | | | -| MONDO:0861261 | coronary artery congenital malformation | GARD:1534 | MONDO:equivalentTo | Coronary artery congenital malformation | | | -| MONDO:0861262 | corpus callosum agenesis-neuronopathy syndrome | GARD:1537 | MONDO:equivalentTo | Corpus callosum agenesis-neuronopathy syndrome | | | -| MONDO:0861263 | congenitally corrected transposition of the great arteries | GARD:1544 | MONDO:equivalentTo | Congenitally corrected transposition of the great arteries | | | -| MONDO:0861264 | cortical blindness-intellectual disability-polydactyly syndrome | GARD:1548 | MONDO:equivalentTo | Cortical blindness-intellectual disability-polydactyly syndrome | | | -| MONDO:0861265 | laurin-sandrow syndrome | GARD:155 | MONDO:equivalentTo | Laurin-Sandrow syndrome | | | -| MONDO:0861266 | costello syndrome | GARD:1550 | MONDO:equivalentTo | Costello syndrome | | | -| MONDO:0861267 | congenitally short costocoracoid ligament | GARD:1551 | MONDO:equivalentTo | Congenitally short costocoracoid ligament | | | -| MONDO:0861268 | pelviscapular dysplasia | GARD:1555 | MONDO:equivalentTo | Pelviscapular dysplasia | | | -| MONDO:0861269 | coxoauricular syndrome | GARD:1558 | MONDO:equivalentTo | Coxoauricular syndrome | | | -| MONDO:0861270 | muscle-eye-brain disease | GARD:156 | MONDO:equivalentTo | Muscle-eye-brain disease | | | -| MONDO:0861271 | crandall syndrome | GARD:1561 | MONDO:equivalentTo | Crandall syndrome | | | -| MONDO:0861272 | cranio-osteoarthropathy | GARD:1564 | MONDO:equivalentTo | Cranio-osteoarthropathy | | | -| MONDO:0861273 | craniodiaphyseal dysplasia | GARD:1567 | MONDO:equivalentTo | Craniodiaphyseal dysplasia | | | -| MONDO:0861274 | hirschsprung disease-deafness-polydactyly syndrome | GARD:157 | MONDO:equivalentTo | Hirschsprung disease-deafness-polydactyly syndrome | | | -| MONDO:0861275 | craniofacial-deafness-hand syndrome | GARD:1571 | MONDO:equivalentTo | Craniofacial-deafness-hand syndrome | | | -| MONDO:0861276 | non-syndromic bilambdoid and sagittal craniosynostosis | GARD:1575 | MONDO:equivalentTo | Non-syndromic bilambdoid and sagittal craniosynostosis | | | -| MONDO:0861277 | craniofrontonasal dysplasia | GARD:1578 | MONDO:equivalentTo | Craniofrontonasal dysplasia | | | -| MONDO:0861278 | sarcosinemia | GARD:158 | MONDO:equivalentTo | Sarcosinemia | | | -| MONDO:0861279 | craniomicromelic syndrome | GARD:1583 | MONDO:equivalentTo | Craniomicromelic syndrome | | | -| MONDO:0861280 | scalp-ear-nipple syndrome | GARD:159 | MONDO:equivalentTo | Scalp-ear-nipple syndrome | | | -| MONDO:0861281 | ocular motor apraxia, cogan type | GARD:16 | MONDO:equivalentTo | Ocular motor apraxia, Cogan type | | | -| MONDO:0861282 | satoyoshi syndrome | GARD:160 | MONDO:equivalentTo | Satoyoshi syndrome | | | -| MONDO:0861283 | craniosynostosis, philadelphia type | GARD:1601 | MONDO:equivalentTo | Craniosynostosis, Philadelphia type | | | -| MONDO:0861284 | baller-gerold syndrome | GARD:1602 | MONDO:equivalentTo | Baller-Gerold syndrome | | | -| MONDO:0861285 | craniotelencephalic dysplasia | GARD:1605 | MONDO:equivalentTo | Craniotelencephalic dysplasia | | | -| MONDO:0861286 | congenital limbs-face contractures-hypotonia-developmental delay syndrome | GARD:16075 | MONDO:equivalentTo | Congenital limbs-face contractures-hypotonia-developmental delay syndrome | | | -| MONDO:0861287 | x-linked creatine transporter deficiency | GARD:1608 | MONDO:equivalentTo | X-linked creatine transporter deficiency | | | -| MONDO:0861288 | creeping myiasis | GARD:1609 | MONDO:equivalentTo | Creeping myiasis | | | -| MONDO:0861289 | crisponi syndrome | GARD:1611 | MONDO:equivalentTo | Crisponi syndrome | | | -| MONDO:0861290 | familial exudative vitreoretinopathy | GARD:1613 | MONDO:equivalentTo | Familial exudative vitreoretinopathy | | | -| MONDO:0861291 | cataract-nephropathy-encephalopathy syndrome | GARD:1614 | MONDO:equivalentTo | Cataract-nephropathy-encephalopathy syndrome | | | -| MONDO:0861292 | crossed polysyndactyly | GARD:1617 | MONDO:equivalentTo | Crossed polysyndactyly | | | -| MONDO:0861293 | cleft palate-large ears-small head syndrome | GARD:162 | MONDO:equivalentTo | Cleft palate-large ears-small head syndrome | | | -| MONDO:0861294 | cryptogenic organizing pneumonia | GARD:1620 | MONDO:equivalentTo | Cryptogenic organizing pneumonia | | | -| MONDO:0861295 | currarino syndrome | GARD:1626 | MONDO:equivalentTo | Currarino syndrome | | | -| MONDO:0861296 | cutaneous larva migrans | GARD:1629 | MONDO:equivalentTo | Cutaneous larva migrans | | | -| MONDO:0861297 | cutaneous photosensitivity-lethal colitis syndrome | GARD:1633 | MONDO:equivalentTo | Cutaneous photosensitivity-lethal colitis syndrome | | | -| MONDO:0861298 | autosomal recessive cutis laxa type 2a | GARD:1638 | MONDO:equivalentTo | Autosomal recessive cutis laxa type 2A | | | -| MONDO:0861299 | autosomal dominant cutis laxa | GARD:1639 | MONDO:equivalentTo | Autosomal dominant cutis laxa | | | -| MONDO:0861300 | autosomal recessive cutis laxa type 2b | GARD:1641 | MONDO:equivalentTo | Autosomal recessive cutis laxa type 2B | | | -| MONDO:0861301 | primary cutis verticis gyrata | GARD:1643 | MONDO:equivalentTo | Primary cutis verticis gyrata | | | -| MONDO:0861302 | thyrocerebrorenal syndrome | GARD:1646 | MONDO:equivalentTo | Thyrocerebrorenal syndrome | | | -| MONDO:0861303 | mitochondrial dna-related progressive external ophthalmoplegia | GARD:16479 | MONDO:equivalentTo | Mitochondrial DNA-related progressive external ophthalmoplegia | | | -| MONDO:0861304 | sorsby pseudoinflammatory fundus dystrophy | GARD:16480 | MONDO:equivalentTo | Sorsby pseudoinflammatory fundus dystrophy | | | -| MONDO:0861305 | methylmalonic aciduria due to transcobalamin receptor defect | GARD:16481 | MONDO:equivalentTo | Methylmalonic aciduria due to transcobalamin receptor defect | | | -| MONDO:0861306 | rieger anomaly | GARD:16482 | MONDO:equivalentTo | Rieger anomaly | | | -| MONDO:0861307 | anterior segment developmental anomaly without extraocular manifestations | GARD:16484 | MONDO:equivalentTo | Anterior segment developmental anomaly without extraocular manifestations | | | -| MONDO:0861308 | axenfeld anomaly | GARD:16485 | MONDO:equivalentTo | Axenfeld anomaly | | | -| MONDO:0861309 | autosomal dominant progressive external ophthalmoplegia | GARD:16486 | MONDO:equivalentTo | Autosomal dominant progressive external ophthalmoplegia | | | -| MONDO:0861310 | c3 glomerulonephritis | GARD:16487 | MONDO:equivalentTo | C3 glomerulonephritis | | | -| MONDO:0861311 | complement component 3 deficiency | GARD:16489 | MONDO:equivalentTo | Complement component 3 deficiency | | | -| MONDO:0861312 | primary early-onset glaucoma | GARD:16490 | MONDO:equivalentTo | Primary early-onset glaucoma | | | -| MONDO:0861313 | citrullinemia | GARD:16522 | MONDO:equivalentTo | Citrullinemia | | | -| MONDO:0861314 | glycogen storage disease due to glucose-6-phosphatase deficiency | GARD:16523 | MONDO:equivalentTo | Glycogen storage disease due to glucose-6-phosphatase deficiency | | | -| MONDO:0861315 | focal facial dermal dysplasia type i | GARD:16524 | MONDO:equivalentTo | Focal facial dermal dysplasia type I | | | -| MONDO:0861316 | crigler-najjar syndrome | GARD:16526 | MONDO:equivalentTo | Crigler-Najjar syndrome | | | -| MONDO:0861317 | ependymal tumor | GARD:16527 | MONDO:equivalentTo | Ependymal tumor | | | -| MONDO:0861318 | erythrokeratodermia variabilis | GARD:16528 | MONDO:equivalentTo | Erythrokeratodermia variabilis | | | -| MONDO:0861319 | classic hodgkin lymphoma | GARD:16529 | MONDO:equivalentTo | Classic Hodgkin lymphoma | | | -| MONDO:0861320 | primary hyperoxaluria | GARD:16530 | MONDO:equivalentTo | Primary hyperoxaluria | | | -| MONDO:0861321 | idiopathic/heritable pulmonary arterial hypertension | GARD:16531 | MONDO:equivalentTo | Idiopathic/heritable pulmonary arterial hypertension | | | -| MONDO:0861322 | familial hypoaldosteronism | GARD:16532 | MONDO:equivalentTo | Familial hypoaldosteronism | | | -| MONDO:0861323 | normosmic congenital hypogonadotropic hypogonadism | GARD:16533 | MONDO:equivalentTo | Normosmic congenital hypogonadotropic hypogonadism | | | -| MONDO:0861324 | non-syndromic anorectal malformation | GARD:16534 | MONDO:equivalentTo | Non-syndromic anorectal malformation | | | -| MONDO:0861325 | marfan syndrome | GARD:16535 | MONDO:equivalentTo | Marfan syndrome | | | -| MONDO:0861326 | multiminicore myopathy | GARD:16536 | MONDO:equivalentTo | Multiminicore myopathy | | | -| MONDO:0861327 | homocystinuria without methylmalonic aciduria | GARD:16537 | MONDO:equivalentTo | Homocystinuria without methylmalonic aciduria | | | -| MONDO:0861328 | short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinemia | GARD:16538 | MONDO:equivalentTo | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia | | | -| MONDO:0861329 | lcat deficiency | GARD:16539 | MONDO:equivalentTo | LCAT deficiency | | | -| MONDO:0861330 | familial aortic dissection | GARD:1654 | MONDO:equivalentTo | Familial aortic dissection | | | -| MONDO:0861331 | omphalocele | GARD:16540 | MONDO:equivalentTo | Omphalocele | | | -| MONDO:0861332 | hemolytic anemia due to glucophosphate isomerase deficiency | GARD:16541 | MONDO:equivalentTo | Hemolytic anemia due to glucophosphate isomerase deficiency | | | -| MONDO:0861333 | porokeratosis plantaris palmaris et disseminata | GARD:16542 | MONDO:equivalentTo | Porokeratosis plantaris palmaris et disseminata | | | -| MONDO:0861334 | severe hereditary thrombophilia due to congenital protein s deficiency | GARD:16543 | MONDO:equivalentTo | Severe hereditary thrombophilia due to congenital protein S deficiency | | | -| MONDO:0861335 | severe hereditary thrombophilia due to congenital protein c deficiency | GARD:16544 | MONDO:equivalentTo | Severe hereditary thrombophilia due to congenital protein C deficiency | | | -| MONDO:0861336 | pseudohypoaldosteronism type 1 | GARD:16545 | MONDO:equivalentTo | Pseudohypoaldosteronism type 1 | | | -| MONDO:0861337 | central precocious puberty | GARD:16546 | MONDO:equivalentTo | Central precocious puberty | | | -| MONDO:0861338 | familial long qt syndrome | GARD:16547 | MONDO:equivalentTo | Familial long QT syndrome | | | -| MONDO:0861339 | estrogen resistance syndrome | GARD:16548 | MONDO:equivalentTo | Estrogen resistance syndrome | | | -| MONDO:0861340 | encephalopathy due to sulfite oxidase deficiency | GARD:16549 | MONDO:equivalentTo | Encephalopathy due to sulfite oxidase deficiency | | | -| MONDO:0861341 | lown-ganong-levine syndrome | GARD:16550 | MONDO:equivalentTo | Lown-Ganong-Levine syndrome | | | -| MONDO:0861342 | acro-renal-ocular syndrome | GARD:16551 | MONDO:equivalentTo | Acro-renal-ocular syndrome | | | -| MONDO:0861343 | testicular regression syndrome | GARD:16552 | MONDO:equivalentTo | Testicular regression syndrome | | | -| MONDO:0861344 | alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome | GARD:16553 | MONDO:equivalentTo | Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome | | | -| MONDO:0861345 | autosomal recessive amelia | GARD:16554 | MONDO:equivalentTo | Autosomal recessive amelia | | | -| MONDO:0861346 | microlissencephaly | GARD:16555 | MONDO:equivalentTo | Microlissencephaly | | | -| MONDO:0861347 | sheldon-hall syndrome | GARD:16556 | MONDO:equivalentTo | Sheldon-Hall syndrome | | | -| MONDO:0861348 | congenital unilateral hypoplasia of depressor anguli oris | GARD:16557 | MONDO:equivalentTo | Congenital unilateral hypoplasia of depressor anguli oris | | | -| MONDO:0861349 | x-linked progressive cerebellar ataxia | GARD:16558 | MONDO:equivalentTo | X-linked progressive cerebellar ataxia | | | -| MONDO:0861350 | ataxia-tapetoretinal degeneration syndrome | GARD:16559 | MONDO:equivalentTo | Ataxia-tapetoretinal degeneration syndrome | | | -| MONDO:0861351 | spastic ataxia with congenital miosis | GARD:16560 | MONDO:equivalentTo | Spastic ataxia with congenital miosis | | | -| MONDO:0861352 | tmem70-related mitochondrial encephalo-cardio-myopathy | GARD:16561 | MONDO:equivalentTo | TMEM70-related mitochondrial encephalo-cardio-myopathy | | | -| MONDO:0861353 | brachytelephalangy-dysmorphism-kallmann syndrome | GARD:16562 | MONDO:equivalentTo | Brachytelephalangy-dysmorphism-Kallmann syndrome | | | -| MONDO:0861354 | hyperkeratosis-hyperpigmentation syndrome | GARD:16563 | MONDO:equivalentTo | Hyperkeratosis-hyperpigmentation syndrome | | | -| MONDO:0861355 | atrial standstill | GARD:16564 | MONDO:equivalentTo | Atrial standstill | | | -| MONDO:0861356 | chondrodysplasia-disorder of sex development syndrome | GARD:16565 | MONDO:equivalentTo | Chondrodysplasia-disorder of sex development syndrome | | | -| MONDO:0861357 | atrial septal defect-atrioventricular conduction defects syndrome | GARD:16566 | MONDO:equivalentTo | Atrial septal defect-atrioventricular conduction defects syndrome | | | -| MONDO:0861358 | cooper-jabs syndrome | GARD:16567 | MONDO:equivalentTo | Cooper-Jabs syndrome | | | -| MONDO:0861359 | autosomal recessive robinow syndrome | GARD:16568 | MONDO:equivalentTo | Autosomal recessive Robinow syndrome | | | -| MONDO:0861360 | fatal infantile cytochrome c oxidase deficiency | GARD:16569 | MONDO:equivalentTo | Fatal infantile cytochrome C oxidase deficiency | | | -| MONDO:0861361 | monosomy 13q14 | GARD:16570 | MONDO:equivalentTo | Monosomy 13q14 | | | -| MONDO:0861362 | distal monosomy 13q | GARD:16571 | MONDO:equivalentTo | Distal monosomy 13q | | | -| MONDO:0861363 | distal monosomy 15q | GARD:16572 | MONDO:equivalentTo | Distal monosomy 15q | | | -| MONDO:0861364 | 3q13 microdeletion syndrome | GARD:16573 | MONDO:equivalentTo | 3q13 microdeletion syndrome | | | -| MONDO:0861365 | partial chromosome y deletion | GARD:16574 | MONDO:equivalentTo | Partial chromosome Y deletion | | | -| MONDO:0861366 | dentin dysplasia | GARD:16575 | MONDO:equivalentTo | Dentin dysplasia | | | -| MONDO:0861367 | chronic diarrhea with villous atrophy | GARD:16576 | MONDO:equivalentTo | Chronic diarrhea with villous atrophy | | | -| MONDO:0861368 | arterial dissection-lentiginosis syndrome | GARD:16577 | MONDO:equivalentTo | Arterial dissection-lentiginosis syndrome | | | -| MONDO:0861369 | ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome | GARD:16578 | MONDO:equivalentTo | Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome | | | -| MONDO:0861370 | renal agenesis, bilateral | GARD:16579 | MONDO:equivalentTo | Renal agenesis, bilateral | | | -| MONDO:0861371 | diabetic embryopathy | GARD:16580 | MONDO:equivalentTo | Diabetic embryopathy | | | -| MONDO:0861372 | early myoclonic encephalopathy | GARD:16581 | MONDO:equivalentTo | Early myoclonic encephalopathy | | | -| MONDO:0861373 | hereditary gingival fibromatosis | GARD:16582 | MONDO:equivalentTo | Hereditary gingival fibromatosis | | | -| MONDO:0861374 | juvenile hyaline fibromatosis | GARD:16583 | MONDO:equivalentTo | Juvenile hyaline fibromatosis | | | -| MONDO:0861375 | x-linked intellectual disability-epilepsy syndrome | GARD:16584 | MONDO:equivalentTo | X-linked intellectual disability-epilepsy syndrome | | | -| MONDO:0861376 | 46,xx ovotesticular disorder of sex development | GARD:16585 | MONDO:equivalentTo | 46,XX ovotesticular disorder of sex development | | | -| MONDO:0861377 | nodular neuronal heterotopia | GARD:16586 | MONDO:equivalentTo | Nodular neuronal heterotopia | | | -| MONDO:0861378 | idiopathic hypercalciuria | GARD:16587 | MONDO:equivalentTo | Idiopathic hypercalciuria | | | -| MONDO:0861379 | primary hypergonadotropic hypogonadism-partial alopecia syndrome | GARD:16588 | MONDO:equivalentTo | Primary hypergonadotropic hypogonadism-partial alopecia syndrome | | | -| MONDO:0861380 | familial isolated hypoparathyroidism due to agenesis of parathyroid gland | GARD:16589 | MONDO:equivalentTo | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | | | -| MONDO:0861381 | hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | GARD:16590 | MONDO:equivalentTo | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | | | -| MONDO:0861382 | primary pulmonary hypoplasia | GARD:16591 | MONDO:equivalentTo | Primary pulmonary hypoplasia | | | -| MONDO:0861383 | congenital short bowel syndrome | GARD:16592 | MONDO:equivalentTo | Congenital short bowel syndrome | | | -| MONDO:0861384 | absence deformity of leg-cataract syndrome | GARD:16593 | MONDO:equivalentTo | Absence deformity of leg-cataract syndrome | | | -| MONDO:0861385 | kenny-caffey syndrome | GARD:16594 | MONDO:equivalentTo | Kenny-Caffey syndrome | | | -| MONDO:0861386 | larsen-like osseous dysplasia-short stature syndrome | GARD:16595 | MONDO:equivalentTo | Larsen-like osseous dysplasia-short stature syndrome | | | -| MONDO:0861387 | congenital laryngeal web | GARD:16596 | MONDO:equivalentTo | Congenital laryngeal web | | | -| MONDO:0861388 | laryngeal abductor paralysis-intellectual disability syndrome | GARD:16597 | MONDO:equivalentTo | Laryngeal abductor paralysis-intellectual disability syndrome | | | -| MONDO:0861389 | macrocephaly-spastic paraplegia-dysmorphism syndrome | GARD:16598 | MONDO:equivalentTo | Macrocephaly-spastic paraplegia-dysmorphism syndrome | | | -| MONDO:0861390 | congenital macroglossia | GARD:16599 | MONDO:equivalentTo | Congenital macroglossia | | | -| MONDO:0861391 | schizencephaly | GARD:166 | MONDO:equivalentTo | Schizencephaly | | | -| MONDO:0861392 | mucocutaneous venous malformations | GARD:16600 | MONDO:equivalentTo | Mucocutaneous venous malformations | | | -| MONDO:0861393 | megalencephaly | GARD:16601 | MONDO:equivalentTo | Megalencephaly | | | -| MONDO:0861394 | upper limb defect-eye and ear abnormalities syndrome | GARD:16602 | MONDO:equivalentTo | Upper limb defect-eye and ear abnormalities syndrome | | | -| MONDO:0861395 | autosomal recessive chorioretinopathy-microcephaly syndrome | GARD:16603 | MONDO:equivalentTo | Autosomal recessive chorioretinopathy-microcephaly syndrome | | | -| MONDO:0861396 | hypomyelination neuropathy-arthrogryposis syndrome | GARD:16604 | MONDO:equivalentTo | Hypomyelination neuropathy-arthrogryposis syndrome | | | -| MONDO:0861397 | adult idiopathic neutropenia | GARD:16605 | MONDO:equivalentTo | Adult idiopathic neutropenia | | | -| MONDO:0861398 | oculo-palato-cerebral syndrome | GARD:16606 | MONDO:equivalentTo | Oculo-palato-cerebral syndrome | | | -| MONDO:0861399 | oculotrichodysplasia | GARD:16607 | MONDO:equivalentTo | Oculotrichodysplasia | | | -| MONDO:0861400 | omodysplasia | GARD:16608 | MONDO:equivalentTo | Omodysplasia | | | -| MONDO:0861401 | familial recurrent peripheral facial palsy | GARD:16609 | MONDO:equivalentTo | Familial recurrent peripheral facial palsy | | | -| MONDO:0861402 | young-onset parkinson disease | GARD:16610 | MONDO:equivalentTo | Young-onset Parkinson disease | | | -| MONDO:0861403 | pelvis-shoulder dysplasia | GARD:16611 | MONDO:equivalentTo | Pelvis-shoulder dysplasia | | | -| MONDO:0861404 | short stature-valvular heart disease-characteristic facies syndrome | GARD:16612 | MONDO:equivalentTo | Short stature-valvular heart disease-characteristic facies syndrome | | | -| MONDO:0861405 | phosphoenolpyruvate carboxykinase deficiency | GARD:16613 | MONDO:equivalentTo | Phosphoenolpyruvate carboxykinase deficiency | | | -| MONDO:0861406 | postaxial polydactyly-dental and vertebral anomalies syndrome | GARD:16614 | MONDO:equivalentTo | Postaxial polydactyly-dental and vertebral anomalies syndrome | | | -| MONDO:0861407 | absent thumb-short stature-immunodeficiency syndrome | GARD:16615 | MONDO:equivalentTo | Absent thumb-short stature-immunodeficiency syndrome | | | -| MONDO:0861408 | leukocyte adhesion deficiency | GARD:16616 | MONDO:equivalentTo | Leukocyte adhesion deficiency | | | -| MONDO:0861409 | 46,xx disorder of sex development-skeletal anomalies syndrome | GARD:16617 | MONDO:equivalentTo | 46,XX disorder of sex development-skeletal anomalies syndrome | | | -| MONDO:0861410 | blepharophimosis-intellectual disability syndrome, sbbys type | GARD:16618 | MONDO:equivalentTo | Blepharophimosis-intellectual disability syndrome, SBBYS type | | | -| MONDO:0861411 | fixed subaortic stenosis | GARD:16619 | MONDO:equivalentTo | Fixed subaortic stenosis | | | -| MONDO:0861412 | autosomal dominant robinow syndrome | GARD:16620 | MONDO:equivalentTo | Autosomal dominant Robinow syndrome | | | -| MONDO:0861413 | alpha-n-acetylgalactosaminidase deficiency | GARD:16621 | MONDO:equivalentTo | Alpha-N-acetylgalactosaminidase deficiency | | | -| MONDO:0861414 | x-linked spasticity-intellectual disability-epilepsy syndrome | GARD:16622 | MONDO:equivalentTo | X-linked spasticity-intellectual disability-epilepsy syndrome | | | -| MONDO:0861415 | congenital pulmonary valvar stenosis | GARD:16623 | MONDO:equivalentTo | Congenital pulmonary valvar stenosis | | | -| MONDO:0861416 | deafness-onychodystrophy syndrome | GARD:16624 | MONDO:equivalentTo | Deafness-onychodystrophy syndrome | | | -| MONDO:0861417 | idiopathic hypereosinophilic syndrome | GARD:16625 | MONDO:equivalentTo | Idiopathic hypereosinophilic syndrome | | | -| MONDO:0861418 | non-syndromic metopic craniosynostosis | GARD:16626 | MONDO:equivalentTo | Non-syndromic metopic craniosynostosis | | | -| MONDO:0861419 | truncus arteriosus | GARD:16627 | MONDO:equivalentTo | Truncus arteriosus | | | -| MONDO:0861420 | hereditary xanthinuria | GARD:16628 | MONDO:equivalentTo | Hereditary xanthinuria | | | -| MONDO:0861421 | hereditary central diabetes insipidus | GARD:16629 | MONDO:equivalentTo | Hereditary central diabetes insipidus | | | -| MONDO:0861422 | neuroectodermal melanolysosomal disease | GARD:16630 | MONDO:equivalentTo | Neuroectodermal melanolysosomal disease | | | -| MONDO:0861423 | glutamate-cysteine ligase deficiency | GARD:16631 | MONDO:equivalentTo | Glutamate-cysteine ligase deficiency | | | -| MONDO:0861424 | t-b+ severe combined immunodeficiency due to jak3 deficiency | GARD:16632 | MONDO:equivalentTo | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | -| MONDO:0861425 | non-syndromic sagittal craniosynostosis | GARD:16633 | MONDO:equivalentTo | Non-syndromic sagittal craniosynostosis | | | -| MONDO:0861426 | non-syndromic bicoronal craniosynostosis | GARD:16634 | MONDO:equivalentTo | Non-syndromic bicoronal craniosynostosis | | | -| MONDO:0861427 | hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | GARD:16635 | MONDO:equivalentTo | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | | | -| MONDO:0861428 | lysosomal acid phosphatase deficiency | GARD:16636 | MONDO:equivalentTo | Lysosomal acid phosphatase deficiency | | | -| MONDO:0861429 | nanophthalmos | GARD:16637 | MONDO:equivalentTo | Nanophthalmos | | | -| MONDO:0861430 | aldh18a1-related de barsy syndrome | GARD:16638 | MONDO:equivalentTo | ALDH18A1-related De Barsy syndrome | | | -| MONDO:0861431 | combined deficiency of factor v and factor viii | GARD:16639 | MONDO:equivalentTo | Combined deficiency of factor V and factor VIII | | | -| MONDO:0861432 | distal monosomy 1q | GARD:16640 | MONDO:equivalentTo | Distal monosomy 1q | | | -| MONDO:0861433 | episodic ataxia type 1 | GARD:16641 | MONDO:equivalentTo | Episodic ataxia type 1 | | | -| MONDO:0861434 | graft versus host disease | GARD:16642 | MONDO:equivalentTo | Graft versus host disease | | | -| MONDO:0861435 | hereditary myopathy with lactic acidosis due to iscu deficiency | GARD:16643 | MONDO:equivalentTo | Hereditary myopathy with lactic acidosis due to ISCU deficiency | | | -| MONDO:0861436 | proximal renal tubular acidosis | GARD:16644 | MONDO:equivalentTo | Proximal renal tubular acidosis | | | -| MONDO:0861437 | congenital cataracts-facial dysmorphism-neuropathy syndrome | GARD:16645 | MONDO:equivalentTo | Congenital cataracts-facial dysmorphism-neuropathy syndrome | | | -| MONDO:0861438 | lipodystrophy-intellectual disability-deafness syndrome | GARD:16646 | MONDO:equivalentTo | Lipodystrophy-intellectual disability-deafness syndrome | | | -| MONDO:0861439 | craniolenticulosutural dysplasia | GARD:16647 | MONDO:equivalentTo | Craniolenticulosutural dysplasia | | | -| MONDO:0861440 | branchiogenic deafness syndrome | GARD:16648 | MONDO:equivalentTo | Branchiogenic deafness syndrome | | | -| MONDO:0861441 | schöpf-schulz-passarge syndrome | GARD:16649 | MONDO:equivalentTo | Schöpf-Schulz-Passarge syndrome | | | -| MONDO:0861442 | familial short qt syndrome | GARD:16650 | MONDO:equivalentTo | Familial short QT syndrome | | | -| MONDO:0861443 | torsade-de-pointes syndrome with short coupling interval | GARD:16651 | MONDO:equivalentTo | Torsade-de-pointes syndrome with short coupling interval | | | -| MONDO:0861444 | braddock syndrome | GARD:16652 | MONDO:equivalentTo | Braddock syndrome | | | -| MONDO:0861445 | craniosynostosis-intracranial calcifications syndrome | GARD:16653 | MONDO:equivalentTo | Craniosynostosis-intracranial calcifications syndrome | | | -| MONDO:0861446 | ulnar/fibula ray defect-brachydactyly syndrome | GARD:16654 | MONDO:equivalentTo | Ulnar/fibula ray defect-brachydactyly syndrome | | | -| MONDO:0861447 | retinitis punctata albescens | GARD:16655 | MONDO:equivalentTo | Retinitis punctata albescens | | | -| MONDO:0861448 | paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | GARD:16656 | MONDO:equivalentTo | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | | | -| MONDO:0861449 | congenital cornea plana | GARD:16657 | MONDO:equivalentTo | Congenital cornea plana | | | -| MONDO:0861450 | arthrogryposis-anterior horn cell disease syndrome | GARD:16658 | MONDO:equivalentTo | Arthrogryposis-anterior horn cell disease syndrome | | | -| MONDO:0861451 | thrombotic thrombocytopenic purpura | GARD:16659 | MONDO:equivalentTo | Thrombotic thrombocytopenic purpura | | | -| MONDO:0861452 | hydrocephaly-tall stature-joint laxity syndrome | GARD:1666 | MONDO:equivalentTo | Hydrocephaly-tall stature-joint laxity syndrome | | | -| MONDO:0861453 | adamantinoma | GARD:16660 | MONDO:equivalentTo | Adamantinoma | | | -| MONDO:0861454 | schilder disease | GARD:16661 | MONDO:equivalentTo | Schilder disease | | | -| MONDO:0861455 | enlarged parietal foramina | GARD:16662 | MONDO:equivalentTo | Enlarged parietal foramina | | | -| MONDO:0861456 | pulmonary nodular lymphoid hyperplasia | GARD:16663 | MONDO:equivalentTo | Pulmonary nodular lymphoid hyperplasia | | | -| MONDO:0861457 | idiopathic bronchiectasis | GARD:16664 | MONDO:equivalentTo | Idiopathic bronchiectasis | | | -| MONDO:0861458 | antley-bixler syndrome with genital anomaly and disorder of steroidogenesis | GARD:16665 | MONDO:equivalentTo | Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis | | | -| MONDO:0861459 | distal myopathy with posterior leg and anterior hand involvement | GARD:16666 | MONDO:equivalentTo | Distal myopathy with posterior leg and anterior hand involvement | | | -| MONDO:0861460 | childhood absence epilepsy | GARD:16667 | MONDO:equivalentTo | Childhood absence epilepsy | | | -| MONDO:0861461 | ovarian hyperstimulation syndrome | GARD:16668 | MONDO:equivalentTo | Ovarian hyperstimulation syndrome | | | -| MONDO:0861462 | beta-ureidopropionase deficiency | GARD:16669 | MONDO:equivalentTo | Beta-ureidopropionase deficiency | | | -| MONDO:0861463 | permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | GARD:16670 | MONDO:equivalentTo | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | | | -| MONDO:0861464 | isolated focal cortical dysplasia | GARD:16671 | MONDO:equivalentTo | Isolated focal cortical dysplasia | | | -| MONDO:0861465 | arthrogryposis-severe scoliosis syndrome | GARD:16672 | MONDO:equivalentTo | Arthrogryposis-severe scoliosis syndrome | | | -| MONDO:0861466 | congenital pseudoarthrosis of the clavicle | GARD:16673 | MONDO:equivalentTo | Congenital pseudoarthrosis of the clavicle | | | -| MONDO:0861467 | diaphanospondylodysostosis | GARD:16674 | MONDO:equivalentTo | Diaphanospondylodysostosis | | | -| MONDO:0861468 | hyaluronidase deficiency | GARD:16675 | MONDO:equivalentTo | Hyaluronidase deficiency | | | -| MONDO:0861469 | thrombocytopenia with congenital dyserythropoietic anemia | GARD:16676 | MONDO:equivalentTo | Thrombocytopenia with congenital dyserythropoietic anemia | | | -| MONDO:0861470 | x-linked intellectual disability with isolated growth hormone deficiency | GARD:16677 | MONDO:equivalentTo | X-linked intellectual disability with isolated growth hormone deficiency | | | -| MONDO:0861471 | idiopathic steroid-sensitive nephrotic syndrome | GARD:16678 | MONDO:equivalentTo | Idiopathic steroid-sensitive nephrotic syndrome | | | -| MONDO:0861472 | odonto-tricho-ungual-digito-palmar syndrome | GARD:16679 | MONDO:equivalentTo | Odonto-tricho-ungual-digito-palmar syndrome | | | -| MONDO:0861473 | pure hair and nail ectodermal dysplasia | GARD:16680 | MONDO:equivalentTo | Pure hair and nail ectodermal dysplasia | | | -| MONDO:0861474 | anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome | GARD:16681 | MONDO:equivalentTo | Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome | | | -| MONDO:0861475 | anonychia with flexural pigmentation | GARD:16682 | MONDO:equivalentTo | Anonychia with flexural pigmentation | | | -| MONDO:0861476 | low phospholipid-associated cholelithiasis | GARD:16683 | MONDO:equivalentTo | Low phospholipid-associated cholelithiasis | | | -| MONDO:0861477 | bosley-salih-alorainy syndrome | GARD:16684 | MONDO:equivalentTo | Bosley-Salih-Alorainy syndrome | | | -| MONDO:0861478 | leigh syndrome with cardiomyopathy | GARD:16685 | MONDO:equivalentTo | Leigh syndrome with cardiomyopathy | | | -| MONDO:0861479 | split hand-split foot-deafness syndrome | GARD:16686 | MONDO:equivalentTo | Split hand-split foot-deafness syndrome | | | -| MONDO:0861480 | radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | GARD:16687 | MONDO:equivalentTo | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | | | -| MONDO:0861481 | familial thrombocytosis | GARD:16688 | MONDO:equivalentTo | Familial thrombocytosis | | | -| MONDO:0861482 | obesity due to prohormone convertase i deficiency | GARD:16689 | MONDO:equivalentTo | Obesity due to prohormone convertase I deficiency | | | -| MONDO:0861483 | dandy-walker malformation-postaxial polydactyly syndrome | GARD:1669 | MONDO:equivalentTo | Dandy-Walker malformation-postaxial polydactyly syndrome | | | -| MONDO:0861484 | obesity due to melanocortin 4 receptor deficiency | GARD:16690 | MONDO:equivalentTo | Obesity due to melanocortin 4 receptor deficiency | | | -| MONDO:0861485 | bleeding diathesis due to a collagen receptor defect | GARD:16691 | MONDO:equivalentTo | Bleeding diathesis due to a collagen receptor defect | | | -| MONDO:0861486 | familial isolated restrictive cardiomyopathy | GARD:16692 | MONDO:equivalentTo | Familial isolated restrictive cardiomyopathy | | | -| MONDO:0861487 | retinal arterial tortuosity | GARD:16693 | MONDO:equivalentTo | Retinal arterial tortuosity | | | -| MONDO:0861488 | cystoid macular dystrophy | GARD:16694 | MONDO:equivalentTo | Cystoid macular dystrophy | | | -| MONDO:0861489 | primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | GARD:16695 | MONDO:equivalentTo | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | | | -| MONDO:0861490 | juvenile polyposis of infancy | GARD:16696 | MONDO:equivalentTo | Juvenile polyposis of infancy | | | -| MONDO:0861491 | grange syndrome | GARD:16697 | MONDO:equivalentTo | Grange syndrome | | | -| MONDO:0861492 | eiken syndrome | GARD:16698 | MONDO:equivalentTo | Eiken syndrome | | | -| MONDO:0861493 | neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome | GARD:16699 | MONDO:equivalentTo | Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome | | | -| MONDO:0861494 | lymphoid interstitial pneumonia | GARD:16700 | MONDO:equivalentTo | Lymphoid interstitial pneumonia | | | -| MONDO:0861495 | dend syndrome | GARD:16701 | MONDO:equivalentTo | DEND syndrome | | | -| MONDO:0861496 | episodic ataxia type 3 | GARD:16702 | MONDO:equivalentTo | Episodic ataxia type 3 | | | -| MONDO:0861497 | episodic ataxia type 4 | GARD:16703 | MONDO:equivalentTo | Episodic ataxia type 4 | | | -| MONDO:0861498 | generalized epilepsy-paroxysmal dyskinesia syndrome | GARD:16704 | MONDO:equivalentTo | Generalized epilepsy-paroxysmal dyskinesia syndrome | | | -| MONDO:0861499 | hereditary painful callosities | GARD:16705 | MONDO:equivalentTo | Hereditary painful callosities | | | -| MONDO:0861500 | familial progressive hyperpigmentation | GARD:16706 | MONDO:equivalentTo | Familial progressive hyperpigmentation | | | -| MONDO:0861501 | acrokeratosis verruciformis of hopf | GARD:16707 | MONDO:equivalentTo | Acrokeratosis verruciformis of Hopf | | | -| MONDO:0861502 | 2-aminoadipic 2-oxoadipic aciduria | GARD:16708 | MONDO:equivalentTo | 2-aminoadipic 2-oxoadipic aciduria | | | -| MONDO:0861503 | seizures-intellectual disability due to hydroxylysinuria syndrome | GARD:16709 | MONDO:equivalentTo | Seizures-intellectual disability due to hydroxylysinuria syndrome | | | -| MONDO:0861504 | multinodular goiter-cystic kidney-polydactyly syndrome | GARD:1671 | MONDO:equivalentTo | Multinodular goiter-cystic kidney-polydactyly syndrome | | | -| MONDO:0861505 | hypoxanthine guanine phosphoribosyltransferase partial deficiency | GARD:16710 | MONDO:equivalentTo | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | | | -| MONDO:0861506 | glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | GARD:16711 | MONDO:equivalentTo | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | -| MONDO:0861507 | pyruvate dehydrogenase e2 deficiency | GARD:16712 | MONDO:equivalentTo | Pyruvate dehydrogenase E2 deficiency | | | -| MONDO:0861508 | congenital bile acid synthesis defect type 3 | GARD:16713 | MONDO:equivalentTo | Congenital bile acid synthesis defect type 3 | | | -| MONDO:0861509 | vitamin b12-unresponsive methylmalonic acidemia type mut- | GARD:16714 | MONDO:equivalentTo | Vitamin B12-unresponsive methylmalonic acidemia type mut- | | | -| MONDO:0861510 | chondrodysplasia punctata, tibial-metacarpal type | GARD:16715 | MONDO:equivalentTo | Chondrodysplasia punctata, tibial-metacarpal type | | | -| MONDO:0861511 | chondrodysplasia punctata, toriello type | GARD:16716 | MONDO:equivalentTo | Chondrodysplasia punctata, Toriello type | | | -| MONDO:0861512 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | GARD:16717 | MONDO:equivalentTo | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | | | -| MONDO:0861513 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | GARD:16718 | MONDO:equivalentTo | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | | | -| MONDO:0861514 | keratoderma hereditarium mutilans with ichthyosis | GARD:16719 | MONDO:equivalentTo | Keratoderma hereditarium mutilans with ichthyosis | | | -| MONDO:0861515 | recessive dystrophic epidermolysis bullosa inversa | GARD:16720 | MONDO:equivalentTo | Recessive dystrophic epidermolysis bullosa inversa | | | -| MONDO:0861516 | oculocutaneous albinism type 1a | GARD:16721 | MONDO:equivalentTo | Oculocutaneous albinism type 1A | | | -| MONDO:0861517 | oculocutaneous albinism type 4 | GARD:16722 | MONDO:equivalentTo | Oculocutaneous albinism type 4 | | | -| MONDO:0861518 | maculopapular cutaneous mastocytosis | GARD:16723 | MONDO:equivalentTo | Maculopapular cutaneous mastocytosis | | | -| MONDO:0861519 | cholesterol-ester transfer protein deficiency | GARD:16724 | MONDO:equivalentTo | Cholesterol-ester transfer protein deficiency | | | -| MONDO:0861520 | hypotonia-failure to thrive-microcephaly syndrome | GARD:16725 | MONDO:equivalentTo | Hypotonia-failure to thrive-microcephaly syndrome | | | -| MONDO:0861521 | autosomal recessive hyperinsulinism due to sur1 deficiency | GARD:16726 | MONDO:equivalentTo | Autosomal recessive hyperinsulinism due to SUR1 deficiency | | | -| MONDO:0861522 | autosomal recessive hyperinsulinism due to kir6.2 deficiency | GARD:16727 | MONDO:equivalentTo | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | -| MONDO:0861523 | glomuvenous malformation | GARD:16728 | MONDO:equivalentTo | Glomuvenous malformation | | | -| MONDO:0861524 | enteric anendocrinosis | GARD:16729 | MONDO:equivalentTo | Enteric anendocrinosis | | | -| MONDO:0861525 | senior-boichis syndrome | GARD:16730 | MONDO:equivalentTo | Senior-Boichis syndrome | | | -| MONDO:0861526 | hereditary thermosensitive neuropathy | GARD:16731 | MONDO:equivalentTo | Hereditary thermosensitive neuropathy | | | -| MONDO:0861527 | desmin-related myopathy with mallory body-like inclusions | GARD:16732 | MONDO:equivalentTo | Desmin-related myopathy with Mallory body-like inclusions | | | -| MONDO:0861528 | palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome | GARD:16733 | MONDO:equivalentTo | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | | | -| MONDO:0861529 | bothnia retinal dystrophy | GARD:16734 | MONDO:equivalentTo | Bothnia retinal dystrophy | | | -| MONDO:0861530 | familial digital arthropathy-brachydactyly | GARD:16735 | MONDO:equivalentTo | Familial digital arthropathy-brachydactyly | | | -| MONDO:0861531 | microcephalic osteodysplastic dysplasia, saul-wilson type | GARD:16736 | MONDO:equivalentTo | Microcephalic osteodysplastic dysplasia, Saul-Wilson type | | | -| MONDO:0861532 | craniometadiaphyseal dysplasia, wormian bone type | GARD:16737 | MONDO:equivalentTo | Craniometadiaphyseal dysplasia, wormian bone type | | | -| MONDO:0861533 | metaphyseal dysplasia, braun-tinschert type | GARD:16738 | MONDO:equivalentTo | Metaphyseal dysplasia, Braun-Tinschert type | | | -| MONDO:0861534 | calvarial doughnut lesions-bone fragility syndrome | GARD:16739 | MONDO:equivalentTo | Calvarial doughnut lesions-bone fragility syndrome | | | -| MONDO:0861535 | spondylo-ocular syndrome | GARD:16740 | MONDO:equivalentTo | Spondylo-ocular syndrome | | | -| MONDO:0861536 | genochondromatosis type 1 | GARD:16741 | MONDO:equivalentTo | Genochondromatosis type 1 | | | -| MONDO:0861537 | x-linked intellectual disability, armfield type | GARD:16742 | MONDO:equivalentTo | X-linked intellectual disability, Armfield type | | | -| MONDO:0861538 | x-linked intellectual disability, cantagrel type | GARD:16743 | MONDO:equivalentTo | X-linked intellectual disability, Cantagrel type | | | -| MONDO:0861539 | kdm5c-related syndromic x-linked intellectual disability | GARD:16744 | MONDO:equivalentTo | KDM5C-related syndromic X-linked intellectual disability | | | -| MONDO:0861540 | x-linked intellectual disability-cubitus valgus-dysmorphism syndrome | GARD:16745 | MONDO:equivalentTo | X-linked intellectual disability-cubitus valgus-dysmorphism syndrome | | | -| MONDO:0861541 | bresek syndrome | GARD:16746 | MONDO:equivalentTo | BRESEK syndrome | | | -| MONDO:0861542 | x-linked intellectual disability, wilson type | GARD:16747 | MONDO:equivalentTo | X-linked intellectual disability, Wilson type | | | -| MONDO:0861543 | x-linked epilepsy-learning disabilities-behavior disorders syndrome | GARD:16748 | MONDO:equivalentTo | X-linked epilepsy-learning disabilities-behavior disorders syndrome | | | -| MONDO:0861544 | hsd10 disease, atypical type | GARD:16749 | MONDO:equivalentTo | HSD10 disease, atypical type | | | -| MONDO:0861545 | deafness-intellectual disability syndrome, martin-probst type | GARD:16750 | MONDO:equivalentTo | Deafness-intellectual disability syndrome, Martin-Probst type | | | -| MONDO:0861546 | x-linked intellectual disability, shrimpton type | GARD:16751 | MONDO:equivalentTo | X-linked intellectual disability, Shrimpton type | | | -| MONDO:0861547 | x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome | GARD:16752 | MONDO:equivalentTo | X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome | | | -| MONDO:0861548 | fried syndrome | GARD:16753 | MONDO:equivalentTo | Fried syndrome | | | -| MONDO:0861549 | attrv30m amyloidosis | GARD:16754 | MONDO:equivalentTo | ATTRV30M amyloidosis | | | -| MONDO:0861550 | attrv122i amyloidosis | GARD:16755 | MONDO:equivalentTo | ATTRV122I amyloidosis | | | -| MONDO:0861551 | x-linked reticulate pigmentary disorder | GARD:16756 | MONDO:equivalentTo | X-linked reticulate pigmentary disorder | | | -| MONDO:0861552 | helicoid peripapillary chorioretinal degeneration | GARD:16757 | MONDO:equivalentTo | Helicoid peripapillary chorioretinal degeneration | | | -| MONDO:0861553 | benign adult familial myoclonic epilepsy | GARD:16758 | MONDO:equivalentTo | Benign adult familial myoclonic epilepsy | | | -| MONDO:0861554 | aplasia of lacrimal and salivary glands | GARD:16759 | MONDO:equivalentTo | Aplasia of lacrimal and salivary glands | | | -| MONDO:0861555 | hemolytic anemia due to adenylate kinase deficiency | GARD:16760 | MONDO:equivalentTo | Hemolytic anemia due to adenylate kinase deficiency | | | -| MONDO:0861556 | alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | GARD:16761 | MONDO:equivalentTo | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | | | -| MONDO:0861557 | atrichia with papular lesions | GARD:16762 | MONDO:equivalentTo | Atrichia with papular lesions | | | -| MONDO:0861558 | lissencephaly type 3-metacarpal bone dysplasia syndrome | GARD:16763 | MONDO:equivalentTo | Lissencephaly type 3-metacarpal bone dysplasia syndrome | | | -| MONDO:0861559 | chronic myeloproliferative disease, unclassifiable | GARD:16764 | MONDO:equivalentTo | Chronic myeloproliferative disease, unclassifiable | | | -| MONDO:0861560 | interdigitating dendritic cell sarcoma | GARD:16765 | MONDO:equivalentTo | Interdigitating dendritic cell sarcoma | | | -| MONDO:0861561 | keratosis palmaris et plantaris-clinodactyly syndrome | GARD:16766 | MONDO:equivalentTo | Keratosis palmaris et plantaris-clinodactyly syndrome | | | -| MONDO:0861562 | hereditary palmoplantar keratoderma, gamborg-nielsen type | GARD:16767 | MONDO:equivalentTo | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | | | -| MONDO:0861563 | tritanopia | GARD:16768 | MONDO:equivalentTo | Tritanopia | | | -| MONDO:0861564 | terminal osseous dysplasia-pigmentary defects syndrome | GARD:16769 | MONDO:equivalentTo | Terminal osseous dysplasia-pigmentary defects syndrome | | | -| MONDO:0861565 | vacuolar myopathy with sarcoplasmic reticulum protein aggregates | GARD:16770 | MONDO:equivalentTo | Vacuolar myopathy with sarcoplasmic reticulum protein aggregates | | | -| MONDO:0861566 | hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | GARD:16771 | MONDO:equivalentTo | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | | | -| MONDO:0861567 | autosomal dominant progressive nephropathy with hypertension | GARD:16772 | MONDO:equivalentTo | Autosomal dominant progressive nephropathy with hypertension | | | -| MONDO:0861568 | hepatocellular carcinoma | GARD:16773 | MONDO:equivalentTo | Hepatocellular carcinoma | | | -| MONDO:0861569 | x-linked alport syndrome | GARD:16774 | MONDO:equivalentTo | X-linked Alport syndrome | | | -| MONDO:0861570 | pseudohypoaldosteronism type 2a | GARD:16775 | MONDO:equivalentTo | Pseudohypoaldosteronism type 2A | | | -| MONDO:0861571 | pseudohypoaldosteronism type 2b | GARD:16776 | MONDO:equivalentTo | Pseudohypoaldosteronism type 2B | | | -| MONDO:0861572 | pseudohypoaldosteronism type 2c | GARD:16777 | MONDO:equivalentTo | Pseudohypoaldosteronism type 2C | | | -| MONDO:0861573 | autosomal recessive generalized epidermolysis bullosa simplex | GARD:16778 | MONDO:equivalentTo | Autosomal recessive generalized epidermolysis bullosa simplex | | | -| MONDO:0861574 | dystrophic epidermolysis bullosa pruriginosa | GARD:16779 | MONDO:equivalentTo | Dystrophic epidermolysis bullosa pruriginosa | | | -| MONDO:0861575 | lissencephaly syndrome, norman-roberts type | GARD:16780 | MONDO:equivalentTo | Lissencephaly syndrome, Norman-Roberts type | | | -| MONDO:0861576 | autosomal dominant hypophosphatemic rickets | GARD:16781 | MONDO:equivalentTo | Autosomal dominant hypophosphatemic rickets | | | -| MONDO:0861577 | x-linked cone dysfunction syndrome with myopia | GARD:16782 | MONDO:equivalentTo | X-linked cone dysfunction syndrome with myopia | | | -| MONDO:0861578 | primary immunodeficiency syndrome due to lamtor2 deficiency | GARD:16783 | MONDO:equivalentTo | Primary immunodeficiency syndrome due to LAMTOR2 deficiency | | | -| MONDO:0861579 | hemolytic anemia due to glutathione reductase deficiency | GARD:16784 | MONDO:equivalentTo | Hemolytic anemia due to glutathione reductase deficiency | | | -| MONDO:0861580 | familial pseudohyperkalemia | GARD:16785 | MONDO:equivalentTo | Familial pseudohyperkalemia | | | -| MONDO:0861581 | charcot-marie-tooth disease-deafness-intellectual disability syndrome | GARD:16786 | MONDO:equivalentTo | Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome | | | -| MONDO:0861582 | hereditary motor and sensory neuropathy type 6 | GARD:16787 | MONDO:equivalentTo | Hereditary motor and sensory neuropathy type 6 | | | -| MONDO:0861583 | klippel-trénaunay syndrome | GARD:16788 | MONDO:equivalentTo | Klippel-Trénaunay syndrome | | | -| MONDO:0861584 | hypotrichosis simplex of the scalp | GARD:16789 | MONDO:equivalentTo | Hypotrichosis simplex of the scalp | | | -| MONDO:0861585 | x-linked non-syndromic sensorineural deafness type dfn | GARD:16790 | MONDO:equivalentTo | X-linked non-syndromic sensorineural deafness type DFN | | | -| MONDO:0861586 | autosomal dominant non-syndromic sensorineural deafness type dfna | GARD:16791 | MONDO:equivalentTo | Autosomal dominant non-syndromic sensorineural deafness type DFNA | | | -| MONDO:0861587 | mitochondrial non-syndromic sensorineural deafness | GARD:16792 | MONDO:equivalentTo | Mitochondrial non-syndromic sensorineural deafness | | | -| MONDO:0861588 | hypothyroidism due to tsh receptor mutations | GARD:16793 | MONDO:equivalentTo | Hypothyroidism due to TSH receptor mutations | | | -| MONDO:0861589 | 46,xy disorder of sex development due to isolated 17,20-lyase deficiency | GARD:16794 | MONDO:equivalentTo | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | -| MONDO:0861590 | cardiomyopathy-hypotonia-lactic acidosis syndrome | GARD:16795 | MONDO:equivalentTo | Cardiomyopathy-hypotonia-lactic acidosis syndrome | | | -| MONDO:0861591 | body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency | GARD:16796 | MONDO:equivalentTo | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | | | -| MONDO:0861592 | isolated cryptophthalmia | GARD:16797 | MONDO:equivalentTo | Isolated cryptophthalmia | | | -| MONDO:0861593 | congenital ptosis | GARD:16798 | MONDO:equivalentTo | Congenital ptosis | | | -| MONDO:0861594 | isolated congenital alacrima | GARD:16799 | MONDO:equivalentTo | Isolated congenital alacrima | | | -| MONDO:0861595 | symbrachydactyly of hands and feet | GARD:1680 | MONDO:equivalentTo | Symbrachydactyly of hands and feet | | | -| MONDO:0861596 | isolated congenital sclerocornea | GARD:16800 | MONDO:equivalentTo | Isolated congenital sclerocornea | | | -| MONDO:0861597 | early-onset non-syndromic cataract | GARD:16801 | MONDO:equivalentTo | Early-onset non-syndromic cataract | | | -| MONDO:0861598 | macular coloboma-cleft palate-hallux valgus syndrome | GARD:16802 | MONDO:equivalentTo | Macular coloboma-cleft palate-hallux valgus syndrome | | | -| MONDO:0861599 | persistent hyperplastic primary vitreous | GARD:16803 | MONDO:equivalentTo | Persistent hyperplastic primary vitreous | | | -| MONDO:0861600 | renal agenesis, unilateral | GARD:16804 | MONDO:equivalentTo | Renal agenesis, unilateral | | | -| MONDO:0861601 | hypocalcemic vitamin d-resistant rickets | GARD:16805 | MONDO:equivalentTo | Hypocalcemic vitamin D-resistant rickets | | | -| MONDO:0861602 | fragile x-associated tremor/ataxia syndrome | GARD:16806 | MONDO:equivalentTo | Fragile X-associated tremor/ataxia syndrome | | | -| MONDO:0861603 | pfeiffer syndrome type 1 | GARD:16807 | MONDO:equivalentTo | Pfeiffer syndrome type 1 | | | -| MONDO:0861604 | pfeiffer syndrome type 2 | GARD:16808 | MONDO:equivalentTo | Pfeiffer syndrome type 2 | | | -| MONDO:0861605 | pfeiffer syndrome type 3 | GARD:16809 | MONDO:equivalentTo | Pfeiffer syndrome type 3 | | | -| MONDO:0861606 | crouzon syndrome-acanthosis nigricans syndrome | GARD:16810 | MONDO:equivalentTo | Crouzon syndrome-acanthosis nigricans syndrome | | | -| MONDO:0861607 | cloverleaf skull-multiple congenital anomalies syndrome | GARD:16811 | MONDO:equivalentTo | Cloverleaf skull-multiple congenital anomalies syndrome | | | -| MONDO:0861608 | mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis | GARD:16812 | MONDO:equivalentTo | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis | | | -| MONDO:0861609 | spondyloepimetaphyseal dysplasia, papss2 type | GARD:16813 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia, PAPSS2 type | | | -| MONDO:0861610 | spondyloepiphyseal dysplasia, kimberley type | GARD:16814 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia, Kimberley type | | | -| MONDO:0861611 | hypochondrogenesis | GARD:16815 | MONDO:equivalentTo | Hypochondrogenesis | | | -| MONDO:0861612 | brachyolmia, maroteaux type | GARD:16816 | MONDO:equivalentTo | Brachyolmia, Maroteaux type | | | -| MONDO:0861613 | postaxial polydactyly type a | GARD:16817 | MONDO:equivalentTo | Postaxial polydactyly type A | | | -| MONDO:0861614 | postaxial polydactyly type b | GARD:16818 | MONDO:equivalentTo | Postaxial polydactyly type B | | | -| MONDO:0861615 | spondyloepimetaphyseal dysplasia, irapa type | GARD:16819 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia, Irapa type | | | -| MONDO:0861616 | genochondromatosis type 2 | GARD:16820 | MONDO:equivalentTo | Genochondromatosis type 2 | | | -| MONDO:0861617 | brachydactyly-syndactyly, zhao type | GARD:16821 | MONDO:equivalentTo | Brachydactyly-syndactyly, Zhao type | | | -| MONDO:0861618 | ciliopathies with major skeletal involvement | GARD:16822 | MONDO:equivalentTo | Ciliopathies with major skeletal involvement | | | -| MONDO:0861619 | atypical hemolytic uremic syndrome with anti-factor h antibodies | GARD:16823 | MONDO:equivalentTo | Atypical hemolytic uremic syndrome with anti-factor H antibodies | | | -| MONDO:0861620 | late-onset nephronophthisis | GARD:16824 | MONDO:equivalentTo | Late-onset nephronophthisis | | | -| MONDO:0861621 | infantile nephronophthisis | GARD:16825 | MONDO:equivalentTo | Infantile nephronophthisis | | | -| MONDO:0861622 | autosomal recessive proximal renal tubular acidosis | GARD:16826 | MONDO:equivalentTo | Autosomal recessive proximal renal tubular acidosis | | | -| MONDO:0861623 | cystinuria type a | GARD:16827 | MONDO:equivalentTo | Cystinuria type A | | | -| MONDO:0861624 | cystinuria type b | GARD:16828 | MONDO:equivalentTo | Cystinuria type B | | | -| MONDO:0861625 | hemoglobin h disease | GARD:16829 | MONDO:equivalentTo | Hemoglobin H disease | | | -| MONDO:0861626 | lobar holoprosencephaly | GARD:16830 | MONDO:equivalentTo | Lobar holoprosencephaly | | | -| MONDO:0861627 | alobar holoprosencephaly | GARD:16831 | MONDO:equivalentTo | Alobar holoprosencephaly | | | -| MONDO:0861628 | midline interhemispheric variant of holoprosencephaly | GARD:16832 | MONDO:equivalentTo | Midline interhemispheric variant of holoprosencephaly | | | -| MONDO:0861629 | laryngotracheoesophageal cleft type 3 | GARD:16833 | MONDO:equivalentTo | Laryngotracheoesophageal cleft type 3 | | | -| MONDO:0861630 | x-linked intellectual disability, hedera type | GARD:16834 | MONDO:equivalentTo | X-linked intellectual disability, Hedera type | | | -| MONDO:0861631 | anotia | GARD:16835 | MONDO:equivalentTo | Anotia | | | -| MONDO:0861632 | cerebellar ataxia, cayman type | GARD:16836 | MONDO:equivalentTo | Cerebellar ataxia, Cayman type | | | -| MONDO:0861633 | anonychia congenita totalis | GARD:16837 | MONDO:equivalentTo | Anonychia congenita totalis | | | -| MONDO:0861634 | lissencephaly due to lis1 mutation | GARD:16838 | MONDO:equivalentTo | Lissencephaly due to LIS1 mutation | | | -| MONDO:0861635 | familial adrenal hypoplasia with absent pituitary luteinizing hormone | GARD:16839 | MONDO:equivalentTo | Familial adrenal hypoplasia with absent pituitary luteinizing hormone | | | -| MONDO:0861636 | deafness-ear malformation-facial palsy syndrome | GARD:1684 | MONDO:equivalentTo | Deafness-ear malformation-facial palsy syndrome | | | -| MONDO:0861637 | non-syndromic posterior hypospadias | GARD:16840 | MONDO:equivalentTo | Non-syndromic posterior hypospadias | | | -| MONDO:0861638 | thyroid ectopia | GARD:16841 | MONDO:equivalentTo | Thyroid ectopia | | | -| MONDO:0861639 | athyreosis | GARD:16842 | MONDO:equivalentTo | Athyreosis | | | -| MONDO:0861640 | familial thyroid dyshormonogenesis | GARD:16843 | MONDO:equivalentTo | Familial thyroid dyshormonogenesis | | | -| MONDO:0861641 | thyroid hemiagenesis | GARD:16844 | MONDO:equivalentTo | Thyroid hemiagenesis | | | -| MONDO:0861642 | distal monosomy 6p | GARD:16845 | MONDO:equivalentTo | Distal monosomy 6p | | | -| MONDO:0861643 | kleefstra syndrome due to 9q34 microdeletion | GARD:16846 | MONDO:equivalentTo | Kleefstra syndrome due to 9q34 microdeletion | | | -| MONDO:0861644 | monosomy 13q34 | GARD:16847 | MONDO:equivalentTo | Monosomy 13q34 | | | -| MONDO:0861645 | temple syndrome due to maternal uniparental disomy of chromosome 14 | GARD:16848 | MONDO:equivalentTo | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | -| MONDO:0861646 | maternal uniparental disomy of chromosome 20 | GARD:16849 | MONDO:equivalentTo | Maternal uniparental disomy of chromosome 20 | | | -| MONDO:0861647 | doors syndrome | GARD:1685 | MONDO:equivalentTo | DOORS syndrome | | | -| MONDO:0861648 | somatotropic adenoma | GARD:16850 | MONDO:equivalentTo | Somatotropic adenoma | | | -| MONDO:0861649 | leydig cell hypoplasia due to complete lh resistance | GARD:16851 | MONDO:equivalentTo | Leydig cell hypoplasia due to complete LH resistance | | | -| MONDO:0861650 | leydig cell hypoplasia due to partial lh resistance | GARD:16852 | MONDO:equivalentTo | Leydig cell hypoplasia due to partial LH resistance | | | -| MONDO:0861651 | familial papillary thyroid carcinoma with renal papillary neoplasia | GARD:16853 | MONDO:equivalentTo | Familial papillary thyroid carcinoma with renal papillary neoplasia | | | -| MONDO:0861652 | renal tubular dysgenesis of genetic origin | GARD:16854 | MONDO:equivalentTo | Renal tubular dysgenesis of genetic origin | | | -| MONDO:0861653 | lymphoproliferative disease associated with primary immune disease | GARD:16855 | MONDO:equivalentTo | Lymphoproliferative disease associated with primary immune disease | | | -| MONDO:0861654 | hereditary combined deficiency of vitamin k-dependent clotting factors | GARD:16856 | MONDO:equivalentTo | Hereditary combined deficiency of vitamin K-dependent clotting factors | | | -| MONDO:0861655 | developmental defect of the eye | GARD:16857 | MONDO:equivalentTo | Developmental defect of the eye | | | -| MONDO:0861656 | syndromic orbital border hypoplasia | GARD:16858 | MONDO:equivalentTo | Syndromic orbital border hypoplasia | | | -| MONDO:0861657 | rare isolated myopia | GARD:16859 | MONDO:equivalentTo | Rare isolated myopia | | | -| MONDO:0861658 | deafness-craniofacial syndrome | GARD:1686 | MONDO:equivalentTo | Deafness-craniofacial syndrome | | | -| MONDO:0861659 | autosomal recessive isolated optic atrophy | GARD:16860 | MONDO:equivalentTo | Autosomal recessive isolated optic atrophy | | | -| MONDO:0861660 | prader-willi syndrome due to maternal uniparental disomy of chromosome 15 | GARD:16861 | MONDO:equivalentTo | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | -| MONDO:0861661 | alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | GARD:16862 | MONDO:equivalentTo | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | | | -| MONDO:0861662 | acute undifferentiated leukemia | GARD:16863 | MONDO:equivalentTo | Acute undifferentiated leukemia | | | -| MONDO:0861663 | desquamative interstitial pneumonia | GARD:16864 | MONDO:equivalentTo | Desquamative interstitial pneumonia | | | -| MONDO:0861664 | autosomal dominant emery-dreifuss muscular dystrophy | GARD:16865 | MONDO:equivalentTo | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | -| MONDO:0861665 | autosomal recessive emery-dreifuss muscular dystrophy | GARD:16866 | MONDO:equivalentTo | Autosomal recessive Emery-Dreifuss muscular dystrophy | | | -| MONDO:0861666 | southeast asian ovalocytosis | GARD:16867 | MONDO:equivalentTo | Southeast Asian ovalocytosis | | | -| MONDO:0861667 | bleeding diathesis due to integrin alpha2-beta1 deficiency | GARD:16868 | MONDO:equivalentTo | Bleeding diathesis due to integrin alpha2-beta1 deficiency | | | -| MONDO:0861668 | congenital myopathy with excess of thin filaments | GARD:16869 | MONDO:equivalentTo | Congenital myopathy with excess of thin filaments | | | -| MONDO:0861669 | deafness-enamel hypoplasia-nail defects syndrome | GARD:1687 | MONDO:equivalentTo | Deafness-enamel hypoplasia-nail defects syndrome | | | -| MONDO:0861670 | desminopathy | GARD:16870 | MONDO:equivalentTo | Desminopathy | | | -| MONDO:0861671 | distal myotilinopathy | GARD:16871 | MONDO:equivalentTo | Distal myotilinopathy | | | -| MONDO:0861672 | synaptic congenital myasthenic syndromes | GARD:16872 | MONDO:equivalentTo | Synaptic congenital myasthenic syndromes | | | -| MONDO:0861673 | acute inflammatory demyelinating polyradiculoneuropathy | GARD:16873 | MONDO:equivalentTo | Acute inflammatory demyelinating polyradiculoneuropathy | | | -| MONDO:0861674 | huntington disease-like 2 | GARD:16874 | MONDO:equivalentTo | Huntington disease-like 2 | | | -| MONDO:0861675 | coloboma of choroid and retina | GARD:16875 | MONDO:equivalentTo | Coloboma of choroid and retina | | | -| MONDO:0861676 | complete cryptophthalmia | GARD:16876 | MONDO:equivalentTo | Complete cryptophthalmia | | | -| MONDO:0861677 | lisch epithelial corneal dystrophy | GARD:16877 | MONDO:equivalentTo | Lisch epithelial corneal dystrophy | | | -| MONDO:0861678 | subepithelial mucinous corneal dystrophy | GARD:16878 | MONDO:equivalentTo | Subepithelial mucinous corneal dystrophy | | | -| MONDO:0861679 | fleck corneal dystrophy | GARD:16879 | MONDO:equivalentTo | Fleck corneal dystrophy | | | -| MONDO:0861680 | deafness-epiphyseal dysplasia-short stature syndrome | GARD:1688 | MONDO:equivalentTo | Deafness-epiphyseal dysplasia-short stature syndrome | | | -| MONDO:0861681 | posterior amorphous corneal dystrophy | GARD:16880 | MONDO:equivalentTo | Posterior amorphous corneal dystrophy | | | -| MONDO:0861682 | central cloudy dystrophy of françois | GARD:16881 | MONDO:equivalentTo | Central cloudy dystrophy of François | | | -| MONDO:0861683 | posterior polymorphous corneal dystrophy | GARD:16882 | MONDO:equivalentTo | Posterior polymorphous corneal dystrophy | | | -| MONDO:0861684 | juvenile glaucoma | GARD:16883 | MONDO:equivalentTo | Juvenile glaucoma | | | -| MONDO:0861685 | pulverulent cataract | GARD:16884 | MONDO:equivalentTo | Pulverulent cataract | | | -| MONDO:0861686 | early-onset sutural cataract | GARD:16885 | MONDO:equivalentTo | Early-onset sutural cataract | | | -| MONDO:0861687 | coralliform cataract | GARD:16886 | MONDO:equivalentTo | Coralliform cataract | | | -| MONDO:0861688 | early-onset nuclear cataract | GARD:16887 | MONDO:equivalentTo | Early-onset nuclear cataract | | | -| MONDO:0861689 | early-onset partial cataract | GARD:16888 | MONDO:equivalentTo | Early-onset partial cataract | | | -| MONDO:0861690 | early-onset posterior polar cataract | GARD:16889 | MONDO:equivalentTo | Early-onset posterior polar cataract | | | -| MONDO:0861691 | butterfly-shaped pigment dystrophy | GARD:16890 | MONDO:equivalentTo | Butterfly-shaped pigment dystrophy | | | -| MONDO:0861692 | reticular dystrophy of the retinal pigment epithelium | GARD:16891 | MONDO:equivalentTo | Reticular dystrophy of the retinal pigment epithelium | | | -| MONDO:0861693 | discrete fixed membranous subaortic stenosis | GARD:16892 | MONDO:equivalentTo | Discrete fixed membranous subaortic stenosis | | | -| MONDO:0861694 | complete atrioventricular septal defect with ventricular hypoplasia | GARD:16893 | MONDO:equivalentTo | Complete atrioventricular septal defect with ventricular hypoplasia | | | -| MONDO:0861695 | complete atrioventricular septal defect-tetralogy of fallot | GARD:16894 | MONDO:equivalentTo | Complete atrioventricular septal defect-tetralogy of Fallot | | | -| MONDO:0861696 | interventricular septum aneurysm | GARD:16895 | MONDO:equivalentTo | Interventricular septum aneurysm | | | -| MONDO:0861697 | congenital total pulmonary venous return anomaly | GARD:16896 | MONDO:equivalentTo | Congenital total pulmonary venous return anomaly | | | -| MONDO:0861698 | 6-phosphogluconate dehydrogenase deficiency | GARD:16897 | MONDO:equivalentTo | 6-phosphogluconate dehydrogenase deficiency | | | -| MONDO:0861699 | lymphedema-posterior choanal atresia syndrome | GARD:16898 | MONDO:equivalentTo | Lymphedema-posterior choanal atresia syndrome | | | -| MONDO:0861700 | isolated distichiasis | GARD:16899 | MONDO:equivalentTo | Isolated distichiasis | | | -| MONDO:0861701 | schneckenbecken dysplasia | GARD:169 | MONDO:equivalentTo | Schneckenbecken dysplasia | | | -| MONDO:0861702 | kandori fleck retina | GARD:16900 | MONDO:equivalentTo | Kandori fleck retina | | | -| MONDO:0861703 | familial medullary thyroid carcinoma | GARD:16901 | MONDO:equivalentTo | Familial medullary thyroid carcinoma | | | -| MONDO:0861704 | metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria | GARD:16902 | MONDO:equivalentTo | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | -| MONDO:0861705 | fried's tooth and nail syndrome | GARD:16903 | MONDO:equivalentTo | Fried's tooth and nail syndrome | | | -| MONDO:0861706 | myotonia fluctuans | GARD:16904 | MONDO:equivalentTo | Myotonia fluctuans | | | -| MONDO:0861707 | myotonia permanens | GARD:16905 | MONDO:equivalentTo | Myotonia permanens | | | -| MONDO:0861708 | acetazolamide-responsive myotonia | GARD:16906 | MONDO:equivalentTo | Acetazolamide-responsive myotonia | | | -| MONDO:0861709 | cleft velum | GARD:16907 | MONDO:equivalentTo | Cleft velum | | | -| MONDO:0861710 | oligodontia | GARD:16908 | MONDO:equivalentTo | Oligodontia | | | -| MONDO:0861711 | haddad syndrome | GARD:16909 | MONDO:equivalentTo | Haddad syndrome | | | -| MONDO:0861712 | deafness-hypogonadism syndrome | GARD:1691 | MONDO:equivalentTo | Deafness-hypogonadism syndrome | | | -| MONDO:0861713 | oculootodental syndrome | GARD:16910 | MONDO:equivalentTo | Oculootodental syndrome | | | -| MONDO:0861714 | peho-like syndrome | GARD:16911 | MONDO:equivalentTo | PEHO-like syndrome | | | -| MONDO:0861715 | turcot syndrome with polyposis | GARD:16912 | MONDO:equivalentTo | Turcot syndrome with polyposis | | | -| MONDO:0861716 | familial gestational hyperthyroidism | GARD:16913 | MONDO:equivalentTo | Familial gestational hyperthyroidism | | | -| MONDO:0861717 | resistance to thyrotropin-releasing hormone syndrome | GARD:16914 | MONDO:equivalentTo | Resistance to thyrotropin-releasing hormone syndrome | | | -| MONDO:0861718 | leukocyte adhesion deficiency type iii | GARD:16915 | MONDO:equivalentTo | Leukocyte adhesion deficiency type III | | | -| MONDO:0861719 | genetic recurrent myoglobinuria | GARD:16916 | MONDO:equivalentTo | Genetic recurrent myoglobinuria | | | -| MONDO:0861720 | autosomal dominant myoglobinuria | GARD:16917 | MONDO:equivalentTo | Autosomal dominant myoglobinuria | | | -| MONDO:0861721 | ovarioleukodystrophy | GARD:16918 | MONDO:equivalentTo | Ovarioleukodystrophy | | | -| MONDO:0861722 | cree leukoencephalopathy | GARD:16919 | MONDO:equivalentTo | Cree leukoencephalopathy | | | -| MONDO:0861723 | precursor b-cell acute lymphoblastic leukemia | GARD:16920 | MONDO:equivalentTo | Precursor B-cell acute lymphoblastic leukemia | | | -| MONDO:0861724 | spermatocytic seminoma | GARD:16921 | MONDO:equivalentTo | Spermatocytic seminoma | | | -| MONDO:0861725 | thymoma | GARD:16922 | MONDO:equivalentTo | Thymoma | | | -| MONDO:0861726 | familial isolated hyperparathyroidism | GARD:16923 | MONDO:equivalentTo | Familial isolated hyperparathyroidism | | | -| MONDO:0861727 | pigeon-breeder lung disease | GARD:16924 | MONDO:equivalentTo | Pigeon-breeder lung disease | | | -| MONDO:0861728 | autosomal dominant charcot-marie-tooth disease type 2a2 | GARD:16925 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | -| MONDO:0861729 | atypical teratoid rhabdoid tumor | GARD:16926 | MONDO:equivalentTo | Atypical teratoid rhabdoid tumor | | | -| MONDO:0861730 | adenocarcinoma of the esophagus | GARD:16927 | MONDO:equivalentTo | Adenocarcinoma of the esophagus | | | -| MONDO:0861731 | complex regional pain syndrome type 1 | GARD:16928 | MONDO:equivalentTo | Complex regional pain syndrome type 1 | | | -| MONDO:0861732 | abeta amyloidosis, dutch type | GARD:16929 | MONDO:equivalentTo | ABeta amyloidosis, Dutch type | | | -| MONDO:0861733 | acys amyloidosis | GARD:16930 | MONDO:equivalentTo | ACys amyloidosis | | | -| MONDO:0861734 | hypocalcified amelogenesis imperfecta | GARD:16931 | MONDO:equivalentTo | Hypocalcified amelogenesis imperfecta | | | -| MONDO:0861735 | hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | GARD:16932 | MONDO:equivalentTo | Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | | | -| MONDO:0861736 | hereditary angioedema type 1 | GARD:16933 | MONDO:equivalentTo | Hereditary angioedema type 1 | | | -| MONDO:0861737 | hereditary angioedema type 2 | GARD:16934 | MONDO:equivalentTo | Hereditary angioedema type 2 | | | -| MONDO:0861738 | f12-related hereditary angioedema with normal c1inh | GARD:16935 | MONDO:equivalentTo | F12-related hereditary angioedema with normal C1Inh | | | -| MONDO:0861739 | renin-angiotensin-aldosterone system-blocker-induced angioedema | GARD:16936 | MONDO:equivalentTo | Renin-angiotensin-aldosterone system-blocker-induced angioedema | | | -| MONDO:0861740 | porphyria due to ala dehydratase deficiency | GARD:16937 | MONDO:equivalentTo | Porphyria due to ALA dehydratase deficiency | | | -| MONDO:0861741 | bathing suit ichthyosis | GARD:16938 | MONDO:equivalentTo | Bathing suit ichthyosis | | | -| MONDO:0861742 | autosomal recessive spastic paraplegia type 21 | GARD:16939 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 21 | | | -| MONDO:0861743 | autosomal recessive spastic paraplegia type 27 | GARD:16940 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 27 | | | -| MONDO:0861744 | autosomal recessive spastic paraplegia type 28 | GARD:16941 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 28 | | | -| MONDO:0861745 | autosomal spastic paraplegia type 30 | GARD:16942 | MONDO:equivalentTo | Autosomal spastic paraplegia type 30 | | | -| MONDO:0861746 | congenital stromal corneal dystrophy | GARD:16943 | MONDO:equivalentTo | Congenital stromal corneal dystrophy | | | -| MONDO:0861747 | familial isolated congenital asplenia | GARD:16944 | MONDO:equivalentTo | Familial isolated congenital asplenia | | | -| MONDO:0861748 | congenital sodium diarrhea | GARD:16945 | MONDO:equivalentTo | Congenital sodium diarrhea | | | -| MONDO:0861749 | tropical pancreatitis | GARD:16946 | MONDO:equivalentTo | Tropical pancreatitis | | | -| MONDO:0861750 | lung fibrosis-immunodeficiency-46,xx gonadal dysgenesis syndrome | GARD:16947 | MONDO:equivalentTo | Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome | | | -| MONDO:0861751 | hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome | GARD:16948 | MONDO:equivalentTo | Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome | | | -| MONDO:0861752 | hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | GARD:16949 | MONDO:equivalentTo | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | | | -| MONDO:0861753 | lowe-kohn-cohen syndrome | GARD:1695 | MONDO:equivalentTo | Lowe-Kohn-Cohen syndrome | | | -| MONDO:0861754 | hypotonia with lactic acidemia and hyperammonemia | GARD:16950 | MONDO:equivalentTo | Hypotonia with lactic acidemia and hyperammonemia | | | -| MONDO:0861755 | choanal atresia | GARD:16951 | MONDO:equivalentTo | Choanal atresia | | | -| MONDO:0861756 | 17q11.2 microduplication syndrome | GARD:16952 | MONDO:equivalentTo | 17q11.2 microduplication syndrome | | | -| MONDO:0861757 | distal hereditary motor neuropathy type 1 | GARD:16953 | MONDO:equivalentTo | Distal hereditary motor neuropathy type 1 | | | -| MONDO:0861758 | distal hereditary motor neuropathy type 2 | GARD:16954 | MONDO:equivalentTo | Distal hereditary motor neuropathy type 2 | | | -| MONDO:0861759 | distal hereditary motor neuropathy type 5 | GARD:16955 | MONDO:equivalentTo | Distal hereditary motor neuropathy type 5 | | | -| MONDO:0861760 | distal spinal muscular atrophy type 3 | GARD:16956 | MONDO:equivalentTo | Distal spinal muscular atrophy type 3 | | | -| MONDO:0861761 | x-linked distal spinal muscular atrophy type 3 | GARD:16957 | MONDO:equivalentTo | X-linked distal spinal muscular atrophy type 3 | | | -| MONDO:0861762 | hereditary sensory and autonomic neuropathy type 1b | GARD:16958 | MONDO:equivalentTo | Hereditary sensory and autonomic neuropathy type 1B | | | -| MONDO:0861763 | mutilating hereditary sensory neuropathy with spastic paraplegia | GARD:16959 | MONDO:equivalentTo | Mutilating hereditary sensory neuropathy with spastic paraplegia | | | -| MONDO:0861764 | isolated growth hormone deficiency type ii | GARD:1696 | MONDO:equivalentTo | Isolated growth hormone deficiency type II | | | -| MONDO:0861765 | distal hereditary motor neuropathy type 7 | GARD:16960 | MONDO:equivalentTo | Distal hereditary motor neuropathy type 7 | | | -| MONDO:0861766 | primary intraosseous venous malformation | GARD:16961 | MONDO:equivalentTo | Primary intraosseous venous malformation | | | -| MONDO:0861767 | autosomal dominant slowed nerve conduction velocity | GARD:16962 | MONDO:equivalentTo | Autosomal dominant slowed nerve conduction velocity | | | -| MONDO:0861768 | brachydactyly type b2 | GARD:16963 | MONDO:equivalentTo | Brachydactyly type B2 | | | -| MONDO:0861769 | short stature due to primary acid-labile subunit deficiency | GARD:16964 | MONDO:equivalentTo | Short stature due to primary acid-labile subunit deficiency | | | -| MONDO:0861770 | autosomal dominant macrothrombocytopenia | GARD:16965 | MONDO:equivalentTo | Autosomal dominant macrothrombocytopenia | | | -| MONDO:0861771 | bilateral microtia-deafness-cleft palate syndrome | GARD:16966 | MONDO:equivalentTo | Bilateral microtia-deafness-cleft palate syndrome | | | -| MONDO:0861772 | palmoplantar keratoderma, nagashima type | GARD:16967 | MONDO:equivalentTo | Palmoplantar keratoderma, Nagashima type | | | -| MONDO:0861773 | second branchial cleft anomaly | GARD:16968 | MONDO:equivalentTo | Second branchial cleft anomaly | | | -| MONDO:0861774 | external auditory canal aplasia/hypoplasia | GARD:16969 | MONDO:equivalentTo | External auditory canal aplasia/hypoplasia | | | -| MONDO:0861775 | nasal dermoid cyst | GARD:16970 | MONDO:equivalentTo | Nasal dermoid cyst | | | -| MONDO:0861776 | hemifacial hyperplasia | GARD:16971 | MONDO:equivalentTo | Hemifacial hyperplasia | | | -| MONDO:0861777 | isolated congenital hypoglossia/aglossia | GARD:16972 | MONDO:equivalentTo | Isolated congenital hypoglossia/aglossia | | | -| MONDO:0861778 | paramedian nasal cleft | GARD:16973 | MONDO:equivalentTo | Paramedian nasal cleft | | | -| MONDO:0861779 | tessier number 4 facial cleft | GARD:16974 | MONDO:equivalentTo | Tessier number 4 facial cleft | | | -| MONDO:0861780 | tessier number 7 facial cleft | GARD:16975 | MONDO:equivalentTo | Tessier number 7 facial cleft | | | -| MONDO:0861781 | cleft lip and alveolus | GARD:16976 | MONDO:equivalentTo | Cleft lip and alveolus | | | -| MONDO:0861782 | hereditary hypophosphatemic rickets with hypercalciuria | GARD:16977 | MONDO:equivalentTo | Hereditary hypophosphatemic rickets with hypercalciuria | | | -| MONDO:0861783 | congenital or early infantile cach syndrome | GARD:16978 | MONDO:equivalentTo | Congenital or early infantile CACH syndrome | | | -| MONDO:0861784 | late infantile cach syndrome | GARD:16979 | MONDO:equivalentTo | Late infantile CACH syndrome | | | -| MONDO:0861785 | deafness-oligodontia syndrome | GARD:1698 | MONDO:equivalentTo | Deafness-oligodontia syndrome | | | -| MONDO:0861786 | juvenile or adult cach syndrome | GARD:16980 | MONDO:equivalentTo | Juvenile or adult CACH syndrome | | | -| MONDO:0861787 | hereditary mixed polyposis syndrome | GARD:16981 | MONDO:equivalentTo | Hereditary mixed polyposis syndrome | | | -| MONDO:0861788 | serrated polyposis syndrome | GARD:16982 | MONDO:equivalentTo | Serrated polyposis syndrome | | | -| MONDO:0861789 | cold-induced sweating syndrome | GARD:16983 | MONDO:equivalentTo | Cold-induced sweating syndrome | | | -| MONDO:0861790 | craniorhiny | GARD:16984 | MONDO:equivalentTo | Craniorhiny | | | -| MONDO:0861791 | huntington disease-like 1 | GARD:16985 | MONDO:equivalentTo | Huntington disease-like 1 | | | -| MONDO:0861792 | huntington disease-like 3 | GARD:16986 | MONDO:equivalentTo | Huntington disease-like 3 | | | -| MONDO:0861793 | ane syndrome | GARD:16987 | MONDO:equivalentTo | ANE syndrome | | | -| MONDO:0861794 | oculoauricular syndrome, schorderet type | GARD:16988 | MONDO:equivalentTo | Oculoauricular syndrome, Schorderet type | | | -| MONDO:0861795 | hereditary progressive mucinous histiocytosis | GARD:16989 | MONDO:equivalentTo | Hereditary progressive mucinous histiocytosis | | | -| MONDO:0861796 | epidermolysis bullosa simplex with circinate migratory erythema | GARD:16990 | MONDO:equivalentTo | Epidermolysis bullosa simplex with circinate migratory erythema | | | -| MONDO:0861797 | epidermolysis bullosa simplex with pyloric atresia | GARD:16991 | MONDO:equivalentTo | Epidermolysis bullosa simplex with pyloric atresia | | | -| MONDO:0861798 | hb bart's hydrops fetalis | GARD:16992 | MONDO:equivalentTo | Hb Bart's hydrops fetalis | | | -| MONDO:0861799 | spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome | GARD:16993 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome | | | -| MONDO:0861800 | spondyloepiphyseal dysplasia, reardon type | GARD:16994 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia, Reardon type | | | -| MONDO:0861801 | spondyloepiphyseal dysplasia tarda, kohn type | GARD:16995 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia tarda, Kohn type | | | -| MONDO:0861802 | spondyloepiphyseal dysplasia, macdermot type | GARD:16996 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia, MacDermot type | | | -| MONDO:0861803 | cntnap2-related developmental and epileptic encephalopathy | GARD:16997 | MONDO:equivalentTo | CNTNAP2-related developmental and epileptic encephalopathy | | | -| MONDO:0861804 | hypotonia-cystinuria syndrome | GARD:16998 | MONDO:equivalentTo | Hypotonia-cystinuria syndrome | | | -| MONDO:0861805 | 2p21 microdeletion syndrome | GARD:16999 | MONDO:equivalentTo | 2p21 microdeletion syndrome | | | -| MONDO:0861806 | arachnoid cyst | GARD:17 | MONDO:equivalentTo | Arachnoid cyst | | | -| MONDO:0861807 | action myoclonus-renal failure syndrome | GARD:17000 | MONDO:equivalentTo | Action myoclonus-renal failure syndrome | | | -| MONDO:0861808 | benign familial mesial temporal lobe epilepsy | GARD:17001 | MONDO:equivalentTo | Benign familial mesial temporal lobe epilepsy | | | -| MONDO:0861809 | rolandic epilepsy-speech dyspraxia syndrome | GARD:17002 | MONDO:equivalentTo | Rolandic epilepsy-speech dyspraxia syndrome | | | -| MONDO:0861810 | rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | GARD:17003 | MONDO:equivalentTo | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | | | -| MONDO:0861811 | peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disease | GARD:17004 | MONDO:equivalentTo | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | | | -| MONDO:0861812 | x-linked intellectual disability, nascimento type | GARD:17005 | MONDO:equivalentTo | X-linked intellectual disability, Nascimento type | | | -| MONDO:0861813 | x-linked cerebral-cerebellar-coloboma syndrome | GARD:17006 | MONDO:equivalentTo | X-linked cerebral-cerebellar-coloboma syndrome | | | -| MONDO:0861814 | x-linked dominant chondrodysplasia, chassaing-lacombe type | GARD:17007 | MONDO:equivalentTo | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | | | -| MONDO:0861815 | x-linked intellectual disability, van esch type | GARD:17008 | MONDO:equivalentTo | X-linked intellectual disability, Van Esch type | | | -| MONDO:0861816 | x-linked intellectual disability-craniofacioskeletal syndrome | GARD:17009 | MONDO:equivalentTo | X-linked intellectual disability-craniofacioskeletal syndrome | | | -| MONDO:0861817 | hyperekplexia-epilepsy syndrome | GARD:17010 | MONDO:equivalentTo | Hyperekplexia-epilepsy syndrome | | | -| MONDO:0861818 | familial mesial temporal lobe epilepsy with febrile seizures | GARD:17011 | MONDO:equivalentTo | Familial mesial temporal lobe epilepsy with febrile seizures | | | -| MONDO:0861819 | multiple epiphyseal dysplasia, beighton type | GARD:17012 | MONDO:equivalentTo | Multiple epiphyseal dysplasia, Beighton type | | | -| MONDO:0861820 | multiple epiphyseal dysplasia, lowry type | GARD:17013 | MONDO:equivalentTo | Multiple epiphyseal dysplasia, Lowry type | | | -| MONDO:0861821 | multiple epiphyseal dysplasia, al-gazali type | GARD:17014 | MONDO:equivalentTo | Multiple epiphyseal dysplasia, Al-Gazali type | | | -| MONDO:0861822 | multiple epiphyseal dysplasia, with severe proximal femoral dysplasia | GARD:17015 | MONDO:equivalentTo | Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia | | | -| MONDO:0861823 | multiple epiphyseal dysplasia, with miniepiphyses | GARD:17016 | MONDO:equivalentTo | Multiple epiphyseal dysplasia, with miniepiphyses | | | -| MONDO:0861824 | brachydactyly-short stature-retinitis pigmentosa syndrome | GARD:17017 | MONDO:equivalentTo | Brachydactyly-short stature-retinitis pigmentosa syndrome | | | -| MONDO:0861825 | metaphyseal chondrodysplasia, kaitila type | GARD:17018 | MONDO:equivalentTo | Metaphyseal chondrodysplasia, Kaitila type | | | -| MONDO:0861826 | von willebrand disease type 1 | GARD:17019 | MONDO:equivalentTo | Von Willebrand disease type 1 | | | -| MONDO:0861827 | von willebrand disease type 2 | GARD:17020 | MONDO:equivalentTo | Von Willebrand disease type 2 | | | -| MONDO:0861828 | von willebrand disease type 2a | GARD:17021 | MONDO:equivalentTo | Von Willebrand disease type 2A | | | -| MONDO:0861829 | von willebrand disease type 2b | GARD:17022 | MONDO:equivalentTo | Von Willebrand disease type 2B | | | -| MONDO:0861830 | von willebrand disease type 2m | GARD:17023 | MONDO:equivalentTo | Von Willebrand disease type 2M | | | -| MONDO:0861831 | von willebrand disease type 2n | GARD:17024 | MONDO:equivalentTo | Von Willebrand disease type 2N | | | -| MONDO:0861832 | von willebrand disease type 3 | GARD:17025 | MONDO:equivalentTo | Von Willebrand disease type 3 | | | -| MONDO:0861833 | fastkd2-related infantile mitochondrial encephalomyopathy | GARD:17026 | MONDO:equivalentTo | FASTKD2-related infantile mitochondrial encephalomyopathy | | | -| MONDO:0861834 | isolated osteopoikilosis | GARD:17027 | MONDO:equivalentTo | Isolated osteopoikilosis | | | -| MONDO:0861835 | hot water reflex epilepsy | GARD:17028 | MONDO:equivalentTo | Hot water reflex epilepsy | | | -| MONDO:0861836 | reading seizures | GARD:17029 | MONDO:equivalentTo | Reading seizures | | | -| MONDO:0861837 | spondyloepimetaphyseal dysplasia-abnormal dentition syndrome | GARD:17030 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome | | | -| MONDO:0861838 | congenital neuronal ceroid lipofuscinosis | GARD:17031 | MONDO:equivalentTo | Congenital neuronal ceroid lipofuscinosis | | | -| MONDO:0861839 | late infantile neuronal ceroid lipofuscinosis | GARD:17032 | MONDO:equivalentTo | Late infantile neuronal ceroid lipofuscinosis | | | -| MONDO:0861840 | 46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency | GARD:17033 | MONDO:equivalentTo | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | | | -| MONDO:0861841 | 46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome | GARD:17034 | MONDO:equivalentTo | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | | | -| MONDO:0861842 | fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | GARD:17035 | MONDO:equivalentTo | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | | | -| MONDO:0861843 | hereditary cryohydrocytosis with reduced stomatin | GARD:17036 | MONDO:equivalentTo | Hereditary cryohydrocytosis with reduced stomatin | | | -| MONDO:0861844 | hereditary north american indian childhood cirrhosis | GARD:17037 | MONDO:equivalentTo | Hereditary North American Indian childhood cirrhosis | | | -| MONDO:0861845 | congenital enteropathy due to enteropeptidase deficiency | GARD:17038 | MONDO:equivalentTo | Congenital enteropathy due to enteropeptidase deficiency | | | -| MONDO:0861846 | seborrhea-like dermatitis with psoriasiform elements | GARD:17039 | MONDO:equivalentTo | Seborrhea-like dermatitis with psoriasiform elements | | | -| MONDO:0861847 | congenital deficiency in alpha-fetoprotein | GARD:17040 | MONDO:equivalentTo | Congenital deficiency in alpha-fetoprotein | | | -| MONDO:0861848 | autosomal thrombocytopenia with normal platelets | GARD:17041 | MONDO:equivalentTo | Autosomal thrombocytopenia with normal platelets | | | -| MONDO:0861849 | generalized basaloid follicular hamartoma syndrome | GARD:17042 | MONDO:equivalentTo | Generalized basaloid follicular hamartoma syndrome | | | -| MONDO:0861850 | myeloid/lymphoid neoplasm associated with fgfr1 rearrangement | GARD:17043 | MONDO:equivalentTo | Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement | | | -| MONDO:0861851 | clapo syndrome | GARD:17044 | MONDO:equivalentTo | CLAPO syndrome | | | -| MONDO:0861852 | cernunnos-xlf deficiency | GARD:17045 | MONDO:equivalentTo | Cernunnos-XLF deficiency | | | -| MONDO:0861853 | combined immunodeficiency due to cd3gamma deficiency | GARD:17046 | MONDO:equivalentTo | Combined immunodeficiency due to CD3gamma deficiency | | | -| MONDO:0861854 | susceptibility to respiratory infections associated with cd8alpha chain mutation | GARD:17047 | MONDO:equivalentTo | Susceptibility to respiratory infections associated with CD8alpha chain mutation | | | -| MONDO:0861855 | combined immunodeficiency due to crac channel dysfunction | GARD:17048 | MONDO:equivalentTo | Combined immunodeficiency due to CRAC channel dysfunction | | | -| MONDO:0861856 | immunodeficiency due to cd25 deficiency | GARD:17049 | MONDO:equivalentTo | Immunodeficiency due to CD25 deficiency | | | -| MONDO:0861857 | deafness-vitiligo-achalasia syndrome | GARD:1705 | MONDO:equivalentTo | Deafness-vitiligo-achalasia syndrome | | | -| MONDO:0861858 | immunodeficiency due to a late component of complement deficiency | GARD:17050 | MONDO:equivalentTo | Immunodeficiency due to a late component of complement deficiency | | | -| MONDO:0861859 | t-b+ severe combined immunodeficiency due to il-7ralpha deficiency | GARD:17051 | MONDO:equivalentTo | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | -| MONDO:0861860 | t-b+ severe combined immunodeficiency due to cd45 deficiency | GARD:17052 | MONDO:equivalentTo | T-B+ severe combined immunodeficiency due to CD45 deficiency | | | -| MONDO:0861861 | t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta | GARD:17053 | MONDO:equivalentTo | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | -| MONDO:0861862 | primary cd59 deficiency | GARD:17054 | MONDO:equivalentTo | Primary CD59 deficiency | | | -| MONDO:0861863 | recurrent neisseria infections due to factor d deficiency | GARD:17055 | MONDO:equivalentTo | Recurrent Neisseria infections due to factor D deficiency | | | -| MONDO:0861864 | severe hemophilia b | GARD:17056 | MONDO:equivalentTo | Severe hemophilia B | | | -| MONDO:0861865 | moderate hemophilia b | GARD:17057 | MONDO:equivalentTo | Moderate hemophilia B | | | -| MONDO:0861866 | mild hemophilia b | GARD:17058 | MONDO:equivalentTo | Mild hemophilia B | | | -| MONDO:0861867 | severe hemophilia a | GARD:17059 | MONDO:equivalentTo | Severe hemophilia A | | | -| MONDO:0861868 | moderate hemophilia a | GARD:17060 | MONDO:equivalentTo | Moderate hemophilia A | | | -| MONDO:0861869 | mild hemophilia a | GARD:17061 | MONDO:equivalentTo | Mild hemophilia A | | | -| MONDO:0861870 | muscle filaminopathy | GARD:17062 | MONDO:equivalentTo | Muscle filaminopathy | | | -| MONDO:0861871 | x-linked spastic paraplegia type 34 | GARD:17063 | MONDO:equivalentTo | X-linked spastic paraplegia type 34 | | | -| MONDO:0861872 | autosomal dominant spastic paraplegia type 37 | GARD:17064 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 37 | | | -| MONDO:0861873 | autosomal dominant spastic paraplegia type 38 | GARD:17065 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 38 | | | -| MONDO:0861874 | lissencephaly due to tuba1a mutation | GARD:17066 | MONDO:equivalentTo | Lissencephaly due to TUBA1A mutation | | | -| MONDO:0861875 | metabolic myopathy due to lactate transporter defect | GARD:17067 | MONDO:equivalentTo | Metabolic myopathy due to lactate transporter defect | | | -| MONDO:0861876 | short stature-delayed bone age due to thyroid hormone metabolism deficiency | GARD:17068 | MONDO:equivalentTo | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | -| MONDO:0861877 | cutis laxa-marfanoid syndrome | GARD:17069 | MONDO:equivalentTo | Cutis laxa-Marfanoid syndrome | | | -| MONDO:0861878 | blindness-scoliosis-arachnodactyly syndrome | GARD:17070 | MONDO:equivalentTo | Blindness-scoliosis-arachnodactyly syndrome | | | -| MONDO:0861879 | polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome | GARD:17071 | MONDO:equivalentTo | Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome | | | -| MONDO:0861880 | mednik syndrome | GARD:17072 | MONDO:equivalentTo | MEDNIK syndrome | | | -| MONDO:0861881 | autosomal dominant spastic paraplegia type 42 | GARD:17073 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 42 | | | -| MONDO:0861882 | prader-willi syndrome due to translocation | GARD:17074 | MONDO:equivalentTo | Prader-Willi syndrome due to translocation | | | -| MONDO:0861883 | prader-willi syndrome due to imprinting mutation | GARD:17075 | MONDO:equivalentTo | Prader-Willi syndrome due to imprinting mutation | | | -| MONDO:0861884 | bleeding disorder in hemophilia a carriers | GARD:17076 | MONDO:equivalentTo | Bleeding disorder in hemophilia A carriers | | | -| MONDO:0861885 | bleeding disorder in hemophilia b carriers | GARD:17077 | MONDO:equivalentTo | Bleeding disorder in hemophilia B carriers | | | -| MONDO:0861886 | moderate multiminicore disease with hand involvement | GARD:17078 | MONDO:equivalentTo | Moderate multiminicore disease with hand involvement | | | -| MONDO:0861887 | reticulate acropigmentation of kitamura | GARD:17079 | MONDO:equivalentTo | Reticulate acropigmentation of Kitamura | | | -| MONDO:0861888 | distal myopathy with anterior tibial onset | GARD:17080 | MONDO:equivalentTo | Distal myopathy with anterior tibial onset | | | -| MONDO:0861889 | x-linked myopathy with postural muscle atrophy | GARD:17081 | MONDO:equivalentTo | X-linked myopathy with postural muscle atrophy | | | -| MONDO:0861890 | brain calcification, rajab type | GARD:17082 | MONDO:equivalentTo | Brain calcification, Rajab type | | | -| MONDO:0861891 | obesity due to leptin receptor gene deficiency | GARD:17083 | MONDO:equivalentTo | Obesity due to leptin receptor gene deficiency | | | -| MONDO:0861892 | hyper-igm syndrome with susceptibility to opportunistic infections | GARD:17084 | MONDO:equivalentTo | Hyper-IgM syndrome with susceptibility to opportunistic infections | | | -| MONDO:0861893 | hyper-igm syndrome without susceptibility to opportunistic infections | GARD:17085 | MONDO:equivalentTo | Hyper-IgM syndrome without susceptibility to opportunistic infections | | | -| MONDO:0861894 | recurrent infections associated with rare immunoglobulin isotypes deficiency | GARD:17086 | MONDO:equivalentTo | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | -| MONDO:0861895 | neutrophil immunodeficiency syndrome | GARD:17087 | MONDO:equivalentTo | Neutrophil immunodeficiency syndrome | | | -| MONDO:0861896 | familial isolated hypoparathyroidism due to impaired pth secretion | GARD:17088 | MONDO:equivalentTo | Familial isolated hypoparathyroidism due to impaired PTH secretion | | | -| MONDO:0861897 | familial angiolipomatosis | GARD:17089 | MONDO:equivalentTo | Familial angiolipomatosis | | | -| MONDO:0861898 | hereditary hypercarotenemia and vitamin a deficiency | GARD:17090 | MONDO:equivalentTo | Hereditary hypercarotenemia and vitamin A deficiency | | | -| MONDO:0861899 | isolated cleft lip | GARD:17091 | MONDO:equivalentTo | Isolated cleft lip | | | -| MONDO:0861900 | cleft lip/palate | GARD:17092 | MONDO:equivalentTo | Cleft lip/palate | | | -| MONDO:0861901 | familial clubfoot with or without associated lower limb anomalies | GARD:17093 | MONDO:equivalentTo | Familial clubfoot with or without associated lower limb anomalies | | | -| MONDO:0861902 | endocrine-cerebro-osteodysplasia syndrome | GARD:17094 | MONDO:equivalentTo | Endocrine-cerebro-osteodysplasia syndrome | | | -| MONDO:0861903 | pancreatic insufficiency-anemia-hyperostosis syndrome | GARD:17095 | MONDO:equivalentTo | Pancreatic insufficiency-anemia-hyperostosis syndrome | | | -| MONDO:0861904 | muscular dystrophy, selcen type | GARD:17096 | MONDO:equivalentTo | Muscular dystrophy, Selcen type | | | -| MONDO:0861905 | thiamine-responsive encephalopathy | GARD:17097 | MONDO:equivalentTo | Thiamine-responsive encephalopathy | | | -| MONDO:0861906 | immunodeficiency with factor i anomaly | GARD:17098 | MONDO:equivalentTo | Immunodeficiency with factor I anomaly | | | -| MONDO:0861907 | immunodeficiency with factor h anomaly | GARD:17099 | MONDO:equivalentTo | Immunodeficiency with factor H anomaly | | | -| MONDO:0861908 | gonadoblastoma | GARD:17100 | MONDO:equivalentTo | Gonadoblastoma | | | -| MONDO:0861909 | autosomal recessive lower motor neuron disease with childhood onset | GARD:17101 | MONDO:equivalentTo | Autosomal recessive lower motor neuron disease with childhood onset | | | -| MONDO:0861910 | autosomal dominant adult-onset proximal spinal muscular atrophy | GARD:17102 | MONDO:equivalentTo | Autosomal dominant adult-onset proximal spinal muscular atrophy | | | -| MONDO:0861911 | severe neonatal-onset encephalopathy with microcephaly | GARD:17103 | MONDO:equivalentTo | Severe neonatal-onset encephalopathy with microcephaly | | | -| MONDO:0861912 | autosomal dominant rhegmatogenous retinal detachment | GARD:17104 | MONDO:equivalentTo | Autosomal dominant rhegmatogenous retinal detachment | | | -| MONDO:0861913 | extraskeletal myxoid chondrosarcoma | GARD:17105 | MONDO:equivalentTo | Extraskeletal myxoid chondrosarcoma | | | -| MONDO:0861914 | idiopathic copper-associated cirrhosis | GARD:17106 | MONDO:equivalentTo | Idiopathic copper-associated cirrhosis | | | -| MONDO:0861915 | episodic ataxia type 6 | GARD:17107 | MONDO:equivalentTo | Episodic ataxia type 6 | | | -| MONDO:0861916 | episodic ataxia type 7 | GARD:17108 | MONDO:equivalentTo | Episodic ataxia type 7 | | | -| MONDO:0861917 | inherited congenital spastic tetraplegia | GARD:17109 | MONDO:equivalentTo | Inherited congenital spastic tetraplegia | | | -| MONDO:0861918 | lethal polymalformative syndrome, boissel type | GARD:17110 | MONDO:equivalentTo | Lethal polymalformative syndrome, Boissel type | | | -| MONDO:0861919 | congenital lethal myopathy, compton-north type | GARD:17111 | MONDO:equivalentTo | Congenital lethal myopathy, Compton-North type | | | -| MONDO:0861920 | macrocephaly-intellectual disability-autism syndrome | GARD:17112 | MONDO:equivalentTo | Macrocephaly-intellectual disability-autism syndrome | | | -| MONDO:0861921 | episodic ataxia type 5 | GARD:17113 | MONDO:equivalentTo | Episodic ataxia type 5 | | | -| MONDO:0861922 | classic pantothenate kinase-associated neurodegeneration | GARD:17114 | MONDO:equivalentTo | Classic pantothenate kinase-associated neurodegeneration | | | -| MONDO:0861923 | atypical pantothenate kinase-associated neurodegeneration | GARD:17115 | MONDO:equivalentTo | Atypical pantothenate kinase-associated neurodegeneration | | | -| MONDO:0861924 | microcephaly-facio-cardio-skeletal syndrome, hadziselimovic type | GARD:17116 | MONDO:equivalentTo | Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type | | | -| MONDO:0861925 | isolated congenital digital clubbing | GARD:17117 | MONDO:equivalentTo | Isolated congenital digital clubbing | | | -| MONDO:0861926 | mucopolysaccharidosis type 2, severe form | GARD:17118 | MONDO:equivalentTo | Mucopolysaccharidosis type 2, severe form | | | -| MONDO:0861927 | mucopolysaccharidosis type 2, attenuated form | GARD:17119 | MONDO:equivalentTo | Mucopolysaccharidosis type 2, attenuated form | | | -| MONDO:0861928 | rin2 syndrome | GARD:17120 | MONDO:equivalentTo | RIN2 syndrome | | | -| MONDO:0861929 | 17q21.31 microduplication syndrome | GARD:17121 | MONDO:equivalentTo | 17q21.31 microduplication syndrome | | | -| MONDO:0861930 | 17p13.3 microduplication syndrome | GARD:17122 | MONDO:equivalentTo | 17p13.3 microduplication syndrome | | | -| MONDO:0861931 | progressive polyneuropathy with bilateral striatal necrosis | GARD:17123 | MONDO:equivalentTo | Progressive polyneuropathy with bilateral striatal necrosis | | | -| MONDO:0861932 | hereditary hypotrichosis with recurrent skin vesicles | GARD:17124 | MONDO:equivalentTo | Hereditary hypotrichosis with recurrent skin vesicles | | | -| MONDO:0861933 | hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency | GARD:17125 | MONDO:equivalentTo | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | | | -| MONDO:0861934 | neonatal acute respiratory distress due to sp-b deficiency | GARD:17126 | MONDO:equivalentTo | Neonatal acute respiratory distress due to SP-B deficiency | | | -| MONDO:0861935 | chronic respiratory distress with surfactant metabolism deficiency | GARD:17127 | MONDO:equivalentTo | Chronic respiratory distress with surfactant metabolism deficiency | | | -| MONDO:0861936 | sensorineural deafness with dilated cardiomyopathy | GARD:17128 | MONDO:equivalentTo | Sensorineural deafness with dilated cardiomyopathy | | | -| MONDO:0861937 | familial isolated arrhythmogenic right ventricular dysplasia | GARD:17129 | MONDO:equivalentTo | Familial isolated arrhythmogenic right ventricular dysplasia | | | -| MONDO:0861938 | xeroderma pigmentosum-cockayne syndrome complex | GARD:17130 | MONDO:equivalentTo | Xeroderma pigmentosum-Cockayne syndrome complex | | | -| MONDO:0861939 | semilobar holoprosencephaly | GARD:17131 | MONDO:equivalentTo | Semilobar holoprosencephaly | | | -| MONDO:0861940 | bleeding diathesis due to thromboxane synthesis deficiency | GARD:17132 | MONDO:equivalentTo | Bleeding diathesis due to thromboxane synthesis deficiency | | | -| MONDO:0861941 | laron syndrome with immunodeficiency | GARD:17133 | MONDO:equivalentTo | Laron syndrome with immunodeficiency | | | -| MONDO:0861942 | rothmund-thomson syndrome type 1 | GARD:17134 | MONDO:equivalentTo | Rothmund-Thomson syndrome type 1 | | | -| MONDO:0861943 | rothmund-thomson syndrome type 2 | GARD:17135 | MONDO:equivalentTo | Rothmund-Thomson syndrome type 2 | | | -| MONDO:0861944 | hereditary sclerosing poikiloderma, weary type | GARD:17136 | MONDO:equivalentTo | Hereditary sclerosing poikiloderma, Weary type | | | -| MONDO:0861945 | hemifacial spasm | GARD:17137 | MONDO:equivalentTo | Hemifacial spasm | | | -| MONDO:0861946 | fowler vasculopaty | GARD:17138 | MONDO:equivalentTo | Fowler vasculopaty | | | -| MONDO:0861947 | combined immunodeficiency with faciooculoskeletal anomalies | GARD:17139 | MONDO:equivalentTo | Combined immunodeficiency with faciooculoskeletal anomalies | | | -| MONDO:0861948 | cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | GARD:17140 | MONDO:equivalentTo | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | | | -| MONDO:0861949 | familial infantile bilateral striatal necrosis | GARD:17141 | MONDO:equivalentTo | Familial infantile bilateral striatal necrosis | | | -| MONDO:0861950 | hereditary breast cancer | GARD:17142 | MONDO:equivalentTo | Hereditary breast cancer | | | -| MONDO:0861951 | autosomal recessive optic atrophy, opa7 type | GARD:17143 | MONDO:equivalentTo | Autosomal recessive optic atrophy, OPA7 type | | | -| MONDO:0861952 | severe combined immunodeficiency due to coro1a deficiency | GARD:17144 | MONDO:equivalentTo | Severe combined immunodeficiency due to CORO1A deficiency | | | -| MONDO:0861953 | progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | GARD:17145 | MONDO:equivalentTo | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | | | -| MONDO:0861954 | autosomal dominant striatal neurodegeneration | GARD:17146 | MONDO:equivalentTo | Autosomal dominant striatal neurodegeneration | | | -| MONDO:0861955 | autosomal dominant charcot-marie-tooth disease type 2m | GARD:17147 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2M | | | -| MONDO:0861956 | patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome | GARD:17148 | MONDO:equivalentTo | Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome | | | -| MONDO:0861957 | carnitine palmitoyl transferase ii deficiency, myopathic form | GARD:17149 | MONDO:equivalentTo | Carnitine palmitoyl transferase II deficiency, myopathic form | | | -| MONDO:0861958 | carnitine palmitoyl transferase ii deficiency, severe infantile form | GARD:17150 | MONDO:equivalentTo | Carnitine palmitoyl transferase II deficiency, severe infantile form | | | -| MONDO:0861959 | carnitine palmitoyl transferase ii deficiency, neonatal form | GARD:17151 | MONDO:equivalentTo | Carnitine palmitoyl transferase II deficiency, neonatal form | | | -| MONDO:0861960 | cln8 disease | GARD:17152 | MONDO:equivalentTo | CLN8 disease | | | -| MONDO:0861961 | charcot-marie-tooth disease type 2b5 | GARD:17153 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 2B5 | | | -| MONDO:0861962 | spondylo-megaepiphyseal-metaphyseal dysplasia | GARD:17154 | MONDO:equivalentTo | Spondylo-megaepiphyseal-metaphyseal dysplasia | | | -| MONDO:0861963 | isolated agammaglobulinemia | GARD:17155 | MONDO:equivalentTo | Isolated agammaglobulinemia | | | -| MONDO:0861964 | ehlers-danlos/osteogenesis imperfecta syndrome | GARD:17156 | MONDO:equivalentTo | Ehlers-Danlos/osteogenesis imperfecta syndrome | | | -| MONDO:0861965 | erythema palmare hereditarium | GARD:17157 | MONDO:equivalentTo | Erythema palmare hereditarium | | | -| MONDO:0861966 | familial generalized lentiginosis | GARD:17158 | MONDO:equivalentTo | Familial generalized lentiginosis | | | -| MONDO:0861967 | familial rhabdoid tumor | GARD:17159 | MONDO:equivalentTo | Familial rhabdoid tumor | | | -| MONDO:0861968 | beckwith-wiedemann syndrome due to cdkn1c mutation | GARD:17160 | MONDO:equivalentTo | Beckwith-Wiedemann syndrome due to CDKN1C mutation | | | -| MONDO:0861969 | familial cerebral saccular aneurysm | GARD:17161 | MONDO:equivalentTo | Familial cerebral saccular aneurysm | | | -| MONDO:0861970 | beta-thalassemia major | GARD:17162 | MONDO:equivalentTo | Beta-thalassemia major | | | -| MONDO:0861971 | beta-thalassemia intermedia | GARD:17163 | MONDO:equivalentTo | Beta-thalassemia intermedia | | | -| MONDO:0861972 | dominant beta-thalassemia | GARD:17164 | MONDO:equivalentTo | Dominant beta-thalassemia | | | -| MONDO:0861973 | delta-beta-thalassemia | GARD:17165 | MONDO:equivalentTo | Delta-beta-thalassemia | | | -| MONDO:0861974 | beta-thalassemia-x-linked thrombocytopenia syndrome | GARD:17166 | MONDO:equivalentTo | Beta-thalassemia-X-linked thrombocytopenia syndrome | | | -| MONDO:0861975 | alpha-thalassemia-myelodysplastic syndrome | GARD:17167 | MONDO:equivalentTo | Alpha-thalassemia-myelodysplastic syndrome | | | -| MONDO:0861976 | hermansky-pudlak syndrome due to bloc-3 deficiency | GARD:17168 | MONDO:equivalentTo | Hermansky-Pudlak syndrome due to BLOC-3 deficiency | | | -| MONDO:0861977 | hermansky-pudlak syndrome due to bloc-2 deficiency | GARD:17169 | MONDO:equivalentTo | Hermansky-Pudlak syndrome due to BLOC-2 deficiency | | | -| MONDO:0861978 | hermansky-pudlak syndrome due to bloc-1 deficiency | GARD:17170 | MONDO:equivalentTo | Hermansky-Pudlak syndrome due to BLOC-1 deficiency | | | -| MONDO:0861979 | severe x-linked mitochondrial encephalomyopathy | GARD:17171 | MONDO:equivalentTo | Severe X-linked mitochondrial encephalomyopathy | | | -| MONDO:0861980 | 15q11q13 microduplication syndrome | GARD:17172 | MONDO:equivalentTo | 15q11q13 microduplication syndrome | | | -| MONDO:0861981 | familial hypercholanemia | GARD:17173 | MONDO:equivalentTo | Familial hypercholanemia | | | -| MONDO:0861982 | combined immunodeficiency due to cd27 deficiency | GARD:17174 | MONDO:equivalentTo | Combined immunodeficiency due to CD27 deficiency | | | -| MONDO:0861983 | atypical hypotonia-cystinuria syndrome | GARD:17175 | MONDO:equivalentTo | Atypical hypotonia-cystinuria syndrome | | | -| MONDO:0861984 | chuvash erythrocytosis | GARD:17176 | MONDO:equivalentTo | Chuvash erythrocytosis | | | -| MONDO:0861985 | familial clubfoot due to 17q23.1q23.2 microduplication | GARD:17177 | MONDO:equivalentTo | Familial clubfoot due to 17q23.1q23.2 microduplication | | | -| MONDO:0861986 | beckwith-wiedemann syndrome due to nsd1 mutation | GARD:17178 | MONDO:equivalentTo | Beckwith-Wiedemann syndrome due to NSD1 mutation | | | -| MONDO:0861987 | isolated thyrotropin-releasing hormone deficiency | GARD:17179 | MONDO:equivalentTo | Isolated thyrotropin-releasing hormone deficiency | | | -| MONDO:0861988 | mammary-digital-nail syndrome | GARD:17180 | MONDO:equivalentTo | Mammary-digital-nail syndrome | | | -| MONDO:0861989 | 4q21 microdeletion syndrome | GARD:17181 | MONDO:equivalentTo | 4q21 microdeletion syndrome | | | -| MONDO:0861990 | classic progressive supranuclear palsy syndrome | GARD:17182 | MONDO:equivalentTo | Classic progressive supranuclear palsy syndrome | | | -| MONDO:0861991 | progressive supranuclear palsy-parkinsonism syndrome | GARD:17183 | MONDO:equivalentTo | Progressive supranuclear palsy-parkinsonism syndrome | | | -| MONDO:0861992 | nijmegen breakage syndrome-like disorder | GARD:17184 | MONDO:equivalentTo | Nijmegen breakage syndrome-like disorder | | | -| MONDO:0861993 | dimethylglycine dehydrogenase deficiency | GARD:17185 | MONDO:equivalentTo | Dimethylglycine dehydrogenase deficiency | | | -| MONDO:0861994 | dominant hypophosphatemia with nephrolithiasis or osteoporosis | GARD:17186 | MONDO:equivalentTo | Dominant hypophosphatemia with nephrolithiasis or osteoporosis | | | -| MONDO:0861995 | progressive cerebello-cerebral atrophy | GARD:17187 | MONDO:equivalentTo | Progressive cerebello-cerebral atrophy | | | -| MONDO:0861996 | hyperphosphatasia-intellectual disability syndrome | GARD:17188 | MONDO:equivalentTo | Hyperphosphatasia-intellectual disability syndrome | | | -| MONDO:0861997 | autosomal dominant secondary polycythemia | GARD:17189 | MONDO:equivalentTo | Autosomal dominant secondary polycythemia | | | -| MONDO:0861998 | primary ciliary dyskinesia-retinitis pigmentosa syndrome | GARD:17190 | MONDO:equivalentTo | Primary ciliary dyskinesia-retinitis pigmentosa syndrome | | | -| MONDO:0861999 | perinatal lethal hypophosphatasia | GARD:17191 | MONDO:equivalentTo | Perinatal lethal hypophosphatasia | | | -| MONDO:0862000 | infantile hypophosphatasia | GARD:17192 | MONDO:equivalentTo | Infantile hypophosphatasia | | | -| MONDO:0862001 | adult hypophosphatasia | GARD:17193 | MONDO:equivalentTo | Adult hypophosphatasia | | | -| MONDO:0862002 | odontohypophosphatasia | GARD:17194 | MONDO:equivalentTo | Odontohypophosphatasia | | | -| MONDO:0862003 | müllerian aplasia and hyperandrogenism | GARD:17195 | MONDO:equivalentTo | Müllerian aplasia and hyperandrogenism | | | -| MONDO:0862004 | juvenile cataract-microcornea-renal glucosuria syndrome | GARD:17196 | MONDO:equivalentTo | Juvenile cataract-microcornea-renal glucosuria syndrome | | | -| MONDO:0862005 | apc-related attenuated familial adenomatous polyposis | GARD:17197 | MONDO:equivalentTo | APC-related attenuated familial adenomatous polyposis | | | -| MONDO:0862006 | ectodermal dysplasia-syndactyly syndrome | GARD:17198 | MONDO:equivalentTo | Ectodermal dysplasia-syndactyly syndrome | | | -| MONDO:0862007 | ectodermal dysplasia-cutaneous syndactyly syndrome | GARD:17199 | MONDO:equivalentTo | Ectodermal dysplasia-cutaneous syndactyly syndrome | | | -| MONDO:0862008 | macrocephaly-short stature-paraplegia syndrome | GARD:172 | MONDO:equivalentTo | Macrocephaly-short stature-paraplegia syndrome | | | -| MONDO:0862009 | occult macular dystrophy | GARD:17200 | MONDO:equivalentTo | Occult macular dystrophy | | | -| MONDO:0862010 | nlrp12-associated hereditary periodic fever syndrome | GARD:17201 | MONDO:equivalentTo | NLRP12-associated hereditary periodic fever syndrome | | | -| MONDO:0862011 | familial hypodysfibrinogenemia | GARD:17202 | MONDO:equivalentTo | Familial hypodysfibrinogenemia | | | -| MONDO:0862012 | autosomal recessive stickler syndrome | GARD:17203 | MONDO:equivalentTo | Autosomal recessive Stickler syndrome | | | -| MONDO:0862013 | satb2-associated syndrome due to a chromosomal rearrangement | GARD:17204 | MONDO:equivalentTo | SATB2-associated syndrome due to a chromosomal rearrangement | | | -| MONDO:0862014 | microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome | GARD:17205 | MONDO:equivalentTo | Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome | | | -| MONDO:0862015 | autosomal dominant spastic ataxia type 1 | GARD:17206 | MONDO:equivalentTo | Autosomal dominant spastic ataxia type 1 | | | -| MONDO:0862016 | parietal foramina with clavicular hypoplasia | GARD:17207 | MONDO:equivalentTo | Parietal foramina with clavicular hypoplasia | | | -| MONDO:0862017 | pigmented paravenous retinochoroidal atrophy | GARD:17208 | MONDO:equivalentTo | Pigmented paravenous retinochoroidal atrophy | | | -| MONDO:0862018 | ataxia-telangiectasia-like disorder | GARD:17209 | MONDO:equivalentTo | Ataxia-telangiectasia-like disorder | | | -| MONDO:0862019 | ck syndrome | GARD:17210 | MONDO:equivalentTo | CK syndrome | | | -| MONDO:0862020 | 46,xy partial gonadal dysgenesis | GARD:17211 | MONDO:equivalentTo | 46,XY partial gonadal dysgenesis | | | -| MONDO:0862021 | distal arthrogryposis type 10 | GARD:17212 | MONDO:equivalentTo | Distal arthrogryposis type 10 | | | -| MONDO:0862022 | hyperzincemia and hypercalprotectinemia | GARD:17213 | MONDO:equivalentTo | Hyperzincemia and hypercalprotectinemia | | | -| MONDO:0862023 | medulloblastoma with extensive nodularity | GARD:17214 | MONDO:equivalentTo | Medulloblastoma with extensive nodularity | | | -| MONDO:0862024 | desmoplastic/nodular medulloblastoma | GARD:17215 | MONDO:equivalentTo | Desmoplastic/nodular medulloblastoma | | | -| MONDO:0862025 | classic medulloblastoma | GARD:17216 | MONDO:equivalentTo | Classic medulloblastoma | | | -| MONDO:0862026 | constitutional mismatch repair deficiency syndrome | GARD:17217 | MONDO:equivalentTo | Constitutional mismatch repair deficiency syndrome | | | -| MONDO:0862027 | distal 7q11.23 microdeletion syndrome | GARD:17218 | MONDO:equivalentTo | Distal 7q11.23 microdeletion syndrome | | | -| MONDO:0862028 | kagami-ogata syndrome | GARD:17219 | MONDO:equivalentTo | Kagami-Ogata syndrome | | | -| MONDO:0862029 | erythrokeratoderma ''en cocardes'' | GARD:1722 | MONDO:equivalentTo | Erythrokeratoderma ''en cocardes'' | | | -| MONDO:0862030 | temple syndrome due to paternal 14q32.2 microdeletion | GARD:17220 | MONDO:equivalentTo | Temple syndrome due to paternal 14q32.2 microdeletion | | | -| MONDO:0862031 | kagami-ogata syndrome due to maternal 14q32.2 microdeletion | GARD:17221 | MONDO:equivalentTo | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | -| MONDO:0862032 | temple syndrome due to paternal 14q32.2 hypomethylation | GARD:17222 | MONDO:equivalentTo | Temple syndrome due to paternal 14q32.2 hypomethylation | | | -| MONDO:0862033 | kagami-ogata syndrome due to maternal 14q32.2 hypermethylation | GARD:17223 | MONDO:equivalentTo | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | | | -| MONDO:0862034 | complete hydatidiform mole | GARD:17224 | MONDO:equivalentTo | Complete hydatidiform mole | | | -| MONDO:0862035 | mitochondrial dna depletion syndrome, encephalomyopathic form | GARD:17225 | MONDO:equivalentTo | Mitochondrial DNA depletion syndrome, encephalomyopathic form | | | -| MONDO:0862036 | lethal infantile mitochondrial myopathy | GARD:17226 | MONDO:equivalentTo | Lethal infantile mitochondrial myopathy | | | -| MONDO:0862037 | mitochondrial myopathy with reversible cytochrome c oxidase deficiency | GARD:17227 | MONDO:equivalentTo | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | -| MONDO:0862038 | mitochondrial dna depletion syndrome, myopathic form | GARD:17228 | MONDO:equivalentTo | Mitochondrial DNA depletion syndrome, myopathic form | | | -| MONDO:0862039 | spinocerebellar ataxia with epilepsy | GARD:17229 | MONDO:equivalentTo | Spinocerebellar ataxia with epilepsy | | | -| MONDO:0862040 | deafness-encephaloneuropathy-obesity-valvulopathy syndrome | GARD:17230 | MONDO:equivalentTo | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | | | -| MONDO:0862041 | renal tubulopathy-encephalopathy-liver failure syndrome | GARD:17231 | MONDO:equivalentTo | Renal tubulopathy-encephalopathy-liver failure syndrome | | | -| MONDO:0862042 | combined oxidative phosphorylation defect type 2 | GARD:17232 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 2 | | | -| MONDO:0862043 | combined oxidative phosphorylation defect type 4 | GARD:17233 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 4 | | | -| MONDO:0862044 | combined oxidative phosphorylation defect type 7 | GARD:17234 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 7 | | | -| MONDO:0862045 | adult-onset autosomal recessive sideroblastic anemia | GARD:17235 | MONDO:equivalentTo | Adult-onset autosomal recessive sideroblastic anemia | | | -| MONDO:0862046 | pyruvate dehydrogenase e1-beta deficiency | GARD:17236 | MONDO:equivalentTo | Pyruvate dehydrogenase E1-beta deficiency | | | -| MONDO:0862047 | pyruvate dehydrogenase e3-binding protein deficiency | GARD:17237 | MONDO:equivalentTo | Pyruvate dehydrogenase E3-binding protein deficiency | | | -| MONDO:0862048 | leigh syndrome with leukodystrophy | GARD:17238 | MONDO:equivalentTo | Leigh syndrome with leukodystrophy | | | -| MONDO:0862049 | leigh syndrome with nephrotic syndrome | GARD:17239 | MONDO:equivalentTo | Leigh syndrome with nephrotic syndrome | | | -| MONDO:0862050 | autosomal recessive sideroblastic anemia | GARD:17240 | MONDO:equivalentTo | Autosomal recessive sideroblastic anemia | | | -| MONDO:0862051 | 14q11.2 microdeletion syndrome | GARD:17241 | MONDO:equivalentTo | 14q11.2 microdeletion syndrome | | | -| MONDO:0862052 | 15q14 microdeletion syndrome | GARD:17242 | MONDO:equivalentTo | 15q14 microdeletion syndrome | | | -| MONDO:0862053 | 16p11.2p12.2 microdeletion syndrome | GARD:17243 | MONDO:equivalentTo | 16p11.2p12.2 microdeletion syndrome | | | -| MONDO:0862054 | distal 16p11.2 microdeletion syndrome | GARD:17244 | MONDO:equivalentTo | Distal 16p11.2 microdeletion syndrome | | | -| MONDO:0862055 | distal 22q11.2 microdeletion syndrome | GARD:17245 | MONDO:equivalentTo | Distal 22q11.2 microdeletion syndrome | | | -| MONDO:0862056 | xp21 deletion syndrome | GARD:17246 | MONDO:equivalentTo | Xp21 deletion syndrome | | | -| MONDO:0862057 | xq27.3q28 duplication syndrome | GARD:17247 | MONDO:equivalentTo | Xq27.3q28 duplication syndrome | | | -| MONDO:0862058 | mowat-wilson syndrome due to monosomy 2q22 | GARD:17248 | MONDO:equivalentTo | Mowat-Wilson syndrome due to monosomy 2q22 | | | -| MONDO:0862059 | mowat-wilson syndrome due to a zeb2 point mutation | GARD:17249 | MONDO:equivalentTo | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | -| MONDO:0862060 | alagille syndrome due to 20p12 microdeletion | GARD:17250 | MONDO:equivalentTo | Alagille syndrome due to 20p12 microdeletion | | | -| MONDO:0862061 | alagille syndrome due to a jag1 point mutation | GARD:17251 | MONDO:equivalentTo | Alagille syndrome due to a JAG1 point mutation | | | -| MONDO:0862062 | alagille syndrome due to a notch2 point mutation | GARD:17252 | MONDO:equivalentTo | Alagille syndrome due to a NOTCH2 point mutation | | | -| MONDO:0862063 | kleefstra syndrome due to a point mutation | GARD:17253 | MONDO:equivalentTo | Kleefstra syndrome due to a point mutation | | | -| MONDO:0862064 | glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | GARD:17254 | MONDO:equivalentTo | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | | | -| MONDO:0862065 | mrcs syndrome | GARD:17255 | MONDO:equivalentTo | MRCS syndrome | | | -| MONDO:0862066 | hyperinsulinism due to insr deficiency | GARD:17256 | MONDO:equivalentTo | Hyperinsulinism due to INSR deficiency | | | -| MONDO:0862067 | acute necrotizing encephalopathy of childhood | GARD:17257 | MONDO:equivalentTo | Acute necrotizing encephalopathy of childhood | | | -| MONDO:0862068 | peeling skin syndrome type a | GARD:17258 | MONDO:equivalentTo | Peeling skin syndrome type A | | | -| MONDO:0862069 | peeling skin syndrome type b | GARD:17259 | MONDO:equivalentTo | Peeling skin syndrome type B | | | -| MONDO:0862070 | familial multiple meningioma | GARD:17260 | MONDO:equivalentTo | Familial multiple meningioma | | | -| MONDO:0862071 | glycogen storage disease due to liver phosphorylase kinase deficiency | GARD:17261 | MONDO:equivalentTo | Glycogen storage disease due to liver phosphorylase kinase deficiency | | | -| MONDO:0862072 | ras-associated autoimmune leukoproliferative disease | GARD:17262 | MONDO:equivalentTo | RAS-associated autoimmune leukoproliferative disease | | | -| MONDO:0862073 | classic maple syrup urine disease | GARD:17263 | MONDO:equivalentTo | Classic maple syrup urine disease | | | -| MONDO:0862074 | intermediate maple syrup urine disease | GARD:17264 | MONDO:equivalentTo | Intermediate maple syrup urine disease | | | -| MONDO:0862075 | intermittent maple syrup urine disease | GARD:17265 | MONDO:equivalentTo | Intermittent maple syrup urine disease | | | -| MONDO:0862076 | thiamine-responsive maple syrup urine disease | GARD:17266 | MONDO:equivalentTo | Thiamine-responsive maple syrup urine disease | | | -| MONDO:0862077 | hereditary thrombocytopenia with normal platelets | GARD:17267 | MONDO:equivalentTo | Hereditary thrombocytopenia with normal platelets | | | -| MONDO:0862078 | neural tube closure defect | GARD:17268 | MONDO:equivalentTo | Neural tube closure defect | | | -| MONDO:0862079 | bilateral polymicrogyria | GARD:17269 | MONDO:equivalentTo | Bilateral polymicrogyria | | | -| MONDO:0862080 | delayed membranous cranial ossification | GARD:1727 | MONDO:equivalentTo | Delayed membranous cranial ossification | | | -| MONDO:0862081 | isolated focal cortical dysplasia type iia | GARD:17270 | MONDO:equivalentTo | Isolated focal cortical dysplasia type IIa | | | -| MONDO:0862082 | isolated focal cortical dysplasia type iib | GARD:17271 | MONDO:equivalentTo | Isolated focal cortical dysplasia type IIb | | | -| MONDO:0862083 | congenital non-communicating hydrocephalus | GARD:17272 | MONDO:equivalentTo | Congenital non-communicating hydrocephalus | | | -| MONDO:0862084 | frontotemporal dementia with motor neuron disease | GARD:17273 | MONDO:equivalentTo | Frontotemporal dementia with motor neuron disease | | | -| MONDO:0862085 | benign epithelial tumor of salivary glands | GARD:17274 | MONDO:equivalentTo | Benign epithelial tumor of salivary glands | | | -| MONDO:0862086 | multiple endocrine neoplasia type 4 | GARD:17275 | MONDO:equivalentTo | Multiple endocrine neoplasia type 4 | | | -| MONDO:0862087 | spinocerebellar ataxia type 32 | GARD:17276 | MONDO:equivalentTo | Spinocerebellar ataxia type 32 | | | -| MONDO:0862088 | non-syndromic male infertility due to sperm motility disorder | GARD:17277 | MONDO:equivalentTo | Non-syndromic male infertility due to sperm motility disorder | | | -| MONDO:0862089 | familial multinodular goiter | GARD:17278 | MONDO:equivalentTo | Familial multinodular goiter | | | -| MONDO:0862090 | hyperbiliverdinemia | GARD:17279 | MONDO:equivalentTo | Hyperbiliverdinemia | | | -| MONDO:0862091 | 10q22.3q23.3 microdeletion syndrome | GARD:17280 | MONDO:equivalentTo | 10q22.3q23.3 microdeletion syndrome | | | -| MONDO:0862092 | ogden syndrome | GARD:17281 | MONDO:equivalentTo | Ogden syndrome | | | -| MONDO:0862093 | lower motor neuron syndrome with late-adult onset | GARD:17282 | MONDO:equivalentTo | Lower motor neuron syndrome with late-adult onset | | | -| MONDO:0862094 | autosomal dominant hyperinsulinism due to sur1 deficiency | GARD:17283 | MONDO:equivalentTo | Autosomal dominant hyperinsulinism due to SUR1 deficiency | | | -| MONDO:0862095 | autosomal dominant hyperinsulinism due to kir6.2 deficiency | GARD:17284 | MONDO:equivalentTo | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | | | -| MONDO:0862096 | diazoxide-resistant focal hyperinsulinism due to sur1 deficiency | GARD:17285 | MONDO:equivalentTo | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | | | -| MONDO:0862097 | diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency | GARD:17286 | MONDO:equivalentTo | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | | | -| MONDO:0862098 | hereditary neutrophilia | GARD:17287 | MONDO:equivalentTo | Hereditary neutrophilia | | | -| MONDO:0862099 | severe combined immunodeficiency due to lck deficiency | GARD:17288 | MONDO:equivalentTo | Severe combined immunodeficiency due to LCK deficiency | | | -| MONDO:0862100 | septopreoptic holoprosencephaly | GARD:17289 | MONDO:equivalentTo | Septopreoptic holoprosencephaly | | | -| MONDO:0862101 | microform holoprosencephaly | GARD:17290 | MONDO:equivalentTo | Microform holoprosencephaly | | | -| MONDO:0862102 | pelizaeus-merzbacher disease, connatal form | GARD:17291 | MONDO:equivalentTo | Pelizaeus-Merzbacher disease, connatal form | | | -| MONDO:0862103 | null syndrome | GARD:17292 | MONDO:equivalentTo | Null syndrome | | | -| MONDO:0862104 | pelizaeus-merzbacher-like disease due to gjc2 mutation | GARD:17293 | MONDO:equivalentTo | Pelizaeus-Merzbacher-like disease due to GJC2 mutation | | | -| MONDO:0862105 | pelizaeus-merzbacher-like disease due to hspd1 mutation | GARD:17294 | MONDO:equivalentTo | Pelizaeus-Merzbacher-like disease due to HSPD1 mutation | | | -| MONDO:0862106 | familial steroid-resistant nephrotic syndrome with sensorineural deafness | GARD:17295 | MONDO:equivalentTo | Familial steroid-resistant nephrotic syndrome with sensorineural deafness | | | -| MONDO:0862107 | fatal infantile hypertonic myofibrillar myopathy | GARD:17296 | MONDO:equivalentTo | Fatal infantile hypertonic myofibrillar myopathy | | | -| MONDO:0862108 | hemoglobinopathy toms river | GARD:17297 | MONDO:equivalentTo | Hemoglobinopathy Toms River | | | -| MONDO:0862109 | familial progressive hyper- and hypopigmentation | GARD:17298 | MONDO:equivalentTo | Familial progressive hyper- and hypopigmentation | | | -| MONDO:0862110 | occipital pachygyria and polymicrogyria | GARD:17299 | MONDO:equivalentTo | Occipital pachygyria and polymicrogyria | | | -| MONDO:0862111 | acrodysostosis with multiple hormone resistance | GARD:17300 | MONDO:equivalentTo | Acrodysostosis with multiple hormone resistance | | | -| MONDO:0862112 | moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | GARD:17301 | MONDO:equivalentTo | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | | | -| MONDO:0862113 | syndromic recessive x-linked ichthyosis | GARD:17302 | MONDO:equivalentTo | Syndromic recessive X-linked ichthyosis | | | -| MONDO:0862114 | self-improving collodion baby | GARD:17303 | MONDO:equivalentTo | Self-improving collodion baby | | | -| MONDO:0862115 | annular epidermolytic ichthyosis | GARD:17304 | MONDO:equivalentTo | Annular epidermolytic ichthyosis | | | -| MONDO:0862116 | congenital reticular ichthyosiform erythroderma | GARD:17305 | MONDO:equivalentTo | Congenital reticular ichthyosiform erythroderma | | | -| MONDO:0862117 | keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | GARD:17306 | MONDO:equivalentTo | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | | | -| MONDO:0862118 | inherited creutzfeldt-jakob disease | GARD:17307 | MONDO:equivalentTo | Inherited Creutzfeldt-Jakob disease | | | -| MONDO:0862119 | larsen-like syndrome, b3gat3 type | GARD:17308 | MONDO:equivalentTo | Larsen-like syndrome, B3GAT3 type | | | -| MONDO:0862120 | craniosynostosis-dental anomalies | GARD:17309 | MONDO:equivalentTo | Craniosynostosis-dental anomalies | | | -| MONDO:0862121 | 8q21.11 microdeletion syndrome | GARD:17310 | MONDO:equivalentTo | 8q21.11 microdeletion syndrome | | | -| MONDO:0862122 | facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | GARD:17311 | MONDO:equivalentTo | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | | | -| MONDO:0862123 | autosomal recessive cerebellar ataxia-psychomotor delay syndrome | GARD:17312 | MONDO:equivalentTo | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome | | | -| MONDO:0862124 | autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency | GARD:17313 | MONDO:equivalentTo | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency | | | -| MONDO:0862125 | adult-onset autosomal recessive cerebellar ataxia | GARD:17314 | MONDO:equivalentTo | Adult-onset autosomal recessive cerebellar ataxia | | | -| MONDO:0862126 | pontocerebellar hypoplasia type 7 | GARD:17315 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 7 | | | -| MONDO:0862127 | glycerol kinase deficiency, juvenile form | GARD:17316 | MONDO:equivalentTo | Glycerol kinase deficiency, juvenile form | | | -| MONDO:0862128 | glycerol kinase deficiency, adult form | GARD:17317 | MONDO:equivalentTo | Glycerol kinase deficiency, adult form | | | -| MONDO:0862129 | marfan syndrome type 2 | GARD:17318 | MONDO:equivalentTo | Marfan syndrome type 2 | | | -| MONDO:0862130 | hypocalcemic vitamin d-dependent rickets | GARD:17319 | MONDO:equivalentTo | Hypocalcemic vitamin D-dependent rickets | | | -| MONDO:0862131 | autosomal recessive hypophosphatemic rickets | GARD:17320 | MONDO:equivalentTo | Autosomal recessive hypophosphatemic rickets | | | -| MONDO:0862132 | hypermethioninemia encephalopathy due to adenosine kinase deficiency | GARD:17321 | MONDO:equivalentTo | Hypermethioninemia encephalopathy due to adenosine kinase deficiency | | | -| MONDO:0862133 | developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency | GARD:17322 | MONDO:equivalentTo | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency | | | -| MONDO:0862134 | familial vesicoureteral reflux | GARD:17323 | MONDO:equivalentTo | Familial vesicoureteral reflux | | | -| MONDO:0862135 | early-onset myopathy with fatal cardiomyopathy | GARD:17324 | MONDO:equivalentTo | Early-onset myopathy with fatal cardiomyopathy | | | -| MONDO:0862136 | myosclerosis | GARD:17325 | MONDO:equivalentTo | Myosclerosis | | | -| MONDO:0862137 | intellectual disability-alacrima-achalasia syndrome | GARD:17326 | MONDO:equivalentTo | Intellectual disability-alacrima-achalasia syndrome | | | -| MONDO:0862138 | congenital cataract microcornea with corneal opacity | GARD:17327 | MONDO:equivalentTo | Congenital cataract microcornea with corneal opacity | | | -| MONDO:0862139 | dysmorphism-conductive hearing loss-heart defect syndrome | GARD:17328 | MONDO:equivalentTo | Dysmorphism-conductive hearing loss-heart defect syndrome | | | -| MONDO:0862140 | exfoliative ichthyosis | GARD:17329 | MONDO:equivalentTo | Exfoliative ichthyosis | | | -| MONDO:0862141 | glutathione synthetase deficiency with 5-oxoprolinuria | GARD:17330 | MONDO:equivalentTo | Glutathione synthetase deficiency with 5-oxoprolinuria | | | -| MONDO:0862142 | glutathione synthetase deficiency without 5-oxoprolinuria | GARD:17331 | MONDO:equivalentTo | Glutathione synthetase deficiency without 5-oxoprolinuria | | | -| MONDO:0862143 | neonatal glycine encephalopathy | GARD:17332 | MONDO:equivalentTo | Neonatal glycine encephalopathy | | | -| MONDO:0862144 | infantile glycine encephalopathy | GARD:17333 | MONDO:equivalentTo | Infantile glycine encephalopathy | | | -| MONDO:0862145 | atypical glycine encephalopathy | GARD:17334 | MONDO:equivalentTo | Atypical glycine encephalopathy | | | -| MONDO:0862146 | vitamin b12-unresponsive methylmalonic acidemia type mut0 | GARD:17335 | MONDO:equivalentTo | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | | | -| MONDO:0862147 | familial clubfoot due to 5q31 microdeletion | GARD:17336 | MONDO:equivalentTo | Familial clubfoot due to 5q31 microdeletion | | | -| MONDO:0862148 | familial clubfoot due to pitx1 point mutation | GARD:17337 | MONDO:equivalentTo | Familial clubfoot due to PITX1 point mutation | | | -| MONDO:0862149 | epithelial recurrent erosion dystrophy | GARD:17338 | MONDO:equivalentTo | Epithelial recurrent erosion dystrophy | | | -| MONDO:0862150 | x-linked endothelial corneal dystrophy | GARD:17339 | MONDO:equivalentTo | X-linked endothelial corneal dystrophy | | | -| MONDO:0862151 | pycr1-related de barsy syndrome | GARD:17340 | MONDO:equivalentTo | PYCR1-related De Barsy syndrome | | | -| MONDO:0862152 | blepharophimosis-intellectual disability syndrome, mkb type | GARD:17341 | MONDO:equivalentTo | Blepharophimosis-intellectual disability syndrome, MKB type | | | -| MONDO:0862153 | blepharophimosis-intellectual disability syndrome, verloes type | GARD:17342 | MONDO:equivalentTo | Blepharophimosis-intellectual disability syndrome, Verloes type | | | -| MONDO:0862154 | mitf-related melanoma and renal cell carcinoma predisposition syndrome | GARD:17343 | MONDO:equivalentTo | MITF-related melanoma and renal cell carcinoma predisposition syndrome | | | -| MONDO:0862155 | congenital dyserythropoietic anemia type iv | GARD:17344 | MONDO:equivalentTo | Congenital dyserythropoietic anemia type IV | | | -| MONDO:0862156 | familial isolated arrhythmogenic ventricular dysplasia, left dominant form | GARD:17345 | MONDO:equivalentTo | Familial isolated arrhythmogenic ventricular dysplasia, left dominant form | | | -| MONDO:0862157 | familial isolated arrhythmogenic ventricular dysplasia, biventricular form | GARD:17346 | MONDO:equivalentTo | Familial isolated arrhythmogenic ventricular dysplasia, biventricular form | | | -| MONDO:0862158 | familial isolated arrhythmogenic ventricular dysplasia, right dominant form | GARD:17347 | MONDO:equivalentTo | Familial isolated arrhythmogenic ventricular dysplasia, right dominant form | | | -| MONDO:0862159 | lethal occipital encephalocele-skeletal dysplasia syndrome | GARD:17348 | MONDO:equivalentTo | Lethal occipital encephalocele-skeletal dysplasia syndrome | | | -| MONDO:0862160 | edict syndrome | GARD:17349 | MONDO:equivalentTo | EDICT syndrome | | | -| MONDO:0862161 | distal xq28 microduplication syndrome | GARD:17350 | MONDO:equivalentTo | Distal Xq28 microduplication syndrome | | | -| MONDO:0862162 | hypertelorism-preauricular sinus-punctual pits-deafness syndrome | GARD:17351 | MONDO:equivalentTo | Hypertelorism-preauricular sinus-punctual pits-deafness syndrome | | | -| MONDO:0862163 | hypoinsulinemic hypoglycemia and body hemihypertrophy | GARD:17352 | MONDO:equivalentTo | Hypoinsulinemic hypoglycemia and body hemihypertrophy | | | -| MONDO:0862164 | deficiency in anterior pituitary function-variable immunodeficiency syndrome | GARD:17353 | MONDO:equivalentTo | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | -| MONDO:0862165 | microcephaly-capillary malformation syndrome | GARD:17354 | MONDO:equivalentTo | Microcephaly-capillary malformation syndrome | | | -| MONDO:0862166 | neonatal inflammatory skin and bowel disease | GARD:17355 | MONDO:equivalentTo | Neonatal inflammatory skin and bowel disease | | | -| MONDO:0862167 | renal-hepatic-pancreatic dysplasia | GARD:17356 | MONDO:equivalentTo | Renal-hepatic-pancreatic dysplasia | | | -| MONDO:0862168 | zygodactyly type 1 | GARD:17357 | MONDO:equivalentTo | Zygodactyly type 1 | | | -| MONDO:0862169 | synpolydactyly type 1 | GARD:17358 | MONDO:equivalentTo | Synpolydactyly type 1 | | | -| MONDO:0862170 | synpolydactyly type 2 | GARD:17359 | MONDO:equivalentTo | Synpolydactyly type 2 | | | -| MONDO:0862171 | synpolydactyly type 3 | GARD:17360 | MONDO:equivalentTo | Synpolydactyly type 3 | | | -| MONDO:0862172 | kyphoscoliotic ehlers-danlos syndrome due to fkbp22 deficiency | GARD:17361 | MONDO:equivalentTo | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | | | -| MONDO:0862173 | connective tissue disorder due to lysyl hydroxylase-3 deficiency | GARD:17362 | MONDO:equivalentTo | Connective tissue disorder due to lysyl hydroxylase-3 deficiency | | | -| MONDO:0862174 | transient infantile hypertriglyceridemia and hepatosteatosis | GARD:17363 | MONDO:equivalentTo | Transient infantile hypertriglyceridemia and hepatosteatosis | | | -| MONDO:0862175 | severe congenital hypochromic anemia with ringed sideroblasts | GARD:17364 | MONDO:equivalentTo | Severe congenital hypochromic anemia with ringed sideroblasts | | | -| MONDO:0862176 | congenital cataract-hearing loss-severe developmental delay syndrome | GARD:17365 | MONDO:equivalentTo | Congenital cataract-hearing loss-severe developmental delay syndrome | | | -| MONDO:0862177 | persistent polyclonal b-cell lymphocytosis | GARD:17366 | MONDO:equivalentTo | Persistent polyclonal B-cell lymphocytosis | | | -| MONDO:0862178 | nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome | GARD:17367 | MONDO:equivalentTo | Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome | | | -| MONDO:0862179 | autosomal systemic lupus erythematosus | GARD:17368 | MONDO:equivalentTo | Autosomal systemic lupus erythematosus | | | -| MONDO:0862180 | plcg2-associated antibody deficiency and immune dysregulation | GARD:17369 | MONDO:equivalentTo | PLCG2-associated antibody deficiency and immune dysregulation | | | -| MONDO:0862181 | x-linked acrogigantism | GARD:17370 | MONDO:equivalentTo | X-linked acrogigantism | | | -| MONDO:0862182 | progeroid and marfanoid aspect-lipodystrophy syndrome | GARD:17371 | MONDO:equivalentTo | Progeroid and marfanoid aspect-lipodystrophy syndrome | | | -| MONDO:0862183 | pseudohypoaldosteronism type 2d | GARD:17372 | MONDO:equivalentTo | Pseudohypoaldosteronism type 2D | | | -| MONDO:0862184 | pseudohypoaldosteronism type 2e | GARD:17373 | MONDO:equivalentTo | Pseudohypoaldosteronism type 2E | | | -| MONDO:0862185 | autosomal recessive infantile hypercalcemia | GARD:17374 | MONDO:equivalentTo | Autosomal recessive infantile hypercalcemia | | | -| MONDO:0862186 | polymicrogyria due to tubb2b mutation | GARD:17375 | MONDO:equivalentTo | Polymicrogyria due to TUBB2B mutation | | | -| MONDO:0862187 | oligodontia-cancer predisposition syndrome | GARD:17376 | MONDO:equivalentTo | Oligodontia-cancer predisposition syndrome | | | -| MONDO:0862188 | interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome | GARD:17377 | MONDO:equivalentTo | Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome | | | -| MONDO:0862189 | autosomal recessive spastic paraplegia type 48 | GARD:17378 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 48 | | | -| MONDO:0862190 | congenital hereditary facial paralysis-variable hearing loss syndrome | GARD:17379 | MONDO:equivalentTo | Congenital hereditary facial paralysis-variable hearing loss syndrome | | | -| MONDO:0862191 | porencephaly-microcephaly-bilateral congenital cataract syndrome | GARD:17380 | MONDO:equivalentTo | Porencephaly-microcephaly-bilateral congenital cataract syndrome | | | -| MONDO:0862192 | primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | GARD:17381 | MONDO:equivalentTo | Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | | | -| MONDO:0862193 | sodium channelopathy-related small fiber neuropathy | GARD:17382 | MONDO:equivalentTo | Sodium channelopathy-related small fiber neuropathy | | | -| MONDO:0862194 | primary dystonia, dyt21 type | GARD:17383 | MONDO:equivalentTo | Primary dystonia, DYT21 type | | | -| MONDO:0862195 | hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome | GARD:17384 | MONDO:equivalentTo | Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome | | | -| MONDO:0862196 | methylcobalamin deficiency type cbldv1 | GARD:17385 | MONDO:equivalentTo | Methylcobalamin deficiency type cblDv1 | | | -| MONDO:0862197 | sulfite oxidase deficiency due to molybdenum cofactor deficiency type a | GARD:17386 | MONDO:equivalentTo | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | | | -| MONDO:0862198 | sulfite oxidase deficiency due to molybdenum cofactor deficiency type b | GARD:17387 | MONDO:equivalentTo | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | | | -| MONDO:0862199 | sulfite oxidase deficiency due to molybdenum cofactor deficiency type c | GARD:17388 | MONDO:equivalentTo | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | | | -| MONDO:0862200 | autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | GARD:17389 | MONDO:equivalentTo | Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | | | -| MONDO:0862201 | methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency | GARD:17390 | MONDO:equivalentTo | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | | | -| MONDO:0862202 | vitamin b12-responsive methylmalonic acidemia, type cbldv2 | GARD:17391 | MONDO:equivalentTo | Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | | | -| MONDO:0862203 | erythrocyte galactose epimerase deficiency | GARD:17392 | MONDO:equivalentTo | Erythrocyte galactose epimerase deficiency | | | -| MONDO:0862204 | generalized galactose epimerase deficiency | GARD:17393 | MONDO:equivalentTo | Generalized galactose epimerase deficiency | | | -| MONDO:0862205 | glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form | GARD:17394 | MONDO:equivalentTo | Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form | | | -| MONDO:0862206 | glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | GARD:17395 | MONDO:equivalentTo | Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | | | -| MONDO:0862207 | glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form | GARD:17396 | MONDO:equivalentTo | Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form | | | -| MONDO:0862208 | glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | GARD:17397 | MONDO:equivalentTo | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | | | -| MONDO:0862209 | glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form | GARD:17398 | MONDO:equivalentTo | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form | | | -| MONDO:0862210 | glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | GARD:17399 | MONDO:equivalentTo | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | | | -| MONDO:0862211 | glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form | GARD:17400 | MONDO:equivalentTo | Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form | | | -| MONDO:0862212 | pancreatic triacylglycerol lipase deficiency | GARD:17401 | MONDO:equivalentTo | Pancreatic triacylglycerol lipase deficiency | | | -| MONDO:0862213 | pancreatic colipase deficiency | GARD:17402 | MONDO:equivalentTo | Pancreatic colipase deficiency | | | -| MONDO:0862214 | combined pancreatic lipase-colipase deficiency | GARD:17403 | MONDO:equivalentTo | Combined pancreatic lipase-colipase deficiency | | | -| MONDO:0862215 | sandhoff disease, juvenile form | GARD:17404 | MONDO:equivalentTo | Sandhoff disease, juvenile form | | | -| MONDO:0862216 | sandhoff disease, adult form | GARD:17405 | MONDO:equivalentTo | Sandhoff disease, adult form | | | -| MONDO:0862217 | gm2 gangliosidosis, ab variant | GARD:17406 | MONDO:equivalentTo | GM2 gangliosidosis, AB variant | | | -| MONDO:0862218 | alpha-mannosidosis, infantile form | GARD:17407 | MONDO:equivalentTo | Alpha-mannosidosis, infantile form | | | -| MONDO:0862219 | alpha-mannosidosis, adult form | GARD:17408 | MONDO:equivalentTo | Alpha-mannosidosis, adult form | | | -| MONDO:0862220 | early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | GARD:17409 | MONDO:equivalentTo | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | | | -| MONDO:0862221 | jawad syndrome | GARD:17410 | MONDO:equivalentTo | Jawad syndrome | | | -| MONDO:0862222 | retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome | GARD:17411 | MONDO:equivalentTo | Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome | | | -| MONDO:0862223 | coats plus syndrome | GARD:17412 | MONDO:equivalentTo | Coats plus syndrome | | | -| MONDO:0862224 | familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome | GARD:17413 | MONDO:equivalentTo | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome | | | -| MONDO:0862225 | 12p12.1 microdeletion syndrome | GARD:17414 | MONDO:equivalentTo | 12p12.1 microdeletion syndrome | | | -| MONDO:0862226 | developmental and speech delay due to sox5 deficiency | GARD:17415 | MONDO:equivalentTo | Developmental and speech delay due to SOX5 deficiency | | | -| MONDO:0862227 | gastric adenocarcinoma and proximal polyposis of the stomach | GARD:17416 | MONDO:equivalentTo | Gastric adenocarcinoma and proximal polyposis of the stomach | | | -| MONDO:0862228 | chronic infantile diarrhea due to guanylate cyclase 2c overactivity | GARD:17417 | MONDO:equivalentTo | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity | | | -| MONDO:0862229 | intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency | GARD:17418 | MONDO:equivalentTo | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | | | -| MONDO:0862230 | short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | GARD:17419 | MONDO:equivalentTo | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | | | -| MONDO:0862231 | autosomal dominant aplasia and myelodysplasia | GARD:17420 | MONDO:equivalentTo | Autosomal dominant aplasia and myelodysplasia | | | -| MONDO:0862232 | young adult-onset distal hereditary motor neuropathy | GARD:17421 | MONDO:equivalentTo | Young adult-onset distal hereditary motor neuropathy | | | -| MONDO:0862233 | facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome | GARD:17422 | MONDO:equivalentTo | Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome | | | -| MONDO:0862234 | 15q overgrowth syndrome | GARD:17423 | MONDO:equivalentTo | 15q overgrowth syndrome | | | -| MONDO:0862235 | distal tetrasomy 15q | GARD:17424 | MONDO:equivalentTo | Distal tetrasomy 15q | | | -| MONDO:0862236 | autosomal recessive spastic ataxia with leukoencephalopathy | GARD:17425 | MONDO:equivalentTo | Autosomal recessive spastic ataxia with leukoencephalopathy | | | -| MONDO:0862237 | cln11 disease | GARD:17426 | MONDO:equivalentTo | CLN11 disease | | | -| MONDO:0862238 | atp13a2-related juvenile neuronal ceroid lipofuscinosis | GARD:17427 | MONDO:equivalentTo | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | | | -| MONDO:0862239 | mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency | GARD:17428 | MONDO:equivalentTo | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | | | -| MONDO:0862240 | non-progressive cerebellar ataxia with intellectual disability | GARD:17429 | MONDO:equivalentTo | Non-progressive cerebellar ataxia with intellectual disability | | | -| MONDO:0862241 | combined immunodeficiency due to stk4 deficiency | GARD:17430 | MONDO:equivalentTo | Combined immunodeficiency due to STK4 deficiency | | | -| MONDO:0862242 | primary systemic amyloidosis | GARD:17431 | MONDO:equivalentTo | Primary systemic amyloidosis | | | -| MONDO:0862243 | lethal arteriopathy syndrome due to fibulin-4 deficiency | GARD:17432 | MONDO:equivalentTo | Lethal arteriopathy syndrome due to fibulin-4 deficiency | | | -| MONDO:0862244 | atypical dentin dysplasia due to smoc2 deficiency | GARD:17433 | MONDO:equivalentTo | Atypical dentin dysplasia due to SMOC2 deficiency | | | -| MONDO:0862245 | shox-related short stature | GARD:17434 | MONDO:equivalentTo | SHOX-related short stature | | | -| MONDO:0862246 | short stature due to partial ghr deficiency | GARD:17435 | MONDO:equivalentTo | Short stature due to partial GHR deficiency | | | -| MONDO:0862247 | short stature due to ghsr deficiency | GARD:17436 | MONDO:equivalentTo | Short stature due to GHSR deficiency | | | -| MONDO:0862248 | severe canavan disease | GARD:17437 | MONDO:equivalentTo | Severe Canavan disease | | | -| MONDO:0862249 | mild canavan disease | GARD:17438 | MONDO:equivalentTo | Mild Canavan disease | | | -| MONDO:0862250 | x-linked non progressive cerebellar ataxia | GARD:17439 | MONDO:equivalentTo | X-linked non progressive cerebellar ataxia | | | -| MONDO:0862251 | cataract-congenital heart disease-neural tube defect syndrome | GARD:17440 | MONDO:equivalentTo | Cataract-congenital heart disease-neural tube defect syndrome | | | -| MONDO:0862252 | severe combined immunodeficiency due to dna-pkcs deficiency | GARD:17441 | MONDO:equivalentTo | Severe combined immunodeficiency due to DNA-PKcs deficiency | | | -| MONDO:0862253 | pancytopenia due to ikzf1 mutations | GARD:17442 | MONDO:equivalentTo | Pancytopenia due to IKZF1 mutations | | | -| MONDO:0862254 | congenital myopathy with internal nuclei and atypical cores | GARD:17443 | MONDO:equivalentTo | Congenital myopathy with internal nuclei and atypical cores | | | -| MONDO:0862255 | familial cortical myoclonus | GARD:17444 | MONDO:equivalentTo | Familial cortical myoclonus | | | -| MONDO:0862256 | autosomal recessive spastic paraplegia type 53 | GARD:17445 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 53 | | | -| MONDO:0862257 | mit family translocation renal cell carcinoma | GARD:17446 | MONDO:equivalentTo | MiT family translocation renal cell carcinoma | | | -| MONDO:0862258 | autosomal recessive myogenic arthrogryposis multiplex congenita | GARD:17447 | MONDO:equivalentTo | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | -| MONDO:0862259 | carney complex-trismus-pseudocamptodactyly syndrome | GARD:17448 | MONDO:equivalentTo | Carney complex-trismus-pseudocamptodactyly syndrome | | | -| MONDO:0862260 | inherited cancer-predisposing syndrome due to biallelic brca2 mutations | GARD:17449 | MONDO:equivalentTo | Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations | | | -| MONDO:0862261 | inherited acute myeloid leukemia | GARD:17450 | MONDO:equivalentTo | Inherited acute myeloid leukemia | | | -| MONDO:0862262 | acute myeloid leukemia with cebpa somatic mutations | GARD:17451 | MONDO:equivalentTo | Acute myeloid leukemia with CEBPA somatic mutations | | | -| MONDO:0862263 | combined oxidative phosphorylation defect type 8 | GARD:17452 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 8 | | | -| MONDO:0862264 | combined oxidative phosphorylation defect type 9 | GARD:17453 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 9 | | | -| MONDO:0862265 | combined oxidative phosphorylation defect type 13 | GARD:17454 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 13 | | | -| MONDO:0862266 | combined oxidative phosphorylation defect type 14 | GARD:17455 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 14 | | | -| MONDO:0862267 | combined oxidative phosphorylation defect type 15 | GARD:17456 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 15 | | | -| MONDO:0862268 | mendelian susceptibility to mycobacterial diseases due to complete ifngammar2 deficiency | GARD:17457 | MONDO:equivalentTo | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency | | | -| MONDO:0862269 | mendelian susceptibility to mycobacterial diseases due to complete isg15 deficiency | GARD:17458 | MONDO:equivalentTo | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | | | -| MONDO:0862270 | autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency | GARD:17459 | MONDO:equivalentTo | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | | | -| MONDO:0862271 | autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency | GARD:17460 | MONDO:equivalentTo | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | | | -| MONDO:0862272 | autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency | GARD:17461 | MONDO:equivalentTo | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | | | -| MONDO:0862273 | mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency | GARD:17462 | MONDO:equivalentTo | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | | | -| MONDO:0862274 | mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency | GARD:17463 | MONDO:equivalentTo | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | | | -| MONDO:0862275 | x-linked mendelian susceptibility to mycobacterial diseases | GARD:17464 | MONDO:equivalentTo | X-linked mendelian susceptibility to mycobacterial diseases | | | -| MONDO:0862276 | x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency | GARD:17465 | MONDO:equivalentTo | X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | | | -| MONDO:0862277 | amyloidosis cutis dyschromia | GARD:17466 | MONDO:equivalentTo | Amyloidosis cutis dyschromia | | | -| MONDO:0862278 | retinal macular dystrophy type 2 | GARD:17467 | MONDO:equivalentTo | Retinal macular dystrophy type 2 | | | -| MONDO:0862279 | alazami syndrome | GARD:17468 | MONDO:equivalentTo | Alazami syndrome | | | -| MONDO:0862280 | microcephalic primordial dwarfism, dauber type | GARD:17469 | MONDO:equivalentTo | Microcephalic primordial dwarfism, Dauber type | | | -| MONDO:0862281 | encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | GARD:17470 | MONDO:equivalentTo | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | | | -| MONDO:0862282 | autosomal dominant spastic paraplegia type 41 | GARD:17471 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 41 | | | -| MONDO:0862283 | autosomal dominant spastic paraplegia type 36 | GARD:17472 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 36 | | | -| MONDO:0862284 | autosomal recessive spastic paraplegia type 43 | GARD:17473 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 43 | | | -| MONDO:0862285 | autosomal recessive spastic paraplegia type 55 | GARD:17474 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 55 | | | -| MONDO:0862286 | autosomal recessive spastic paraplegia type 54 | GARD:17475 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 54 | | | -| MONDO:0862287 | autosomal recessive spastic paraplegia type 46 | GARD:17476 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 46 | | | -| MONDO:0862288 | autosomal recessive spastic paraplegia type 45 | GARD:17477 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 45 | | | -| MONDO:0862289 | autosomal recessive spastic paraplegia type 44 | GARD:17478 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 44 | | | -| MONDO:0862290 | spastic paraplegia-optic atrophy-neuropathy syndrome | GARD:17479 | MONDO:equivalentTo | Spastic paraplegia-optic atrophy-neuropathy syndrome | | | -| MONDO:0862291 | autosomal recessive spastic paraplegia type 56 | GARD:17480 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 56 | | | -| MONDO:0862292 | autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency | GARD:17481 | MONDO:equivalentTo | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | | | -| MONDO:0862293 | early-onset lafora body disease | GARD:17482 | MONDO:equivalentTo | Early-onset Lafora body disease | | | -| MONDO:0862294 | t-cell immunodeficiency with epidermodysplasia verruciformis | GARD:17483 | MONDO:equivalentTo | T-cell immunodeficiency with epidermodysplasia verruciformis | | | -| MONDO:0862295 | sinoatrial node dysfunction and deafness | GARD:17484 | MONDO:equivalentTo | Sinoatrial node dysfunction and deafness | | | -| MONDO:0862296 | x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | GARD:17485 | MONDO:equivalentTo | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | | | -| MONDO:0862297 | autoinflammation-plcg2-associated antibody deficiency-immune dysregulation | GARD:17486 | MONDO:equivalentTo | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | | | -| MONDO:0862298 | combined oxidative phosphorylation defect type 11 | GARD:17487 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 11 | | | -| MONDO:0862299 | pontocerebellar hypoplasia type 8 | GARD:17488 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 8 | | | -| MONDO:0862300 | abetal34v amyloidosis | GARD:17489 | MONDO:equivalentTo | ABetaL34V amyloidosis | | | -| MONDO:0862301 | abeta amyloidosis, iowa type | GARD:17490 | MONDO:equivalentTo | ABeta amyloidosis, Iowa type | | | -| MONDO:0862302 | abeta amyloidosis, italian type | GARD:17491 | MONDO:equivalentTo | ABeta amyloidosis, Italian type | | | -| MONDO:0862303 | abetaa21g amyloidosis | GARD:17492 | MONDO:equivalentTo | ABetaA21G amyloidosis | | | -| MONDO:0862304 | abeta amyloidosis, arctic type | GARD:17493 | MONDO:equivalentTo | ABeta amyloidosis, Arctic type | | | -| MONDO:0862305 | autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | GARD:17494 | MONDO:equivalentTo | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | | | -| MONDO:0862306 | tall stature-long halluces-multiple extra-epiphyses syndrome | GARD:17495 | MONDO:equivalentTo | Tall stature-long halluces-multiple extra-epiphyses syndrome | | | -| MONDO:0862307 | developmental delay with autism spectrum disorder and gait instability | GARD:17496 | MONDO:equivalentTo | Developmental delay with autism spectrum disorder and gait instability | | | -| MONDO:0862308 | autosomal dominant neovascular inflammatory vitreoretinopathy | GARD:17497 | MONDO:equivalentTo | Autosomal dominant neovascular inflammatory vitreoretinopathy | | | -| MONDO:0862309 | microcephalic primordial dwarfism due to znf335 deficiency | GARD:17498 | MONDO:equivalentTo | Microcephalic primordial dwarfism due to ZNF335 deficiency | | | -| MONDO:0862310 | x-linked central congenital hypothyroidism with late-onset testicular enlargement | GARD:17499 | MONDO:equivalentTo | X-linked central congenital hypothyroidism with late-onset testicular enlargement | | | -| MONDO:0862311 | free sialic acid storage disease, infantile form | GARD:175 | MONDO:equivalentTo | Free sialic acid storage disease, infantile form | | | -| MONDO:0862312 | congenital chronic diarrhea with protein-losing enteropathy | GARD:17500 | MONDO:equivalentTo | Congenital chronic diarrhea with protein-losing enteropathy | | | -| MONDO:0862313 | adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency | GARD:17501 | MONDO:equivalentTo | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | | | -| MONDO:0862314 | microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | GARD:17502 | MONDO:equivalentTo | Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | | | -| MONDO:0862315 | adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | GARD:17503 | MONDO:equivalentTo | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | -| MONDO:0862316 | lipoprotein glomerulopathy | GARD:17504 | MONDO:equivalentTo | Lipoprotein glomerulopathy | | | -| MONDO:0862317 | 5p13 microduplication syndrome | GARD:17505 | MONDO:equivalentTo | 5p13 microduplication syndrome | | | -| MONDO:0862318 | immunoglobulin-mediated membranoproliferative glomerulonephritis | GARD:17506 | MONDO:equivalentTo | Immunoglobulin-mediated membranoproliferative glomerulonephritis | | | -| MONDO:0862319 | c3 glomerulopathy | GARD:17507 | MONDO:equivalentTo | C3 glomerulopathy | | | -| MONDO:0862320 | generalized juvenile polyposis/juvenile polyposis coli | GARD:17508 | MONDO:equivalentTo | Generalized juvenile polyposis/juvenile polyposis coli | | | -| MONDO:0862321 | dnm1l-related encephalopathy due to mitochondrial and peroxisomal fission defect | GARD:17509 | MONDO:equivalentTo | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect | | | -| MONDO:0862322 | actinic prurigo | GARD:17510 | MONDO:equivalentTo | Actinic prurigo | | | -| MONDO:0862323 | autosomal recessive severe congenital neutropenia due to g6pc3 deficiency | GARD:17511 | MONDO:equivalentTo | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | | | -| MONDO:0862324 | immunodeficiency due to masp-2 deficiency | GARD:17512 | MONDO:equivalentTo | Immunodeficiency due to MASP-2 deficiency | | | -| MONDO:0862325 | immunodeficiency due to ficolin3 deficiency | GARD:17513 | MONDO:equivalentTo | Immunodeficiency due to ficolin3 deficiency | | | -| MONDO:0862326 | susceptibility to infection due to tyk2 deficiency | GARD:17514 | MONDO:equivalentTo | Susceptibility to infection due to TYK2 deficiency | | | -| MONDO:0862327 | congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | GARD:17515 | MONDO:equivalentTo | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | | | -| MONDO:0862328 | spectrin-associated autosomal recessive cerebellar ataxia | GARD:17516 | MONDO:equivalentTo | Spectrin-associated autosomal recessive cerebellar ataxia | | | -| MONDO:0862329 | progressive external ophthalmoplegia-myopathy-emaciation syndrome | GARD:17517 | MONDO:equivalentTo | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | | | -| MONDO:0862330 | dna2-related mitochondrial dna deletion syndrome | GARD:17518 | MONDO:equivalentTo | DNA2-related mitochondrial DNA deletion syndrome | | | -| MONDO:0862331 | ispd-related limb-girdle muscular dystrophy r20 | GARD:17519 | MONDO:equivalentTo | ISPD-related limb-girdle muscular dystrophy R20 | | | -| MONDO:0862332 | autism spectrum disorder due to auts2 deficiency | GARD:17520 | MONDO:equivalentTo | Autism spectrum disorder due to AUTS2 deficiency | | | -| MONDO:0862333 | familial infantile myoclonic epilepsy | GARD:17521 | MONDO:equivalentTo | Familial infantile myoclonic epilepsy | | | -| MONDO:0862334 | progressive myoclonic epilepsy with dystonia | GARD:17522 | MONDO:equivalentTo | Progressive myoclonic epilepsy with dystonia | | | -| MONDO:0862335 | early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | GARD:17523 | MONDO:equivalentTo | Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | | | -| MONDO:0862336 | hereditary benign intraepithelial dyskeratosis | GARD:17524 | MONDO:equivalentTo | Hereditary benign intraepithelial dyskeratosis | | | -| MONDO:0862337 | corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | GARD:17525 | MONDO:equivalentTo | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | | | -| MONDO:0862338 | cobblestone lissencephaly without muscular or ocular involvement | GARD:17526 | MONDO:equivalentTo | Cobblestone lissencephaly without muscular or ocular involvement | | | -| MONDO:0862339 | cln13 disease | GARD:17527 | MONDO:equivalentTo | CLN13 disease | | | -| MONDO:0862340 | facial dysmorphism-immunodeficiency-livedo-short stature syndrome | GARD:17528 | MONDO:equivalentTo | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | | | -| MONDO:0862341 | progressive retinal dystrophy due to retinol transport defect | GARD:17529 | MONDO:equivalentTo | Progressive retinal dystrophy due to retinol transport defect | | | -| MONDO:0862342 | temperature-sensitive oculocutaneous albinism type 1 | GARD:17530 | MONDO:equivalentTo | Temperature-sensitive oculocutaneous albinism type 1 | | | -| MONDO:0862343 | oculocutaneous albinism type 7 | GARD:17531 | MONDO:equivalentTo | Oculocutaneous albinism type 7 | | | -| MONDO:0862344 | epileptic encephalopathy with global cerebral demyelination | GARD:17532 | MONDO:equivalentTo | Epileptic encephalopathy with global cerebral demyelination | | | -| MONDO:0862345 | familial primary localized cutaneous amyloidosis | GARD:17533 | MONDO:equivalentTo | Familial primary localized cutaneous amyloidosis | | | -| MONDO:0862346 | rubinstein-taybi syndrome due to crebbp mutations | GARD:17534 | MONDO:equivalentTo | Rubinstein-Taybi syndrome due to CREBBP mutations | | | -| MONDO:0862347 | rubinstein-taybi syndrome due to ep300 haploinsufficiency | GARD:17535 | MONDO:equivalentTo | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | | | -| MONDO:0862348 | pyruvate carboxylase deficiency, infantile type | GARD:17536 | MONDO:equivalentTo | Pyruvate carboxylase deficiency, infantile type | | | -| MONDO:0862349 | pyruvate carboxylase deficiency, severe neonatal type | GARD:17537 | MONDO:equivalentTo | Pyruvate carboxylase deficiency, severe neonatal type | | | -| MONDO:0862350 | pyruvate carboxylase deficiency, benign type | GARD:17538 | MONDO:equivalentTo | Pyruvate carboxylase deficiency, benign type | | | -| MONDO:0862351 | congenital myasthenic syndromes with glycosylation defect | GARD:17539 | MONDO:equivalentTo | Congenital myasthenic syndromes with glycosylation defect | | | -| MONDO:0862352 | d,l-2-hydroxyglutaric aciduria | GARD:17540 | MONDO:equivalentTo | D,L-2-hydroxyglutaric aciduria | | | -| MONDO:0862353 | ank3-related intellectual disability-sleep disturbance syndrome | GARD:17541 | MONDO:equivalentTo | ANK3-related intellectual disability-sleep disturbance syndrome | | | -| MONDO:0862354 | 19p13.13 microdeletion syndrome | GARD:17542 | MONDO:equivalentTo | 19p13.13 microdeletion syndrome | | | -| MONDO:0862355 | hemolytic uremic syndrome with dgke deficiency | GARD:17543 | MONDO:equivalentTo | Hemolytic uremic syndrome with DGKE deficiency | | | -| MONDO:0862356 | hereditary retinoblastoma | GARD:17544 | MONDO:equivalentTo | Hereditary retinoblastoma | | | -| MONDO:0862357 | non-hereditary retinoblastoma | GARD:17545 | MONDO:equivalentTo | Non-hereditary retinoblastoma | | | -| MONDO:0862358 | autosomal recessive cutis laxa type 2, classic type | GARD:17546 | MONDO:equivalentTo | Autosomal recessive cutis laxa type 2, classic type | | | -| MONDO:0862359 | mandibulofacial dysostosis-macroblepharon-macrostomia syndrome | GARD:17547 | MONDO:equivalentTo | Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome | | | -| MONDO:0862360 | short ulna-dysmorphism-hypotonia-intellectual disability syndrome | GARD:17548 | MONDO:equivalentTo | Short ulna-dysmorphism-hypotonia-intellectual disability syndrome | | | -| MONDO:0862361 | severe combined immunodeficiency due to card11 deficiency | GARD:17549 | MONDO:equivalentTo | Severe combined immunodeficiency due to CARD11 deficiency | | | -| MONDO:0862362 | combined immunodeficiency due to il21r deficiency | GARD:17550 | MONDO:equivalentTo | Combined immunodeficiency due to IL21R deficiency | | | -| MONDO:0862363 | syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome | GARD:17551 | MONDO:equivalentTo | Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome | | | -| MONDO:0862364 | severe neurodegenerative syndrome with lipodystrophy | GARD:17552 | MONDO:equivalentTo | Severe neurodegenerative syndrome with lipodystrophy | | | -| MONDO:0862365 | fetal akinesia-cerebral and retinal hemorrhage syndrome | GARD:17553 | MONDO:equivalentTo | Fetal akinesia-cerebral and retinal hemorrhage syndrome | | | -| MONDO:0862366 | hypomyelination with brain stem and spinal cord involvement and leg spasticity | GARD:17554 | MONDO:equivalentTo | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | | | -| MONDO:0862367 | multiple mitochondrial dysfunctions syndrome type 3 | GARD:17555 | MONDO:equivalentTo | Multiple mitochondrial dysfunctions syndrome type 3 | | | -| MONDO:0862368 | autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | GARD:17556 | MONDO:equivalentTo | Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | | | -| MONDO:0862369 | autosomal recessive congenital cerebellar ataxia due to grid2 deficiency | GARD:17557 | MONDO:equivalentTo | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | | | -| MONDO:0862370 | thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome | GARD:17558 | MONDO:equivalentTo | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | | | -| MONDO:0862371 | autosomal dominant childhood-onset proximal spinal muscular atrophy | GARD:17559 | MONDO:equivalentTo | Autosomal dominant childhood-onset proximal spinal muscular atrophy | | | -| MONDO:0862372 | testicular teratoma | GARD:17560 | MONDO:equivalentTo | Testicular teratoma | | | -| MONDO:0862373 | non-seminomatous germ cell tumor of testis | GARD:17561 | MONDO:equivalentTo | Non-seminomatous germ cell tumor of testis | | | -| MONDO:0862374 | hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | GARD:17562 | MONDO:equivalentTo | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | | | -| MONDO:0862375 | intellectual disability-strabismus syndrome | GARD:17563 | MONDO:equivalentTo | Intellectual disability-strabismus syndrome | | | -| MONDO:0862376 | mitochondrial dna depletion syndrome, hepatocerebrorenal form | GARD:17564 | MONDO:equivalentTo | Mitochondrial DNA depletion syndrome, hepatocerebrorenal form | | | -| MONDO:0862377 | leukoencephalopathy with mild cerebellar ataxia and white matter edema | GARD:17565 | MONDO:equivalentTo | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | | | -| MONDO:0862378 | ctcf-related neurodevelopmental disorder | GARD:17566 | MONDO:equivalentTo | CTCF-related neurodevelopmental disorder | | | -| MONDO:0862379 | x-linked parkinsonism-spasticity syndrome | GARD:17567 | MONDO:equivalentTo | X-linked parkinsonism-spasticity syndrome | | | -| MONDO:0862380 | childhood-onset autosomal recessive myopathy with external ophthalmoplegia | GARD:17568 | MONDO:equivalentTo | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | | | -| MONDO:0862381 | hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | GARD:17569 | MONDO:equivalentTo | Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | | | -| MONDO:0862382 | neurofibromatosis type 1 due to nf1 mutation or intragenic deletion | GARD:17570 | MONDO:equivalentTo | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | | | -| MONDO:0862383 | craniofaciofrontodigital syndrome | GARD:17571 | MONDO:equivalentTo | Craniofaciofrontodigital syndrome | | | -| MONDO:0862384 | alexander disease type i | GARD:17572 | MONDO:equivalentTo | Alexander disease type I | | | -| MONDO:0862385 | alexander disease type ii | GARD:17573 | MONDO:equivalentTo | Alexander disease type II | | | -| MONDO:0862386 | x-linked dyserythropoietic anemia with abnormal platelets and neutropenia | GARD:17574 | MONDO:equivalentTo | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia | | | -| MONDO:0862387 | colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome | GARD:17575 | MONDO:equivalentTo | Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome | | | -| MONDO:0862388 | 17q21.31 microdeletion syndrome | GARD:17576 | MONDO:equivalentTo | 17q21.31 microdeletion syndrome | | | -| MONDO:0862389 | noonan syndrome-like disorder with juvenile myelomonocytic leukemia | GARD:17577 | MONDO:equivalentTo | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | | | -| MONDO:0862390 | charcot-marie-tooth disease type 4b3 | GARD:17578 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 4B3 | | | -| MONDO:0862391 | ichthyosis-short stature-brachydactyly-microspherophakia syndrome | GARD:17579 | MONDO:equivalentTo | Ichthyosis-short stature-brachydactyly-microspherophakia syndrome | | | -| MONDO:0862392 | non-immune hydrops fetalis | GARD:17580 | MONDO:equivalentTo | Non-immune hydrops fetalis | | | -| MONDO:0862393 | x-linked intellectual disability due to gria3 mutations | GARD:17581 | MONDO:equivalentTo | X-linked intellectual disability due to GRIA3 mutations | | | -| MONDO:0862394 | infantile epileptic-dyskinetic encephalopathy | GARD:17582 | MONDO:equivalentTo | Infantile epileptic-dyskinetic encephalopathy | | | -| MONDO:0862395 | intellectual disability-brachydactyly-pierre robin syndrome | GARD:17583 | MONDO:equivalentTo | Intellectual disability-brachydactyly-Pierre Robin syndrome | | | -| MONDO:0862396 | intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | GARD:17584 | MONDO:equivalentTo | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | -| MONDO:0862397 | congenital neutropenia-myelofibrosis-nephromegaly syndrome | GARD:17585 | MONDO:equivalentTo | Congenital neutropenia-myelofibrosis-nephromegaly syndrome | | | -| MONDO:0862398 | congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome | GARD:17586 | MONDO:equivalentTo | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | | | -| MONDO:0862399 | autosomal recessive intermediate charcot-marie-tooth disease type c | GARD:17587 | MONDO:equivalentTo | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C | | | -| MONDO:0862400 | developmental delay-facial dysmorphism syndrome due to med13l deficiency | GARD:17588 | MONDO:equivalentTo | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | | | -| MONDO:0862401 | combined oxidative phosphorylation defect type 17 | GARD:17589 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 17 | | | -| MONDO:0862402 | pontocerebellar hypoplasia type 9 | GARD:17590 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 9 | | | -| MONDO:0862403 | primary hyperaldosteronism-seizures-neurological abnormalities syndrome | GARD:17591 | MONDO:equivalentTo | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | | | -| MONDO:0862404 | severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | GARD:17592 | MONDO:equivalentTo | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | | | -| MONDO:0862405 | microcornea-myopic chorioretinal atrophy-telecanthus syndrome | GARD:17593 | MONDO:equivalentTo | Microcornea-myopic chorioretinal atrophy-telecanthus syndrome | | | -| MONDO:0862406 | severe dermatitis-multiple allergies-metabolic wasting syndrome | GARD:17594 | MONDO:equivalentTo | Severe dermatitis-multiple allergies-metabolic wasting syndrome | | | -| MONDO:0862407 | diffuse palmoplantar keratoderma with painful fissures | GARD:17595 | MONDO:equivalentTo | Diffuse palmoplantar keratoderma with painful fissures | | | -| MONDO:0862408 | focal palmoplantar keratoderma with joint keratoses | GARD:17596 | MONDO:equivalentTo | Focal palmoplantar keratoderma with joint keratoses | | | -| MONDO:0862409 | ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | GARD:17597 | MONDO:equivalentTo | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | | | -| MONDO:0862410 | oculocutaneous albinism type 5 | GARD:17598 | MONDO:equivalentTo | Oculocutaneous albinism type 5 | | | -| MONDO:0862411 | oculocutaneous albinism type 6 | GARD:17599 | MONDO:equivalentTo | Oculocutaneous albinism type 6 | | | -| MONDO:0862412 | macrophagic myofasciitis | GARD:176 | MONDO:equivalentTo | Macrophagic myofasciitis | | | -| MONDO:0862413 | extraskeletal ewing sarcoma | GARD:17600 | MONDO:equivalentTo | Extraskeletal Ewing sarcoma | | | -| MONDO:0862414 | peripheral primitive neuroectodermal tumor | GARD:17601 | MONDO:equivalentTo | Peripheral primitive neuroectodermal tumor | | | -| MONDO:0862415 | stt3a-cdg | GARD:17602 | MONDO:equivalentTo | STT3A-CDG | | | -| MONDO:0862416 | stt3b-cdg | GARD:17603 | MONDO:equivalentTo | STT3B-CDG | | | -| MONDO:0862417 | autism spectrum disorder-epilepsy-arthrogryposis syndrome | GARD:17604 | MONDO:equivalentTo | Autism spectrum disorder-epilepsy-arthrogryposis syndrome | | | -| MONDO:0862418 | congenital muscular dystrophy with cerebellar involvement | GARD:17605 | MONDO:equivalentTo | Congenital muscular dystrophy with cerebellar involvement | | | -| MONDO:0862419 | congenital muscular dystrophy with intellectual disability | GARD:17606 | MONDO:equivalentTo | Congenital muscular dystrophy with intellectual disability | | | -| MONDO:0862420 | congenital muscular dystrophy without intellectual disability | GARD:17607 | MONDO:equivalentTo | Congenital muscular dystrophy without intellectual disability | | | -| MONDO:0862421 | muscle-eye-brain disease with bilateral multicystic leucodystrophy | GARD:17608 | MONDO:equivalentTo | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | | | -| MONDO:0862422 | hypotonia-speech impairment-severe cognitive delay syndrome | GARD:17609 | MONDO:equivalentTo | Hypotonia-speech impairment-severe cognitive delay syndrome | | | -| MONDO:0862423 | multicentric osteolysis-nodulosis-arthropathy spectrum | GARD:17610 | MONDO:equivalentTo | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | -| MONDO:0862424 | severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | GARD:17611 | MONDO:equivalentTo | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | | | -| MONDO:0862425 | susceptibility to viral and mycobacterial infections due to stat1 deficiency | GARD:17612 | MONDO:equivalentTo | Susceptibility to viral and mycobacterial infections due to STAT1 deficiency | | | -| MONDO:0862426 | east texas bleeding disorder | GARD:17613 | MONDO:equivalentTo | East Texas bleeding disorder | | | -| MONDO:0862427 | x-linked osteoporosis with fractures | GARD:17614 | MONDO:equivalentTo | X-linked osteoporosis with fractures | | | -| MONDO:0862428 | growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | GARD:17615 | MONDO:equivalentTo | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | | | -| MONDO:0862429 | surf1-related charcot-marie-tooth disease type 4 | GARD:17616 | MONDO:equivalentTo | SURF1-related Charcot-Marie-Tooth disease type 4 | | | -| MONDO:0862430 | congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome | GARD:17617 | MONDO:equivalentTo | Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome | | | -| MONDO:0862431 | familial episodic pain syndrome with predominantly upper body involvement | GARD:17618 | MONDO:equivalentTo | Familial episodic pain syndrome with predominantly upper body involvement | | | -| MONDO:0862432 | familial episodic pain syndrome with predominantly lower limb involvement | GARD:17619 | MONDO:equivalentTo | Familial episodic pain syndrome with predominantly lower limb involvement | | | -| MONDO:0862433 | primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | GARD:17620 | MONDO:equivalentTo | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | -| MONDO:0862434 | atypical juvenile parkinsonism | GARD:17621 | MONDO:equivalentTo | Atypical juvenile parkinsonism | | | -| MONDO:0862435 | hsd10 disease, infantile type | GARD:17622 | MONDO:equivalentTo | HSD10 disease, infantile type | | | -| MONDO:0862436 | hsd10 disease, neonatal type | GARD:17623 | MONDO:equivalentTo | HSD10 disease, neonatal type | | | -| MONDO:0862437 | feingold syndrome type 1 | GARD:17624 | MONDO:equivalentTo | Feingold syndrome type 1 | | | -| MONDO:0862438 | feingold syndrome type 2 | GARD:17625 | MONDO:equivalentTo | Feingold syndrome type 2 | | | -| MONDO:0862439 | multiple acyl-coa dehydrogenase deficiency, severe neonatal type | GARD:17626 | MONDO:equivalentTo | Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type | | | -| MONDO:0862440 | multiple acyl-coa dehydrogenase deficiency, mild type | GARD:17627 | MONDO:equivalentTo | Multiple acyl-CoA dehydrogenase deficiency, mild type | | | -| MONDO:0862441 | silver-russell syndrome due to a point mutation | GARD:17628 | MONDO:equivalentTo | Silver-Russell syndrome due to a point mutation | | | -| MONDO:0862442 | severe neonatal lactic acidosis due to nfs1-isd11 complex deficiency | GARD:17629 | MONDO:equivalentTo | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency | | | -| MONDO:0862443 | macrocephaly-developmental delay syndrome | GARD:17630 | MONDO:equivalentTo | Macrocephaly-developmental delay syndrome | | | -| MONDO:0862444 | obesity due to cep19 deficiency | GARD:17631 | MONDO:equivalentTo | Obesity due to CEP19 deficiency | | | -| MONDO:0862445 | foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome | GARD:17632 | MONDO:equivalentTo | Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome | | | -| MONDO:0862446 | short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | GARD:17633 | MONDO:equivalentTo | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | | | -| MONDO:0862447 | familial hyperprolactinemia | GARD:17634 | MONDO:equivalentTo | Familial hyperprolactinemia | | | -| MONDO:0862448 | hereditary isolated aplastic anemia | GARD:17635 | MONDO:equivalentTo | Hereditary isolated aplastic anemia | | | -| MONDO:0862449 | intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | GARD:17636 | MONDO:equivalentTo | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | -| MONDO:0862450 | joubert syndrome with jeune asphyxiating thoracic dystrophy | GARD:17637 | MONDO:equivalentTo | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | -| MONDO:0862451 | autosomal dominant charcot-marie-tooth disease type 2u | GARD:17638 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2U | | | -| MONDO:0862452 | peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | GARD:17639 | MONDO:equivalentTo | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | | | -| MONDO:0862453 | retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | GARD:17640 | MONDO:equivalentTo | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | | | -| MONDO:0862454 | severe combined immunodeficiency due to ikk2 deficiency | GARD:17641 | MONDO:equivalentTo | Severe combined immunodeficiency due to IKK2 deficiency | | | -| MONDO:0862455 | sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | GARD:17642 | MONDO:equivalentTo | Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | | | -| MONDO:0862456 | polyglucosan body myopathy type 1 | GARD:17643 | MONDO:equivalentTo | Polyglucosan body myopathy type 1 | | | -| MONDO:0862457 | autosomal spastic paraplegia type 58 | GARD:17644 | MONDO:equivalentTo | Autosomal spastic paraplegia type 58 | | | -| MONDO:0862458 | microcephaly-thin corpus callosum-intellectual disability syndrome | GARD:17645 | MONDO:equivalentTo | Microcephaly-thin corpus callosum-intellectual disability syndrome | | | -| MONDO:0862459 | tcr-alpha-beta-positive t-cell deficiency | GARD:17646 | MONDO:equivalentTo | TCR-alpha-beta-positive T-cell deficiency | | | -| MONDO:0862460 | combined immunodeficiency due to malt1 deficiency | GARD:17647 | MONDO:equivalentTo | Combined immunodeficiency due to MALT1 deficiency | | | -| MONDO:0862461 | intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | GARD:17648 | MONDO:equivalentTo | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | | | -| MONDO:0862462 | focal facial dermal dysplasia type ii | GARD:17649 | MONDO:equivalentTo | Focal facial dermal dysplasia type II | | | -| MONDO:0862463 | focal facial dermal dysplasia type iv | GARD:17650 | MONDO:equivalentTo | Focal facial dermal dysplasia type IV | | | -| MONDO:0862464 | alpha-b crystallin-related late-onset myopathy | GARD:17651 | MONDO:equivalentTo | Alpha-B crystallin-related late-onset myopathy | | | -| MONDO:0862465 | finnish upper limb-onset distal myopathy | GARD:17652 | MONDO:equivalentTo | Finnish upper limb-onset distal myopathy | | | -| MONDO:0862466 | distal anoctaminopathy | GARD:17653 | MONDO:equivalentTo | Distal anoctaminopathy | | | -| MONDO:0862467 | male infertility with teratozoospermia due to single gene mutation | GARD:17654 | MONDO:equivalentTo | Male infertility with teratozoospermia due to single gene mutation | | | -| MONDO:0862468 | pancytopenia-developmental delay syndrome | GARD:17655 | MONDO:equivalentTo | Pancytopenia-developmental delay syndrome | | | -| MONDO:0862469 | autosomal recessive spastic paraplegia type 61 | GARD:17656 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 61 | | | -| MONDO:0862470 | autosomal recessive spastic paraplegia type 62 | GARD:17657 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 62 | | | -| MONDO:0862471 | autosomal recessive spastic paraplegia type 63 | GARD:17658 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 63 | | | -| MONDO:0862472 | autosomal recessive spastic paraplegia type 64 | GARD:17659 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 64 | | | -| MONDO:0862473 | autosomal spastic paraplegia type 72 | GARD:17660 | MONDO:equivalentTo | Autosomal spastic paraplegia type 72 | | | -| MONDO:0862474 | multiple mitochondrial dysfunctions syndrome type 1 | GARD:17661 | MONDO:equivalentTo | Multiple mitochondrial dysfunctions syndrome type 1 | | | -| MONDO:0862475 | multiple mitochondrial dysfunctions syndrome type 2 | GARD:17662 | MONDO:equivalentTo | Multiple mitochondrial dysfunctions syndrome type 2 | | | -| MONDO:0862476 | familial median cleft of the upper and lower lips | GARD:17663 | MONDO:equivalentTo | Familial median cleft of the upper and lower lips | | | -| MONDO:0862477 | moyamoya disease with early-onset achalasia | GARD:17664 | MONDO:equivalentTo | Moyamoya disease with early-onset achalasia | | | -| MONDO:0862478 | episodic ataxia with slurred speech | GARD:17665 | MONDO:equivalentTo | Episodic ataxia with slurred speech | | | -| MONDO:0862479 | mend syndrome | GARD:17666 | MONDO:equivalentTo | MEND syndrome | | | -| MONDO:0862480 | autosomal recessive spondylometaphyseal dysplasia, mégarbané type | GARD:17667 | MONDO:equivalentTo | Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type | | | -| MONDO:0862481 | 1p31p32 microdeletion syndrome | GARD:17668 | MONDO:equivalentTo | 1p31p32 microdeletion syndrome | | | -| MONDO:0862482 | autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | GARD:17669 | MONDO:equivalentTo | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | | | -| MONDO:0862483 | familial bicuspid aortic valve | GARD:17670 | MONDO:equivalentTo | Familial bicuspid aortic valve | | | -| MONDO:0862484 | progressive myoclonic epilepsy type 5 | GARD:17671 | MONDO:equivalentTo | Progressive myoclonic epilepsy type 5 | | | -| MONDO:0862485 | diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome | GARD:17672 | MONDO:equivalentTo | Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome | | | -| MONDO:0862486 | intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency | GARD:17673 | MONDO:equivalentTo | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | | | -| MONDO:0862487 | tatton-brown-rahman syndrome | GARD:17674 | MONDO:equivalentTo | Tatton-Brown-Rahman syndrome | | | -| MONDO:0862488 | female infertility due to zona pellucida defect | GARD:17675 | MONDO:equivalentTo | Female infertility due to zona pellucida defect | | | -| MONDO:0862489 | global developmental delay-lung cysts-overgrowth-wilms tumor syndrome | GARD:17676 | MONDO:equivalentTo | Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome | | | -| MONDO:0862490 | autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency | GARD:17677 | MONDO:equivalentTo | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency | | | -| MONDO:0862491 | autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency | GARD:17678 | MONDO:equivalentTo | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency | | | -| MONDO:0862492 | ditra | GARD:17679 | MONDO:equivalentTo | DITRA | | | -| MONDO:0862493 | pontocerebellar hypoplasia type 10 | GARD:17680 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 10 | | | -| MONDO:0862494 | mild phosphoribosylpyrophosphate synthetase superactivity | GARD:17681 | MONDO:equivalentTo | Mild phosphoribosylpyrophosphate synthetase superactivity | | | -| MONDO:0862495 | severe phosphoribosylpyrophosphate synthetase superactivity | GARD:17682 | MONDO:equivalentTo | Severe phosphoribosylpyrophosphate synthetase superactivity | | | -| MONDO:0862496 | wolfram-like syndrome | GARD:17683 | MONDO:equivalentTo | Wolfram-like syndrome | | | -| MONDO:0862497 | hereditary late-onset parkinson disease | GARD:17684 | MONDO:equivalentTo | Hereditary late-onset Parkinson disease | | | -| MONDO:0862498 | juvenile nephropathic cystinosis | GARD:17685 | MONDO:equivalentTo | Juvenile nephropathic cystinosis | | | -| MONDO:0862499 | maternal riboflavin deficiency | GARD:17686 | MONDO:equivalentTo | Maternal riboflavin deficiency | | | -| MONDO:0862500 | early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | GARD:17687 | MONDO:equivalentTo | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | -| MONDO:0862501 | facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | GARD:17688 | MONDO:equivalentTo | Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | | | -| MONDO:0862502 | autosomal recessive cerebellar ataxia due to stub1 deficiency | GARD:17689 | MONDO:equivalentTo | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | -| MONDO:0862503 | epidermolysis bullosa simplex due to bp230 deficiency | GARD:17690 | MONDO:equivalentTo | Epidermolysis bullosa simplex due to BP230 deficiency | | | -| MONDO:0862504 | epidermolysis bullosa simplex due to exophilin 5 deficiency | GARD:17691 | MONDO:equivalentTo | Epidermolysis bullosa simplex due to exophilin 5 deficiency | | | -| MONDO:0862505 | primary failure of tooth eruption | GARD:17692 | MONDO:equivalentTo | Primary failure of tooth eruption | | | -| MONDO:0862506 | cranio-cervical dystonia with laryngeal and upper-limb involvement | GARD:17693 | MONDO:equivalentTo | Cranio-cervical dystonia with laryngeal and upper-limb involvement | | | -| MONDO:0862507 | adult-onset cervical dystonia, dyt23 type | GARD:17694 | MONDO:equivalentTo | Adult-onset cervical dystonia, DYT23 type | | | -| MONDO:0862508 | bleeding disorder due to caldag-gefi deficiency | GARD:17695 | MONDO:equivalentTo | Bleeding disorder due to CalDAG-GEFI deficiency | | | -| MONDO:0862509 | severe combined immunodeficiency due to ctps1 deficiency | GARD:17696 | MONDO:equivalentTo | Severe combined immunodeficiency due to CTPS1 deficiency | | | -| MONDO:0862510 | woolly hair-palmoplantar keratoderma syndrome | GARD:17697 | MONDO:equivalentTo | Woolly hair-palmoplantar keratoderma syndrome | | | -| MONDO:0862511 | autosomal recessive severe congenital neutropenia due to csf3r deficiency | GARD:17698 | MONDO:equivalentTo | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | | | -| MONDO:0862512 | combined oxidative phosphorylation defect type 20 | GARD:17699 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 20 | | | -| MONDO:0862513 | macrosomia-microphthalmia-cleft palate syndrome | GARD:177 | MONDO:equivalentTo | Macrosomia-microphthalmia-cleft palate syndrome | | | -| MONDO:0862514 | combined oxidative phosphorylation defect type 21 | GARD:17700 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 21 | | | -| MONDO:0862515 | riddle syndrome | GARD:17701 | MONDO:equivalentTo | RIDDLE syndrome | | | -| MONDO:0862516 | autosomal recessive severe congenital neutropenia due to jagn1 deficiency | GARD:17702 | MONDO:equivalentTo | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | | | -| MONDO:0862517 | nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | GARD:17703 | MONDO:equivalentTo | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | | | -| MONDO:0862518 | mucolipidosis type iii alpha/beta | GARD:17704 | MONDO:equivalentTo | Mucolipidosis type III alpha/beta | | | -| MONDO:0862519 | mucolipidosis type iii gamma | GARD:17705 | MONDO:equivalentTo | Mucolipidosis type III gamma | | | -| MONDO:0862520 | progressive myoclonic epilepsy type 8 | GARD:17706 | MONDO:equivalentTo | Progressive myoclonic epilepsy type 8 | | | -| MONDO:0862521 | colobomatous microphthalmia-rhizomelic dysplasia syndrome | GARD:17707 | MONDO:equivalentTo | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | | | -| MONDO:0862522 | tor1aip1-related limb-girdle muscular dystrophy | GARD:17708 | MONDO:equivalentTo | TOR1AIP1-related limb-girdle muscular dystrophy | | | -| MONDO:0862523 | x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome | GARD:17709 | MONDO:equivalentTo | X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome | | | -| MONDO:0862524 | combined immunodeficiency due to ox40 deficiency | GARD:17710 | MONDO:equivalentTo | Combined immunodeficiency due to OX40 deficiency | | | -| MONDO:0862525 | primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | GARD:17711 | MONDO:equivalentTo | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | | | -| MONDO:0862526 | autosomal recessive spastic paraplegia type 57 | GARD:17712 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 57 | | | -| MONDO:0862527 | familial ossifying fibroma | GARD:17713 | MONDO:equivalentTo | Familial ossifying fibroma | | | -| MONDO:0862528 | autosomal dominant charcot-marie-tooth disease type 2y | GARD:17714 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | -| MONDO:0862529 | progressive myoclonic epilepsy type 7 | GARD:17715 | MONDO:equivalentTo | Progressive myoclonic epilepsy type 7 | | | -| MONDO:0862530 | keppen-lubinsky syndrome | GARD:17716 | MONDO:equivalentTo | Keppen-Lubinsky syndrome | | | -| MONDO:0862531 | short stature-advanced bone age-early-onset osteoarthritis syndrome | GARD:17717 | MONDO:equivalentTo | Short stature-advanced bone age-early-onset osteoarthritis syndrome | | | -| MONDO:0862532 | lethal neonatal spasticity-epileptic encephalopathy syndrome | GARD:17718 | MONDO:equivalentTo | Lethal neonatal spasticity-epileptic encephalopathy syndrome | | | -| MONDO:0862533 | colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | GARD:17719 | MONDO:equivalentTo | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | | | -| MONDO:0862534 | cog2-cdg | GARD:17720 | MONDO:equivalentTo | COG2-CDG | | | -| MONDO:0862535 | x-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | GARD:17721 | MONDO:equivalentTo | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | | | -| MONDO:0862536 | progeroid features-hepatocellular carcinoma predisposition syndrome | GARD:17722 | MONDO:equivalentTo | Progeroid features-hepatocellular carcinoma predisposition syndrome | | | -| MONDO:0862537 | autosomal recessive intermediate charcot-marie-tooth disease type d | GARD:17723 | MONDO:equivalentTo | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D | | | -| MONDO:0862538 | intellectual disability-expressive aphasia-facial dysmorphism syndrome | GARD:17724 | MONDO:equivalentTo | Intellectual disability-expressive aphasia-facial dysmorphism syndrome | | | -| MONDO:0862539 | periodic fever-infantile enterocolitis-autoinflammatory syndrome | GARD:17725 | MONDO:equivalentTo | Periodic fever-infantile enterocolitis-autoinflammatory syndrome | | | -| MONDO:0862540 | thrombomodulin-related bleeding disorder | GARD:17726 | MONDO:equivalentTo | Thrombomodulin-related bleeding disorder | | | -| MONDO:0862541 | cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | GARD:17727 | MONDO:equivalentTo | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | | | -| MONDO:0862542 | microcephalic primordial dwarfism-insulin resistance syndrome | GARD:17728 | MONDO:equivalentTo | Microcephalic primordial dwarfism-insulin resistance syndrome | | | -| MONDO:0862543 | familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease | GARD:17729 | MONDO:equivalentTo | Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease | | | -| MONDO:0862544 | retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | GARD:17730 | MONDO:equivalentTo | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | | | -| MONDO:0862545 | combined immunodeficiency-enteropathy spectrum | GARD:17731 | MONDO:equivalentTo | Combined immunodeficiency-enteropathy spectrum | | | -| MONDO:0862546 | autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | GARD:17732 | MONDO:equivalentTo | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | | | -| MONDO:0862547 | ketoacidosis due to monocarboxylate transporter-1 deficiency | GARD:17733 | MONDO:equivalentTo | Ketoacidosis due to monocarboxylate transporter-1 deficiency | | | -| MONDO:0862548 | rars-related autosomal recessive hypomyelinating leukodystrophy | GARD:17734 | MONDO:equivalentTo | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | -| MONDO:0862549 | steel syndrome | GARD:17735 | MONDO:equivalentTo | Steel syndrome | | | -| MONDO:0862550 | pcna-related progressive neurodegenerative photosensitivity syndrome | GARD:17736 | MONDO:equivalentTo | PCNA-related progressive neurodegenerative photosensitivity syndrome | | | -| MONDO:0862551 | stat3-related early-onset multisystem autoimmune disease | GARD:17737 | MONDO:equivalentTo | STAT3-related early-onset multisystem autoimmune disease | | | -| MONDO:0862552 | severe autosomal recessive macrothrombocytopenia | GARD:17738 | MONDO:equivalentTo | Severe autosomal recessive macrothrombocytopenia | | | -| MONDO:0862553 | pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome | GARD:17739 | MONDO:equivalentTo | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | | | -| MONDO:0862554 | pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | GARD:17740 | MONDO:equivalentTo | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | | | -| MONDO:0862555 | itm2b amyloidosis | GARD:17741 | MONDO:equivalentTo | ITM2B amyloidosis | | | -| MONDO:0862556 | pde4d haploinsufficiency syndrome | GARD:17742 | MONDO:equivalentTo | PDE4D haploinsufficiency syndrome | | | -| MONDO:0862557 | lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | GARD:17743 | MONDO:equivalentTo | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | | | -| MONDO:0862558 | interstitial lung disease due to sp-c deficiency | GARD:17744 | MONDO:equivalentTo | Interstitial lung disease due to SP-C deficiency | | | -| MONDO:0862559 | interstitial lung disease due to abca3 deficiency | GARD:17745 | MONDO:equivalentTo | Interstitial lung disease due to ABCA3 deficiency | | | -| MONDO:0862560 | severe early-onset pulmonary alveolar proteinosis due to mars deficiency | GARD:17746 | MONDO:equivalentTo | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | | | -| MONDO:0862561 | ribose-5-p isomerase deficiency | GARD:17747 | MONDO:equivalentTo | Ribose-5-P isomerase deficiency | | | -| MONDO:0862562 | l-ferritin deficiency | GARD:17748 | MONDO:equivalentTo | L-ferritin deficiency | | | -| MONDO:0862563 | sporadic porphyria cutanea tarda | GARD:17749 | MONDO:equivalentTo | Sporadic porphyria cutanea tarda | | | -| MONDO:0862564 | familial porphyria cutanea tarda | GARD:17750 | MONDO:equivalentTo | Familial porphyria cutanea tarda | | | -| MONDO:0862565 | charcot-marie-tooth disease type 2s | GARD:17751 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 2S | | | -| MONDO:0862566 | 46,xy disorder of sex development due to testicular 17,20-desmolase deficiency | GARD:17752 | MONDO:equivalentTo | 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | | | -| MONDO:0862567 | hyperostosis cranialis interna | GARD:17753 | MONDO:equivalentTo | Hyperostosis cranialis interna | | | -| MONDO:0862568 | classic stiff person syndrome | GARD:17754 | MONDO:equivalentTo | Classic stiff person syndrome | | | -| MONDO:0862569 | x-linked erythropoietic protoporphyria | GARD:17755 | MONDO:equivalentTo | X-linked erythropoietic protoporphyria | | | -| MONDO:0862570 | focal stiff limb syndrome | GARD:17756 | MONDO:equivalentTo | Focal stiff limb syndrome | | | -| MONDO:0862571 | ventriculomegaly-cystic kidney disease | GARD:17757 | MONDO:equivalentTo | Ventriculomegaly-cystic kidney disease | | | -| MONDO:0862572 | mandibulofacial dysostosis with alopecia | GARD:17758 | MONDO:equivalentTo | Mandibulofacial dysostosis with alopecia | | | -| MONDO:0862573 | combined oxidative phosphorylation defect type 23 | GARD:17759 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 23 | | | -| MONDO:0862574 | 46,xx ovarian dysgenesis-short stature syndrome | GARD:17760 | MONDO:equivalentTo | 46,XX ovarian dysgenesis-short stature syndrome | | | -| MONDO:0862575 | cerebellar-facial-dental syndrome | GARD:17761 | MONDO:equivalentTo | Cerebellar-facial-dental syndrome | | | -| MONDO:0862576 | autoimmune interstitial lung disease-arthritis syndrome | GARD:17762 | MONDO:equivalentTo | Autoimmune interstitial lung disease-arthritis syndrome | | | -| MONDO:0862577 | autosomal dominant spastic paraplegia type 73 | GARD:17763 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 73 | | | -| MONDO:0862578 | peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome | GARD:17764 | MONDO:equivalentTo | Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome | | | -| MONDO:0862579 | combined oxidative phosphorylation defect type 24 | GARD:17765 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 24 | | | -| MONDO:0862580 | autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | GARD:17766 | MONDO:equivalentTo | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | | | -| MONDO:0862581 | 3-methylglutaconic aciduria type 7 | GARD:17767 | MONDO:equivalentTo | 3-methylglutaconic aciduria type 7 | | | -| MONDO:0862582 | juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | GARD:17768 | MONDO:equivalentTo | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | | | -| MONDO:0862583 | limb-girdle muscular dystrophy due to pomk deficiency | GARD:17769 | MONDO:equivalentTo | Limb-girdle muscular dystrophy due to POMK deficiency | | | -| MONDO:0862584 | autosomal recessive spastic paraplegia type 9b | GARD:17770 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 9B | | | -| MONDO:0862585 | mitochondrial pyruvate carrier deficiency | GARD:17771 | MONDO:equivalentTo | Mitochondrial pyruvate carrier deficiency | | | -| MONDO:0862586 | polymerase proofreading-related adenomatous polyposis | GARD:17772 | MONDO:equivalentTo | Polymerase proofreading-related adenomatous polyposis | | | -| MONDO:0862587 | hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome | GARD:17773 | MONDO:equivalentTo | Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome | | | -| MONDO:0862588 | tremor-ataxia-central hypomyelination syndrome | GARD:17774 | MONDO:equivalentTo | Tremor-ataxia-central hypomyelination syndrome | | | -| MONDO:0862589 | combined oxidative phosphorylation defect type 25 | GARD:17775 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 25 | | | -| MONDO:0862590 | pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome | GARD:17776 | MONDO:equivalentTo | Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome | | | -| MONDO:0862591 | autosomal dominant charcot-marie-tooth disease type 2v | GARD:17777 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2V | | | -| MONDO:0862592 | klippel-feil anomaly-myopathy-facial dysmorphism syndrome | GARD:17778 | MONDO:equivalentTo | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | | | -| MONDO:0862593 | progressive scapulohumeroperoneal distal myopathy | GARD:17779 | MONDO:equivalentTo | Progressive scapulohumeroperoneal distal myopathy | | | -| MONDO:0862594 | progressive autosomal recessive ataxia-deafness syndrome | GARD:17780 | MONDO:equivalentTo | Progressive autosomal recessive ataxia-deafness syndrome | | | -| MONDO:0862595 | isolated focal non-epidermolytic palmoplantar keratoderma | GARD:17781 | MONDO:equivalentTo | Isolated focal non-epidermolytic palmoplantar keratoderma | | | -| MONDO:0862596 | regressive spondylometaphyseal dysplasia | GARD:17782 | MONDO:equivalentTo | Regressive spondylometaphyseal dysplasia | | | -| MONDO:0862597 | symptomatic form of fragile x syndrome in female carriers | GARD:17783 | MONDO:equivalentTo | Symptomatic form of fragile X syndrome in female carriers | | | -| MONDO:0862598 | familial congenital nasolacrimal duct obstruction | GARD:17784 | MONDO:equivalentTo | Familial congenital nasolacrimal duct obstruction | | | -| MONDO:0862599 | neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome | GARD:17785 | MONDO:equivalentTo | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome | | | -| MONDO:0862600 | autosomal recessive cerebellar ataxia due to cwf19l1 deficiency | GARD:17786 | MONDO:equivalentTo | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | | | -| MONDO:0862601 | polyendocrine-polyneuropathy syndrome | GARD:17787 | MONDO:equivalentTo | Polyendocrine-polyneuropathy syndrome | | | -| MONDO:0862602 | acquired creutzfeldt-jakob disease | GARD:17788 | MONDO:equivalentTo | Acquired Creutzfeldt-Jakob disease | | | -| MONDO:0862603 | pleomorphic salivary gland adenoma | GARD:17789 | MONDO:equivalentTo | Pleomorphic salivary gland adenoma | | | -| MONDO:0862604 | nthl1-related attenuated familial adenomatous polyposis | GARD:17790 | MONDO:equivalentTo | NTHL1-related attenuated familial adenomatous polyposis | | | -| MONDO:0862605 | infantile multisystem neurologic-endocrine-pancreatic disease | GARD:17791 | MONDO:equivalentTo | Infantile multisystem neurologic-endocrine-pancreatic disease | | | -| MONDO:0862606 | x-linked myotubular myopathy-abnormal genitalia syndrome | GARD:17792 | MONDO:equivalentTo | X-linked myotubular myopathy-abnormal genitalia syndrome | | | -| MONDO:0862607 | polyglucosan body myopathy type 2 | GARD:17793 | MONDO:equivalentTo | Polyglucosan body myopathy type 2 | | | -| MONDO:0862608 | autosomal dominant mitochondrial myopathy with exercise intolerance | GARD:17794 | MONDO:equivalentTo | Autosomal dominant mitochondrial myopathy with exercise intolerance | | | -| MONDO:0862609 | predisposition to invasive fungal disease due to card9 deficiency | GARD:17795 | MONDO:equivalentTo | Predisposition to invasive fungal disease due to CARD9 deficiency | | | -| MONDO:0862610 | neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | GARD:17796 | MONDO:equivalentTo | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | | | -| MONDO:0862611 | autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | GARD:17797 | MONDO:equivalentTo | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | | | -| MONDO:0862612 | progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | GARD:17798 | MONDO:equivalentTo | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | | | -| MONDO:0862613 | syndromic sensorineural deafness due to combined oxidative phosphorylation defect | GARD:17799 | MONDO:equivalentTo | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | | | -| MONDO:0862614 | momo syndrome | GARD:178 | MONDO:equivalentTo | MOMO syndrome | | | -| MONDO:0862615 | x-linked intellectual disability-short stature-overweight syndrome | GARD:17800 | MONDO:equivalentTo | X-linked intellectual disability-short stature-overweight syndrome | | | -| MONDO:0862616 | progressive myoclonic epilepsy type 9 | GARD:17801 | MONDO:equivalentTo | Progressive myoclonic epilepsy type 9 | | | -| MONDO:0862617 | intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | GARD:17802 | MONDO:equivalentTo | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | | | -| MONDO:0862618 | microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | GARD:17803 | MONDO:equivalentTo | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | | | -| MONDO:0862619 | microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | GARD:17804 | MONDO:equivalentTo | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | | | -| MONDO:0862620 | megalencephaly-severe kyphoscoliosis-overgrowth syndrome | GARD:17805 | MONDO:equivalentTo | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | | | -| MONDO:0862621 | itpa-related lethal infantile neurological disorder with cataract and cardiac involvement | GARD:17806 | MONDO:equivalentTo | ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | | | -| MONDO:0862622 | complex lethal osteochondrodysplasia | GARD:17807 | MONDO:equivalentTo | Complex lethal osteochondrodysplasia | | | -| MONDO:0862623 | progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | GARD:17808 | MONDO:equivalentTo | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | -| MONDO:0862624 | multiple mitochondrial dysfunctions syndrome type 4 | GARD:17809 | MONDO:equivalentTo | Multiple mitochondrial dysfunctions syndrome type 4 | | | -| MONDO:0862625 | spinocerebellar ataxia type 41 | GARD:17810 | MONDO:equivalentTo | Spinocerebellar ataxia type 41 | | | -| MONDO:0862626 | spinocerebellar ataxia type 42 | GARD:17811 | MONDO:equivalentTo | Spinocerebellar ataxia type 42 | | | -| MONDO:0862627 | spondyloepiphyseal dysplasia, stanescu type | GARD:17812 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia, Stanescu type | | | -| MONDO:0862628 | autosomal recessive spastic paraplegia type 75 | GARD:17813 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 75 | | | -| MONDO:0862629 | craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | GARD:17814 | MONDO:equivalentTo | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | | | -| MONDO:0862630 | x-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | GARD:17815 | MONDO:equivalentTo | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | | | -| MONDO:0862631 | spastic paraplegia-severe developmental delay-epilepsy syndrome | GARD:17816 | MONDO:equivalentTo | Spastic paraplegia-severe developmental delay-epilepsy syndrome | | | -| MONDO:0862632 | short stature-brachydactyly-obesity-global developmental delay syndrome | GARD:17817 | MONDO:equivalentTo | Short stature-brachydactyly-obesity-global developmental delay syndrome | | | -| MONDO:0862633 | nek9-related lethal skeletal dysplasia | GARD:17818 | MONDO:equivalentTo | NEK9-related lethal skeletal dysplasia | | | -| MONDO:0862634 | primary dystonia, dyt27 type | GARD:17819 | MONDO:equivalentTo | Primary dystonia, DYT27 type | | | -| MONDO:0862635 | fever-associated acute infantile liver failure syndrome | GARD:17820 | MONDO:equivalentTo | Fever-associated acute infantile liver failure syndrome | | | -| MONDO:0862636 | basel-vanagaite-smirin-yosef syndrome | GARD:17821 | MONDO:equivalentTo | Basel-Vanagaite-Smirin-Yosef syndrome | | | -| MONDO:0862637 | familial cavitary optic disc anomaly | GARD:17822 | MONDO:equivalentTo | Familial cavitary optic disc anomaly | | | -| MONDO:0862638 | fetal encasement syndrome | GARD:17823 | MONDO:equivalentTo | Fetal encasement syndrome | | | -| MONDO:0862639 | severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | GARD:17824 | MONDO:equivalentTo | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | | | -| MONDO:0862640 | tmem199-cdg | GARD:17825 | MONDO:equivalentTo | TMEM199-CDG | | | -| MONDO:0862641 | martinique crinkled retinal pigment epitheliopathy | GARD:17826 | MONDO:equivalentTo | Martinique crinkled retinal pigment epitheliopathy | | | -| MONDO:0862642 | autosomal recessive spastic paraplegia type 77 | GARD:17827 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 77 | | | -| MONDO:0862643 | familial patent arterial duct | GARD:17828 | MONDO:equivalentTo | Familial patent arterial duct | | | -| MONDO:0862644 | autosomal dominant charcot-marie-tooth disease type 2z | GARD:17829 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | -| MONDO:0862645 | autosomal recessive charcot-marie-tooth disease type 2x | GARD:17830 | MONDO:equivalentTo | Autosomal recessive Charcot-Marie-Tooth disease type 2X | | | -| MONDO:0862646 | neonatal severe cardiopulmonary failure due to mitochondrial methylation defect | GARD:17831 | MONDO:equivalentTo | Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect | | | -| MONDO:0862647 | macrocephaly-intellectual disability-left ventricular non compaction syndrome | GARD:17832 | MONDO:equivalentTo | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | -| MONDO:0862648 | acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | GARD:17833 | MONDO:equivalentTo | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | -| MONDO:0862649 | lims2-related limb-girdle muscular dystrophy | GARD:17834 | MONDO:equivalentTo | LIMS2-related limb-girdle muscular dystrophy | | | -| MONDO:0862650 | autosomal dominant thrombocytopenia with platelet secretion defect | GARD:17835 | MONDO:equivalentTo | Autosomal dominant thrombocytopenia with platelet secretion defect | | | -| MONDO:0862651 | seizures-scoliosis-macrocephaly syndrome | GARD:17836 | MONDO:equivalentTo | Seizures-scoliosis-macrocephaly syndrome | | | -| MONDO:0862652 | vps11-related autosomal recessive hypomyelinating leukodystrophy | GARD:17837 | MONDO:equivalentTo | VPS11-related autosomal recessive hypomyelinating leukodystrophy | | | -| MONDO:0862653 | wac-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome | GARD:17838 | MONDO:equivalentTo | WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome | | | -| MONDO:0862654 | facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to wac point mutation | GARD:17839 | MONDO:equivalentTo | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | -| MONDO:0862655 | severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | GARD:17840 | MONDO:equivalentTo | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | | | -| MONDO:0862656 | microcephalic cortical malformations-short stature due to rttn deficiency | GARD:17841 | MONDO:equivalentTo | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | -| MONDO:0862657 | autosomal recessive spastic paraplegia type 74 | GARD:17842 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 74 | | | -| MONDO:0862658 | isolated generalized anhidrosis with normal sweat glands | GARD:17843 | MONDO:equivalentTo | Isolated generalized anhidrosis with normal sweat glands | | | -| MONDO:0862659 | colobomatous macrophthalmia-microcornea syndrome | GARD:17844 | MONDO:equivalentTo | Colobomatous macrophthalmia-microcornea syndrome | | | -| MONDO:0862660 | ccdc115-cdg | GARD:17845 | MONDO:equivalentTo | CCDC115-CDG | | | -| MONDO:0862661 | slc39a8-cdg | GARD:17846 | MONDO:equivalentTo | SLC39A8-CDG | | | -| MONDO:0862662 | bves-related limb-girdle muscular dystrophy | GARD:17847 | MONDO:equivalentTo | BVES-related limb-girdle muscular dystrophy | | | -| MONDO:0862663 | hereditary pediatric behçet-like disease | GARD:17848 | MONDO:equivalentTo | Hereditary pediatric Behçet-like disease | | | -| MONDO:0862664 | combined immunodeficiency due to tfrc deficiency | GARD:17849 | MONDO:equivalentTo | Combined immunodeficiency due to TFRC deficiency | | | -| MONDO:0862665 | micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | GARD:17850 | MONDO:equivalentTo | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | | | -| MONDO:0862666 | pmp2-related charcot-marie-tooth disease type 1 | GARD:17851 | MONDO:equivalentTo | PMP2-related Charcot-Marie-Tooth disease type 1 | | | -| MONDO:0862667 | il21-related infantile inflammatory bowel disease | GARD:17852 | MONDO:equivalentTo | IL21-related infantile inflammatory bowel disease | | | -| MONDO:0862668 | postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | GARD:17853 | MONDO:equivalentTo | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | | | -| MONDO:0862669 | combined oxidative phosphorylation defect type 26 | GARD:17854 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 26 | | | -| MONDO:0862670 | pontine autosomal dominant microangiopathy with leukoencephalopathy | GARD:17855 | MONDO:equivalentTo | Pontine autosomal dominant microangiopathy with leukoencephalopathy | | | -| MONDO:0862671 | combined oxidative phosphorylation defect type 27 | GARD:17856 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 27 | | | -| MONDO:0862672 | cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder | GARD:17857 | MONDO:equivalentTo | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | | | -| MONDO:0862673 | progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | GARD:17858 | MONDO:equivalentTo | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | | | -| MONDO:0862674 | pmp22-rai1 contiguous gene duplication syndrome | GARD:17859 | MONDO:equivalentTo | PMP22-RAI1 contiguous gene duplication syndrome | | | -| MONDO:0862675 | kosaki overgrowth syndrome | GARD:17860 | MONDO:equivalentTo | Kosaki overgrowth syndrome | | | -| MONDO:0862676 | autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete rorgamma receptor deficiency | GARD:17861 | MONDO:equivalentTo | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | | | -| MONDO:0862677 | palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | GARD:17862 | MONDO:equivalentTo | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | | | -| MONDO:0862678 | combined oxidative phosphorylation defect type 29 | GARD:17863 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 29 | | | -| MONDO:0862679 | combined oxidative phosphorylation defect type 30 | GARD:17864 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 30 | | | -| MONDO:0862680 | lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | GARD:17865 | MONDO:equivalentTo | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | | | -| MONDO:0862681 | hereditary sensory and autonomic neuropathy type 8 | GARD:17866 | MONDO:equivalentTo | Hereditary sensory and autonomic neuropathy type 8 | | | -| MONDO:0862682 | progressive familial intrahepatic cholestasis type 5 | GARD:17867 | MONDO:equivalentTo | Progressive familial intrahepatic cholestasis type 5 | | | -| MONDO:0862683 | msh3-related attenuated familial adenomatous polyposis | GARD:17868 | MONDO:equivalentTo | MSH3-related attenuated familial adenomatous polyposis | | | -| MONDO:0862684 | poglut1-related limb-girdle muscular dystrophy r21 | GARD:17869 | MONDO:equivalentTo | POGLUT1-related limb-girdle muscular dystrophy R21 | | | -| MONDO:0862685 | hereditary thrombocytopenia with early-onset myelofibrosis | GARD:17870 | MONDO:equivalentTo | Hereditary thrombocytopenia with early-onset myelofibrosis | | | -| MONDO:0862686 | global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | GARD:17871 | MONDO:equivalentTo | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | | | -| MONDO:0862687 | x-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | GARD:17872 | MONDO:equivalentTo | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | | | -| MONDO:0862688 | pycr2-related microcephaly-progressive leukoencephalopathy | GARD:17873 | MONDO:equivalentTo | PYCR2-related microcephaly-progressive leukoencephalopathy | | | -| MONDO:0862689 | familial chilblain lupus | GARD:17874 | MONDO:equivalentTo | Familial Chilblain lupus | | | -| MONDO:0862690 | usp18 deficiency | GARD:17875 | MONDO:equivalentTo | USP18 deficiency | | | -| MONDO:0862691 | familial schizencephaly | GARD:17876 | MONDO:equivalentTo | Familial schizencephaly | | | -| MONDO:0862692 | htra1-related autosomal dominant cerebral small vessel disease | GARD:17877 | MONDO:equivalentTo | HTRA1-related autosomal dominant cerebral small vessel disease | | | -| MONDO:0862693 | adenylosuccinate synthetase-like 1-related distal myopathy | GARD:17878 | MONDO:equivalentTo | Adenylosuccinate synthetase-like 1-related distal myopathy | | | -| MONDO:0862694 | acquired schizencephaly | GARD:17879 | MONDO:equivalentTo | Acquired schizencephaly | | | -| MONDO:0862695 | clcn4-related x-linked intellectual disability syndrome | GARD:17880 | MONDO:equivalentTo | CLCN4-related X-linked intellectual disability syndrome | | | -| MONDO:0862696 | mff-related encephalopathy due to mitochondrial and peroxisomal fission defect | GARD:17881 | MONDO:equivalentTo | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | | | -| MONDO:0862697 | prenatal-onset spinal muscular atrophy with congenital bone fractures | GARD:17882 | MONDO:equivalentTo | Prenatal-onset spinal muscular atrophy with congenital bone fractures | | | -| MONDO:0862698 | congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | GARD:17883 | MONDO:equivalentTo | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | | | -| MONDO:0862699 | macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | GARD:17884 | MONDO:equivalentTo | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | | | -| MONDO:0862700 | pierpont syndrome | GARD:17885 | MONDO:equivalentTo | Pierpont syndrome | | | -| MONDO:0862701 | microcephaly-congenital cataract-psoriasiform dermatitis syndrome | GARD:17886 | MONDO:equivalentTo | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | | | -| MONDO:0862702 | female infertility due to oocyte meiotic arrest | GARD:17887 | MONDO:equivalentTo | Female infertility due to oocyte meiotic arrest | | | -| MONDO:0862703 | familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome | GARD:17888 | MONDO:equivalentTo | Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome | | | -| MONDO:0862704 | split-foot malformation-mesoaxial polydactyly syndrome | GARD:17889 | MONDO:equivalentTo | Split-foot malformation-mesoaxial polydactyly syndrome | | | -| MONDO:0862705 | 14q32 duplication syndrome | GARD:17890 | MONDO:equivalentTo | 14q32 duplication syndrome | | | -| MONDO:0862706 | autosomal dominant charcot-marie-tooth disease type 2w | GARD:17891 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2W | | | -| MONDO:0862707 | autosomal recessive spastic paraplegia type 76 | GARD:17892 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 76 | | | -| MONDO:0862708 | global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | GARD:17893 | MONDO:equivalentTo | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | | | -| MONDO:0862709 | transketolase deficiency | GARD:17894 | MONDO:equivalentTo | Transketolase deficiency | | | -| MONDO:0862710 | severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | GARD:17895 | MONDO:equivalentTo | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | | | -| MONDO:0862711 | tbck-related intellectual disability syndrome | GARD:17896 | MONDO:equivalentTo | TBCK-related intellectual disability syndrome | | | -| MONDO:0862712 | early-onset epilepsy-intellectual disability-brain anomalies syndrome | GARD:17897 | MONDO:equivalentTo | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | | | -| MONDO:0862713 | telo2-related intellectual disability-neurodevelopmental disorder | GARD:17898 | MONDO:equivalentTo | TELO2-related intellectual disability-neurodevelopmental disorder | | | -| MONDO:0862714 | ddx41-related hematologic malignancy predisposition syndrome | GARD:17899 | MONDO:equivalentTo | DDX41-related hematologic malignancy predisposition syndrome | | | -| MONDO:0862715 | distal myopathy, tateyama type | GARD:17900 | MONDO:equivalentTo | Distal myopathy, Tateyama type | | | -| MONDO:0862716 | vibratory angioedema | GARD:17901 | MONDO:equivalentTo | Vibratory angioedema | | | -| MONDO:0862717 | rere-related neurodevelopmental syndrome | GARD:17902 | MONDO:equivalentTo | RERE-related neurodevelopmental syndrome | | | -| MONDO:0862718 | retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | GARD:17903 | MONDO:equivalentTo | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | | | -| MONDO:0862719 | diaph1-related sensorineural hearing loss-thrombocytopenia syndrome | GARD:17904 | MONDO:equivalentTo | DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | | | -| MONDO:0862720 | infantile-onset generalized dyskinesia with orofacial involvement | GARD:17905 | MONDO:equivalentTo | Infantile-onset generalized dyskinesia with orofacial involvement | | | -| MONDO:0862721 | childhood-onset benign chorea with striatal involvement | GARD:17906 | MONDO:equivalentTo | Childhood-onset benign chorea with striatal involvement | | | -| MONDO:0862722 | squamous cell carcinoma of the hypopharynx | GARD:17907 | MONDO:equivalentTo | Squamous cell carcinoma of the hypopharynx | | | -| MONDO:0862723 | squamous cell carcinoma of the larynx | GARD:17908 | MONDO:equivalentTo | Squamous cell carcinoma of the larynx | | | -| MONDO:0862724 | charcot-marie-tooth disease type 2t | GARD:17909 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 2T | | | -| MONDO:0862725 | c11orf73-related autosomal recessive hypomyelinating leukodystrophy | GARD:17910 | MONDO:equivalentTo | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy | | | -| MONDO:0862726 | early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | GARD:17911 | MONDO:equivalentTo | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | -| MONDO:0862727 | kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome | GARD:17912 | MONDO:equivalentTo | Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome | | | -| MONDO:0862728 | even-plus syndrome | GARD:17913 | MONDO:equivalentTo | EVEN-plus syndrome | | | -| MONDO:0862729 | early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | GARD:17914 | MONDO:equivalentTo | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | | | -| MONDO:0862730 | ocular anomalies-axonal neuropathy-developmental delay syndrome | GARD:17915 | MONDO:equivalentTo | Ocular anomalies-axonal neuropathy-developmental delay syndrome | | | -| MONDO:0862731 | mme-related autosomal dominant charcot marie tooth disease type 2 | GARD:17916 | MONDO:equivalentTo | MME-related autosomal dominant Charcot Marie Tooth disease type 2 | | | -| MONDO:0862732 | spinocerebellar ataxia type 43 | GARD:17917 | MONDO:equivalentTo | Spinocerebellar ataxia type 43 | | | -| MONDO:0862733 | childhood-onset basal ganglia degeneration syndrome | GARD:17918 | MONDO:equivalentTo | Childhood-onset basal ganglia degeneration syndrome | | | -| MONDO:0862734 | short rib-polydactyly syndrome type 5 | GARD:17919 | MONDO:equivalentTo | Short rib-polydactyly syndrome type 5 | | | -| MONDO:0862735 | 16p13.2 microdeletion syndrome | GARD:17920 | MONDO:equivalentTo | 16p13.2 microdeletion syndrome | | | -| MONDO:0862736 | tall stature-intellectual disability-renal anomalies syndrome | GARD:17921 | MONDO:equivalentTo | Tall stature-intellectual disability-renal anomalies syndrome | | | -| MONDO:0862737 | multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | GARD:17922 | MONDO:equivalentTo | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | | | -| MONDO:0862738 | early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | GARD:17923 | MONDO:equivalentTo | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | | | -| MONDO:0862739 | microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | GARD:17924 | MONDO:equivalentTo | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | | | -| MONDO:0862740 | sin3a-related intellectual disability syndrome due to a point mutation | GARD:17925 | MONDO:equivalentTo | SIN3A-related intellectual disability syndrome due to a point mutation | | | -| MONDO:0862741 | x-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome | GARD:17926 | MONDO:equivalentTo | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome | | | -| MONDO:0862742 | squamous cell carcinoma of the nasal cavity and paranasal sinuses | GARD:17927 | MONDO:equivalentTo | Squamous cell carcinoma of the nasal cavity and paranasal sinuses | | | -| MONDO:0862743 | squamous cell carcinoma of the oropharynx | GARD:17928 | MONDO:equivalentTo | Squamous cell carcinoma of the oropharynx | | | -| MONDO:0862744 | squamous cell carcinoma of salivary glands | GARD:17929 | MONDO:equivalentTo | Squamous cell carcinoma of salivary glands | | | -| MONDO:0862745 | severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | GARD:17930 | MONDO:equivalentTo | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | | | -| MONDO:0862746 | osteosclerotic metaphyseal dysplasia | GARD:17931 | MONDO:equivalentTo | Osteosclerotic metaphyseal dysplasia | | | -| MONDO:0862747 | squamous cell carcinoma of the oral cavity | GARD:17932 | MONDO:equivalentTo | Squamous cell carcinoma of the oral cavity | | | -| MONDO:0862748 | squamous cell carcinoma of the lip | GARD:17933 | MONDO:equivalentTo | Squamous cell carcinoma of the lip | | | -| MONDO:0862749 | mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | GARD:17934 | MONDO:equivalentTo | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | | | -| MONDO:0862750 | stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | GARD:17935 | MONDO:equivalentTo | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | | | -| MONDO:0862751 | alkaline ceramidase 3 deficiency | GARD:17936 | MONDO:equivalentTo | Alkaline ceramidase 3 deficiency | | | -| MONDO:0862752 | cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | GARD:17937 | MONDO:equivalentTo | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | | | -| MONDO:0862753 | severe combined immunodeficiency due to lat deficiency | GARD:17938 | MONDO:equivalentTo | Severe combined immunodeficiency due to LAT deficiency | | | -| MONDO:0862754 | combined immunodeficiency due to moesin deficiency | GARD:17939 | MONDO:equivalentTo | Combined immunodeficiency due to Moesin deficiency | | | -| MONDO:0862755 | 3-methylglutaconic aciduria type 9 | GARD:17940 | MONDO:equivalentTo | 3-methylglutaconic aciduria type 9 | | | -| MONDO:0862756 | combined immunodeficiency due to gins1 deficiency | GARD:17941 | MONDO:equivalentTo | Combined immunodeficiency due to GINS1 deficiency | | | -| MONDO:0862757 | early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | GARD:17942 | MONDO:equivalentTo | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | | | -| MONDO:0862758 | psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | GARD:17943 | MONDO:equivalentTo | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | | | -| MONDO:0862759 | mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | GARD:17944 | MONDO:equivalentTo | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | -| MONDO:0862760 | stromme syndrome | GARD:17945 | MONDO:equivalentTo | Stromme syndrome | | | -| MONDO:0862761 | autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction | GARD:17946 | MONDO:equivalentTo | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | | | -| MONDO:0862762 | gabriele-de vries syndrome | GARD:17947 | MONDO:equivalentTo | Gabriele-de Vries syndrome | | | -| MONDO:0862763 | intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | GARD:17948 | MONDO:equivalentTo | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | -| MONDO:0862764 | intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome | GARD:17949 | MONDO:equivalentTo | Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome | | | -| MONDO:0862765 | hyperphenylalaninemia due to dnajc12 deficiency | GARD:17950 | MONDO:equivalentTo | Hyperphenylalaninemia due to DNAJC12 deficiency | | | -| MONDO:0862766 | intermediate epidermolysis bullosa simplex with cardiomyopathy | GARD:17951 | MONDO:equivalentTo | Intermediate epidermolysis bullosa simplex with cardiomyopathy | | | -| MONDO:0862767 | autosomal recessive spastic paraplegia type 78 | GARD:17952 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 78 | | | -| MONDO:0862768 | intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | GARD:17953 | MONDO:equivalentTo | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | | | -| MONDO:0862769 | autosomal recessive anterior segment dysgenesis | GARD:17954 | MONDO:equivalentTo | Autosomal recessive anterior segment dysgenesis | | | -| MONDO:0862770 | xq25 microduplication syndrome | GARD:17955 | MONDO:equivalentTo | Xq25 microduplication syndrome | | | -| MONDO:0862771 | proximal myopathy with focal depletion of mitochondria | GARD:17956 | MONDO:equivalentTo | Proximal myopathy with focal depletion of mitochondria | | | -| MONDO:0862772 | spastic paraplegia-intellectual disability-nystagmus-obesity syndrome | GARD:17957 | MONDO:equivalentTo | Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome | | | -| MONDO:0862773 | dystonia-parkinsonism-hypermanganesemia syndrome | GARD:17958 | MONDO:equivalentTo | Dystonia-parkinsonism-hypermanganesemia syndrome | | | -| MONDO:0862774 | autosomal dominant charcot-marie-tooth disease type 2dd | GARD:17959 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2DD | | | -| MONDO:0862775 | plaa-associated neurodevelopmental disorder | GARD:17960 | MONDO:equivalentTo | PLAA-associated neurodevelopmental disorder | | | -| MONDO:0862776 | congenital vertebral-cardiac-renal anomalies syndrome | GARD:17961 | MONDO:equivalentTo | Congenital vertebral-cardiac-renal anomalies syndrome | | | -| MONDO:0862777 | infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | GARD:17962 | MONDO:equivalentTo | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | -| MONDO:0862778 | severe myopia-generalized joint laxity-short stature syndrome | GARD:17963 | MONDO:equivalentTo | Severe myopia-generalized joint laxity-short stature syndrome | | | -| MONDO:0862779 | nkx6-2-related autosomal recessive hypomyelinating leukodystrophy | GARD:17964 | MONDO:equivalentTo | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | | | -| MONDO:0862780 | non-specific syndromic intellectual disability | GARD:17965 | MONDO:equivalentTo | Non-specific syndromic intellectual disability | | | -| MONDO:0862781 | hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | GARD:17966 | MONDO:equivalentTo | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | | | -| MONDO:0862782 | hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome | GARD:17967 | MONDO:equivalentTo | Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome | | | -| MONDO:0862783 | duane retraction syndrome with congenital deafness | GARD:17968 | MONDO:equivalentTo | Duane retraction syndrome with congenital deafness | | | -| MONDO:0862784 | neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | GARD:17969 | MONDO:equivalentTo | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | | | -| MONDO:0862785 | intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | GARD:17970 | MONDO:equivalentTo | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | | | -| MONDO:0862786 | male infertility due to acephalic spermatozoa | GARD:17971 | MONDO:equivalentTo | Male infertility due to acephalic spermatozoa | | | -| MONDO:0862787 | mixed phenotype acute leukemia | GARD:17972 | MONDO:equivalentTo | Mixed phenotype acute leukemia | | | -| MONDO:0862788 | familial gpihbp1 deficiency | GARD:17973 | MONDO:equivalentTo | Familial GPIHBP1 deficiency | | | -| MONDO:0862789 | b3galt6-related spondylodysplastic ehlers-danlos syndrome | GARD:17974 | MONDO:equivalentTo | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | -| MONDO:0862790 | classical-like ehlers-danlos syndrome type 2 | GARD:17975 | MONDO:equivalentTo | Classical-like Ehlers-Danlos syndrome type 2 | | | -| MONDO:0862791 | autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy | GARD:17976 | MONDO:equivalentTo | Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy | | | -| MONDO:0862792 | palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome | GARD:17977 | MONDO:equivalentTo | Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome | | | -| MONDO:0862793 | combined immunodeficiency due to cd70 deficiency | GARD:17978 | MONDO:equivalentTo | Combined immunodeficiency due to CD70 deficiency | | | -| MONDO:0862794 | combined immunodeficiency due to itk deficiency | GARD:17979 | MONDO:equivalentTo | Combined immunodeficiency due to ITK deficiency | | | -| MONDO:0862795 | growth delay-intellectual disability-hepatopathy syndrome | GARD:17980 | MONDO:equivalentTo | Growth delay-intellectual disability-hepatopathy syndrome | | | -| MONDO:0862796 | combined immunodeficiency due to carmil2 deficiency | GARD:17981 | MONDO:equivalentTo | Combined immunodeficiency due to CARMIL2 deficiency | | | -| MONDO:0862797 | gnb5-related intellectual disability-cardiac arrhythmia syndrome | GARD:17982 | MONDO:equivalentTo | GNB5-related intellectual disability-cardiac arrhythmia syndrome | | | -| MONDO:0862798 | auditory neuropathy-optic atrophy syndrome | GARD:17983 | MONDO:equivalentTo | Auditory neuropathy-optic atrophy syndrome | | | -| MONDO:0862799 | isolated hyperchlorhidrosis | GARD:17984 | MONDO:equivalentTo | Isolated hyperchlorhidrosis | | | -| MONDO:0862800 | prune1-related neurological syndrome | GARD:17985 | MONDO:equivalentTo | PRUNE1-related neurological syndrome | | | -| MONDO:0862801 | atypical hemolytic uremic syndrome with complement gene abnormality | GARD:17986 | MONDO:equivalentTo | Atypical hemolytic uremic syndrome with complement gene abnormality | | | -| MONDO:0862802 | global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | GARD:17987 | MONDO:equivalentTo | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | | | -| MONDO:0862803 | rnf13-related severe early-onset epileptic encephalopathy | GARD:17988 | MONDO:equivalentTo | RNF13-related severe early-onset epileptic encephalopathy | | | -| MONDO:0862804 | congenital myopathy with reduced type 2 muscle fibers | GARD:17989 | MONDO:equivalentTo | Congenital myopathy with reduced type 2 muscle fibers | | | -| MONDO:0862805 | nad(p)hx dehydratase deficiency | GARD:17990 | MONDO:equivalentTo | NAD(P)HX dehydratase deficiency | | | -| MONDO:0862806 | nad(p)hx epimerase deficiency | GARD:17991 | MONDO:equivalentTo | NAD(P)HX epimerase deficiency | | | -| MONDO:0862807 | pancreatic agenesis-holoprosencephaly syndrome | GARD:17992 | MONDO:equivalentTo | Pancreatic agenesis-holoprosencephaly syndrome | | | -| MONDO:0862808 | oculocerebrodental syndrome | GARD:17993 | MONDO:equivalentTo | Oculocerebrodental syndrome | | | -| MONDO:0862809 | neonatal epileptic encephalopathy due to glutaminase deficiency | GARD:17994 | MONDO:equivalentTo | Neonatal epileptic encephalopathy due to glutaminase deficiency | | | -| MONDO:0862810 | heme oxygenase-1 deficiency | GARD:17995 | MONDO:equivalentTo | Heme oxygenase-1 deficiency | | | -| MONDO:0862811 | autosomal recessive extra-oral halitosis | GARD:17996 | MONDO:equivalentTo | Autosomal recessive extra-oral halitosis | | | -| MONDO:0862812 | anterior maxillary protrusion-strabismus-intellectual disability syndrome | GARD:17997 | MONDO:equivalentTo | Anterior maxillary protrusion-strabismus-intellectual disability syndrome | | | -| MONDO:0862813 | tmem94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome | GARD:17998 | MONDO:equivalentTo | TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome | | | -| MONDO:0862814 | combined oxidative phosphorylation defect type 39 | GARD:17999 | MONDO:equivalentTo | Combined oxidative phosphorylation defect type 39 | | | -| MONDO:0862815 | myh9-related disease | GARD:180 | MONDO:equivalentTo | MYH9-related disease | | | -| MONDO:0862816 | infantile inflammatory bowel disease with neurological involvement | GARD:18000 | MONDO:equivalentTo | Infantile inflammatory bowel disease with neurological involvement | | | -| MONDO:0862817 | craniosynostosis-microretrognathia-severe intellectual disability syndrome | GARD:18001 | MONDO:equivalentTo | Craniosynostosis-microretrognathia-severe intellectual disability syndrome | | | -| MONDO:0862818 | resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta | GARD:18002 | MONDO:equivalentTo | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta | | | -| MONDO:0862819 | idiopathic steroid-resistant nephrotic syndrome | GARD:18003 | MONDO:equivalentTo | Idiopathic steroid-resistant nephrotic syndrome | | | -| MONDO:0862820 | multiple mitochondrial dysfunctions syndrome type 6 | GARD:18004 | MONDO:equivalentTo | Multiple mitochondrial dysfunctions syndrome type 6 | | | -| MONDO:0862821 | galactose mutarotase deficiency | GARD:18005 | MONDO:equivalentTo | Galactose mutarotase deficiency | | | -| MONDO:0862822 | qrsl1-related combined oxidative phosphorylation defect | GARD:18006 | MONDO:equivalentTo | QRSL1-related combined oxidative phosphorylation defect | | | -| MONDO:0862823 | posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | GARD:18007 | MONDO:equivalentTo | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | | | -| MONDO:0862824 | blepharophimosis-ptosis-epicanthus inversus syndrome type 1 | GARD:18008 | MONDO:equivalentTo | Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 | | | -| MONDO:0862825 | brachydactyly type b1 | GARD:18009 | MONDO:equivalentTo | Brachydactyly type B1 | | | -| MONDO:0862826 | rfvt2-related riboflavin transporter deficiency | GARD:18010 | MONDO:equivalentTo | RFVT2-related riboflavin transporter deficiency | | | -| MONDO:0862827 | microcephaly-micromelia syndrome | GARD:18011 | MONDO:equivalentTo | Microcephaly-micromelia syndrome | | | -| MONDO:0862828 | wars2-related combined oxidative phosphorylation defect | GARD:18012 | MONDO:equivalentTo | WARS2-related combined oxidative phosphorylation defect | | | -| MONDO:0862829 | satb2-associated syndrome due to a pathogenic variant | GARD:18013 | MONDO:equivalentTo | SATB2-associated syndrome due to a pathogenic variant | | | -| MONDO:0862830 | nlrc4-related familial cold autoinflammatory syndrome | GARD:18014 | MONDO:equivalentTo | NLRC4-related familial cold autoinflammatory syndrome | | | -| MONDO:0862831 | qrich1-related intellectual disability-chondrodysplasia syndrome | GARD:18015 | MONDO:equivalentTo | QRICH1-related intellectual disability-chondrodysplasia syndrome | | | -| MONDO:0862832 | spondylometaphyseal dysplasia-corneal dystrophy syndrome | GARD:18016 | MONDO:equivalentTo | Spondylometaphyseal dysplasia-corneal dystrophy syndrome | | | -| MONDO:0862833 | oculocutaneous albinism type 8 | GARD:18017 | MONDO:equivalentTo | Oculocutaneous albinism type 8 | | | -| MONDO:0862834 | mthfs-related developmental delay-microcephaly-short stature-epilepsy syndrome | GARD:18018 | MONDO:equivalentTo | MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome | | | -| MONDO:0862835 | facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome | GARD:18019 | MONDO:equivalentTo | Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome | | | -| MONDO:0862836 | demodicidosis | GARD:1802 | MONDO:equivalentTo | Demodicidosis | | | -| MONDO:0862837 | cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | GARD:18020 | MONDO:equivalentTo | Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | | | -| MONDO:0862838 | coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome | GARD:18021 | MONDO:equivalentTo | Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome | | | -| MONDO:0862839 | kiaa1109-related early lethal congenital brain malformations-arthrogryposis syndrome | GARD:18022 | MONDO:equivalentTo | KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome | | | -| MONDO:0862840 | clcn6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome | GARD:18023 | MONDO:equivalentTo | CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome | | | -| MONDO:0862841 | oculogastrointestinal-neurodevelopmental syndrome | GARD:18024 | MONDO:equivalentTo | Oculogastrointestinal-neurodevelopmental syndrome | | | -| MONDO:0862842 | spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-leber congenital amaurosis syndrome | GARD:18025 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome | | | -| MONDO:0862843 | aplastic anemia-intellectual disability-dwarfism syndrome | GARD:18026 | MONDO:equivalentTo | Aplastic anemia-intellectual disability-dwarfism syndrome | | | -| MONDO:0862844 | en1-related dorsoventral syndrome | GARD:18027 | MONDO:equivalentTo | EN1-related dorsoventral syndrome | | | -| MONDO:0862845 | parkinsonism with polyneuropathy | GARD:18028 | MONDO:equivalentTo | Parkinsonism with polyneuropathy | | | -| MONDO:0862846 | pontocerebellar hypoplasia type 11 | GARD:18029 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 11 | | | -| MONDO:0862847 | pontocerebellar hypoplasia type 12 | GARD:18030 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 12 | | | -| MONDO:0862848 | pontocerebellar hypoplasia type 13 | GARD:18031 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 13 | | | -| MONDO:0862849 | pontocerebellar hypoplasia type 14 | GARD:18032 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 14 | | | -| MONDO:0862850 | spastic paraparesis-cataracts-speech delay syndrome | GARD:18033 | MONDO:equivalentTo | Spastic paraparesis-cataracts-speech delay syndrome | | | -| MONDO:0862851 | lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome | GARD:18034 | MONDO:equivalentTo | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome | | | -| MONDO:0862852 | acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate | GARD:18035 | MONDO:equivalentTo | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate | | | -| MONDO:0862853 | lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation | GARD:18036 | MONDO:equivalentTo | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation | | | -| MONDO:0862854 | lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the atad3 gene cluster | GARD:18037 | MONDO:equivalentTo | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster | | | -| MONDO:0862855 | dent disease type 1 | GARD:1804 | MONDO:equivalentTo | Dent disease type 1 | | | -| MONDO:0862856 | dentin dysplasia type ii | GARD:1806 | MONDO:equivalentTo | Dentin dysplasia type II | | | -| MONDO:0862857 | dentin dysplasia type i | GARD:1807 | MONDO:equivalentTo | Dentin dysplasia type I | | | -| MONDO:0862858 | dentin dysplasia-sclerotic bones syndrome | GARD:1808 | MONDO:equivalentTo | Dentin dysplasia-sclerotic bones syndrome | | | -| MONDO:0862859 | stargardt disease | GARD:181 | MONDO:equivalentTo | Stargardt disease | | | -| MONDO:0862860 | radioulnar synostosis-developmental delay-hypotonia syndrome | GARD:1810 | MONDO:equivalentTo | Radioulnar synostosis-developmental delay-hypotonia syndrome | | | -| MONDO:0862861 | dermatoleukodystrophy | GARD:1813 | MONDO:equivalentTo | Dermatoleukodystrophy | | | -| MONDO:0862862 | dermatoosteolysis, kirghizian type | GARD:1814 | MONDO:equivalentTo | Dermatoosteolysis, Kirghizian type | | | -| MONDO:0862863 | dermochondrocorneal dystrophy | GARD:1815 | MONDO:equivalentTo | Dermochondrocorneal dystrophy | | | -| MONDO:0862864 | dermoodontodysplasia | GARD:1816 | MONDO:equivalentTo | Dermoodontodysplasia | | | -| MONDO:0862865 | desbuquois syndrome | GARD:1818 | MONDO:equivalentTo | Desbuquois syndrome | | | -| MONDO:0862866 | best vitelliform macular dystrophy | GARD:182 | MONDO:equivalentTo | Best vitelliform macular dystrophy | | | -| MONDO:0862867 | desmoid tumor | GARD:1820 | MONDO:equivalentTo | Desmoid tumor | | | -| MONDO:0862868 | familial developmental dysphasia | GARD:1823 | MONDO:equivalentTo | Familial developmental dysphasia | | | -| MONDO:0862869 | dextrocardia | GARD:1827 | MONDO:equivalentTo | Dextrocardia | | | -| MONDO:0862870 | transient neonatal diabetes mellitus | GARD:1839 | MONDO:equivalentTo | Transient neonatal diabetes mellitus | | | -| MONDO:0862871 | yellow nail syndrome | GARD:184 | MONDO:equivalentTo | Yellow nail syndrome | | | -| MONDO:0862872 | immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome | GARD:1850 | MONDO:equivalentTo | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | -| MONDO:0862873 | split cord malformation type i | GARD:1851 | MONDO:equivalentTo | Split cord malformation type I | | | -| MONDO:0862874 | dicarboxylic aminoaciduria | GARD:1855 | MONDO:equivalentTo | Dicarboxylic aminoaciduria | | | -| MONDO:0862875 | diethylstilbestrol syndrome | GARD:1859 | MONDO:equivalentTo | Diethylstilbestrol syndrome | | | -| MONDO:0862876 | diffuse neonatal hemangiomatosis | GARD:1861 | MONDO:equivalentTo | Diffuse neonatal hemangiomatosis | | | -| MONDO:0862877 | familial dilated cardiomyopathy with conduction defect due to lmna mutation | GARD:18615 | MONDO:equivalentTo | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | | | -| MONDO:0862878 | non-epidermolytic palmoplantar keratoderma | GARD:1862 | MONDO:equivalentTo | Non-epidermolytic palmoplantar keratoderma | | | -| MONDO:0862879 | progressive symmetric erythrokeratodermia | GARD:18639 | MONDO:equivalentTo | Progressive symmetric erythrokeratodermia | | | -| MONDO:0862880 | x-linked non-syndromic intellectual disability | GARD:18640 | MONDO:equivalentTo | X-linked non-syndromic intellectual disability | | | -| MONDO:0862881 | generalized epilepsy with febrile seizures-plus | GARD:18641 | MONDO:equivalentTo | Generalized epilepsy with febrile seizures-plus | | | -| MONDO:0862882 | hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | GARD:18642 | MONDO:equivalentTo | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | | | -| MONDO:0862883 | autosomal recessive non-syndromic intellectual disability | GARD:18643 | MONDO:equivalentTo | Autosomal recessive non-syndromic intellectual disability | | | -| MONDO:0862884 | autosomal recessive non-syndromic sensorineural deafness type dfnb | GARD:18644 | MONDO:equivalentTo | Autosomal recessive non-syndromic sensorineural deafness type DFNB | | | -| MONDO:0862885 | juvenile nephronophthisis | GARD:18645 | MONDO:equivalentTo | Juvenile nephronophthisis | | | -| MONDO:0862886 | overgrowth-macrocephaly-facial dysmorphism syndrome | GARD:18646 | MONDO:equivalentTo | Overgrowth-macrocephaly-facial dysmorphism syndrome | | | -| MONDO:0862887 | hereditary persistence of alpha-fetoprotein | GARD:18647 | MONDO:equivalentTo | Hereditary persistence of alpha-fetoprotein | | | -| MONDO:0862888 | hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | GARD:18648 | MONDO:equivalentTo | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | -| MONDO:0862889 | isolated atp synthase deficiency | GARD:18649 | MONDO:equivalentTo | Isolated ATP synthase deficiency | | | -| MONDO:0862890 | autosomal recessive nail dysplasia | GARD:18650 | MONDO:equivalentTo | Autosomal recessive nail dysplasia | | | -| MONDO:0862891 | familial benign flecked retina | GARD:18651 | MONDO:equivalentTo | Familial benign flecked retina | | | -| MONDO:0862892 | isolated sedoheptulokinase deficiency | GARD:18652 | MONDO:equivalentTo | Isolated sedoheptulokinase deficiency | | | -| MONDO:0862893 | dnajb2-related charcot-marie-tooth disease type 2 | GARD:18653 | MONDO:equivalentTo | DNAJB2-related Charcot-Marie-Tooth disease type 2 | | | -| MONDO:0862894 | lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome | GARD:18654 | MONDO:equivalentTo | Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome | | | -| MONDO:0862895 | microcephaly-short stature-limb abnormalities syndrome | GARD:18655 | MONDO:equivalentTo | Microcephaly-short stature-limb abnormalities syndrome | | | -| MONDO:0862896 | amoebiasis due to entamoeba histolytica | GARD:18675 | MONDO:equivalentTo | Amoebiasis due to Entamoeba histolytica | | | -| MONDO:0862897 | amyloidosis | GARD:18676 | MONDO:equivalentTo | Amyloidosis | | | -| MONDO:0862898 | juvenile idiopathic arthritis | GARD:18677 | MONDO:equivalentTo | Juvenile idiopathic arthritis | | | -| MONDO:0862899 | atresia of urethra | GARD:18678 | MONDO:equivalentTo | Atresia of urethra | | | -| MONDO:0862900 | non-rhizomelic chondrodysplasia punctata | GARD:18679 | MONDO:equivalentTo | Non-rhizomelic chondrodysplasia punctata | | | -| MONDO:0862901 | scimitar syndrome | GARD:18680 | MONDO:equivalentTo | Scimitar syndrome | | | -| MONDO:0862902 | isolated corpus callosum agenesis | GARD:18681 | MONDO:equivalentTo | Isolated corpus callosum agenesis | | | -| MONDO:0862903 | neonatal diabetes mellitus | GARD:18682 | MONDO:equivalentTo | Neonatal diabetes mellitus | | | -| MONDO:0862904 | trisomy 9p | GARD:18683 | MONDO:equivalentTo | Trisomy 9p | | | -| MONDO:0862905 | digestive duplication | GARD:18684 | MONDO:equivalentTo | Digestive duplication | | | -| MONDO:0862906 | spondylometaphyseal dysplasia | GARD:18685 | MONDO:equivalentTo | Spondylometaphyseal dysplasia | | | -| MONDO:0862907 | duchenne and becker muscular dystrophy | GARD:18686 | MONDO:equivalentTo | Duchenne and Becker muscular dystrophy | | | -| MONDO:0862908 | congenital herpes simplex virus infection | GARD:18687 | MONDO:equivalentTo | Congenital herpes simplex virus infection | | | -| MONDO:0862909 | reflex epilepsy | GARD:18688 | MONDO:equivalentTo | Reflex epilepsy | | | -| MONDO:0862910 | hemorrhagic fever-renal syndrome | GARD:18689 | MONDO:equivalentTo | Hemorrhagic fever-renal syndrome | | | -| MONDO:0862911 | arbovirus fever | GARD:18690 | MONDO:equivalentTo | Arbovirus fever | | | -| MONDO:0862912 | glycogen storage disease due to phosphorylase kinase deficiency | GARD:18691 | MONDO:equivalentTo | Glycogen storage disease due to phosphorylase kinase deficiency | | | -| MONDO:0862913 | histoplasmosis | GARD:18692 | MONDO:equivalentTo | Histoplasmosis | | | -| MONDO:0862914 | familial keratoacanthoma | GARD:18693 | MONDO:equivalentTo | Familial keratoacanthoma | | | -| MONDO:0862915 | keratosis pilaris atrophicans | GARD:18694 | MONDO:equivalentTo | Keratosis pilaris atrophicans | | | -| MONDO:0862916 | systemic lupus erythematosus | GARD:18695 | MONDO:equivalentTo | Systemic lupus erythematosus | | | -| MONDO:0862917 | toxic epidermal necrolysis | GARD:18696 | MONDO:equivalentTo | Toxic epidermal necrolysis | | | -| MONDO:0862918 | primary cutaneous cd30+ t-cell lymphoproliferative disease | GARD:18697 | MONDO:equivalentTo | Primary cutaneous CD30+ T-cell lymphoproliferative disease | | | -| MONDO:0862919 | primary cutaneous lymphoma | GARD:18698 | MONDO:equivalentTo | Primary cutaneous lymphoma | | | -| MONDO:0862920 | distal myopathy | GARD:18699 | MONDO:equivalentTo | Distal myopathy | | | -| MONDO:0862921 | congenital primary megaureter | GARD:18700 | MONDO:equivalentTo | Congenital primary megaureter | | | -| MONDO:0862922 | non-histaminic angioedema | GARD:18701 | MONDO:equivalentTo | Non-histaminic angioedema | | | -| MONDO:0862923 | plague | GARD:18702 | MONDO:equivalentTo | Plague | | | -| MONDO:0862924 | pili bifurcati | GARD:18703 | MONDO:equivalentTo | Pili bifurcati | | | -| MONDO:0862925 | rare form of salmonellosis | GARD:18704 | MONDO:equivalentTo | Rare form of salmonellosis | | | -| MONDO:0862926 | scleroderma | GARD:18705 | MONDO:equivalentTo | Scleroderma | | | -| MONDO:0862927 | congenital cervical spinal stenosis | GARD:18706 | MONDO:equivalentTo | Congenital cervical spinal stenosis | | | -| MONDO:0862928 | primitive portal vein thrombosis | GARD:18707 | MONDO:equivalentTo | Primitive portal vein thrombosis | | | -| MONDO:0862929 | congenital toxoplasmosis | GARD:18708 | MONDO:equivalentTo | Congenital toxoplasmosis | | | -| MONDO:0862930 | primary adult heart tumor | GARD:18709 | MONDO:equivalentTo | Primary adult heart tumor | | | -| MONDO:0862931 | primary pediatric heart tumor | GARD:18710 | MONDO:equivalentTo | Primary pediatric heart tumor | | | -| MONDO:0862932 | extragonadal teratoma | GARD:18711 | MONDO:equivalentTo | Extragonadal teratoma | | | -| MONDO:0862933 | absence of the pulmonary artery | GARD:18712 | MONDO:equivalentTo | Absence of the pulmonary artery | | | -| MONDO:0862934 | alopecia antibody deficiency | GARD:18713 | MONDO:equivalentTo | Alopecia antibody deficiency | | | -| MONDO:0862935 | sideroblastic anemia | GARD:18714 | MONDO:equivalentTo | Sideroblastic anemia | | | -| MONDO:0862936 | isolated lissencephaly type 1 without known genetic defects | GARD:18715 | MONDO:equivalentTo | Isolated lissencephaly type 1 without known genetic defects | | | -| MONDO:0862937 | radial deficiency-tibial hypoplasia syndrome | GARD:18716 | MONDO:equivalentTo | Radial deficiency-tibial hypoplasia syndrome | | | -| MONDO:0862938 | abnormal origin of the pulmonary artery | GARD:18717 | MONDO:equivalentTo | Abnormal origin of the pulmonary artery | | | -| MONDO:0862939 | autosomal recessive cerebellar ataxia | GARD:18718 | MONDO:equivalentTo | Autosomal recessive cerebellar ataxia | | | -| MONDO:0862940 | mitochondrial dna-related cardiomyopathy and hearing loss | GARD:18719 | MONDO:equivalentTo | Mitochondrial DNA-related cardiomyopathy and hearing loss | | | -| MONDO:0862941 | diphallia | GARD:1872 | MONDO:equivalentTo | Diphallia | | | -| MONDO:0862942 | isolated cerebellar agenesis | GARD:18720 | MONDO:equivalentTo | Isolated cerebellar agenesis | | | -| MONDO:0862943 | paroxysmal dyskinesia | GARD:18721 | MONDO:equivalentTo | Paroxysmal dyskinesia | | | -| MONDO:0862944 | autosomal dominant coarctation of aorta | GARD:18722 | MONDO:equivalentTo | Autosomal dominant coarctation of aorta | | | -| MONDO:0862945 | atypical coarctation of aorta | GARD:18723 | MONDO:equivalentTo | Atypical coarctation of aorta | | | -| MONDO:0862946 | criss-cross heart | GARD:18724 | MONDO:equivalentTo | Criss-cross heart | | | -| MONDO:0862947 | univentricular heart | GARD:18725 | MONDO:equivalentTo | Univentricular heart | | | -| MONDO:0862948 | short rib-polydactyly syndrome | GARD:18726 | MONDO:equivalentTo | Short rib-polydactyly syndrome | | | -| MONDO:0862949 | thin ribs-tubular bones-dysmorphism syndrome | GARD:18727 | MONDO:equivalentTo | Thin ribs-tubular bones-dysmorphism syndrome | | | -| MONDO:0862950 | benign focal seizures of adolescence | GARD:18728 | MONDO:equivalentTo | Benign focal seizures of adolescence | | | -| MONDO:0862951 | non-distal monosomy 10q | GARD:18729 | MONDO:equivalentTo | Non-distal monosomy 10q | | | -| MONDO:0862952 | deletion 5q35 | GARD:18730 | MONDO:equivalentTo | Deletion 5q35 | | | -| MONDO:0862953 | distal monosomy 7q36 | GARD:18731 | MONDO:equivalentTo | Distal monosomy 7q36 | | | -| MONDO:0862954 | distal monosomy 9p | GARD:18732 | MONDO:equivalentTo | Distal monosomy 9p | | | -| MONDO:0862955 | xp22.3 microdeletion syndrome | GARD:18733 | MONDO:equivalentTo | Xp22.3 microdeletion syndrome | | | -| MONDO:0862956 | sporadic fetal brain disruption sequence | GARD:18734 | MONDO:equivalentTo | Sporadic fetal brain disruption sequence | | | -| MONDO:0862957 | familial idiopathic dilatation of the right atrium | GARD:18735 | MONDO:equivalentTo | Familial idiopathic dilatation of the right atrium | | | -| MONDO:0862958 | mosaic trisomy 1 | GARD:18736 | MONDO:equivalentTo | Mosaic trisomy 1 | | | -| MONDO:0862959 | non-distal trisomy 10q | GARD:18737 | MONDO:equivalentTo | Non-distal trisomy 10q | | | -| MONDO:0862960 | non-distal trisomy 13q | GARD:18738 | MONDO:equivalentTo | Non-distal trisomy 13q | | | -| MONDO:0862961 | distal trisomy 14q | GARD:18739 | MONDO:equivalentTo | Distal trisomy 14q | | | -| MONDO:0862962 | hemolytic anemia due to diphosphoglycerate mutase deficiency | GARD:1874 | MONDO:equivalentTo | Hemolytic anemia due to diphosphoglycerate mutase deficiency | | | -| MONDO:0862963 | distal trisomy 15q | GARD:18740 | MONDO:equivalentTo | Distal trisomy 15q | | | -| MONDO:0862964 | mosaic trisomy 16 | GARD:18741 | MONDO:equivalentTo | Mosaic trisomy 16 | | | -| MONDO:0862965 | distal trisomy 18q | GARD:18742 | MONDO:equivalentTo | Distal trisomy 18q | | | -| MONDO:0862966 | distal trisomy 19q | GARD:18743 | MONDO:equivalentTo | Distal trisomy 19q | | | -| MONDO:0862967 | mosaic trisomy 20 | GARD:18744 | MONDO:equivalentTo | Mosaic trisomy 20 | | | -| MONDO:0862968 | distal trisomy 6p | GARD:18745 | MONDO:equivalentTo | Distal trisomy 6p | | | -| MONDO:0862969 | fibular dimelia-diplopodia syndrome | GARD:18746 | MONDO:equivalentTo | Fibular dimelia-diplopodia syndrome | | | -| MONDO:0862970 | 45,x/46,xy mixed gonadal dysgenesis | GARD:18747 | MONDO:equivalentTo | 45,X/46,XY mixed gonadal dysgenesis | | | -| MONDO:0862971 | multicystic dysplastic kidney | GARD:18748 | MONDO:equivalentTo | Multicystic dysplastic kidney | | | -| MONDO:0862972 | focal, segmental or multifocal dystonia | GARD:18749 | MONDO:equivalentTo | Focal, segmental or multifocal dystonia | | | -| MONDO:0862973 | diphtheria | GARD:1875 | MONDO:equivalentTo | Diphtheria | | | -| MONDO:0862974 | fetal trimethadione syndrome | GARD:18750 | MONDO:equivalentTo | Fetal trimethadione syndrome | | | -| MONDO:0862975 | toluene embryopathy | GARD:18751 | MONDO:equivalentTo | Toluene embryopathy | | | -| MONDO:0862976 | rasmussen subacute encephalitis | GARD:18752 | MONDO:equivalentTo | Rasmussen subacute encephalitis | | | -| MONDO:0862977 | frontal encephalocele | GARD:18753 | MONDO:equivalentTo | Frontal encephalocele | | | -| MONDO:0862978 | cleft lip with or without cleft palate | GARD:18754 | MONDO:equivalentTo | Cleft lip with or without cleft palate | | | -| MONDO:0862979 | cleft lip/palate-deafness-sacral lipoma syndrome | GARD:18755 | MONDO:equivalentTo | Cleft lip/palate-deafness-sacral lipoma syndrome | | | -| MONDO:0862980 | median cleft lip/mandibule | GARD:18756 | MONDO:equivalentTo | Median cleft lip/mandibule | | | -| MONDO:0862981 | filariasis | GARD:18757 | MONDO:equivalentTo | Filariasis | | | -| MONDO:0862982 | congenital systemic arteriovenous fistula | GARD:18758 | MONDO:equivalentTo | Congenital systemic arteriovenous fistula | | | -| MONDO:0862983 | progressive non-infectious anterior vertebral fusion | GARD:18759 | MONDO:equivalentTo | Progressive non-infectious anterior vertebral fusion | | | -| MONDO:0862984 | diprosopus | GARD:1876 | MONDO:equivalentTo | Diprosopus | | | -| MONDO:0862985 | dysmorphism-pectus carinatum-joint laxity syndrome | GARD:18760 | MONDO:equivalentTo | Dysmorphism-pectus carinatum-joint laxity syndrome | | | -| MONDO:0862986 | hemimelia | GARD:18761 | MONDO:equivalentTo | Hemimelia | | | -| MONDO:0862987 | craniosynostosis, herrmann-opitz type | GARD:18762 | MONDO:equivalentTo | Craniosynostosis, Herrmann-Opitz type | | | -| MONDO:0862988 | hypotrichosis-intellectual disability, lopes type | GARD:18763 | MONDO:equivalentTo | Hypotrichosis-intellectual disability, Lopes type | | | -| MONDO:0862989 | dysmorphism-short stature-deafness-disorder of sex development syndrome | GARD:18764 | MONDO:equivalentTo | Dysmorphism-short stature-deafness-disorder of sex development syndrome | | | -| MONDO:0862990 | isotretinoin syndrome | GARD:18765 | MONDO:equivalentTo | Isotretinoin syndrome | | | -| MONDO:0862991 | epidermolysis bullosa simplex with anodontia/hypodontia | GARD:18766 | MONDO:equivalentTo | Epidermolysis bullosa simplex with anodontia/hypodontia | | | -| MONDO:0862992 | kallmann syndrome-heart disease syndrome | GARD:18767 | MONDO:equivalentTo | Kallmann syndrome-heart disease syndrome | | | -| MONDO:0862993 | isolated punctate palmoplantar keratoderma | GARD:18768 | MONDO:equivalentTo | Isolated punctate palmoplantar keratoderma | | | -| MONDO:0862994 | congenital primary lymphedema without systemic or visceral involvement | GARD:18769 | MONDO:equivalentTo | Congenital primary lymphedema without systemic or visceral involvement | | | -| MONDO:0862995 | primary pulmonary lymphoma | GARD:18770 | MONDO:equivalentTo | Primary pulmonary lymphoma | | | -| MONDO:0862996 | mitochondrial oxidative phosphorylation disorder due to nuclear dna anomalies | GARD:18771 | MONDO:equivalentTo | Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies | | | -| MONDO:0862997 | congenital pulmonary airway malformation | GARD:18772 | MONDO:equivalentTo | Congenital pulmonary airway malformation | | | -| MONDO:0862998 | lower limb malformation-hypospadias syndrome | GARD:18773 | MONDO:equivalentTo | Lower limb malformation-hypospadias syndrome | | | -| MONDO:0862999 | microcephaly-seizures-intellectual disability-heart disease syndrome | GARD:18774 | MONDO:equivalentTo | Microcephaly-seizures-intellectual disability-heart disease syndrome | | | -| MONDO:0863000 | myalgia-eosinophilia syndrome associated with tryptophan | GARD:18775 | MONDO:equivalentTo | Myalgia-eosinophilia syndrome associated with tryptophan | | | -| MONDO:0863001 | osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome | GARD:18776 | MONDO:equivalentTo | Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome | | | -| MONDO:0863002 | adult familial nephronophthisis-spastic quadriparesia syndrome | GARD:18777 | MONDO:equivalentTo | Adult familial nephronophthisis-spastic quadriparesia syndrome | | | -| MONDO:0863003 | osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome | GARD:18778 | MONDO:equivalentTo | Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome | | | -| MONDO:0863004 | congenital pericardium anomaly | GARD:18779 | MONDO:equivalentTo | Congenital pericardium anomaly | | | -| MONDO:0863005 | pericardial and diaphragmatic defect | GARD:18780 | MONDO:equivalentTo | Pericardial and diaphragmatic defect | | | -| MONDO:0863006 | hereditary acrokeratotic poikiloderma | GARD:18781 | MONDO:equivalentTo | Hereditary acrokeratotic poikiloderma | | | -| MONDO:0863007 | 46,xx disorder of sex development-anorectal anomalies syndrome | GARD:18782 | MONDO:equivalentTo | 46,XX disorder of sex development-anorectal anomalies syndrome | | | -| MONDO:0863008 | 46,xx disorder of sex development | GARD:18783 | MONDO:equivalentTo | 46,XX disorder of sex development | | | -| MONDO:0863009 | mirror polydactyly-vertebral segmentation-limbs defects syndrome | GARD:18784 | MONDO:equivalentTo | Mirror polydactyly-vertebral segmentation-limbs defects syndrome | | | -| MONDO:0863010 | congenital systemic veins anomaly | GARD:18785 | MONDO:equivalentTo | Congenital systemic veins anomaly | | | -| MONDO:0863011 | congenital aortic valve stenosis | GARD:18786 | MONDO:equivalentTo | Congenital aortic valve stenosis | | | -| MONDO:0863012 | multiple sclerosis-ichthyosis-factor viii deficiency syndrome | GARD:18787 | MONDO:equivalentTo | Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome | | | -| MONDO:0863013 | hearing loss-familial salivary gland insensitivity to aldosterone syndrome | GARD:18788 | MONDO:equivalentTo | Hearing loss-familial salivary gland insensitivity to aldosterone syndrome | | | -| MONDO:0863014 | central nervous system calcification-deafness-tubular acidosis-anemia syndrome | GARD:18789 | MONDO:equivalentTo | Central nervous system calcification-deafness-tubular acidosis-anemia syndrome | | | -| MONDO:0863015 | disorder of plasmalogens biosynthesis | GARD:18790 | MONDO:equivalentTo | Disorder of plasmalogens biosynthesis | | | -| MONDO:0863016 | telecanthus-hypertelorism-strabismus-pes cavus syndrome | GARD:18791 | MONDO:equivalentTo | Telecanthus-hypertelorism-strabismus-pes cavus syndrome | | | -| MONDO:0863017 | tetrasomy 5p | GARD:18792 | MONDO:equivalentTo | Tetrasomy 5p | | | -| MONDO:0863018 | toxocariasis | GARD:18793 | MONDO:equivalentTo | Toxocariasis | | | -| MONDO:0863019 | distal trisomy 17q | GARD:18794 | MONDO:equivalentTo | Distal trisomy 17q | | | -| MONDO:0863020 | american trypanosomiasis | GARD:18795 | MONDO:equivalentTo | American trypanosomiasis | | | -| MONDO:0863021 | neural tube defect | GARD:18796 | MONDO:equivalentTo | Neural tube defect | | | -| MONDO:0863022 | germ cell tumor | GARD:18797 | MONDO:equivalentTo | Germ cell tumor | | | -| MONDO:0863023 | aorto-ventricular tunnel | GARD:18798 | MONDO:equivalentTo | Aorto-ventricular tunnel | | | -| MONDO:0863024 | protein s acquired deficiency | GARD:18799 | MONDO:equivalentTo | Protein S acquired deficiency | | | -| MONDO:0863025 | oral erosive lichen | GARD:18800 | MONDO:equivalentTo | Oral erosive lichen | | | -| MONDO:0863026 | hypoalphalipoproteinemia | GARD:18801 | MONDO:equivalentTo | Hypoalphalipoproteinemia | | | -| MONDO:0863027 | hypobetalipoproteinemia | GARD:18802 | MONDO:equivalentTo | Hypobetalipoproteinemia | | | -| MONDO:0863028 | colchicine poisoning | GARD:18803 | MONDO:equivalentTo | Colchicine poisoning | | | -| MONDO:0863029 | methanol poisoning | GARD:18804 | MONDO:equivalentTo | Methanol poisoning | | | -| MONDO:0863030 | ethylene glycol poisoning | GARD:18805 | MONDO:equivalentTo | Ethylene glycol poisoning | | | -| MONDO:0863031 | paraquat poisoning | GARD:18806 | MONDO:equivalentTo | Paraquat poisoning | | | -| MONDO:0863032 | digitalis poisoning | GARD:18807 | MONDO:equivalentTo | Digitalis poisoning | | | -| MONDO:0863033 | bullous lichen planus | GARD:18808 | MONDO:equivalentTo | Bullous lichen planus | | | -| MONDO:0863034 | meningococcal meningitis | GARD:18809 | MONDO:equivalentTo | Meningococcal meningitis | | | -| MONDO:0863035 | corneal dystrophy | GARD:18810 | MONDO:equivalentTo | Corneal dystrophy | | | -| MONDO:0863036 | severe disseminated cytomegalovirus infection in immunocompetent patients | GARD:18811 | MONDO:equivalentTo | Severe disseminated cytomegalovirus infection in immunocompetent patients | | | -| MONDO:0863037 | fulminant viral hepatitis | GARD:18812 | MONDO:equivalentTo | Fulminant viral hepatitis | | | -| MONDO:0863038 | epidermal nevus syndrome | GARD:18813 | MONDO:equivalentTo | Epidermal nevus syndrome | | | -| MONDO:0863039 | mitochondrial disorder due to a defect in mitochondrial protein synthesis | GARD:18814 | MONDO:equivalentTo | Mitochondrial disorder due to a defect in mitochondrial protein synthesis | | | -| MONDO:0863040 | neurometabolic disorder due to serine deficiency | GARD:18815 | MONDO:equivalentTo | Neurometabolic disorder due to serine deficiency | | | -| MONDO:0863041 | malignant sex cord stromal tumor of ovary | GARD:18816 | MONDO:equivalentTo | Malignant sex cord stromal tumor of ovary | | | -| MONDO:0863042 | acute opioid poisoning | GARD:18817 | MONDO:equivalentTo | Acute opioid poisoning | | | -| MONDO:0863043 | polymicrogyria | GARD:18818 | MONDO:equivalentTo | Polymicrogyria | | | -| MONDO:0863044 | staphylococcal scarlet fever | GARD:18819 | MONDO:equivalentTo | Staphylococcal scarlet fever | | | -| MONDO:0863045 | bullous impetigo | GARD:18820 | MONDO:equivalentTo | Bullous impetigo | | | -| MONDO:0863046 | staphylococcal necrotizing pneumonia | GARD:18821 | MONDO:equivalentTo | Staphylococcal necrotizing pneumonia | | | -| MONDO:0863047 | gastric linitis plastica | GARD:18822 | MONDO:equivalentTo | Gastric linitis plastica | | | -| MONDO:0863048 | familial cervical artery dissection | GARD:18823 | MONDO:equivalentTo | Familial cervical artery dissection | | | -| MONDO:0863049 | autoimmune hypoparathyroidism | GARD:18824 | MONDO:equivalentTo | Autoimmune hypoparathyroidism | | | -| MONDO:0863050 | interstitial cystitis | GARD:18825 | MONDO:equivalentTo | Interstitial cystitis | | | -| MONDO:0863051 | acquired kinky hair syndrome | GARD:18826 | MONDO:equivalentTo | Acquired kinky hair syndrome | | | -| MONDO:0863052 | acitretin/etretinate embryopathy | GARD:18827 | MONDO:equivalentTo | Acitretin/etretinate embryopathy | | | -| MONDO:0863053 | serotonin syndrome | GARD:18828 | MONDO:equivalentTo | Serotonin syndrome | | | -| MONDO:0863054 | acute tricyclic antidepressant poisoning | GARD:18829 | MONDO:equivalentTo | Acute tricyclic antidepressant poisoning | | | -| MONDO:0863055 | dissecting cellulitis of the scalp | GARD:1883 | MONDO:equivalentTo | Dissecting cellulitis of the scalp | | | -| MONDO:0863056 | acute poisoning by drugs with membrane-stabilizing effect | GARD:18830 | MONDO:equivalentTo | Acute poisoning by drugs with membrane-stabilizing effect | | | -| MONDO:0863057 | idiopathic neonatal atrial flutter | GARD:18831 | MONDO:equivalentTo | Idiopathic neonatal atrial flutter | | | -| MONDO:0863058 | incessant infant ventricular tachycardia | GARD:18832 | MONDO:equivalentTo | Incessant infant ventricular tachycardia | | | -| MONDO:0863059 | superficial pemphigus | GARD:18833 | MONDO:equivalentTo | Superficial pemphigus | | | -| MONDO:0863060 | linear iga dermatosis | GARD:18834 | MONDO:equivalentTo | Linear IgA dermatosis | | | -| MONDO:0863061 | postinfectious vasculitis | GARD:18835 | MONDO:equivalentTo | Postinfectious vasculitis | | | -| MONDO:0863062 | embryonal carcinoma of the central nervous system | GARD:18836 | MONDO:equivalentTo | Embryonal carcinoma of the central nervous system | | | -| MONDO:0863063 | focal myositis | GARD:18837 | MONDO:equivalentTo | Focal myositis | | | -| MONDO:0863064 | acquired purpura fulminans | GARD:18838 | MONDO:equivalentTo | Acquired purpura fulminans | | | -| MONDO:0863065 | lichen amyloidosis | GARD:18839 | MONDO:equivalentTo | Lichen amyloidosis | | | -| MONDO:0863066 | microlissencephaly-micromelia syndrome | GARD:18840 | MONDO:equivalentTo | Microlissencephaly-micromelia syndrome | | | -| MONDO:0863067 | zellweger-like syndrome without peroxisomal anomalies | GARD:18841 | MONDO:equivalentTo | Zellweger-like syndrome without peroxisomal anomalies | | | -| MONDO:0863068 | duane anomaly-myopathy-scoliosis syndrome | GARD:18842 | MONDO:equivalentTo | Duane anomaly-myopathy-scoliosis syndrome | | | -| MONDO:0863069 | anterior cutaneous nerve entrapment syndrome | GARD:18843 | MONDO:equivalentTo | Anterior cutaneous nerve entrapment syndrome | | | -| MONDO:0863070 | vasculitis | GARD:18844 | MONDO:equivalentTo | Vasculitis | | | -| MONDO:0863071 | orbital leiomyoma | GARD:18845 | MONDO:equivalentTo | Orbital leiomyoma | | | -| MONDO:0863072 | posterior cortical atrophy | GARD:18846 | MONDO:equivalentTo | Posterior cortical atrophy | | | -| MONDO:0863073 | hepatocellular adenoma | GARD:18847 | MONDO:equivalentTo | Hepatocellular adenoma | | | -| MONDO:0863074 | sarcocystosis | GARD:18848 | MONDO:equivalentTo | Sarcocystosis | | | -| MONDO:0863075 | pneumococcal meningitis | GARD:18849 | MONDO:equivalentTo | Pneumococcal meningitis | | | -| MONDO:0863076 | carcinoma of gallbladder and extrahepatic biliary tract | GARD:18850 | MONDO:equivalentTo | Carcinoma of gallbladder and extrahepatic biliary tract | | | -| MONDO:0863077 | human prion disease | GARD:18851 | MONDO:equivalentTo | Human prion disease | | | -| MONDO:0863078 | cirrhotic cardiomyopathy | GARD:18852 | MONDO:equivalentTo | Cirrhotic cardiomyopathy | | | -| MONDO:0863079 | mazabraud syndrome | GARD:18853 | MONDO:equivalentTo | Mazabraud syndrome | | | -| MONDO:0863080 | osteoblastoma | GARD:18854 | MONDO:equivalentTo | Osteoblastoma | | | -| MONDO:0863081 | rhombencephalosynapsis | GARD:18855 | MONDO:equivalentTo | Rhombencephalosynapsis | | | -| MONDO:0863082 | argyria | GARD:18856 | MONDO:equivalentTo | Argyria | | | -| MONDO:0863083 | rare epithelial tumor of stomach | GARD:18857 | MONDO:equivalentTo | Rare epithelial tumor of stomach | | | -| MONDO:0863084 | paraneoplastic pemphigus | GARD:18858 | MONDO:equivalentTo | Paraneoplastic pemphigus | | | -| MONDO:0863085 | acrofacial dysostosis, kennedy-teebi type | GARD:18859 | MONDO:equivalentTo | Acrofacial dysostosis, Kennedy-Teebi type | | | -| MONDO:0863086 | late-onset distal myopathy, markesbery-griggs type | GARD:1886 | MONDO:equivalentTo | Late-onset distal myopathy, Markesbery-Griggs type | | | -| MONDO:0863087 | benign idiopathic neonatal seizures | GARD:18860 | MONDO:equivalentTo | Benign idiopathic neonatal seizures | | | -| MONDO:0863088 | oroya fever | GARD:18861 | MONDO:equivalentTo | Oroya fever | | | -| MONDO:0863089 | trench fever | GARD:18862 | MONDO:equivalentTo | Trench fever | | | -| MONDO:0863090 | granulomatous mastitis | GARD:18863 | MONDO:equivalentTo | Granulomatous mastitis | | | -| MONDO:0863091 | pulmonary blastoma | GARD:18864 | MONDO:equivalentTo | Pulmonary blastoma | | | -| MONDO:0863092 | hepatoportal sclerosis | GARD:18865 | MONDO:equivalentTo | Hepatoportal sclerosis | | | -| MONDO:0863093 | igg4-related thyroid disease | GARD:18866 | MONDO:equivalentTo | IgG4-related thyroid disease | | | -| MONDO:0863094 | vaginal atresia | GARD:18867 | MONDO:equivalentTo | Vaginal atresia | | | -| MONDO:0863095 | short fifth metacarpals-insulin resistance syndrome | GARD:18868 | MONDO:equivalentTo | Short fifth metacarpals-insulin resistance syndrome | | | -| MONDO:0863096 | sensorineural hearing loss-early graying-essential tremor syndrome | GARD:18869 | MONDO:equivalentTo | Sensorineural hearing loss-early graying-essential tremor syndrome | | | -| MONDO:0863097 | vocal cord and pharyngeal distal myopathy | GARD:1887 | MONDO:equivalentTo | Vocal cord and pharyngeal distal myopathy | | | -| MONDO:0863098 | mast cell sarcoma | GARD:18870 | MONDO:equivalentTo | Mast cell sarcoma | | | -| MONDO:0863099 | extracutaneous mastocytoma | GARD:18871 | MONDO:equivalentTo | Extracutaneous mastocytoma | | | -| MONDO:0863100 | segmental odontomaxillary dysplasia | GARD:18872 | MONDO:equivalentTo | Segmental odontomaxillary dysplasia | | | -| MONDO:0863101 | rare hemorrhagic disorder due to a constitutional coagulation factors defect | GARD:18873 | MONDO:equivalentTo | Rare hemorrhagic disorder due to a constitutional coagulation factors defect | | | -| MONDO:0863102 | rare chromosomal anomaly | GARD:18874 | MONDO:equivalentTo | Rare chromosomal anomaly | | | -| MONDO:0863103 | rare genetic tumor | GARD:18875 | MONDO:equivalentTo | Rare genetic tumor | | | -| MONDO:0863104 | multiple congenital anomalies/dysmorphic syndrome | GARD:18876 | MONDO:equivalentTo | Multiple congenital anomalies/dysmorphic syndrome | | | -| MONDO:0863105 | rare genetic skin disease | GARD:18877 | MONDO:equivalentTo | Rare genetic skin disease | | | -| MONDO:0863106 | tumor of hematopoietic and lymphoid tissues | GARD:18878 | MONDO:equivalentTo | Tumor of hematopoietic and lymphoid tissues | | | -| MONDO:0863107 | rare sleep disorder | GARD:18879 | MONDO:equivalentTo | Rare sleep disorder | | | -| MONDO:0863108 | rare deafness | GARD:18880 | MONDO:equivalentTo | Rare deafness | | | -| MONDO:0863109 | rare vascular disease | GARD:18881 | MONDO:equivalentTo | Rare vascular disease | | | -| MONDO:0863110 | rare dystonia | GARD:18882 | MONDO:equivalentTo | Rare dystonia | | | -| MONDO:0863111 | hemoglobinopathy | GARD:18883 | MONDO:equivalentTo | Hemoglobinopathy | | | -| MONDO:0863112 | lysosomal disease | GARD:18884 | MONDO:equivalentTo | Lysosomal disease | | | -| MONDO:0863113 | peroxisomal disease | GARD:18885 | MONDO:equivalentTo | Peroxisomal disease | | | -| MONDO:0863114 | congenital limb malformation | GARD:18886 | MONDO:equivalentTo | Congenital limb malformation | | | -| MONDO:0863115 | mitochondrial disease | GARD:18887 | MONDO:equivalentTo | Mitochondrial disease | | | -| MONDO:0863116 | neuromuscular disease | GARD:18888 | MONDO:equivalentTo | Neuromuscular disease | | | -| MONDO:0863117 | rare constitutional aplastic anemia | GARD:18889 | MONDO:equivalentTo | Rare constitutional aplastic anemia | | | -| MONDO:0863118 | neurometabolic disease | GARD:18890 | MONDO:equivalentTo | Neurometabolic disease | | | -| MONDO:0863119 | rare parkinsonian disorder | GARD:18891 | MONDO:equivalentTo | Rare parkinsonian disorder | | | -| MONDO:0863120 | rare bone tumor | GARD:18892 | MONDO:equivalentTo | Rare bone tumor | | | -| MONDO:0863121 | rare parathyroid disease and phosphocalcic metabolism anomaly | GARD:18893 | MONDO:equivalentTo | Rare parathyroid disease and phosphocalcic metabolism anomaly | | | -| MONDO:0863122 | vascular anomaly or angioma | GARD:18894 | MONDO:equivalentTo | Vascular anomaly or angioma | | | -| MONDO:0863123 | dysostosis with brachydactyly | GARD:18895 | MONDO:equivalentTo | Dysostosis with brachydactyly | | | -| MONDO:0863124 | congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization | GARD:18896 | MONDO:equivalentTo | Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization | | | -| MONDO:0863125 | bilateral acute depigmentation of the iris | GARD:18897 | MONDO:equivalentTo | Bilateral acute depigmentation of the iris | | | -| MONDO:0863126 | circumscribed palmoplantar hypokeratosis | GARD:18898 | MONDO:equivalentTo | Circumscribed palmoplantar hypokeratosis | | | -| MONDO:0863127 | warty dyskeratoma | GARD:18899 | MONDO:equivalentTo | Warty dyskeratoma | | | -| MONDO:0863128 | radiation proctitis | GARD:18900 | MONDO:equivalentTo | Radiation proctitis | | | -| MONDO:0863129 | squamous cell carcinoma of the esophagus | GARD:18901 | MONDO:equivalentTo | Squamous cell carcinoma of the esophagus | | | -| MONDO:0863130 | adult acute respiratory distress syndrome | GARD:18902 | MONDO:equivalentTo | Adult acute respiratory distress syndrome | | | -| MONDO:0863131 | congenital epstein-barr virus infection | GARD:18903 | MONDO:equivalentTo | Congenital Epstein-Barr virus infection | | | -| MONDO:0863132 | rare pulmonary hypertension | GARD:18904 | MONDO:equivalentTo | Rare pulmonary hypertension | | | -| MONDO:0863133 | rare hemorrhagic disorder due to a constitutional platelet anomaly | GARD:18905 | MONDO:equivalentTo | Rare hemorrhagic disorder due to a constitutional platelet anomaly | | | -| MONDO:0863134 | autoimmune thrombocytopenia | GARD:18906 | MONDO:equivalentTo | Autoimmune thrombocytopenia | | | -| MONDO:0863135 | rare soft tissue tumor | GARD:18907 | MONDO:equivalentTo | Rare soft tissue tumor | | | -| MONDO:0863136 | retinal capillary malformation | GARD:18908 | MONDO:equivalentTo | Retinal capillary malformation | | | -| MONDO:0863137 | dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome | GARD:18909 | MONDO:equivalentTo | Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome | | | -| MONDO:0863138 | distomatosis | GARD:1891 | MONDO:equivalentTo | Distomatosis | | | -| MONDO:0863139 | silent sinus syndrome | GARD:18910 | MONDO:equivalentTo | Silent sinus syndrome | | | -| MONDO:0863140 | rare central nervous system and retinal vascular disease | GARD:18911 | MONDO:equivalentTo | Rare central nervous system and retinal vascular disease | | | -| MONDO:0863141 | cancer-associated retinopathy | GARD:18912 | MONDO:equivalentTo | Cancer-associated retinopathy | | | -| MONDO:0863142 | benign paroxysmal torticollis of infancy | GARD:18913 | MONDO:equivalentTo | Benign paroxysmal torticollis of infancy | | | -| MONDO:0863143 | psychogenic movement disorders | GARD:18914 | MONDO:equivalentTo | Psychogenic movement disorders | | | -| MONDO:0863144 | rare genetic neurological disorder | GARD:18915 | MONDO:equivalentTo | Rare genetic neurological disorder | | | -| MONDO:0863145 | inherited retinal disorder | GARD:18916 | MONDO:equivalentTo | Inherited retinal disorder | | | -| MONDO:0863146 | muscular channelopathy | GARD:18917 | MONDO:equivalentTo | Muscular channelopathy | | | -| MONDO:0863147 | intractable diarrhea of infancy | GARD:18918 | MONDO:equivalentTo | Intractable diarrhea of infancy | | | -| MONDO:0863148 | global developmental delay-osteopenia-ectodermal defect syndrome | GARD:18919 | MONDO:equivalentTo | Global developmental delay-osteopenia-ectodermal defect syndrome | | | -| MONDO:0863149 | kidney tubulopathy-dilated cardiomyopathy syndrome | GARD:18920 | MONDO:equivalentTo | Kidney tubulopathy-dilated cardiomyopathy syndrome | | | -| MONDO:0863150 | ossification anomalies-psychomotor developmental delay syndrome | GARD:18921 | MONDO:equivalentTo | Ossification anomalies-psychomotor developmental delay syndrome | | | -| MONDO:0863151 | spinal muscular atrophy-dandy-walker malformation-cataracts syndrome | GARD:18922 | MONDO:equivalentTo | Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome | | | -| MONDO:0863152 | visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome | GARD:18923 | MONDO:equivalentTo | Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome | | | -| MONDO:0863153 | myiasis | GARD:18924 | MONDO:equivalentTo | Myiasis | | | -| MONDO:0863154 | oligocone trichromacy | GARD:18925 | MONDO:equivalentTo | Oligocone trichromacy | | | -| MONDO:0863155 | brain malformation-congenital heart disease-postaxial polydactyly syndrome | GARD:18926 | MONDO:equivalentTo | Brain malformation-congenital heart disease-postaxial polydactyly syndrome | | | -| MONDO:0863156 | angioosteohypotrophic syndrome | GARD:18927 | MONDO:equivalentTo | Angioosteohypotrophic syndrome | | | -| MONDO:0863157 | tropical endomyocardial fibrosis | GARD:18928 | MONDO:equivalentTo | Tropical endomyocardial fibrosis | | | -| MONDO:0863158 | loeffler endocarditis | GARD:18929 | MONDO:equivalentTo | Loeffler endocarditis | | | -| MONDO:0863159 | primary progressive freezing gait | GARD:18930 | MONDO:equivalentTo | Primary progressive freezing gait | | | -| MONDO:0863160 | 6q terminal deletion syndrome | GARD:18931 | MONDO:equivalentTo | 6q terminal deletion syndrome | | | -| MONDO:0863161 | primary lymphedema | GARD:18932 | MONDO:equivalentTo | Primary lymphedema | | | -| MONDO:0863162 | auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome | GARD:18933 | MONDO:equivalentTo | Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome | | | -| MONDO:0863163 | monosomy 9q22.3 | GARD:18934 | MONDO:equivalentTo | Monosomy 9q22.3 | | | -| MONDO:0863164 | genetic obesity | GARD:18935 | MONDO:equivalentTo | Genetic obesity | | | -| MONDO:0863165 | rare genetic odontologic disease | GARD:18936 | MONDO:equivalentTo | Rare genetic odontologic disease | | | -| MONDO:0863166 | disorder of amino acid and other organic acid metabolism | GARD:18937 | MONDO:equivalentTo | Disorder of amino acid and other organic acid metabolism | | | -| MONDO:0863167 | folinic acid-responsive seizures | GARD:18938 | MONDO:equivalentTo | Folinic acid-responsive seizures | | | -| MONDO:0863168 | sympathetic ophthalmia | GARD:18939 | MONDO:equivalentTo | Sympathetic ophthalmia | | | -| MONDO:0863169 | von voss-cherstvoy syndrome | GARD:1894 | MONDO:equivalentTo | Von Voss-Cherstvoy syndrome | | | -| MONDO:0863170 | interstitial granulomatous dermatitis with arthritis | GARD:18940 | MONDO:equivalentTo | Interstitial granulomatous dermatitis with arthritis | | | -| MONDO:0863171 | myxofibrosarcoma | GARD:18941 | MONDO:equivalentTo | Myxofibrosarcoma | | | -| MONDO:0863172 | respiratory bronchiolitis-interstitial lung disease syndrome | GARD:18942 | MONDO:equivalentTo | Respiratory bronchiolitis-interstitial lung disease syndrome | | | -| MONDO:0863173 | trichodysplasia-amelogenesis imperfecta syndrome | GARD:18943 | MONDO:equivalentTo | Trichodysplasia-amelogenesis imperfecta syndrome | | | -| MONDO:0863174 | bickerstaff brainstem encephalitis | GARD:18944 | MONDO:equivalentTo | Bickerstaff brainstem encephalitis | | | -| MONDO:0863175 | cerebral organic aciduria | GARD:18945 | MONDO:equivalentTo | Cerebral organic aciduria | | | -| MONDO:0863176 | disorder of carbohydrate metabolism | GARD:18946 | MONDO:equivalentTo | Disorder of carbohydrate metabolism | | | -| MONDO:0863177 | classic organic aciduria | GARD:18947 | MONDO:equivalentTo | Classic organic aciduria | | | -| MONDO:0863178 | disorder of amino acid absorption and transport | GARD:18948 | MONDO:equivalentTo | Disorder of amino acid absorption and transport | | | -| MONDO:0863179 | disorder of bile acid synthesis | GARD:18949 | MONDO:equivalentTo | Disorder of bile acid synthesis | | | -| MONDO:0863180 | disorder of neurotransmitter metabolism and transport | GARD:18950 | MONDO:equivalentTo | Disorder of neurotransmitter metabolism and transport | | | -| MONDO:0863181 | disorder of cobalamin metabolism and transport | GARD:18951 | MONDO:equivalentTo | Disorder of cobalamin metabolism and transport | | | -| MONDO:0863182 | creatine deficiency syndrome | GARD:18952 | MONDO:equivalentTo | Creatine deficiency syndrome | | | -| MONDO:0863183 | disorder of methionine cycle and sulfur amino acid metabolism | GARD:18953 | MONDO:equivalentTo | Disorder of methionine cycle and sulfur amino acid metabolism | | | -| MONDO:0863184 | disorder of fatty acid oxidation and ketone body metabolism | GARD:18954 | MONDO:equivalentTo | Disorder of fatty acid oxidation and ketone body metabolism | | | -| MONDO:0863185 | disorder of gamma-aminobutyric acid metabolism | GARD:18955 | MONDO:equivalentTo | Disorder of gamma-aminobutyric acid metabolism | | | -| MONDO:0863186 | gluconeogenesis disorder | GARD:18956 | MONDO:equivalentTo | Gluconeogenesis disorder | | | -| MONDO:0863187 | glucose transport disorder | GARD:18957 | MONDO:equivalentTo | Glucose transport disorder | | | -| MONDO:0863188 | disorder of glycerol metabolism | GARD:18958 | MONDO:equivalentTo | Disorder of glycerol metabolism | | | -| MONDO:0863189 | disorder of histidine metabolism | GARD:18959 | MONDO:equivalentTo | Disorder of histidine metabolism | | | -| MONDO:0863190 | cleft palate | GARD:1896 | MONDO:equivalentTo | Cleft palate | | | -| MONDO:0863191 | disorder of ketolysis | GARD:18960 | MONDO:equivalentTo | Disorder of ketolysis | | | -| MONDO:0863192 | disorder of ornithine or proline metabolism | GARD:18961 | MONDO:equivalentTo | Disorder of ornithine or proline metabolism | | | -| MONDO:0863193 | disorder of pentose phosphate metabolism | GARD:18962 | MONDO:equivalentTo | Disorder of pentose phosphate metabolism | | | -| MONDO:0863194 | disorder of peptide metabolism | GARD:18963 | MONDO:equivalentTo | Disorder of peptide metabolism | | | -| MONDO:0863195 | disorder of phenylalanin or tyrosine metabolism | GARD:18964 | MONDO:equivalentTo | Disorder of phenylalanin or tyrosine metabolism | | | -| MONDO:0863196 | disorder of purine metabolism | GARD:18965 | MONDO:equivalentTo | Disorder of purine metabolism | | | -| MONDO:0863197 | disorder of pyridoxine metabolism | GARD:18966 | MONDO:equivalentTo | Disorder of pyridoxine metabolism | | | -| MONDO:0863198 | disorder of pyrimidine metabolism | GARD:18967 | MONDO:equivalentTo | Disorder of pyrimidine metabolism | | | -| MONDO:0863199 | disorder of serine or glycine metabolism | GARD:18968 | MONDO:equivalentTo | Disorder of serine or glycine metabolism | | | -| MONDO:0863200 | sterol biosynthesis disorder | GARD:18969 | MONDO:equivalentTo | Sterol biosynthesis disorder | | | -| MONDO:0863201 | disorder of the gamma-glutamyl cycle | GARD:18970 | MONDO:equivalentTo | Disorder of the gamma-glutamyl cycle | | | -| MONDO:0863202 | disorder of branched-chain amino acid metabolism | GARD:18971 | MONDO:equivalentTo | Disorder of branched-chain amino acid metabolism | | | -| MONDO:0863203 | disorder of energy metabolism | GARD:18972 | MONDO:equivalentTo | Disorder of energy metabolism | | | -| MONDO:0863204 | glycogen storage disease | GARD:18973 | MONDO:equivalentTo | Glycogen storage disease | | | -| MONDO:0863205 | disorder of lysosomal amino acid transport | GARD:18974 | MONDO:equivalentTo | Disorder of lysosomal amino acid transport | | | -| MONDO:0863206 | mucolipidosis | GARD:18975 | MONDO:equivalentTo | Mucolipidosis | | | -| MONDO:0863207 | disorder of biogenic amine metabolism and transport | GARD:18976 | MONDO:equivalentTo | Disorder of biogenic amine metabolism and transport | | | -| MONDO:0863208 | oligosaccharidosis | GARD:18977 | MONDO:equivalentTo | Oligosaccharidosis | | | -| MONDO:0863209 | other metabolic disease with skin involvement | GARD:18978 | MONDO:equivalentTo | Other metabolic disease with skin involvement | | | -| MONDO:0863210 | metabolic disease involving other neurotransmitter deficiency | GARD:18979 | MONDO:equivalentTo | Metabolic disease involving other neurotransmitter deficiency | | | -| MONDO:0863211 | early-onset zonular cataract | GARD:1898 | MONDO:equivalentTo | Early-onset zonular cataract | | | -| MONDO:0863212 | disorder of purine or pyrimidine metabolism | GARD:18980 | MONDO:equivalentTo | Disorder of purine or pyrimidine metabolism | | | -| MONDO:0863213 | sterol metabolism disorder | GARD:18981 | MONDO:equivalentTo | Sterol metabolism disorder | | | -| MONDO:0863214 | classic phenylketonuria | GARD:18982 | MONDO:equivalentTo | Classic phenylketonuria | | | -| MONDO:0863215 | diazoxide-resistant focal hyperinsulinism | GARD:18983 | MONDO:equivalentTo | Diazoxide-resistant focal hyperinsulinism | | | -| MONDO:0863216 | epidermal disease | GARD:18984 | MONDO:equivalentTo | Epidermal disease | | | -| MONDO:0863217 | ichthyosis | GARD:18985 | MONDO:equivalentTo | Ichthyosis | | | -| MONDO:0863218 | erythrokeratoderma | GARD:18986 | MONDO:equivalentTo | Erythrokeratoderma | | | -| MONDO:0863219 | acrokeratoderma | GARD:18987 | MONDO:equivalentTo | Acrokeratoderma | | | -| MONDO:0863220 | hereditary palmoplantar keratoderma | GARD:18988 | MONDO:equivalentTo | Hereditary palmoplantar keratoderma | | | -| MONDO:0863221 | porokeratosis | GARD:18989 | MONDO:equivalentTo | Porokeratosis | | | -| MONDO:0863222 | donnai-barrow syndrome | GARD:1899 | MONDO:equivalentTo | Donnai-Barrow syndrome | | | -| MONDO:0863223 | other epidermal disorder | GARD:18990 | MONDO:equivalentTo | Other epidermal disorder | | | -| MONDO:0863224 | other genetic epidermal disease | GARD:18991 | MONDO:equivalentTo | Other genetic epidermal disease | | | -| MONDO:0863225 | inherited epidermolysis bullosa | GARD:18992 | MONDO:equivalentTo | Inherited epidermolysis bullosa | | | -| MONDO:0863226 | epidermal appendage anomaly | GARD:18993 | MONDO:equivalentTo | Epidermal appendage anomaly | | | -| MONDO:0863227 | hair anomaly | GARD:18994 | MONDO:equivalentTo | Hair anomaly | | | -| MONDO:0863228 | alopecia | GARD:18995 | MONDO:equivalentTo | Alopecia | | | -| MONDO:0863229 | rare disorder with hypertrichosis | GARD:18996 | MONDO:equivalentTo | Rare disorder with hypertrichosis | | | -| MONDO:0863230 | isolated hair shaft abnormality | GARD:18997 | MONDO:equivalentTo | Isolated hair shaft abnormality | | | -| MONDO:0863231 | syndromic hair shaft abnormality | GARD:18998 | MONDO:equivalentTo | Syndromic hair shaft abnormality | | | -| MONDO:0863232 | nail anomaly | GARD:18999 | MONDO:equivalentTo | Nail anomaly | | | -| MONDO:0863233 | dihydropyrimidine dehydrogenase deficiency | GARD:19 | MONDO:equivalentTo | Dihydropyrimidine dehydrogenase deficiency | | | -| MONDO:0863234 | isolated nail anomaly | GARD:19000 | MONDO:equivalentTo | Isolated nail anomaly | | | -| MONDO:0863235 | syndromic nail anomaly | GARD:19001 | MONDO:equivalentTo | Syndromic nail anomaly | | | -| MONDO:0863236 | sebaceous gland anomaly | GARD:19002 | MONDO:equivalentTo | Sebaceous gland anomaly | | | -| MONDO:0863237 | pigmentation anomaly of the skin | GARD:19003 | MONDO:equivalentTo | Pigmentation anomaly of the skin | | | -| MONDO:0863238 | hyperpigmentation of the skin | GARD:19004 | MONDO:equivalentTo | Hyperpigmentation of the skin | | | -| MONDO:0863239 | hypopigmentation of the skin | GARD:19005 | MONDO:equivalentTo | Hypopigmentation of the skin | | | -| MONDO:0863240 | dermis disorder | GARD:19006 | MONDO:equivalentTo | Dermis disorder | | | -| MONDO:0863241 | dermis elastic tissue disorder | GARD:19007 | MONDO:equivalentTo | Dermis elastic tissue disorder | | | -| MONDO:0863242 | skin vascular disease | GARD:19008 | MONDO:equivalentTo | Skin vascular disease | | | -| MONDO:0863243 | mixed dermis disorder | GARD:19009 | MONDO:equivalentTo | Mixed dermis disorder | | | -| MONDO:0863244 | other dermis disorder | GARD:19010 | MONDO:equivalentTo | Other dermis disorder | | | -| MONDO:0863245 | subcutaneous tissue disease | GARD:19011 | MONDO:equivalentTo | Subcutaneous tissue disease | | | -| MONDO:0863246 | rare urticaria | GARD:19012 | MONDO:equivalentTo | Rare urticaria | | | -| MONDO:0863247 | unclassified genetic skin disorder | GARD:19013 | MONDO:equivalentTo | Unclassified genetic skin disorder | | | -| MONDO:0863248 | rare skin tumor or hamartoma | GARD:19014 | MONDO:equivalentTo | Rare skin tumor or hamartoma | | | -| MONDO:0863249 | metabolic disease with skin involvement | GARD:19015 | MONDO:equivalentTo | Metabolic disease with skin involvement | | | -| MONDO:0863250 | mucopolysaccharidosis with skin involvement | GARD:19016 | MONDO:equivalentTo | Mucopolysaccharidosis with skin involvement | | | -| MONDO:0863251 | premature aging | GARD:19017 | MONDO:equivalentTo | Premature aging | | | -| MONDO:0863252 | rare photodermatosis | GARD:19018 | MONDO:equivalentTo | Rare photodermatosis | | | -| MONDO:0863253 | immune deficiency with skin involvement | GARD:19019 | MONDO:equivalentTo | Immune deficiency with skin involvement | | | -| MONDO:0863254 | autosomal recessive dopa-responsive dystonia | GARD:1902 | MONDO:equivalentTo | Autosomal recessive dopa-responsive dystonia | | | -| MONDO:0863255 | verrucous nevus | GARD:19020 | MONDO:equivalentTo | Verrucous nevus | | | -| MONDO:0863256 | pemphigus vegetans | GARD:19021 | MONDO:equivalentTo | Pemphigus vegetans | | | -| MONDO:0863257 | pemphigus erythematosus | GARD:19022 | MONDO:equivalentTo | Pemphigus erythematosus | | | -| MONDO:0863258 | phakomatosis cesioflammea | GARD:19023 | MONDO:equivalentTo | Phakomatosis cesioflammea | | | -| MONDO:0863259 | phakomatosis cesiomarmorata | GARD:19024 | MONDO:equivalentTo | Phakomatosis cesiomarmorata | | | -| MONDO:0863260 | phakomatosis spilorosea | GARD:19025 | MONDO:equivalentTo | Phakomatosis spilorosea | | | -| MONDO:0863261 | pili gemini | GARD:19026 | MONDO:equivalentTo | Pili gemini | | | -| MONDO:0863262 | mild hyperphenylalaninemia | GARD:19027 | MONDO:equivalentTo | Mild hyperphenylalaninemia | | | -| MONDO:0863263 | autoimmune bullous skin disease | GARD:19028 | MONDO:equivalentTo | Autoimmune bullous skin disease | | | -| MONDO:0863264 | urogenital tract malformation | GARD:19029 | MONDO:equivalentTo | Urogenital tract malformation | | | -| MONDO:0863265 | dopamine beta-hydroxylase deficiency | GARD:1903 | MONDO:equivalentTo | Dopamine beta-hydroxylase deficiency | | | -| MONDO:0863266 | rickettsialpox | GARD:19030 | MONDO:equivalentTo | Rickettsialpox | | | -| MONDO:0863267 | boutonneuse fever | GARD:19031 | MONDO:equivalentTo | Boutonneuse fever | | | -| MONDO:0863268 | epidemic typhus | GARD:19032 | MONDO:equivalentTo | Epidemic typhus | | | -| MONDO:0863269 | murine typhus | GARD:19033 | MONDO:equivalentTo | Murine typhus | | | -| MONDO:0863270 | pseudotyphus of california | GARD:19034 | MONDO:equivalentTo | Pseudotyphus of California | | | -| MONDO:0863271 | scrub typhus | GARD:19035 | MONDO:equivalentTo | Scrub typhus | | | -| MONDO:0863272 | regional odontodysplasia | GARD:19036 | MONDO:equivalentTo | Regional odontodysplasia | | | -| MONDO:0863273 | vulvovaginal gingival syndrome | GARD:19037 | MONDO:equivalentTo | Vulvovaginal gingival syndrome | | | -| MONDO:0863274 | narcolepsy type 2 | GARD:19038 | MONDO:equivalentTo | Narcolepsy type 2 | | | -| MONDO:0863275 | solitary bone cyst | GARD:19039 | MONDO:equivalentTo | Solitary bone cyst | | | -| MONDO:0863276 | subcortical band heterotopia | GARD:1904 | MONDO:equivalentTo | Subcortical band heterotopia | | | -| MONDO:0863277 | mycoplasma encephalitis | GARD:19040 | MONDO:equivalentTo | Mycoplasma encephalitis | | | -| MONDO:0863278 | st. louis encephalitis | GARD:19041 | MONDO:equivalentTo | St. Louis encephalitis | | | -| MONDO:0863279 | colorado tick fever | GARD:19042 | MONDO:equivalentTo | Colorado tick fever | | | -| MONDO:0863280 | rubella panencephalitis | GARD:19043 | MONDO:equivalentTo | Rubella panencephalitis | | | -| MONDO:0863281 | macrostomia-preauricular tags-external ophthalmoplegia syndrome | GARD:19044 | MONDO:equivalentTo | Macrostomia-preauricular tags-external ophthalmoplegia syndrome | | | -| MONDO:0863282 | lumbar syndrome | GARD:19045 | MONDO:equivalentTo | LUMBAR syndrome | | | -| MONDO:0863283 | idiopathic malabsorption due to bile acid synthesis defects | GARD:19046 | MONDO:equivalentTo | Idiopathic malabsorption due to bile acid synthesis defects | | | -| MONDO:0863284 | hinman syndrome | GARD:19047 | MONDO:equivalentTo | Hinman syndrome | | | -| MONDO:0863285 | collagen type iii glomerulopathy | GARD:19048 | MONDO:equivalentTo | Collagen type III glomerulopathy | | | -| MONDO:0863286 | craniofacial conodysplasia | GARD:19049 | MONDO:equivalentTo | Craniofacial conodysplasia | | | -| MONDO:0863287 | astley-kendall dysplasia | GARD:19050 | MONDO:equivalentTo | Astley-Kendall dysplasia | | | -| MONDO:0863288 | dysspondyloenchondromatosis | GARD:19051 | MONDO:equivalentTo | Dysspondyloenchondromatosis | | | -| MONDO:0863289 | ischiovertebral syndrome | GARD:19052 | MONDO:equivalentTo | Ischiovertebral syndrome | | | -| MONDO:0863290 | x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome | GARD:19053 | MONDO:equivalentTo | X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome | | | -| MONDO:0863291 | x-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome | GARD:19054 | MONDO:equivalentTo | X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome | | | -| MONDO:0863292 | x-linked intellectual disability-macrocephaly-macroorchidism syndrome | GARD:19055 | MONDO:equivalentTo | X-linked intellectual disability-macrocephaly-macroorchidism syndrome | | | -| MONDO:0863293 | x-linked intellectual disability, pai type | GARD:19056 | MONDO:equivalentTo | X-linked intellectual disability, Pai type | | | -| MONDO:0863294 | x-linked intellectual disability, seemanova type | GARD:19057 | MONDO:equivalentTo | X-linked intellectual disability, Seemanova type | | | -| MONDO:0863295 | x-linked intellectual disability, stevenson type | GARD:19058 | MONDO:equivalentTo | X-linked intellectual disability, Stevenson type | | | -| MONDO:0863296 | x-linked intellectual disability, stoll type | GARD:19059 | MONDO:equivalentTo | X-linked intellectual disability, Stoll type | | | -| MONDO:0863297 | x-linked intellectual disability-acromegaly-hyperactivity syndrome | GARD:19060 | MONDO:equivalentTo | X-linked intellectual disability-acromegaly-hyperactivity syndrome | | | -| MONDO:0863298 | x-linked neurodegenerative syndrome, bertini type | GARD:19061 | MONDO:equivalentTo | X-linked neurodegenerative syndrome, Bertini type | | | -| MONDO:0863299 | x-linked neurodegenerative syndrome, hamel type | GARD:19062 | MONDO:equivalentTo | X-linked neurodegenerative syndrome, Hamel type | | | -| MONDO:0863300 | x-linked intellectual disability-ataxia-apraxia syndrome | GARD:19063 | MONDO:equivalentTo | X-linked intellectual disability-ataxia-apraxia syndrome | | | -| MONDO:0863301 | rheumatoid factor-positive polyarticular juvenile idiopathic arthritis | GARD:19064 | MONDO:equivalentTo | Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis | | | -| MONDO:0863302 | wild type abeta2m amyloidosis | GARD:19065 | MONDO:equivalentTo | Wild type ABeta2M amyloidosis | | | -| MONDO:0863303 | atypical lichen myxedematosus | GARD:19066 | MONDO:equivalentTo | Atypical lichen myxedematosus | | | -| MONDO:0863304 | lissencephaly type 3-familial fetal akinesia sequence syndrome | GARD:19067 | MONDO:equivalentTo | Lissencephaly type 3-familial fetal akinesia sequence syndrome | | | -| MONDO:0863305 | lissencephaly with cerebellar hypoplasia | GARD:19068 | MONDO:equivalentTo | Lissencephaly with cerebellar hypoplasia | | | -| MONDO:0863306 | refractory cytopenia with multilineage dysplasia | GARD:19069 | MONDO:equivalentTo | Refractory cytopenia with multilineage dysplasia | | | -| MONDO:0863307 | double outlet left ventricle | GARD:1907 | MONDO:equivalentTo | Double outlet left ventricle | | | -| MONDO:0863308 | refractory anemia with excess blasts | GARD:19070 | MONDO:equivalentTo | Refractory anemia with excess blasts | | | -| MONDO:0863309 | acute basophilic leukemia | GARD:19071 | MONDO:equivalentTo | Acute basophilic leukemia | | | -| MONDO:0863310 | splenic marginal zone lymphoma | GARD:19072 | MONDO:equivalentTo | Splenic marginal zone lymphoma | | | -| MONDO:0863311 | non-amyloid monoclonal immunoglobulin deposition disease | GARD:19073 | MONDO:equivalentTo | Non-amyloid monoclonal immunoglobulin deposition disease | | | -| MONDO:0863312 | heavy chain disease | GARD:19074 | MONDO:equivalentTo | Heavy chain disease | | | -| MONDO:0863313 | nodal marginal zone b-cell lymphoma | GARD:19075 | MONDO:equivalentTo | Nodal marginal zone B-cell lymphoma | | | -| MONDO:0863314 | adult t-cell leukemia/lymphoma | GARD:19076 | MONDO:equivalentTo | Adult T-cell leukemia/lymphoma | | | -| MONDO:0863315 | hepatosplenic t-cell lymphoma | GARD:19077 | MONDO:equivalentTo | Hepatosplenic T-cell lymphoma | | | -| MONDO:0863316 | primary cutaneous peripheral t-cell lymphoma not otherwise specified | GARD:19078 | MONDO:equivalentTo | Primary cutaneous peripheral T-cell lymphoma not otherwise specified | | | -| MONDO:0863317 | nodular lymphocyte predominant hodgkin lymphoma | GARD:19079 | MONDO:equivalentTo | Nodular lymphocyte predominant Hodgkin lymphoma | | | -| MONDO:0863318 | double outlet right ventricle | GARD:1908 | MONDO:equivalentTo | Double outlet right ventricle | | | -| MONDO:0863319 | histiocytic sarcoma | GARD:19080 | MONDO:equivalentTo | Histiocytic sarcoma | | | -| MONDO:0863320 | follicular dendritic cell sarcoma | GARD:19081 | MONDO:equivalentTo | Follicular dendritic cell sarcoma | | | -| MONDO:0863321 | dendritic cell sarcoma not otherwise specified | GARD:19082 | MONDO:equivalentTo | Dendritic cell sarcoma not otherwise specified | | | -| MONDO:0863322 | methotrexate-associated lymphoproliferative disorders | GARD:19083 | MONDO:equivalentTo | Methotrexate-associated lymphoproliferative disorders | | | -| MONDO:0863323 | hypothalamic hamartomas with gelastic seizures | GARD:19084 | MONDO:equivalentTo | Hypothalamic hamartomas with gelastic seizures | | | -| MONDO:0863324 | idiopathic hemiconvulsion-hemiplegia syndrome | GARD:19085 | MONDO:equivalentTo | Idiopathic hemiconvulsion-hemiplegia syndrome | | | -| MONDO:0863325 | myoclonic epilepsy of infancy | GARD:19086 | MONDO:equivalentTo | Myoclonic epilepsy of infancy | | | -| MONDO:0863326 | epilepsy with myoclonic absences | GARD:19087 | MONDO:equivalentTo | Epilepsy with myoclonic absences | | | -| MONDO:0863327 | myoclonic epilepsy in non-progressive encephalopathies | GARD:19088 | MONDO:equivalentTo | Myoclonic epilepsy in non-progressive encephalopathies | | | -| MONDO:0863328 | diffuse palmoplantar keratoderma-acrocyanosis syndrome | GARD:19089 | MONDO:equivalentTo | Diffuse palmoplantar keratoderma-acrocyanosis syndrome | | | -| MONDO:0863329 | rare intellectual disability | GARD:19090 | MONDO:equivalentTo | Rare intellectual disability | | | -| MONDO:0863330 | non-syndromic genetic deafness | GARD:19091 | MONDO:equivalentTo | Non-syndromic genetic deafness | | | -| MONDO:0863331 | obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome | GARD:19092 | MONDO:equivalentTo | Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome | | | -| MONDO:0863332 | hypertension due to gain-of-function mutations in the mineralocorticoid receptor | GARD:19093 | MONDO:equivalentTo | Hypertension due to gain-of-function mutations in the mineralocorticoid receptor | | | -| MONDO:0863333 | rare congenital non-syndromic heart malformation | GARD:19094 | MONDO:equivalentTo | Rare congenital non-syndromic heart malformation | | | -| MONDO:0863334 | esophageal malformation | GARD:19095 | MONDO:equivalentTo | Esophageal malformation | | | -| MONDO:0863335 | rare dementia | GARD:19096 | MONDO:equivalentTo | Rare dementia | | | -| MONDO:0863336 | undifferentiated connective tissue syndrome | GARD:19097 | MONDO:equivalentTo | Undifferentiated connective tissue syndrome | | | -| MONDO:0863337 | inflammatory pseudotumor of the liver | GARD:19098 | MONDO:equivalentTo | Inflammatory pseudotumor of the liver | | | -| MONDO:0863338 | radiation myelitis | GARD:19099 | MONDO:equivalentTo | Radiation myelitis | | | -| MONDO:0863339 | double uterus-hemivagina-renal agenesis syndrome | GARD:1910 | MONDO:equivalentTo | Double uterus-hemivagina-renal agenesis syndrome | | | -| MONDO:0863340 | non-syndromic syndactyly | GARD:19100 | MONDO:equivalentTo | Non-syndromic syndactyly | | | -| MONDO:0863341 | mixed-type autoimmune hemolytic anemia | GARD:19101 | MONDO:equivalentTo | Mixed-type autoimmune hemolytic anemia | | | -| MONDO:0863342 | drug-induced autoimmune hemolytic anemia | GARD:19102 | MONDO:equivalentTo | Drug-induced autoimmune hemolytic anemia | | | -| MONDO:0863343 | hemoglobin d disease | GARD:19103 | MONDO:equivalentTo | Hemoglobin D disease | | | -| MONDO:0863344 | gaisböck syndrome | GARD:19104 | MONDO:equivalentTo | Gaisböck syndrome | | | -| MONDO:0863345 | sepsis in premature infants | GARD:19105 | MONDO:equivalentTo | Sepsis in premature infants | | | -| MONDO:0863346 | recurrent hepatitis c virus induced liver disease in liver transplant recipients | GARD:19106 | MONDO:equivalentTo | Recurrent hepatitis C virus induced liver disease in liver transplant recipients | | | -| MONDO:0863347 | complications after hematopoietic stem cell transplantation | GARD:19107 | MONDO:equivalentTo | Complications after hematopoietic stem cell transplantation | | | -| MONDO:0863348 | moderate and severe traumatic brain injury | GARD:19108 | MONDO:equivalentTo | Moderate and severe traumatic brain injury | | | -| MONDO:0863349 | spinal cord injury | GARD:19109 | MONDO:equivalentTo | Spinal cord injury | | | -| MONDO:0863350 | diffuse alveolar hemorrhage | GARD:19110 | MONDO:equivalentTo | Diffuse alveolar hemorrhage | | | -| MONDO:0863351 | non-infectious posterior uveitis | GARD:19111 | MONDO:equivalentTo | Non-infectious posterior uveitis | | | -| MONDO:0863352 | acute liver failure | GARD:19112 | MONDO:equivalentTo | Acute liver failure | | | -| MONDO:0863353 | acute peripheral arterial occlusion | GARD:19113 | MONDO:equivalentTo | Acute peripheral arterial occlusion | | | -| MONDO:0863354 | acquired aneurysmal subarachnoid hemorrhage | GARD:19114 | MONDO:equivalentTo | Acquired aneurysmal subarachnoid hemorrhage | | | -| MONDO:0863355 | cocaine intoxication | GARD:19115 | MONDO:equivalentTo | Cocaine intoxication | | | -| MONDO:0863356 | systemic monochloroacetate poisoning | GARD:19116 | MONDO:equivalentTo | Systemic monochloroacetate poisoning | | | -| MONDO:0863357 | hepatitis b reinfection following liver transplantation | GARD:19117 | MONDO:equivalentTo | Hepatitis B reinfection following liver transplantation | | | -| MONDO:0863358 | partial deep dermal and full thickness burns | GARD:19118 | MONDO:equivalentTo | Partial deep dermal and full thickness burns | | | -| MONDO:0863359 | other acquired skin disease | GARD:19119 | MONDO:equivalentTo | Other acquired skin disease | | | -| MONDO:0863360 | familial drusen | GARD:1912 | MONDO:equivalentTo | Familial drusen | | | -| MONDO:0863361 | invasive infections due to vancomycin-resistant enterococci | GARD:19120 | MONDO:equivalentTo | Invasive infections due to vancomycin-resistant enterococci | | | -| MONDO:0863362 | scarring in glaucoma filtration surgical procedures | GARD:19121 | MONDO:equivalentTo | Scarring in glaucoma filtration surgical procedures | | | -| MONDO:0863363 | aids wasting syndrome | GARD:19122 | MONDO:equivalentTo | AIDS wasting syndrome | | | -| MONDO:0863364 | severe early-onset axonal neuropathy due to mfn2 deficiency | GARD:19123 | MONDO:equivalentTo | Severe early-onset axonal neuropathy due to MFN2 deficiency | | | -| MONDO:0863365 | hereditary motor and sensory neuropathy with acrodystrophy | GARD:19124 | MONDO:equivalentTo | Hereditary motor and sensory neuropathy with acrodystrophy | | | -| MONDO:0863366 | centrifugal lipodystrophy | GARD:19125 | MONDO:equivalentTo | Centrifugal lipodystrophy | | | -| MONDO:0863367 | drug-induced localized lipodystrophy | GARD:19126 | MONDO:equivalentTo | Drug-induced localized lipodystrophy | | | -| MONDO:0863368 | idiopathic localized lipodystrophy | GARD:19127 | MONDO:equivalentTo | Idiopathic localized lipodystrophy | | | -| MONDO:0863369 | panniculitis-induced localized lipodystrophy | GARD:19128 | MONDO:equivalentTo | Panniculitis-induced localized lipodystrophy | | | -| MONDO:0863370 | pressure-induced localized lipoatrophy | GARD:19129 | MONDO:equivalentTo | Pressure-induced localized lipoatrophy | | | -| MONDO:0863371 | chilblain lupus | GARD:19130 | MONDO:equivalentTo | Chilblain lupus | | | -| MONDO:0863372 | discoid lupus erythematosus | GARD:19131 | MONDO:equivalentTo | Discoid lupus erythematosus | | | -| MONDO:0863373 | hypertrophic or verrucous lupus erythematosus | GARD:19132 | MONDO:equivalentTo | Hypertrophic or verrucous lupus erythematosus | | | -| MONDO:0863374 | lupus erythematosus panniculitis | GARD:19133 | MONDO:equivalentTo | Lupus erythematosus panniculitis | | | -| MONDO:0863375 | autosomal recessive cutis laxa type 2 | GARD:19134 | MONDO:equivalentTo | Autosomal recessive cutis laxa type 2 | | | -| MONDO:0863376 | secondary intestinal lymphangiectasia | GARD:19135 | MONDO:equivalentTo | Secondary intestinal lymphangiectasia | | | -| MONDO:0863377 | telangiectasia macularis eruptiva perstans | GARD:19136 | MONDO:equivalentTo | Telangiectasia macularis eruptiva perstans | | | -| MONDO:0863378 | nodular lichen myxedematosus | GARD:19137 | MONDO:equivalentTo | Nodular lichen myxedematosus | | | -| MONDO:0863379 | discrete papular lichen myxedematosus | GARD:19138 | MONDO:equivalentTo | Discrete papular lichen myxedematosus | | | -| MONDO:0863380 | papular mucinosis of infancy | GARD:19139 | MONDO:equivalentTo | Papular mucinosis of infancy | | | -| MONDO:0863381 | acral persistent papular mucinosis | GARD:19140 | MONDO:equivalentTo | Acral persistent papular mucinosis | | | -| MONDO:0863382 | self-healing papular mucinosis | GARD:19141 | MONDO:equivalentTo | Self-healing papular mucinosis | | | -| MONDO:0863383 | localized lichen myxedematosus with mixed features of different subtypes | GARD:19142 | MONDO:equivalentTo | Localized lichen myxedematosus with mixed features of different subtypes | | | -| MONDO:0863384 | localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms | GARD:19143 | MONDO:equivalentTo | Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms | | | -| MONDO:0863385 | scleromyxedema without monoclonal gammopathy | GARD:19144 | MONDO:equivalentTo | Scleromyxedema without monoclonal gammopathy | | | -| MONDO:0863386 | syndromic genetic deafness | GARD:19145 | MONDO:equivalentTo | Syndromic genetic deafness | | | -| MONDO:0863387 | rare endocrine growth disease | GARD:19146 | MONDO:equivalentTo | Rare endocrine growth disease | | | -| MONDO:0863388 | disorder of sex development | GARD:19147 | MONDO:equivalentTo | Disorder of sex development | | | -| MONDO:0863389 | 46,xx disorder of sex development induced by fetal androgens excess | GARD:19148 | MONDO:equivalentTo | 46,XX disorder of sex development induced by fetal androgens excess | | | -| MONDO:0863390 | 46,xy disorder of sex development due to a testosterone synthesis defect | GARD:19149 | MONDO:equivalentTo | 46,XY disorder of sex development due to a testosterone synthesis defect | | | -| MONDO:0863391 | 46,xy disorder of sex development due to adrenal and testicular steroidogenesis defect | GARD:19150 | MONDO:equivalentTo | 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect | | | -| MONDO:0863392 | 46,xy disorder of sex development due to testicular steroidogenesis defect | GARD:19151 | MONDO:equivalentTo | 46,XY disorder of sex development due to testicular steroidogenesis defect | | | -| MONDO:0863393 | other metabolic disease | GARD:19152 | MONDO:equivalentTo | Other metabolic disease | | | -| MONDO:0863394 | adenovirus infection in immunocompromised patients | GARD:19153 | MONDO:equivalentTo | Adenovirus infection in immunocompromised patients | | | -| MONDO:0863395 | acquired monoclonal ig light chain-associated fanconi syndrome | GARD:19154 | MONDO:equivalentTo | Acquired monoclonal Ig light chain-associated Fanconi syndrome | | | -| MONDO:0863396 | unspecified juvenile idiopathic arthritis | GARD:19155 | MONDO:equivalentTo | Unspecified juvenile idiopathic arthritis | | | -| MONDO:0863397 | 46,xx disorder of sex development induced by maternal-derived androgen | GARD:19156 | MONDO:equivalentTo | 46,XX disorder of sex development induced by maternal-derived androgen | | | -| MONDO:0863398 | tsh-secreting pituitary adenoma | GARD:19157 | MONDO:equivalentTo | TSH-secreting pituitary adenoma | | | -| MONDO:0863399 | functioning gonadotropic adenoma | GARD:19158 | MONDO:equivalentTo | Functioning gonadotropic adenoma | | | -| MONDO:0863400 | non-functioning pituitary adenoma | GARD:19159 | MONDO:equivalentTo | Non-functioning pituitary adenoma | | | -| MONDO:0863401 | pituitary deficiency due to rathke cleft cysts | GARD:19160 | MONDO:equivalentTo | Pituitary deficiency due to Rathke cleft cysts | | | -| MONDO:0863402 | pituitary dermoid and epidermoid cysts | GARD:19161 | MONDO:equivalentTo | Pituitary dermoid and epidermoid cysts | | | -| MONDO:0863403 | germinoma of the central nervous system | GARD:19162 | MONDO:equivalentTo | Germinoma of the central nervous system | | | -| MONDO:0863404 | pituitary deficiency due to empty sella turcica syndrome | GARD:19163 | MONDO:equivalentTo | Pituitary deficiency due to empty sella turcica syndrome | | | -| MONDO:0863405 | duplication of the esophagus | GARD:19164 | MONDO:equivalentTo | Duplication of the esophagus | | | -| MONDO:0863406 | congenital esophageal diverticulum | GARD:19165 | MONDO:equivalentTo | Congenital esophageal diverticulum | | | -| MONDO:0863407 | chronic pneumonitis of infancy | GARD:19166 | MONDO:equivalentTo | Chronic pneumonitis of infancy | | | -| MONDO:0863408 | non-specific interstitial pneumonia | GARD:19167 | MONDO:equivalentTo | Non-specific interstitial pneumonia | | | -| MONDO:0863409 | isolated ankyloblepharon filiforme adnatum | GARD:19168 | MONDO:equivalentTo | Isolated ankyloblepharon filiforme adnatum | | | -| MONDO:0863410 | congenital ectropion uveae | GARD:19169 | MONDO:equivalentTo | Congenital ectropion uveae | | | -| MONDO:0863411 | dermatitis herpetiformis | GARD:1917 | MONDO:equivalentTo | Dermatitis herpetiformis | | | -| MONDO:0863412 | lyme disease | GARD:19170 | MONDO:equivalentTo | Lyme disease | | | -| MONDO:0863413 | relapsing fever | GARD:19171 | MONDO:equivalentTo | Relapsing fever | | | -| MONDO:0863414 | renal hypoplasia | GARD:19172 | MONDO:equivalentTo | Renal hypoplasia | | | -| MONDO:0863415 | renal dysplasia | GARD:19173 | MONDO:equivalentTo | Renal dysplasia | | | -| MONDO:0863416 | congenital megacalycosis | GARD:19174 | MONDO:equivalentTo | Congenital megacalycosis | | | -| MONDO:0863417 | pauci-immune glomerulonephritis | GARD:19175 | MONDO:equivalentTo | Pauci-immune glomerulonephritis | | | -| MONDO:0863418 | transient pseudohypoaldosteronism | GARD:19176 | MONDO:equivalentTo | Transient pseudohypoaldosteronism | | | -| MONDO:0863419 | renal dysplasia, unilateral | GARD:19177 | MONDO:equivalentTo | Renal dysplasia, unilateral | | | -| MONDO:0863420 | renal dysplasia, bilateral | GARD:19178 | MONDO:equivalentTo | Renal dysplasia, bilateral | | | -| MONDO:0863421 | unilateral congenital megacalycosis | GARD:19179 | MONDO:equivalentTo | Unilateral congenital megacalycosis | | | -| MONDO:0863422 | congenital bilateral megacalycosis | GARD:19180 | MONDO:equivalentTo | Congenital bilateral megacalycosis | | | -| MONDO:0863423 | monostotic fibrous dysplasia | GARD:19181 | MONDO:equivalentTo | Monostotic fibrous dysplasia | | | -| MONDO:0863424 | ulnar hemimelia | GARD:19182 | MONDO:equivalentTo | Ulnar hemimelia | | | -| MONDO:0863425 | juvenile sialidosis type 2 | GARD:19183 | MONDO:equivalentTo | Juvenile sialidosis type 2 | | | -| MONDO:0863426 | congenital sialidosis type 2 | GARD:19184 | MONDO:equivalentTo | Congenital sialidosis type 2 | | | -| MONDO:0863427 | fgfr3-related chondrodysplasia | GARD:19185 | MONDO:equivalentTo | FGFR3-related chondrodysplasia | | | -| MONDO:0863428 | type 2 collagen-related bone disorder | GARD:19186 | MONDO:equivalentTo | Type 2 collagen-related bone disorder | | | -| MONDO:0863429 | type 11 collagen-related bone disorder | GARD:19187 | MONDO:equivalentTo | Type 11 collagen-related bone disorder | | | -| MONDO:0863430 | sulfation-related bone disorder | GARD:19188 | MONDO:equivalentTo | Sulfation-related bone disorder | | | -| MONDO:0863431 | perlecan-related bone disorder | GARD:19189 | MONDO:equivalentTo | Perlecan-related bone disorder | | | -| MONDO:0863432 | filamin-related bone disorder | GARD:19190 | MONDO:equivalentTo | Filamin-related bone disorder | | | -| MONDO:0863433 | multiple epiphyseal dysplasia and pseudoachondroplasia | GARD:19191 | MONDO:equivalentTo | Multiple epiphyseal dysplasia and pseudoachondroplasia | | | -| MONDO:0863434 | multiple metaphyseal dysplasia | GARD:19192 | MONDO:equivalentTo | Multiple metaphyseal dysplasia | | | -| MONDO:0863435 | spondylodysplastic dysplasia | GARD:19193 | MONDO:equivalentTo | Spondylodysplastic dysplasia | | | -| MONDO:0863436 | acromelic dysplasia | GARD:19194 | MONDO:equivalentTo | Acromelic dysplasia | | | -| MONDO:0863437 | mesomelic and rhizo-mesomelic dysplasia | GARD:19195 | MONDO:equivalentTo | Mesomelic and rhizo-mesomelic dysplasia | | | -| MONDO:0863438 | campomelic dysplasia and related disorders | GARD:19196 | MONDO:equivalentTo | Campomelic dysplasia and related disorders | | | -| MONDO:0863439 | slender bone dysplasia | GARD:19197 | MONDO:equivalentTo | Slender bone dysplasia | | | -| MONDO:0863440 | primary bone dysplasia with multiple joint dislocations | GARD:19198 | MONDO:equivalentTo | Primary bone dysplasia with multiple joint dislocations | | | -| MONDO:0863441 | neonatal osteosclerotic dysplasia | GARD:19199 | MONDO:equivalentTo | Neonatal osteosclerotic dysplasia | | | -| MONDO:0863442 | cataract-intellectual disability-anal atresia-urinary defects syndrome | GARD:192 | MONDO:equivalentTo | Cataract-intellectual disability-anal atresia-urinary defects syndrome | | | -| MONDO:0863443 | primary bone dysplasia with increased bone density | GARD:19200 | MONDO:equivalentTo | Primary bone dysplasia with increased bone density | | | -| MONDO:0863444 | primary bone dysplasia with decreased bone density | GARD:19201 | MONDO:equivalentTo | Primary bone dysplasia with decreased bone density | | | -| MONDO:0863445 | primary bone dysplasia with defective bone mineralization | GARD:19202 | MONDO:equivalentTo | Primary bone dysplasia with defective bone mineralization | | | -| MONDO:0863446 | lysosomal storage disease with skeletal involvement | GARD:19203 | MONDO:equivalentTo | Lysosomal storage disease with skeletal involvement | | | -| MONDO:0863447 | primary osteolysis | GARD:19204 | MONDO:equivalentTo | Primary osteolysis | | | -| MONDO:0863448 | primary bone dysplasia with disorganized development of skeletal components | GARD:19205 | MONDO:equivalentTo | Primary bone dysplasia with disorganized development of skeletal components | | | -| MONDO:0863449 | cleidocranial dysplasia and isolated cranial ossification defect | GARD:19206 | MONDO:equivalentTo | Cleidocranial dysplasia and isolated cranial ossification defect | | | -| MONDO:0863450 | dysostosis with predominant craniofacial involvement | GARD:19207 | MONDO:equivalentTo | Dysostosis with predominant craniofacial involvement | | | -| MONDO:0863451 | dysostosis with predominant vertebral and costal involvement | GARD:19208 | MONDO:equivalentTo | Dysostosis with predominant vertebral and costal involvement | | | -| MONDO:0863452 | patellar dysostosis | GARD:19209 | MONDO:equivalentTo | Patellar dysostosis | | | -| MONDO:0863453 | non-syndromic limb reduction defect | GARD:19210 | MONDO:equivalentTo | Non-syndromic limb reduction defect | | | -| MONDO:0863454 | non-syndromic polydactyly, syndactyly and/or hyperphalangy | GARD:19211 | MONDO:equivalentTo | Non-syndromic polydactyly, syndactyly and/or hyperphalangy | | | -| MONDO:0863455 | syndrome with synostosis or other joint formation defect | GARD:19212 | MONDO:equivalentTo | Syndrome with synostosis or other joint formation defect | | | -| MONDO:0863456 | overgrowth syndrome | GARD:19213 | MONDO:equivalentTo | Overgrowth syndrome | | | -| MONDO:0863457 | chromosomal disease with overgrowth | GARD:19214 | MONDO:equivalentTo | Chromosomal disease with overgrowth | | | -| MONDO:0863458 | lethal chondrodysplasia | GARD:19215 | MONDO:equivalentTo | Lethal chondrodysplasia | | | -| MONDO:0863459 | renal or urinary tract malformation | GARD:19216 | MONDO:equivalentTo | Renal or urinary tract malformation | | | -| MONDO:0863460 | non-syndromic renal or urinary tract malformation | GARD:19217 | MONDO:equivalentTo | Non-syndromic renal or urinary tract malformation | | | -| MONDO:0863461 | syndromic renal or urinary tract malformation | GARD:19218 | MONDO:equivalentTo | Syndromic renal or urinary tract malformation | | | -| MONDO:0863462 | pediatric systemic lupus erythematosus | GARD:19219 | MONDO:equivalentTo | Pediatric systemic lupus erythematosus | | | -| MONDO:0863463 | mixed cryoglobulinemia type ii | GARD:19220 | MONDO:equivalentTo | Mixed cryoglobulinemia type II | | | -| MONDO:0863464 | mixed cryoglobulinemia type iii | GARD:19221 | MONDO:equivalentTo | Mixed cryoglobulinemia type III | | | -| MONDO:0863465 | heavy chain deposition disease | GARD:19222 | MONDO:equivalentTo | Heavy chain deposition disease | | | -| MONDO:0863466 | light and heavy chain deposition disease | GARD:19223 | MONDO:equivalentTo | Light and heavy chain deposition disease | | | -| MONDO:0863467 | aapoai amyloidosis | GARD:19224 | MONDO:equivalentTo | AApoAI amyloidosis | | | -| MONDO:0863468 | alys amyloidosis | GARD:19225 | MONDO:equivalentTo | ALys amyloidosis | | | -| MONDO:0863469 | afib amyloidosis | GARD:19226 | MONDO:equivalentTo | AFib amyloidosis | | | -| MONDO:0863470 | thrombotic microangiopathy | GARD:19227 | MONDO:equivalentTo | Thrombotic microangiopathy | | | -| MONDO:0863471 | genetic cystic renal disease | GARD:19228 | MONDO:equivalentTo | Genetic cystic renal disease | | | -| MONDO:0863472 | nephropathy secondary to a storage or other metabolic disease | GARD:19229 | MONDO:equivalentTo | Nephropathy secondary to a storage or other metabolic disease | | | -| MONDO:0863473 | rare renal tubular disease | GARD:19230 | MONDO:equivalentTo | Rare renal tubular disease | | | -| MONDO:0863474 | hematological disorder with renal involvement | GARD:19231 | MONDO:equivalentTo | Hematological disorder with renal involvement | | | -| MONDO:0863475 | rare cause of hypertension | GARD:19232 | MONDO:equivalentTo | Rare cause of hypertension | | | -| MONDO:0863476 | rare renal tumor | GARD:19233 | MONDO:equivalentTo | Rare renal tumor | | | -| MONDO:0863477 | autoinflammatory syndrome | GARD:19234 | MONDO:equivalentTo | Autoinflammatory syndrome | | | -| MONDO:0863478 | isolated epispadias | GARD:19235 | MONDO:equivalentTo | Isolated epispadias | | | -| MONDO:0863479 | laryngotracheoesophageal cleft type 1 | GARD:19236 | MONDO:equivalentTo | Laryngotracheoesophageal cleft type 1 | | | -| MONDO:0863480 | laryngotracheoesophageal cleft type 2 | GARD:19237 | MONDO:equivalentTo | Laryngotracheoesophageal cleft type 2 | | | -| MONDO:0863481 | laryngotracheoesophageal cleft type 4 | GARD:19238 | MONDO:equivalentTo | Laryngotracheoesophageal cleft type 4 | | | -| MONDO:0863482 | x-linked intellectual disability, porteous type | GARD:19239 | MONDO:equivalentTo | X-linked intellectual disability, Porteous type | | | -| MONDO:0863483 | hamel cerebro-palato-cardiac syndrome | GARD:19240 | MONDO:equivalentTo | Hamel cerebro-palato-cardiac syndrome | | | -| MONDO:0863484 | x-linked intellectual disability, golabi-ito-hall type | GARD:19241 | MONDO:equivalentTo | X-linked intellectual disability, Golabi-Ito-Hall type | | | -| MONDO:0863485 | x-linked intellectual disability, sutherland-haan type | GARD:19242 | MONDO:equivalentTo | X-linked intellectual disability, Sutherland-Haan type | | | -| MONDO:0863486 | oromandibular dystonia | GARD:19243 | MONDO:equivalentTo | Oromandibular dystonia | | | -| MONDO:0863487 | humero-ulnar synostosis | GARD:19244 | MONDO:equivalentTo | Humero-ulnar synostosis | | | -| MONDO:0863488 | neovascular glaucoma | GARD:19245 | MONDO:equivalentTo | Neovascular glaucoma | | | -| MONDO:0863489 | uremic pruritus | GARD:19246 | MONDO:equivalentTo | Uremic pruritus | | | -| MONDO:0863490 | severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia | GARD:19247 | MONDO:equivalentTo | Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia | | | -| MONDO:0863491 | non-functioning paraganglioma | GARD:19248 | MONDO:equivalentTo | Non-functioning paraganglioma | | | -| MONDO:0863492 | cytophagic histiocytic panniculitis | GARD:19249 | MONDO:equivalentTo | Cytophagic histiocytic panniculitis | | | -| MONDO:0863493 | mills syndrome | GARD:19250 | MONDO:equivalentTo | Mills syndrome | | | -| MONDO:0863494 | recessive mitochondrial ataxia syndrome | GARD:19251 | MONDO:equivalentTo | Recessive mitochondrial ataxia syndrome | | | -| MONDO:0863495 | autosomal dominant cerebellar ataxia type i | GARD:19252 | MONDO:equivalentTo | Autosomal dominant cerebellar ataxia type I | | | -| MONDO:0863496 | autosomal dominant cerebellar ataxia type iii | GARD:19253 | MONDO:equivalentTo | Autosomal dominant cerebellar ataxia type III | | | -| MONDO:0863497 | autosomal dominant cerebellar ataxia type iv | GARD:19254 | MONDO:equivalentTo | Autosomal dominant cerebellar ataxia type IV | | | -| MONDO:0863498 | acute hepatic porphyria | GARD:19255 | MONDO:equivalentTo | Acute hepatic porphyria | | | -| MONDO:0863499 | chronic hepatic porphyria | GARD:19256 | MONDO:equivalentTo | Chronic hepatic porphyria | | | -| MONDO:0863500 | acute adrenal insufficiency | GARD:19257 | MONDO:equivalentTo | Acute adrenal insufficiency | | | -| MONDO:0863501 | secondary short bowel syndrome | GARD:19258 | MONDO:equivalentTo | Secondary short bowel syndrome | | | -| MONDO:0863502 | mesocardia | GARD:19259 | MONDO:equivalentTo | Mesocardia | | | -| MONDO:0863503 | congenital aortic valve atresia | GARD:19260 | MONDO:equivalentTo | Congenital aortic valve atresia | | | -| MONDO:0863504 | tricuspid valve agenesis | GARD:19261 | MONDO:equivalentTo | Tricuspid valve agenesis | | | -| MONDO:0863505 | congenital tricuspid stenosis | GARD:19262 | MONDO:equivalentTo | Congenital tricuspid stenosis | | | -| MONDO:0863506 | straddling or overriding tricuspid valve | GARD:19263 | MONDO:equivalentTo | Straddling or overriding tricuspid valve | | | -| MONDO:0863507 | accessory tricuspid valve tissue | GARD:19264 | MONDO:equivalentTo | Accessory tricuspid valve tissue | | | -| MONDO:0863508 | anomaly of the tricuspid subvalvular apparatus | GARD:19265 | MONDO:equivalentTo | Anomaly of the tricuspid subvalvular apparatus | | | -| MONDO:0863509 | congenital mitral valve insufficiency and/or stenosis | GARD:19266 | MONDO:equivalentTo | Congenital mitral valve insufficiency and/or stenosis | | | -| MONDO:0863510 | cleft mitral valve | GARD:19267 | MONDO:equivalentTo | Cleft mitral valve | | | -| MONDO:0863511 | double-orifice mitral valve | GARD:19268 | MONDO:equivalentTo | Double-orifice mitral valve | | | -| MONDO:0863512 | univentricular cardiopathy | GARD:19269 | MONDO:equivalentTo | Univentricular cardiopathy | | | -| MONDO:0863513 | arterial duct anomaly | GARD:19270 | MONDO:equivalentTo | Arterial duct anomaly | | | -| MONDO:0863514 | premature closure of the arterial duct | GARD:19271 | MONDO:equivalentTo | Premature closure of the arterial duct | | | -| MONDO:0863515 | non-acquired pituitary hormone deficiency | GARD:19272 | MONDO:equivalentTo | Non-acquired pituitary hormone deficiency | | | -| MONDO:0863516 | congenital coronary artery aneurysm | GARD:19273 | MONDO:equivalentTo | Congenital coronary artery aneurysm | | | -| MONDO:0863517 | disease associated with non-acquired combined pituitary hormone deficiency | GARD:19274 | MONDO:equivalentTo | Disease associated with non-acquired combined pituitary hormone deficiency | | | -| MONDO:0863518 | congenital anomaly of superior vena cava | GARD:19275 | MONDO:equivalentTo | Congenital anomaly of superior vena cava | | | -| MONDO:0863519 | congenital anomaly of the inferior vena cava | GARD:19276 | MONDO:equivalentTo | Congenital anomaly of the inferior vena cava | | | -| MONDO:0863520 | congenital anomaly of the coronary sinus | GARD:19277 | MONDO:equivalentTo | Congenital anomaly of the coronary sinus | | | -| MONDO:0863521 | acquired pituitary hormone deficiency | GARD:19278 | MONDO:equivalentTo | Acquired pituitary hormone deficiency | | | -| MONDO:0863522 | pituitary hormone deficiency of tumoral origin | GARD:19279 | MONDO:equivalentTo | Pituitary hormone deficiency of tumoral origin | | | -| MONDO:0863523 | pituitary hormone deficiency of meningeal origin | GARD:19280 | MONDO:equivalentTo | Pituitary hormone deficiency of meningeal origin | | | -| MONDO:0863524 | primary hypophysitis | GARD:19281 | MONDO:equivalentTo | Primary hypophysitis | | | -| MONDO:0863525 | congenital anomaly of hepatic vein | GARD:19282 | MONDO:equivalentTo | Congenital anomaly of hepatic vein | | | -| MONDO:0863526 | atrial appendage anomaly | GARD:19283 | MONDO:equivalentTo | Atrial appendage anomaly | | | -| MONDO:0863527 | adenohypophysitis | GARD:19284 | MONDO:equivalentTo | Adenohypophysitis | | | -| MONDO:0863528 | panhypophysitis | GARD:19285 | MONDO:equivalentTo | Panhypophysitis | | | -| MONDO:0863529 | pituitary hormone deficiency of vascular origin | GARD:19286 | MONDO:equivalentTo | Pituitary hormone deficiency of vascular origin | | | -| MONDO:0863530 | pituitary apoplexy | GARD:19287 | MONDO:equivalentTo | Pituitary apoplexy | | | -| MONDO:0863531 | pituitary hormone deficiency secondary to a granulomatous disease | GARD:19288 | MONDO:equivalentTo | Pituitary hormone deficiency secondary to a granulomatous disease | | | -| MONDO:0863532 | pituitary hormone deficiency secondary to storage disease | GARD:19289 | MONDO:equivalentTo | Pituitary hormone deficiency secondary to storage disease | | | -| MONDO:0863533 | post-traumatic pituitary deficiency | GARD:19290 | MONDO:equivalentTo | Post-traumatic pituitary deficiency | | | -| MONDO:0863534 | acquired central diabetes insipidus | GARD:19291 | MONDO:equivalentTo | Acquired central diabetes insipidus | | | -| MONDO:0863535 | idiopathic isolated micropenis | GARD:19292 | MONDO:equivalentTo | Idiopathic isolated micropenis | | | -| MONDO:0863536 | acquired premature ovarian failure | GARD:19293 | MONDO:equivalentTo | Acquired premature ovarian failure | | | -| MONDO:0863537 | non-acquired premature ovarian failure | GARD:19294 | MONDO:equivalentTo | Non-acquired premature ovarian failure | | | -| MONDO:0863538 | congenital hypothyroidism due to developmental anomaly | GARD:19295 | MONDO:equivalentTo | Congenital hypothyroidism due to developmental anomaly | | | -| MONDO:0863539 | primary congenital hypothyroidism without thyroid developmental anomaly | GARD:19296 | MONDO:equivalentTo | Primary congenital hypothyroidism without thyroid developmental anomaly | | | -| MONDO:0863540 | congenital hypothyroidism due to transplacental passage of tsh-binding inhibitory antibodies | GARD:19297 | MONDO:equivalentTo | Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies | | | -| MONDO:0863541 | idiopathic congenital hypothyroidism | GARD:19298 | MONDO:equivalentTo | Idiopathic congenital hypothyroidism | | | -| MONDO:0863542 | congenital thyroid malformation without hypothyroidism | GARD:19299 | MONDO:equivalentTo | Congenital thyroid malformation without hypothyroidism | | | -| MONDO:0863543 | opitz gbbb syndrome | GARD:193 | MONDO:equivalentTo | Opitz GBBB syndrome | | | -| MONDO:0863544 | mosaic trisomy 4 | GARD:19300 | MONDO:equivalentTo | Mosaic trisomy 4 | | | -| MONDO:0863545 | mosaic trisomy 5 | GARD:19301 | MONDO:equivalentTo | Mosaic trisomy 5 | | | -| MONDO:0863546 | mosaic trisomy 10 | GARD:19302 | MONDO:equivalentTo | Mosaic trisomy 10 | | | -| MONDO:0863547 | distal trisomy 1p36 | GARD:19303 | MONDO:equivalentTo | Distal trisomy 1p36 | | | -| MONDO:0863548 | distal trisomy 2p | GARD:19304 | MONDO:equivalentTo | Distal trisomy 2p | | | -| MONDO:0863549 | distal trisomy 3p | GARD:19305 | MONDO:equivalentTo | Distal trisomy 3p | | | -| MONDO:0863550 | 4p16.3 microduplication syndrome | GARD:19306 | MONDO:equivalentTo | 4p16.3 microduplication syndrome | | | -| MONDO:0863551 | distal trisomy 7p | GARD:19307 | MONDO:equivalentTo | Distal trisomy 7p | | | -| MONDO:0863552 | beckwith-wiedemann syndrome due to 11p15 microduplication | GARD:19308 | MONDO:equivalentTo | Beckwith-Wiedemann syndrome due to 11p15 microduplication | | | -| MONDO:0863553 | 8p inverted duplication/deletion syndrome | GARD:19309 | MONDO:equivalentTo | 8p inverted duplication/deletion syndrome | | | -| MONDO:0863554 | distal trisomy 2q | GARD:19310 | MONDO:equivalentTo | Distal trisomy 2q | | | -| MONDO:0863555 | 3q26 microduplication syndrome | GARD:19311 | MONDO:equivalentTo | 3q26 microduplication syndrome | | | -| MONDO:0863556 | distal trisomy 4q | GARD:19312 | MONDO:equivalentTo | Distal trisomy 4q | | | -| MONDO:0863557 | distal trisomy 5q | GARD:19313 | MONDO:equivalentTo | Distal trisomy 5q | | | -| MONDO:0863558 | distal trisomy 6q | GARD:19314 | MONDO:equivalentTo | Distal trisomy 6q | | | -| MONDO:0863559 | distal trisomy 8q | GARD:19315 | MONDO:equivalentTo | Distal trisomy 8q | | | -| MONDO:0863560 | distal trisomy 9q | GARD:19316 | MONDO:equivalentTo | Distal trisomy 9q | | | -| MONDO:0863561 | distal trisomy 10q | GARD:19317 | MONDO:equivalentTo | Distal trisomy 10q | | | -| MONDO:0863562 | distal trisomy 11q | GARD:19318 | MONDO:equivalentTo | Distal trisomy 11q | | | -| MONDO:0863563 | distal trisomy 13q | GARD:19319 | MONDO:equivalentTo | Distal trisomy 13q | | | -| MONDO:0863564 | distal trisomy 16q | GARD:19320 | MONDO:equivalentTo | Distal trisomy 16q | | | -| MONDO:0863565 | distal trisomy 20q | GARD:19321 | MONDO:equivalentTo | Distal trisomy 20q | | | -| MONDO:0863566 | distal trisomy 22q | GARD:19322 | MONDO:equivalentTo | Distal trisomy 22q | | | -| MONDO:0863567 | non-distal trisomy 9q | GARD:19323 | MONDO:equivalentTo | Non-distal trisomy 9q | | | -| MONDO:0863568 | monosomy 22 | GARD:19324 | MONDO:equivalentTo | Monosomy 22 | | | -| MONDO:0863569 | distal monosomy 7p | GARD:19325 | MONDO:equivalentTo | Distal monosomy 7p | | | -| MONDO:0863570 | distal monosomy 19p13.3 | GARD:19326 | MONDO:equivalentTo | Distal monosomy 19p13.3 | | | -| MONDO:0863571 | distal monosomy 4q | GARD:19327 | MONDO:equivalentTo | Distal monosomy 4q | | | -| MONDO:0863572 | distal monosomy 12q | GARD:19328 | MONDO:equivalentTo | Distal monosomy 12q | | | -| MONDO:0863573 | distal monosomy 14q | GARD:19329 | MONDO:equivalentTo | Distal monosomy 14q | | | -| MONDO:0863574 | non-distal monosomy 12q | GARD:19330 | MONDO:equivalentTo | Non-distal monosomy 12q | | | -| MONDO:0863575 | maternal uniparental disomy of chromosome 2 | GARD:19331 | MONDO:equivalentTo | Maternal uniparental disomy of chromosome 2 | | | -| MONDO:0863576 | maternal uniparental disomy of chromosome 4 | GARD:19332 | MONDO:equivalentTo | Maternal uniparental disomy of chromosome 4 | | | -| MONDO:0863577 | maternal uniparental disomy of chromosome 6 | GARD:19333 | MONDO:equivalentTo | Maternal uniparental disomy of chromosome 6 | | | -| MONDO:0863578 | silver-russell syndrome due to maternal uniparental disomy of chromosome 7 | GARD:19334 | MONDO:equivalentTo | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | | | -| MONDO:0863579 | maternal uniparental disomy of chromosome 9 | GARD:19335 | MONDO:equivalentTo | Maternal uniparental disomy of chromosome 9 | | | -| MONDO:0863580 | maternal uniparental disomy of chromosome 16 | GARD:19336 | MONDO:equivalentTo | Maternal uniparental disomy of chromosome 16 | | | -| MONDO:0863581 | maternal uniparental disomy of chromosome 21 | GARD:19337 | MONDO:equivalentTo | Maternal uniparental disomy of chromosome 21 | | | -| MONDO:0863582 | maternal uniparental disomy of chromosome 22 | GARD:19338 | MONDO:equivalentTo | Maternal uniparental disomy of chromosome 22 | | | -| MONDO:0863583 | paternal uniparental disomy of chromosome 5 | GARD:19339 | MONDO:equivalentTo | Paternal uniparental disomy of chromosome 5 | | | -| MONDO:0863584 | paternal uniparental disomy of chromosome 6 | GARD:19340 | MONDO:equivalentTo | Paternal uniparental disomy of chromosome 6 | | | -| MONDO:0863585 | paternal uniparental disomy of chromosome 7 | GARD:19341 | MONDO:equivalentTo | Paternal uniparental disomy of chromosome 7 | | | -| MONDO:0863586 | beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 | GARD:19342 | MONDO:equivalentTo | Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 | | | -| MONDO:0863587 | paternal uniparental disomy of chromosome 20 | GARD:19343 | MONDO:equivalentTo | Paternal uniparental disomy of chromosome 20 | | | -| MONDO:0863588 | paternal uniparental disomy of chromosome 21 | GARD:19344 | MONDO:equivalentTo | Paternal uniparental disomy of chromosome 21 | | | -| MONDO:0863589 | x small rings | GARD:19345 | MONDO:equivalentTo | X small rings | | | -| MONDO:0863590 | rare genetic deafness | GARD:19346 | MONDO:equivalentTo | Rare genetic deafness | | | -| MONDO:0863591 | isolated partial vaginal agenesis | GARD:19347 | MONDO:equivalentTo | Isolated partial vaginal agenesis | | | -| MONDO:0863592 | polyploidy | GARD:19348 | MONDO:equivalentTo | Polyploidy | | | -| MONDO:0863593 | isochromosome y | GARD:19349 | MONDO:equivalentTo | Isochromosome Y | | | -| MONDO:0863594 | rare otorhinolaryngological malformation | GARD:19350 | MONDO:equivalentTo | Rare otorhinolaryngological malformation | | | -| MONDO:0863595 | anorectal malformation | GARD:19351 | MONDO:equivalentTo | Anorectal malformation | | | -| MONDO:0863596 | early-onset schizophrenia | GARD:19352 | MONDO:equivalentTo | Early-onset schizophrenia | | | -| MONDO:0863597 | solar urticaria | GARD:19353 | MONDO:equivalentTo | Solar urticaria | | | -| MONDO:0863598 | zebra body myopathy | GARD:19354 | MONDO:equivalentTo | Zebra body myopathy | | | -| MONDO:0863599 | mega-cisterna magna | GARD:19355 | MONDO:equivalentTo | Mega-cisterna magna | | | -| MONDO:0863600 | grfoma | GARD:19356 | MONDO:equivalentTo | GRFoma | | | -| MONDO:0863601 | encephalitis | GARD:19357 | MONDO:equivalentTo | Encephalitis | | | -| MONDO:0863602 | ppoma | GARD:19358 | MONDO:equivalentTo | PPoma | | | -| MONDO:0863603 | thyroid lymphoma | GARD:19359 | MONDO:equivalentTo | Thyroid lymphoma | | | -| MONDO:0863604 | bronchial neuroendocrine tumor | GARD:19360 | MONDO:equivalentTo | Bronchial neuroendocrine tumor | | | -| MONDO:0863605 | thymic neuroendocrine tumor | GARD:19361 | MONDO:equivalentTo | Thymic neuroendocrine tumor | | | -| MONDO:0863606 | cardiogenic shock | GARD:19362 | MONDO:equivalentTo | Cardiogenic shock | | | -| MONDO:0863607 | rare benign ovarian tumor | GARD:19363 | MONDO:equivalentTo | Rare benign ovarian tumor | | | -| MONDO:0863608 | osgood-schlatter disease | GARD:19364 | MONDO:equivalentTo | Osgood-Schlatter disease | | | -| MONDO:0863609 | panner disease | GARD:19365 | MONDO:equivalentTo | Panner disease | | | -| MONDO:0863610 | sinding-larsen-johansson disease | GARD:19366 | MONDO:equivalentTo | Sinding-Larsen-Johansson disease | | | -| MONDO:0863611 | melanoma of soft tissue | GARD:19367 | MONDO:equivalentTo | Melanoma of soft tissue | | | -| MONDO:0863612 | dural sinus malformation | GARD:19368 | MONDO:equivalentTo | Dural sinus malformation | | | -| MONDO:0863613 | persistent placoid maculopathy | GARD:19369 | MONDO:equivalentTo | Persistent placoid maculopathy | | | -| MONDO:0863614 | postencephalitic parkinsonism | GARD:19370 | MONDO:equivalentTo | Postencephalitic parkinsonism | | | -| MONDO:0863615 | dementia pugilistica | GARD:19371 | MONDO:equivalentTo | Dementia pugilistica | | | -| MONDO:0863616 | caribbean parkinsonism | GARD:19372 | MONDO:equivalentTo | Caribbean parkinsonism | | | -| MONDO:0863617 | renal hypoplasia, unilateral | GARD:19373 | MONDO:equivalentTo | Renal hypoplasia, unilateral | | | -| MONDO:0863618 | renal hypoplasia, bilateral | GARD:19374 | MONDO:equivalentTo | Renal hypoplasia, bilateral | | | -| MONDO:0863619 | unilateral multicystic dysplastic kidney | GARD:19375 | MONDO:equivalentTo | Unilateral multicystic dysplastic kidney | | | -| MONDO:0863620 | multiloculated renal cyst | GARD:19376 | MONDO:equivalentTo | Multiloculated renal cyst | | | -| MONDO:0863621 | renal tubular dysgenesis due to twin-twin transfusion | GARD:19377 | MONDO:equivalentTo | Renal tubular dysgenesis due to twin-twin transfusion | | | -| MONDO:0863622 | drug-related renal tubular dysgenesis | GARD:19378 | MONDO:equivalentTo | Drug-related renal tubular dysgenesis | | | -| MONDO:0863623 | pauci-immune glomerulonephritis with anca | GARD:19379 | MONDO:equivalentTo | Pauci-immune glomerulonephritis with ANCA | | | -| MONDO:0863624 | pauci-immune glomerulonephritis without anca | GARD:19380 | MONDO:equivalentTo | Pauci-immune glomerulonephritis without ANCA | | | -| MONDO:0863625 | congenital renal artery stenosis | GARD:19381 | MONDO:equivalentTo | Congenital renal artery stenosis | | | -| MONDO:0863626 | maternal uniparental disomy of chromosome 13 | GARD:19382 | MONDO:equivalentTo | Maternal uniparental disomy of chromosome 13 | | | -| MONDO:0863627 | gastroduodenal malformation | GARD:19383 | MONDO:equivalentTo | Gastroduodenal malformation | | | -| MONDO:0863628 | intestinal malformation | GARD:19384 | MONDO:equivalentTo | Intestinal malformation | | | -| MONDO:0863629 | respiratory or thoracic malformation | GARD:19385 | MONDO:equivalentTo | Respiratory or thoracic malformation | | | -| MONDO:0863630 | infectious disease of the nervous system | GARD:19386 | MONDO:equivalentTo | Infectious disease of the nervous system | | | -| MONDO:0863631 | rare headache | GARD:19387 | MONDO:equivalentTo | Rare headache | | | -| MONDO:0863632 | rare disease with odontological manifestation | GARD:19388 | MONDO:equivalentTo | Rare disease with odontological manifestation | | | -| MONDO:0863633 | rare neurologic disease with psychiatric involvement | GARD:19389 | MONDO:equivalentTo | Rare neurologic disease with psychiatric involvement | | | -| MONDO:0863634 | cranial malformation | GARD:19390 | MONDO:equivalentTo | Cranial malformation | | | -| MONDO:0863635 | digestive tract malformation | GARD:19391 | MONDO:equivalentTo | Digestive tract malformation | | | -| MONDO:0863636 | visceral malformation of the liver, biliary tract, pancreas or spleen | GARD:19392 | MONDO:equivalentTo | Visceral malformation of the liver, biliary tract, pancreas or spleen | | | -| MONDO:0863637 | diaphragmatic or abdominal wall malformation | GARD:19393 | MONDO:equivalentTo | Diaphragmatic or abdominal wall malformation | | | -| MONDO:0863638 | central nervous system malformation | GARD:19394 | MONDO:equivalentTo | Central nervous system malformation | | | -| MONDO:0863639 | respiratory or mediastinal malformation | GARD:19395 | MONDO:equivalentTo | Respiratory or mediastinal malformation | | | -| MONDO:0863640 | rare male infertility | GARD:19396 | MONDO:equivalentTo | Rare male infertility | | | -| MONDO:0863641 | rare female infertility | GARD:19397 | MONDO:equivalentTo | Rare female infertility | | | -| MONDO:0863642 | rare allergic respiratory disease | GARD:19398 | MONDO:equivalentTo | Rare allergic respiratory disease | | | -| MONDO:0863643 | rare genetic cardiac disease | GARD:19399 | MONDO:equivalentTo | Rare genetic cardiac disease | | | -| MONDO:0863644 | gamma-aminobutyric acid transaminase deficiency | GARD:194 | MONDO:equivalentTo | Gamma-aminobutyric acid transaminase deficiency | | | -| MONDO:0863645 | rare genetic renal disease | GARD:19400 | MONDO:equivalentTo | Rare genetic renal disease | | | -| MONDO:0863646 | rare tumor | GARD:19401 | MONDO:equivalentTo | Rare tumor | | | -| MONDO:0863647 | rare urinary tract tumor | GARD:19402 | MONDO:equivalentTo | Rare urinary tract tumor | | | -| MONDO:0863648 | rare digestive tumor | GARD:19403 | MONDO:equivalentTo | Rare digestive tumor | | | -| MONDO:0863649 | rare respiratory tumor | GARD:19404 | MONDO:equivalentTo | Rare respiratory tumor | | | -| MONDO:0863650 | rare otorhinolaryngologic tumor | GARD:19405 | MONDO:equivalentTo | Rare otorhinolaryngologic tumor | | | -| MONDO:0863651 | rare nervous system tumor | GARD:19406 | MONDO:equivalentTo | Rare nervous system tumor | | | -| MONDO:0863652 | rare gynecological tumor | GARD:19407 | MONDO:equivalentTo | Rare gynecological tumor | | | -| MONDO:0863653 | gonadal dysgenesis of gynecological interest | GARD:19408 | MONDO:equivalentTo | Gonadal dysgenesis of gynecological interest | | | -| MONDO:0863654 | 46,xx disorder of sex development induced by androgens excess | GARD:19409 | MONDO:equivalentTo | 46,XX disorder of sex development induced by androgens excess | | | -| MONDO:0863655 | 46,xy disorder of sex development due to a defect in testosterone metabolism by peripheral tissue | GARD:19410 | MONDO:equivalentTo | 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue | | | -| MONDO:0863656 | syndrome with 46,xy disorder of sex development | GARD:19411 | MONDO:equivalentTo | Syndrome with 46,XY disorder of sex development | | | -| MONDO:0863657 | autosomal recessive congenital cerebellar ataxia | GARD:19412 | MONDO:equivalentTo | Autosomal recessive congenital cerebellar ataxia | | | -| MONDO:0863658 | autosomal recessive metabolic cerebellar ataxia | GARD:19413 | MONDO:equivalentTo | Autosomal recessive metabolic cerebellar ataxia | | | -| MONDO:0863659 | autosomal recessive cerebellar ataxia due to a dna repair defect | GARD:19414 | MONDO:equivalentTo | Autosomal recessive cerebellar ataxia due to a DNA repair defect | | | -| MONDO:0863660 | autosomal recessive degenerative and progressive cerebellar ataxia | GARD:19415 | MONDO:equivalentTo | Autosomal recessive degenerative and progressive cerebellar ataxia | | | -| MONDO:0863661 | autosomal recessive syndromic cerebellar ataxia | GARD:19416 | MONDO:equivalentTo | Autosomal recessive syndromic cerebellar ataxia | | | -| MONDO:0863662 | autosomal anomaly | GARD:19417 | MONDO:equivalentTo | Autosomal anomaly | | | -| MONDO:0863663 | autosomal trisomy | GARD:19418 | MONDO:equivalentTo | Autosomal trisomy | | | -| MONDO:0863664 | total autosomal trisomy | GARD:19419 | MONDO:equivalentTo | Total autosomal trisomy | | | -| MONDO:0863665 | partial autosomal trisomy/tetrasomy | GARD:19420 | MONDO:equivalentTo | Partial autosomal trisomy/tetrasomy | | | -| MONDO:0863666 | total autosomal monosomy | GARD:19421 | MONDO:equivalentTo | Total autosomal monosomy | | | -| MONDO:0863667 | partial autosomal monosomy | GARD:19422 | MONDO:equivalentTo | Partial autosomal monosomy | | | -| MONDO:0863668 | autosomal uniparental disomy | GARD:19423 | MONDO:equivalentTo | Autosomal uniparental disomy | | | -| MONDO:0863669 | maternal uniparental disomy | GARD:19424 | MONDO:equivalentTo | Maternal uniparental disomy | | | -| MONDO:0863670 | paternal uniparental disomy | GARD:19425 | MONDO:equivalentTo | Paternal uniparental disomy | | | -| MONDO:0863671 | sex-chromosome anomaly | GARD:19426 | MONDO:equivalentTo | Sex-chromosome anomaly | | | -| MONDO:0863672 | sex-chromosome number anomaly | GARD:19427 | MONDO:equivalentTo | Sex-chromosome number anomaly | | | -| MONDO:0863673 | sex-chromosome structural anomaly | GARD:19428 | MONDO:equivalentTo | Sex-chromosome structural anomaly | | | -| MONDO:0863674 | chromosome y structural anomaly | GARD:19429 | MONDO:equivalentTo | Chromosome Y structural anomaly | | | -| MONDO:0863675 | chromosome x structural anomaly | GARD:19430 | MONDO:equivalentTo | Chromosome X structural anomaly | | | -| MONDO:0863676 | malformation syndrome with hamartosis | GARD:19431 | MONDO:equivalentTo | Malformation syndrome with hamartosis | | | -| MONDO:0863677 | combined dystonia | GARD:19432 | MONDO:equivalentTo | Combined dystonia | | | -| MONDO:0863678 | infectious encephalitis | GARD:19433 | MONDO:equivalentTo | Infectious encephalitis | | | -| MONDO:0863679 | chronic encephalitis | GARD:19434 | MONDO:equivalentTo | Chronic encephalitis | | | -| MONDO:0863680 | neonatal epilepsy syndrome | GARD:19435 | MONDO:equivalentTo | Neonatal epilepsy syndrome | | | -| MONDO:0863681 | infantile epilepsy syndrome | GARD:19436 | MONDO:equivalentTo | Infantile epilepsy syndrome | | | -| MONDO:0863682 | childhood-onset epilepsy syndrome | GARD:19437 | MONDO:equivalentTo | Childhood-onset epilepsy syndrome | | | -| MONDO:0863683 | adolescent-onset epilepsy syndrome | GARD:19438 | MONDO:equivalentTo | Adolescent-onset epilepsy syndrome | | | -| MONDO:0863684 | genetic non-syndromic obesity | GARD:19439 | MONDO:equivalentTo | Genetic non-syndromic obesity | | | -| MONDO:0863685 | plasma cell tumor | GARD:19440 | MONDO:equivalentTo | Plasma cell tumor | | | -| MONDO:0863686 | histiocytic and dendritic cell tumor | GARD:19441 | MONDO:equivalentTo | Histiocytic and dendritic cell tumor | | | -| MONDO:0863687 | macrophage or histiocytic tumor | GARD:19442 | MONDO:equivalentTo | Macrophage or histiocytic tumor | | | -| MONDO:0863688 | immunodeficiency-associated lymphoproliferative disease | GARD:19443 | MONDO:equivalentTo | Immunodeficiency-associated lymphoproliferative disease | | | -| MONDO:0863689 | laminopathy | GARD:19444 | MONDO:equivalentTo | Laminopathy | | | -| MONDO:0863690 | male infertility due to gonadal dysgenesis | GARD:19445 | MONDO:equivalentTo | Male infertility due to gonadal dysgenesis | | | -| MONDO:0863691 | male infertility due to obstructive azoospermia | GARD:19446 | MONDO:equivalentTo | Male infertility due to obstructive azoospermia | | | -| MONDO:0863692 | autosomal dominant isolated diffuse palmoplantar keratoderma | GARD:19447 | MONDO:equivalentTo | Autosomal dominant isolated diffuse palmoplantar keratoderma | | | -| MONDO:0863693 | autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature | GARD:19448 | MONDO:equivalentTo | Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature | | | -| MONDO:0863694 | autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature | GARD:19449 | MONDO:equivalentTo | Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature | | | -| MONDO:0863695 | autosomal recessive isolated diffuse palmoplantar keratoderma | GARD:19450 | MONDO:equivalentTo | Autosomal recessive isolated diffuse palmoplantar keratoderma | | | -| MONDO:0863696 | autosomal recessive disease with focal palmoplantar keratoderma as a major feature | GARD:19451 | MONDO:equivalentTo | Autosomal recessive disease with focal palmoplantar keratoderma as a major feature | | | -| MONDO:0863697 | constitutional anemia due to iron metabolism disorder | GARD:19452 | MONDO:equivalentTo | Constitutional anemia due to iron metabolism disorder | | | -| MONDO:0863698 | constitutional sideroblastic anemia | GARD:19453 | MONDO:equivalentTo | Constitutional sideroblastic anemia | | | -| MONDO:0863699 | rare hemolytic anemia | GARD:19454 | MONDO:equivalentTo | Rare hemolytic anemia | | | -| MONDO:0863700 | rare constitutional hemolytic anemia due to a red cell membrane anomaly | GARD:19455 | MONDO:equivalentTo | Rare constitutional hemolytic anemia due to a red cell membrane anomaly | | | -| MONDO:0863701 | hereditary stomatocytosis | GARD:19456 | MONDO:equivalentTo | Hereditary stomatocytosis | | | -| MONDO:0863702 | constitutional hemolytic anemia due to acanthocytosis | GARD:19457 | MONDO:equivalentTo | Constitutional hemolytic anemia due to acanthocytosis | | | -| MONDO:0863703 | rare constitutional hemolytic anemia due to an enzyme disorder | GARD:19458 | MONDO:equivalentTo | Rare constitutional hemolytic anemia due to an enzyme disorder | | | -| MONDO:0863704 | hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies | GARD:19459 | MONDO:equivalentTo | Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies | | | -| MONDO:0863705 | hemolytic anemia due to a disorder of glycolytic enzymes | GARD:19460 | MONDO:equivalentTo | Hemolytic anemia due to a disorder of glycolytic enzymes | | | -| MONDO:0863706 | hemolytic anemia due to an erythrocyte nucleotide metabolism disorder | GARD:19461 | MONDO:equivalentTo | Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder | | | -| MONDO:0863707 | constitutional megaloblastic anemia due to vitamin b12 metabolism disorder | GARD:19462 | MONDO:equivalentTo | Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder | | | -| MONDO:0863708 | constitutional megaloblastic anemia due to folate metabolism disorder | GARD:19463 | MONDO:equivalentTo | Constitutional megaloblastic anemia due to folate metabolism disorder | | | -| MONDO:0863709 | vitamin b12- and folate-independent constitutional megaloblastic anemia | GARD:19464 | MONDO:equivalentTo | Vitamin B12- and folate-independent constitutional megaloblastic anemia | | | -| MONDO:0863710 | primary acquired red cell aplasia | GARD:19465 | MONDO:equivalentTo | Primary acquired red cell aplasia | | | -| MONDO:0863711 | polycythemia | GARD:19466 | MONDO:equivalentTo | Polycythemia | | | -| MONDO:0863712 | secondary polycythemia | GARD:19467 | MONDO:equivalentTo | Secondary polycythemia | | | -| MONDO:0863713 | rare coagulation disorder | GARD:19468 | MONDO:equivalentTo | Rare coagulation disorder | | | -| MONDO:0863714 | alpha granule disease | GARD:19469 | MONDO:equivalentTo | Alpha granule disease | | | -| MONDO:0863715 | dense granule disease | GARD:19470 | MONDO:equivalentTo | Dense granule disease | | | -| MONDO:0863716 | skeletal muscle disease | GARD:19471 | MONDO:equivalentTo | Skeletal muscle disease | | | -| MONDO:0863717 | metabolic myopathy | GARD:19472 | MONDO:equivalentTo | Metabolic myopathy | | | -| MONDO:0863718 | neuromuscular junction disease | GARD:19473 | MONDO:equivalentTo | Neuromuscular junction disease | | | -| MONDO:0863719 | acquired neuromuscular junction disease | GARD:19474 | MONDO:equivalentTo | Acquired neuromuscular junction disease | | | -| MONDO:0863720 | genetic neuromuscular junction disease | GARD:19475 | MONDO:equivalentTo | Genetic neuromuscular junction disease | | | -| MONDO:0863721 | rare peripheral neuropathy | GARD:19476 | MONDO:equivalentTo | Rare peripheral neuropathy | | | -| MONDO:0863722 | motor neuron disease | GARD:19477 | MONDO:equivalentTo | Motor neuron disease | | | -| MONDO:0863723 | genetic motor neuron disease | GARD:19478 | MONDO:equivalentTo | Genetic motor neuron disease | | | -| MONDO:0863724 | acquired motor neuron disease | GARD:19479 | MONDO:equivalentTo | Acquired motor neuron disease | | | -| MONDO:0863725 | malformation of the cerebellar vermis | GARD:19480 | MONDO:equivalentTo | Malformation of the cerebellar vermis | | | -| MONDO:0863726 | malformation of the cerebellar hemispheres | GARD:19481 | MONDO:equivalentTo | Malformation of the cerebellar hemispheres | | | -| MONDO:0863727 | cranial nerve and nuclear aplasia | GARD:19482 | MONDO:equivalentTo | Cranial nerve and nuclear aplasia | | | -| MONDO:0863728 | posterior fossa malformation | GARD:19483 | MONDO:equivalentTo | Posterior fossa malformation | | | -| MONDO:0863729 | neurodegenerative disease with dementia | GARD:19484 | MONDO:equivalentTo | Neurodegenerative disease with dementia | | | -| MONDO:0863730 | frontotemporal degeneration with dementia | GARD:19485 | MONDO:equivalentTo | Frontotemporal degeneration with dementia | | | -| MONDO:0863731 | ataxia with dementia | GARD:19486 | MONDO:equivalentTo | Ataxia with dementia | | | -| MONDO:0863732 | early-onset ataxia with dementia | GARD:19487 | MONDO:equivalentTo | Early-onset ataxia with dementia | | | -| MONDO:0863733 | late-onset ataxia with dementia | GARD:19488 | MONDO:equivalentTo | Late-onset ataxia with dementia | | | -| MONDO:0863734 | infectious disease with dementia | GARD:19489 | MONDO:equivalentTo | Infectious disease with dementia | | | -| MONDO:0863735 | metabolic disease with dementia | GARD:19490 | MONDO:equivalentTo | Metabolic disease with dementia | | | -| MONDO:0863736 | cerebral lipidosis with dementia | GARD:19491 | MONDO:equivalentTo | Cerebral lipidosis with dementia | | | -| MONDO:0863737 | rare cerebrovascular dementia | GARD:19492 | MONDO:equivalentTo | Rare cerebrovascular dementia | | | -| MONDO:0863738 | microphthalmia-anophthalmia-coloboma | GARD:19493 | MONDO:equivalentTo | Microphthalmia-anophthalmia-coloboma | | | -| MONDO:0863739 | syndromic aniridia | GARD:19494 | MONDO:equivalentTo | Syndromic aniridia | | | -| MONDO:0863740 | rare palpebral disorder | GARD:19495 | MONDO:equivalentTo | Rare palpebral disorder | | | -| MONDO:0863741 | congenital malformation of the eyelid | GARD:19496 | MONDO:equivalentTo | Congenital malformation of the eyelid | | | -| MONDO:0863742 | microblepharon-ablephara syndrome | GARD:19497 | MONDO:equivalentTo | Microblepharon-ablephara syndrome | | | -| MONDO:0863743 | eyelid border anomaly | GARD:19498 | MONDO:equivalentTo | Eyelid border anomaly | | | -| MONDO:0863744 | syndromic ankyloblepharon filiforme adnatum | GARD:19499 | MONDO:equivalentTo | Syndromic ankyloblepharon filiforme adnatum | | | -| MONDO:0863745 | hyperkalemic periodic paralysis | GARD:195 | MONDO:equivalentTo | Hyperkalemic periodic paralysis | | | -| MONDO:0863746 | syndromic eyelid coloboma | GARD:19500 | MONDO:equivalentTo | Syndromic eyelid coloboma | | | -| MONDO:0863747 | rare eyelid malposition disorder | GARD:19501 | MONDO:equivalentTo | Rare eyelid malposition disorder | | | -| MONDO:0863748 | congenital ectropion | GARD:19502 | MONDO:equivalentTo | Congenital ectropion | | | -| MONDO:0863749 | secondary ectropion | GARD:19503 | MONDO:equivalentTo | Secondary ectropion | | | -| MONDO:0863750 | syndromic epicanthus | GARD:19504 | MONDO:equivalentTo | Syndromic epicanthus | | | -| MONDO:0863751 | syndromic telecanthus | GARD:19505 | MONDO:equivalentTo | Syndromic telecanthus | | | -| MONDO:0863752 | syndromic outer canthal malposition | GARD:19506 | MONDO:equivalentTo | Syndromic outer canthal malposition | | | -| MONDO:0863753 | rare disorder with ptosis | GARD:19507 | MONDO:equivalentTo | Rare disorder with ptosis | | | -| MONDO:0863754 | rare eyebrow/eyelash disorder | GARD:19508 | MONDO:equivalentTo | Rare eyebrow/eyelash disorder | | | -| MONDO:0863755 | rare disorder of the lacrimal apparatus | GARD:19509 | MONDO:equivalentTo | Rare disorder of the lacrimal apparatus | | | -| MONDO:0863756 | congenital alacrima | GARD:19510 | MONDO:equivalentTo | Congenital alacrima | | | -| MONDO:0863757 | lacrimal drainage system anomaly | GARD:19511 | MONDO:equivalentTo | Lacrimal drainage system anomaly | | | -| MONDO:0863758 | eec syndrome and related disorders | GARD:19512 | MONDO:equivalentTo | EEC syndrome and related disorders | | | -| MONDO:0863759 | rare disorder with conjunctival involvement as a major feature | GARD:19513 | MONDO:equivalentTo | Rare disorder with conjunctival involvement as a major feature | | | -| MONDO:0863760 | rare refraction anomaly | GARD:19514 | MONDO:equivalentTo | Rare refraction anomaly | | | -| MONDO:0863761 | rare hyperopia and astigmatism | GARD:19515 | MONDO:equivalentTo | Rare hyperopia and astigmatism | | | -| MONDO:0863762 | syndromic hyperopia | GARD:19516 | MONDO:equivalentTo | Syndromic hyperopia | | | -| MONDO:0863763 | syndromic keratoconus | GARD:19517 | MONDO:equivalentTo | Syndromic keratoconus | | | -| MONDO:0863764 | superficial corneal dystrophy | GARD:19518 | MONDO:equivalentTo | Superficial corneal dystrophy | | | -| MONDO:0863765 | stromal corneal dystrophy | GARD:19519 | MONDO:equivalentTo | Stromal corneal dystrophy | | | -| MONDO:0863766 | posterior corneal dystrophy | GARD:19520 | MONDO:equivalentTo | Posterior corneal dystrophy | | | -| MONDO:0863767 | syndromic corneal dystrophy | GARD:19521 | MONDO:equivalentTo | Syndromic corneal dystrophy | | | -| MONDO:0863768 | congenital malformation of the eye with glaucoma as a major feature | GARD:19522 | MONDO:equivalentTo | Congenital malformation of the eye with glaucoma as a major feature | | | -| MONDO:0863769 | corneodysgenesis | GARD:19523 | MONDO:equivalentTo | Corneodysgenesis | | | -| MONDO:0863770 | rare disease with glaucoma as a major feature | GARD:19524 | MONDO:equivalentTo | Rare disease with glaucoma as a major feature | | | -| MONDO:0863771 | rare lens disease | GARD:19525 | MONDO:equivalentTo | Rare lens disease | | | -| MONDO:0863772 | rare disorder with lens opacification | GARD:19526 | MONDO:equivalentTo | Rare disorder with lens opacification | | | -| MONDO:0863773 | syndromic cataract | GARD:19527 | MONDO:equivalentTo | Syndromic cataract | | | -| MONDO:0863774 | chromosomal anomaly with cataract | GARD:19528 | MONDO:equivalentTo | Chromosomal anomaly with cataract | | | -| MONDO:0863775 | metabolic disease with cataract | GARD:19529 | MONDO:equivalentTo | Metabolic disease with cataract | | | -| MONDO:0863776 | renal disease with cataract | GARD:19530 | MONDO:equivalentTo | Renal disease with cataract | | | -| MONDO:0863777 | musculoskeletal disease with cataract | GARD:19531 | MONDO:equivalentTo | Musculoskeletal disease with cataract | | | -| MONDO:0863778 | dentocutaneous disease with cataract | GARD:19532 | MONDO:equivalentTo | Dentocutaneous disease with cataract | | | -| MONDO:0863779 | craniofacial anomaly with cataract | GARD:19533 | MONDO:equivalentTo | Craniofacial anomaly with cataract | | | -| MONDO:0863780 | lens size anomaly | GARD:19534 | MONDO:equivalentTo | Lens size anomaly | | | -| MONDO:0863781 | lens position anomaly | GARD:19535 | MONDO:equivalentTo | Lens position anomaly | | | -| MONDO:0863782 | lens shape anomaly | GARD:19536 | MONDO:equivalentTo | Lens shape anomaly | | | -| MONDO:0863783 | color-vision disease | GARD:19537 | MONDO:equivalentTo | Color-vision disease | | | -| MONDO:0863784 | syndromic rod-cone dystrophy | GARD:19538 | MONDO:equivalentTo | Syndromic rod-cone dystrophy | | | -| MONDO:0863785 | vitreoretinopathy | GARD:19539 | MONDO:equivalentTo | Vitreoretinopathy | | | -| MONDO:0863786 | hereditary optic neuropathy | GARD:19540 | MONDO:equivalentTo | Hereditary optic neuropathy | | | -| MONDO:0863787 | rare disorder with strabismus | GARD:19541 | MONDO:equivalentTo | Rare disorder with strabismus | | | -| MONDO:0863788 | syndromic disorder with strabismus | GARD:19542 | MONDO:equivalentTo | Syndromic disorder with strabismus | | | -| MONDO:0863789 | craniostenosis with strabismus | GARD:19543 | MONDO:equivalentTo | Craniostenosis with strabismus | | | -| MONDO:0863790 | rare oculomotor nerve disorder | GARD:19544 | MONDO:equivalentTo | Rare oculomotor nerve disorder | | | -| MONDO:0863791 | congenital trochlear nerve palsy | GARD:19545 | MONDO:equivalentTo | Congenital trochlear nerve palsy | | | -| MONDO:0863792 | supranuclear eye movement disorder | GARD:19546 | MONDO:equivalentTo | Supranuclear eye movement disorder | | | -| MONDO:0863793 | oculomotor apraxia | GARD:19547 | MONDO:equivalentTo | Oculomotor apraxia | | | -| MONDO:0863794 | oculocutaneous or ocular albinism | GARD:19548 | MONDO:equivalentTo | Oculocutaneous or ocular albinism | | | -| MONDO:0863795 | uveitis | GARD:19549 | MONDO:equivalentTo | Uveitis | | | -| MONDO:0863796 | heart position anomaly | GARD:19550 | MONDO:equivalentTo | Heart position anomaly | | | -| MONDO:0863797 | transposition of the great arteries and conotruncal cardiac anomaly | GARD:19551 | MONDO:equivalentTo | Transposition of the great arteries and conotruncal cardiac anomaly | | | -| MONDO:0863798 | aortic malformation | GARD:19552 | MONDO:equivalentTo | Aortic malformation | | | -| MONDO:0863799 | pulmonary artery or pulmonary branch anomaly | GARD:19553 | MONDO:equivalentTo | Pulmonary artery or pulmonary branch anomaly | | | -| MONDO:0863800 | atrioventricular valve anomaly | GARD:19554 | MONDO:equivalentTo | Atrioventricular valve anomaly | | | -| MONDO:0863801 | congenital tricuspid malformation | GARD:19555 | MONDO:equivalentTo | Congenital tricuspid malformation | | | -| MONDO:0863802 | congenital anomaly of the great arteries | GARD:19556 | MONDO:equivalentTo | Congenital anomaly of the great arteries | | | -| MONDO:0863803 | ascending aorta anomaly | GARD:19557 | MONDO:equivalentTo | Ascending aorta anomaly | | | -| MONDO:0863804 | rare atrial defect and interatrial communication | GARD:19558 | MONDO:equivalentTo | Rare atrial defect and interatrial communication | | | -| MONDO:0863805 | congenital pulmonary veins anomaly | GARD:19559 | MONDO:equivalentTo | Congenital pulmonary veins anomaly | | | -| MONDO:0863806 | congenital arteriovenous fistula | GARD:19560 | MONDO:equivalentTo | Congenital arteriovenous fistula | | | -| MONDO:0863807 | noonan syndrome and noonan-related syndrome | GARD:19561 | MONDO:equivalentTo | Noonan syndrome and Noonan-related syndrome | | | -| MONDO:0863808 | genetic neurological muscular channelopathy | GARD:19562 | MONDO:equivalentTo | Genetic neurological muscular channelopathy | | | -| MONDO:0863809 | neurological muscular channelopathy due to a genetic sodium channel defect | GARD:19563 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic sodium channel defect | | | -| MONDO:0863810 | neurological muscular channelopathy due to a genetic chloride channel defect | GARD:19564 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic chloride channel defect | | | -| MONDO:0863811 | neurological muscular channelopathy due to a genetic calcium channel defect | GARD:19565 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic calcium channel defect | | | -| MONDO:0863812 | neurological muscular channelopathy due to a genetic potassium channel defect | GARD:19566 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic potassium channel defect | | | -| MONDO:0863813 | neurological muscular channelopathy due to a genetic ryanodine receptor defect | GARD:19567 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic ryanodine receptor defect | | | -| MONDO:0863814 | genetic neurological channelopathy of the central nervous system | GARD:19568 | MONDO:equivalentTo | Genetic neurological channelopathy of the central nervous system | | | -| MONDO:0863815 | neurological channelopathy of the central nervous system due to a genetic sodium channel defect | GARD:19569 | MONDO:equivalentTo | Neurological channelopathy of the central nervous system due to a genetic sodium channel defect | | | -| MONDO:0863816 | neurological channelopathy of the central nervous system due to a genetic calcium channel defect | GARD:19570 | MONDO:equivalentTo | Neurological channelopathy of the central nervous system due to a genetic calcium channel defect | | | -| MONDO:0863817 | neurological channelopathy of the central nervous system due to a genetic potassium channel defect | GARD:19571 | MONDO:equivalentTo | Neurological channelopathy of the central nervous system due to a genetic potassium channel defect | | | -| MONDO:0863818 | neurological channelopathy of the central nervous system due to a genetic glycine receptor defect | GARD:19572 | MONDO:equivalentTo | Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect | | | -| MONDO:0863819 | neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect | GARD:19573 | MONDO:equivalentTo | Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect | | | -| MONDO:0863820 | neurological channelopathy of the central nervous system due to a genetic gaba receptor defect | GARD:19574 | MONDO:equivalentTo | Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect | | | -| MONDO:0863821 | autoimmune neurological channelopathy | GARD:19575 | MONDO:equivalentTo | Autoimmune neurological channelopathy | | | -| MONDO:0863822 | prader-willi syndrome due to paternal 15q11q13 deletion | GARD:19576 | MONDO:equivalentTo | Prader-Willi syndrome due to paternal 15q11q13 deletion | | | -| MONDO:0863823 | angelman syndrome due to maternal 15q11q13 deletion | GARD:19577 | MONDO:equivalentTo | Angelman syndrome due to maternal 15q11q13 deletion | | | -| MONDO:0863824 | angelman syndrome due to paternal uniparental disomy of chromosome 15 | GARD:19578 | MONDO:equivalentTo | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | | | -| MONDO:0863825 | isochromosomy yp | GARD:19579 | MONDO:equivalentTo | Isochromosomy Yp | | | -| MONDO:0863826 | isochromosomy yq | GARD:19580 | MONDO:equivalentTo | Isochromosomy Yq | | | -| MONDO:0863827 | benign childhood occipital epilepsy, panayiotopoulos type | GARD:19581 | MONDO:equivalentTo | Benign childhood occipital epilepsy, Panayiotopoulos type | | | -| MONDO:0863828 | benign childhood occipital epilepsy, gastaut type | GARD:19582 | MONDO:equivalentTo | Benign childhood occipital epilepsy, Gastaut type | | | -| MONDO:0863829 | atypical chronic myeloid leukemia | GARD:19583 | MONDO:equivalentTo | Atypical chronic myeloid leukemia | | | -| MONDO:0863830 | unclassified myelodysplastic/myeloproliferative disease | GARD:19584 | MONDO:equivalentTo | Unclassified myelodysplastic/myeloproliferative disease | | | -| MONDO:0863831 | refractory anemia | GARD:19585 | MONDO:equivalentTo | Refractory anemia | | | -| MONDO:0863832 | unclassified myelodysplastic syndrome | GARD:19586 | MONDO:equivalentTo | Unclassified myelodysplastic syndrome | | | -| MONDO:0863833 | acute myeloid leukemia with 11q23 abnormalities | GARD:19587 | MONDO:equivalentTo | Acute myeloid leukemia with 11q23 abnormalities | | | -| MONDO:0863834 | acute myeloid leukemia with minimal differentiation | GARD:19588 | MONDO:equivalentTo | Acute myeloid leukemia with minimal differentiation | | | -| MONDO:0863835 | primary mediastinal large b-cell lymphoma | GARD:19589 | MONDO:equivalentTo | Primary mediastinal large B-cell lymphoma | | | -| MONDO:0863836 | intravascular large b-cell lymphoma | GARD:19590 | MONDO:equivalentTo | Intravascular large B-cell lymphoma | | | -| MONDO:0863837 | classic hodgkin lymphoma, nodular sclerosis type | GARD:19591 | MONDO:equivalentTo | Classic Hodgkin lymphoma, nodular sclerosis type | | | -| MONDO:0863838 | classic hodgkin lymphoma, mixed cellularity type | GARD:19592 | MONDO:equivalentTo | Classic Hodgkin lymphoma, mixed cellularity type | | | -| MONDO:0863839 | classic hodgkin lymphoma, lymphocyte-rich type | GARD:19593 | MONDO:equivalentTo | Classic Hodgkin lymphoma, lymphocyte-rich type | | | -| MONDO:0863840 | classic hodgkin lymphoma, lymphocyte-depleted type | GARD:19594 | MONDO:equivalentTo | Classic Hodgkin lymphoma, lymphocyte-depleted type | | | -| MONDO:0863841 | indolent systemic mastocytosis | GARD:19595 | MONDO:equivalentTo | Indolent systemic mastocytosis | | | -| MONDO:0863842 | systemic mastocytosis with associated hematologic neoplasm | GARD:19596 | MONDO:equivalentTo | Systemic mastocytosis with associated hematologic neoplasm | | | -| MONDO:0863843 | aggressive systemic mastocytosis | GARD:19597 | MONDO:equivalentTo | Aggressive systemic mastocytosis | | | -| MONDO:0863844 | mast cell leukemia | GARD:19598 | MONDO:equivalentTo | Mast cell leukemia | | | -| MONDO:0863845 | x-linked complex spastic paraplegia | GARD:19599 | MONDO:equivalentTo | X-linked complex spastic paraplegia | | | -| MONDO:0863846 | alpha-crystallinopathy | GARD:19600 | MONDO:equivalentTo | Alpha-crystallinopathy | | | -| MONDO:0863847 | acute motor and sensory axonal neuropathy | GARD:19601 | MONDO:equivalentTo | Acute motor and sensory axonal neuropathy | | | -| MONDO:0863848 | acute motor axonal neuropathy | GARD:19602 | MONDO:equivalentTo | Acute motor axonal neuropathy | | | -| MONDO:0863849 | blake pouch cyst | GARD:19603 | MONDO:equivalentTo | Blake pouch cyst | | | -| MONDO:0863850 | multiple system atrophy, parkinsonian type | GARD:19604 | MONDO:equivalentTo | Multiple system atrophy, parkinsonian type | | | -| MONDO:0863851 | coloboma of eyelid | GARD:19605 | MONDO:equivalentTo | Coloboma of eyelid | | | -| MONDO:0863852 | congenital symblepharon | GARD:19606 | MONDO:equivalentTo | Congenital symblepharon | | | -| MONDO:0863853 | partial cryptophthalmia | GARD:19607 | MONDO:equivalentTo | Partial cryptophthalmia | | | -| MONDO:0863854 | inverse marcus-gunn phenomenon | GARD:19608 | MONDO:equivalentTo | Inverse Marcus-Gunn phenomenon | | | -| MONDO:0863855 | climatic droplet keratopathy | GARD:19609 | MONDO:equivalentTo | Climatic droplet keratopathy | | | -| MONDO:0863856 | congenital hereditary endothelial dystrophy type i | GARD:19610 | MONDO:equivalentTo | Congenital hereditary endothelial dystrophy type I | | | -| MONDO:0863857 | essential iris atrophy | GARD:19611 | MONDO:equivalentTo | Essential iris atrophy | | | -| MONDO:0863858 | multifocal pattern dystrophy simulating fundus flavimaculatus | GARD:19612 | MONDO:equivalentTo | Multifocal pattern dystrophy simulating fundus flavimaculatus | | | -| MONDO:0863859 | fundus pulverulentus | GARD:19613 | MONDO:equivalentTo | Fundus pulverulentus | | | -| MONDO:0863860 | congenitally uncorrected transposition of the great arteries with coarctation | GARD:19614 | MONDO:equivalentTo | Congenitally uncorrected transposition of the great arteries with coarctation | | | -| MONDO:0863861 | double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis | GARD:19615 | MONDO:equivalentTo | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis | | | -| MONDO:0863862 | double outlet right ventricle with subpulmonary ventricular septal defect | GARD:19616 | MONDO:equivalentTo | Double outlet right ventricle with subpulmonary ventricular septal defect | | | -| MONDO:0863863 | double outlet right ventricle with non-committed subpulmonary ventricular septal defect | GARD:19617 | MONDO:equivalentTo | Double outlet right ventricle with non-committed subpulmonary ventricular septal defect | | | -| MONDO:0863864 | pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome | GARD:19618 | MONDO:equivalentTo | Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome | | | -| MONDO:0863865 | pulmonary artery coming from patent ductus arteriosus | GARD:19619 | MONDO:equivalentTo | Pulmonary artery coming from patent ductus arteriosus | | | -| MONDO:0863866 | discrete fibromuscular subaortic stenosis | GARD:19620 | MONDO:equivalentTo | Discrete fibromuscular subaortic stenosis | | | -| MONDO:0863867 | tunnel subaortic stenosis | GARD:19621 | MONDO:equivalentTo | Tunnel subaortic stenosis | | | -| MONDO:0863868 | valvular pulmonary stenosis | GARD:19622 | MONDO:equivalentTo | Valvular pulmonary stenosis | | | -| MONDO:0863869 | congenital anomaly of the tricuspid valve chordae | GARD:19623 | MONDO:equivalentTo | Congenital anomaly of the tricuspid valve chordae | | | -| MONDO:0863870 | parachute tricuspid valve | GARD:19624 | MONDO:equivalentTo | Parachute tricuspid valve | | | -| MONDO:0863871 | hypoplasia of the mitral valve annulus | GARD:19625 | MONDO:equivalentTo | Hypoplasia of the mitral valve annulus | | | -| MONDO:0863872 | congenital supravalvular mitral ring | GARD:19626 | MONDO:equivalentTo | Congenital supravalvular mitral ring | | | -| MONDO:0863873 | congenital unguarded mitral orifice | GARD:19627 | MONDO:equivalentTo | Congenital unguarded mitral orifice | | | -| MONDO:0863874 | accessory mitral valve tissue | GARD:19628 | MONDO:equivalentTo | Accessory mitral valve tissue | | | -| MONDO:0863875 | mitral valve agenesis | GARD:19629 | MONDO:equivalentTo | Mitral valve agenesis | | | -| MONDO:0863876 | shone complex | GARD:19630 | MONDO:equivalentTo | Shone complex | | | -| MONDO:0863877 | straddling and/or overriding mitral valve | GARD:19631 | MONDO:equivalentTo | Straddling and/or overriding mitral valve | | | -| MONDO:0863878 | aorto-right ventricular tunnel | GARD:19632 | MONDO:equivalentTo | Aorto-right ventricular tunnel | | | -| MONDO:0863879 | aorto-left ventricular tunnel | GARD:19633 | MONDO:equivalentTo | Aorto-left ventricular tunnel | | | -| MONDO:0863880 | congenital patent ductus arteriosus aneurysm | GARD:19634 | MONDO:equivalentTo | Congenital patent ductus arteriosus aneurysm | | | -| MONDO:0863881 | encircling double aortic arch | GARD:19635 | MONDO:equivalentTo | Encircling double aortic arch | | | -| MONDO:0863882 | persistent fifth aortic arch | GARD:19636 | MONDO:equivalentTo | Persistent fifth aortic arch | | | -| MONDO:0863883 | kommerell diverticulum | GARD:19637 | MONDO:equivalentTo | Kommerell diverticulum | | | -| MONDO:0863884 | neuhauser anomaly | GARD:19638 | MONDO:equivalentTo | Neuhauser anomaly | | | -| MONDO:0863885 | cervical aortic arch | GARD:19639 | MONDO:equivalentTo | Cervical aortic arch | | | -| MONDO:0863886 | right aortic arch | GARD:19640 | MONDO:equivalentTo | Right aortic arch | | | -| MONDO:0863887 | dysphagia lusoria | GARD:19641 | MONDO:equivalentTo | Dysphagia lusoria | | | -| MONDO:0863888 | pulmonary artery hypoplasia | GARD:19642 | MONDO:equivalentTo | Pulmonary artery hypoplasia | | | -| MONDO:0863889 | coronary ostial stenosis or atresia | GARD:19643 | MONDO:equivalentTo | Coronary ostial stenosis or atresia | | | -| MONDO:0863890 | abnormal number of coronary ostia | GARD:19644 | MONDO:equivalentTo | Abnormal number of coronary ostia | | | -| MONDO:0863891 | malposition of a coronary ostium | GARD:19645 | MONDO:equivalentTo | Malposition of a coronary ostium | | | -| MONDO:0863892 | laubry-pezzi syndrome | GARD:19646 | MONDO:equivalentTo | Laubry-Pezzi syndrome | | | -| MONDO:0863893 | congenital gerbode defect | GARD:19647 | MONDO:equivalentTo | Congenital Gerbode defect | | | -| MONDO:0863894 | juxtaposition of the atrial appendages | GARD:19648 | MONDO:equivalentTo | Juxtaposition of the atrial appendages | | | -| MONDO:0863895 | ectasia of the right atrial appendage | GARD:19649 | MONDO:equivalentTo | Ectasia of the right atrial appendage | | | -| MONDO:0863896 | ectasia of the left atrial appendage | GARD:19650 | MONDO:equivalentTo | Ectasia of the left atrial appendage | | | -| MONDO:0863897 | atrial septal aneurysm | GARD:19651 | MONDO:equivalentTo | Atrial septal aneurysm | | | -| MONDO:0863898 | persistent left superior vena cava connecting through coronary sinus to left-sided atrium | GARD:19652 | MONDO:equivalentTo | Persistent left superior vena cava connecting through coronary sinus to left-sided atrium | | | -| MONDO:0863899 | right superior vena cava connecting to left-sided atrium | GARD:19653 | MONDO:equivalentTo | Right superior vena cava connecting to left-sided atrium | | | -| MONDO:0863900 | persistent left superior vena cava connecting to the roof of left-sided atrium | GARD:19654 | MONDO:equivalentTo | Persistent left superior vena cava connecting to the roof of left-sided atrium | | | -| MONDO:0863901 | absence of innominate vein | GARD:19655 | MONDO:equivalentTo | Absence of innominate vein | | | -| MONDO:0863902 | subaortic course of innominate vein | GARD:19656 | MONDO:equivalentTo | Subaortic course of innominate vein | | | -| MONDO:0863903 | agenesis of the superior vena cava | GARD:19657 | MONDO:equivalentTo | Agenesis of the superior vena cava | | | -| MONDO:0863904 | coronary sinus stenosis | GARD:19658 | MONDO:equivalentTo | Coronary sinus stenosis | | | -| MONDO:0863905 | coronary sinus atresia | GARD:19659 | MONDO:equivalentTo | Coronary sinus atresia | | | -| MONDO:0863906 | right inferior vena cava connecting to left-sided atrium | GARD:19660 | MONDO:equivalentTo | Right inferior vena cava connecting to left-sided atrium | | | -| MONDO:0863907 | persistent eustachian valve | GARD:19661 | MONDO:equivalentTo | Persistent eustachian valve | | | -| MONDO:0863908 | azygos continuation of the inferior vena cava | GARD:19662 | MONDO:equivalentTo | Azygos continuation of the inferior vena cava | | | -| MONDO:0863909 | congenital stenosis of the inferior vena cava | GARD:19663 | MONDO:equivalentTo | Congenital stenosis of the inferior vena cava | | | -| MONDO:0863910 | inferior vena cava interruption without azygos continuation | GARD:19664 | MONDO:equivalentTo | Inferior vena cava interruption without azygos continuation | | | -| MONDO:0863911 | congenital partial pulmonary venous return anomaly | GARD:19665 | MONDO:equivalentTo | Congenital partial pulmonary venous return anomaly | | | -| MONDO:0863912 | congenital complete agenesis of pericardium | GARD:19666 | MONDO:equivalentTo | Congenital complete agenesis of pericardium | | | -| MONDO:0863913 | congenital partial agenesis of pericardium | GARD:19667 | MONDO:equivalentTo | Congenital partial agenesis of pericardium | | | -| MONDO:0863914 | pleuro-pericardial cyst | GARD:19668 | MONDO:equivalentTo | Pleuro-pericardial cyst | | | -| MONDO:0863915 | hemolytic anemia due to erythrocyte adenosine deaminase overproduction | GARD:19669 | MONDO:equivalentTo | Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | | | -| MONDO:0863916 | unstable hemoglobin disease | GARD:19670 | MONDO:equivalentTo | Unstable hemoglobin disease | | | -| MONDO:0863917 | epiblepharon | GARD:19671 | MONDO:equivalentTo | Epiblepharon | | | -| MONDO:0863918 | tarsal kink syndrome | GARD:19672 | MONDO:equivalentTo | Tarsal kink syndrome | | | -| MONDO:0863919 | isolated congenital ectropion | GARD:19673 | MONDO:equivalentTo | Isolated congenital ectropion | | | -| MONDO:0863920 | euryblepharon | GARD:19674 | MONDO:equivalentTo | Euryblepharon | | | -| MONDO:0863921 | congenital eyelid retraction | GARD:19675 | MONDO:equivalentTo | Congenital eyelid retraction | | | -| MONDO:0863922 | monosomy x | GARD:19676 | MONDO:equivalentTo | Monosomy X | | | -| MONDO:0863923 | mosaic monosomy x | GARD:19677 | MONDO:equivalentTo | Mosaic monosomy X | | | -| MONDO:0863924 | paternal uniparental disomy of chromosome 13 | GARD:19678 | MONDO:equivalentTo | Paternal uniparental disomy of chromosome 13 | | | -| MONDO:0863925 | 49,xyyyy syndrome | GARD:19679 | MONDO:equivalentTo | 49,XYYYY syndrome | | | -| MONDO:0863926 | pituitary adenoma | GARD:19680 | MONDO:equivalentTo | Pituitary adenoma | | | -| MONDO:0863927 | turner syndrome due to structural x chromosome anomalies | GARD:19681 | MONDO:equivalentTo | Turner syndrome due to structural X chromosome anomalies | | | -| MONDO:0863928 | cheirospondyloenchondromatosis | GARD:19682 | MONDO:equivalentTo | Cheirospondyloenchondromatosis | | | -| MONDO:0863929 | dermotrichic syndrome | GARD:19683 | MONDO:equivalentTo | Dermotrichic syndrome | | | -| MONDO:0863930 | mesial temporal lobe epilepsy with hippocampal sclerosis | GARD:19684 | MONDO:equivalentTo | Mesial temporal lobe epilepsy with hippocampal sclerosis | | | -| MONDO:0863931 | early-onset obesity-hyperphagia-severe developmental delay syndrome | GARD:19685 | MONDO:equivalentTo | Early-onset obesity-hyperphagia-severe developmental delay syndrome | | | -| MONDO:0863932 | rare familial disorder with hypertrophic cardiomyopathy | GARD:19686 | MONDO:equivalentTo | Rare familial disorder with hypertrophic cardiomyopathy | | | -| MONDO:0863933 | bifid uvula | GARD:19687 | MONDO:equivalentTo | Bifid uvula | | | -| MONDO:0863934 | lassa fever | GARD:19688 | MONDO:equivalentTo | Lassa fever | | | -| MONDO:0863935 | nipah virus disease | GARD:19689 | MONDO:equivalentTo | Nipah virus disease | | | -| MONDO:0863936 | crimean-congo hemorrhagic fever | GARD:19690 | MONDO:equivalentTo | Crimean-Congo hemorrhagic fever | | | -| MONDO:0863937 | primary syringomyelia | GARD:19691 | MONDO:equivalentTo | Primary syringomyelia | | | -| MONDO:0863938 | secondary syringomyelia | GARD:19692 | MONDO:equivalentTo | Secondary syringomyelia | | | -| MONDO:0863939 | idiopathic syringomyelia | GARD:19693 | MONDO:equivalentTo | Idiopathic syringomyelia | | | -| MONDO:0863940 | precursor t-cell acute lymphoblastic leukemia | GARD:19694 | MONDO:equivalentTo | Precursor T-cell acute lymphoblastic leukemia | | | -| MONDO:0863941 | thymic carcinoma | GARD:19695 | MONDO:equivalentTo | Thymic carcinoma | | | -| MONDO:0863942 | thymic neuroendocrine carcinoma | GARD:19696 | MONDO:equivalentTo | Thymic neuroendocrine carcinoma | | | -| MONDO:0863943 | acute megakaryoblastic leukemia in down syndrome | GARD:19697 | MONDO:equivalentTo | Acute megakaryoblastic leukemia in Down syndrome | | | -| MONDO:0863944 | cushing syndrome due to ectopic acth secretion | GARD:19698 | MONDO:equivalentTo | Cushing syndrome due to ectopic ACTH secretion | | | -| MONDO:0863945 | acth-dependent cushing syndrome | GARD:19699 | MONDO:equivalentTo | ACTH-dependent Cushing syndrome | | | -| MONDO:0863946 | acth-independent cushing syndrome | GARD:19700 | MONDO:equivalentTo | ACTH-independent Cushing syndrome | | | -| MONDO:0863947 | spirillary rat-bite fever | GARD:19701 | MONDO:equivalentTo | Spirillary rat-bite fever | | | -| MONDO:0863948 | streptobacillary rat-bite fever | GARD:19702 | MONDO:equivalentTo | Streptobacillary rat-bite fever | | | -| MONDO:0863949 | house allergic alveolitis | GARD:19703 | MONDO:equivalentTo | House allergic alveolitis | | | -| MONDO:0863950 | occupational allergic alveolitis | GARD:19704 | MONDO:equivalentTo | Occupational allergic alveolitis | | | -| MONDO:0863951 | malignant dysgerminomatous germ cell tumor of the ovary | GARD:19705 | MONDO:equivalentTo | Malignant dysgerminomatous germ cell tumor of the ovary | | | -| MONDO:0863952 | extragonadal non-dysgerminomatous germ cell tumor | GARD:19706 | MONDO:equivalentTo | Extragonadal non-dysgerminomatous germ cell tumor | | | -| MONDO:0863953 | maligant granulosa cell tumor of the ovary | GARD:19707 | MONDO:equivalentTo | Maligant granulosa cell tumor of the ovary | | | -| MONDO:0863954 | theca steroid-producing cell malignant tumor of ovary, not further specified | GARD:19708 | MONDO:equivalentTo | Theca steroid-producing cell malignant tumor of ovary, not further specified | | | -| MONDO:0863955 | streptococcal toxic-shock syndrome | GARD:19709 | MONDO:equivalentTo | Streptococcal toxic-shock syndrome | | | -| MONDO:0863956 | staphylococcal toxic-shock syndrome | GARD:19710 | MONDO:equivalentTo | Staphylococcal toxic-shock syndrome | | | -| MONDO:0863957 | invasive mole | GARD:19711 | MONDO:equivalentTo | Invasive mole | | | -| MONDO:0863958 | gestational choriocarcinoma | GARD:19712 | MONDO:equivalentTo | Gestational choriocarcinoma | | | -| MONDO:0863959 | secondary pulmonary hemosiderosis | GARD:19713 | MONDO:equivalentTo | Secondary pulmonary hemosiderosis | | | -| MONDO:0863960 | heiner syndrome | GARD:19714 | MONDO:equivalentTo | Heiner syndrome | | | -| MONDO:0863961 | pleuropulmonary blastoma type 1 | GARD:19715 | MONDO:equivalentTo | Pleuropulmonary blastoma type 1 | | | -| MONDO:0863962 | pleuropulmonary blastoma type 2 | GARD:19716 | MONDO:equivalentTo | Pleuropulmonary blastoma type 2 | | | -| MONDO:0863963 | pleuropulmonary blastoma type 3 | GARD:19717 | MONDO:equivalentTo | Pleuropulmonary blastoma type 3 | | | -| MONDO:0863964 | o'sullivan-mcleod syndrome | GARD:19718 | MONDO:equivalentTo | O'Sullivan-McLeod syndrome | | | -| MONDO:0863965 | pleomorphic liposarcoma | GARD:19719 | MONDO:equivalentTo | Pleomorphic liposarcoma | | | -| MONDO:0863966 | dedifferentiated liposarcoma | GARD:19720 | MONDO:equivalentTo | Dedifferentiated liposarcoma | | | -| MONDO:0863967 | well-differentiated liposarcoma | GARD:19721 | MONDO:equivalentTo | Well-differentiated liposarcoma | | | -| MONDO:0863968 | apnea of prematurity | GARD:19722 | MONDO:equivalentTo | Apnea of prematurity | | | -| MONDO:0863969 | cutaneous myiasis | GARD:19723 | MONDO:equivalentTo | Cutaneous myiasis | | | -| MONDO:0863970 | intermediate dend syndrome | GARD:19724 | MONDO:equivalentTo | Intermediate DEND syndrome | | | -| MONDO:0863971 | brill-zinsser disease | GARD:19725 | MONDO:equivalentTo | Brill-Zinsser disease | | | -| MONDO:0863972 | relapsing epidemic typhus | GARD:19726 | MONDO:equivalentTo | Relapsing epidemic typhus | | | -| MONDO:0863973 | complex regional pain syndrome type 2 | GARD:19727 | MONDO:equivalentTo | Complex regional pain syndrome type 2 | | | -| MONDO:0863974 | reticular perineurioma | GARD:19728 | MONDO:equivalentTo | Reticular perineurioma | | | -| MONDO:0863975 | sclerosing perineurioma | GARD:19729 | MONDO:equivalentTo | Sclerosing perineurioma | | | -| MONDO:0863976 | extraneural perineurioma | GARD:19730 | MONDO:equivalentTo | Extraneural perineurioma | | | -| MONDO:0863977 | lissencephaly with cerebellar hypoplasia type a | GARD:19731 | MONDO:equivalentTo | Lissencephaly with cerebellar hypoplasia type A | | | -| MONDO:0863978 | lissencephaly with cerebellar hypoplasia type b | GARD:19732 | MONDO:equivalentTo | Lissencephaly with cerebellar hypoplasia type B | | | -| MONDO:0863979 | lissencephaly with cerebellar hypoplasia type c | GARD:19733 | MONDO:equivalentTo | Lissencephaly with cerebellar hypoplasia type C | | | -| MONDO:0863980 | lissencephaly with cerebellar hypoplasia type d | GARD:19734 | MONDO:equivalentTo | Lissencephaly with cerebellar hypoplasia type D | | | -| MONDO:0863981 | lissencephaly with cerebellar hypoplasia type e | GARD:19735 | MONDO:equivalentTo | Lissencephaly with cerebellar hypoplasia type E | | | -| MONDO:0863982 | lissencephaly with cerebellar hypoplasia type f | GARD:19736 | MONDO:equivalentTo | Lissencephaly with cerebellar hypoplasia type F | | | -| MONDO:0863983 | refractory anemia with excess blasts type 1 | GARD:19737 | MONDO:equivalentTo | Refractory anemia with excess blasts type 1 | | | -| MONDO:0863984 | refractory anemia with excess blasts type 2 | GARD:19738 | MONDO:equivalentTo | Refractory anemia with excess blasts type 2 | | | -| MONDO:0863985 | primary plasmacytoma of the bone | GARD:19739 | MONDO:equivalentTo | Primary plasmacytoma of the bone | | | -| MONDO:0863986 | extramedullary soft tissue plasmacytoma | GARD:19740 | MONDO:equivalentTo | Extramedullary soft tissue plasmacytoma | | | -| MONDO:0863987 | mu-heavy chain disease | GARD:19741 | MONDO:equivalentTo | Mu-heavy chain disease | | | -| MONDO:0863988 | alpha-heavy chain disease | GARD:19742 | MONDO:equivalentTo | Alpha-heavy chain disease | | | -| MONDO:0863989 | solitary necrotic nodule of the liver | GARD:19743 | MONDO:equivalentTo | Solitary necrotic nodule of the liver | | | -| MONDO:0863990 | esophageal duplication cyst | GARD:19744 | MONDO:equivalentTo | Esophageal duplication cyst | | | -| MONDO:0863991 | tubular duplication of the esophagus | GARD:19745 | MONDO:equivalentTo | Tubular duplication of the esophagus | | | -| MONDO:0863992 | primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies | GARD:19746 | MONDO:equivalentTo | Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies | | | -| MONDO:0863993 | acquired angioedema type 2 | GARD:19747 | MONDO:equivalentTo | Acquired angioedema type 2 | | | -| MONDO:0863994 | acquired angioedema type 1 | GARD:19748 | MONDO:equivalentTo | Acquired angioedema type 1 | | | -| MONDO:0863995 | neurogenic thoracic outlet syndrome | GARD:19749 | MONDO:equivalentTo | Neurogenic thoracic outlet syndrome | | | -| MONDO:0863996 | duplication of urethra | GARD:1975 | MONDO:equivalentTo | Duplication of urethra | | | -| MONDO:0863997 | neuroendocrine tumor of stomach | GARD:19750 | MONDO:equivalentTo | Neuroendocrine tumor of stomach | | | -| MONDO:0863998 | duodenal neuroendocrine tumor | GARD:19751 | MONDO:equivalentTo | Duodenal neuroendocrine tumor | | | -| MONDO:0863999 | jejunal neuroendocrine tumor | GARD:19752 | MONDO:equivalentTo | Jejunal neuroendocrine tumor | | | -| MONDO:0864000 | ileal neuroendocrine tumor | GARD:19753 | MONDO:equivalentTo | Ileal neuroendocrine tumor | | | -| MONDO:0864001 | neuroendocrine neoplasm of appendix | GARD:19754 | MONDO:equivalentTo | Neuroendocrine neoplasm of appendix | | | -| MONDO:0864002 | neuroendocrine tumor of the colon | GARD:19755 | MONDO:equivalentTo | Neuroendocrine tumor of the colon | | | -| MONDO:0864003 | neuroendocrine tumor of the rectum | GARD:19756 | MONDO:equivalentTo | Neuroendocrine tumor of the rectum | | | -| MONDO:0864004 | neuroendocrine tumor of anal canal | GARD:19757 | MONDO:equivalentTo | Neuroendocrine tumor of anal canal | | | -| MONDO:0864005 | laryngeal neuroendocrine tumor | GARD:19758 | MONDO:equivalentTo | Laryngeal neuroendocrine tumor | | | -| MONDO:0864006 | middle ear neuroendocrine tumor | GARD:19759 | MONDO:equivalentTo | Middle ear neuroendocrine tumor | | | -| MONDO:0864007 | primary hepatic neuroendocrine carcinoma | GARD:19760 | MONDO:equivalentTo | Primary hepatic neuroendocrine carcinoma | | | -| MONDO:0864008 | gallbladder neuroendocrine tumor | GARD:19761 | MONDO:equivalentTo | Gallbladder neuroendocrine tumor | | | -| MONDO:0864009 | thyroid tumor | GARD:19762 | MONDO:equivalentTo | Thyroid tumor | | | -| MONDO:0864010 | thyroid carcinoma | GARD:19763 | MONDO:equivalentTo | Thyroid carcinoma | | | -| MONDO:0864011 | rare parathyroid tumor | GARD:19764 | MONDO:equivalentTo | Rare parathyroid tumor | | | -| MONDO:0864012 | adrenal/paraganglial tumor | GARD:19765 | MONDO:equivalentTo | Adrenal/paraganglial tumor | | | -| MONDO:0864013 | multiple polyglandular tumor | GARD:19766 | MONDO:equivalentTo | Multiple polyglandular tumor | | | -| MONDO:0864014 | thymic tumor | GARD:19767 | MONDO:equivalentTo | Thymic tumor | | | -| MONDO:0864015 | neuroendocrine tumor with other location | GARD:19768 | MONDO:equivalentTo | Neuroendocrine tumor with other location | | | -| MONDO:0864016 | fraxf syndrome | GARD:19769 | MONDO:equivalentTo | FRAXF syndrome | | | -| MONDO:0864017 | autosomal dominant complex spastic paraplegia | GARD:19770 | MONDO:equivalentTo | Autosomal dominant complex spastic paraplegia | | | -| MONDO:0864018 | autosomal dominant pure spastic paraplegia | GARD:19771 | MONDO:equivalentTo | Autosomal dominant pure spastic paraplegia | | | -| MONDO:0864019 | autosomal recessive complex spastic paraplegia | GARD:19772 | MONDO:equivalentTo | Autosomal recessive complex spastic paraplegia | | | -| MONDO:0864020 | autosomal recessive pure spastic paraplegia | GARD:19773 | MONDO:equivalentTo | Autosomal recessive pure spastic paraplegia | | | -| MONDO:0864021 | cleft hard palate | GARD:19774 | MONDO:equivalentTo | Cleft hard palate | | | -| MONDO:0864022 | sub-cortical nodular heterotopia | GARD:19775 | MONDO:equivalentTo | Sub-cortical nodular heterotopia | | | -| MONDO:0864023 | congenital aortic valve dysplasia | GARD:19776 | MONDO:equivalentTo | Congenital aortic valve dysplasia | | | -| MONDO:0864024 | unilateral hemispheric polymicrogyria | GARD:19777 | MONDO:equivalentTo | Unilateral hemispheric polymicrogyria | | | -| MONDO:0864025 | aregenerative anemia | GARD:19778 | MONDO:equivalentTo | Aregenerative anemia | | | -| MONDO:0864026 | marin-amat syndrome | GARD:19779 | MONDO:equivalentTo | Marin-Amat syndrome | | | -| MONDO:0864027 | pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome | GARD:19780 | MONDO:equivalentTo | Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome | | | -| MONDO:0864028 | african tick typhus | GARD:19781 | MONDO:equivalentTo | African tick typhus | | | -| MONDO:0864029 | rare genetic eye disease | GARD:19782 | MONDO:equivalentTo | Rare genetic eye disease | | | -| MONDO:0864030 | rare non-syndromic intellectual disability | GARD:19783 | MONDO:equivalentTo | Rare non-syndromic intellectual disability | | | -| MONDO:0864031 | anomaly of the mitral subvalvular apparatus | GARD:19784 | MONDO:equivalentTo | Anomaly of the mitral subvalvular apparatus | | | -| MONDO:0864032 | genetic cardiac rhythm disease | GARD:19785 | MONDO:equivalentTo | Genetic cardiac rhythm disease | | | -| MONDO:0864033 | rare gastroesophageal disease | GARD:19786 | MONDO:equivalentTo | Rare gastroesophageal disease | | | -| MONDO:0864034 | rare pancreatic disease | GARD:19787 | MONDO:equivalentTo | Rare pancreatic disease | | | -| MONDO:0864035 | rare vascular liver disease | GARD:19788 | MONDO:equivalentTo | Rare vascular liver disease | | | -| MONDO:0864036 | rare parenchymal liver disease | GARD:19789 | MONDO:equivalentTo | Rare parenchymal liver disease | | | -| MONDO:0864037 | rare metabolic liver disease | GARD:19790 | MONDO:equivalentTo | Rare metabolic liver disease | | | -| MONDO:0864038 | rare biliary tract disease | GARD:19791 | MONDO:equivalentTo | Rare biliary tract disease | | | -| MONDO:0864039 | rare hepatic and biliary tract tumor | GARD:19792 | MONDO:equivalentTo | Rare hepatic and biliary tract tumor | | | -| MONDO:0864040 | rare pulmonary disease | GARD:19793 | MONDO:equivalentTo | Rare pulmonary disease | | | -| MONDO:0864041 | rare bronchopulmonary tumor | GARD:19794 | MONDO:equivalentTo | Rare bronchopulmonary tumor | | | -| MONDO:0864042 | rare eye tumor | GARD:19795 | MONDO:equivalentTo | Rare eye tumor | | | -| MONDO:0864043 | rare diabetes mellitus | GARD:19796 | MONDO:equivalentTo | Rare diabetes mellitus | | | -| MONDO:0864044 | rare dyslipidemia | GARD:19797 | MONDO:equivalentTo | Rare dyslipidemia | | | -| MONDO:0864045 | rare adrenal disease | GARD:19798 | MONDO:equivalentTo | Rare adrenal disease | | | -| MONDO:0864046 | rare thyroid disease | GARD:19799 | MONDO:equivalentTo | Rare thyroid disease | | | -| MONDO:0864047 | proximal spinal muscular atrophy type 3 | GARD:198 | MONDO:equivalentTo | Proximal spinal muscular atrophy type 3 | | | -| MONDO:0864048 | polyendocrinopathy | GARD:19800 | MONDO:equivalentTo | Polyendocrinopathy | | | -| MONDO:0864049 | pituitary deficiency | GARD:19801 | MONDO:equivalentTo | Pituitary deficiency | | | -| MONDO:0864050 | primary adrenal insufficiency | GARD:19802 | MONDO:equivalentTo | Primary adrenal insufficiency | | | -| MONDO:0864051 | chronic primary adrenal insufficiency | GARD:19803 | MONDO:equivalentTo | Chronic primary adrenal insufficiency | | | -| MONDO:0864052 | genetic chronic primary adrenal insufficiency | GARD:19804 | MONDO:equivalentTo | Genetic chronic primary adrenal insufficiency | | | -| MONDO:0864053 | acquired chronic primary adrenal insufficiency | GARD:19805 | MONDO:equivalentTo | Acquired chronic primary adrenal insufficiency | | | -| MONDO:0864054 | combined t and b cell immunodeficiency | GARD:19806 | MONDO:equivalentTo | Combined T and B cell immunodeficiency | | | -| MONDO:0864055 | immunodeficiency predominantly affecting antibody production | GARD:19807 | MONDO:equivalentTo | Immunodeficiency predominantly affecting antibody production | | | -| MONDO:0864056 | quantitative and/or qualitative congenital phagocyte defect | GARD:19808 | MONDO:equivalentTo | Quantitative and/or qualitative congenital phagocyte defect | | | -| MONDO:0864057 | constitutional neutropenia | GARD:19809 | MONDO:equivalentTo | Constitutional neutropenia | | | -| MONDO:0864058 | primary immunodeficiency due to a defect in innate immunity | GARD:19810 | MONDO:equivalentTo | Primary immunodeficiency due to a defect in innate immunity | | | -| MONDO:0864059 | immunodeficiency due to a complement cascade protein anomaly | GARD:19811 | MONDO:equivalentTo | Immunodeficiency due to a complement cascade protein anomaly | | | -| MONDO:0864060 | periodic fever syndrome | GARD:19812 | MONDO:equivalentTo | Periodic fever syndrome | | | -| MONDO:0864061 | primary immunodeficiency | GARD:19813 | MONDO:equivalentTo | Primary immunodeficiency | | | -| MONDO:0864062 | rare epilepsy | GARD:19814 | MONDO:equivalentTo | Rare epilepsy | | | -| MONDO:0864063 | medullar disease | GARD:19815 | MONDO:equivalentTo | Medullar disease | | | -| MONDO:0864064 | rare ataxia | GARD:19816 | MONDO:equivalentTo | Rare ataxia | | | -| MONDO:0864065 | rare movement disorder | GARD:19817 | MONDO:equivalentTo | Rare movement disorder | | | -| MONDO:0864066 | brain inflammatory disease | GARD:19818 | MONDO:equivalentTo | Brain inflammatory disease | | | -| MONDO:0864067 | neurovascular malformation | GARD:19819 | MONDO:equivalentTo | Neurovascular malformation | | | -| MONDO:0864068 | other syndrome with lissencephaly as a major feature | GARD:19820 | MONDO:equivalentTo | Other syndrome with lissencephaly as a major feature | | | -| MONDO:0864069 | lissencephaly type 3 | GARD:19821 | MONDO:equivalentTo | Lissencephaly type 3 | | | -| MONDO:0864070 | pure hereditary spastic paraplegia | GARD:19822 | MONDO:equivalentTo | Pure hereditary spastic paraplegia | | | -| MONDO:0864071 | complex hereditary spastic paraplegia | GARD:19823 | MONDO:equivalentTo | Complex hereditary spastic paraplegia | | | -| MONDO:0864072 | autosomal dominant limb-girdle muscular dystrophy | GARD:19824 | MONDO:equivalentTo | Autosomal dominant limb-girdle muscular dystrophy | | | -| MONDO:0864073 | autosomal recessive limb-girdle muscular dystrophy | GARD:19825 | MONDO:equivalentTo | Autosomal recessive limb-girdle muscular dystrophy | | | -| MONDO:0864074 | autosomal monosomy | GARD:19826 | MONDO:equivalentTo | Autosomal monosomy | | | -| MONDO:0864075 | rickettsial disease | GARD:19827 | MONDO:equivalentTo | Rickettsial disease | | | -| MONDO:0864076 | spotted fever rickettsiosis | GARD:19828 | MONDO:equivalentTo | Spotted fever rickettsiosis | | | -| MONDO:0864077 | typhus-group rickettsiosis | GARD:19829 | MONDO:equivalentTo | Typhus-group rickettsiosis | | | -| MONDO:0864078 | human herpesvirus 8-related disorder | GARD:19830 | MONDO:equivalentTo | Human herpesvirus 8-related disorder | | | -| MONDO:0864079 | unexplained periodic fever syndrome | GARD:19831 | MONDO:equivalentTo | Unexplained periodic fever syndrome | | | -| MONDO:0864080 | multiple congenital anomalies/dysmorphic syndrome-intellectual disability | GARD:19832 | MONDO:equivalentTo | Multiple congenital anomalies/dysmorphic syndrome-intellectual disability | | | -| MONDO:0864081 | multiple congenital anomalies/dysmorphic syndrome without intellectual disability | GARD:19833 | MONDO:equivalentTo | Multiple congenital anomalies/dysmorphic syndrome without intellectual disability | | | -| MONDO:0864082 | rare syndromic intellectual disability | GARD:19834 | MONDO:equivalentTo | Rare syndromic intellectual disability | | | -| MONDO:0864083 | acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent | GARD:19835 | MONDO:equivalentTo | Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent | | | -| MONDO:0864084 | acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor | GARD:19836 | MONDO:equivalentTo | Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor | | | -| MONDO:0864085 | acute myeloid leukemia with t(8;21)(q22;q22) translocation | GARD:19837 | MONDO:equivalentTo | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | | | -| MONDO:0864086 | chronic diarrhea due to glucoamylase deficiency | GARD:19838 | MONDO:equivalentTo | Chronic diarrhea due to glucoamylase deficiency | | | -| MONDO:0864087 | congenital enterocyte heparan sulfate deficiency | GARD:19839 | MONDO:equivalentTo | Congenital enterocyte heparan sulfate deficiency | | | -| MONDO:0864088 | undetermined colitis | GARD:19840 | MONDO:equivalentTo | Undetermined colitis | | | -| MONDO:0864089 | congenital intestinal transport defect | GARD:19841 | MONDO:equivalentTo | Congenital intestinal transport defect | | | -| MONDO:0864090 | intestinal disease due to vitamin absorption anomaly | GARD:19842 | MONDO:equivalentTo | Intestinal disease due to vitamin absorption anomaly | | | -| MONDO:0864091 | intestinal disease due to fat malabsorption | GARD:19843 | MONDO:equivalentTo | Intestinal disease due to fat malabsorption | | | -| MONDO:0864092 | congenital intestinal disease due to an enzymatic defect | GARD:19844 | MONDO:equivalentTo | Congenital intestinal disease due to an enzymatic defect | | | -| MONDO:0864093 | congenital enteropathy involving intestinal mucosa development | GARD:19845 | MONDO:equivalentTo | Congenital enteropathy involving intestinal mucosa development | | | -| MONDO:0864094 | rare disease involving intestinal motility | GARD:19846 | MONDO:equivalentTo | Rare disease involving intestinal motility | | | -| MONDO:0864095 | intestinal polyposis syndrome | GARD:19847 | MONDO:equivalentTo | Intestinal polyposis syndrome | | | -| MONDO:0864096 | rare tumor of intestine | GARD:19848 | MONDO:equivalentTo | Rare tumor of intestine | | | -| MONDO:0864097 | rare inflammatory bowel disease | GARD:19849 | MONDO:equivalentTo | Rare inflammatory bowel disease | | | -| MONDO:0864098 | metabolic disease with intestinal involvement | GARD:19850 | MONDO:equivalentTo | Metabolic disease with intestinal involvement | | | -| MONDO:0864099 | adenocarcinoma of the small intestine | GARD:19851 | MONDO:equivalentTo | Adenocarcinoma of the small intestine | | | -| MONDO:0864100 | leiomyosarcoma of small intestine | GARD:19852 | MONDO:equivalentTo | Leiomyosarcoma of small intestine | | | -| MONDO:0864101 | myopathic intestinal pseudoobstruction | GARD:19853 | MONDO:equivalentTo | Myopathic intestinal pseudoobstruction | | | -| MONDO:0864102 | unclassified intestinal pseudoobstruction | GARD:19854 | MONDO:equivalentTo | Unclassified intestinal pseudoobstruction | | | -| MONDO:0864103 | non-syndromic esophageal malformation | GARD:19855 | MONDO:equivalentTo | Non-syndromic esophageal malformation | | | -| MONDO:0864104 | syndromic esophageal malformation | GARD:19856 | MONDO:equivalentTo | Syndromic esophageal malformation | | | -| MONDO:0864105 | non-syndromic gastroduodenal malformation | GARD:19857 | MONDO:equivalentTo | Non-syndromic gastroduodenal malformation | | | -| MONDO:0864106 | syndromic gastroduodenal malformation | GARD:19858 | MONDO:equivalentTo | Syndromic gastroduodenal malformation | | | -| MONDO:0864107 | non-syndromic intestinal malformation | GARD:19859 | MONDO:equivalentTo | Non-syndromic intestinal malformation | | | -| MONDO:0864108 | syndromic intestinal malformation | GARD:19860 | MONDO:equivalentTo | Syndromic intestinal malformation | | | -| MONDO:0864109 | non-syndromic visceral malformation | GARD:19861 | MONDO:equivalentTo | Non-syndromic visceral malformation | | | -| MONDO:0864110 | syndromic visceral malformation | GARD:19862 | MONDO:equivalentTo | Syndromic visceral malformation | | | -| MONDO:0864111 | non-syndromic diaphragmatic or abdominal wall malformation | GARD:19863 | MONDO:equivalentTo | Non-syndromic diaphragmatic or abdominal wall malformation | | | -| MONDO:0864112 | syndromic diaphragmatic or abdominal wall malformation | GARD:19864 | MONDO:equivalentTo | Syndromic diaphragmatic or abdominal wall malformation | | | -| MONDO:0864113 | non-syndromic central nervous system malformation | GARD:19865 | MONDO:equivalentTo | Non-syndromic central nervous system malformation | | | -| MONDO:0864114 | syndrome with a central nervous system malformation as a major feature | GARD:19866 | MONDO:equivalentTo | Syndrome with a central nervous system malformation as a major feature | | | -| MONDO:0864115 | non-syndromic respiratory or mediastinal malformation | GARD:19867 | MONDO:equivalentTo | Non-syndromic respiratory or mediastinal malformation | | | -| MONDO:0864116 | syndromic respiratory or mediastinal malformation | GARD:19868 | MONDO:equivalentTo | Syndromic respiratory or mediastinal malformation | | | -| MONDO:0864117 | rare anemia | GARD:19869 | MONDO:equivalentTo | Rare anemia | | | -| MONDO:0864118 | arthrogryposis syndrome | GARD:19870 | MONDO:equivalentTo | Arthrogryposis syndrome | | | -| MONDO:0864119 | syndrome with limb malformations as a major feature | GARD:19871 | MONDO:equivalentTo | Syndrome with limb malformations as a major feature | | | -| MONDO:0864120 | non-syndromic limb malformation | GARD:19872 | MONDO:equivalentTo | Non-syndromic limb malformation | | | -| MONDO:0864121 | rare intestinal disease | GARD:19873 | MONDO:equivalentTo | Rare intestinal disease | | | -| MONDO:0864122 | syndromic anorectal malformation | GARD:19874 | MONDO:equivalentTo | Syndromic anorectal malformation | | | -| MONDO:0864123 | neonatal hypoxic and ischemic brain injury | GARD:19875 | MONDO:equivalentTo | Neonatal hypoxic and ischemic brain injury | | | -| MONDO:0864124 | vulvar intraepithelial neoplasia | GARD:19876 | MONDO:equivalentTo | Vulvar intraepithelial neoplasia | | | -| MONDO:0864125 | infectious epithelial keratitis | GARD:19877 | MONDO:equivalentTo | Infectious epithelial keratitis | | | -| MONDO:0864126 | neurotrophic keratopathy | GARD:19878 | MONDO:equivalentTo | Neurotrophic keratopathy | | | -| MONDO:0864127 | herpes simplex virus stromal keratitis | GARD:19879 | MONDO:equivalentTo | Herpes simplex virus stromal keratitis | | | -| MONDO:0864128 | corneal endotheliitis | GARD:19880 | MONDO:equivalentTo | Corneal endotheliitis | | | -| MONDO:0864129 | segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | GARD:19881 | MONDO:equivalentTo | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | | | -| MONDO:0864130 | intractable diarrhea-choanal atresia-eye anomalies syndrome | GARD:19882 | MONDO:equivalentTo | Intractable diarrhea-choanal atresia-eye anomalies syndrome | | | -| MONDO:0864131 | cardiac anomalies-heterotaxy syndrome | GARD:19883 | MONDO:equivalentTo | Cardiac anomalies-heterotaxy syndrome | | | -| MONDO:0864132 | cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk | GARD:19884 | MONDO:equivalentTo | Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk | | | -| MONDO:0864133 | macular amyloidosis | GARD:19885 | MONDO:equivalentTo | Macular amyloidosis | | | -| MONDO:0864134 | extrapelvic endometriosis | GARD:19886 | MONDO:equivalentTo | Extrapelvic endometriosis | | | -| MONDO:0864135 | madras motor neuron disease | GARD:19887 | MONDO:equivalentTo | Madras motor neuron disease | | | -| MONDO:0864136 | syndromic optic nerve hypoplasia | GARD:19888 | MONDO:equivalentTo | Syndromic optic nerve hypoplasia | | | -| MONDO:0864137 | choanal atresia, unilateral | GARD:19889 | MONDO:equivalentTo | Choanal atresia, unilateral | | | -| MONDO:0864138 | choanal atresia, bilateral | GARD:19890 | MONDO:equivalentTo | Choanal atresia, bilateral | | | -| MONDO:0864139 | primary laryngeal lymphangioma | GARD:19891 | MONDO:equivalentTo | Primary laryngeal lymphangioma | | | -| MONDO:0864140 | neonatal brainstem dysfunction | GARD:19892 | MONDO:equivalentTo | Neonatal brainstem dysfunction | | | -| MONDO:0864141 | laryngotracheal angioma | GARD:19893 | MONDO:equivalentTo | Laryngotracheal angioma | | | -| MONDO:0864142 | pierre robin syndrome associated with collagen disease | GARD:19894 | MONDO:equivalentTo | Pierre Robin syndrome associated with collagen disease | | | -| MONDO:0864143 | rare disease with pierre robin syndrome | GARD:19895 | MONDO:equivalentTo | Rare disease with Pierre Robin syndrome | | | -| MONDO:0864144 | pierre robin syndrome associated with a chromosomal anomaly | GARD:19896 | MONDO:equivalentTo | Pierre Robin syndrome associated with a chromosomal anomaly | | | -| MONDO:0864145 | pierre robin syndrome associated with branchial archs anomalies | GARD:19897 | MONDO:equivalentTo | Pierre Robin syndrome associated with branchial archs anomalies | | | -| MONDO:0864146 | pierre robin syndrome associated with bone disease | GARD:19898 | MONDO:equivalentTo | Pierre Robin syndrome associated with bone disease | | | -| MONDO:0864147 | teratogenic pierre robin syndrome | GARD:19899 | MONDO:equivalentTo | Teratogenic Pierre Robin syndrome | | | -| MONDO:0864148 | developmental anomaly of metabolic origin | GARD:19900 | MONDO:equivalentTo | Developmental anomaly of metabolic origin | | | -| MONDO:0864149 | rare bone development disorder | GARD:19901 | MONDO:equivalentTo | Rare bone development disorder | | | -| MONDO:0864150 | malformation syndrome with short stature | GARD:19902 | MONDO:equivalentTo | Malformation syndrome with short stature | | | -| MONDO:0864151 | overgrowth/obesity syndrome | GARD:19903 | MONDO:equivalentTo | Overgrowth/obesity syndrome | | | -| MONDO:0864152 | rare developmental defect with skin/mucosae involvement | GARD:19904 | MONDO:equivalentTo | Rare developmental defect with skin/mucosae involvement | | | -| MONDO:0864153 | rare developmental defect with connective tissue involvement | GARD:19905 | MONDO:equivalentTo | Rare developmental defect with connective tissue involvement | | | -| MONDO:0864154 | progeroid syndrome | GARD:19906 | MONDO:equivalentTo | Progeroid syndrome | | | -| MONDO:0864155 | branchial arch or oral-acral syndrome | GARD:19907 | MONDO:equivalentTo | Branchial arch or oral-acral syndrome | | | -| MONDO:0864156 | orofacial clefting syndrome | GARD:19908 | MONDO:equivalentTo | Orofacial clefting syndrome | | | -| MONDO:0864157 | malformation syndrome with odontal and/or periodontal component | GARD:19909 | MONDO:equivalentTo | Malformation syndrome with odontal and/or periodontal component | | | -| MONDO:0864158 | non-syndromic craniosynostosis | GARD:19910 | MONDO:equivalentTo | Non-syndromic craniosynostosis | | | -| MONDO:0864159 | syndromic craniosynostosis | GARD:19911 | MONDO:equivalentTo | Syndromic craniosynostosis | | | -| MONDO:0864160 | congenital panfollicular nevus | GARD:19912 | MONDO:equivalentTo | Congenital panfollicular nevus | | | -| MONDO:0864161 | acute transverse myelitis | GARD:19913 | MONDO:equivalentTo | Acute transverse myelitis | | | -| MONDO:0864162 | idiopathic acute transverse myelitis | GARD:19914 | MONDO:equivalentTo | Idiopathic acute transverse myelitis | | | -| MONDO:0864163 | perioral myoclonia with absences | GARD:19915 | MONDO:equivalentTo | Perioral myoclonia with absences | | | -| MONDO:0864164 | jeavons syndrome | GARD:19916 | MONDO:equivalentTo | Jeavons syndrome | | | -| MONDO:0864165 | leukoencephalopathy with bilateral anterior temporal lobe cysts | GARD:19917 | MONDO:equivalentTo | Leukoencephalopathy with bilateral anterior temporal lobe cysts | | | -| MONDO:0864166 | progressive cavitating leukoencephalopathy | GARD:19918 | MONDO:equivalentTo | Progressive cavitating leukoencephalopathy | | | -| MONDO:0864167 | neuropathy with hearing impairment | GARD:19919 | MONDO:equivalentTo | Neuropathy with hearing impairment | | | -| MONDO:0864168 | hereditary sensory and autonomic neuropathy with deafness and global delay | GARD:19920 | MONDO:equivalentTo | Hereditary sensory and autonomic neuropathy with deafness and global delay | | | -| MONDO:0864169 | inherited cancer-predisposing syndrome | GARD:19921 | MONDO:equivalentTo | Inherited cancer-predisposing syndrome | | | -| MONDO:0864170 | secondary hypoparathyroidism due to impaired parathormon secretion | GARD:19922 | MONDO:equivalentTo | Secondary hypoparathyroidism due to impaired parathormon secretion | | | -| MONDO:0864171 | autosomal dominant hereditary demyelinating motor and sensory neuropathy | GARD:19923 | MONDO:equivalentTo | Autosomal dominant hereditary demyelinating motor and sensory neuropathy | | | -| MONDO:0864172 | autosomal dominant hereditary axonal motor and sensory neuropathy | GARD:19924 | MONDO:equivalentTo | Autosomal dominant hereditary axonal motor and sensory neuropathy | | | -| MONDO:0864173 | autosomal recessive hereditary demyelinating motor and sensory neuropathy | GARD:19925 | MONDO:equivalentTo | Autosomal recessive hereditary demyelinating motor and sensory neuropathy | | | -| MONDO:0864174 | autosomal dominant distal hereditary motor neuropathy | GARD:19926 | MONDO:equivalentTo | Autosomal dominant distal hereditary motor neuropathy | | | -| MONDO:0864175 | autosomal recessive distal hereditary motor neuropathy | GARD:19927 | MONDO:equivalentTo | Autosomal recessive distal hereditary motor neuropathy | | | -| MONDO:0864176 | autosomal dominant hereditary sensory and autonomic neuropathy | GARD:19928 | MONDO:equivalentTo | Autosomal dominant hereditary sensory and autonomic neuropathy | | | -| MONDO:0864177 | autosomal recessive hereditary sensory and autonomic neuropathy | GARD:19929 | MONDO:equivalentTo | Autosomal recessive hereditary sensory and autonomic neuropathy | | | -| MONDO:0864178 | ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome | GARD:1993 | MONDO:equivalentTo | Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome | | | -| MONDO:0864179 | neuro-ophthalmological disease | GARD:19930 | MONDO:equivalentTo | Neuro-ophthalmological disease | | | -| MONDO:0864180 | joubert syndrome and related disorders | GARD:19931 | MONDO:equivalentTo | Joubert syndrome and related disorders | | | -| MONDO:0864181 | linear atrophoderma of moulin | GARD:19932 | MONDO:equivalentTo | Linear atrophoderma of Moulin | | | -| MONDO:0864182 | low-flow priapism | GARD:19933 | MONDO:equivalentTo | Low-flow priapism | | | -| MONDO:0864183 | first branchial cleft anomaly | GARD:19934 | MONDO:equivalentTo | First branchial cleft anomaly | | | -| MONDO:0864184 | third branchial cleft anomaly | GARD:19935 | MONDO:equivalentTo | Third branchial cleft anomaly | | | -| MONDO:0864185 | fourth branchial cleft anomaly | GARD:19936 | MONDO:equivalentTo | Fourth branchial cleft anomaly | | | -| MONDO:0864186 | cervical dermoid cyst | GARD:19937 | MONDO:equivalentTo | Cervical dermoid cyst | | | -| MONDO:0864187 | facial dermoid cyst | GARD:19938 | MONDO:equivalentTo | Facial dermoid cyst | | | -| MONDO:0864188 | commissural lip fistula | GARD:19939 | MONDO:equivalentTo | Commissural lip fistula | | | -| MONDO:0864189 | dyschondrosteosis-nephritis syndrome | GARD:1994 | MONDO:equivalentTo | Dyschondrosteosis-nephritis syndrome | | | -| MONDO:0864190 | lower lip fistula | GARD:19940 | MONDO:equivalentTo | Lower lip fistula | | | -| MONDO:0864191 | cervicofacial fibrochondroma | GARD:19941 | MONDO:equivalentTo | Cervicofacial fibrochondroma | | | -| MONDO:0864192 | digestive duplication cyst of the tongue | GARD:19942 | MONDO:equivalentTo | Digestive duplication cyst of the tongue | | | -| MONDO:0864193 | epignathus | GARD:19943 | MONDO:equivalentTo | Epignathus | | | -| MONDO:0864194 | nasolacrimal duct cyst | GARD:19944 | MONDO:equivalentTo | Nasolacrimal duct cyst | | | -| MONDO:0864195 | polyrrhinia | GARD:19945 | MONDO:equivalentTo | Polyrrhinia | | | -| MONDO:0864196 | supernumerary nostril | GARD:19946 | MONDO:equivalentTo | Supernumerary nostril | | | -| MONDO:0864197 | proboscis lateralis | GARD:19947 | MONDO:equivalentTo | Proboscis lateralis | | | -| MONDO:0864198 | nasopharyngeal teratoma | GARD:19948 | MONDO:equivalentTo | Nasopharyngeal teratoma | | | -| MONDO:0864199 | nasal glial heterotopia | GARD:19949 | MONDO:equivalentTo | Nasal glial heterotopia | | | -| MONDO:0864200 | nasal ganglioglioma | GARD:19950 | MONDO:equivalentTo | Nasal ganglioglioma | | | -| MONDO:0864201 | nasal encephalocele | GARD:19951 | MONDO:equivalentTo | Nasal encephalocele | | | -| MONDO:0864202 | congenital subglottic stenosis | GARD:19952 | MONDO:equivalentTo | Congenital subglottic stenosis | | | -| MONDO:0864203 | congenital laryngeal cyst | GARD:19953 | MONDO:equivalentTo | Congenital laryngeal cyst | | | -| MONDO:0864204 | glossopalatine ankylosis | GARD:19954 | MONDO:equivalentTo | Glossopalatine ankylosis | | | -| MONDO:0864205 | frontonasal arteriovenous malformation | GARD:19955 | MONDO:equivalentTo | Frontonasal arteriovenous malformation | | | -| MONDO:0864206 | maxillary arteriovenous malformation | GARD:19956 | MONDO:equivalentTo | Maxillary arteriovenous malformation | | | -| MONDO:0864207 | mandibular arteriovenous malformation | GARD:19957 | MONDO:equivalentTo | Mandibular arteriovenous malformation | | | -| MONDO:0864208 | rapidly involuting congenital hemangioma | GARD:19958 | MONDO:equivalentTo | Rapidly involuting congenital hemangioma | | | -| MONDO:0864209 | cerebrofacial arteriovenous metameric syndrome type 1 | GARD:19959 | MONDO:equivalentTo | Cerebrofacial arteriovenous metameric syndrome type 1 | | | -| MONDO:0864210 | dyschromatosis universalis hereditaria | GARD:1996 | MONDO:equivalentTo | Dyschromatosis universalis hereditaria | | | -| MONDO:0864211 | cerebrofacial arteriovenous metameric syndrome type 3 | GARD:19960 | MONDO:equivalentTo | Cerebrofacial arteriovenous metameric syndrome type 3 | | | -| MONDO:0864212 | diffuse lymphatic malformation | GARD:19961 | MONDO:equivalentTo | Diffuse lymphatic malformation | | | -| MONDO:0864213 | isolated congenital syngnathia | GARD:19962 | MONDO:equivalentTo | Isolated congenital syngnathia | | | -| MONDO:0864214 | nasal dorsum fistula | GARD:19963 | MONDO:equivalentTo | Nasal dorsum fistula | | | -| MONDO:0864215 | facial cleft | GARD:19964 | MONDO:equivalentTo | Facial cleft | | | -| MONDO:0864216 | median facial cleft | GARD:19965 | MONDO:equivalentTo | Median facial cleft | | | -| MONDO:0864217 | median cleft of the upper lip and maxilla | GARD:19966 | MONDO:equivalentTo | Median cleft of the upper lip and maxilla | | | -| MONDO:0864218 | oblique facial cleft | GARD:19967 | MONDO:equivalentTo | Oblique facial cleft | | | -| MONDO:0864219 | tessier number 5 facial cleft | GARD:19968 | MONDO:equivalentTo | Tessier number 5 facial cleft | | | -| MONDO:0864220 | tessier number 6 facial cleft | GARD:19969 | MONDO:equivalentTo | Tessier number 6 facial cleft | | | -| MONDO:0864221 | lateral facial cleft | GARD:19970 | MONDO:equivalentTo | Lateral facial cleft | | | -| MONDO:0864222 | midline cervical cleft | GARD:19971 | MONDO:equivalentTo | Midline cervical cleft | | | -| MONDO:0864223 | rare head and neck malformation | GARD:19972 | MONDO:equivalentTo | Rare head and neck malformation | | | -| MONDO:0864224 | cysts and fistulae of the face and oral cavity | GARD:19973 | MONDO:equivalentTo | Cysts and fistulae of the face and oral cavity | | | -| MONDO:0864225 | pinnae fistula or cyst | GARD:19974 | MONDO:equivalentTo | Pinnae fistula or cyst | | | -| MONDO:0864226 | paramedian facial cleft | GARD:19975 | MONDO:equivalentTo | Paramedian facial cleft | | | -| MONDO:0864227 | submucosal cleft palate | GARD:19976 | MONDO:equivalentTo | Submucosal cleft palate | | | -| MONDO:0864228 | coloboma of superior eyelid | GARD:19977 | MONDO:equivalentTo | Coloboma of superior eyelid | | | -| MONDO:0864229 | coloboma of inferior eyelid | GARD:19978 | MONDO:equivalentTo | Coloboma of inferior eyelid | | | -| MONDO:0864230 | otomandibular dysplasia | GARD:19979 | MONDO:equivalentTo | Otomandibular dysplasia | | | -| MONDO:0864231 | dysequilibrium syndrome | GARD:1998 | MONDO:equivalentTo | Dysequilibrium syndrome | | | -| MONDO:0864232 | mandibulofacial dysostosis | GARD:19980 | MONDO:equivalentTo | Mandibulofacial dysostosis | | | -| MONDO:0864233 | predominantly large-vessel vasculitis | GARD:19981 | MONDO:equivalentTo | Predominantly large-vessel vasculitis | | | -| MONDO:0864234 | predominantly medium-vessel vasculitis | GARD:19982 | MONDO:equivalentTo | Predominantly medium-vessel vasculitis | | | -| MONDO:0864235 | predominantly small-vessel vasculitis | GARD:19983 | MONDO:equivalentTo | Predominantly small-vessel vasculitis | | | -| MONDO:0864236 | immune complex mediated vasculitis | GARD:19984 | MONDO:equivalentTo | Immune complex mediated vasculitis | | | -| MONDO:0864237 | isolated dystonia | GARD:19985 | MONDO:equivalentTo | Isolated dystonia | | | -| MONDO:0864238 | renal ciliopathy | GARD:19986 | MONDO:equivalentTo | Renal ciliopathy | | | -| MONDO:0864239 | retinal ciliopathy | GARD:19987 | MONDO:equivalentTo | Retinal ciliopathy | | | -| MONDO:0864240 | retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | GARD:19988 | MONDO:equivalentTo | Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | | | -| MONDO:0864241 | retinal ciliopathy due to mutation in the rpgr gene | GARD:19989 | MONDO:equivalentTo | Retinal ciliopathy due to mutation in the RPGR gene | | | -| MONDO:0864242 | congenital dyserythropoietic anemia | GARD:1999 | MONDO:equivalentTo | Congenital dyserythropoietic anemia | | | -| MONDO:0864243 | retinal ciliopathy due to mutation in the rpgrip gene | GARD:19990 | MONDO:equivalentTo | Retinal ciliopathy due to mutation in the RPGRIP gene | | | -| MONDO:0864244 | retinal ciliopathy due to mutation in usher gene | GARD:19991 | MONDO:equivalentTo | Retinal ciliopathy due to mutation in Usher gene | | | -| MONDO:0864245 | retinal ciliopathy due to mutation in nephronophthisis gene | GARD:19992 | MONDO:equivalentTo | Retinal ciliopathy due to mutation in nephronophthisis gene | | | -| MONDO:0864246 | retinal ciliopathy due to mutation in bardet-biedl gene | GARD:19993 | MONDO:equivalentTo | Retinal ciliopathy due to mutation in Bardet-Biedl gene | | | -| MONDO:0864247 | otomandibular dysplasia associated with monogenic syndromes | GARD:19994 | MONDO:equivalentTo | Otomandibular dysplasia associated with monogenic syndromes | | | -| MONDO:0864248 | hypoglossia/aglossia | GARD:19995 | MONDO:equivalentTo | Hypoglossia/aglossia | | | -| MONDO:0864249 | oromandibular-limb anomalies syndrome | GARD:19996 | MONDO:equivalentTo | Oromandibular-limb anomalies syndrome | | | -| MONDO:0864250 | paralytic facial malformation | GARD:19997 | MONDO:equivalentTo | Paralytic facial malformation | | | -| MONDO:0864251 | syndrome or malformation associated with head and neck malformations | GARD:19998 | MONDO:equivalentTo | Syndrome or malformation associated with head and neck malformations | | | -| MONDO:0864252 | pinnae and external auditory canal anomaly | GARD:19999 | MONDO:equivalentTo | Pinnae and external auditory canal anomaly | | | -| MONDO:0864253 | central serous chorioretinopathy | GARD:200 | MONDO:equivalentTo | Central serous chorioretinopathy | | | -| MONDO:0864254 | congenital dyserythropoietic anemia type i | GARD:2000 | MONDO:equivalentTo | Congenital dyserythropoietic anemia type I | | | -| MONDO:0864255 | nose and cavum anomaly | GARD:20000 | MONDO:equivalentTo | Nose and cavum anomaly | | | -| MONDO:0864256 | larynx anomaly | GARD:20001 | MONDO:equivalentTo | Larynx anomaly | | | -| MONDO:0864257 | tracheal anomaly | GARD:20002 | MONDO:equivalentTo | Tracheal anomaly | | | -| MONDO:0864258 | rare syndrome with cardiac malformations | GARD:20003 | MONDO:equivalentTo | Rare syndrome with cardiac malformations | | | -| MONDO:0864259 | rare genetic hepatic disease | GARD:20004 | MONDO:equivalentTo | Rare genetic hepatic disease | | | -| MONDO:0864260 | genetic parenchymatous liver disease | GARD:20005 | MONDO:equivalentTo | Genetic parenchymatous liver disease | | | -| MONDO:0864261 | genetic biliary tract disease | GARD:20006 | MONDO:equivalentTo | Genetic biliary tract disease | | | -| MONDO:0864262 | rare genetic respiratory disease | GARD:20007 | MONDO:equivalentTo | Rare genetic respiratory disease | | | -| MONDO:0864263 | rare genetic urogenital disease | GARD:20008 | MONDO:equivalentTo | Rare genetic urogenital disease | | | -| MONDO:0864264 | genetic urogenital tract malformation | GARD:20009 | MONDO:equivalentTo | Genetic urogenital tract malformation | | | -| MONDO:0864265 | congenital dyserythropoietic anemia type ii | GARD:2001 | MONDO:equivalentTo | Congenital dyserythropoietic anemia type II | | | -| MONDO:0864266 | rare genetic cause of hypertension | GARD:20010 | MONDO:equivalentTo | Rare genetic cause of hypertension | | | -| MONDO:0864267 | rare genetic endocrine disease | GARD:20011 | MONDO:equivalentTo | Rare genetic endocrine disease | | | -| MONDO:0864268 | genetic endocrine growth disease | GARD:20012 | MONDO:equivalentTo | Genetic endocrine growth disease | | | -| MONDO:0864269 | situs ambiguus | GARD:20013 | MONDO:equivalentTo | Situs ambiguus | | | -| MONDO:0864270 | epithelioid hemangioendothelioma | GARD:20014 | MONDO:equivalentTo | Epithelioid hemangioendothelioma | | | -| MONDO:0864271 | congenital pseudoarthrosis of the limbs | GARD:20015 | MONDO:equivalentTo | Congenital pseudoarthrosis of the limbs | | | -| MONDO:0864272 | congenital epulis | GARD:20016 | MONDO:equivalentTo | Congenital epulis | | | -| MONDO:0864273 | trigeminal autonomic cephalalgia | GARD:20017 | MONDO:equivalentTo | Trigeminal autonomic cephalalgia | | | -| MONDO:0864274 | generalized eruptive histiocytosis | GARD:20018 | MONDO:equivalentTo | Generalized eruptive histiocytosis | | | -| MONDO:0864275 | benign cephalic histiocytosis | GARD:20019 | MONDO:equivalentTo | Benign cephalic histiocytosis | | | -| MONDO:0864276 | congenital dyserythropoietic anemia type iii | GARD:2002 | MONDO:equivalentTo | Congenital dyserythropoietic anemia type III | | | -| MONDO:0864277 | juvenile xanthogranuloma | GARD:20020 | MONDO:equivalentTo | Juvenile xanthogranuloma | | | -| MONDO:0864278 | papular xanthoma | GARD:20021 | MONDO:equivalentTo | Papular xanthoma | | | -| MONDO:0864279 | indeterminate cell histiocytosis | GARD:20022 | MONDO:equivalentTo | Indeterminate cell histiocytosis | | | -| MONDO:0864280 | progressive nodular histiocytosis | GARD:20023 | MONDO:equivalentTo | Progressive nodular histiocytosis | | | -| MONDO:0864281 | hemophagocytic syndrome | GARD:20024 | MONDO:equivalentTo | Hemophagocytic syndrome | | | -| MONDO:0864282 | primary hemophagocytic lymphohistiocytosis | GARD:20025 | MONDO:equivalentTo | Primary hemophagocytic lymphohistiocytosis | | | -| MONDO:0864283 | secondary hemophagocytic lymphohistiocytosis | GARD:20026 | MONDO:equivalentTo | Secondary hemophagocytic lymphohistiocytosis | | | -| MONDO:0864284 | acquired hemophagocytic lymphohistiocytosis associated with malignant disease | GARD:20027 | MONDO:equivalentTo | Acquired hemophagocytic lymphohistiocytosis associated with malignant disease | | | -| MONDO:0864285 | genetic dementia | GARD:20028 | MONDO:equivalentTo | Genetic dementia | | | -| MONDO:0864286 | huntington disease-like syndrome | GARD:20029 | MONDO:equivalentTo | Huntington disease-like syndrome | | | -| MONDO:0864287 | qualitative or quantitative defects of dysferlin | GARD:2003 | MONDO:equivalentTo | Qualitative or quantitative defects of dysferlin | | | -| MONDO:0864288 | rare genetic hematologic disease | GARD:20030 | MONDO:equivalentTo | Rare genetic hematologic disease | | | -| MONDO:0864289 | localized dystrophic epidermolysis bullosa, acral form | GARD:20031 | MONDO:equivalentTo | Localized dystrophic epidermolysis bullosa, acral form | | | -| MONDO:0864290 | localized dystrophic epidermolysis bullosa, nails only | GARD:20032 | MONDO:equivalentTo | Localized dystrophic epidermolysis bullosa, nails only | | | -| MONDO:0864291 | typical urticaria pigmentosa | GARD:20033 | MONDO:equivalentTo | Typical urticaria pigmentosa | | | -| MONDO:0864292 | plaque-form urticaria pigmentosa | GARD:20034 | MONDO:equivalentTo | Plaque-form urticaria pigmentosa | | | -| MONDO:0864293 | nodular urticaria pigmentosa | GARD:20035 | MONDO:equivalentTo | Nodular urticaria pigmentosa | | | -| MONDO:0864294 | smoldering systemic mastocytosis | GARD:20036 | MONDO:equivalentTo | Smoldering systemic mastocytosis | | | -| MONDO:0864295 | isolated bone marrow mastocytosis | GARD:20037 | MONDO:equivalentTo | Isolated bone marrow mastocytosis | | | -| MONDO:0864296 | cap polyposis | GARD:20038 | MONDO:equivalentTo | Cap polyposis | | | -| MONDO:0864297 | isolated congenital nasal pyriform aperture stenosis | GARD:20039 | MONDO:equivalentTo | Isolated congenital nasal pyriform aperture stenosis | | | -| MONDO:0864298 | familial dysfibrinogenemia | GARD:2004 | MONDO:equivalentTo | Familial dysfibrinogenemia | | | -| MONDO:0864299 | isolated congenital auditory ossicle malformation | GARD:20040 | MONDO:equivalentTo | Isolated congenital auditory ossicle malformation | | | -| MONDO:0864300 | non-syndromic cerebral malformation due to abnormal neuronal migration | GARD:20041 | MONDO:equivalentTo | Non-syndromic cerebral malformation due to abnormal neuronal migration | | | -| MONDO:0864301 | subacute cutaneous lupus erythematosus | GARD:20042 | MONDO:equivalentTo | Subacute cutaneous lupus erythematosus | | | -| MONDO:0864302 | chronic cutaneous lupus erythematosus | GARD:20043 | MONDO:equivalentTo | Chronic cutaneous lupus erythematosus | | | -| MONDO:0864303 | rare bacterial infectious disease | GARD:20044 | MONDO:equivalentTo | Rare bacterial infectious disease | | | -| MONDO:0864304 | rare viral disease | GARD:20045 | MONDO:equivalentTo | Rare viral disease | | | -| MONDO:0864305 | rare parasitic disease | GARD:20046 | MONDO:equivalentTo | Rare parasitic disease | | | -| MONDO:0864306 | rare mycosis | GARD:20047 | MONDO:equivalentTo | Rare mycosis | | | -| MONDO:0864307 | bile acid synthesis defect with cholestasis and malabsorption | GARD:20048 | MONDO:equivalentTo | Bile acid synthesis defect with cholestasis and malabsorption | | | -| MONDO:0864308 | rare disorder related with pregnancy, childbirth and puerperium | GARD:20049 | MONDO:equivalentTo | Rare disorder related with pregnancy, childbirth and puerperium | | | -| MONDO:0864309 | extragonadal germinoma | GARD:2005 | MONDO:equivalentTo | Extragonadal germinoma | | | -| MONDO:0864310 | cryptogenic late-onset epileptic spasms | GARD:20050 | MONDO:equivalentTo | Cryptogenic late-onset epileptic spasms | | | -| MONDO:0864311 | posttransplant acute limbic encephalitis | GARD:20051 | MONDO:equivalentTo | Posttransplant acute limbic encephalitis | | | -| MONDO:0864312 | acrodermatitis continua of hallopeau | GARD:20052 | MONDO:equivalentTo | Acrodermatitis continua of Hallopeau | | | -| MONDO:0864313 | atopic keratoconjunctivitis | GARD:20053 | MONDO:equivalentTo | Atopic keratoconjunctivitis | | | -| MONDO:0864314 | x-linked intellectual disability, cilliers type | GARD:20054 | MONDO:equivalentTo | X-linked intellectual disability, Cilliers type | | | -| MONDO:0864315 | rare odontal or periodontal disorder | GARD:20055 | MONDO:equivalentTo | Rare odontal or periodontal disorder | | | -| MONDO:0864316 | middle ear anomaly | GARD:20056 | MONDO:equivalentTo | Middle ear anomaly | | | -| MONDO:0864317 | acute myeloid leukemia and myelodysplastic syndromes related to radiation | GARD:20057 | MONDO:equivalentTo | Acute myeloid leukemia and myelodysplastic syndromes related to radiation | | | -| MONDO:0864318 | rare acquired aplastic anemia | GARD:20058 | MONDO:equivalentTo | Rare acquired aplastic anemia | | | -| MONDO:0864319 | rare genetic gastroenterological disease | GARD:20059 | MONDO:equivalentTo | Rare genetic gastroenterological disease | | | -| MONDO:0864320 | genetic intestinal disease | GARD:20060 | MONDO:equivalentTo | Genetic intestinal disease | | | -| MONDO:0864321 | genetic gastro-esophageal disease | GARD:20061 | MONDO:equivalentTo | Genetic gastro-esophageal disease | | | -| MONDO:0864322 | genetic pancreatic disease | GARD:20062 | MONDO:equivalentTo | Genetic pancreatic disease | | | -| MONDO:0864323 | non-syndromic urogenital tract malformation | GARD:20063 | MONDO:equivalentTo | Non-syndromic urogenital tract malformation | | | -| MONDO:0864324 | syndromic urogenital tract malformation | GARD:20064 | MONDO:equivalentTo | Syndromic urogenital tract malformation | | | -| MONDO:0864325 | wound myiasis | GARD:20065 | MONDO:equivalentTo | Wound myiasis | | | -| MONDO:0864326 | cavitary myiasis | GARD:20066 | MONDO:equivalentTo | Cavitary myiasis | | | -| MONDO:0864327 | diazoxide-sensitive diffuse hyperinsulinism | GARD:20067 | MONDO:equivalentTo | Diazoxide-sensitive diffuse hyperinsulinism | | | -| MONDO:0864328 | diazoxide-resistant diffuse hyperinsulinism | GARD:20068 | MONDO:equivalentTo | Diazoxide-resistant diffuse hyperinsulinism | | | -| MONDO:0864329 | bazex syndrome | GARD:20069 | MONDO:equivalentTo | Bazex syndrome | | | -| MONDO:0864330 | porokeratotic eccrine ostial and dermal duct nevus | GARD:20070 | MONDO:equivalentTo | Porokeratotic eccrine ostial and dermal duct nevus | | | -| MONDO:0864331 | benign non-familial infantile seizures | GARD:20071 | MONDO:equivalentTo | Benign non-familial infantile seizures | | | -| MONDO:0864332 | benign partial epilepsy of infancy with complex partial seizures | GARD:20072 | MONDO:equivalentTo | Benign partial epilepsy of infancy with complex partial seizures | | | -| MONDO:0864333 | benign partial epilepsy with secondarily generalized seizures in infancy | GARD:20073 | MONDO:equivalentTo | Benign partial epilepsy with secondarily generalized seizures in infancy | | | -| MONDO:0864334 | benign infantile seizures associated with mild gastroenteritis | GARD:20074 | MONDO:equivalentTo | Benign infantile seizures associated with mild gastroenteritis | | | -| MONDO:0864335 | benign infantile focal epilepsy with midline spikes and waves during sleep | GARD:20075 | MONDO:equivalentTo | Benign infantile focal epilepsy with midline spikes and waves during sleep | | | -| MONDO:0864336 | benign partial infantile seizures | GARD:20076 | MONDO:equivalentTo | Benign partial infantile seizures | | | -| MONDO:0864337 | audiogenic seizures | GARD:20077 | MONDO:equivalentTo | Audiogenic seizures | | | -| MONDO:0864338 | eating reflex epilepsy | GARD:20078 | MONDO:equivalentTo | Eating reflex epilepsy | | | -| MONDO:0864339 | orgasm-induced seizures | GARD:20079 | MONDO:equivalentTo | Orgasm-induced seizures | | | -| MONDO:0864340 | thinking seizures | GARD:20080 | MONDO:equivalentTo | Thinking seizures | | | -| MONDO:0864341 | startle epilepsy | GARD:20081 | MONDO:equivalentTo | Startle epilepsy | | | -| MONDO:0864342 | micturation-induced seizures | GARD:20082 | MONDO:equivalentTo | Micturation-induced seizures | | | -| MONDO:0864343 | epilepsy syndrome | GARD:20083 | MONDO:equivalentTo | Epilepsy syndrome | | | -| MONDO:0864344 | neurocutaneous syndrome with epilepsy | GARD:20084 | MONDO:equivalentTo | Neurocutaneous syndrome with epilepsy | | | -| MONDO:0864345 | chromosomal anomaly with epilepsy as a major feature | GARD:20085 | MONDO:equivalentTo | Chromosomal anomaly with epilepsy as a major feature | | | -| MONDO:0864346 | monogenic disease with epilepsy | GARD:20086 | MONDO:equivalentTo | Monogenic disease with epilepsy | | | -| MONDO:0864347 | idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes | GARD:20087 | MONDO:equivalentTo | Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes | | | -| MONDO:0864348 | cerebral malformation with epilepsy | GARD:20088 | MONDO:equivalentTo | Cerebral malformation with epilepsy | | | -| MONDO:0864349 | metabolic diseases with epilepsy | GARD:20089 | MONDO:equivalentTo | Metabolic diseases with epilepsy | | | -| MONDO:0864350 | dysmorphism-cleft palate-loose skin syndrome | GARD:2009 | MONDO:equivalentTo | Dysmorphism-cleft palate-loose skin syndrome | | | -| MONDO:0864351 | inflammatory and autoimmune disease with epilepsy | GARD:20090 | MONDO:equivalentTo | Inflammatory and autoimmune disease with epilepsy | | | -| MONDO:0864352 | cerebral diseases of vascular origin with epilepsy | GARD:20091 | MONDO:equivalentTo | Cerebral diseases of vascular origin with epilepsy | | | -| MONDO:0864353 | infectious disease with epilepsy | GARD:20092 | MONDO:equivalentTo | Infectious disease with epilepsy | | | -| MONDO:0864354 | rare hemorrhagic disorder due to an acquired coagulation factor defect | GARD:20093 | MONDO:equivalentTo | Rare hemorrhagic disorder due to an acquired coagulation factor defect | | | -| MONDO:0864355 | hereditary dentin defect | GARD:20094 | MONDO:equivalentTo | Hereditary dentin defect | | | -| MONDO:0864356 | rare disease with dentinogenesis imperfecta | GARD:20095 | MONDO:equivalentTo | Rare disease with dentinogenesis imperfecta | | | -| MONDO:0864357 | rare cardiomyopathy | GARD:20096 | MONDO:equivalentTo | Rare cardiomyopathy | | | -| MONDO:0864358 | rare cardiac tumor | GARD:20097 | MONDO:equivalentTo | Rare cardiac tumor | | | -| MONDO:0864359 | dysplasia of head of femur, meyer type | GARD:20098 | MONDO:equivalentTo | Dysplasia of head of femur, Meyer type | | | -| MONDO:0864360 | rare pervasive developmental disorder | GARD:20099 | MONDO:equivalentTo | Rare pervasive developmental disorder | | | -| MONDO:0864361 | ascher syndrome | GARD:201 | MONDO:equivalentTo | Ascher syndrome | | | -| MONDO:0864362 | primary peritoneal tumor | GARD:20100 | MONDO:equivalentTo | Primary peritoneal tumor | | | -| MONDO:0864363 | primary malignant peritoneal tumor | GARD:20101 | MONDO:equivalentTo | Primary malignant peritoneal tumor | | | -| MONDO:0864364 | malignant peritoneal mesothelioma | GARD:20102 | MONDO:equivalentTo | Malignant peritoneal mesothelioma | | | -| MONDO:0864365 | primary peritoneal carcinoma | GARD:20103 | MONDO:equivalentTo | Primary peritoneal carcinoma | | | -| MONDO:0864366 | chronic eosinophilic leukemia | GARD:20104 | MONDO:equivalentTo | Chronic eosinophilic leukemia | | | -| MONDO:0864367 | myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of pdgfra, pdgfrb, fgfr1 or jak2 | GARD:20105 | MONDO:equivalentTo | Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 | | | -| MONDO:0864368 | myeloid/lymphoid neoplasm associated with pdgfra rearrangement | GARD:20106 | MONDO:equivalentTo | Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement | | | -| MONDO:0864369 | myeloid/lymphoid neoplasm associated with pdgfrb rearrangement | GARD:20107 | MONDO:equivalentTo | Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement | | | -| MONDO:0864370 | refractory anemia with excess blasts in transformation | GARD:20108 | MONDO:equivalentTo | Refractory anemia with excess blasts in transformation | | | -| MONDO:0864371 | composite lymphoma | GARD:20109 | MONDO:equivalentTo | Composite lymphoma | | | -| MONDO:0864372 | malignant melanoma of the mucosa | GARD:20110 | MONDO:equivalentTo | Malignant melanoma of the mucosa | | | -| MONDO:0864373 | immunoglobulin heavy chain deficiency | GARD:20111 | MONDO:equivalentTo | Immunoglobulin heavy chain deficiency | | | -| MONDO:0864374 | transient hypogammaglobulinemia of infancy | GARD:20112 | MONDO:equivalentTo | Transient hypogammaglobulinemia of infancy | | | -| MONDO:0864375 | familial scaphocephaly syndrome | GARD:20113 | MONDO:equivalentTo | Familial scaphocephaly syndrome | | | -| MONDO:0864376 | dna repair defect other than combined t-cell and b-cell immunodeficiencies | GARD:20114 | MONDO:equivalentTo | DNA repair defect other than combined T-cell and B-cell immunodeficiencies | | | -| MONDO:0864377 | immuno-osseous dysplasia | GARD:20115 | MONDO:equivalentTo | Immuno-osseous dysplasia | | | -| MONDO:0864378 | immunodeficiency syndrome with autoimmunity | GARD:20116 | MONDO:equivalentTo | Immunodeficiency syndrome with autoimmunity | | | -| MONDO:0864379 | immune dysregulation disease with immunodeficiency | GARD:20117 | MONDO:equivalentTo | Immune dysregulation disease with immunodeficiency | | | -| MONDO:0864380 | specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of b cells | GARD:20118 | MONDO:equivalentTo | Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells | | | -| MONDO:0864381 | idiopathic central precocious puberty | GARD:20119 | MONDO:equivalentTo | Idiopathic central precocious puberty | | | -| MONDO:0864382 | dysosteosclerosis | GARD:2012 | MONDO:equivalentTo | Dysosteosclerosis | | | -| MONDO:0864383 | secondary central precocious puberty | GARD:20120 | MONDO:equivalentTo | Secondary central precocious puberty | | | -| MONDO:0864384 | congenital vitamin k-dependent coagulation factors deficiency | GARD:20121 | MONDO:equivalentTo | Congenital vitamin K-dependent coagulation factors deficiency | | | -| MONDO:0864385 | rectal duplication | GARD:20122 | MONDO:equivalentTo | Rectal duplication | | | -| MONDO:0864386 | limbal stem cell deficiency | GARD:20123 | MONDO:equivalentTo | Limbal stem cell deficiency | | | -| MONDO:0864387 | idiopathic bilateral vestibulopathy | GARD:20124 | MONDO:equivalentTo | Idiopathic bilateral vestibulopathy | | | -| MONDO:0864388 | microcephaly-polymicrogyria-corpus callosum agenesis syndrome | GARD:20125 | MONDO:equivalentTo | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | | | -| MONDO:0864389 | 6q16 microdeletion syndrome | GARD:20126 | MONDO:equivalentTo | 6q16 microdeletion syndrome | | | -| MONDO:0864390 | craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome | GARD:20127 | MONDO:equivalentTo | Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome | | | -| MONDO:0864391 | intellectual disability-cataracts-kyphosis syndrome | GARD:20128 | MONDO:equivalentTo | Intellectual disability-cataracts-kyphosis syndrome | | | -| MONDO:0864392 | myopathy with hexagonally cross-linked tubular arrays | GARD:20129 | MONDO:equivalentTo | Myopathy with hexagonally cross-linked tubular arrays | | | -| MONDO:0864393 | myeloid hemopathy | GARD:20130 | MONDO:equivalentTo | Myeloid hemopathy | | | -| MONDO:0864394 | lymphoid hemopathy | GARD:20131 | MONDO:equivalentTo | Lymphoid hemopathy | | | -| MONDO:0864395 | b-cell non-hodgkin lymphoma | GARD:20132 | MONDO:equivalentTo | B-cell non-Hodgkin lymphoma | | | -| MONDO:0864396 | t-cell non-hodgkin lymphoma | GARD:20133 | MONDO:equivalentTo | T-cell non-Hodgkin lymphoma | | | -| MONDO:0864397 | congenital myopathy with cores | GARD:20134 | MONDO:equivalentTo | Congenital myopathy with cores | | | -| MONDO:0864398 | congenital hypogonadotropic hypogonadism | GARD:20135 | MONDO:equivalentTo | Congenital hypogonadotropic hypogonadism | | | -| MONDO:0864399 | rare adult hypothyroidism | GARD:20136 | MONDO:equivalentTo | Rare adult hypothyroidism | | | -| MONDO:0864400 | syndromic hypothyroidism | GARD:20137 | MONDO:equivalentTo | Syndromic hypothyroidism | | | -| MONDO:0864401 | prader-willi syndrome due to paternal deletion of 15q11q13 type 1 | GARD:20138 | MONDO:equivalentTo | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | -| MONDO:0864402 | prader-willi syndrome due to paternal deletion of 15q11q13 type 2 | GARD:20139 | MONDO:equivalentTo | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | -| MONDO:0864403 | non-acquired combined pituitary hormone deficiencies without extrapituitary malformations | GARD:20140 | MONDO:equivalentTo | Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations | | | -| MONDO:0864404 | rare peripheral precocious puberty | GARD:20141 | MONDO:equivalentTo | Rare peripheral precocious puberty | | | -| MONDO:0864405 | transient congenital hypothyroidism | GARD:20142 | MONDO:equivalentTo | Transient congenital hypothyroidism | | | -| MONDO:0864406 | antenatal multiminicore disease with arthrogryposis multiplex congenita | GARD:20143 | MONDO:equivalentTo | Antenatal multiminicore disease with arthrogryposis multiplex congenita | | | -| MONDO:0864407 | isolated sternocostoclavicular hyperostosis | GARD:20144 | MONDO:equivalentTo | Isolated sternocostoclavicular hyperostosis | | | -| MONDO:0864408 | undifferentiated embryonal sarcoma of the liver | GARD:20145 | MONDO:equivalentTo | Undifferentiated embryonal sarcoma of the liver | | | -| MONDO:0864409 | acute lung injury | GARD:20146 | MONDO:equivalentTo | Acute lung injury | | | -| MONDO:0864410 | osteosclerosis-developmental delay-craniosynostosis syndrome | GARD:20147 | MONDO:equivalentTo | Osteosclerosis-developmental delay-craniosynostosis syndrome | | | -| MONDO:0864411 | hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation | GARD:20148 | MONDO:equivalentTo | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | | | -| MONDO:0864412 | wound botulism | GARD:20149 | MONDO:equivalentTo | Wound botulism | | | -| MONDO:0864413 | peripheral dysostosis | GARD:2015 | MONDO:equivalentTo | Peripheral dysostosis | | | -| MONDO:0864414 | infant botulism | GARD:20150 | MONDO:equivalentTo | Infant botulism | | | -| MONDO:0864415 | intestinal botulism | GARD:20151 | MONDO:equivalentTo | Intestinal botulism | | | -| MONDO:0864416 | adult intestinal botulism | GARD:20152 | MONDO:equivalentTo | Adult intestinal botulism | | | -| MONDO:0864417 | myopic macular degeneration | GARD:20153 | MONDO:equivalentTo | Myopic macular degeneration | | | -| MONDO:0864418 | folliculotropic mycosis fungoides | GARD:20154 | MONDO:equivalentTo | Folliculotropic mycosis fungoides | | | -| MONDO:0864419 | localized pagetoid reticulosis | GARD:20155 | MONDO:equivalentTo | Localized pagetoid reticulosis | | | -| MONDO:0864420 | primary cutaneous cd4+ small/medium-sized pleomorphic t-cell lymphoma | GARD:20156 | MONDO:equivalentTo | Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma | | | -| MONDO:0864421 | primary cutaneous aggressive epidermotropic cd8+ t-cell lymphoma | GARD:20157 | MONDO:equivalentTo | Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma | | | -| MONDO:0864422 | primary cutaneous gamma/delta-positive t-cell lymphoma | GARD:20158 | MONDO:equivalentTo | Primary cutaneous gamma/delta-positive T-cell lymphoma | | | -| MONDO:0864423 | primary cutaneous marginal zone b-cell lymphoma | GARD:20159 | MONDO:equivalentTo | Primary cutaneous marginal zone B-cell lymphoma | | | -| MONDO:0864424 | dysostosis, stanescu type | GARD:2016 | MONDO:equivalentTo | Dysostosis, Stanescu type | | | -| MONDO:0864425 | primary cutaneous diffuse large b-cell lymphoma, leg type | GARD:20160 | MONDO:equivalentTo | Primary cutaneous diffuse large B-cell lymphoma, leg type | | | -| MONDO:0864426 | indolent primary cutaneous t-cell lymphoma | GARD:20161 | MONDO:equivalentTo | Indolent primary cutaneous T-cell lymphoma | | | -| MONDO:0864427 | aggressive primary cutaneous t-cell lymphoma | GARD:20162 | MONDO:equivalentTo | Aggressive primary cutaneous T-cell lymphoma | | | -| MONDO:0864428 | aggressive primary cutaneous b-cell lymphoma | GARD:20163 | MONDO:equivalentTo | Aggressive primary cutaneous B-cell lymphoma | | | -| MONDO:0864429 | indolent primary cutaneous b-cell lymphoma | GARD:20164 | MONDO:equivalentTo | Indolent primary cutaneous B-cell lymphoma | | | -| MONDO:0864430 | primary cutaneous b-cell lymphoma | GARD:20165 | MONDO:equivalentTo | Primary cutaneous B-cell lymphoma | | | -| MONDO:0864431 | mycosis fungoides and variants | GARD:20166 | MONDO:equivalentTo | Mycosis fungoides and variants | | | -| MONDO:0864432 | acquired neutropenia | GARD:20167 | MONDO:equivalentTo | Acquired neutropenia | | | -| MONDO:0864433 | primary immunodeficiency due to a defect in adaptive immunity | GARD:20168 | MONDO:equivalentTo | Primary immunodeficiency due to a defect in adaptive immunity | | | -| MONDO:0864434 | obesity due to congenital leptin resistance | GARD:20169 | MONDO:equivalentTo | Obesity due to congenital leptin resistance | | | -| MONDO:0864435 | uterovaginal malformation | GARD:20170 | MONDO:equivalentTo | Uterovaginal malformation | | | -| MONDO:0864436 | non-syndromic uterovaginal malformation | GARD:20171 | MONDO:equivalentTo | Non-syndromic uterovaginal malformation | | | -| MONDO:0864437 | partial bilateral aplasia of the müllerian ducts | GARD:20172 | MONDO:equivalentTo | Partial bilateral aplasia of the Müllerian ducts | | | -| MONDO:0864438 | unilateral aplasia of the müllerian ducts | GARD:20173 | MONDO:equivalentTo | Unilateral aplasia of the Müllerian ducts | | | -| MONDO:0864439 | true unicornuate uterus | GARD:20174 | MONDO:equivalentTo | True unicornuate uterus | | | -| MONDO:0864440 | pseudounicornuate uterus | GARD:20175 | MONDO:equivalentTo | Pseudounicornuate uterus | | | -| MONDO:0864441 | didelphys uterus | GARD:20176 | MONDO:equivalentTo | Didelphys uterus | | | -| MONDO:0864442 | bicervical bicornuate uterus and blind hemivagina | GARD:20177 | MONDO:equivalentTo | Bicervical bicornuate uterus and blind hemivagina | | | -| MONDO:0864443 | bicervical bicornuate uterus with patent cervix and vagina | GARD:20178 | MONDO:equivalentTo | Bicervical bicornuate uterus with patent cervix and vagina | | | -| MONDO:0864444 | unicervical bicornuate uterus | GARD:20179 | MONDO:equivalentTo | Unicervical bicornuate uterus | | | -| MONDO:0864445 | septate uterus | GARD:20180 | MONDO:equivalentTo | Septate uterus | | | -| MONDO:0864446 | complete septate uterus | GARD:20181 | MONDO:equivalentTo | Complete septate uterus | | | -| MONDO:0864447 | partial septate uterus | GARD:20182 | MONDO:equivalentTo | Partial septate uterus | | | -| MONDO:0864448 | bicornuate uterus | GARD:20183 | MONDO:equivalentTo | Bicornuate uterus | | | -| MONDO:0864449 | uterine hypoplasia | GARD:20184 | MONDO:equivalentTo | Uterine hypoplasia | | | -| MONDO:0864450 | absence of uterine body | GARD:20185 | MONDO:equivalentTo | Absence of uterine body | | | -| MONDO:0864451 | uterine cervical aplasia and agenesis | GARD:20186 | MONDO:equivalentTo | Uterine cervical aplasia and agenesis | | | -| MONDO:0864452 | syndromic uterovaginal malformation | GARD:20187 | MONDO:equivalentTo | Syndromic uterovaginal malformation | | | -| MONDO:0864453 | rare vaginal malformation | GARD:20188 | MONDO:equivalentTo | Rare vaginal malformation | | | -| MONDO:0864454 | septate vagina | GARD:20189 | MONDO:equivalentTo | Septate vagina | | | -| MONDO:0864455 | dysplasia epiphysealis hemimelica | GARD:2019 | MONDO:equivalentTo | Dysplasia epiphysealis hemimelica | | | -| MONDO:0864456 | longitudinal vaginal septum | GARD:20190 | MONDO:equivalentTo | Longitudinal vaginal septum | | | -| MONDO:0864457 | transverse vaginal septum | GARD:20191 | MONDO:equivalentTo | Transverse vaginal septum | | | -| MONDO:0864458 | rare breast malformation | GARD:20192 | MONDO:equivalentTo | Rare breast malformation | | | -| MONDO:0864459 | excess breast volume or number | GARD:20193 | MONDO:equivalentTo | Excess breast volume or number | | | -| MONDO:0864460 | deficient breast volume or number | GARD:20194 | MONDO:equivalentTo | Deficient breast volume or number | | | -| MONDO:0864461 | supernumerary breasts | GARD:20195 | MONDO:equivalentTo | Supernumerary breasts | | | -| MONDO:0864462 | syndromic breast hypoplasia/aplasia | GARD:20196 | MONDO:equivalentTo | Syndromic breast hypoplasia/aplasia | | | -| MONDO:0864463 | rare non-malformative gynecologic or obstetric disease | GARD:20197 | MONDO:equivalentTo | Rare non-malformative gynecologic or obstetric disease | | | -| MONDO:0864464 | rare non-malformative breast disease | GARD:20198 | MONDO:equivalentTo | Rare non-malformative breast disease | | | -| MONDO:0864465 | rare non-malformative uterovaginal or vulvovaginal disease | GARD:20199 | MONDO:equivalentTo | Rare non-malformative uterovaginal or vulvovaginal disease | | | -| MONDO:0864466 | anomaly of puberty or/and menstrual cycle | GARD:20200 | MONDO:equivalentTo | Anomaly of puberty or/and menstrual cycle | | | -| MONDO:0864467 | rare uterine adnexal tumor | GARD:20201 | MONDO:equivalentTo | Rare uterine adnexal tumor | | | -| MONDO:0864468 | mixed germ cell tumor | GARD:20202 | MONDO:equivalentTo | Mixed germ cell tumor | | | -| MONDO:0864469 | benign tumor of fallopian tubes | GARD:20203 | MONDO:equivalentTo | Benign tumor of fallopian tubes | | | -| MONDO:0864470 | malignant tumor of fallopian tubes | GARD:20204 | MONDO:equivalentTo | Malignant tumor of fallopian tubes | | | -| MONDO:0864471 | rare breast tumor | GARD:20205 | MONDO:equivalentTo | Rare breast tumor | | | -| MONDO:0864472 | giant adenofibroma of the breast | GARD:20206 | MONDO:equivalentTo | Giant adenofibroma of the breast | | | -| MONDO:0864473 | rare non-malformative uterine adnexal disease | GARD:20207 | MONDO:equivalentTo | Rare non-malformative uterine adnexal disease | | | -| MONDO:0864474 | rare vulvovaginal tumor | GARD:20208 | MONDO:equivalentTo | Rare vulvovaginal tumor | | | -| MONDO:0864475 | malformative syndrome with dentinogenesis imperfecta | GARD:20209 | MONDO:equivalentTo | Malformative syndrome with dentinogenesis imperfecta | | | -| MONDO:0864476 | non-syndromic diaphragmatic or thoracic malformation | GARD:20211 | MONDO:equivalentTo | Non-syndromic diaphragmatic or thoracic malformation | | | -| MONDO:0864477 | syndromic diaphragmatic or thoracic malformation | GARD:20212 | MONDO:equivalentTo | Syndromic diaphragmatic or thoracic malformation | | | -| MONDO:0864478 | rare gastroesophageal tumor | GARD:20213 | MONDO:equivalentTo | Rare gastroesophageal tumor | | | -| MONDO:0864479 | rare insulin-resistance syndrome | GARD:20214 | MONDO:equivalentTo | Rare insulin-resistance syndrome | | | -| MONDO:0864480 | rare diabetes mellitus type 1 | GARD:20215 | MONDO:equivalentTo | Rare diabetes mellitus type 1 | | | -| MONDO:0864481 | rare diabetes mellitus type 2 | GARD:20216 | MONDO:equivalentTo | Rare diabetes mellitus type 2 | | | -| MONDO:0864482 | other rare diabetes mellitus | GARD:20217 | MONDO:equivalentTo | Other rare diabetes mellitus | | | -| MONDO:0864483 | rare hypothalamic or pituitary disease | GARD:20218 | MONDO:equivalentTo | Rare hypothalamic or pituitary disease | | | -| MONDO:0864484 | rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism | GARD:20219 | MONDO:equivalentTo | Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism | | | -| MONDO:0864485 | dysplastic cortical hyperostosis | GARD:2022 | MONDO:equivalentTo | Dysplastic cortical hyperostosis | | | -| MONDO:0864486 | endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature | GARD:20220 | MONDO:equivalentTo | Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature | | | -| MONDO:0864487 | rare hypothyroidism | GARD:20221 | MONDO:equivalentTo | Rare hypothyroidism | | | -| MONDO:0864488 | rare hyperthyroidism | GARD:20222 | MONDO:equivalentTo | Rare hyperthyroidism | | | -| MONDO:0864489 | syndrome with hypoparathyroidism | GARD:20223 | MONDO:equivalentTo | Syndrome with hypoparathyroidism | | | -| MONDO:0864490 | rare hypoparathyroidism | GARD:20224 | MONDO:equivalentTo | Rare hypoparathyroidism | | | -| MONDO:0864491 | rare hyperparathyroidism | GARD:20225 | MONDO:equivalentTo | Rare hyperparathyroidism | | | -| MONDO:0864492 | adrenogenital syndrome | GARD:20226 | MONDO:equivalentTo | Adrenogenital syndrome | | | -| MONDO:0864493 | rare primary hyperaldosteronism | GARD:20227 | MONDO:equivalentTo | Rare primary hyperaldosteronism | | | -| MONDO:0864494 | rare hypoaldosteronism | GARD:20228 | MONDO:equivalentTo | Rare hypoaldosteronism | | | -| MONDO:0864495 | rare hyperlipidemia | GARD:20229 | MONDO:equivalentTo | Rare hyperlipidemia | | | -| MONDO:0864496 | hyperalphalipoproteinemia | GARD:20230 | MONDO:equivalentTo | Hyperalphalipoproteinemia | | | -| MONDO:0864497 | rare hypolipidemia | GARD:20231 | MONDO:equivalentTo | Rare hypolipidemia | | | -| MONDO:0864498 | rare syndromic dyslipidemia | GARD:20232 | MONDO:equivalentTo | Rare syndromic dyslipidemia | | | -| MONDO:0864499 | rare disorder with hypergonadotropic hypogonadism | GARD:20233 | MONDO:equivalentTo | Rare disorder with hypergonadotropic hypogonadism | | | -| MONDO:0864500 | aplastic anemia | GARD:20234 | MONDO:equivalentTo | Aplastic anemia | | | -| MONDO:0864501 | rare constitutional hemolytic anemia | GARD:20235 | MONDO:equivalentTo | Rare constitutional hemolytic anemia | | | -| MONDO:0864502 | rare acquired hemolytic anemia | GARD:20236 | MONDO:equivalentTo | Rare acquired hemolytic anemia | | | -| MONDO:0864503 | rare thrombotic disease of hematologic origin | GARD:20237 | MONDO:equivalentTo | Rare thrombotic disease of hematologic origin | | | -| MONDO:0864504 | cerebellar malformation | GARD:20238 | MONDO:equivalentTo | Cerebellar malformation | | | -| MONDO:0864505 | rare neuroinflammatory or neuroimmunological disease | GARD:20239 | MONDO:equivalentTo | Rare neuroinflammatory or neuroimmunological disease | | | -| MONDO:0864506 | rare neurodegenerative disease | GARD:20240 | MONDO:equivalentTo | Rare neurodegenerative disease | | | -| MONDO:0864507 | arx-related epileptic encephalopathy | GARD:20241 | MONDO:equivalentTo | ARX-related epileptic encephalopathy | | | -| MONDO:0864508 | channelopathy with epilepsy | GARD:20242 | MONDO:equivalentTo | Channelopathy with epilepsy | | | -| MONDO:0864509 | acquired peripheral neuropathy | GARD:20243 | MONDO:equivalentTo | Acquired peripheral neuropathy | | | -| MONDO:0864510 | interstitial lung disease | GARD:20244 | MONDO:equivalentTo | Interstitial lung disease | | | -| MONDO:0864511 | pneumoconiosis | GARD:20245 | MONDO:equivalentTo | Pneumoconiosis | | | -| MONDO:0864512 | idiopathic eosinophilic pneumonia | GARD:20246 | MONDO:equivalentTo | Idiopathic eosinophilic pneumonia | | | -| MONDO:0864513 | secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease | GARD:20247 | MONDO:equivalentTo | Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease | | | -| MONDO:0864514 | thoracic malformation | GARD:20248 | MONDO:equivalentTo | Thoracic malformation | | | -| MONDO:0864515 | respiratory malformation | GARD:20249 | MONDO:equivalentTo | Respiratory malformation | | | -| MONDO:0864516 | rare urogenital tumor | GARD:20250 | MONDO:equivalentTo | Rare urogenital tumor | | | -| MONDO:0864517 | non-syndromic urogenital tract malformation of female | GARD:20251 | MONDO:equivalentTo | Non-syndromic urogenital tract malformation of female | | | -| MONDO:0864518 | non-syndromic urogenital tract malformation of male | GARD:20252 | MONDO:equivalentTo | Non-syndromic urogenital tract malformation of male | | | -| MONDO:0864519 | non-syndromic urogenital tract malformation of male and female | GARD:20253 | MONDO:equivalentTo | Non-syndromic urogenital tract malformation of male and female | | | -| MONDO:0864520 | tumor of endocrine glands | GARD:20254 | MONDO:equivalentTo | Tumor of endocrine glands | | | -| MONDO:0864521 | rare systemic disease | GARD:20255 | MONDO:equivalentTo | Rare systemic disease | | | -| MONDO:0864522 | systemic autoimmune disease | GARD:20256 | MONDO:equivalentTo | Systemic autoimmune disease | | | -| MONDO:0864523 | rare rheumatologic disease | GARD:20257 | MONDO:equivalentTo | Rare rheumatologic disease | | | -| MONDO:0864524 | genetic urticaria | GARD:20258 | MONDO:equivalentTo | Genetic urticaria | | | -| MONDO:0864525 | polymalformative genetic syndrome with increased risk of developing cancer | GARD:20259 | MONDO:equivalentTo | Polymalformative genetic syndrome with increased risk of developing cancer | | | -| MONDO:0864526 | dyssegmental dysplasia, silverman-handmaker type | GARD:2026 | MONDO:equivalentTo | Dyssegmental dysplasia, Silverman-Handmaker type | | | -| MONDO:0864527 | genetic epidermal disorder | GARD:20260 | MONDO:equivalentTo | Genetic epidermal disorder | | | -| MONDO:0864528 | inherited ichthyosis | GARD:20261 | MONDO:equivalentTo | Inherited ichthyosis | | | -| MONDO:0864529 | genetic erythrokeratoderma | GARD:20262 | MONDO:equivalentTo | Genetic erythrokeratoderma | | | -| MONDO:0864530 | genetic acrokeratoderma | GARD:20263 | MONDO:equivalentTo | Genetic acrokeratoderma | | | -| MONDO:0864531 | genetic porokeratosis | GARD:20264 | MONDO:equivalentTo | Genetic porokeratosis | | | -| MONDO:0864532 | genetic epidermal appendage anomaly | GARD:20265 | MONDO:equivalentTo | Genetic epidermal appendage anomaly | | | -| MONDO:0864533 | genetic hair anomaly | GARD:20266 | MONDO:equivalentTo | Genetic hair anomaly | | | -| MONDO:0864534 | genetic nail anomaly | GARD:20267 | MONDO:equivalentTo | Genetic nail anomaly | | | -| MONDO:0864535 | genetic sebaceous gland anomaly | GARD:20268 | MONDO:equivalentTo | Genetic sebaceous gland anomaly | | | -| MONDO:0864536 | genetic pigmentation anomaly of the skin | GARD:20269 | MONDO:equivalentTo | Genetic pigmentation anomaly of the skin | | | -| MONDO:0864537 | early-onset generalized limb-onset dystonia | GARD:2027 | MONDO:equivalentTo | Early-onset generalized limb-onset dystonia | | | -| MONDO:0864538 | genetic hyperpigmentation of the skin | GARD:20270 | MONDO:equivalentTo | Genetic hyperpigmentation of the skin | | | -| MONDO:0864539 | genetic hypopigmentation of the skin | GARD:20271 | MONDO:equivalentTo | Genetic hypopigmentation of the skin | | | -| MONDO:0864540 | genetic dermis disorder | GARD:20272 | MONDO:equivalentTo | Genetic dermis disorder | | | -| MONDO:0864541 | genetic skin vascular disorder | GARD:20273 | MONDO:equivalentTo | Genetic skin vascular disorder | | | -| MONDO:0864542 | genetic mixed dermis disorder | GARD:20274 | MONDO:equivalentTo | Genetic mixed dermis disorder | | | -| MONDO:0864543 | genetic subcutaneous tissue disorder | GARD:20275 | MONDO:equivalentTo | Genetic subcutaneous tissue disorder | | | -| MONDO:0864544 | genetic skin tumor or hamartoma | GARD:20276 | MONDO:equivalentTo | Genetic skin tumor or hamartoma | | | -| MONDO:0864545 | genetic photodermatosis | GARD:20277 | MONDO:equivalentTo | Genetic photodermatosis | | | -| MONDO:0864546 | genetic immune deficiency with skin involvement | GARD:20278 | MONDO:equivalentTo | Genetic immune deficiency with skin involvement | | | -| MONDO:0864547 | genetic neuromuscular disease | GARD:20279 | MONDO:equivalentTo | Genetic neuromuscular disease | | | -| MONDO:0864548 | primary dystonia, dyt2 type | GARD:2028 | MONDO:equivalentTo | Primary dystonia, DYT2 type | | | -| MONDO:0864549 | genetic neurodegenerative disease | GARD:20280 | MONDO:equivalentTo | Genetic neurodegenerative disease | | | -| MONDO:0864550 | genetic central nervous system and retinal vascular disease | GARD:20281 | MONDO:equivalentTo | Genetic central nervous system and retinal vascular disease | | | -| MONDO:0864551 | genetic central nervous system malformation | GARD:20282 | MONDO:equivalentTo | Genetic central nervous system malformation | | | -| MONDO:0864552 | rare genetic headache | GARD:20283 | MONDO:equivalentTo | Rare genetic headache | | | -| MONDO:0864553 | rare genetic epilepsy | GARD:20284 | MONDO:equivalentTo | Rare genetic epilepsy | | | -| MONDO:0864554 | rare genetic medullar disease | GARD:20285 | MONDO:equivalentTo | Rare genetic medullar disease | | | -| MONDO:0864555 | rare hereditary ataxia | GARD:20286 | MONDO:equivalentTo | Rare hereditary ataxia | | | -| MONDO:0864556 | rare genetic movement disorder | GARD:20287 | MONDO:equivalentTo | Rare genetic movement disorder | | | -| MONDO:0864557 | rare genetic bone disease | GARD:20288 | MONDO:equivalentTo | Rare genetic bone disease | | | -| MONDO:0864558 | genetic bone tumor | GARD:20289 | MONDO:equivalentTo | Genetic bone tumor | | | -| MONDO:0864559 | rare genetic developmental defect during embryogenesis | GARD:20290 | MONDO:equivalentTo | Rare genetic developmental defect during embryogenesis | | | -| MONDO:0864560 | genetic multiple congenital anomalies/dysmorphic syndrome | GARD:20291 | MONDO:equivalentTo | Genetic multiple congenital anomalies/dysmorphic syndrome | | | -| MONDO:0864561 | genetic congenital limb malformation | GARD:20292 | MONDO:equivalentTo | Genetic congenital limb malformation | | | -| MONDO:0864562 | genetic renal or urinary tract malformation | GARD:20293 | MONDO:equivalentTo | Genetic renal or urinary tract malformation | | | -| MONDO:0864563 | genetic cranial malformation | GARD:20294 | MONDO:equivalentTo | Genetic cranial malformation | | | -| MONDO:0864564 | genetic digestive tract malformation | GARD:20295 | MONDO:equivalentTo | Genetic digestive tract malformation | | | -| MONDO:0864565 | genetic visceral malformation of the liver, biliary tract, pancreas or spleen | GARD:20296 | MONDO:equivalentTo | Genetic visceral malformation of the liver, biliary tract, pancreas or spleen | | | -| MONDO:0864566 | genetic respiratory or mediastinal malformation | GARD:20297 | MONDO:equivalentTo | Genetic respiratory or mediastinal malformation | | | -| MONDO:0864567 | genetic developmental defect of the eye | GARD:20298 | MONDO:equivalentTo | Genetic developmental defect of the eye | | | -| MONDO:0864568 | genetic malformation syndrome with short stature | GARD:20299 | MONDO:equivalentTo | Genetic malformation syndrome with short stature | | | -| MONDO:0864569 | genetic overgrowth/obesity syndrome | GARD:20300 | MONDO:equivalentTo | Genetic overgrowth/obesity syndrome | | | -| MONDO:0864570 | genetic branchial arch or oral-acral syndrome | GARD:20301 | MONDO:equivalentTo | Genetic branchial arch or oral-acral syndrome | | | -| MONDO:0864571 | genetic malformation syndrome with odontal and/or periodontal component | GARD:20302 | MONDO:equivalentTo | Genetic malformation syndrome with odontal and/or periodontal component | | | -| MONDO:0864572 | genetic head and neck malformation | GARD:20303 | MONDO:equivalentTo | Genetic head and neck malformation | | | -| MONDO:0864573 | genetic glomerular disease | GARD:20304 | MONDO:equivalentTo | Genetic glomerular disease | | | -| MONDO:0864574 | genetic thrombotic microangiopathy | GARD:20305 | MONDO:equivalentTo | Genetic thrombotic microangiopathy | | | -| MONDO:0864575 | genetic renal tubular disease | GARD:20306 | MONDO:equivalentTo | Genetic renal tubular disease | | | -| MONDO:0864576 | genetic renal tumor | GARD:20307 | MONDO:equivalentTo | Genetic renal tumor | | | -| MONDO:0864577 | genetic lens and zonula anomaly | GARD:20308 | MONDO:equivalentTo | Genetic lens and zonula anomaly | | | -| MONDO:0864578 | genetic neuro-ophthalmological disease | GARD:20309 | MONDO:equivalentTo | Genetic neuro-ophthalmological disease | | | -| MONDO:0864579 | qualitative or quantitative defects of dystrophin | GARD:2031 | MONDO:equivalentTo | Qualitative or quantitative defects of dystrophin | | | -| MONDO:0864580 | genetic eye tumor | GARD:20310 | MONDO:equivalentTo | Genetic eye tumor | | | -| MONDO:0864581 | genetic respiratory malformation | GARD:20311 | MONDO:equivalentTo | Genetic respiratory malformation | | | -| MONDO:0864582 | rare genetic diabetes mellitus | GARD:20312 | MONDO:equivalentTo | Rare genetic diabetes mellitus | | | -| MONDO:0864583 | rare genetic hypothalamic or pituitary disease | GARD:20313 | MONDO:equivalentTo | Rare genetic hypothalamic or pituitary disease | | | -| MONDO:0864584 | rare genetic thyroid disease | GARD:20314 | MONDO:equivalentTo | Rare genetic thyroid disease | | | -| MONDO:0864585 | rare genetic parathyroid disease and phosphocalcic metabolism disorder | GARD:20315 | MONDO:equivalentTo | Rare genetic parathyroid disease and phosphocalcic metabolism disorder | | | -| MONDO:0864586 | rare genetic adrenal disease | GARD:20316 | MONDO:equivalentTo | Rare genetic adrenal disease | | | -| MONDO:0864587 | genetic polyendocrinopathy | GARD:20317 | MONDO:equivalentTo | Genetic polyendocrinopathy | | | -| MONDO:0864588 | rare constitutional anemia | GARD:20318 | MONDO:equivalentTo | Rare constitutional anemia | | | -| MONDO:0864589 | rare genetic coagulation disorder | GARD:20319 | MONDO:equivalentTo | Rare genetic coagulation disorder | | | -| MONDO:0864590 | agammaglobulinemia | GARD:20320 | MONDO:equivalentTo | Agammaglobulinemia | | | -| MONDO:0864591 | functional neutrophil defect | GARD:20321 | MONDO:equivalentTo | Functional neutrophil defect | | | -| MONDO:0864592 | genetic susceptibility to infections due to particular pathogens | GARD:20322 | MONDO:equivalentTo | Genetic susceptibility to infections due to particular pathogens | | | -| MONDO:0864593 | rare genetic gynecological and obstetrical diseases | GARD:20323 | MONDO:equivalentTo | Rare genetic gynecological and obstetrical diseases | | | -| MONDO:0864594 | genetic gynecological tumor | GARD:20324 | MONDO:equivalentTo | Genetic gynecological tumor | | | -| MONDO:0864595 | rare genetic intellectual disability | GARD:20325 | MONDO:equivalentTo | Rare genetic intellectual disability | | | -| MONDO:0864596 | rare genetic syndromic intellectual disability | GARD:20326 | MONDO:equivalentTo | Rare genetic syndromic intellectual disability | | | -| MONDO:0864597 | rare genetic immune disease | GARD:20327 | MONDO:equivalentTo | Rare genetic immune disease | | | -| MONDO:0864598 | superficial fibromatosis | GARD:20328 | MONDO:equivalentTo | Superficial fibromatosis | | | -| MONDO:0864599 | calcifying aponeurotic fibroma | GARD:20329 | MONDO:equivalentTo | Calcifying aponeurotic fibroma | | | -| MONDO:0864600 | ear-patella-short stature syndrome | GARD:2033 | MONDO:equivalentTo | Ear-patella-short stature syndrome | | | -| MONDO:0864601 | congenital microgastria | GARD:20330 | MONDO:equivalentTo | Congenital microgastria | | | -| MONDO:0864602 | late-onset isolated acth deficiency | GARD:20331 | MONDO:equivalentTo | Late-onset isolated ACTH deficiency | | | -| MONDO:0864603 | tetragametic chimerism | GARD:20332 | MONDO:equivalentTo | Tetragametic chimerism | | | -| MONDO:0864604 | endophthalmitis | GARD:20333 | MONDO:equivalentTo | Endophthalmitis | | | -| MONDO:0864605 | isolated autosomal dominant hypomagnesemia, glaudemans type | GARD:20334 | MONDO:equivalentTo | Isolated autosomal dominant hypomagnesemia, Glaudemans type | | | -| MONDO:0864606 | congenital myopathy, paradas type | GARD:20335 | MONDO:equivalentTo | Congenital myopathy, Paradas type | | | -| MONDO:0864607 | atypical autism | GARD:20336 | MONDO:equivalentTo | Atypical autism | | | -| MONDO:0864608 | isolated cerebellar vermis hypoplasia | GARD:20337 | MONDO:equivalentTo | Isolated cerebellar vermis hypoplasia | | | -| MONDO:0864609 | non-syndromic cerebral malformation | GARD:20338 | MONDO:equivalentTo | Non-syndromic cerebral malformation | | | -| MONDO:0864610 | syndrome with corpus callosum agenesis/dysgenesis as a major feature | GARD:20339 | MONDO:equivalentTo | Syndrome with corpus callosum agenesis/dysgenesis as a major feature | | | -| MONDO:0864611 | paroxysmal dystonia | GARD:20340 | MONDO:equivalentTo | Paroxysmal dystonia | | | -| MONDO:0864612 | anomaly of puberty or/and menstrual cycle of genetic origin | GARD:20341 | MONDO:equivalentTo | Anomaly of puberty or/and menstrual cycle of genetic origin | | | -| MONDO:0864613 | syndromic microphthalmia-anophthalmia-coloboma | GARD:20342 | MONDO:equivalentTo | Syndromic microphthalmia-anophthalmia-coloboma | | | -| MONDO:0864614 | infantile krabbe disease | GARD:20343 | MONDO:equivalentTo | Infantile Krabbe disease | | | -| MONDO:0864615 | late-infantile/juvenile krabbe disease | GARD:20344 | MONDO:equivalentTo | Late-infantile/juvenile Krabbe disease | | | -| MONDO:0864616 | adult krabbe disease | GARD:20345 | MONDO:equivalentTo | Adult Krabbe disease | | | -| MONDO:0864617 | cystadenoma of childhood | GARD:20346 | MONDO:equivalentTo | Cystadenoma of childhood | | | -| MONDO:0864618 | malignant germ cell tumor of the vagina | GARD:20347 | MONDO:equivalentTo | Malignant germ cell tumor of the vagina | | | -| MONDO:0864619 | vulvovaginal rhabdomyosarcoma | GARD:20348 | MONDO:equivalentTo | Vulvovaginal rhabdomyosarcoma | | | -| MONDO:0864620 | malignant non-dysgerminomatous germ cell tumor of ovary | GARD:20349 | MONDO:equivalentTo | Malignant non-dysgerminomatous germ cell tumor of ovary | | | -| MONDO:0864621 | ebola hemorrhagic fever | GARD:2035 | MONDO:equivalentTo | Ebola hemorrhagic fever | | | -| MONDO:0864622 | symptomatic form of muscular dystrophy of duchenne and becker in female carriers | GARD:20350 | MONDO:equivalentTo | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | -| MONDO:0864623 | immune-mediated necrotizing myopathy | GARD:20351 | MONDO:equivalentTo | Immune-mediated necrotizing myopathy | | | -| MONDO:0864624 | overlap myositis | GARD:20352 | MONDO:equivalentTo | Overlap myositis | | | -| MONDO:0864625 | rippling muscle disease with myasthenia gravis | GARD:20353 | MONDO:equivalentTo | Rippling muscle disease with myasthenia gravis | | | -| MONDO:0864626 | neurolymphomatosis | GARD:20354 | MONDO:equivalentTo | Neurolymphomatosis | | | -| MONDO:0864627 | subacute inflammatory demyelinating polyneuropathy | GARD:20355 | MONDO:equivalentTo | Subacute inflammatory demyelinating polyneuropathy | | | -| MONDO:0864628 | isolated asymptomatic elevation of creatine phosphokinase | GARD:20356 | MONDO:equivalentTo | Isolated asymptomatic elevation of creatine phosphokinase | | | -| MONDO:0864629 | infectious disease with peripheral neuropathy | GARD:20357 | MONDO:equivalentTo | Infectious disease with peripheral neuropathy | | | -| MONDO:0864630 | genetic skeletal muscle disease | GARD:20358 | MONDO:equivalentTo | Genetic skeletal muscle disease | | | -| MONDO:0864631 | acquired skeletal muscle disease | GARD:20359 | MONDO:equivalentTo | Acquired skeletal muscle disease | | | -| MONDO:0864632 | progressive muscular dystrophy | GARD:20360 | MONDO:equivalentTo | Progressive muscular dystrophy | | | -| MONDO:0864633 | autosomal dominant distal myopathy | GARD:20361 | MONDO:equivalentTo | Autosomal dominant distal myopathy | | | -| MONDO:0864634 | autosomal recessive distal myopathy | GARD:20362 | MONDO:equivalentTo | Autosomal recessive distal myopathy | | | -| MONDO:0864635 | non-dystrophic myopathy | GARD:20363 | MONDO:equivalentTo | Non-dystrophic myopathy | | | -| MONDO:0864636 | inclusion myopathy | GARD:20364 | MONDO:equivalentTo | Inclusion myopathy | | | -| MONDO:0864637 | bulbospinal muscular atrophy | GARD:20365 | MONDO:equivalentTo | Bulbospinal muscular atrophy | | | -| MONDO:0864638 | bulbospinal muscular atrophy of childhood | GARD:20366 | MONDO:equivalentTo | Bulbospinal muscular atrophy of childhood | | | -| MONDO:0864639 | bulbospinal muscular atrophy of adult | GARD:20367 | MONDO:equivalentTo | Bulbospinal muscular atrophy of adult | | | -| MONDO:0864640 | generalized bulbospinal muscular atrophy | GARD:20368 | MONDO:equivalentTo | Generalized bulbospinal muscular atrophy | | | -| MONDO:0864641 | muscular lipidosis | GARD:20369 | MONDO:equivalentTo | Muscular lipidosis | | | -| MONDO:0864642 | muscular glycogenosis | GARD:20370 | MONDO:equivalentTo | Muscular glycogenosis | | | -| MONDO:0864643 | mitochondrial myopathy | GARD:20371 | MONDO:equivalentTo | Mitochondrial myopathy | | | -| MONDO:0864644 | myotonic syndrome | GARD:20372 | MONDO:equivalentTo | Myotonic syndrome | | | -| MONDO:0864645 | congenital myotonia | GARD:20373 | MONDO:equivalentTo | Congenital myotonia | | | -| MONDO:0864646 | periodic paralysis | GARD:20374 | MONDO:equivalentTo | Periodic paralysis | | | -| MONDO:0864647 | muscular tumor | GARD:20375 | MONDO:equivalentTo | Muscular tumor | | | -| MONDO:0864648 | infectious, fungal or parasitic myopathy | GARD:20376 | MONDO:equivalentTo | Infectious, fungal or parasitic myopathy | | | -| MONDO:0864649 | viral myositis | GARD:20377 | MONDO:equivalentTo | Viral myositis | | | -| MONDO:0864650 | bacterial myositis | GARD:20378 | MONDO:equivalentTo | Bacterial myositis | | | -| MONDO:0864651 | parasitic myositis | GARD:20379 | MONDO:equivalentTo | Parasitic myositis | | | -| MONDO:0864652 | fungal myositis | GARD:20380 | MONDO:equivalentTo | Fungal myositis | | | -| MONDO:0864653 | spinal muscular atrophy associated with central nervous system anomaly | GARD:20381 | MONDO:equivalentTo | Spinal muscular atrophy associated with central nervous system anomaly | | | -| MONDO:0864654 | rare hereditary metabolic disease with peripheral neuropathy | GARD:20382 | MONDO:equivalentTo | Rare hereditary metabolic disease with peripheral neuropathy | | | -| MONDO:0864655 | rare hereditary systemic disease with peripheral neuropathy | GARD:20383 | MONDO:equivalentTo | Rare hereditary systemic disease with peripheral neuropathy | | | -| MONDO:0864656 | rare hereditary neurologic disease with peripheral neuropathy | GARD:20384 | MONDO:equivalentTo | Rare hereditary neurologic disease with peripheral neuropathy | | | -| MONDO:0864657 | cerebellar ataxia with peripheral neuropathy | GARD:20385 | MONDO:equivalentTo | Cerebellar ataxia with peripheral neuropathy | | | -| MONDO:0864658 | acute and subacute inflammatory demyelinating polyneuropathy | GARD:20386 | MONDO:equivalentTo | Acute and subacute inflammatory demyelinating polyneuropathy | | | -| MONDO:0864659 | malignant lymphoma with peripheral neuropathy | GARD:20387 | MONDO:equivalentTo | Malignant lymphoma with peripheral neuropathy | | | -| MONDO:0864660 | qualitative or quantitative protein defects in neuromuscular diseases | GARD:20388 | MONDO:equivalentTo | Qualitative or quantitative protein defects in neuromuscular diseases | | | -| MONDO:0864661 | qualitative or quantitative defects of sarcoglycan | GARD:20389 | MONDO:equivalentTo | Qualitative or quantitative defects of sarcoglycan | | | -| MONDO:0864662 | qualitative or quantitative defects of alpha-sarcoglycan | GARD:20390 | MONDO:equivalentTo | Qualitative or quantitative defects of alpha-sarcoglycan | | | -| MONDO:0864663 | qualitative or quantitative defects of beta-sarcoglycan | GARD:20391 | MONDO:equivalentTo | Qualitative or quantitative defects of beta-sarcoglycan | | | -| MONDO:0864664 | qualitative or quantitative defects of gamma-sarcoglycan | GARD:20392 | MONDO:equivalentTo | Qualitative or quantitative defects of gamma-sarcoglycan | | | -| MONDO:0864665 | qualitative or quantitative defects of delta-sarcoglycan | GARD:20393 | MONDO:equivalentTo | Qualitative or quantitative defects of delta-sarcoglycan | | | -| MONDO:0864666 | qualitative or quantitative defects of caveolin-3 | GARD:20394 | MONDO:equivalentTo | Qualitative or quantitative defects of caveolin-3 | | | -| MONDO:0864667 | qualitative or quantitative defects of collagen 6 | GARD:20395 | MONDO:equivalentTo | Qualitative or quantitative defects of collagen 6 | | | -| MONDO:0864668 | laminin subunit alpha 2-related muscular dystrophy | GARD:20396 | MONDO:equivalentTo | Laminin subunit alpha 2-related muscular dystrophy | | | -| MONDO:0864669 | qualitative or quantitative defects of integrin alpha-7 | GARD:20397 | MONDO:equivalentTo | Qualitative or quantitative defects of integrin alpha-7 | | | -| MONDO:0864670 | qualitative or quantitative defects of perlecan | GARD:20398 | MONDO:equivalentTo | Qualitative or quantitative defects of perlecan | | | -| MONDO:0864671 | qualitative or quantitative defects of calpain | GARD:20399 | MONDO:equivalentTo | Qualitative or quantitative defects of calpain | | | -| MONDO:0864672 | qualitative or quantitative defects of trim32 | GARD:20400 | MONDO:equivalentTo | Qualitative or quantitative defects of TRIM32 | | | -| MONDO:0864673 | qualitative or quantitative defects of myotubularin | GARD:20401 | MONDO:equivalentTo | Qualitative or quantitative defects of myotubularin | | | -| MONDO:0864674 | qualitative or quantitative defects of protein involved in o-glycosylation of alpha-dystroglycan | GARD:20402 | MONDO:equivalentTo | Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan | | | -| MONDO:0864675 | qualitative or quantitative defects of fkrp | GARD:20403 | MONDO:equivalentTo | Qualitative or quantitative defects of FKRP | | | -| MONDO:0864676 | qualitative or quantitative defects of fukutin | GARD:20404 | MONDO:equivalentTo | Qualitative or quantitative defects of fukutin | | | -| MONDO:0864677 | autosomal dominant cerebellar ataxia type ii | GARD:20405 | MONDO:equivalentTo | Autosomal dominant cerebellar ataxia type II | | | -| MONDO:0864678 | herpetiform pemphigus | GARD:20406 | MONDO:equivalentTo | Herpetiform pemphigus | | | -| MONDO:0864679 | genetic hypoparathyroidism | GARD:20407 | MONDO:equivalentTo | Genetic hypoparathyroidism | | | -| MONDO:0864680 | genetic hyperparathyroidism | GARD:20408 | MONDO:equivalentTo | Genetic hyperparathyroidism | | | -| MONDO:0864681 | chronic acquired demyelinating polyneuropathy | GARD:20409 | MONDO:equivalentTo | Chronic acquired demyelinating polyneuropathy | | | -| MONDO:0864682 | chronic polyradiculoneuropathy | GARD:20410 | MONDO:equivalentTo | Chronic polyradiculoneuropathy | | | -| MONDO:0864683 | polyradiculoneuropathy associated with igg/iga/igm monoclonal gammopathy without known antibodies | GARD:20411 | MONDO:equivalentTo | Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies | | | -| MONDO:0864684 | acquired sensory ganglionopathy | GARD:20412 | MONDO:equivalentTo | Acquired sensory ganglionopathy | | | -| MONDO:0864685 | non-paraneoplastic sensory ganglionopathy | GARD:20413 | MONDO:equivalentTo | Non-paraneoplastic sensory ganglionopathy | | | -| MONDO:0864686 | paraneoplastic sensory ganglionopathy | GARD:20414 | MONDO:equivalentTo | Paraneoplastic sensory ganglionopathy | | | -| MONDO:0864687 | axonal polyneuropathy associated with igg/igm/iga monoclonal gammopathy | GARD:20415 | MONDO:equivalentTo | Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy | | | -| MONDO:0864688 | systemic inflammatory disease associated with an acquired peripheral neuropathy | GARD:20416 | MONDO:equivalentTo | Systemic inflammatory disease associated with an acquired peripheral neuropathy | | | -| MONDO:0864689 | peripheral neuropathy associated with monoclonal gammopathy | GARD:20417 | MONDO:equivalentTo | Peripheral neuropathy associated with monoclonal gammopathy | | | -| MONDO:0864690 | acquired amyloid peripheral neuropathy | GARD:20418 | MONDO:equivalentTo | Acquired amyloid peripheral neuropathy | | | -| MONDO:0864691 | hematological disease associated with an acquired peripheral neuropathy | GARD:20419 | MONDO:equivalentTo | Hematological disease associated with an acquired peripheral neuropathy | | | -| MONDO:0864692 | solid tumor associated with an acquired peripheral neuropathy | GARD:20420 | MONDO:equivalentTo | Solid tumor associated with an acquired peripheral neuropathy | | | -| MONDO:0864693 | qualitative or quantitative defects of protein o-mannose beta1,2n-acetylglucosaminyltransferase | GARD:20421 | MONDO:equivalentTo | Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase | | | -| MONDO:0864694 | qualitative or quantitative defects of protein glycosyltransferase-like | GARD:20422 | MONDO:equivalentTo | Qualitative or quantitative defects of protein glycosyltransferase-like | | | -| MONDO:0864695 | qualitative or quantitative defects of protein o-mannosyltransferase 1 | GARD:20423 | MONDO:equivalentTo | Qualitative or quantitative defects of protein O-mannosyltransferase 1 | | | -| MONDO:0864696 | qualitative or quantitative defects of protein o-mannosyltransferase 2 | GARD:20424 | MONDO:equivalentTo | Qualitative or quantitative defects of protein O-mannosyltransferase 2 | | | -| MONDO:0864697 | qualitative or quantitative defects of myofibrillar proteins | GARD:20425 | MONDO:equivalentTo | Qualitative or quantitative defects of myofibrillar proteins | | | -| MONDO:0864698 | qualitative or quantitative defects of desmin | GARD:20426 | MONDO:equivalentTo | Qualitative or quantitative defects of desmin | | | -| MONDO:0864699 | qualitative or quantitative defects of alphab-cristallin | GARD:20427 | MONDO:equivalentTo | Qualitative or quantitative defects of alphaB-cristallin | | | -| MONDO:0864700 | qualitative or quantitative defects of filamin c | GARD:20428 | MONDO:equivalentTo | Qualitative or quantitative defects of filamin C | | | -| MONDO:0864701 | qualitative or quantitative defects of protein zasp | GARD:20429 | MONDO:equivalentTo | Qualitative or quantitative defects of protein ZASP | | | -| MONDO:0864702 | qualitative or quantitative defects of titin | GARD:20430 | MONDO:equivalentTo | Qualitative or quantitative defects of titin | | | -| MONDO:0864703 | qualitative or quantitative defects of telethonin | GARD:20431 | MONDO:equivalentTo | Qualitative or quantitative defects of telethonin | | | -| MONDO:0864704 | qualitative or quantitative defects of alpha-actin | GARD:20432 | MONDO:equivalentTo | Qualitative or quantitative defects of alpha-actin | | | -| MONDO:0864705 | qualitative or quantitative defects of nebulin | GARD:20433 | MONDO:equivalentTo | Qualitative or quantitative defects of nebulin | | | -| MONDO:0864706 | qualitative or quantitative defects of beta-myosin heavy chain (myh7) | GARD:20434 | MONDO:equivalentTo | Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) | | | -| MONDO:0864707 | qualitative or quantitative defects of emerin | GARD:20435 | MONDO:equivalentTo | Qualitative or quantitative defects of emerin | | | -| MONDO:0864708 | qualitative or quantitative defects of selenoprotein n1 | GARD:20436 | MONDO:equivalentTo | Qualitative or quantitative defects of selenoprotein N1 | | | -| MONDO:0864709 | qualitative or quantitative defects of plectin | GARD:20437 | MONDO:equivalentTo | Qualitative or quantitative defects of plectin | | | -| MONDO:0864710 | qualitative or quantitative defects of protein serca1 | GARD:20438 | MONDO:equivalentTo | Qualitative or quantitative defects of protein SERCA1 | | | -| MONDO:0864711 | qualitative or quantitative defects of glucosamine (udp-n-acetyl)-2-epimerase/n-acetylmannosamine kinase - | GARD:20439 | MONDO:equivalentTo | Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - | | | -| MONDO:0864712 | leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome | GARD:2044 | MONDO:equivalentTo | Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome | | | -| MONDO:0864713 | myotilinopathy | GARD:20440 | MONDO:equivalentTo | Myotilinopathy | | | -| MONDO:0864714 | hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | GARD:20441 | MONDO:equivalentTo | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | | | -| MONDO:0864715 | idiopathic uveal effusion syndrome | GARD:20442 | MONDO:equivalentTo | Idiopathic uveal effusion syndrome | | | -| MONDO:0864716 | phacoanaphylactic uveitis | GARD:20443 | MONDO:equivalentTo | Phacoanaphylactic uveitis | | | -| MONDO:0864717 | solitary rectal ulcer syndrome | GARD:20444 | MONDO:equivalentTo | Solitary rectal ulcer syndrome | | | -| MONDO:0864718 | benign nocturnal alternating hemiplegia of childhood | GARD:20445 | MONDO:equivalentTo | Benign nocturnal alternating hemiplegia of childhood | | | -| MONDO:0864719 | alternating hemiplegia | GARD:20446 | MONDO:equivalentTo | Alternating hemiplegia | | | -| MONDO:0864720 | non-papillary transitional cell carcinoma of the bladder | GARD:20447 | MONDO:equivalentTo | Non-papillary transitional cell carcinoma of the bladder | | | -| MONDO:0864721 | leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome | GARD:20448 | MONDO:equivalentTo | Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome | | | -| MONDO:0864722 | pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome | GARD:20449 | MONDO:equivalentTo | Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome | | | -| MONDO:0864723 | ectodermal dysplasia-blindness syndrome | GARD:2045 | MONDO:equivalentTo | Ectodermal dysplasia-blindness syndrome | | | -| MONDO:0864724 | congenital temporomandibular joint ankylosis | GARD:20450 | MONDO:equivalentTo | Congenital temporomandibular joint ankylosis | | | -| MONDO:0864725 | temporomandibular joint anomaly | GARD:20451 | MONDO:equivalentTo | Temporomandibular joint anomaly | | | -| MONDO:0864726 | spindle cell hemangioma | GARD:20452 | MONDO:equivalentTo | Spindle cell hemangioma | | | -| MONDO:0864727 | infantile hemangioma of rare localization | GARD:20453 | MONDO:equivalentTo | Infantile hemangioma of rare localization | | | -| MONDO:0864728 | autosomal dominant proximal spinal muscular atrophy | GARD:20454 | MONDO:equivalentTo | Autosomal dominant proximal spinal muscular atrophy | | | -| MONDO:0864729 | specific learning disability | GARD:20455 | MONDO:equivalentTo | Specific learning disability | | | -| MONDO:0864730 | specific language disorder | GARD:20456 | MONDO:equivalentTo | Specific language disorder | | | -| MONDO:0864731 | hereditary episodic ataxia | GARD:20457 | MONDO:equivalentTo | Hereditary episodic ataxia | | | -| MONDO:0864732 | rare vascular tumor | GARD:20458 | MONDO:equivalentTo | Rare vascular tumor | | | -| MONDO:0864733 | genetic vascular anomaly | GARD:20459 | MONDO:equivalentTo | Genetic vascular anomaly | | | -| MONDO:0864734 | simple vascular malformation | GARD:20460 | MONDO:equivalentTo | Simple vascular malformation | | | -| MONDO:0864735 | rare capillary malformation | GARD:20461 | MONDO:equivalentTo | Rare capillary malformation | | | -| MONDO:0864736 | rare venous malformation | GARD:20462 | MONDO:equivalentTo | Rare venous malformation | | | -| MONDO:0864737 | rare lymphatic system anomaly | GARD:20463 | MONDO:equivalentTo | Rare lymphatic system anomaly | | | -| MONDO:0864738 | rare arteriovenous malformation | GARD:20464 | MONDO:equivalentTo | Rare arteriovenous malformation | | | -| MONDO:0864739 | complex vascular malformation with associated anomalies | GARD:20465 | MONDO:equivalentTo | Complex vascular malformation with associated anomalies | | | -| MONDO:0864740 | adenocarcinoma of ovary | GARD:20466 | MONDO:equivalentTo | Adenocarcinoma of ovary | | | -| MONDO:0864741 | familial ovarian cancer | GARD:20467 | MONDO:equivalentTo | Familial ovarian cancer | | | -| MONDO:0864742 | hereditary site-specific ovarian cancer syndrome | GARD:20468 | MONDO:equivalentTo | Hereditary site-specific ovarian cancer syndrome | | | -| MONDO:0864743 | rare uterine cancer | GARD:20469 | MONDO:equivalentTo | Rare uterine cancer | | | -| MONDO:0864744 | rare cancer of corpus uteri | GARD:20470 | MONDO:equivalentTo | Rare cancer of corpus uteri | | | -| MONDO:0864745 | rare variants of adenocarcinoma of the corpus uteri | GARD:20471 | MONDO:equivalentTo | Rare variants of adenocarcinoma of the corpus uteri | | | -| MONDO:0864746 | malignant mixed epithelial and mesenchymal tumor of corpus uteri | GARD:20472 | MONDO:equivalentTo | Malignant mixed epithelial and mesenchymal tumor of corpus uteri | | | -| MONDO:0864747 | adenosarcoma of the corpus uteri | GARD:20473 | MONDO:equivalentTo | Adenosarcoma of the corpus uteri | | | -| MONDO:0864748 | carcinofibroma of the corpus uteri | GARD:20474 | MONDO:equivalentTo | Carcinofibroma of the corpus uteri | | | -| MONDO:0864749 | rhabdomyosarcoma of the corpus uteri | GARD:20475 | MONDO:equivalentTo | Rhabdomyosarcoma of the corpus uteri | | | -| MONDO:0864750 | sarcoma of the corpus uteri | GARD:20476 | MONDO:equivalentTo | Sarcoma of the corpus uteri | | | -| MONDO:0864751 | leiomyosarcoma of the corpus uteri | GARD:20477 | MONDO:equivalentTo | Leiomyosarcoma of the corpus uteri | | | -| MONDO:0864752 | primitive neuroectodermal tumor of the corpus uteri | GARD:20478 | MONDO:equivalentTo | Primitive neuroectodermal tumor of the corpus uteri | | | -| MONDO:0864753 | squamous cell carcinoma of the corpus uteri | GARD:20479 | MONDO:equivalentTo | Squamous cell carcinoma of the corpus uteri | | | -| MONDO:0864754 | autosomal dominant hypohidrotic ectodermal dysplasia | GARD:2048 | MONDO:equivalentTo | Autosomal dominant hypohidrotic ectodermal dysplasia | | | -| MONDO:0864755 | undifferentiated carcinoma of the corpus uteri | GARD:20480 | MONDO:equivalentTo | Undifferentiated carcinoma of the corpus uteri | | | -| MONDO:0864756 | serous carcinoma of the corpus uteri | GARD:20481 | MONDO:equivalentTo | Serous carcinoma of the corpus uteri | | | -| MONDO:0864757 | high-grade neuroendocrine carcinoma of the corpus uteri | GARD:20482 | MONDO:equivalentTo | High-grade neuroendocrine carcinoma of the corpus uteri | | | -| MONDO:0864758 | low-grade neuroendocrine tumor of the corpus uteri | GARD:20483 | MONDO:equivalentTo | Low-grade neuroendocrine tumor of the corpus uteri | | | -| MONDO:0864759 | transitional cell carcinoma of the corpus uteri | GARD:20484 | MONDO:equivalentTo | Transitional cell carcinoma of the corpus uteri | | | -| MONDO:0864760 | malignant germ cell tumor of the corpus uteri | GARD:20485 | MONDO:equivalentTo | Malignant germ cell tumor of the corpus uteri | | | -| MONDO:0864761 | rare cancer of cervix uteri | GARD:20486 | MONDO:equivalentTo | Rare cancer of cervix uteri | | | -| MONDO:0864762 | squamous cell carcinoma of the cervix uteri | GARD:20487 | MONDO:equivalentTo | Squamous cell carcinoma of the cervix uteri | | | -| MONDO:0864763 | adenocarcinoma of the cervix uteri | GARD:20488 | MONDO:equivalentTo | Adenocarcinoma of the cervix uteri | | | -| MONDO:0864764 | high-grade neuroendocrine carcinoma of the cervix uteri | GARD:20489 | MONDO:equivalentTo | High-grade neuroendocrine carcinoma of the cervix uteri | | | -| MONDO:0864765 | hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome | GARD:2049 | MONDO:equivalentTo | Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome | | | -| MONDO:0864766 | malignant mixed epithelial and mesenchymal tumor of cervix uteri | GARD:20490 | MONDO:equivalentTo | Malignant mixed epithelial and mesenchymal tumor of cervix uteri | | | -| MONDO:0864767 | carcinosarcoma of the cervix uteri | GARD:20491 | MONDO:equivalentTo | Carcinosarcoma of the cervix uteri | | | -| MONDO:0864768 | adenosarcoma of the cervix uteri | GARD:20492 | MONDO:equivalentTo | Adenosarcoma of the cervix uteri | | | -| MONDO:0864769 | sarcoma of cervix uteri | GARD:20493 | MONDO:equivalentTo | Sarcoma of cervix uteri | | | -| MONDO:0864770 | rhabdomyosarcoma of the cervix uteri | GARD:20494 | MONDO:equivalentTo | Rhabdomyosarcoma of the cervix uteri | | | -| MONDO:0864771 | leiomyosarcoma of the cervix uteri | GARD:20495 | MONDO:equivalentTo | Leiomyosarcoma of the cervix uteri | | | -| MONDO:0864772 | primitive neuroectodermal tumor of the cervix uteri | GARD:20496 | MONDO:equivalentTo | Primitive neuroectodermal tumor of the cervix uteri | | | -| MONDO:0864773 | papillary carcinoma of the cervix uteri | GARD:20497 | MONDO:equivalentTo | Papillary carcinoma of the cervix uteri | | | -| MONDO:0864774 | adenoid cystic carcinoma of the cervix uteri | GARD:20498 | MONDO:equivalentTo | Adenoid cystic carcinoma of the cervix uteri | | | -| MONDO:0864775 | adenoid basal carcinoma of the cervix uteri | GARD:20499 | MONDO:equivalentTo | Adenoid basal carcinoma of the cervix uteri | | | -| MONDO:0864776 | glassy cell carcinoma of the cervix uteri | GARD:20500 | MONDO:equivalentTo | Glassy cell carcinoma of the cervix uteri | | | -| MONDO:0864777 | malignant germ cell tumor of the cervix uteri | GARD:20501 | MONDO:equivalentTo | Malignant germ cell tumor of the cervix uteri | | | -| MONDO:0864778 | isolated congenitally uncorrected transposition of the great arteries | GARD:20502 | MONDO:equivalentTo | Isolated congenitally uncorrected transposition of the great arteries | | | -| MONDO:0864779 | congenitally uncorrected transposition of the great arteries with cardiac malformation | GARD:20503 | MONDO:equivalentTo | Congenitally uncorrected transposition of the great arteries with cardiac malformation | | | -| MONDO:0864780 | niemann-pick disease type c, severe perinatal form | GARD:20504 | MONDO:equivalentTo | Niemann-Pick disease type C, severe perinatal form | | | -| MONDO:0864781 | niemann-pick disease type c, severe early infantile neurologic onset | GARD:20505 | MONDO:equivalentTo | Niemann-Pick disease type C, severe early infantile neurologic onset | | | -| MONDO:0864782 | niemann-pick disease type c, late infantile neurologic onset | GARD:20506 | MONDO:equivalentTo | Niemann-Pick disease type C, late infantile neurologic onset | | | -| MONDO:0864783 | niemann-pick disease type c, juvenile neurologic onset | GARD:20507 | MONDO:equivalentTo | Niemann-Pick disease type C, juvenile neurologic onset | | | -| MONDO:0864784 | niemann-pick disease type c, adult neurologic onset | GARD:20508 | MONDO:equivalentTo | Niemann-Pick disease type C, adult neurologic onset | | | -| MONDO:0864785 | 5-fluorouracil poisoning | GARD:20509 | MONDO:equivalentTo | 5-fluorouracil poisoning | | | -| MONDO:0864786 | pouchitis | GARD:20510 | MONDO:equivalentTo | Pouchitis | | | -| MONDO:0864787 | rare carcinoma of pancreas | GARD:20511 | MONDO:equivalentTo | Rare carcinoma of pancreas | | | -| MONDO:0864788 | pulmonary fungal infections in patients deemed at risk | GARD:20512 | MONDO:equivalentTo | Pulmonary fungal infections in patients deemed at risk | | | -| MONDO:0864789 | nmda receptor encephalitis | GARD:20513 | MONDO:equivalentTo | NMDA receptor encephalitis | | | -| MONDO:0864790 | congenital insensitivity to pain-hyperhidrosis-absence of c-fiber innervation | GARD:20514 | MONDO:equivalentTo | Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation | | | -| MONDO:0864791 | rare hereditary thrombophilia | GARD:20515 | MONDO:equivalentTo | Rare hereditary thrombophilia | | | -| MONDO:0864792 | pulmonary interstitial glycogenosis | GARD:20516 | MONDO:equivalentTo | Pulmonary interstitial glycogenosis | | | -| MONDO:0864793 | neuroendocrine cell hyperplasia of infancy | GARD:20517 | MONDO:equivalentTo | Neuroendocrine cell hyperplasia of infancy | | | -| MONDO:0864794 | rare hypertrophic cardiomyopathy | GARD:20518 | MONDO:equivalentTo | Rare hypertrophic cardiomyopathy | | | -| MONDO:0864795 | glycogen storage disease with hypertrophic cardiomyopathy | GARD:20519 | MONDO:equivalentTo | Glycogen storage disease with hypertrophic cardiomyopathy | | | -| MONDO:0864796 | lysosomal disease with hypertrophic cardiomyopathy | GARD:20520 | MONDO:equivalentTo | Lysosomal disease with hypertrophic cardiomyopathy | | | -| MONDO:0864797 | mitochondrial disease with hypertrophic cardiomyopathy | GARD:20521 | MONDO:equivalentTo | Mitochondrial disease with hypertrophic cardiomyopathy | | | -| MONDO:0864798 | fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy | GARD:20522 | MONDO:equivalentTo | Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy | | | -| MONDO:0864799 | syndrome associated with hypertrophic cardiomyopathy | GARD:20523 | MONDO:equivalentTo | Syndrome associated with hypertrophic cardiomyopathy | | | -| MONDO:0864800 | non-familial hypertrophic cardiomyopathy | GARD:20524 | MONDO:equivalentTo | Non-familial hypertrophic cardiomyopathy | | | -| MONDO:0864801 | familial dilated cardiomyopathy | GARD:20525 | MONDO:equivalentTo | Familial dilated cardiomyopathy | | | -| MONDO:0864802 | neuromuscular disease with dilated cardiomyopathy | GARD:20526 | MONDO:equivalentTo | Neuromuscular disease with dilated cardiomyopathy | | | -| MONDO:0864803 | mitochondrial disease with dilated cardiomyopathy | GARD:20527 | MONDO:equivalentTo | Mitochondrial disease with dilated cardiomyopathy | | | -| MONDO:0864804 | fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy | GARD:20528 | MONDO:equivalentTo | Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy | | | -| MONDO:0864805 | syndrome associated with dilated cardiomyopathy | GARD:20529 | MONDO:equivalentTo | Syndrome associated with dilated cardiomyopathy | | | -| MONDO:0864806 | non-familial dilated cardiomyopathy | GARD:20530 | MONDO:equivalentTo | Non-familial dilated cardiomyopathy | | | -| MONDO:0864807 | restrictive cardiomyopathy | GARD:20531 | MONDO:equivalentTo | Restrictive cardiomyopathy | | | -| MONDO:0864808 | familial restrictive cardiomyopathy | GARD:20532 | MONDO:equivalentTo | Familial restrictive cardiomyopathy | | | -| MONDO:0864809 | lysosomal disease with restrictive cardiomyopathy | GARD:20533 | MONDO:equivalentTo | Lysosomal disease with restrictive cardiomyopathy | | | -| MONDO:0864810 | unclassified cardiomyopathy | GARD:20534 | MONDO:equivalentTo | Unclassified cardiomyopathy | | | -| MONDO:0864811 | non-familial restrictive cardiomyopathy | GARD:20535 | MONDO:equivalentTo | Non-familial restrictive cardiomyopathy | | | -| MONDO:0864812 | rare cardiac rhythm disease | GARD:20536 | MONDO:equivalentTo | Rare cardiac rhythm disease | | | -| MONDO:0864813 | non-genetic cardiac rhythm disease | GARD:20537 | MONDO:equivalentTo | Non-genetic cardiac rhythm disease | | | -| MONDO:0864814 | macrothrombocytopenia with mitral valve insufficiency | GARD:20538 | MONDO:equivalentTo | Macrothrombocytopenia with mitral valve insufficiency | | | -| MONDO:0864815 | isolated hereditary giant platelet disorder | GARD:20539 | MONDO:equivalentTo | Isolated hereditary giant platelet disorder | | | -| MONDO:0864816 | rare hereditary hemochromatosis | GARD:20540 | MONDO:equivalentTo | Rare hereditary hemochromatosis | | | -| MONDO:0864817 | combined hyperactive dysfunction syndrome of the cranial nerves | GARD:20541 | MONDO:equivalentTo | Combined hyperactive dysfunction syndrome of the cranial nerves | | | -| MONDO:0864818 | cranial neuralgia | GARD:20542 | MONDO:equivalentTo | Cranial neuralgia | | | -| MONDO:0864819 | acquired peripheral movement disorder | GARD:20543 | MONDO:equivalentTo | Acquired peripheral movement disorder | | | -| MONDO:0864820 | confetti-like macular atrophy | GARD:20544 | MONDO:equivalentTo | Confetti-like macular atrophy | | | -| MONDO:0864821 | hereditary poikiloderma | GARD:20545 | MONDO:equivalentTo | Hereditary poikiloderma | | | -| MONDO:0864822 | mitochondrial oxidative phosphorylation disorder | GARD:20546 | MONDO:equivalentTo | Mitochondrial oxidative phosphorylation disorder | | | -| MONDO:0864823 | bone sarcoma | GARD:20547 | MONDO:equivalentTo | Bone sarcoma | | | -| MONDO:0864824 | lymphoma | GARD:20548 | MONDO:equivalentTo | Lymphoma | | | -| MONDO:0864825 | sporadic infantile bilateral striatal necrosis | GARD:20549 | MONDO:equivalentTo | Sporadic infantile bilateral striatal necrosis | | | -| MONDO:0864826 | ectodermal dysplasia, trichoodontoonychial type | GARD:2055 | MONDO:equivalentTo | Ectodermal dysplasia, trichoodontoonychial type | | | -| MONDO:0864827 | lysosomal disease with epilepsy | GARD:20550 | MONDO:equivalentTo | Lysosomal disease with epilepsy | | | -| MONDO:0864828 | peroxisomal disease with epilepsy | GARD:20551 | MONDO:equivalentTo | Peroxisomal disease with epilepsy | | | -| MONDO:0864829 | amino acid or protein metabolism disease with epilepsy | GARD:20552 | MONDO:equivalentTo | Amino acid or protein metabolism disease with epilepsy | | | -| MONDO:0864830 | metal transport or utilization disorder with epilepsy | GARD:20553 | MONDO:equivalentTo | Metal transport or utilization disorder with epilepsy | | | -| MONDO:0864831 | energy metabolism disorder with epilepsy | GARD:20554 | MONDO:equivalentTo | Energy metabolism disorder with epilepsy | | | -| MONDO:0864832 | mitochondrial disease with epilepsy | GARD:20555 | MONDO:equivalentTo | Mitochondrial disease with epilepsy | | | -| MONDO:0864833 | mitochondrial disease with peripheral neuropathy | GARD:20556 | MONDO:equivalentTo | Mitochondrial disease with peripheral neuropathy | | | -| MONDO:0864834 | metabolic neurotransmission anomaly with epilepsy | GARD:20557 | MONDO:equivalentTo | Metabolic neurotransmission anomaly with epilepsy | | | -| MONDO:0864835 | sterol metabolism disorder with epilepsy | GARD:20558 | MONDO:equivalentTo | Sterol metabolism disorder with epilepsy | | | -| MONDO:0864836 | other metabolic disease with epilepsy | GARD:20559 | MONDO:equivalentTo | Other metabolic disease with epilepsy | | | -| MONDO:0864837 | hidrotic ectodermal dysplasia | GARD:2056 | MONDO:equivalentTo | Hidrotic ectodermal dysplasia | | | -| MONDO:0864838 | permanent congenital hypothyroidism | GARD:20560 | MONDO:equivalentTo | Permanent congenital hypothyroidism | | | -| MONDO:0864839 | primary congenital hypothyroidism | GARD:20561 | MONDO:equivalentTo | Primary congenital hypothyroidism | | | -| MONDO:0864840 | hypothyroidism due to deficient transcription factors involved in pituitary development or function | GARD:20562 | MONDO:equivalentTo | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | -| MONDO:0864841 | congenital hypothyroidism due to maternal intake of antithyroid drugs | GARD:20563 | MONDO:equivalentTo | Congenital hypothyroidism due to maternal intake of antithyroid drugs | | | -| MONDO:0864842 | genetic transient congenital hypothyroidism | GARD:20564 | MONDO:equivalentTo | Genetic transient congenital hypothyroidism | | | -| MONDO:0864843 | multiple system atrophy, cerebellar type | GARD:20565 | MONDO:equivalentTo | Multiple system atrophy, cerebellar type | | | -| MONDO:0864844 | toxic oil syndrome | GARD:20566 | MONDO:equivalentTo | Toxic oil syndrome | | | -| MONDO:0864845 | autoimmune polyendocrinopathy type 4 | GARD:20567 | MONDO:equivalentTo | Autoimmune polyendocrinopathy type 4 | | | -| MONDO:0864846 | anal fistula | GARD:20568 | MONDO:equivalentTo | Anal fistula | | | -| MONDO:0864847 | hughes-stovin syndrome | GARD:20569 | MONDO:equivalentTo | Hughes-Stovin syndrome | | | -| MONDO:0864848 | autosomal recessive hypohidrotic ectodermal dysplasia | GARD:2057 | MONDO:equivalentTo | Autosomal recessive hypohidrotic ectodermal dysplasia | | | -| MONDO:0864849 | fusariosis | GARD:20570 | MONDO:equivalentTo | Fusariosis | | | -| MONDO:0864850 | multiple sclerosis variant | GARD:20571 | MONDO:equivalentTo | Multiple sclerosis variant | | | -| MONDO:0864851 | marburg acute multiple sclerosis | GARD:20572 | MONDO:equivalentTo | Marburg acute multiple sclerosis | | | -| MONDO:0864852 | heart-hand syndrome | GARD:20573 | MONDO:equivalentTo | Heart-hand syndrome | | | -| MONDO:0864853 | genetic dermis elastic tissue disorder | GARD:20574 | MONDO:equivalentTo | Genetic dermis elastic tissue disorder | | | -| MONDO:0864854 | acquired dermis elastic tissue disorder | GARD:20575 | MONDO:equivalentTo | Acquired dermis elastic tissue disorder | | | -| MONDO:0864855 | acquired dermis elastic tissue disorder with decreased elastic tissue | GARD:20576 | MONDO:equivalentTo | Acquired dermis elastic tissue disorder with decreased elastic tissue | | | -| MONDO:0864856 | acquired dermis elastic tissue disorder with increased elastic tissue | GARD:20577 | MONDO:equivalentTo | Acquired dermis elastic tissue disorder with increased elastic tissue | | | -| MONDO:0864857 | late-onset focal dermal elastosis | GARD:20578 | MONDO:equivalentTo | Late-onset focal dermal elastosis | | | -| MONDO:0864858 | linear focal elastosis | GARD:20579 | MONDO:equivalentTo | Linear focal elastosis | | | -| MONDO:0864859 | elastofibroma dorsi | GARD:20580 | MONDO:equivalentTo | Elastofibroma dorsi | | | -| MONDO:0864860 | acquired pseudoxanthoma elasticum | GARD:20581 | MONDO:equivalentTo | Acquired pseudoxanthoma elasticum | | | -| MONDO:0864861 | elastoma | GARD:20582 | MONDO:equivalentTo | Elastoma | | | -| MONDO:0864862 | papular elastorrhexis | GARD:20583 | MONDO:equivalentTo | Papular elastorrhexis | | | -| MONDO:0864863 | primary anetoderma | GARD:20584 | MONDO:equivalentTo | Primary anetoderma | | | -| MONDO:0864864 | familial anetoderma | GARD:20585 | MONDO:equivalentTo | Familial anetoderma | | | -| MONDO:0864865 | acquired cutis laxa | GARD:20586 | MONDO:equivalentTo | Acquired cutis laxa | | | -| MONDO:0864866 | white fibrous papulosis of the neck | GARD:20587 | MONDO:equivalentTo | White fibrous papulosis of the neck | | | -| MONDO:0864867 | pseudoxanthoma elasticum-like papillary dermal elastolysis | GARD:20588 | MONDO:equivalentTo | Pseudoxanthoma elasticum-like papillary dermal elastolysis | | | -| MONDO:0864868 | mid-dermal elastolysis | GARD:20589 | MONDO:equivalentTo | Mid-dermal elastolysis | | | -| MONDO:0864869 | autoimmune hemolytic anemia, cold type | GARD:20590 | MONDO:equivalentTo | Autoimmune hemolytic anemia, cold type | | | -| MONDO:0864870 | foodborne botulism | GARD:20591 | MONDO:equivalentTo | Foodborne botulism | | | -| MONDO:0864871 | virus-associated trichodysplasia spinulosa | GARD:20592 | MONDO:equivalentTo | Virus-associated trichodysplasia spinulosa | | | -| MONDO:0864872 | ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome | GARD:20593 | MONDO:equivalentTo | Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome | | | -| MONDO:0864873 | polyvalvular heart disease syndrome | GARD:20594 | MONDO:equivalentTo | Polyvalvular heart disease syndrome | | | -| MONDO:0864874 | 5q35 microduplication syndrome | GARD:20595 | MONDO:equivalentTo | 5q35 microduplication syndrome | | | -| MONDO:0864875 | syndromic agammaglobulinemia | GARD:20596 | MONDO:equivalentTo | Syndromic agammaglobulinemia | | | -| MONDO:0864876 | toxin-mediated infectious botulism | GARD:20597 | MONDO:equivalentTo | Toxin-mediated infectious botulism | | | -| MONDO:0864877 | high-grade dysplasia in patients with barrett esophagus | GARD:20598 | MONDO:equivalentTo | High-grade dysplasia in patients with Barrett esophagus | | | -| MONDO:0864878 | drug-induced lupus erythematosus | GARD:20599 | MONDO:equivalentTo | Drug-induced lupus erythematosus | | | -| MONDO:0864879 | nephronophthisis | GARD:206 | MONDO:equivalentTo | Nephronophthisis | | | -| MONDO:0864880 | beckwith-wiedemann syndrome due to imprinting defect of 11p15 | GARD:20600 | MONDO:equivalentTo | Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | | | -| MONDO:0864881 | beckwith-wiedemann syndrome due to 11p15 microdeletion | GARD:20601 | MONDO:equivalentTo | Beckwith-Wiedemann syndrome due to 11p15 microdeletion | | | -| MONDO:0864882 | beckwith-wiedemann syndrome due to 11p15 translocation/inversion | GARD:20602 | MONDO:equivalentTo | Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion | | | -| MONDO:0864883 | silver-russell syndrome due to 7p11.2p13 microduplication | GARD:20603 | MONDO:equivalentTo | Silver-Russell syndrome due to 7p11.2p13 microduplication | | | -| MONDO:0864884 | silver-russell syndrome due to an imprinting defect of 11p15 | GARD:20604 | MONDO:equivalentTo | Silver-Russell syndrome due to an imprinting defect of 11p15 | | | -| MONDO:0864885 | silver-russell syndrome due to 11p15 microduplication | GARD:20605 | MONDO:equivalentTo | Silver-Russell syndrome due to 11p15 microduplication | | | -| MONDO:0864886 | silver-russell syndrome due to maternal uniparental disomy of chromosome 11 | GARD:20606 | MONDO:equivalentTo | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 | | | -| MONDO:0864887 | beta-thalassemia associated with another hemoglobin anomaly | GARD:20607 | MONDO:equivalentTo | Beta-thalassemia associated with another hemoglobin anomaly | | | -| MONDO:0864888 | hemoglobin c-beta-thalassemia syndrome | GARD:20608 | MONDO:equivalentTo | Hemoglobin C-beta-thalassemia syndrome | | | -| MONDO:0864889 | hemoglobin e-beta-thalassemia syndrome | GARD:20609 | MONDO:equivalentTo | Hemoglobin E-beta-thalassemia syndrome | | | -| MONDO:0864890 | beta-thalassemia with other manifestations | GARD:20610 | MONDO:equivalentTo | Beta-thalassemia with other manifestations | | | -| MONDO:0864891 | variant of guillain-barré syndrome | GARD:20611 | MONDO:equivalentTo | Variant of Guillain-Barré syndrome | | | -| MONDO:0864892 | regional variant of guillain-barré syndrome | GARD:20612 | MONDO:equivalentTo | Regional variant of Guillain-Barré syndrome | | | -| MONDO:0864893 | functional variant of guillain-barré syndrome | GARD:20613 | MONDO:equivalentTo | Functional variant of Guillain-Barré syndrome | | | -| MONDO:0864894 | pharyngeal-cervical-brachial variant of guillain-barré syndrome | GARD:20614 | MONDO:equivalentTo | Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome | | | -| MONDO:0864895 | paraparetic variant of guillain-barré syndrome | GARD:20615 | MONDO:equivalentTo | Paraparetic variant of Guillain-Barré syndrome | | | -| MONDO:0864896 | acute pure sensory neuropathy | GARD:20616 | MONDO:equivalentTo | Acute pure sensory neuropathy | | | -| MONDO:0864897 | acute pandysautonomia | GARD:20617 | MONDO:equivalentTo | Acute pandysautonomia | | | -| MONDO:0864898 | acute sensory ataxic neuropathy | GARD:20618 | MONDO:equivalentTo | Acute sensory ataxic neuropathy | | | -| MONDO:0864899 | congenital erosive and vesicular dermatosis | GARD:20619 | MONDO:equivalentTo | Congenital erosive and vesicular dermatosis | | | -| MONDO:0864900 | primary unilateral adrenal hyperplasia | GARD:20620 | MONDO:equivalentTo | Primary unilateral adrenal hyperplasia | | | -| MONDO:0864901 | adrenocortical carcinoma with pure aldosterone hypersecretion | GARD:20621 | MONDO:equivalentTo | Adrenocortical carcinoma with pure aldosterone hypersecretion | | | -| MONDO:0864902 | ectopic aldosterone-producing tumor | GARD:20622 | MONDO:equivalentTo | Ectopic aldosterone-producing tumor | | | -| MONDO:0864903 | rare surgically correctable form of primary aldosteronism | GARD:20623 | MONDO:equivalentTo | Rare surgically correctable form of primary aldosteronism | | | -| MONDO:0864904 | rare non surgically correctable form of primary aldosteronism | GARD:20624 | MONDO:equivalentTo | Rare non surgically correctable form of primary aldosteronism | | | -| MONDO:0864905 | epibulbar lipodermoid-preauricular appendage-polythelia syndrome | GARD:20625 | MONDO:equivalentTo | Epibulbar lipodermoid-preauricular appendage-polythelia syndrome | | | -| MONDO:0864906 | infectious embryofetopathy | GARD:20626 | MONDO:equivalentTo | Infectious embryofetopathy | | | -| MONDO:0864907 | syndrome with alpha-thalassemia as a major feature | GARD:20627 | MONDO:equivalentTo | Syndrome with alpha-thalassemia as a major feature | | | -| MONDO:0864908 | rare genetic vascular disease | GARD:20628 | MONDO:equivalentTo | Rare genetic vascular disease | | | -| MONDO:0864909 | congenital vascular bone syndrome | GARD:20629 | MONDO:equivalentTo | Congenital vascular bone syndrome | | | -| MONDO:0864910 | familial hyperaldosteronism | GARD:20630 | MONDO:equivalentTo | Familial hyperaldosteronism | | | -| MONDO:0864911 | aapoaii amyloidosis | GARD:20631 | MONDO:equivalentTo | AApoAII amyloidosis | | | -| MONDO:0864912 | infundibulo-neurohypophysitis | GARD:20632 | MONDO:equivalentTo | Infundibulo-neurohypophysitis | | | -| MONDO:0864913 | lymphoproliferative syndrome | GARD:20633 | MONDO:equivalentTo | Lymphoproliferative syndrome | | | -| MONDO:0864914 | hypotonia-cystinuria type 1 syndrome | GARD:20634 | MONDO:equivalentTo | Hypotonia-cystinuria type 1 syndrome | | | -| MONDO:0864915 | congenital secondary polycythemia | GARD:20635 | MONDO:equivalentTo | Congenital secondary polycythemia | | | -| MONDO:0864916 | acquired secondary polycythemia | GARD:20636 | MONDO:equivalentTo | Acquired secondary polycythemia | | | -| MONDO:0864917 | ileal pouch anal anastomosis related faecal incontinence | GARD:20637 | MONDO:equivalentTo | Ileal pouch anal anastomosis related faecal incontinence | | | -| MONDO:0864918 | megacystis-megaureter syndrome | GARD:20638 | MONDO:equivalentTo | Megacystis-megaureter syndrome | | | -| MONDO:0864919 | primary megaureter, adult-onset form | GARD:20639 | MONDO:equivalentTo | Primary megaureter, adult-onset form | | | -| MONDO:0864920 | congenital primary megaureter, obstructed form | GARD:20640 | MONDO:equivalentTo | Congenital primary megaureter, obstructed form | | | -| MONDO:0864921 | congenital primary megaureter, refluxing form | GARD:20641 | MONDO:equivalentTo | Congenital primary megaureter, refluxing form | | | -| MONDO:0864922 | congenital primary megaureter, nonrefluxing and unobstructed form | GARD:20642 | MONDO:equivalentTo | Congenital primary megaureter, nonrefluxing and unobstructed form | | | -| MONDO:0864923 | isolated congenital hypogonadotropic hypogonadism | GARD:20643 | MONDO:equivalentTo | Isolated congenital hypogonadotropic hypogonadism | | | -| MONDO:0864924 | neonatal iodine exposure | GARD:20644 | MONDO:equivalentTo | Neonatal iodine exposure | | | -| MONDO:0864925 | transient congenital hypothyroidism due to maternal factor | GARD:20645 | MONDO:equivalentTo | Transient congenital hypothyroidism due to maternal factor | | | -| MONDO:0864926 | transient congenital hypothyroidism due to neonatal factor | GARD:20646 | MONDO:equivalentTo | Transient congenital hypothyroidism due to neonatal factor | | | -| MONDO:0864927 | progressive supranuclear palsy-pure akinesia with gait freezing syndrome | GARD:20647 | MONDO:equivalentTo | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | | | -| MONDO:0864928 | progressive supranuclear palsy-corticobasal syndrome | GARD:20648 | MONDO:equivalentTo | Progressive supranuclear palsy-corticobasal syndrome | | | -| MONDO:0864929 | progressive supranuclear palsy-progressive non-fluent aphasia syndrome | GARD:20649 | MONDO:equivalentTo | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | | | -| MONDO:0864930 | syndromic obesity | GARD:20650 | MONDO:equivalentTo | Syndromic obesity | | | -| MONDO:0864931 | de novo thrombotic microangiopathy after kidney transplantation | GARD:20651 | MONDO:equivalentTo | De novo thrombotic microangiopathy after kidney transplantation | | | -| MONDO:0864932 | biliary atresia with splenic malformation syndrome | GARD:20652 | MONDO:equivalentTo | Biliary atresia with splenic malformation syndrome | | | -| MONDO:0864933 | infantile mercury poisoning | GARD:20653 | MONDO:equivalentTo | Infantile mercury poisoning | | | -| MONDO:0864934 | sporadic adult-onset ataxia of unknown etiology | GARD:20654 | MONDO:equivalentTo | Sporadic adult-onset ataxia of unknown etiology | | | -| MONDO:0864935 | non-hereditary degenerative ataxia | GARD:20655 | MONDO:equivalentTo | Non-hereditary degenerative ataxia | | | -| MONDO:0864936 | acquired ataxia | GARD:20656 | MONDO:equivalentTo | Acquired ataxia | | | -| MONDO:0864937 | inhalational anthrax | GARD:20657 | MONDO:equivalentTo | Inhalational anthrax | | | -| MONDO:0864938 | autosomal recessive secondary polycythemia not associated with vhl gene | GARD:20658 | MONDO:equivalentTo | Autosomal recessive secondary polycythemia not associated with VHL gene | | | -| MONDO:0864939 | acute neonatal citrullinemia type i | GARD:20659 | MONDO:equivalentTo | Acute neonatal citrullinemia type I | | | -| MONDO:0864940 | adult-onset citrullinemia type i | GARD:20660 | MONDO:equivalentTo | Adult-onset citrullinemia type I | | | -| MONDO:0864941 | citrin deficiency | GARD:20661 | MONDO:equivalentTo | Citrin deficiency | | | -| MONDO:0864942 | prenatal benign hypophosphatasia | GARD:20662 | MONDO:equivalentTo | Prenatal benign hypophosphatasia | | | -| MONDO:0864943 | inflammatory myopathy with abundant macrophages | GARD:20663 | MONDO:equivalentTo | Inflammatory myopathy with abundant macrophages | | | -| MONDO:0864944 | idiopathic eosinophilic myositis | GARD:20664 | MONDO:equivalentTo | Idiopathic eosinophilic myositis | | | -| MONDO:0864945 | x-linked cerebellar ataxia | GARD:20665 | MONDO:equivalentTo | X-linked cerebellar ataxia | | | -| MONDO:0864946 | autosomal recessive ataxia due to pex10 deficiency | GARD:20666 | MONDO:equivalentTo | Autosomal recessive ataxia due to PEX10 deficiency | | | -| MONDO:0864947 | primary hypertrophic osteoarthropathy | GARD:20667 | MONDO:equivalentTo | Primary hypertrophic osteoarthropathy | | | -| MONDO:0864948 | rare deficiency anemia | GARD:20668 | MONDO:equivalentTo | Rare deficiency anemia | | | -| MONDO:0864949 | constitutional deficiency anemia | GARD:20669 | MONDO:equivalentTo | Constitutional deficiency anemia | | | -| MONDO:0864950 | rare acquired deficiency anemia | GARD:20670 | MONDO:equivalentTo | Rare acquired deficiency anemia | | | -| MONDO:0864951 | rare hemorrhagic disorder | GARD:20671 | MONDO:equivalentTo | Rare hemorrhagic disorder | | | -| MONDO:0864952 | rare hemorrhagic disorder due to a coagulation factors defect | GARD:20672 | MONDO:equivalentTo | Rare hemorrhagic disorder due to a coagulation factors defect | | | -| MONDO:0864953 | rare hemorrhagic disorder due to a platelet anomaly | GARD:20673 | MONDO:equivalentTo | Rare hemorrhagic disorder due to a platelet anomaly | | | -| MONDO:0864954 | isolated delta-storage pool disease | GARD:20674 | MONDO:equivalentTo | Isolated delta-storage pool disease | | | -| MONDO:0864955 | rare hemorrhagic disorder due to an acquired platelet anomaly | GARD:20675 | MONDO:equivalentTo | Rare hemorrhagic disorder due to an acquired platelet anomaly | | | -| MONDO:0864956 | rare thrombotic disorder due to a coagulation factors defect | GARD:20676 | MONDO:equivalentTo | Rare thrombotic disorder due to a coagulation factors defect | | | -| MONDO:0864957 | rare thrombotic disorder due to a constitutional coagulation factors defect | GARD:20677 | MONDO:equivalentTo | Rare thrombotic disorder due to a constitutional coagulation factors defect | | | -| MONDO:0864958 | rare thrombotic disorder due to an acquired coagulation factors defect | GARD:20678 | MONDO:equivalentTo | Rare thrombotic disorder due to an acquired coagulation factors defect | | | -| MONDO:0864959 | rare thrombotic disorder due to a platelet anomaly | GARD:20679 | MONDO:equivalentTo | Rare thrombotic disorder due to a platelet anomaly | | | -| MONDO:0864960 | ectrodactyly-polydactyly syndrome | GARD:2068 | MONDO:equivalentTo | Ectrodactyly-polydactyly syndrome | | | -| MONDO:0864961 | rare thrombotic disorder due to a constitutional platelet anomaly | GARD:20680 | MONDO:equivalentTo | Rare thrombotic disorder due to a constitutional platelet anomaly | | | -| MONDO:0864962 | rare thrombotic disorder due to an acquired platelet anomaly | GARD:20681 | MONDO:equivalentTo | Rare thrombotic disorder due to an acquired platelet anomaly | | | -| MONDO:0864963 | genetic polycythemia | GARD:20682 | MONDO:equivalentTo | Genetic polycythemia | | | -| MONDO:0864964 | serpinopathy | GARD:20683 | MONDO:equivalentTo | Serpinopathy | | | -| MONDO:0864965 | serpinopathy with toxic serpin polymerization | GARD:20684 | MONDO:equivalentTo | Serpinopathy with toxic serpin polymerization | | | -| MONDO:0864966 | serpinopathy with loss of serpin function | GARD:20685 | MONDO:equivalentTo | Serpinopathy with loss of serpin function | | | -| MONDO:0864967 | autosomal dominant optic atrophy and peripheral neuropathy | GARD:20686 | MONDO:equivalentTo | Autosomal dominant optic atrophy and peripheral neuropathy | | | -| MONDO:0864968 | polymicrogyria with optic nerve hypoplasia | GARD:20687 | MONDO:equivalentTo | Polymicrogyria with optic nerve hypoplasia | | | -| MONDO:0864969 | paternal uniparental disomy of chromosome 1 | GARD:20688 | MONDO:equivalentTo | Paternal uniparental disomy of chromosome 1 | | | -| MONDO:0864970 | maternal uniparental disomy of chromosome 1 | GARD:20689 | MONDO:equivalentTo | Maternal uniparental disomy of chromosome 1 | | | -| MONDO:0864971 | 2q31.1 microdeletion syndrome | GARD:20690 | MONDO:equivalentTo | 2q31.1 microdeletion syndrome | | | -| MONDO:0864972 | 6p22 microdeletion syndrome | GARD:20691 | MONDO:equivalentTo | 6p22 microdeletion syndrome | | | -| MONDO:0864973 | 7q31 microdeletion syndrome | GARD:20692 | MONDO:equivalentTo | 7q31 microdeletion syndrome | | | -| MONDO:0864974 | 8p11.2 deletion syndrome | GARD:20693 | MONDO:equivalentTo | 8p11.2 deletion syndrome | | | -| MONDO:0864975 | infantile onset panniculitis with uveitis and systemic granulomatosis | GARD:20694 | MONDO:equivalentTo | Infantile onset panniculitis with uveitis and systemic granulomatosis | | | -| MONDO:0864976 | idiopathic recurrent pericarditis | GARD:20695 | MONDO:equivalentTo | Idiopathic recurrent pericarditis | | | -| MONDO:0864977 | overlapping connective tissue disease | GARD:20696 | MONDO:equivalentTo | Overlapping connective tissue disease | | | -| MONDO:0864978 | drug-induced vasculitis | GARD:20697 | MONDO:equivalentTo | Drug-induced vasculitis | | | -| MONDO:0864979 | unclassified vasculitis | GARD:20698 | MONDO:equivalentTo | Unclassified vasculitis | | | -| MONDO:0864980 | unexplained long-lasting fever/inflammatory syndrome | GARD:20699 | MONDO:equivalentTo | Unexplained long-lasting fever/inflammatory syndrome | | | -| MONDO:0864981 | alveolar echinococcosis | GARD:207 | MONDO:equivalentTo | Alveolar echinococcosis | | | -| MONDO:0864982 | sickle cell-hemoglobin e disease syndrome | GARD:20700 | MONDO:equivalentTo | Sickle cell-hemoglobin E disease syndrome | | | -| MONDO:0864983 | toxic or drug-related embryofetopathy | GARD:20701 | MONDO:equivalentTo | Toxic or drug-related embryofetopathy | | | -| MONDO:0864984 | maternal disease-related embryofetopathy | GARD:20702 | MONDO:equivalentTo | Maternal disease-related embryofetopathy | | | -| MONDO:0864985 | rare tumor of neuroepithelial tissue | GARD:20703 | MONDO:equivalentTo | Rare tumor of neuroepithelial tissue | | | -| MONDO:0864986 | high-grade astrocytoma | GARD:20704 | MONDO:equivalentTo | High-grade astrocytoma | | | -| MONDO:0864987 | giant cell glioblastoma | GARD:20705 | MONDO:equivalentTo | Giant cell glioblastoma | | | -| MONDO:0864988 | low-grade astrocytoma | GARD:20706 | MONDO:equivalentTo | Low-grade astrocytoma | | | -| MONDO:0864989 | protoplasmic astrocytoma | GARD:20707 | MONDO:equivalentTo | Protoplasmic astrocytoma | | | -| MONDO:0864990 | fibrillary astrocytoma | GARD:20708 | MONDO:equivalentTo | Fibrillary astrocytoma | | | -| MONDO:0864991 | gemistocytic astrocytoma | GARD:20709 | MONDO:equivalentTo | Gemistocytic astrocytoma | | | -| MONDO:0864992 | blepharo-cheilo-odontic syndrome | GARD:2071 | MONDO:equivalentTo | Blepharo-cheilo-odontic syndrome | | | -| MONDO:0864993 | pilomyxoid astrocytoma | GARD:20710 | MONDO:equivalentTo | Pilomyxoid astrocytoma | | | -| MONDO:0864994 | pituicytoma | GARD:20711 | MONDO:equivalentTo | Pituicytoma | | | -| MONDO:0864995 | oligoastrocytic tumor | GARD:20712 | MONDO:equivalentTo | Oligoastrocytic tumor | | | -| MONDO:0864996 | glial tumor of neuroepithelial tissue with unknown origin | GARD:20713 | MONDO:equivalentTo | Glial tumor of neuroepithelial tissue with unknown origin | | | -| MONDO:0864997 | angiocentric glioma | GARD:20714 | MONDO:equivalentTo | Angiocentric glioma | | | -| MONDO:0864998 | chordoid glioma | GARD:20715 | MONDO:equivalentTo | Chordoid glioma | | | -| MONDO:0864999 | embryonal tumor of neuroepithelial tissue | GARD:20716 | MONDO:equivalentTo | Embryonal tumor of neuroepithelial tissue | | | -| MONDO:0865000 | anaplastic/large cell medulloblastoma | GARD:20717 | MONDO:equivalentTo | Anaplastic/large cell medulloblastoma | | | -| MONDO:0865001 | central nervous system embryonal tumor | GARD:20718 | MONDO:equivalentTo | Central nervous system embryonal tumor | | | -| MONDO:0865002 | ganglioneuroblastoma | GARD:20719 | MONDO:equivalentTo | Ganglioneuroblastoma | | | -| MONDO:0865003 | ependymoblastoma | GARD:20720 | MONDO:equivalentTo | Ependymoblastoma | | | -| MONDO:0865004 | medulloepithelioma of the central nervous system | GARD:20721 | MONDO:equivalentTo | Medulloepithelioma of the central nervous system | | | -| MONDO:0865005 | choroid plexus tumor | GARD:20722 | MONDO:equivalentTo | Choroid plexus tumor | | | -| MONDO:0865006 | atypical papilloma of choroid plexus | GARD:20723 | MONDO:equivalentTo | Atypical papilloma of choroid plexus | | | -| MONDO:0865007 | pineal tumor of neuroepithelial tissue | GARD:20724 | MONDO:equivalentTo | Pineal tumor of neuroepithelial tissue | | | -| MONDO:0865008 | papillary tumor of the pineal region | GARD:20725 | MONDO:equivalentTo | Papillary tumor of the pineal region | | | -| MONDO:0865009 | neuronal tumor | GARD:20726 | MONDO:equivalentTo | Neuronal tumor | | | -| MONDO:0865010 | extraventricular neurocytoma | GARD:20727 | MONDO:equivalentTo | Extraventricular neurocytoma | | | -| MONDO:0865011 | mixed neuronal-glial tumor | GARD:20728 | MONDO:equivalentTo | Mixed neuronal-glial tumor | | | -| MONDO:0865012 | desmoplastic infantile astrocytoma/ganglioglioma | GARD:20729 | MONDO:equivalentTo | Desmoplastic infantile astrocytoma/ganglioglioma | | | -| MONDO:0865013 | papillary glioneuronal tumor | GARD:20730 | MONDO:equivalentTo | Papillary glioneuronal tumor | | | -| MONDO:0865014 | ganglioneuroma | GARD:20731 | MONDO:equivalentTo | Ganglioneuroma | | | -| MONDO:0865015 | primary germ cell tumor of central nervous system | GARD:20732 | MONDO:equivalentTo | Primary germ cell tumor of central nervous system | | | -| MONDO:0865016 | yolk sac tumor of central nervous system | GARD:20733 | MONDO:equivalentTo | Yolk sac tumor of central nervous system | | | -| MONDO:0865017 | choriocarcinoma of the central nervous system | GARD:20734 | MONDO:equivalentTo | Choriocarcinoma of the central nervous system | | | -| MONDO:0865018 | teratoma of the central nervous system | GARD:20735 | MONDO:equivalentTo | Teratoma of the central nervous system | | | -| MONDO:0865019 | mixed germ cell tumor of central nervous system | GARD:20736 | MONDO:equivalentTo | Mixed germ cell tumor of central nervous system | | | -| MONDO:0865020 | tumor of meninges | GARD:20737 | MONDO:equivalentTo | Tumor of meninges | | | -| MONDO:0865021 | primary melanocytic tumor of central nervous system | GARD:20738 | MONDO:equivalentTo | Primary melanocytic tumor of central nervous system | | | -| MONDO:0865022 | diffuse leptomeningeal melanocytosis | GARD:20739 | MONDO:equivalentTo | Diffuse leptomeningeal melanocytosis | | | -| MONDO:0865023 | edinburgh malformation syndrome | GARD:2074 | MONDO:equivalentTo | Edinburgh malformation syndrome | | | -| MONDO:0865024 | meningeal melanocytoma | GARD:20740 | MONDO:equivalentTo | Meningeal melanocytoma | | | -| MONDO:0865025 | malignant peripheral nerve sheath tumor with perineurial differentiation | GARD:20741 | MONDO:equivalentTo | Malignant peripheral nerve sheath tumor with perineurial differentiation | | | -| MONDO:0865026 | inherited nervous system cancer-predisposing syndrome | GARD:20742 | MONDO:equivalentTo | Inherited nervous system cancer-predisposing syndrome | | | -| MONDO:0865027 | malignant triton tumor | GARD:20743 | MONDO:equivalentTo | Malignant triton tumor | | | -| MONDO:0865028 | rare cutaneous lichen planus | GARD:20744 | MONDO:equivalentTo | Rare cutaneous lichen planus | | | -| MONDO:0865029 | rare mucosal lichen planus | GARD:20745 | MONDO:equivalentTo | Rare mucosal lichen planus | | | -| MONDO:0865030 | inhalational botulism | GARD:20746 | MONDO:equivalentTo | Inhalational botulism | | | -| MONDO:0865031 | iatrogenic botulism | GARD:20747 | MONDO:equivalentTo | Iatrogenic botulism | | | -| MONDO:0865032 | gestational trophoblastic disease | GARD:20748 | MONDO:equivalentTo | Gestational trophoblastic disease | | | -| MONDO:0865033 | partial hydatidiform mole | GARD:20749 | MONDO:equivalentTo | Partial hydatidiform mole | | | -| MONDO:0865034 | epithelioid trophoblastic tumor | GARD:20750 | MONDO:equivalentTo | Epithelioid trophoblastic tumor | | | -| MONDO:0865035 | genetic hyperferritinemia without iron overload | GARD:20751 | MONDO:equivalentTo | Genetic hyperferritinemia without iron overload | | | -| MONDO:0865036 | pyruvate metabolism disorder | GARD:20752 | MONDO:equivalentTo | Pyruvate metabolism disorder | | | -| MONDO:0865037 | tricarboxylic acid cycle disorder | GARD:20753 | MONDO:equivalentTo | Tricarboxylic acid cycle disorder | | | -| MONDO:0865038 | mitochondrial oxidative phosphorylation disorder due to mitochondrial dna anomalies | GARD:20754 | MONDO:equivalentTo | Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies | | | -| MONDO:0865039 | mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial dna | GARD:20755 | MONDO:equivalentTo | Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA | | | -| MONDO:0865040 | mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial dna | GARD:20756 | MONDO:equivalentTo | Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA | | | -| MONDO:0865041 | mitochondrial dna-related mitochondrial myopathy | GARD:20757 | MONDO:equivalentTo | Mitochondrial DNA-related mitochondrial myopathy | | | -| MONDO:0865042 | multiple mitochondrial dna deletion syndrome | GARD:20758 | MONDO:equivalentTo | Multiple mitochondrial DNA deletion syndrome | | | -| MONDO:0865043 | ataxia neuropathy spectrum | GARD:20759 | MONDO:equivalentTo | Ataxia neuropathy spectrum | | | -| MONDO:0865044 | eec syndrome | GARD:2076 | MONDO:equivalentTo | EEC syndrome | | | -| MONDO:0865045 | mitochondrial oxidative phosphorylation disorder with no known mechanism | GARD:20760 | MONDO:equivalentTo | Mitochondrial oxidative phosphorylation disorder with no known mechanism | | | -| MONDO:0865046 | mitochondrial membrane transport disorder | GARD:20761 | MONDO:equivalentTo | Mitochondrial membrane transport disorder | | | -| MONDO:0865047 | mitochondrial substrate carrier disorder | GARD:20762 | MONDO:equivalentTo | Mitochondrial substrate carrier disorder | | | -| MONDO:0865048 | mitochondrial protein import disorder | GARD:20763 | MONDO:equivalentTo | Mitochondrial protein import disorder | | | -| MONDO:0865049 | unspecified mitochondrial disorder | GARD:20764 | MONDO:equivalentTo | Unspecified mitochondrial disorder | | | -| MONDO:0865050 | exercise intolerance with lactic acidosis | GARD:20765 | MONDO:equivalentTo | Exercise intolerance with lactic acidosis | | | -| MONDO:0865051 | isolated oxidative phosphorylation complex disorder | GARD:20766 | MONDO:equivalentTo | Isolated oxidative phosphorylation complex disorder | | | -| MONDO:0865052 | mitochondrial dna-related dystonia | GARD:20767 | MONDO:equivalentTo | Mitochondrial DNA-related dystonia | | | -| MONDO:0865053 | pure mitochondrial myopathy | GARD:20768 | MONDO:equivalentTo | Pure mitochondrial myopathy | | | -| MONDO:0865054 | mitochondrial dna depletion syndrome, hepatocerebral form | GARD:20769 | MONDO:equivalentTo | Mitochondrial DNA depletion syndrome, hepatocerebral form | | | -| MONDO:0865055 | distal 7q11.23 microduplication syndrome | GARD:20770 | MONDO:equivalentTo | Distal 7q11.23 microduplication syndrome | | | -| MONDO:0865056 | foxg1 syndrome due to 14q12 microdeletion | GARD:20771 | MONDO:equivalentTo | FOXG1 syndrome due to 14q12 microdeletion | | | -| MONDO:0865057 | 16p11.2p12.2 microduplication syndrome | GARD:20772 | MONDO:equivalentTo | 16p11.2p12.2 microduplication syndrome | | | -| MONDO:0865058 | 14q11.2 microduplication syndrome | GARD:20773 | MONDO:equivalentTo | 14q11.2 microduplication syndrome | | | -| MONDO:0865059 | 16p13.11 microdeletion syndrome | GARD:20774 | MONDO:equivalentTo | 16p13.11 microdeletion syndrome | | | -| MONDO:0865060 | 16p13.11 microduplication syndrome | GARD:20775 | MONDO:equivalentTo | 16p13.11 microduplication syndrome | | | -| MONDO:0865061 | distal 17p13.3 microdeletion syndrome | GARD:20776 | MONDO:equivalentTo | Distal 17p13.3 microdeletion syndrome | | | -| MONDO:0865062 | paternal 20q13.2q13.3 microdeletion syndrome | GARD:20777 | MONDO:equivalentTo | Paternal 20q13.2q13.3 microdeletion syndrome | | | -| MONDO:0865063 | 20q13.33 microdeletion syndrome | GARD:20778 | MONDO:equivalentTo | 20q13.33 microdeletion syndrome | | | -| MONDO:0865064 | 21q22.11q22.12 microdeletion syndrome | GARD:20779 | MONDO:equivalentTo | 21q22.11q22.12 microdeletion syndrome | | | -| MONDO:0865065 | eem syndrome | GARD:2078 | MONDO:equivalentTo | EEM syndrome | | | -| MONDO:0865066 | distal 22q11.2 microduplication syndrome | GARD:20780 | MONDO:equivalentTo | Distal 22q11.2 microduplication syndrome | | | -| MONDO:0865067 | trisomy 1q | GARD:20781 | MONDO:equivalentTo | Trisomy 1q | | | -| MONDO:0865068 | atypical norrie disease due to xp11.3 microdeletion | GARD:20782 | MONDO:equivalentTo | Atypical Norrie disease due to Xp11.3 microdeletion | | | -| MONDO:0865069 | maternal uniparental disomy of chromosome x | GARD:20783 | MONDO:equivalentTo | Maternal uniparental disomy of chromosome X | | | -| MONDO:0865070 | paternal uniparental disomy of chromosome x | GARD:20784 | MONDO:equivalentTo | Paternal uniparental disomy of chromosome X | | | -| MONDO:0865071 | ring chromosome y syndrome | GARD:20785 | MONDO:equivalentTo | Ring chromosome Y syndrome | | | -| MONDO:0865072 | familial adenomatous polyposis due to 5q22.2 microdeletion | GARD:20786 | MONDO:equivalentTo | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | -| MONDO:0865073 | okihiro syndrome due to 20q13 microdeletion | GARD:20787 | MONDO:equivalentTo | Okihiro syndrome due to 20q13 microdeletion | | | -| MONDO:0865074 | okihiro syndrome due to a point mutation | GARD:20788 | MONDO:equivalentTo | Okihiro syndrome due to a point mutation | | | -| MONDO:0865075 | partial deletion of chromosome 1 | GARD:20789 | MONDO:equivalentTo | Partial deletion of chromosome 1 | | | -| MONDO:0865076 | partial deletion of chromosome 2 | GARD:20790 | MONDO:equivalentTo | Partial deletion of chromosome 2 | | | -| MONDO:0865077 | partial deletion of chromosome 3 | GARD:20791 | MONDO:equivalentTo | Partial deletion of chromosome 3 | | | -| MONDO:0865078 | partial deletion of chromosome 4 | GARD:20792 | MONDO:equivalentTo | Partial deletion of chromosome 4 | | | -| MONDO:0865079 | partial deletion of chromosome 5 | GARD:20793 | MONDO:equivalentTo | Partial deletion of chromosome 5 | | | -| MONDO:0865080 | partial deletion of chromosome 6 | GARD:20794 | MONDO:equivalentTo | Partial deletion of chromosome 6 | | | -| MONDO:0865081 | partial deletion of chromosome 7 | GARD:20795 | MONDO:equivalentTo | Partial deletion of chromosome 7 | | | -| MONDO:0865082 | partial deletion of chromosome 8 | GARD:20796 | MONDO:equivalentTo | Partial deletion of chromosome 8 | | | -| MONDO:0865083 | partial deletion of chromosome 9 | GARD:20797 | MONDO:equivalentTo | Partial deletion of chromosome 9 | | | -| MONDO:0865084 | partial deletion of chromosome 10 | GARD:20798 | MONDO:equivalentTo | Partial deletion of chromosome 10 | | | -| MONDO:0865085 | partial deletion of chromosome 11 | GARD:20799 | MONDO:equivalentTo | Partial deletion of chromosome 11 | | | -| MONDO:0865086 | partial deletion of the long arm of chromosome 12 | GARD:20800 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 12 | | | -| MONDO:0865087 | partial deletion of chromosome 16 | GARD:20801 | MONDO:equivalentTo | Partial deletion of chromosome 16 | | | -| MONDO:0865088 | partial deletion of chromosome 17 | GARD:20802 | MONDO:equivalentTo | Partial deletion of chromosome 17 | | | -| MONDO:0865089 | partial deletion of chromosome 18 | GARD:20803 | MONDO:equivalentTo | Partial deletion of chromosome 18 | | | -| MONDO:0865090 | partial deletion of chromosome 19 | GARD:20804 | MONDO:equivalentTo | Partial deletion of chromosome 19 | | | -| MONDO:0865091 | partial deletion of chromosome 20 | GARD:20805 | MONDO:equivalentTo | Partial deletion of chromosome 20 | | | -| MONDO:0865092 | partial deletion of the short arm of chromosome 1 | GARD:20806 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 1 | | | -| MONDO:0865093 | partial deletion of the short arm of chromosome 2 | GARD:20807 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 2 | | | -| MONDO:0865094 | partial deletion of the short arm of chromosome 4 | GARD:20808 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 4 | | | -| MONDO:0865095 | partial deletion of the short arm of chromosome 5 | GARD:20809 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 5 | | | -| MONDO:0865096 | hypermobile ehlers-danlos syndrome | GARD:2081 | MONDO:equivalentTo | Hypermobile Ehlers-Danlos syndrome | | | -| MONDO:0865097 | partial deletion of the short arm of chromosome 6 | GARD:20810 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 6 | | | -| MONDO:0865098 | partial deletion of the short arm of chromosome 7 | GARD:20811 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 7 | | | -| MONDO:0865099 | partial deletion of the short arm of chromosome 8 | GARD:20812 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 8 | | | -| MONDO:0865100 | partial deletion of the short arm of chromosome 9 | GARD:20813 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 9 | | | -| MONDO:0865101 | partial deletion of the short arm of chromosome 10 | GARD:20814 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 10 | | | -| MONDO:0865102 | partial deletion of the short arm of chromosome 11 | GARD:20815 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 11 | | | -| MONDO:0865103 | partial deletion of the short arm of chromosome 16 | GARD:20816 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 16 | | | -| MONDO:0865104 | partial monosomy of the short arm of chromosome 17 | GARD:20817 | MONDO:equivalentTo | Partial monosomy of the short arm of chromosome 17 | | | -| MONDO:0865105 | partial deletion of the short arm of chromosome 18 | GARD:20818 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 18 | | | -| MONDO:0865106 | partial deletion of the short arm of chromosome 19 | GARD:20819 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 19 | | | -| MONDO:0865107 | vascular ehlers-danlos syndrome | GARD:2082 | MONDO:equivalentTo | Vascular Ehlers-Danlos syndrome | | | -| MONDO:0865108 | partial monosomy of the short arm of chromosome 20 | GARD:20820 | MONDO:equivalentTo | Partial monosomy of the short arm of chromosome 20 | | | -| MONDO:0865109 | partial deletion of the long arm of chromosome 1 | GARD:20821 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 1 | | | -| MONDO:0865110 | partial deletion of the long arm of chromosome 2 | GARD:20822 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 2 | | | -| MONDO:0865111 | partial deletion of the long arm of chromosome 3 | GARD:20823 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 3 | | | -| MONDO:0865112 | partial deletion of the long arm of chromosome 4 | GARD:20824 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 4 | | | -| MONDO:0865113 | partial deletion of the long arm of chromosome 5 | GARD:20825 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 5 | | | -| MONDO:0865114 | partial deletion of the long arm of chromosome 6 | GARD:20826 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 6 | | | -| MONDO:0865115 | partial deletion of the long arm of chromosome 7 | GARD:20827 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 7 | | | -| MONDO:0865116 | partial deletion of the long arm of chromosome 8 | GARD:20828 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 8 | | | -| MONDO:0865117 | partial monosomy of the long arm of chromosome 9 | GARD:20829 | MONDO:equivalentTo | Partial monosomy of the long arm of chromosome 9 | | | -| MONDO:0865118 | kyphoscoliotic ehlers-danlos syndrome | GARD:2083 | MONDO:equivalentTo | Kyphoscoliotic Ehlers-Danlos syndrome | | | -| MONDO:0865119 | partial monosomy of the long arm of chromosome 10 | GARD:20830 | MONDO:equivalentTo | Partial monosomy of the long arm of chromosome 10 | | | -| MONDO:0865120 | partial deletion of the long arm of chromosome 11 | GARD:20831 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 11 | | | -| MONDO:0865121 | partial deletion of the long arm of chromosome 13 | GARD:20832 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 13 | | | -| MONDO:0865122 | partial deletion of the long arm of chromosome 14 | GARD:20833 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 14 | | | -| MONDO:0865123 | partial deletion of the long arm of chromosome 15 | GARD:20834 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 15 | | | -| MONDO:0865124 | partial deletion of the long arm of chromosome 16 | GARD:20835 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 16 | | | -| MONDO:0865125 | partial deletion of the long arm of chromosome 17 | GARD:20836 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 17 | | | -| MONDO:0865126 | partial deletion of the long arm of chromosome 18 | GARD:20837 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 18 | | | -| MONDO:0865127 | partial deletion of the long arm of chromosome 19 | GARD:20838 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 19 | | | -| MONDO:0865128 | partial deletion of the long arm of chromosome 20 | GARD:20839 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 20 | | | -| MONDO:0865129 | arthrochalasia ehlers-danlos syndrome | GARD:2084 | MONDO:equivalentTo | Arthrochalasia Ehlers-Danlos syndrome | | | -| MONDO:0865130 | partial deletion of the long arm of chromosome 21 | GARD:20840 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 21 | | | -| MONDO:0865131 | partial deletion of the long arm of chromosome 22 | GARD:20841 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome 22 | | | -| MONDO:0865132 | partial duplication of chromosome 1 | GARD:20842 | MONDO:equivalentTo | Partial duplication of chromosome 1 | | | -| MONDO:0865133 | partial duplication of chromosome 2 | GARD:20843 | MONDO:equivalentTo | Partial duplication of chromosome 2 | | | -| MONDO:0865134 | partial duplication of chromosome 3 | GARD:20844 | MONDO:equivalentTo | Partial duplication of chromosome 3 | | | -| MONDO:0865135 | partial duplication of chromosome 4 | GARD:20845 | MONDO:equivalentTo | Partial duplication of chromosome 4 | | | -| MONDO:0865136 | partial trisomy/tetrasomy of chromosome 5 | GARD:20846 | MONDO:equivalentTo | Partial trisomy/tetrasomy of chromosome 5 | | | -| MONDO:0865137 | partial duplication of chromosome 6 | GARD:20847 | MONDO:equivalentTo | Partial duplication of chromosome 6 | | | -| MONDO:0865138 | partial duplication of chromosome 7 | GARD:20848 | MONDO:equivalentTo | Partial duplication of chromosome 7 | | | -| MONDO:0865139 | partial duplication of chromosome 8 | GARD:20849 | MONDO:equivalentTo | Partial duplication of chromosome 8 | | | -| MONDO:0865140 | partial trisomy/tetrasomy of chromosome 9 | GARD:20850 | MONDO:equivalentTo | Partial trisomy/tetrasomy of chromosome 9 | | | -| MONDO:0865141 | partial duplication of chromosome 10 | GARD:20851 | MONDO:equivalentTo | Partial duplication of chromosome 10 | | | -| MONDO:0865142 | partial duplication of chromosome 11 | GARD:20852 | MONDO:equivalentTo | Partial duplication of chromosome 11 | | | -| MONDO:0865143 | partial trisomy/tetrasomy of the short arm of chromosome 12 | GARD:20853 | MONDO:equivalentTo | Partial trisomy/tetrasomy of the short arm of chromosome 12 | | | -| MONDO:0865144 | partial duplication of chromosome 16 | GARD:20854 | MONDO:equivalentTo | Partial duplication of chromosome 16 | | | -| MONDO:0865145 | partial duplication of chromosome 17 | GARD:20855 | MONDO:equivalentTo | Partial duplication of chromosome 17 | | | -| MONDO:0865146 | partial trisomy/tetrasomy of chromosome 18 | GARD:20856 | MONDO:equivalentTo | Partial trisomy/tetrasomy of chromosome 18 | | | -| MONDO:0865147 | partial duplication of chromosome 19 | GARD:20857 | MONDO:equivalentTo | Partial duplication of chromosome 19 | | | -| MONDO:0865148 | partial trisomy of chromosome 20 | GARD:20858 | MONDO:equivalentTo | Partial trisomy of chromosome 20 | | | -| MONDO:0865149 | partial duplication of the short arm of chromosome 2 | GARD:20859 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome 2 | | | -| MONDO:0865150 | partial duplication of the short arm of chromosome 3 | GARD:20860 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome 3 | | | -| MONDO:0865151 | partial duplication of the short arm of chromosome 4 | GARD:20861 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome 4 | | | -| MONDO:0865152 | partial trisomy/tetrasomy of the short arm of chromosome 5 | GARD:20862 | MONDO:equivalentTo | Partial trisomy/tetrasomy of the short arm of chromosome 5 | | | -| MONDO:0865153 | partial duplication of the short arm of chromosome 6 | GARD:20863 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome 6 | | | -| MONDO:0865154 | partial duplication of the short arm of chromosome 7 | GARD:20864 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome 7 | | | -| MONDO:0865155 | partial duplication of the short arm of chromosome 8 | GARD:20865 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome 8 | | | -| MONDO:0865156 | partial trisomy/tetrasomy of the short arm of chromosome 9 | GARD:20866 | MONDO:equivalentTo | Partial trisomy/tetrasomy of the short arm of chromosome 9 | | | -| MONDO:0865157 | partial duplication of the short arm of chromosome 10 | GARD:20867 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome 10 | | | -| MONDO:0865158 | partial duplication of the short arm of chromosome 11 | GARD:20868 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome 11 | | | -| MONDO:0865159 | partial duplication of the short arm of chromosome 16 | GARD:20869 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome 16 | | | -| MONDO:0865160 | partial duplication of the short arm of chromosome 17 | GARD:20870 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome 17 | | | -| MONDO:0865161 | partial trisomy/tetrasomy of the short arm of chromosome 18 | GARD:20871 | MONDO:equivalentTo | Partial trisomy/tetrasomy of the short arm of chromosome 18 | | | -| MONDO:0865162 | partial duplication of the long arm of chromosome 1 | GARD:20872 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 1 | | | -| MONDO:0865163 | partial duplication of the long arm of chromosome 2 | GARD:20873 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 2 | | | -| MONDO:0865164 | partial duplication of the long arm of chromosome 3 | GARD:20874 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 3 | | | -| MONDO:0865165 | partial duplication of the long arm of chromosome 4 | GARD:20875 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 4 | | | -| MONDO:0865166 | partial trisomy of the long arm of chromosome 5 | GARD:20876 | MONDO:equivalentTo | Partial trisomy of the long arm of chromosome 5 | | | -| MONDO:0865167 | partial duplication of the long arm of chromosome 6 | GARD:20877 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 6 | | | -| MONDO:0865168 | partial duplication of the long arm of chromosome 7 | GARD:20878 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 7 | | | -| MONDO:0865169 | partial duplication of the long arm of chromosome 8 | GARD:20879 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 8 | | | -| MONDO:0865170 | classical ehlers-danlos syndrome | GARD:2088 | MONDO:equivalentTo | Classical Ehlers-Danlos syndrome | | | -| MONDO:0865171 | partial trisomy of the long arm of chromosome 9 | GARD:20880 | MONDO:equivalentTo | Partial trisomy of the long arm of chromosome 9 | | | -| MONDO:0865172 | partial duplication of the long arm of chromosome 10 | GARD:20881 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 10 | | | -| MONDO:0865173 | partial duplication of the long arm of chromosome 11 | GARD:20882 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 11 | | | -| MONDO:0865174 | partial duplication of the long arm of chromosome 13 | GARD:20883 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 13 | | | -| MONDO:0865175 | partial duplication of the long arm of chromosome 14 | GARD:20884 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 14 | | | -| MONDO:0865176 | partial duplication of the long arm of chromosome 15 | GARD:20885 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 15 | | | -| MONDO:0865177 | partial trisomy of the long arm of chromosome 16 | GARD:20886 | MONDO:equivalentTo | Partial trisomy of the long arm of chromosome 16 | | | -| MONDO:0865178 | partial duplication of the long arm of chromosome 17 | GARD:20887 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 17 | | | -| MONDO:0865179 | partial trisomy of the long arm of chromosome 18 | GARD:20888 | MONDO:equivalentTo | Partial trisomy of the long arm of chromosome 18 | | | -| MONDO:0865180 | partial duplication of the long arm of chromosome 19 | GARD:20889 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 19 | | | -| MONDO:0865181 | dermatosparaxis ehlers-danlos syndrome | GARD:2089 | MONDO:equivalentTo | Dermatosparaxis Ehlers-Danlos syndrome | | | -| MONDO:0865182 | partial trisomy of the long arm of chromosome 20 | GARD:20890 | MONDO:equivalentTo | Partial trisomy of the long arm of chromosome 20 | | | -| MONDO:0865183 | partial duplication of the long arm of chromosome 22 | GARD:20891 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome 22 | | | -| MONDO:0865184 | thymoma type a | GARD:20892 | MONDO:equivalentTo | Thymoma type A | | | -| MONDO:0865185 | thymoma type b | GARD:20893 | MONDO:equivalentTo | Thymoma type B | | | -| MONDO:0865186 | thymoma type ab | GARD:20894 | MONDO:equivalentTo | Thymoma type AB | | | -| MONDO:0865187 | well-differentiated thymic neuroendocrine carcinoma | GARD:20895 | MONDO:equivalentTo | Well-differentiated thymic neuroendocrine carcinoma | | | -| MONDO:0865188 | moderately-differentiated thymic neuroendocrine carcinoma | GARD:20896 | MONDO:equivalentTo | Moderately-differentiated thymic neuroendocrine carcinoma | | | -| MONDO:0865189 | poorly differentiated thymic neuroendocrine carcinoma | GARD:20897 | MONDO:equivalentTo | Poorly differentiated thymic neuroendocrine carcinoma | | | -| MONDO:0865190 | postcardiotomy right ventricular failure | GARD:20898 | MONDO:equivalentTo | Postcardiotomy right ventricular failure | | | -| MONDO:0865191 | infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | GARD:20899 | MONDO:equivalentTo | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | | | -| MONDO:0865192 | angiosarcoma | GARD:20900 | MONDO:equivalentTo | Angiosarcoma | | | -| MONDO:0865193 | nevus of ota | GARD:20901 | MONDO:equivalentTo | Nevus of Ota | | | -| MONDO:0865194 | congenital smooth muscle hamartoma | GARD:20902 | MONDO:equivalentTo | Congenital smooth muscle hamartoma | | | -| MONDO:0865195 | hyperinsulinism due to hnf4a deficiency | GARD:20903 | MONDO:equivalentTo | Hyperinsulinism due to HNF4A deficiency | | | -| MONDO:0865196 | peeling skin syndrome type c | GARD:20904 | MONDO:equivalentTo | Peeling skin syndrome type C | | | -| MONDO:0865197 | nk-cell enteropathy | GARD:20905 | MONDO:equivalentTo | NK-cell enteropathy | | | -| MONDO:0865198 | complex chromosomal rearrangement | GARD:20906 | MONDO:equivalentTo | Complex chromosomal rearrangement | | | -| MONDO:0865199 | x chromosome number anomaly | GARD:20907 | MONDO:equivalentTo | X chromosome number anomaly | | | -| MONDO:0865200 | x chromosome number anomaly with female phenotype | GARD:20908 | MONDO:equivalentTo | X chromosome number anomaly with female phenotype | | | -| MONDO:0865201 | x chromosome number anomaly with male phenotype | GARD:20909 | MONDO:equivalentTo | X chromosome number anomaly with male phenotype | | | -| MONDO:0865202 | polysomy of x chromosome | GARD:20910 | MONDO:equivalentTo | Polysomy of X chromosome | | | -| MONDO:0865203 | partial deletion of chromosome x | GARD:20911 | MONDO:equivalentTo | Partial deletion of chromosome X | | | -| MONDO:0865204 | partial monosomy of the short arm of chromosome x | GARD:20912 | MONDO:equivalentTo | Partial monosomy of the short arm of chromosome X | | | -| MONDO:0865205 | y chromosome number anomaly | GARD:20913 | MONDO:equivalentTo | Y chromosome number anomaly | | | -| MONDO:0865206 | x and y chromosomal anomaly | GARD:20914 | MONDO:equivalentTo | X and Y chromosomal anomaly | | | -| MONDO:0865207 | partial deletion of the long arm of chromosome x | GARD:20915 | MONDO:equivalentTo | Partial deletion of the long arm of chromosome X | | | -| MONDO:0865208 | partial duplication of chromosome x | GARD:20916 | MONDO:equivalentTo | Partial duplication of chromosome X | | | -| MONDO:0865209 | partial duplication of the long arm of chromosome x | GARD:20917 | MONDO:equivalentTo | Partial duplication of the long arm of chromosome X | | | -| MONDO:0865210 | uniparental disomy of chromosome x | GARD:20918 | MONDO:equivalentTo | Uniparental disomy of chromosome X | | | -| MONDO:0865211 | partial duplication of the short arm of chromosome 1 | GARD:20919 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome 1 | | | -| MONDO:0865212 | ehrlichiosis | GARD:2092 | MONDO:equivalentTo | Ehrlichiosis | | | -| MONDO:0865213 | trisomy 8p | GARD:20920 | MONDO:equivalentTo | Trisomy 8p | | | -| MONDO:0865214 | interstitial lung disease specific to childhood | GARD:20921 | MONDO:equivalentTo | Interstitial lung disease specific to childhood | | | -| MONDO:0865215 | primary interstitial lung disease specific to childhood due to alveolar structure disorder | GARD:20922 | MONDO:equivalentTo | Primary interstitial lung disease specific to childhood due to alveolar structure disorder | | | -| MONDO:0865216 | primary interstitial lung disease specific to childhood due to alveolar vascular disorder | GARD:20923 | MONDO:equivalentTo | Primary interstitial lung disease specific to childhood due to alveolar vascular disorder | | | -| MONDO:0865217 | isolated pulmonary capillaritis | GARD:20924 | MONDO:equivalentTo | Isolated pulmonary capillaritis | | | -| MONDO:0865218 | interstitial lung disease specific to infancy | GARD:20925 | MONDO:equivalentTo | Interstitial lung disease specific to infancy | | | -| MONDO:0865219 | secondary interstitial lung disease specific to childhood associated with a systemic disease | GARD:20926 | MONDO:equivalentTo | Secondary interstitial lung disease specific to childhood associated with a systemic disease | | | -| MONDO:0865220 | secondary interstitial lung disease specific to childhood associated with a connective tissue disease | GARD:20927 | MONDO:equivalentTo | Secondary interstitial lung disease specific to childhood associated with a connective tissue disease | | | -| MONDO:0865221 | secondary interstitial lung disease specific to childhood associated with a systemic vasculitis | GARD:20928 | MONDO:equivalentTo | Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis | | | -| MONDO:0865222 | secondary interstitial lung disease specific to childhood associated with a granulomatous disease | GARD:20929 | MONDO:equivalentTo | Secondary interstitial lung disease specific to childhood associated with a granulomatous disease | | | -| MONDO:0865223 | secondary interstitial lung disease specific to childhood associated with a metabolic disease | GARD:20930 | MONDO:equivalentTo | Secondary interstitial lung disease specific to childhood associated with a metabolic disease | | | -| MONDO:0865224 | interstitial lung disease specific to adulthood | GARD:20931 | MONDO:equivalentTo | Interstitial lung disease specific to adulthood | | | -| MONDO:0865225 | primary interstitial lung disease specific to adulthood | GARD:20932 | MONDO:equivalentTo | Primary interstitial lung disease specific to adulthood | | | -| MONDO:0865226 | secondary interstitial lung disease specific to adulthood associated with a systemic disease | GARD:20933 | MONDO:equivalentTo | Secondary interstitial lung disease specific to adulthood associated with a systemic disease | | | -| MONDO:0865227 | interstitial lung disease in childhood and adulthood | GARD:20934 | MONDO:equivalentTo | Interstitial lung disease in childhood and adulthood | | | -| MONDO:0865228 | primary interstitial lung disease in childhood and adulthood | GARD:20935 | MONDO:equivalentTo | Primary interstitial lung disease in childhood and adulthood | | | -| MONDO:0865229 | primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder | GARD:20936 | MONDO:equivalentTo | Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder | | | -| MONDO:0865230 | primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder | GARD:20937 | MONDO:equivalentTo | Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder | | | -| MONDO:0865231 | secondary interstitial lung disease in childhood and adulthood | GARD:20938 | MONDO:equivalentTo | Secondary interstitial lung disease in childhood and adulthood | | | -| MONDO:0865232 | secondary interstitial lung disease in childhood and adulthood associated with a systemic disease | GARD:20939 | MONDO:equivalentTo | Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease | | | -| MONDO:0865233 | secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease | GARD:20940 | MONDO:equivalentTo | Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease | | | -| MONDO:0865234 | secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis | GARD:20941 | MONDO:equivalentTo | Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis | | | -| MONDO:0865235 | drug or radiation exposure-related interstitial lung disease | GARD:20942 | MONDO:equivalentTo | Drug or radiation exposure-related interstitial lung disease | | | -| MONDO:0865236 | exposure-related interstitial lung disease | GARD:20943 | MONDO:equivalentTo | Exposure-related interstitial lung disease | | | -| MONDO:0865237 | genetic interstitial lung disease | GARD:20944 | MONDO:equivalentTo | Genetic interstitial lung disease | | | -| MONDO:0865238 | intraocular medulloepithelioma | GARD:20945 | MONDO:equivalentTo | Intraocular medulloepithelioma | | | -| MONDO:0865239 | mycophenolate mofetil embryopathy | GARD:20946 | MONDO:equivalentTo | Mycophenolate mofetil embryopathy | | | -| MONDO:0865240 | dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | GARD:20947 | MONDO:equivalentTo | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | -| MONDO:0865241 | complication in hemodialysis | GARD:20948 | MONDO:equivalentTo | Complication in hemodialysis | | | -| MONDO:0865242 | open iniencephaly | GARD:20949 | MONDO:equivalentTo | Open iniencephaly | | | -| MONDO:0865243 | closed iniencephaly | GARD:20950 | MONDO:equivalentTo | Closed iniencephaly | | | -| MONDO:0865244 | spina bifida aperta | GARD:20951 | MONDO:equivalentTo | Spina bifida aperta | | | -| MONDO:0865245 | total spina bifida aperta | GARD:20952 | MONDO:equivalentTo | Total spina bifida aperta | | | -| MONDO:0865246 | thoracolumbosacral spina bifida aperta | GARD:20953 | MONDO:equivalentTo | Thoracolumbosacral spina bifida aperta | | | -| MONDO:0865247 | lumbosacral spina bifida aperta | GARD:20954 | MONDO:equivalentTo | Lumbosacral spina bifida aperta | | | -| MONDO:0865248 | cervical spina bifida aperta | GARD:20955 | MONDO:equivalentTo | Cervical spina bifida aperta | | | -| MONDO:0865249 | cervicothoracic spina bifida aperta | GARD:20956 | MONDO:equivalentTo | Cervicothoracic spina bifida aperta | | | -| MONDO:0865250 | upper thoracic spina bifida aperta | GARD:20957 | MONDO:equivalentTo | Upper thoracic spina bifida aperta | | | -| MONDO:0865251 | spina bifida cystica | GARD:20958 | MONDO:equivalentTo | Spina bifida cystica | | | -| MONDO:0865252 | total spina bifida cystica | GARD:20959 | MONDO:equivalentTo | Total spina bifida cystica | | | -| MONDO:0865253 | acrocephalopolydactyly | GARD:2096 | MONDO:equivalentTo | Acrocephalopolydactyly | | | -| MONDO:0865254 | thoracolumbosacral spina bifida cystica | GARD:20960 | MONDO:equivalentTo | Thoracolumbosacral spina bifida cystica | | | -| MONDO:0865255 | lumbosacral spina bifida cystica | GARD:20961 | MONDO:equivalentTo | Lumbosacral spina bifida cystica | | | -| MONDO:0865256 | cervical spina bifida cystica | GARD:20962 | MONDO:equivalentTo | Cervical spina bifida cystica | | | -| MONDO:0865257 | cervicothoracic spina bifida cystica | GARD:20963 | MONDO:equivalentTo | Cervicothoracic spina bifida cystica | | | -| MONDO:0865258 | upper thoracic spina bifida cystica | GARD:20964 | MONDO:equivalentTo | Upper thoracic spina bifida cystica | | | -| MONDO:0865259 | posterior meningocele | GARD:20965 | MONDO:equivalentTo | Posterior meningocele | | | -| MONDO:0865260 | myelocystocele | GARD:20966 | MONDO:equivalentTo | Myelocystocele | | | -| MONDO:0865261 | cephalocele | GARD:20967 | MONDO:equivalentTo | Cephalocele | | | -| MONDO:0865262 | cranial meningocele | GARD:20968 | MONDO:equivalentTo | Cranial meningocele | | | -| MONDO:0865263 | occipital encephalocele | GARD:20969 | MONDO:equivalentTo | Occipital encephalocele | | | -| MONDO:0865264 | parietal encephalocele | GARD:20970 | MONDO:equivalentTo | Parietal encephalocele | | | -| MONDO:0865265 | basal encephalocele | GARD:20971 | MONDO:equivalentTo | Basal encephalocele | | | -| MONDO:0865266 | lipoma associated with neurospinal dysraphism | GARD:20972 | MONDO:equivalentTo | Lipoma associated with neurospinal dysraphism | | | -| MONDO:0865267 | leptomyelolipoma | GARD:20973 | MONDO:equivalentTo | Leptomyelolipoma | | | -| MONDO:0865268 | malformation of the neurenteric canal, spinal cord and column | GARD:20974 | MONDO:equivalentTo | Malformation of the neurenteric canal, spinal cord and column | | | -| MONDO:0865269 | neurenteric cyst | GARD:20975 | MONDO:equivalentTo | Neurenteric cyst | | | -| MONDO:0865270 | isolated amyelia | GARD:20976 | MONDO:equivalentTo | Isolated amyelia | | | -| MONDO:0865271 | isolated megalencephaly | GARD:20977 | MONDO:equivalentTo | Isolated megalencephaly | | | -| MONDO:0865272 | midline cerebral malformation | GARD:20978 | MONDO:equivalentTo | Midline cerebral malformation | | | -| MONDO:0865273 | isolated arhinencephaly | GARD:20979 | MONDO:equivalentTo | Isolated arhinencephaly | | | -| MONDO:0865274 | microcephaly-cardiac defect-lung malsegmentation syndrome | GARD:2098 | MONDO:equivalentTo | Microcephaly-cardiac defect-lung malsegmentation syndrome | | | -| MONDO:0865275 | unilateral polymicrogyria | GARD:20980 | MONDO:equivalentTo | Unilateral polymicrogyria | | | -| MONDO:0865276 | unilateral focal polymicrogyria | GARD:20981 | MONDO:equivalentTo | Unilateral focal polymicrogyria | | | -| MONDO:0865277 | cerebral cortical dysplasia | GARD:20982 | MONDO:equivalentTo | Cerebral cortical dysplasia | | | -| MONDO:0865278 | isolated focal cortical dysplasia type i | GARD:20983 | MONDO:equivalentTo | Isolated focal cortical dysplasia type I | | | -| MONDO:0865279 | isolated focal cortical dysplasia type ia | GARD:20984 | MONDO:equivalentTo | Isolated focal cortical dysplasia type Ia | | | -| MONDO:0865280 | isolated focal cortical dysplasia type ib | GARD:20985 | MONDO:equivalentTo | Isolated focal cortical dysplasia type Ib | | | -| MONDO:0865281 | isolated focal cortical dysplasia type ic | GARD:20986 | MONDO:equivalentTo | Isolated focal cortical dysplasia type Ic | | | -| MONDO:0865282 | encephaloclastic disorder | GARD:20987 | MONDO:equivalentTo | Encephaloclastic disorder | | | -| MONDO:0865283 | central nervous system cystic malformation | GARD:20988 | MONDO:equivalentTo | Central nervous system cystic malformation | | | -| MONDO:0865284 | glioependymal/ependymal cyst | GARD:20989 | MONDO:equivalentTo | Glioependymal/ependymal cyst | | | -| MONDO:0865285 | isolated cerebellar vermis agenesis | GARD:20990 | MONDO:equivalentTo | Isolated cerebellar vermis agenesis | | | -| MONDO:0865286 | isolated total cerebellar vermis agenesis | GARD:20991 | MONDO:equivalentTo | Isolated total cerebellar vermis agenesis | | | -| MONDO:0865287 | isolated partial cerebellar vermis agenesis | GARD:20992 | MONDO:equivalentTo | Isolated partial cerebellar vermis agenesis | | | -| MONDO:0865288 | isolated dandy-walker malformation with hydrocephalus | GARD:20993 | MONDO:equivalentTo | Isolated Dandy-Walker malformation with hydrocephalus | | | -| MONDO:0865289 | isolated dandy-walker malformation without hydrocephalus | GARD:20994 | MONDO:equivalentTo | Isolated Dandy-Walker malformation without hydrocephalus | | | -| MONDO:0865290 | isolated unilateral hemispheric cerebellar hypoplasia | GARD:20995 | MONDO:equivalentTo | Isolated unilateral hemispheric cerebellar hypoplasia | | | -| MONDO:0865291 | isolated bilateral hemispheric cerebellar hypoplasia | GARD:20996 | MONDO:equivalentTo | Isolated bilateral hemispheric cerebellar hypoplasia | | | -| MONDO:0865292 | global cerebellar malformation | GARD:20997 | MONDO:equivalentTo | Global cerebellar malformation | | | -| MONDO:0865293 | congenital communicating hydrocephalus | GARD:20998 | MONDO:equivalentTo | Congenital communicating hydrocephalus | | | -| MONDO:0865294 | syndrome with a cerebellar malformation as a major feature | GARD:20999 | MONDO:equivalentTo | Syndrome with a cerebellar malformation as a major feature | | | -| MONDO:0865295 | syndrome with microcephaly as a major feature | GARD:21000 | MONDO:equivalentTo | Syndrome with microcephaly as a major feature | | | -| MONDO:0865296 | other syndrome with a central nervous system malformation as a major feature | GARD:21001 | MONDO:equivalentTo | Other syndrome with a central nervous system malformation as a major feature | | | -| MONDO:0865297 | syndrome with a dandy-walker malformation as a major feature | GARD:21002 | MONDO:equivalentTo | Syndrome with a Dandy-Walker malformation as a major feature | | | -| MONDO:0865298 | genetic non-syndromic central nervous system malformation | GARD:21003 | MONDO:equivalentTo | Genetic non-syndromic central nervous system malformation | | | -| MONDO:0865299 | genetic cerebral malformation | GARD:21004 | MONDO:equivalentTo | Genetic cerebral malformation | | | -| MONDO:0865300 | genetic posterior fossa malformation | GARD:21005 | MONDO:equivalentTo | Genetic posterior fossa malformation | | | -| MONDO:0865301 | genetic cerebellar malformation | GARD:21006 | MONDO:equivalentTo | Genetic cerebellar malformation | | | -| MONDO:0865302 | genetic syndrome with a central nervous system malformation as a major feature | GARD:21007 | MONDO:equivalentTo | Genetic syndrome with a central nervous system malformation as a major feature | | | -| MONDO:0865303 | genetic syndrome with a cerebellar malformation as a major feature | GARD:21008 | MONDO:equivalentTo | Genetic syndrome with a cerebellar malformation as a major feature | | | -| MONDO:0865304 | genetic syndrome with a dandy-walker malformation as a major feature | GARD:21009 | MONDO:equivalentTo | Genetic syndrome with a Dandy-Walker malformation as a major feature | | | -| MONDO:0865305 | genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature | GARD:21010 | MONDO:equivalentTo | Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature | | | -| MONDO:0865306 | genetic soft tissue tumor | GARD:21011 | MONDO:equivalentTo | Genetic soft tissue tumor | | | -| MONDO:0865307 | genetic digestive tract tumor | GARD:21012 | MONDO:equivalentTo | Genetic digestive tract tumor | | | -| MONDO:0865308 | genetic cardiac tumor | GARD:21013 | MONDO:equivalentTo | Genetic cardiac tumor | | | -| MONDO:0865309 | genetic urogenital tumor | GARD:21014 | MONDO:equivalentTo | Genetic urogenital tumor | | | -| MONDO:0865310 | genetic neuroendocrine tumor | GARD:21015 | MONDO:equivalentTo | Genetic neuroendocrine tumor | | | -| MONDO:0865311 | genetic cardiac anomaly | GARD:21016 | MONDO:equivalentTo | Genetic cardiac anomaly | | | -| MONDO:0865312 | hereditary attr amyloidosis | GARD:21017 | MONDO:equivalentTo | Hereditary ATTR amyloidosis | | | -| MONDO:0865313 | rare genetic systemic or rheumatologic disease | GARD:21018 | MONDO:equivalentTo | Rare genetic systemic or rheumatologic disease | | | -| MONDO:0865314 | rare hemorrhagic disorder due to a constitutional thrombocytopenia | GARD:21019 | MONDO:equivalentTo | Rare hemorrhagic disorder due to a constitutional thrombocytopenia | | | -| MONDO:0865315 | x-linked emery-dreifuss muscular dystrophy | GARD:2102 | MONDO:equivalentTo | X-linked Emery-Dreifuss muscular dystrophy | | | -| MONDO:0865316 | rare hemorrhagic disorder due to a qualitative platelet defect | GARD:21020 | MONDO:equivalentTo | Rare hemorrhagic disorder due to a qualitative platelet defect | | | -| MONDO:0865317 | genetic infertility | GARD:21021 | MONDO:equivalentTo | Genetic infertility | | | -| MONDO:0865318 | alpha-thalassemia and related disorders | GARD:21022 | MONDO:equivalentTo | Alpha-thalassemia and related disorders | | | -| MONDO:0865319 | beta-thalassemia and related diseases | GARD:21023 | MONDO:equivalentTo | Beta-thalassemia and related diseases | | | -| MONDO:0865320 | sickle cell disease and related diseases | GARD:21024 | MONDO:equivalentTo | Sickle cell disease and related diseases | | | -| MONDO:0865321 | idiopathic pulmonary arterial hypertension | GARD:21025 | MONDO:equivalentTo | Idiopathic pulmonary arterial hypertension | | | -| MONDO:0865322 | drug- or toxin-induced pulmonary arterial hypertension | GARD:21026 | MONDO:equivalentTo | Drug- or toxin-induced pulmonary arterial hypertension | | | -| MONDO:0865323 | pulmonary arterial hypertension associated with another disease | GARD:21027 | MONDO:equivalentTo | Pulmonary arterial hypertension associated with another disease | | | -| MONDO:0865324 | pulmonary arterial hypertension associated with connective tissue disease | GARD:21028 | MONDO:equivalentTo | Pulmonary arterial hypertension associated with connective tissue disease | | | -| MONDO:0865325 | pulmonary arterial hypertension associated with congenital heart disease | GARD:21029 | MONDO:equivalentTo | Pulmonary arterial hypertension associated with congenital heart disease | | | -| MONDO:0865326 | pulmonary arterial hypertension associated with hiv infection | GARD:21030 | MONDO:equivalentTo | Pulmonary arterial hypertension associated with HIV infection | | | -| MONDO:0865327 | pulmonary arterial hypertension associated with portal hypertension | GARD:21031 | MONDO:equivalentTo | Pulmonary arterial hypertension associated with portal hypertension | | | -| MONDO:0865328 | pulmonary arterial hypertension associated with schistosomiasis | GARD:21032 | MONDO:equivalentTo | Pulmonary arterial hypertension associated with schistosomiasis | | | -| MONDO:0865329 | pulmonary arterial hypertension associated with chronic hemolytic anemia | GARD:21033 | MONDO:equivalentTo | Pulmonary arterial hypertension associated with chronic hemolytic anemia | | | -| MONDO:0865330 | pulmonary hypertension owing to lung disease and/or hypoxia | GARD:21034 | MONDO:equivalentTo | Pulmonary hypertension owing to lung disease and/or hypoxia | | | -| MONDO:0865331 | pulmonary hypertension with unclear multifactorial mechanism | GARD:21035 | MONDO:equivalentTo | Pulmonary hypertension with unclear multifactorial mechanism | | | -| MONDO:0865332 | syndrome with pulmonary hypertension as a major feature | GARD:21036 | MONDO:equivalentTo | Syndrome with pulmonary hypertension as a major feature | | | -| MONDO:0865333 | hemolytic disease due to fetomaternal alloimmunization | GARD:21037 | MONDO:equivalentTo | Hemolytic disease due to fetomaternal alloimmunization | | | -| MONDO:0865334 | hemolytic disease of the newborn with kell alloimmunization | GARD:21038 | MONDO:equivalentTo | Hemolytic disease of the newborn with Kell alloimmunization | | | -| MONDO:0865335 | genetic neurodegenerative disease with dementia | GARD:21039 | MONDO:equivalentTo | Genetic neurodegenerative disease with dementia | | | -| MONDO:0865336 | congenital lobar emphysema | GARD:2104 | MONDO:equivalentTo | Congenital lobar emphysema | | | -| MONDO:0865337 | genetic frontotemporal degeneration with dementia | GARD:21040 | MONDO:equivalentTo | Genetic frontotemporal degeneration with dementia | | | -| MONDO:0865338 | bile acid coa ligase deficiency and defective amidation | GARD:21041 | MONDO:equivalentTo | Bile acid CoA ligase deficiency and defective amidation | | | -| MONDO:0865339 | rare tumor of salivary glands | GARD:21042 | MONDO:equivalentTo | Rare tumor of salivary glands | | | -| MONDO:0865340 | malignant epithelial tumor of salivary glands | GARD:21043 | MONDO:equivalentTo | Malignant epithelial tumor of salivary glands | | | -| MONDO:0865341 | multiple endocrine neoplasia | GARD:21044 | MONDO:equivalentTo | Multiple endocrine neoplasia | | | -| MONDO:0865342 | idiopathic recurrent stupor | GARD:21045 | MONDO:equivalentTo | Idiopathic recurrent stupor | | | -| MONDO:0865343 | mucopolysaccharidosis type 6, rapidly progressing | GARD:21046 | MONDO:equivalentTo | Mucopolysaccharidosis type 6, rapidly progressing | | | -| MONDO:0865344 | mucopolysaccharidosis type 6, slowly progressing | GARD:21047 | MONDO:equivalentTo | Mucopolysaccharidosis type 6, slowly progressing | | | -| MONDO:0865345 | machado-joseph disease type 1 | GARD:21048 | MONDO:equivalentTo | Machado-Joseph disease type 1 | | | -| MONDO:0865346 | machado-joseph disease type 2 | GARD:21049 | MONDO:equivalentTo | Machado-Joseph disease type 2 | | | -| MONDO:0865347 | machado-joseph disease type 3 | GARD:21050 | MONDO:equivalentTo | Machado-Joseph disease type 3 | | | -| MONDO:0865348 | hemihyperplasia-multiple lipomatosis syndrome | GARD:21051 | MONDO:equivalentTo | Hemihyperplasia-multiple lipomatosis syndrome | | | -| MONDO:0865349 | 10q22.3q23.3 microduplication syndrome | GARD:21052 | MONDO:equivalentTo | 10q22.3q23.3 microduplication syndrome | | | -| MONDO:0865350 | familial hyperinsulinism | GARD:21053 | MONDO:equivalentTo | Familial hyperinsulinism | | | -| MONDO:0865351 | hyperinsulinism due to ucp2 deficiency | GARD:21054 | MONDO:equivalentTo | Hyperinsulinism due to UCP2 deficiency | | | -| MONDO:0865352 | diazoxide-resistant hyperinsulinism | GARD:21055 | MONDO:equivalentTo | Diazoxide-resistant hyperinsulinism | | | -| MONDO:0865353 | non-insulinoma pancreatogenous hypoglycemia syndrome | GARD:21056 | MONDO:equivalentTo | Non-insulinoma pancreatogenous hypoglycemia syndrome | | | -| MONDO:0865354 | symptomatic form of coffin-lowry syndrome in female carriers | GARD:21057 | MONDO:equivalentTo | Symptomatic form of Coffin-Lowry syndrome in female carriers | | | -| MONDO:0865355 | spasmus nutans | GARD:21058 | MONDO:equivalentTo | Spasmus nutans | | | -| MONDO:0865356 | acute endophthalmitis | GARD:21059 | MONDO:equivalentTo | Acute endophthalmitis | | | -| MONDO:0865357 | chronic endophthalmitis | GARD:21060 | MONDO:equivalentTo | Chronic endophthalmitis | | | -| MONDO:0865358 | toxic maculopathy due to antimalarial drugs | GARD:21061 | MONDO:equivalentTo | Toxic maculopathy due to antimalarial drugs | | | -| MONDO:0865359 | primary oculocerebral lymphoma | GARD:21062 | MONDO:equivalentTo | Primary oculocerebral lymphoma | | | -| MONDO:0865360 | primary intraocular lymphoma | GARD:21063 | MONDO:equivalentTo | Primary intraocular lymphoma | | | -| MONDO:0865361 | primary organ-specific lymphoma | GARD:21064 | MONDO:equivalentTo | Primary organ-specific lymphoma | | | -| MONDO:0865362 | intermediate uveitis | GARD:21065 | MONDO:equivalentTo | Intermediate uveitis | | | -| MONDO:0865363 | infectious posterior uveitis | GARD:21066 | MONDO:equivalentTo | Infectious posterior uveitis | | | -| MONDO:0865364 | infectious anterior uveitis | GARD:21067 | MONDO:equivalentTo | Infectious anterior uveitis | | | -| MONDO:0865365 | infectious panuveitis | GARD:21068 | MONDO:equivalentTo | Infectious panuveitis | | | -| MONDO:0865366 | paraneoplastic uveitis | GARD:21069 | MONDO:equivalentTo | Paraneoplastic uveitis | | | -| MONDO:0865367 | calciphylaxis cutis | GARD:21070 | MONDO:equivalentTo | Calciphylaxis cutis | | | -| MONDO:0865368 | visceral calciphylaxis | GARD:21071 | MONDO:equivalentTo | Visceral calciphylaxis | | | -| MONDO:0865369 | laryngotracheoesophageal cleft type 0 | GARD:21072 | MONDO:equivalentTo | Laryngotracheoesophageal cleft type 0 | | | -| MONDO:0865370 | pelizaeus-merzbacher disease, classic form | GARD:21073 | MONDO:equivalentTo | Pelizaeus-Merzbacher disease, classic form | | | -| MONDO:0865371 | pelizaeus-merzbacher disease, transitional form | GARD:21074 | MONDO:equivalentTo | Pelizaeus-Merzbacher disease, transitional form | | | -| MONDO:0865372 | pelizaeus-merzbacher disease in female carriers | GARD:21075 | MONDO:equivalentTo | Pelizaeus-Merzbacher disease in female carriers | | | -| MONDO:0865373 | autoimmune pancreatitis type 1 | GARD:21076 | MONDO:equivalentTo | Autoimmune pancreatitis type 1 | | | -| MONDO:0865374 | autoimmune pancreatitis type 2 | GARD:21077 | MONDO:equivalentTo | Autoimmune pancreatitis type 2 | | | -| MONDO:0865375 | distal monosomy 12p | GARD:21078 | MONDO:equivalentTo | Distal monosomy 12p | | | -| MONDO:0865376 | rare systemic or rheumatological disease of childhood | GARD:21079 | MONDO:equivalentTo | Rare systemic or rheumatological disease of childhood | | | -| MONDO:0865377 | encephalocraniocutaneous lipomatosis | GARD:2108 | MONDO:equivalentTo | Encephalocraniocutaneous lipomatosis | | | -| MONDO:0865378 | autosomal semi-dominant severe lipodystrophic laminopathy | GARD:21080 | MONDO:equivalentTo | Autosomal semi-dominant severe lipodystrophic laminopathy | | | -| MONDO:0865379 | rare pediatric vasculitis | GARD:21081 | MONDO:equivalentTo | Rare pediatric vasculitis | | | -| MONDO:0865380 | rare pediatric systemic disease | GARD:21082 | MONDO:equivalentTo | Rare pediatric systemic disease | | | -| MONDO:0865381 | recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | GARD:21083 | MONDO:equivalentTo | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | | | -| MONDO:0865382 | familial alzheimer-like prion disease | GARD:21084 | MONDO:equivalentTo | Familial Alzheimer-like prion disease | | | -| MONDO:0865383 | inherited human prion disease | GARD:21085 | MONDO:equivalentTo | Inherited human prion disease | | | -| MONDO:0865384 | familial omphalocele syndrome with facial dysmorphism | GARD:21086 | MONDO:equivalentTo | Familial omphalocele syndrome with facial dysmorphism | | | -| MONDO:0865385 | generalized essential telangiectasia | GARD:21087 | MONDO:equivalentTo | Generalized essential telangiectasia | | | -| MONDO:0865386 | bullous diffuse cutaneous mastocytosis | GARD:21088 | MONDO:equivalentTo | Bullous diffuse cutaneous mastocytosis | | | -| MONDO:0865387 | pseudoxanthomatous diffuse cutaneous mastocytosis | GARD:21089 | MONDO:equivalentTo | Pseudoxanthomatous diffuse cutaneous mastocytosis | | | -| MONDO:0865388 | intralobar congenital pulmonary sequestration | GARD:21090 | MONDO:equivalentTo | Intralobar congenital pulmonary sequestration | | | -| MONDO:0865389 | extralobar congenital pulmonary sequestration | GARD:21091 | MONDO:equivalentTo | Extralobar congenital pulmonary sequestration | | | -| MONDO:0865390 | communicating congenital bronchopulmonary-foregut malformation | GARD:21092 | MONDO:equivalentTo | Communicating congenital bronchopulmonary-foregut malformation | | | -| MONDO:0865391 | congenital pulmonary airway malformation type 0 | GARD:21093 | MONDO:equivalentTo | Congenital pulmonary airway malformation type 0 | | | -| MONDO:0865392 | congenital pulmonary airway malformation type 1 | GARD:21094 | MONDO:equivalentTo | Congenital pulmonary airway malformation type 1 | | | -| MONDO:0865393 | congenital pulmonary airway malformation type 2 | GARD:21095 | MONDO:equivalentTo | Congenital pulmonary airway malformation type 2 | | | -| MONDO:0865394 | congenital pulmonary airway malformation type 3 | GARD:21096 | MONDO:equivalentTo | Congenital pulmonary airway malformation type 3 | | | -| MONDO:0865395 | congenital pulmonary airway malformation type 4 | GARD:21097 | MONDO:equivalentTo | Congenital pulmonary airway malformation type 4 | | | -| MONDO:0865396 | idiopathic anterior uveitis | GARD:21098 | MONDO:equivalentTo | Idiopathic anterior uveitis | | | -| MONDO:0865397 | idiopathic posterior uveitis | GARD:21099 | MONDO:equivalentTo | Idiopathic posterior uveitis | | | -| MONDO:0865398 | idiopathic panuveitis | GARD:21100 | MONDO:equivalentTo | Idiopathic panuveitis | | | -| MONDO:0865399 | systemic diseases with anterior uveitis | GARD:21101 | MONDO:equivalentTo | Systemic diseases with anterior uveitis | | | -| MONDO:0865400 | systemic diseases with posterior uveitis | GARD:21102 | MONDO:equivalentTo | Systemic diseases with posterior uveitis | | | -| MONDO:0865401 | systemic diseases with panuveitis | GARD:21103 | MONDO:equivalentTo | Systemic diseases with panuveitis | | | -| MONDO:0865402 | inherited non-syndromic ichthyosis | GARD:21104 | MONDO:equivalentTo | Inherited non-syndromic ichthyosis | | | -| MONDO:0865403 | inherited ichthyosis syndromic form | GARD:21105 | MONDO:equivalentTo | Inherited ichthyosis syndromic form | | | -| MONDO:0865404 | autosomal recessive congenital ichthyosis | GARD:21106 | MONDO:equivalentTo | Autosomal recessive congenital ichthyosis | | | -| MONDO:0865405 | keratinopathic ichthyosis | GARD:21107 | MONDO:equivalentTo | Keratinopathic ichthyosis | | | -| MONDO:0865406 | acral self-healing collodion baby | GARD:21108 | MONDO:equivalentTo | Acral self-healing collodion baby | | | -| MONDO:0865407 | x-linked ichthyosis syndrome | GARD:21109 | MONDO:equivalentTo | X-linked ichthyosis syndrome | | | -| MONDO:0865408 | autosomal ichthyosis syndrome | GARD:21110 | MONDO:equivalentTo | Autosomal ichthyosis syndrome | | | -| MONDO:0865409 | autosomal ichthyosis syndrome with prominent hair abnormalities | GARD:21111 | MONDO:equivalentTo | Autosomal ichthyosis syndrome with prominent hair abnormalities | | | -| MONDO:0865410 | autosomal ichthyosis syndrome with prominent neurologic signs | GARD:21112 | MONDO:equivalentTo | Autosomal ichthyosis syndrome with prominent neurologic signs | | | -| MONDO:0865411 | autosomal ichthyosis syndrome with fatal disease course | GARD:21113 | MONDO:equivalentTo | Autosomal ichthyosis syndrome with fatal disease course | | | -| MONDO:0865412 | autosomal ichthyosis syndrome with other associated signs | GARD:21114 | MONDO:equivalentTo | Autosomal ichthyosis syndrome with other associated signs | | | -| MONDO:0865413 | partial deletion of chromosome 12 | GARD:21115 | MONDO:equivalentTo | Partial deletion of chromosome 12 | | | -| MONDO:0865414 | autoimmune polyendocrinopathy | GARD:21116 | MONDO:equivalentTo | Autoimmune polyendocrinopathy | | | -| MONDO:0865415 | xp22.13p22.2 duplication syndrome | GARD:21117 | MONDO:equivalentTo | Xp22.13p22.2 duplication syndrome | | | -| MONDO:0865416 | fetal lung interstitial tumor | GARD:21118 | MONDO:equivalentTo | Fetal lung interstitial tumor | | | -| MONDO:0865417 | familial intrahepatic cholestasis | GARD:21119 | MONDO:equivalentTo | Familial intrahepatic cholestasis | | | -| MONDO:0865418 | well-differentiated fetal adenocarcinoma of the lung | GARD:21120 | MONDO:equivalentTo | Well-differentiated fetal adenocarcinoma of the lung | | | -| MONDO:0865419 | acute annular outer retinopathy | GARD:21121 | MONDO:equivalentTo | Acute annular outer retinopathy | | | -| MONDO:0865420 | qualitative or quantitative defects of troponin | GARD:21122 | MONDO:equivalentTo | Qualitative or quantitative defects of troponin | | | -| MONDO:0865421 | qualitative or quantitative defects of tropomyosin | GARD:21123 | MONDO:equivalentTo | Qualitative or quantitative defects of tropomyosin | | | -| MONDO:0865422 | ocular albinism | GARD:21124 | MONDO:equivalentTo | Ocular albinism | | | -| MONDO:0865423 | syndromic oculocutaneous albinism | GARD:21125 | MONDO:equivalentTo | Syndromic oculocutaneous albinism | | | -| MONDO:0865424 | disorder of phenylalanine metabolism | GARD:21126 | MONDO:equivalentTo | Disorder of phenylalanine metabolism | | | -| MONDO:0865425 | disorder of tyrosine metabolism | GARD:21127 | MONDO:equivalentTo | Disorder of tyrosine metabolism | | | -| MONDO:0865426 | neonatal marfan syndrome | GARD:21128 | MONDO:equivalentTo | Neonatal Marfan syndrome | | | -| MONDO:0865427 | marfan syndrome and marfan-related disorders | GARD:21129 | MONDO:equivalentTo | Marfan syndrome and Marfan-related disorders | | | -| MONDO:0865428 | bonnemann-meinecke-reich syndrome | GARD:2113 | MONDO:equivalentTo | Bonnemann-Meinecke-Reich syndrome | | | -| MONDO:0865429 | rare disease with thoracic aortic aneurysm and aortic dissection | GARD:21130 | MONDO:equivalentTo | Rare disease with thoracic aortic aneurysm and aortic dissection | | | -| MONDO:0865430 | disorder of folate metabolism and transport | GARD:21131 | MONDO:equivalentTo | Disorder of folate metabolism and transport | | | -| MONDO:0865431 | disorders of vitamin d metabolism | GARD:21132 | MONDO:equivalentTo | Disorders of vitamin D metabolism | | | -| MONDO:0865432 | hypocalcemic rickets | GARD:21133 | MONDO:equivalentTo | Hypocalcemic rickets | | | -| MONDO:0865433 | early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation | GARD:21134 | MONDO:equivalentTo | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | | | -| MONDO:0865434 | infective dermatitis associated with htlv-1 | GARD:21135 | MONDO:equivalentTo | Infective dermatitis associated with HTLV-1 | | | -| MONDO:0865435 | primary non-gestational choriocarcinoma of ovary | GARD:21136 | MONDO:equivalentTo | Primary non-gestational choriocarcinoma of ovary | | | -| MONDO:0865436 | non-central nervous system-localized embryonal carcinoma | GARD:21137 | MONDO:equivalentTo | Non-central nervous system-localized embryonal carcinoma | | | -| MONDO:0865437 | malignancy diagnosed during pregnancy | GARD:21138 | MONDO:equivalentTo | Malignancy diagnosed during pregnancy | | | -| MONDO:0865438 | pyoderma gangrenosum-acne-suppurative hidradenitis syndrome | GARD:21139 | MONDO:equivalentTo | Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome | | | -| MONDO:0865439 | 4h leukodystrophy | GARD:21140 | MONDO:equivalentTo | 4H leukodystrophy | | | -| MONDO:0865440 | 12q15q21.1 microdeletion syndrome | GARD:21141 | MONDO:equivalentTo | 12q15q21.1 microdeletion syndrome | | | -| MONDO:0865441 | microtriplication 11q24.1 | GARD:21142 | MONDO:equivalentTo | Microtriplication 11q24.1 | | | -| MONDO:0865442 | inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency | GARD:21143 | MONDO:equivalentTo | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | | | -| MONDO:0865443 | juvenile nasopharyngeal angiofibroma | GARD:21144 | MONDO:equivalentTo | Juvenile nasopharyngeal angiofibroma | | | -| MONDO:0865444 | rare virus associated tumor | GARD:21145 | MONDO:equivalentTo | Rare virus associated tumor | | | -| MONDO:0865445 | epstein-barr virus-related tumor | GARD:21146 | MONDO:equivalentTo | Epstein-Barr Virus-related tumor | | | -| MONDO:0865446 | epstein-barr virus-associated malignant lymphoproliferative disorder | GARD:21147 | MONDO:equivalentTo | Epstein-Barr virus-associated malignant lymphoproliferative disorder | | | -| MONDO:0865447 | epstein-barr virus-associated carcinoma | GARD:21148 | MONDO:equivalentTo | Epstein-Barr Virus-associated carcinoma | | | -| MONDO:0865448 | epstein-barr virus-associated mesenchymal tumor | GARD:21149 | MONDO:equivalentTo | Epstein-Barr Virus-associated mesenchymal tumor | | | -| MONDO:0865449 | epstein-barr virus-positive diffuse large b-cell lymphoma of the elderly | GARD:21150 | MONDO:equivalentTo | Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly | | | -| MONDO:0865450 | lymphoepithelial-like carcinoma | GARD:21151 | MONDO:equivalentTo | Lymphoepithelial-like carcinoma | | | -| MONDO:0865451 | myopericytoma | GARD:21152 | MONDO:equivalentTo | Myopericytoma | | | -| MONDO:0865452 | late-onset primary lymphedema without systemic or visceral involvement | GARD:21153 | MONDO:equivalentTo | Late-onset primary lymphedema without systemic or visceral involvement | | | -| MONDO:0865453 | disorder of tryptophan metabolism | GARD:21154 | MONDO:equivalentTo | Disorder of tryptophan metabolism | | | -| MONDO:0865454 | disorder of lysine and hydroxylysine metabolism | GARD:21155 | MONDO:equivalentTo | Disorder of lysine and hydroxylysine metabolism | | | -| MONDO:0865455 | disorder of glutamine metabolism | GARD:21156 | MONDO:equivalentTo | Disorder of glutamine metabolism | | | -| MONDO:0865456 | disorder of proline metabolism | GARD:21157 | MONDO:equivalentTo | Disorder of proline metabolism | | | -| MONDO:0865457 | disorder of ornithine metabolism | GARD:21158 | MONDO:equivalentTo | Disorder of ornithine metabolism | | | -| MONDO:0865458 | transient hyperammonemia of the newborn | GARD:21159 | MONDO:equivalentTo | Transient hyperammonemia of the newborn | | | -| MONDO:0865459 | systemic disease with skin involvement | GARD:21160 | MONDO:equivalentTo | Systemic disease with skin involvement | | | -| MONDO:0865460 | autoinflammatory syndrome with immune deficiency | GARD:21161 | MONDO:equivalentTo | Autoinflammatory syndrome with immune deficiency | | | -| MONDO:0865461 | autoinflammatory syndrome with skin involvement | GARD:21162 | MONDO:equivalentTo | Autoinflammatory syndrome with skin involvement | | | -| MONDO:0865462 | rare head and neck tumor | GARD:21163 | MONDO:equivalentTo | Rare head and neck tumor | | | -| MONDO:0865463 | acute generalized exanthematous pustulosis | GARD:21164 | MONDO:equivalentTo | Acute generalized exanthematous pustulosis | | | -| MONDO:0865464 | pleomorphic rhabdomyosarcoma | GARD:21165 | MONDO:equivalentTo | Pleomorphic rhabdomyosarcoma | | | -| MONDO:0865465 | tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria | GARD:21166 | MONDO:equivalentTo | Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria | | | -| MONDO:0865466 | grayson-wilbrandt corneal dystrophy | GARD:21167 | MONDO:equivalentTo | Grayson-Wilbrandt corneal dystrophy | | | -| MONDO:0865467 | pre-descemet corneal dystrophy | GARD:21168 | MONDO:equivalentTo | Pre-Descemet corneal dystrophy | | | -| MONDO:0865468 | ketamine-induced biliary dilatation | GARD:21169 | MONDO:equivalentTo | Ketamine-induced biliary dilatation | | | -| MONDO:0865469 | fixed drug eruption | GARD:21170 | MONDO:equivalentTo | Fixed drug eruption | | | -| MONDO:0865470 | toxic dermatosis | GARD:21171 | MONDO:equivalentTo | Toxic dermatosis | | | -| MONDO:0865471 | constitutional dyserythropoietic anemia | GARD:21172 | MONDO:equivalentTo | Constitutional dyserythropoietic anemia | | | -| MONDO:0865472 | 1p21.3 microdeletion syndrome | GARD:21173 | MONDO:equivalentTo | 1p21.3 microdeletion syndrome | | | -| MONDO:0865473 | hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome | GARD:21174 | MONDO:equivalentTo | Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome | | | -| MONDO:0865474 | syndactyly-nystagmus syndrome due to 2q31.1 microduplication | GARD:21175 | MONDO:equivalentTo | Syndactyly-nystagmus syndrome due to 2q31.1 microduplication | | | -| MONDO:0865475 | rare nevus | GARD:21176 | MONDO:equivalentTo | Rare nevus | | | -| MONDO:0865476 | multiple pterygium syndrome | GARD:21177 | MONDO:equivalentTo | Multiple pterygium syndrome | | | -| MONDO:0865477 | chronic intestinal failure | GARD:21178 | MONDO:equivalentTo | Chronic intestinal failure | | | -| MONDO:0865478 | amelia | GARD:21179 | MONDO:equivalentTo | Amelia | | | -| MONDO:0865479 | intercalary limb defects | GARD:21180 | MONDO:equivalentTo | Intercalary limb defects | | | -| MONDO:0865480 | congenital deformities of limbs | GARD:21181 | MONDO:equivalentTo | Congenital deformities of limbs | | | -| MONDO:0865481 | congenital deformities of fingers | GARD:21182 | MONDO:equivalentTo | Congenital deformities of fingers | | | -| MONDO:0865482 | joint formation defects | GARD:21183 | MONDO:equivalentTo | Joint formation defects | | | -| MONDO:0865483 | congenital joint dislocations | GARD:21184 | MONDO:equivalentTo | Congenital joint dislocations | | | -| MONDO:0865484 | non syndromic limb overgrowth | GARD:21185 | MONDO:equivalentTo | Non syndromic limb overgrowth | | | -| MONDO:0865485 | syndrome with limb reduction defects | GARD:21186 | MONDO:equivalentTo | Syndrome with limb reduction defects | | | -| MONDO:0865486 | dysostosis with combined reduction defects of upper and lower limbs | GARD:21187 | MONDO:equivalentTo | Dysostosis with combined reduction defects of upper and lower limbs | | | -| MONDO:0865487 | syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy | GARD:21188 | MONDO:equivalentTo | Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy | | | -| MONDO:0865488 | popliteal pterygium syndrome | GARD:21189 | MONDO:equivalentTo | Popliteal pterygium syndrome | | | -| MONDO:0865489 | amelia of upper limb | GARD:21190 | MONDO:equivalentTo | Amelia of upper limb | | | -| MONDO:0865490 | amelia of lower limb | GARD:21191 | MONDO:equivalentTo | Amelia of lower limb | | | -| MONDO:0865491 | humeral agenesis/hypoplasia | GARD:21192 | MONDO:equivalentTo | Humeral agenesis/hypoplasia | | | -| MONDO:0865492 | congenital absence of thigh and lower leg with foot present | GARD:21193 | MONDO:equivalentTo | Congenital absence of thigh and lower leg with foot present | | | -| MONDO:0865493 | congenital absence of both forearm and hand | GARD:21194 | MONDO:equivalentTo | Congenital absence of both forearm and hand | | | -| MONDO:0865494 | congenital absence of both lower leg and foot | GARD:21195 | MONDO:equivalentTo | Congenital absence of both lower leg and foot | | | -| MONDO:0865495 | acheiria | GARD:21196 | MONDO:equivalentTo | Acheiria | | | -| MONDO:0865496 | apodia | GARD:21197 | MONDO:equivalentTo | Apodia | | | -| MONDO:0865497 | congenital hypoplasia of thumb | GARD:21198 | MONDO:equivalentTo | Congenital hypoplasia of thumb | | | -| MONDO:0865498 | hyperphalangy | GARD:21199 | MONDO:equivalentTo | Hyperphalangy | | | -| MONDO:0865499 | oculodental syndrome, rutherfurd type | GARD:212 | MONDO:equivalentTo | Oculodental syndrome, Rutherfurd type | | | -| MONDO:0865500 | central polydactyly | GARD:21200 | MONDO:equivalentTo | Central polydactyly | | | -| MONDO:0865501 | syndactyly type 6 | GARD:21201 | MONDO:equivalentTo | Syndactyly type 6 | | | -| MONDO:0865502 | familial isolated clinodactyly of fingers | GARD:21202 | MONDO:equivalentTo | Familial isolated clinodactyly of fingers | | | -| MONDO:0865503 | congenital pseudoarthrosis of the tibia | GARD:21203 | MONDO:equivalentTo | Congenital pseudoarthrosis of the tibia | | | -| MONDO:0865504 | congenital pseudoarthrosis of the femur | GARD:21204 | MONDO:equivalentTo | Congenital pseudoarthrosis of the femur | | | -| MONDO:0865505 | congenital pseudoarthrosis of the fibula | GARD:21205 | MONDO:equivalentTo | Congenital pseudoarthrosis of the fibula | | | -| MONDO:0865506 | congenital pseudoarthrosis of the radius | GARD:21206 | MONDO:equivalentTo | Congenital pseudoarthrosis of the radius | | | -| MONDO:0865507 | congenital pseudoarthrosis of the ulna | GARD:21207 | MONDO:equivalentTo | Congenital pseudoarthrosis of the ulna | | | -| MONDO:0865508 | tibio-fibular synostosis | GARD:21208 | MONDO:equivalentTo | Tibio-fibular synostosis | | | -| MONDO:0865509 | true congenital shoulder dislocation | GARD:21209 | MONDO:equivalentTo | True congenital shoulder dislocation | | | -| MONDO:0865510 | isolated congenital radial head dislocation | GARD:21210 | MONDO:equivalentTo | Isolated congenital radial head dislocation | | | -| MONDO:0865511 | congenital knee dislocation | GARD:21211 | MONDO:equivalentTo | Congenital knee dislocation | | | -| MONDO:0865512 | upper limb hypertrophy | GARD:21212 | MONDO:equivalentTo | Upper limb hypertrophy | | | -| MONDO:0865513 | lower limb hypertrophy | GARD:21213 | MONDO:equivalentTo | Lower limb hypertrophy | | | -| MONDO:0865514 | zygodactyly type 2 | GARD:21214 | MONDO:equivalentTo | Zygodactyly type 2 | | | -| MONDO:0865515 | zygodactyly type 3 | GARD:21215 | MONDO:equivalentTo | Zygodactyly type 3 | | | -| MONDO:0865516 | zygodactyly type 4 | GARD:21216 | MONDO:equivalentTo | Zygodactyly type 4 | | | -| MONDO:0865517 | congenital vertical talus, unilateral | GARD:21217 | MONDO:equivalentTo | Congenital vertical talus, unilateral | | | -| MONDO:0865518 | congenital vertical talus, bilateral | GARD:21218 | MONDO:equivalentTo | Congenital vertical talus, bilateral | | | -| MONDO:0865519 | humero-ulnar synostosis, unilateral | GARD:21219 | MONDO:equivalentTo | Humero-ulnar synostosis, unilateral | | | -| MONDO:0865520 | humero-ulnar synostosis, bilateral | GARD:21220 | MONDO:equivalentTo | Humero-ulnar synostosis, bilateral | | | -| MONDO:0865521 | radio-ulnar synostosis, unilateral | GARD:21221 | MONDO:equivalentTo | Radio-ulnar synostosis, unilateral | | | -| MONDO:0865522 | radio-ulnar synostosis, bilateral | GARD:21222 | MONDO:equivalentTo | Radio-ulnar synostosis, bilateral | | | -| MONDO:0865523 | congenital elbow dislocation, unilateral | GARD:21223 | MONDO:equivalentTo | Congenital elbow dislocation, unilateral | | | -| MONDO:0865524 | congenital elbow dislocation, bilateral | GARD:21224 | MONDO:equivalentTo | Congenital elbow dislocation, bilateral | | | -| MONDO:0865525 | congenital genu recurvatum | GARD:21225 | MONDO:equivalentTo | Congenital genu recurvatum | | | -| MONDO:0865526 | congenital genu flexum | GARD:21226 | MONDO:equivalentTo | Congenital genu flexum | | | -| MONDO:0865527 | macrodactyly of fingers, unilateral | GARD:21227 | MONDO:equivalentTo | Macrodactyly of fingers, unilateral | | | -| MONDO:0865528 | macrodactyly of fingers, bilateral | GARD:21228 | MONDO:equivalentTo | Macrodactyly of fingers, bilateral | | | -| MONDO:0865529 | macrodactyly of toes, unilateral | GARD:21229 | MONDO:equivalentTo | Macrodactyly of toes, unilateral | | | -| MONDO:0865530 | eng-strom syndrome | GARD:2123 | MONDO:equivalentTo | Eng-Strom syndrome | | | -| MONDO:0865531 | macrodactyly of toes, bilateral | GARD:21230 | MONDO:equivalentTo | Macrodactyly of toes, bilateral | | | -| MONDO:0865532 | disorder of thiamine metabolism and transport | GARD:21231 | MONDO:equivalentTo | Disorder of thiamine metabolism and transport | | | -| MONDO:0865533 | 11p15.4 microduplication syndrome | GARD:21232 | MONDO:equivalentTo | 11p15.4 microduplication syndrome | | | -| MONDO:0865534 | sagliker syndrome | GARD:21233 | MONDO:equivalentTo | Sagliker syndrome | | | -| MONDO:0865535 | onychomatricoma | GARD:21234 | MONDO:equivalentTo | Onychomatricoma | | | -| MONDO:0865536 | rare nail tumor | GARD:21235 | MONDO:equivalentTo | Rare nail tumor | | | -| MONDO:0865537 | follicular cholangitis and pancreatitis | GARD:21236 | MONDO:equivalentTo | Follicular cholangitis and pancreatitis | | | -| MONDO:0865538 | carcinoma of the ampulla of vater | GARD:21237 | MONDO:equivalentTo | Carcinoma of the ampulla of Vater | | | -| MONDO:0865539 | combined pulmonary fibrosis-emphysema syndrome | GARD:21238 | MONDO:equivalentTo | Combined pulmonary fibrosis-emphysema syndrome | | | -| MONDO:0865540 | staphylococcal toxemia | GARD:21239 | MONDO:equivalentTo | Staphylococcal toxemia | | | -| MONDO:0865541 | laminopathy with striated muscle involvement | GARD:21240 | MONDO:equivalentTo | Laminopathy with striated muscle involvement | | | -| MONDO:0865542 | laminopathy with peripheral neuropathy | GARD:21241 | MONDO:equivalentTo | Laminopathy with peripheral neuropathy | | | -| MONDO:0865543 | laminopathy with lipodystrophy | GARD:21242 | MONDO:equivalentTo | Laminopathy with lipodystrophy | | | -| MONDO:0865544 | laminopathy with premature aging | GARD:21243 | MONDO:equivalentTo | Laminopathy with premature aging | | | -| MONDO:0865545 | indolent b-cell non-hodgkin lymphoma | GARD:21244 | MONDO:equivalentTo | Indolent B-cell non-Hodgkin lymphoma | | | -| MONDO:0865546 | aggressive b-cell non-hodgkin lymphoma | GARD:21245 | MONDO:equivalentTo | Aggressive B-cell non-Hodgkin lymphoma | | | -| MONDO:0865547 | diffuse large b-cell lymphoma of the central nervous system | GARD:21246 | MONDO:equivalentTo | Diffuse large B-cell lymphoma of the central nervous system | | | -| MONDO:0865548 | primary cutaneous anaplastic large cell lymphoma | GARD:21247 | MONDO:equivalentTo | Primary cutaneous anaplastic large cell lymphoma | | | -| MONDO:0865549 | splenic diffuse red pulp small b-cell lymphoma | GARD:21248 | MONDO:equivalentTo | Splenic diffuse red pulp small B-cell lymphoma | | | -| MONDO:0865550 | hairy cell leukemia variant | GARD:21249 | MONDO:equivalentTo | Hairy cell leukemia variant | | | -| MONDO:0865551 | glycogen storage disease due to muscle beta-enolase deficiency | GARD:2125 | MONDO:equivalentTo | Glycogen storage disease due to muscle beta-enolase deficiency | | | -| MONDO:0865552 | diffuse large b-cell lymphoma with chronic inflammation | GARD:21250 | MONDO:equivalentTo | Diffuse large B-cell lymphoma with chronic inflammation | | | -| MONDO:0865553 | alk-positive anaplastic large cell lymphoma | GARD:21251 | MONDO:equivalentTo | ALK-positive anaplastic large cell lymphoma | | | -| MONDO:0865554 | alk-negative anaplastic large cell lymphoma | GARD:21252 | MONDO:equivalentTo | ALK-negative anaplastic large cell lymphoma | | | -| MONDO:0865555 | pituitary tumor | GARD:21253 | MONDO:equivalentTo | Pituitary tumor | | | -| MONDO:0865556 | primary hypomagnesemia with hypercalciuria and nephrocalcinosis | GARD:21254 | MONDO:equivalentTo | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis | | | -| MONDO:0865557 | myospherulosis | GARD:21255 | MONDO:equivalentTo | Myospherulosis | | | -| MONDO:0865558 | rare tumor of gallbladder and extrahepatic biliary tract | GARD:21256 | MONDO:equivalentTo | Rare tumor of gallbladder and extrahepatic biliary tract | | | -| MONDO:0865559 | rare tumor of liver and intrahepatic biliary tract | GARD:21257 | MONDO:equivalentTo | Rare tumor of liver and intrahepatic biliary tract | | | -| MONDO:0865560 | rare intoxication due to medical products | GARD:21258 | MONDO:equivalentTo | Rare intoxication due to medical products | | | -| MONDO:0865561 | complication after organ transplantation | GARD:21259 | MONDO:equivalentTo | Complication after organ transplantation | | | -| MONDO:0865562 | non-infectious anterior uveitis | GARD:21260 | MONDO:equivalentTo | Non-infectious anterior uveitis | | | -| MONDO:0865563 | rare parkinsonian syndrome due to neurodegenerative disease | GARD:21261 | MONDO:equivalentTo | Rare parkinsonian syndrome due to neurodegenerative disease | | | -| MONDO:0865564 | hemiparkinsonism-hemiatrophy syndrome | GARD:21262 | MONDO:equivalentTo | Hemiparkinsonism-hemiatrophy syndrome | | | -| MONDO:0865565 | rare parkinsonian syndrome due to intoxication | GARD:21263 | MONDO:equivalentTo | Rare parkinsonian syndrome due to intoxication | | | -| MONDO:0865566 | manganese poisoning | GARD:21264 | MONDO:equivalentTo | Manganese poisoning | | | -| MONDO:0865567 | delayed encephalopathy due to carbon monoxide poisoning | GARD:21265 | MONDO:equivalentTo | Delayed encephalopathy due to carbon monoxide poisoning | | | -| MONDO:0865568 | cyanide-induced parkinsonism-dystonia | GARD:21266 | MONDO:equivalentTo | Cyanide-induced parkinsonism-dystonia | | | -| MONDO:0865569 | miscellaneous movement disorder due to neurodegenerative disease | GARD:21267 | MONDO:equivalentTo | Miscellaneous movement disorder due to neurodegenerative disease | | | -| MONDO:0865570 | frontotemporal neurodegeneration with movement disorder | GARD:21268 | MONDO:equivalentTo | Frontotemporal neurodegeneration with movement disorder | | | -| MONDO:0865571 | rare tremor disorder | GARD:21269 | MONDO:equivalentTo | Rare tremor disorder | | | -| MONDO:0865572 | rare choreic movement disorder | GARD:21270 | MONDO:equivalentTo | Rare choreic movement disorder | | | -| MONDO:0865573 | neurodegenerative disease with chorea | GARD:21271 | MONDO:equivalentTo | Neurodegenerative disease with chorea | | | -| MONDO:0865574 | postinfectious autoimmune disease with chorea | GARD:21272 | MONDO:equivalentTo | Postinfectious autoimmune disease with chorea | | | -| MONDO:0865575 | hemidystonia-hemiatrophy syndrome | GARD:21273 | MONDO:equivalentTo | Hemidystonia-hemiatrophy syndrome | | | -| MONDO:0865576 | rare myoclonus | GARD:21274 | MONDO:equivalentTo | Rare myoclonus | | | -| MONDO:0865577 | primary myoclonus | GARD:21275 | MONDO:equivalentTo | Primary myoclonus | | | -| MONDO:0865578 | rare disease with myoclonus as a major feature | GARD:21276 | MONDO:equivalentTo | Rare disease with myoclonus as a major feature | | | -| MONDO:0865579 | epilepsy and/or ataxia with myoclonus as a major feature | GARD:21277 | MONDO:equivalentTo | Epilepsy and/or ataxia with myoclonus as a major feature | | | -| MONDO:0865580 | non progressive epilepsy and/or ataxia with myoclonus as a major feature | GARD:21278 | MONDO:equivalentTo | Non progressive epilepsy and/or ataxia with myoclonus as a major feature | | | -| MONDO:0865581 | motor stereotypies | GARD:21279 | MONDO:equivalentTo | Motor stereotypies | | | -| MONDO:0865582 | rare paroxysmal movement disorder | GARD:21280 | MONDO:equivalentTo | Rare paroxysmal movement disorder | | | -| MONDO:0865583 | hyperekplexia | GARD:21281 | MONDO:equivalentTo | Hyperekplexia | | | -| MONDO:0865584 | sporadic hyperekplexia | GARD:21282 | MONDO:equivalentTo | Sporadic hyperekplexia | | | -| MONDO:0865585 | rare genetic parkinsonian disorder | GARD:21283 | MONDO:equivalentTo | Rare genetic parkinsonian disorder | | | -| MONDO:0865586 | rare parkinsonian syndrome due to genetic neurodegenerative disease | GARD:21284 | MONDO:equivalentTo | Rare parkinsonian syndrome due to genetic neurodegenerative disease | | | -| MONDO:0865587 | miscellaneous movement disorder due to genetic neurodegenerative disease | GARD:21285 | MONDO:equivalentTo | Miscellaneous movement disorder due to genetic neurodegenerative disease | | | -| MONDO:0865588 | rare genetic tremor disorder | GARD:21286 | MONDO:equivalentTo | Rare genetic tremor disorder | | | -| MONDO:0865589 | rare genetic myoclonus | GARD:21287 | MONDO:equivalentTo | Rare genetic myoclonus | | | -| MONDO:0865590 | rare genetic disease with myoclonus as a major feature | GARD:21288 | MONDO:equivalentTo | Rare genetic disease with myoclonus as a major feature | | | -| MONDO:0865591 | diffuse palmoplantar keratoderma | GARD:21289 | MONDO:equivalentTo | Diffuse palmoplantar keratoderma | | | -| MONDO:0865592 | isolated diffuse palmoplantar keratoderma | GARD:21290 | MONDO:equivalentTo | Isolated diffuse palmoplantar keratoderma | | | -| MONDO:0865593 | disease with diffuse palmoplantar keratoderma as a major feature | GARD:21291 | MONDO:equivalentTo | Disease with diffuse palmoplantar keratoderma as a major feature | | | -| MONDO:0865594 | autosomal dominant diffuse mutilating palmoplantar keratoderma | GARD:21292 | MONDO:equivalentTo | Autosomal dominant diffuse mutilating palmoplantar keratoderma | | | -| MONDO:0865595 | autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature | GARD:21293 | MONDO:equivalentTo | Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature | | | -| MONDO:0865596 | focal palmoplantar keratoderma | GARD:21294 | MONDO:equivalentTo | Focal palmoplantar keratoderma | | | -| MONDO:0865597 | isolated focal palmoplantar keratoderma | GARD:21295 | MONDO:equivalentTo | Isolated focal palmoplantar keratoderma | | | -| MONDO:0865598 | disease with focal palmoplantar keratoderma as a major feature | GARD:21296 | MONDO:equivalentTo | Disease with focal palmoplantar keratoderma as a major feature | | | -| MONDO:0865599 | punctate palmoplantar keratoderma | GARD:21297 | MONDO:equivalentTo | Punctate palmoplantar keratoderma | | | -| MONDO:0865600 | marginal papular palmoplantar keratoderma | GARD:21298 | MONDO:equivalentTo | Marginal papular palmoplantar keratoderma | | | -| MONDO:0865601 | focal acral hyperkeratosis | GARD:21299 | MONDO:equivalentTo | Focal acral hyperkeratosis | | | -| MONDO:0865602 | axial mesodermal dysplasia spectrum | GARD:213 | MONDO:equivalentTo | Axial mesodermal dysplasia spectrum | | | -| MONDO:0865603 | congenital enterovirus infection | GARD:2130 | MONDO:equivalentTo | Congenital enterovirus infection | | | -| MONDO:0865604 | disease with punctate palmoplantar keratoderma as a major feature | GARD:21300 | MONDO:equivalentTo | Disease with punctate palmoplantar keratoderma as a major feature | | | -| MONDO:0865605 | autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature | GARD:21301 | MONDO:equivalentTo | Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature | | | -| MONDO:0865606 | autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature | GARD:21302 | MONDO:equivalentTo | Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature | | | -| MONDO:0865607 | disorder of beta and omega amino acid metabolism | GARD:21303 | MONDO:equivalentTo | Disorder of beta and omega amino acid metabolism | | | -| MONDO:0865608 | aminoacylase deficiency | GARD:21304 | MONDO:equivalentTo | Aminoacylase deficiency | | | -| MONDO:0865609 | disorder of neutral amino acid transport | GARD:21305 | MONDO:equivalentTo | Disorder of neutral amino acid transport | | | -| MONDO:0865610 | disorder of glycolysis | GARD:21306 | MONDO:equivalentTo | Disorder of glycolysis | | | -| MONDO:0865611 | disorder of fructose metabolism | GARD:21307 | MONDO:equivalentTo | Disorder of fructose metabolism | | | -| MONDO:0865612 | disorder of galactose metabolism | GARD:21308 | MONDO:equivalentTo | Disorder of galactose metabolism | | | -| MONDO:0865613 | glycogen storage disease due to glycogen synthase deficiency | GARD:21309 | MONDO:equivalentTo | Glycogen storage disease due to glycogen synthase deficiency | | | -| MONDO:0865614 | glycogen storage disease due to acid maltase deficiency, infantile onset | GARD:21310 | MONDO:equivalentTo | Glycogen storage disease due to acid maltase deficiency, infantile onset | | | -| MONDO:0865615 | glycerol kinase deficiency | GARD:21311 | MONDO:equivalentTo | Glycerol kinase deficiency | | | -| MONDO:0865616 | disorder of glyoxylate metabolism | GARD:21312 | MONDO:equivalentTo | Disorder of glyoxylate metabolism | | | -| MONDO:0865617 | disorder of carbohydrate absorption and transport | GARD:21313 | MONDO:equivalentTo | Disorder of carbohydrate absorption and transport | | | -| MONDO:0865618 | disorder of lipid metabolism | GARD:21314 | MONDO:equivalentTo | Disorder of lipid metabolism | | | -| MONDO:0865619 | mevalonate kinase deficiency | GARD:21315 | MONDO:equivalentTo | Mevalonate kinase deficiency | | | -| MONDO:0865620 | disorder of lipid absorption and transport | GARD:21316 | MONDO:equivalentTo | Disorder of lipid absorption and transport | | | -| MONDO:0865621 | disorder of fatty acid oxidation and ketogenesis | GARD:21317 | MONDO:equivalentTo | Disorder of fatty acid oxidation and ketogenesis | | | -| MONDO:0865622 | acyl-coa dehydrogenase deficiency | GARD:21318 | MONDO:equivalentTo | Acyl-CoA dehydrogenase deficiency | | | -| MONDO:0865623 | 3-hydroxyacyl-coa dehydrogenase deficiency | GARD:21319 | MONDO:equivalentTo | 3-hydroxyacyl-CoA dehydrogenase deficiency | | | -| MONDO:0865624 | disorder of carnitine cycle and carnitine transport | GARD:21320 | MONDO:equivalentTo | Disorder of carnitine cycle and carnitine transport | | | -| MONDO:0865625 | metabolic disease due to other fatty acid oxidation disorder | GARD:21321 | MONDO:equivalentTo | Metabolic disease due to other fatty acid oxidation disorder | | | -| MONDO:0865626 | mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes | GARD:21322 | MONDO:equivalentTo | Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes | | | -| MONDO:0865627 | gm2 gangliosidosis | GARD:21323 | MONDO:equivalentTo | GM2 gangliosidosis | | | -| MONDO:0865628 | tay-sachs disease, b variant, infantile form | GARD:21324 | MONDO:equivalentTo | Tay-Sachs disease, B variant, infantile form | | | -| MONDO:0865629 | tay-sachs disease, b variant, juvenile form | GARD:21325 | MONDO:equivalentTo | Tay-Sachs disease, B variant, juvenile form | | | -| MONDO:0865630 | tay-sachs disease, b variant, adult form | GARD:21326 | MONDO:equivalentTo | Tay-Sachs disease, B variant, adult form | | | -| MONDO:0865631 | tay-sachs disease, b1 variant | GARD:21327 | MONDO:equivalentTo | Tay-Sachs disease, B1 variant | | | -| MONDO:0865632 | metachromatic leukodystrophy, late infantile form | GARD:21328 | MONDO:equivalentTo | Metachromatic leukodystrophy, late infantile form | | | -| MONDO:0865633 | metachromatic leukodystrophy, juvenile form | GARD:21329 | MONDO:equivalentTo | Metachromatic leukodystrophy, juvenile form | | | -| MONDO:0865634 | metachromatic leukodystrophy, adult form | GARD:21330 | MONDO:equivalentTo | Metachromatic leukodystrophy, adult form | | | -| MONDO:0865635 | sialidosis | GARD:21331 | MONDO:equivalentTo | Sialidosis | | | -| MONDO:0865636 | disorder of sialic acid metabolism | GARD:21332 | MONDO:equivalentTo | Disorder of sialic acid metabolism | | | -| MONDO:0865637 | lysosomal glycogen storage disease | GARD:21333 | MONDO:equivalentTo | Lysosomal glycogen storage disease | | | -| MONDO:0865638 | disorder of lysosomal-related organelles | GARD:21334 | MONDO:equivalentTo | Disorder of lysosomal-related organelles | | | -| MONDO:0865639 | disorder of protein n-glycosylation | GARD:21335 | MONDO:equivalentTo | Disorder of protein N-glycosylation | | | -| MONDO:0865640 | disorder of protein o-glycosylation | GARD:21336 | MONDO:equivalentTo | Disorder of protein O-glycosylation | | | -| MONDO:0865641 | disorder of o-xylosylglycan synthesis | GARD:21337 | MONDO:equivalentTo | Disorder of O-xylosylglycan synthesis | | | -| MONDO:0865642 | disorder of o-n-acetylgalactosaminylglycan synthesis | GARD:21338 | MONDO:equivalentTo | Disorder of O-N-acetylgalactosaminylglycan synthesis | | | -| MONDO:0865643 | disorder of o-xylosyl/n-acetylgalactosaminylglycan synthesis | GARD:21339 | MONDO:equivalentTo | Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis | | | -| MONDO:0865644 | disorder of o-mannosylglycan synthesis | GARD:21340 | MONDO:equivalentTo | Disorder of O-mannosylglycan synthesis | | | -| MONDO:0865645 | disorder of fucoglycosan synthesis | GARD:21341 | MONDO:equivalentTo | Disorder of fucoglycosan synthesis | | | -| MONDO:0865646 | disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation | GARD:21342 | MONDO:equivalentTo | Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation | | | -| MONDO:0865647 | disorder of multiple glycosylation | GARD:21343 | MONDO:equivalentTo | Disorder of multiple glycosylation | | | -| MONDO:0865648 | defect in conserved oligomeric golgi complex | GARD:21344 | MONDO:equivalentTo | Defect in conserved oligomeric Golgi complex | | | -| MONDO:0865649 | defect in v-atpase | GARD:21345 | MONDO:equivalentTo | Defect in V-ATPase | | | -| MONDO:0865650 | disorder of porphyrin and heme metabolism | GARD:21346 | MONDO:equivalentTo | Disorder of porphyrin and heme metabolism | | | -| MONDO:0865651 | disorder of bilirubin metabolism and excretion | GARD:21347 | MONDO:equivalentTo | Disorder of bilirubin metabolism and excretion | | | -| MONDO:0865652 | disorder of pterin metabolism | GARD:21348 | MONDO:equivalentTo | Disorder of pterin metabolism | | | -| MONDO:0865653 | disorder of metabolite absorption and transport | GARD:21349 | MONDO:equivalentTo | Disorder of metabolite absorption and transport | | | -| MONDO:0865654 | disorder of vitamin and non-protein cofactor absorption and transport | GARD:21350 | MONDO:equivalentTo | Disorder of vitamin and non-protein cofactor absorption and transport | | | -| MONDO:0865655 | disorder of catecholamine synthesis | GARD:21351 | MONDO:equivalentTo | Disorder of catecholamine synthesis | | | -| MONDO:0865656 | disorder of other vitamins and cofactors metabolism and transport | GARD:21352 | MONDO:equivalentTo | Disorder of other vitamins and cofactors metabolism and transport | | | -| MONDO:0865657 | disorder of mineral absorption and transport | GARD:21353 | MONDO:equivalentTo | Disorder of mineral absorption and transport | | | -| MONDO:0865658 | disorder of copper metabolism | GARD:21354 | MONDO:equivalentTo | Disorder of copper metabolism | | | -| MONDO:0865659 | disorder of iron metabolism and transport | GARD:21355 | MONDO:equivalentTo | Disorder of iron metabolism and transport | | | -| MONDO:0865660 | disorder of zinc metabolism and transport | GARD:21356 | MONDO:equivalentTo | Disorder of zinc metabolism and transport | | | -| MONDO:0865661 | disorder of magnesium transport | GARD:21357 | MONDO:equivalentTo | Disorder of magnesium transport | | | -| MONDO:0865662 | disorder of manganese transport | GARD:21358 | MONDO:equivalentTo | Disorder of manganese transport | | | -| MONDO:0865663 | acquired immunodeficiency | GARD:21359 | MONDO:equivalentTo | Acquired immunodeficiency | | | -| MONDO:0865664 | 20p13 microdeletion syndrome | GARD:21360 | MONDO:equivalentTo | 20p13 microdeletion syndrome | | | -| MONDO:0865665 | congenital pancreatic cyst | GARD:21361 | MONDO:equivalentTo | Congenital pancreatic cyst | | | -| MONDO:0865666 | epstein-barr virus-associated gastric carcinoma | GARD:21362 | MONDO:equivalentTo | Epstein-Barr virus-associated gastric carcinoma | | | -| MONDO:0865667 | 2q23.1 microduplication syndrome | GARD:21363 | MONDO:equivalentTo | 2q23.1 microduplication syndrome | | | -| MONDO:0865668 | contractures-webbed neck-micrognathia-hypoplastic nipples syndrome | GARD:21364 | MONDO:equivalentTo | Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome | | | -| MONDO:0865669 | idiopathic linear interstitial keratitis | GARD:21365 | MONDO:equivalentTo | Idiopathic linear interstitial keratitis | | | -| MONDO:0865670 | high bone mass osteogenesis imperfecta | GARD:21366 | MONDO:equivalentTo | High bone mass osteogenesis imperfecta | | | -| MONDO:0865671 | 7p22.1 microduplication syndrome | GARD:21367 | MONDO:equivalentTo | 7p22.1 microduplication syndrome | | | -| MONDO:0865672 | marfanoid habitus-inguinal hernia-advanced bone age syndrome | GARD:21368 | MONDO:equivalentTo | Marfanoid habitus-inguinal hernia-advanced bone age syndrome | | | -| MONDO:0865673 | xq12-q13.3 duplication syndrome | GARD:21369 | MONDO:equivalentTo | Xq12-q13.3 duplication syndrome | | | -| MONDO:0865674 | epidermolysis bullosa simplex with muscular dystrophy | GARD:2137 | MONDO:equivalentTo | Epidermolysis bullosa simplex with muscular dystrophy | | | -| MONDO:0865675 | rare odontogenic tumor | GARD:21370 | MONDO:equivalentTo | Rare odontogenic tumor | | | -| MONDO:0865676 | spigelian hernia-cryptorchidism syndrome | GARD:21371 | MONDO:equivalentTo | Spigelian hernia-cryptorchidism syndrome | | | -| MONDO:0865677 | meigs syndrome | GARD:21372 | MONDO:equivalentTo | Meigs syndrome | | | -| MONDO:0865678 | pseudo-meigs syndrome | GARD:21373 | MONDO:equivalentTo | Pseudo-Meigs syndrome | | | -| MONDO:0865679 | atypical meigs syndrome | GARD:21374 | MONDO:equivalentTo | Atypical Meigs syndrome | | | -| MONDO:0865680 | ovarian fibroma | GARD:21375 | MONDO:equivalentTo | Ovarian fibroma | | | -| MONDO:0865681 | ovarian fibrothecoma | GARD:21376 | MONDO:equivalentTo | Ovarian fibrothecoma | | | -| MONDO:0865682 | primary progressive apraxia of speech | GARD:21377 | MONDO:equivalentTo | Primary progressive apraxia of speech | | | -| MONDO:0865683 | autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome | GARD:21378 | MONDO:equivalentTo | Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome | | | -| MONDO:0865684 | intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome | GARD:21379 | MONDO:equivalentTo | Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome | | | -| MONDO:0865685 | growing teratoma syndrome | GARD:21380 | MONDO:equivalentTo | Growing teratoma syndrome | | | -| MONDO:0865686 | duplication of the pituitary gland | GARD:21381 | MONDO:equivalentTo | Duplication of the pituitary gland | | | -| MONDO:0865687 | variant abeta2m amyloidosis | GARD:21382 | MONDO:equivalentTo | Variant ABeta2M amyloidosis | | | -| MONDO:0865688 | severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | GARD:21383 | MONDO:equivalentTo | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | | | -| MONDO:0865689 | segmental progressive overgrowth syndrome with fibroadipose hyperplasia | GARD:21384 | MONDO:equivalentTo | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | | | -| MONDO:0865690 | primary bone lymphoma | GARD:21385 | MONDO:equivalentTo | Primary bone lymphoma | | | -| MONDO:0865691 | acquired porencephaly | GARD:21386 | MONDO:equivalentTo | Acquired porencephaly | | | -| MONDO:0865692 | primary localized amyloidosis | GARD:21387 | MONDO:equivalentTo | Primary localized amyloidosis | | | -| MONDO:0865693 | rare disease with cushing syndrome as a major feature | GARD:21388 | MONDO:equivalentTo | Rare disease with Cushing syndrome as a major feature | | | -| MONDO:0865694 | functioning pituitary adenoma | GARD:21389 | MONDO:equivalentTo | Functioning pituitary adenoma | | | -| MONDO:0865695 | autosomal dominant generalized dystrophic epidermolysis bullosa | GARD:2139 | MONDO:equivalentTo | Autosomal dominant generalized dystrophic epidermolysis bullosa | | | -| MONDO:0865696 | mixed functioning pituitary adenoma | GARD:21390 | MONDO:equivalentTo | Mixed functioning pituitary adenoma | | | -| MONDO:0865697 | somatomammotropinoma | GARD:21391 | MONDO:equivalentTo | Somatomammotropinoma | | | -| MONDO:0865698 | silent pituitary adenoma | GARD:21392 | MONDO:equivalentTo | Silent pituitary adenoma | | | -| MONDO:0865699 | null pituitary adenoma | GARD:21393 | MONDO:equivalentTo | Null pituitary adenoma | | | -| MONDO:0865700 | autosomal dominant proximal renal tubular acidosis | GARD:21394 | MONDO:equivalentTo | Autosomal dominant proximal renal tubular acidosis | | | -| MONDO:0865701 | primary hypereosinophilic syndrome | GARD:21395 | MONDO:equivalentTo | Primary hypereosinophilic syndrome | | | -| MONDO:0865702 | secondary hypereosinophilic syndrome | GARD:21396 | MONDO:equivalentTo | Secondary hypereosinophilic syndrome | | | -| MONDO:0865703 | lymphocytic hypereosinophilic syndrome | GARD:21397 | MONDO:equivalentTo | Lymphocytic hypereosinophilic syndrome | | | -| MONDO:0865704 | classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form | GARD:21398 | MONDO:equivalentTo | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form | | | -| MONDO:0865705 | classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form | GARD:21399 | MONDO:equivalentTo | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form | | | -| MONDO:0865706 | autoimmune disease with skin involvement | GARD:21400 | MONDO:equivalentTo | Autoimmune disease with skin involvement | | | -| MONDO:0865707 | spastic ataxia | GARD:21401 | MONDO:equivalentTo | Spastic ataxia | | | -| MONDO:0865708 | autosomal dominant spastic ataxia | GARD:21402 | MONDO:equivalentTo | Autosomal dominant spastic ataxia | | | -| MONDO:0865709 | autosomal recessive spastic ataxia | GARD:21403 | MONDO:equivalentTo | Autosomal recessive spastic ataxia | | | -| MONDO:0865710 | partial deletion of the short arm of chromosome 12 | GARD:21404 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 12 | | | -| MONDO:0865711 | t-b+ severe combined immunodeficiency | GARD:21405 | MONDO:equivalentTo | T-B+ severe combined immunodeficiency | | | -| MONDO:0865712 | t-b- severe combined immunodeficiency | GARD:21406 | MONDO:equivalentTo | T-B- severe combined immunodeficiency | | | -| MONDO:0865713 | diencephalic-mesencephalic junction dysplasia | GARD:21407 | MONDO:equivalentTo | Diencephalic-mesencephalic junction dysplasia | | | -| MONDO:0865714 | chondroectodermal dysplasia with night blindness | GARD:21408 | MONDO:equivalentTo | Chondroectodermal dysplasia with night blindness | | | -| MONDO:0865715 | bilateral massive adrenal hemorrhage | GARD:21409 | MONDO:equivalentTo | Bilateral massive adrenal hemorrhage | | | -| MONDO:0865716 | autosomal dominant generalized epidermolysis bullosa simplex, severe form | GARD:2141 | MONDO:equivalentTo | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | -| MONDO:0865717 | lujo hemorrhagic fever | GARD:21410 | MONDO:equivalentTo | Lujo hemorrhagic fever | | | -| MONDO:0865718 | argentine hemorrhagic fever | GARD:21411 | MONDO:equivalentTo | Argentine hemorrhagic fever | | | -| MONDO:0865719 | bolivian hemorrhagic fever | GARD:21412 | MONDO:equivalentTo | Bolivian hemorrhagic fever | | | -| MONDO:0865720 | venezuelan hemorrhagic fever | GARD:21413 | MONDO:equivalentTo | Venezuelan hemorrhagic fever | | | -| MONDO:0865721 | brazilian hemorrhagic fever | GARD:21414 | MONDO:equivalentTo | Brazilian hemorrhagic fever | | | -| MONDO:0865722 | chapare hemorrhagic fever | GARD:21415 | MONDO:equivalentTo | Chapare hemorrhagic fever | | | -| MONDO:0865723 | rift valley fever | GARD:21416 | MONDO:equivalentTo | Rift valley fever | | | -| MONDO:0865724 | multilocular cystic renal neoplasm of low malignant potential | GARD:21417 | MONDO:equivalentTo | Multilocular cystic renal neoplasm of low malignant potential | | | -| MONDO:0865725 | mucinous tubular and spindle cell renal carcinoma | GARD:21418 | MONDO:equivalentTo | Mucinous tubular and spindle cell renal carcinoma | | | -| MONDO:0865726 | tubulocystic renal cell carcinoma | GARD:21419 | MONDO:equivalentTo | Tubulocystic renal cell carcinoma | | | -| MONDO:0865727 | inherited renal cancer-predisposing syndrome | GARD:21420 | MONDO:equivalentTo | Inherited renal cancer-predisposing syndrome | | | -| MONDO:0865728 | familial nonmedullary thyroid carcinoma | GARD:21421 | MONDO:equivalentTo | Familial nonmedullary thyroid carcinoma | | | -| MONDO:0865729 | autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency | GARD:21422 | MONDO:equivalentTo | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency | | | -| MONDO:0865730 | autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency | GARD:21423 | MONDO:equivalentTo | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency | | | -| MONDO:0865731 | autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency | GARD:21424 | MONDO:equivalentTo | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency | | | -| MONDO:0865732 | autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency | GARD:21425 | MONDO:equivalentTo | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | | | -| MONDO:0865733 | primary lymphoma of the conjunctiva | GARD:21426 | MONDO:equivalentTo | Primary lymphoma of the conjunctiva | | | -| MONDO:0865734 | autoinflammatory syndrome of childhood | GARD:21427 | MONDO:equivalentTo | Autoinflammatory syndrome of childhood | | | -| MONDO:0865735 | x-linked pure spastic paraplegia | GARD:21428 | MONDO:equivalentTo | X-linked pure spastic paraplegia | | | -| MONDO:0865736 | pure or complex hereditary spastic paraplegia | GARD:21429 | MONDO:equivalentTo | Pure or complex hereditary spastic paraplegia | | | -| MONDO:0865737 | junctional epidermolysis bullosa inversa | GARD:2143 | MONDO:equivalentTo | Junctional epidermolysis bullosa inversa | | | -| MONDO:0865738 | pure or complex autosomal dominant spastic paraplegia | GARD:21430 | MONDO:equivalentTo | Pure or complex autosomal dominant spastic paraplegia | | | -| MONDO:0865739 | pure or complex autosomal recessive spastic paraplegia | GARD:21431 | MONDO:equivalentTo | Pure or complex autosomal recessive spastic paraplegia | | | -| MONDO:0865740 | pure or complex x-linked spastic paraplegia | GARD:21432 | MONDO:equivalentTo | Pure or complex X-linked spastic paraplegia | | | -| MONDO:0865741 | mt-atp6-related mitochondrial spastic paraplegia | GARD:21433 | MONDO:equivalentTo | MT-ATP6-related mitochondrial spastic paraplegia | | | -| MONDO:0865742 | genetic tumor of hematopoietic and lymphoid tissues | GARD:21434 | MONDO:equivalentTo | Genetic tumor of hematopoietic and lymphoid tissues | | | -| MONDO:0865743 | multiple paragangliomas associated with polycythemia | GARD:21435 | MONDO:equivalentTo | Multiple paragangliomas associated with polycythemia | | | -| MONDO:0865744 | severe lateral tibial bowing with short stature | GARD:21436 | MONDO:equivalentTo | Severe lateral tibial bowing with short stature | | | -| MONDO:0865745 | 9p13 microdeletion syndrome | GARD:21437 | MONDO:equivalentTo | 9p13 microdeletion syndrome | | | -| MONDO:0865746 | congenital achiasma | GARD:21438 | MONDO:equivalentTo | Congenital achiasma | | | -| MONDO:0865747 | mixed sclerosing bone dystrophy with extra-skeletal manifestations | GARD:21439 | MONDO:equivalentTo | Mixed sclerosing bone dystrophy with extra-skeletal manifestations | | | -| MONDO:0865748 | hereditary inclusion body myopathy type 4 | GARD:21440 | MONDO:equivalentTo | Hereditary inclusion body myopathy type 4 | | | -| MONDO:0865749 | muscular hypertrophy-hepatomegaly-polyhydramnios syndrome | GARD:21441 | MONDO:equivalentTo | Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome | | | -| MONDO:0865750 | hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial dna mutation | GARD:21442 | MONDO:equivalentTo | Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation | | | -| MONDO:0865751 | aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome | GARD:21443 | MONDO:equivalentTo | Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome | | | -| MONDO:0865752 | hyperinsulinism due to hnf1a deficiency | GARD:21444 | MONDO:equivalentTo | Hyperinsulinism due to HNF1A deficiency | | | -| MONDO:0865753 | benign samaritan congenital myopathy | GARD:21445 | MONDO:equivalentTo | Benign Samaritan congenital myopathy | | | -| MONDO:0865754 | autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain | GARD:21446 | MONDO:equivalentTo | Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain | | | -| MONDO:0865755 | autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation | GARD:21447 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation | | | -| MONDO:0865756 | hendra virus infection | GARD:21448 | MONDO:equivalentTo | Hendra virus infection | | | -| MONDO:0865757 | invasive non-typhoidal salmonellosis | GARD:21449 | MONDO:equivalentTo | Invasive non-typhoidal salmonellosis | | | -| MONDO:0865758 | microcephalic primordial dwarfism | GARD:21450 | MONDO:equivalentTo | Microcephalic primordial dwarfism | | | -| MONDO:0865759 | trichorhinophalangeal syndrome | GARD:21451 | MONDO:equivalentTo | Trichorhinophalangeal syndrome | | | -| MONDO:0865760 | non-familial rare disease with dilated cardiomyopathy | GARD:21452 | MONDO:equivalentTo | Non-familial rare disease with dilated cardiomyopathy | | | -| MONDO:0865761 | hereditary periodic fever syndrome | GARD:21453 | MONDO:equivalentTo | Hereditary periodic fever syndrome | | | -| MONDO:0865762 | pyogenic autoinflammatory syndrome | GARD:21454 | MONDO:equivalentTo | Pyogenic autoinflammatory syndrome | | | -| MONDO:0865763 | granulomatous autoinflammatory syndrome | GARD:21455 | MONDO:equivalentTo | Granulomatous autoinflammatory syndrome | | | -| MONDO:0865764 | mixed autoinflammatory and autoimmune syndrome | GARD:21456 | MONDO:equivalentTo | Mixed autoinflammatory and autoimmune syndrome | | | -| MONDO:0865765 | unclassified autoinflammatory syndrome | GARD:21457 | MONDO:equivalentTo | Unclassified autoinflammatory syndrome | | | -| MONDO:0865766 | periodic fever syndrome of childhood | GARD:21458 | MONDO:equivalentTo | Periodic fever syndrome of childhood | | | -| MONDO:0865767 | pyogenic autoinflammatory syndrome of childhood | GARD:21459 | MONDO:equivalentTo | Pyogenic autoinflammatory syndrome of childhood | | | -| MONDO:0865768 | localized epidermolysis bullosa simplex | GARD:2146 | MONDO:equivalentTo | Localized epidermolysis bullosa simplex | | | -| MONDO:0865769 | granulomatous autoinflammatory syndrome of childhood | GARD:21460 | MONDO:equivalentTo | Granulomatous autoinflammatory syndrome of childhood | | | -| MONDO:0865770 | unclassified autoinflammatory syndrome of childhood | GARD:21461 | MONDO:equivalentTo | Unclassified autoinflammatory syndrome of childhood | | | -| MONDO:0865771 | unexplained periodic fever syndrome of childhood | GARD:21462 | MONDO:equivalentTo | Unexplained periodic fever syndrome of childhood | | | -| MONDO:0865772 | 46,xx disorder of gonadal development | GARD:21463 | MONDO:equivalentTo | 46,XX disorder of gonadal development | | | -| MONDO:0865773 | 46,xx disorder of sex development induced by fetoplacental androgens excess | GARD:21464 | MONDO:equivalentTo | 46,XX disorder of sex development induced by fetoplacental androgens excess | | | -| MONDO:0865774 | 46,xx disorder of sex development induced by endogenous maternal-derived androgen | GARD:21465 | MONDO:equivalentTo | 46,XX disorder of sex development induced by endogenous maternal-derived androgen | | | -| MONDO:0865775 | 46,xx disorder of sex development induced by exogenous maternal-derived androgen | GARD:21466 | MONDO:equivalentTo | 46,XX disorder of sex development induced by exogenous maternal-derived androgen | | | -| MONDO:0865776 | syndrome with 46,xx disorder of sex development | GARD:21467 | MONDO:equivalentTo | Syndrome with 46,XX disorder of sex development | | | -| MONDO:0865777 | 46,xy disorder of gonadal development | GARD:21468 | MONDO:equivalentTo | 46,XY disorder of gonadal development | | | -| MONDO:0865778 | 46,xy ovotesticular disorder of sex development | GARD:21469 | MONDO:equivalentTo | 46,XY ovotesticular disorder of sex development | | | -| MONDO:0865779 | autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | GARD:2147 | MONDO:equivalentTo | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | | | -| MONDO:0865780 | 46,xy disorder of sex development of endocrine origin | GARD:21470 | MONDO:equivalentTo | 46,XY disorder of sex development of endocrine origin | | | -| MONDO:0865781 | 46,xy disorder of sex development due to impaired androgen production | GARD:21471 | MONDO:equivalentTo | 46,XY disorder of sex development due to impaired androgen production | | | -| MONDO:0865782 | 46,xy disorder of sex development due to a cholesterol synthesis defect | GARD:21472 | MONDO:equivalentTo | 46,XY disorder of sex development due to a cholesterol synthesis defect | | | -| MONDO:0865783 | classic congenital lipoid adrenal hyperplasia due to star deficency | GARD:21473 | MONDO:equivalentTo | Classic congenital lipoid adrenal hyperplasia due to STAR deficency | | | -| MONDO:0865784 | non-classic congenital lipoid adrenal hyperplasia due to star deficency | GARD:21474 | MONDO:equivalentTo | Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency | | | -| MONDO:0865785 | 46,xy disorder of sex development induced by maternal exposure to endocrine disruptors | GARD:21475 | MONDO:equivalentTo | 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors | | | -| MONDO:0865786 | sex chromosome disorder of sex development | GARD:21476 | MONDO:equivalentTo | Sex chromosome disorder of sex development | | | -| MONDO:0865787 | disorder of sex development of gynecological interest | GARD:21477 | MONDO:equivalentTo | Disorder of sex development of gynecological interest | | | -| MONDO:0865788 | 46,xy disorder of sex development of gynecological interest | GARD:21478 | MONDO:equivalentTo | 46,XY disorder of sex development of gynecological interest | | | -| MONDO:0865789 | syndrome with disorder of sex development of gynecological interest | GARD:21479 | MONDO:equivalentTo | Syndrome with disorder of sex development of gynecological interest | | | -| MONDO:0865790 | plec-related intermediate epidermolysis bullosa simplex without extracutaneous involvement | GARD:2148 | MONDO:equivalentTo | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement | | | -| MONDO:0865791 | genetic disorder of sex development of gynecological interest | GARD:21480 | MONDO:equivalentTo | Genetic disorder of sex development of gynecological interest | | | -| MONDO:0865792 | genetic disorder of sex development | GARD:21481 | MONDO:equivalentTo | Genetic disorder of sex development | | | -| MONDO:0865793 | genetic 46,xx disorder of sex development | GARD:21482 | MONDO:equivalentTo | Genetic 46,XX disorder of sex development | | | -| MONDO:0865794 | genetic 46,xy disorder of sex development | GARD:21483 | MONDO:equivalentTo | Genetic 46,XY disorder of sex development | | | -| MONDO:0865795 | genetic 46,xy disorder of sex development of endocrine origin | GARD:21484 | MONDO:equivalentTo | Genetic 46,XY disorder of sex development of endocrine origin | | | -| MONDO:0865796 | cerebral sinovenous thrombosis | GARD:21485 | MONDO:equivalentTo | Cerebral sinovenous thrombosis | | | -| MONDO:0865797 | severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency | GARD:21486 | MONDO:equivalentTo | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | | | -| MONDO:0865798 | thrombocythemia with distal limb defects | GARD:21487 | MONDO:equivalentTo | Thrombocythemia with distal limb defects | | | -| MONDO:0865799 | inverse klippel-trénaunay syndrome | GARD:21488 | MONDO:equivalentTo | Inverse Klippel-Trénaunay syndrome | | | -| MONDO:0865800 | autosomal recessive frontotemporal pachygyria | GARD:21489 | MONDO:equivalentTo | Autosomal recessive frontotemporal pachygyria | | | -| MONDO:0865801 | acute megakaryoblastic leukemia without down syndrome | GARD:21490 | MONDO:equivalentTo | Acute megakaryoblastic leukemia without Down syndrome | | | -| MONDO:0865802 | spastic paraplegia-paget disease of bone syndrome | GARD:21491 | MONDO:equivalentTo | Spastic paraplegia-Paget disease of bone syndrome | | | -| MONDO:0865803 | adult-onset distal myopathy due to vcp mutation | GARD:21492 | MONDO:equivalentTo | Adult-onset distal myopathy due to VCP mutation | | | -| MONDO:0865804 | mosaic genome-wide paternal uniparental disomy | GARD:21493 | MONDO:equivalentTo | Mosaic genome-wide paternal uniparental disomy | | | -| MONDO:0865805 | idiopathic giant cell myocarditis | GARD:21494 | MONDO:equivalentTo | Idiopathic giant cell myocarditis | | | -| MONDO:0865806 | non-hypoproteinemic hypertrophic gastropathy | GARD:21495 | MONDO:equivalentTo | Non-hypoproteinemic hypertrophic gastropathy | | | -| MONDO:0865807 | juvenile idiopathic inflammatory myopathy | GARD:21496 | MONDO:equivalentTo | Juvenile idiopathic inflammatory myopathy | | | -| MONDO:0865808 | juvenile overlap myositis | GARD:21497 | MONDO:equivalentTo | Juvenile overlap myositis | | | -| MONDO:0865809 | transient neonatal multiple acyl-coa dehydrogenase deficiency | GARD:21498 | MONDO:equivalentTo | Transient neonatal multiple acyl-CoA dehydrogenase deficiency | | | -| MONDO:0865810 | intermittent hydrarthrosis | GARD:21499 | MONDO:equivalentTo | Intermittent hydrarthrosis | | | -| MONDO:0865811 | familial caudal dysgenesis | GARD:215 | MONDO:equivalentTo | Familial caudal dysgenesis | | | -| MONDO:0865812 | dystrophic epidermolysis bullosa | GARD:2150 | MONDO:equivalentTo | Dystrophic epidermolysis bullosa | | | -| MONDO:0865813 | classic neuroendocrine tumor of appendix | GARD:21500 | MONDO:equivalentTo | Classic neuroendocrine tumor of appendix | | | -| MONDO:0865814 | wild type attr amyloidosis | GARD:21501 | MONDO:equivalentTo | Wild type ATTR amyloidosis | | | -| MONDO:0865815 | high altitude pulmonary edema | GARD:21502 | MONDO:equivalentTo | High altitude pulmonary edema | | | -| MONDO:0865816 | lead poisoning | GARD:21503 | MONDO:equivalentTo | Lead poisoning | | | -| MONDO:0865817 | hypotrichosis-deafness syndrome | GARD:21504 | MONDO:equivalentTo | Hypotrichosis-deafness syndrome | | | -| MONDO:0865818 | hemoglobin lepore-beta-thalassemia syndrome | GARD:21505 | MONDO:equivalentTo | Hemoglobin Lepore-beta-thalassemia syndrome | | | -| MONDO:0865819 | chronic actinic dermatitis | GARD:21506 | MONDO:equivalentTo | Chronic actinic dermatitis | | | -| MONDO:0865820 | genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability | GARD:21507 | MONDO:equivalentTo | Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability | | | -| MONDO:0865821 | constitutional neutropenia with extra-hematopoietic manifestations | GARD:21508 | MONDO:equivalentTo | Constitutional neutropenia with extra-hematopoietic manifestations | | | -| MONDO:0865822 | other immunodeficiency syndromes due to defects in innate immunity | GARD:21509 | MONDO:equivalentTo | Other immunodeficiency syndromes due to defects in innate immunity | | | -| MONDO:0865823 | syndrome with combined immunodeficiency | GARD:21510 | MONDO:equivalentTo | Syndrome with combined immunodeficiency | | | -| MONDO:0865824 | immunodeficiency due to absence of thymus | GARD:21511 | MONDO:equivalentTo | Immunodeficiency due to absence of thymus | | | -| MONDO:0865825 | immunodeficiency with isotype or light chain deficiencies with normal number of b-cells | GARD:21512 | MONDO:equivalentTo | Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells | | | -| MONDO:0865826 | immunodeficiency with severe reduction in serum igg and iga with normal/elevated igm and normal number of b-cells | GARD:21513 | MONDO:equivalentTo | Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells | | | -| MONDO:0865827 | other immunodeficiency syndrome with predominantly antibody defects | GARD:21514 | MONDO:equivalentTo | Other immunodeficiency syndrome with predominantly antibody defects | | | -| MONDO:0865828 | immunodeficiency syndrome with hypopigmentation | GARD:21515 | MONDO:equivalentTo | Immunodeficiency syndrome with hypopigmentation | | | -| MONDO:0865829 | disorder of phospholipids, sphingolipids and fatty acids biosynthesis | GARD:21516 | MONDO:equivalentTo | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis | | | -| MONDO:0865830 | disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement | GARD:21517 | MONDO:equivalentTo | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement | | | -| MONDO:0865831 | disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement | GARD:21518 | MONDO:equivalentTo | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement | | | -| MONDO:0865832 | disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement | GARD:21519 | MONDO:equivalentTo | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement | | | -| MONDO:0865833 | junctional epidermolysis bullosa | GARD:2152 | MONDO:equivalentTo | Junctional epidermolysis bullosa | | | -| MONDO:0865834 | mitochondrial dna maintenance syndrome | GARD:21520 | MONDO:equivalentTo | Mitochondrial DNA maintenance syndrome | | | -| MONDO:0865835 | intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | GARD:21521 | MONDO:equivalentTo | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | | | -| MONDO:0865836 | focal epilepsy-intellectual disability-cerebro-cerebellar malformation | GARD:21522 | MONDO:equivalentTo | Focal epilepsy-intellectual disability-cerebro-cerebellar malformation | | | -| MONDO:0865837 | 16q24.1 microdeletion syndrome | GARD:21523 | MONDO:equivalentTo | 16q24.1 microdeletion syndrome | | | -| MONDO:0865838 | phalangeal microgeodic syndrome | GARD:21524 | MONDO:equivalentTo | Phalangeal microgeodic syndrome | | | -| MONDO:0865839 | autosomal recessive cerebellar ataxia with late-onset spasticity | GARD:21525 | MONDO:equivalentTo | Autosomal recessive cerebellar ataxia with late-onset spasticity | | | -| MONDO:0865840 | neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | GARD:21526 | MONDO:equivalentTo | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | -| MONDO:0865841 | attenuated chédiak-higashi syndrome | GARD:21527 | MONDO:equivalentTo | Attenuated Chédiak-Higashi syndrome | | | -| MONDO:0865842 | disorder of melanin metabolism | GARD:21528 | MONDO:equivalentTo | Disorder of melanin metabolism | | | -| MONDO:0865843 | minimal pigment oculocutaneous albinism type 1 | GARD:21529 | MONDO:equivalentTo | Minimal pigment oculocutaneous albinism type 1 | | | -| MONDO:0865844 | severe generalized junctional epidermolysis bullosa | GARD:2153 | MONDO:equivalentTo | Severe generalized junctional epidermolysis bullosa | | | -| MONDO:0865845 | congenital retinal arteriovenous communication | GARD:21530 | MONDO:equivalentTo | Congenital retinal arteriovenous communication | | | -| MONDO:0865846 | idiopathic macular telangiectasia type 1 | GARD:21531 | MONDO:equivalentTo | Idiopathic macular telangiectasia type 1 | | | -| MONDO:0865847 | idiopathic macular telangiectasia type 3 | GARD:21532 | MONDO:equivalentTo | Idiopathic macular telangiectasia type 3 | | | -| MONDO:0865848 | vasoproliferative tumor of the retina | GARD:21533 | MONDO:equivalentTo | Vasoproliferative tumor of the retina | | | -| MONDO:0865849 | 3q26q27 microdeletion syndrome | GARD:21534 | MONDO:equivalentTo | 3q26q27 microdeletion syndrome | | | -| MONDO:0865850 | arterial thoracic outlet syndrome | GARD:21535 | MONDO:equivalentTo | Arterial thoracic outlet syndrome | | | -| MONDO:0865851 | venous thoracic outlet syndrome | GARD:21536 | MONDO:equivalentTo | Venous thoracic outlet syndrome | | | -| MONDO:0865852 | primary essential cutis verticis gyrata | GARD:21537 | MONDO:equivalentTo | Primary essential cutis verticis gyrata | | | -| MONDO:0865853 | primary non-essential cutis verticis gyrata | GARD:21538 | MONDO:equivalentTo | Primary non-essential cutis verticis gyrata | | | -| MONDO:0865854 | idiopathic nephrotic syndrome | GARD:21539 | MONDO:equivalentTo | Idiopathic nephrotic syndrome | | | -| MONDO:0865855 | genetic non-syndromic renal or urinary tract malformation | GARD:21540 | MONDO:equivalentTo | Genetic non-syndromic renal or urinary tract malformation | | | -| MONDO:0865856 | congenital anomaly of the great veins | GARD:21541 | MONDO:equivalentTo | Congenital anomaly of the great veins | | | -| MONDO:0865857 | ring chromosome | GARD:21542 | MONDO:equivalentTo | Ring chromosome | | | -| MONDO:0865858 | genetic progeroid syndrome | GARD:21543 | MONDO:equivalentTo | Genetic progeroid syndrome | | | -| MONDO:0865859 | ciliopathy | GARD:21544 | MONDO:equivalentTo | Ciliopathy | | | -| MONDO:0865860 | genetic syndromic pierre robin syndrome | GARD:21545 | MONDO:equivalentTo | Genetic syndromic Pierre Robin syndrome | | | -| MONDO:0865861 | genetic intractable diarrhea of infancy | GARD:21546 | MONDO:equivalentTo | Genetic intractable diarrhea of infancy | | | -| MONDO:0865862 | genetic intestinal disease due to fat malabsorption | GARD:21547 | MONDO:equivalentTo | Genetic intestinal disease due to fat malabsorption | | | -| MONDO:0865863 | genetic intestinal polyposis | GARD:21548 | MONDO:equivalentTo | Genetic intestinal polyposis | | | -| MONDO:0865864 | tumor of testis and paratestis | GARD:21549 | MONDO:equivalentTo | Tumor of testis and paratestis | | | -| MONDO:0865865 | localized dystrophic epidermolysis bullosa, pretibial form | GARD:2155 | MONDO:equivalentTo | Localized dystrophic epidermolysis bullosa, pretibial form | | | -| MONDO:0865866 | paratesticular adenocarcinoma | GARD:21550 | MONDO:equivalentTo | Paratesticular adenocarcinoma | | | -| MONDO:0865867 | sex cord-stromal tumor of testis | GARD:21551 | MONDO:equivalentTo | Sex cord-stromal tumor of testis | | | -| MONDO:0865868 | acute encephalopathy with biphasic seizures and late reduced diffusion | GARD:21552 | MONDO:equivalentTo | Acute encephalopathy with biphasic seizures and late reduced diffusion | | | -| MONDO:0865869 | acute encephalopathy with inflammation-mediated status epilepticus | GARD:21553 | MONDO:equivalentTo | Acute encephalopathy with inflammation-mediated status epilepticus | | | -| MONDO:0865870 | gonadal germ cell tumor | GARD:21554 | MONDO:equivalentTo | Gonadal germ cell tumor | | | -| MONDO:0865871 | lmna-related cardiocutaneous progeria syndrome | GARD:21555 | MONDO:equivalentTo | LMNA-related cardiocutaneous progeria syndrome | | | -| MONDO:0865872 | 20q11.2 microduplication syndrome | GARD:21556 | MONDO:equivalentTo | 20q11.2 microduplication syndrome | | | -| MONDO:0865873 | 2p13.2 microdeletion syndrome | GARD:21557 | MONDO:equivalentTo | 2p13.2 microdeletion syndrome | | | -| MONDO:0865874 | balint syndrome | GARD:21558 | MONDO:equivalentTo | Balint syndrome | | | -| MONDO:0865875 | koolen-de vries syndrome due to a point mutation | GARD:21559 | MONDO:equivalentTo | Koolen-De Vries syndrome due to a point mutation | | | -| MONDO:0865876 | autosomal recessive cerebral atrophy | GARD:21560 | MONDO:equivalentTo | Autosomal recessive cerebral atrophy | | | -| MONDO:0865877 | immune hydrops fetalis | GARD:21561 | MONDO:equivalentTo | Immune hydrops fetalis | | | -| MONDO:0865878 | systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood | GARD:21562 | MONDO:equivalentTo | Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood | | | -| MONDO:0865879 | hydroa vacciniforme-like lymphoma | GARD:21563 | MONDO:equivalentTo | Hydroa vacciniforme-like lymphoma | | | -| MONDO:0865880 | alk-positive large b-cell lymphoma | GARD:21564 | MONDO:equivalentTo | ALK-positive large B-cell lymphoma | | | -| MONDO:0865881 | severe early-childhood-onset retinal dystrophy | GARD:21565 | MONDO:equivalentTo | Severe early-childhood-onset retinal dystrophy | | | -| MONDO:0865882 | bipartite talus | GARD:21566 | MONDO:equivalentTo | Bipartite talus | | | -| MONDO:0865883 | primary bone dysplasia | GARD:21567 | MONDO:equivalentTo | Primary bone dysplasia | | | -| MONDO:0865884 | primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments | GARD:21568 | MONDO:equivalentTo | Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments | | | -| MONDO:0865885 | primary bone dysplasia with micromelia | GARD:21569 | MONDO:equivalentTo | Primary bone dysplasia with micromelia | | | -| MONDO:0865886 | otopalatodigital syndrome spectrum disorder | GARD:21570 | MONDO:equivalentTo | Otopalatodigital syndrome spectrum disorder | | | -| MONDO:0865887 | dysostosis | GARD:21571 | MONDO:equivalentTo | Dysostosis | | | -| MONDO:0865888 | dysostosis with limb anomaly as a major feature | GARD:21572 | MONDO:equivalentTo | Dysostosis with limb anomaly as a major feature | | | -| MONDO:0865889 | dysostosis with limb and face anomalies as a major feature | GARD:21573 | MONDO:equivalentTo | Dysostosis with limb and face anomalies as a major feature | | | -| MONDO:0865890 | acrofacial dysostosis | GARD:21574 | MONDO:equivalentTo | Acrofacial dysostosis | | | -| MONDO:0865891 | rare bone disease related to a common gene or pathway defect | GARD:21575 | MONDO:equivalentTo | Rare bone disease related to a common gene or pathway defect | | | -| MONDO:0865892 | aggrecan-related bone disorder | GARD:21576 | MONDO:equivalentTo | Aggrecan-related bone disorder | | | -| MONDO:0865893 | trpv4-related bone disorder | GARD:21577 | MONDO:equivalentTo | TRPV4-related bone disorder | | | -| MONDO:0865894 | primary short bowel syndrome | GARD:21578 | MONDO:equivalentTo | Primary short bowel syndrome | | | -| MONDO:0865895 | intellectual disability-hyperkinetic movement-truncal ataxia syndrome | GARD:21579 | MONDO:equivalentTo | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | | | -| MONDO:0865896 | obesity due to sim1 deficiency | GARD:21580 | MONDO:equivalentTo | Obesity due to SIM1 deficiency | | | -| MONDO:0865897 | 2p21 microdeletion syndrome without cystinuria | GARD:21581 | MONDO:equivalentTo | 2p21 microdeletion syndrome without cystinuria | | | -| MONDO:0865898 | homozygous 2p21 microdeletion syndrome | GARD:21582 | MONDO:equivalentTo | Homozygous 2p21 microdeletion syndrome | | | -| MONDO:0865899 | intellectual disability-seizures-macrocephaly-obesity syndrome | GARD:21583 | MONDO:equivalentTo | Intellectual disability-seizures-macrocephaly-obesity syndrome | | | -| MONDO:0865900 | finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome | GARD:21584 | MONDO:equivalentTo | Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome | | | -| MONDO:0865901 | intellectual disability-facial dysmorphism-hand anomalies syndrome | GARD:21585 | MONDO:equivalentTo | Intellectual disability-facial dysmorphism-hand anomalies syndrome | | | -| MONDO:0865902 | spondyloepimetaphyseal dysplasia, isidor type | GARD:21586 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia, Isidor type | | | -| MONDO:0865903 | spondylometaphyseal dysplasia, czarny-ratajczak type | GARD:21587 | MONDO:equivalentTo | Spondylometaphyseal dysplasia, Czarny-Ratajczak type | | | -| MONDO:0865904 | acute myeloid leukemia with t(8;16)(p11;p13) translocation | GARD:21588 | MONDO:equivalentTo | Acute myeloid leukemia with t(8;16)(p11;p13) translocation | | | -| MONDO:0865905 | familial syringomyelia | GARD:21589 | MONDO:equivalentTo | Familial syringomyelia | | | -| MONDO:0865906 | angora hair nevus | GARD:21590 | MONDO:equivalentTo | Angora hair nevus | | | -| MONDO:0865907 | didymosis aplasticosebacea | GARD:21591 | MONDO:equivalentTo | Didymosis aplasticosebacea | | | -| MONDO:0865908 | scalp syndrome | GARD:21592 | MONDO:equivalentTo | SCALP syndrome | | | -| MONDO:0865909 | nevada syndrome | GARD:21593 | MONDO:equivalentTo | NEVADA syndrome | | | -| MONDO:0865910 | fetal anticonvulsant syndrome | GARD:21594 | MONDO:equivalentTo | Fetal anticonvulsant syndrome | | | -| MONDO:0865911 | fetal carbamazepine syndrome | GARD:21595 | MONDO:equivalentTo | Fetal carbamazepine syndrome | | | -| MONDO:0865912 | rare disorder with dystonia and other neurologic or systemic manifestation | GARD:21596 | MONDO:equivalentTo | Rare disorder with dystonia and other neurologic or systemic manifestation | | | -| MONDO:0865913 | ataxia-telangiectasia variant | GARD:21597 | MONDO:equivalentTo | Ataxia-telangiectasia variant | | | -| MONDO:0865914 | medich giant platelet syndrome | GARD:21598 | MONDO:equivalentTo | Medich giant platelet syndrome | | | -| MONDO:0865915 | xylt1-cdg | GARD:21599 | MONDO:equivalentTo | XYLT1-CDG | | | -| MONDO:0865916 | camptodactyly-joint contractures-facial skeletal defects syndrome | GARD:216 | MONDO:equivalentTo | Camptodactyly-joint contractures-facial skeletal defects syndrome | | | -| MONDO:0865917 | congenital muscular dystrophy with hyperlaxity | GARD:21600 | MONDO:equivalentTo | Congenital muscular dystrophy with hyperlaxity | | | -| MONDO:0865918 | qualitative or quantitative defects of alpha-dystroglycan | GARD:21601 | MONDO:equivalentTo | Qualitative or quantitative defects of alpha-dystroglycan | | | -| MONDO:0865919 | primary qualitative or quantitative defects of alpha-dystroglycan | GARD:21602 | MONDO:equivalentTo | Primary qualitative or quantitative defects of alpha-dystroglycan | | | -| MONDO:0865920 | congenital disorder of glycosylation with neurological involvement | GARD:21603 | MONDO:equivalentTo | Congenital disorder of glycosylation with neurological involvement | | | -| MONDO:0865921 | congenital disorder of glycosylation with epilepsy as a major feature | GARD:21604 | MONDO:equivalentTo | Congenital disorder of glycosylation with epilepsy as a major feature | | | -| MONDO:0865922 | congenital disorder of glycosylation with hepatic involvement | GARD:21605 | MONDO:equivalentTo | Congenital disorder of glycosylation with hepatic involvement | | | -| MONDO:0865923 | congenital disorder of glycosylation with dilated cardiomyopathy | GARD:21606 | MONDO:equivalentTo | Congenital disorder of glycosylation with dilated cardiomyopathy | | | -| MONDO:0865924 | congenital disorder of glycosylation with cardiac malformation as a major feature | GARD:21607 | MONDO:equivalentTo | Congenital disorder of glycosylation with cardiac malformation as a major feature | | | -| MONDO:0865925 | congenital disorder of glycosylation with intestinal involvement | GARD:21608 | MONDO:equivalentTo | Congenital disorder of glycosylation with intestinal involvement | | | -| MONDO:0865926 | congenital disorder of glycosylation-related bone disorder | GARD:21609 | MONDO:equivalentTo | Congenital disorder of glycosylation-related bone disorder | | | -| MONDO:0865927 | congenital disorder of glycosylation with skin involvement | GARD:21610 | MONDO:equivalentTo | Congenital disorder of glycosylation with skin involvement | | | -| MONDO:0865928 | congenital disorder of glycosylation with nephropathy as a major feature | GARD:21611 | MONDO:equivalentTo | Congenital disorder of glycosylation with nephropathy as a major feature | | | -| MONDO:0865929 | congenital disorder of glycosylation with deafness as a major feature | GARD:21612 | MONDO:equivalentTo | Congenital disorder of glycosylation with deafness as a major feature | | | -| MONDO:0865930 | genetic periodic paralysis | GARD:21613 | MONDO:equivalentTo | Genetic periodic paralysis | | | -| MONDO:0865931 | genetic neurovascular malformation | GARD:21614 | MONDO:equivalentTo | Genetic neurovascular malformation | | | -| MONDO:0865932 | sphingolipidosis with epilepsy | GARD:21615 | MONDO:equivalentTo | Sphingolipidosis with epilepsy | | | -| MONDO:0865933 | genetic syndromic esophageal malformation | GARD:21616 | MONDO:equivalentTo | Genetic syndromic esophageal malformation | | | -| MONDO:0865934 | genetic hyperaldosteronism | GARD:21617 | MONDO:equivalentTo | Genetic hyperaldosteronism | | | -| MONDO:0865935 | generalized isolated dystonia | GARD:21618 | MONDO:equivalentTo | Generalized isolated dystonia | | | -| MONDO:0865936 | infantile-onset mesial temporal lobe epilepsy with severe cognitive regression | GARD:21619 | MONDO:equivalentTo | Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression | | | -| MONDO:0865937 | juvenile absence epilepsy | GARD:2162 | MONDO:equivalentTo | Juvenile absence epilepsy | | | -| MONDO:0865938 | fatal post-viral neurodegenerative disorder | GARD:21620 | MONDO:equivalentTo | Fatal post-viral neurodegenerative disorder | | | -| MONDO:0865939 | growth retardation-mild developmental delay-chronic hepatitis syndrome | GARD:21621 | MONDO:equivalentTo | Growth retardation-mild developmental delay-chronic hepatitis syndrome | | | -| MONDO:0865940 | disorder of asparagine metabolism | GARD:21622 | MONDO:equivalentTo | Disorder of asparagine metabolism | | | -| MONDO:0865941 | adult-onset myasthenia gravis | GARD:21623 | MONDO:equivalentTo | Adult-onset myasthenia gravis | | | -| MONDO:0865942 | juvenile myasthenia gravis | GARD:21624 | MONDO:equivalentTo | Juvenile myasthenia gravis | | | -| MONDO:0865943 | transient neonatal myasthenia gravis | GARD:21625 | MONDO:equivalentTo | Transient neonatal myasthenia gravis | | | -| MONDO:0865944 | glomus tumor | GARD:21626 | MONDO:equivalentTo | Glomus tumor | | | -| MONDO:0865945 | off-periods in parkinson disease not responding to oral treatment | GARD:21627 | MONDO:equivalentTo | Off-periods in Parkinson disease not responding to oral treatment | | | -| MONDO:0865946 | persistent combined dystonia | GARD:21628 | MONDO:equivalentTo | Persistent combined dystonia | | | -| MONDO:0865947 | mucinous adenocarcinoma of the appendix | GARD:21629 | MONDO:equivalentTo | Mucinous adenocarcinoma of the appendix | | | -| MONDO:0865948 | rare genetic dystonia | GARD:21630 | MONDO:equivalentTo | Rare genetic dystonia | | | -| MONDO:0865949 | deep dermatophytosis | GARD:21631 | MONDO:equivalentTo | Deep dermatophytosis | | | -| MONDO:0865950 | prp systemic amyloidosis | GARD:21632 | MONDO:equivalentTo | PrP systemic amyloidosis | | | -| MONDO:0865951 | 3q27.3 microdeletion syndrome | GARD:21633 | MONDO:equivalentTo | 3q27.3 microdeletion syndrome | | | -| MONDO:0865952 | periodic paralysis with later-onset distal motor neuropathy | GARD:21634 | MONDO:equivalentTo | Periodic paralysis with later-onset distal motor neuropathy | | | -| MONDO:0865953 | periodic paralysis with transient compartment-like syndrome | GARD:21635 | MONDO:equivalentTo | Periodic paralysis with transient compartment-like syndrome | | | -| MONDO:0865954 | t+ b+ severe combined immunodeficiency | GARD:21636 | MONDO:equivalentTo | T+ B+ severe combined immunodeficiency | | | -| MONDO:0865955 | ferro-cerebro-cutaneous syndrome | GARD:21637 | MONDO:equivalentTo | Ferro-cerebro-cutaneous syndrome | | | -| MONDO:0865956 | adenocarcinoma of the penis | GARD:21638 | MONDO:equivalentTo | Adenocarcinoma of the penis | | | -| MONDO:0865957 | squamous cell carcinoma of the penis | GARD:21639 | MONDO:equivalentTo | Squamous cell carcinoma of the penis | | | -| MONDO:0865958 | refractory celiac disease | GARD:21640 | MONDO:equivalentTo | Refractory celiac disease | | | -| MONDO:0865959 | prader-willi-like syndrome | GARD:21641 | MONDO:equivalentTo | Prader-Willi-like syndrome | | | -| MONDO:0865960 | sim1-related prader-willi-like syndrome | GARD:21642 | MONDO:equivalentTo | SIM1-related Prader-Willi-like syndrome | | | -| MONDO:0865961 | secondary neonatal autoimmune disease | GARD:21643 | MONDO:equivalentTo | Secondary neonatal autoimmune disease | | | -| MONDO:0865962 | neonatal antiphospholipid syndrome | GARD:21644 | MONDO:equivalentTo | Neonatal antiphospholipid syndrome | | | -| MONDO:0865963 | neonatal autoimmune hemolytic anemia | GARD:21645 | MONDO:equivalentTo | Neonatal autoimmune hemolytic anemia | | | -| MONDO:0865964 | neonatal dermatomyositis | GARD:21646 | MONDO:equivalentTo | Neonatal dermatomyositis | | | -| MONDO:0865965 | neonatal lupus erythematosus | GARD:21647 | MONDO:equivalentTo | Neonatal lupus erythematosus | | | -| MONDO:0865966 | neonatal scleroderma | GARD:21648 | MONDO:equivalentTo | Neonatal scleroderma | | | -| MONDO:0865967 | persistent idiopathic facial pain | GARD:21649 | MONDO:equivalentTo | Persistent idiopathic facial pain | | | -| MONDO:0865968 | malignant non-epithelial tumor of ovary | GARD:21650 | MONDO:equivalentTo | Malignant non-epithelial tumor of ovary | | | -| MONDO:0865969 | mucinous adenocarcinoma of ovary | GARD:21651 | MONDO:equivalentTo | Mucinous adenocarcinoma of ovary | | | -| MONDO:0865970 | clear cell adenocarcinoma of the ovary | GARD:21652 | MONDO:equivalentTo | Clear cell adenocarcinoma of the ovary | | | -| MONDO:0865971 | primary peritoneal serous/papillary carcinoma | GARD:21653 | MONDO:equivalentTo | Primary peritoneal serous/papillary carcinoma | | | -| MONDO:0865972 | malignant teratoma of ovary | GARD:21654 | MONDO:equivalentTo | Malignant teratoma of ovary | | | -| MONDO:0865973 | klhl9-related early-onset distal myopathy | GARD:21655 | MONDO:equivalentTo | KLHL9-related early-onset distal myopathy | | | -| MONDO:0865974 | distal nebulin myopathy | GARD:21656 | MONDO:equivalentTo | Distal nebulin myopathy | | | -| MONDO:0865975 | osteonecrosis | GARD:21657 | MONDO:equivalentTo | Osteonecrosis | | | -| MONDO:0865976 | avascular necrosis | GARD:21658 | MONDO:equivalentTo | Avascular necrosis | | | -| MONDO:0865977 | secondary avascular necrosis | GARD:21659 | MONDO:equivalentTo | Secondary avascular necrosis | | | -| MONDO:0865978 | celiac disease-epilepsy-cerebral calcification syndrome | GARD:2166 | MONDO:equivalentTo | Celiac disease-epilepsy-cerebral calcification syndrome | | | -| MONDO:0865979 | traumatic avascular necrosis | GARD:21660 | MONDO:equivalentTo | Traumatic avascular necrosis | | | -| MONDO:0865980 | secondary non-traumatic avascular necrosis | GARD:21661 | MONDO:equivalentTo | Secondary non-traumatic avascular necrosis | | | -| MONDO:0865981 | rare hereditary disease with avascular necrosis | GARD:21662 | MONDO:equivalentTo | Rare hereditary disease with avascular necrosis | | | -| MONDO:0865982 | osteonecrosis of the jaw | GARD:21663 | MONDO:equivalentTo | Osteonecrosis of the jaw | | | -| MONDO:0865983 | primary avascular necrosis | GARD:21664 | MONDO:equivalentTo | Primary avascular necrosis | | | -| MONDO:0865984 | idiopathic avascular necrosis | GARD:21665 | MONDO:equivalentTo | Idiopathic avascular necrosis | | | -| MONDO:0865985 | epiphysiolysis of the hip | GARD:21666 | MONDO:equivalentTo | Epiphysiolysis of the hip | | | -| MONDO:0865986 | osteonecrosis of genetic origin | GARD:21667 | MONDO:equivalentTo | Osteonecrosis of genetic origin | | | -| MONDO:0865987 | avascular necrosis of genetic origin | GARD:21668 | MONDO:equivalentTo | Avascular necrosis of genetic origin | | | -| MONDO:0865988 | osteochondrosis of genetic origin | GARD:21669 | MONDO:equivalentTo | Osteochondrosis of genetic origin | | | -| MONDO:0865989 | progressive myoclonic epilepsy type 3 | GARD:2167 | MONDO:equivalentTo | Progressive myoclonic epilepsy type 3 | | | -| MONDO:0865990 | rare male infertility due to hypothalamic-pituitary-gonadal axis disorder | GARD:21670 | MONDO:equivalentTo | Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder | | | -| MONDO:0865991 | rare male infertility due to adrenal disorder | GARD:21671 | MONDO:equivalentTo | Rare male infertility due to adrenal disorder | | | -| MONDO:0865992 | rare male infertility due to testicular endocrine disorder | GARD:21672 | MONDO:equivalentTo | Rare male infertility due to testicular endocrine disorder | | | -| MONDO:0865993 | male infertility due to gonadal dysgenesis or sperm disorder | GARD:21673 | MONDO:equivalentTo | Male infertility due to gonadal dysgenesis or sperm disorder | | | -| MONDO:0865994 | male infertility due to sperm disorder | GARD:21674 | MONDO:equivalentTo | Male infertility due to sperm disorder | | | -| MONDO:0865995 | male infertility with spermatogenesis disorder | GARD:21675 | MONDO:equivalentTo | Male infertility with spermatogenesis disorder | | | -| MONDO:0865996 | male infertility due to sperm motility disorder | GARD:21676 | MONDO:equivalentTo | Male infertility due to sperm motility disorder | | | -| MONDO:0865997 | rare disorder with obstructive azoospermia | GARD:21677 | MONDO:equivalentTo | Rare disorder with obstructive azoospermia | | | -| MONDO:0865998 | rare female infertility due to hypothalamic-pituitary-gonadal axis disorder | GARD:21678 | MONDO:equivalentTo | Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder | | | -| MONDO:0865999 | rare female infertility due to a congenital hypogonadotropic hypogonadism | GARD:21679 | MONDO:equivalentTo | Rare female infertility due to a congenital hypogonadotropic hypogonadism | | | -| MONDO:0866000 | epilepsy-telangiectasia syndrome | GARD:2168 | MONDO:equivalentTo | Epilepsy-telangiectasia syndrome | | | -| MONDO:0866001 | rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism | GARD:21680 | MONDO:equivalentTo | Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism | | | -| MONDO:0866002 | rare female infertility due to an adrenal disorder | GARD:21681 | MONDO:equivalentTo | Rare female infertility due to an adrenal disorder | | | -| MONDO:0866003 | rare female infertility due to an anomaly of ovarian function | GARD:21682 | MONDO:equivalentTo | Rare female infertility due to an anomaly of ovarian function | | | -| MONDO:0866004 | rare female infertility due to gonadal dysgenesis | GARD:21683 | MONDO:equivalentTo | Rare female infertility due to gonadal dysgenesis | | | -| MONDO:0866005 | rare female infertility due to an implantation defect | GARD:21684 | MONDO:equivalentTo | Rare female infertility due to an implantation defect | | | -| MONDO:0866006 | rare genetic male infertility | GARD:21685 | MONDO:equivalentTo | Rare genetic male infertility | | | -| MONDO:0866007 | rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin | GARD:21686 | MONDO:equivalentTo | Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin | | | -| MONDO:0866008 | rare male infertility due to adrenal disorder of genetic origin | GARD:21687 | MONDO:equivalentTo | Rare male infertility due to adrenal disorder of genetic origin | | | -| MONDO:0866009 | male infertility due to obstructive azoospermia of genetic origin | GARD:21688 | MONDO:equivalentTo | Male infertility due to obstructive azoospermia of genetic origin | | | -| MONDO:0866010 | rare genetic disorder with obstructive azoospermia | GARD:21689 | MONDO:equivalentTo | Rare genetic disorder with obstructive azoospermia | | | -| MONDO:0866011 | myoclonic-astatic epilepsy | GARD:2169 | MONDO:equivalentTo | Myoclonic-astatic epilepsy | | | -| MONDO:0866012 | rare genetic female infertility | GARD:21690 | MONDO:equivalentTo | Rare genetic female infertility | | | -| MONDO:0866013 | rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin | GARD:21691 | MONDO:equivalentTo | Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin | | | -| MONDO:0866014 | rare female infertility due to adrenal disorder of genetic origin | GARD:21692 | MONDO:equivalentTo | Rare female infertility due to adrenal disorder of genetic origin | | | -| MONDO:0866015 | rare female infertility due to an anomaly of ovarian function of genetic origin | GARD:21693 | MONDO:equivalentTo | Rare female infertility due to an anomaly of ovarian function of genetic origin | | | -| MONDO:0866016 | female infertility due to an implantation defect of genetic origin | GARD:21694 | MONDO:equivalentTo | Female infertility due to an implantation defect of genetic origin | | | -| MONDO:0866017 | autosomal recessive spastic paraplegia type 59 | GARD:21695 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 59 | | | -| MONDO:0866018 | autosomal recessive spastic paraplegia type 60 | GARD:21696 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 60 | | | -| MONDO:0866019 | autosomal recessive spastic paraplegia type 66 | GARD:21697 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 66 | | | -| MONDO:0866020 | autosomal recessive spastic paraplegia type 67 | GARD:21698 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 67 | | | -| MONDO:0866021 | autosomal recessive spastic paraplegia type 69 | GARD:21699 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 69 | | | -| MONDO:0866022 | benign occipital epilepsy | GARD:2170 | MONDO:equivalentTo | Benign occipital epilepsy | | | -| MONDO:0866023 | autosomal recessive spastic paraplegia type 70 | GARD:21700 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 70 | | | -| MONDO:0866024 | autosomal recessive spastic paraplegia type 71 | GARD:21701 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 71 | | | -| MONDO:0866025 | huntington disease-like syndrome due to c9orf72 expansions | GARD:21702 | MONDO:equivalentTo | Huntington disease-like syndrome due to C9ORF72 expansions | | | -| MONDO:0866026 | axin2-related attenuated familial adenomatous polyposis | GARD:21703 | MONDO:equivalentTo | AXIN2-related attenuated familial adenomatous polyposis | | | -| MONDO:0866027 | fibrolamellar hepatocellular carcinoma | GARD:21704 | MONDO:equivalentTo | Fibrolamellar hepatocellular carcinoma | | | -| MONDO:0866028 | 9q31.1q31.3 microdeletion syndrome | GARD:21705 | MONDO:equivalentTo | 9q31.1q31.3 microdeletion syndrome | | | -| MONDO:0866029 | 14q24.1q24.3 microdeletion syndrome | GARD:21706 | MONDO:equivalentTo | 14q24.1q24.3 microdeletion syndrome | | | -| MONDO:0866030 | partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome | GARD:21707 | MONDO:equivalentTo | Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome | | | -| MONDO:0866031 | cold-induced sweating syndrome-hyperthermia spectrum | GARD:21708 | MONDO:equivalentTo | Cold-induced sweating syndrome-hyperthermia spectrum | | | -| MONDO:0866032 | lichen myxedematosus | GARD:21709 | MONDO:equivalentTo | Lichen myxedematosus | | | -| MONDO:0866033 | acute myeloid leukemia with t(6;9)(p23;q34) | GARD:21710 | MONDO:equivalentTo | Acute myeloid leukemia with t(6;9)(p23;q34) | | | -| MONDO:0866034 | acute myeloid leukemia with t(9;11)(p22;q23) | GARD:21711 | MONDO:equivalentTo | Acute myeloid leukemia with t(9;11)(p22;q23) | | | -| MONDO:0866035 | megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) | GARD:21712 | MONDO:equivalentTo | Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) | | | -| MONDO:0866036 | acute myeloid leukemia with npm1 somatic mutations | GARD:21713 | MONDO:equivalentTo | Acute myeloid leukemia with NPM1 somatic mutations | | | -| MONDO:0866037 | primary eosinophilic gastrointestinal disease | GARD:21714 | MONDO:equivalentTo | Primary eosinophilic gastrointestinal disease | | | -| MONDO:0866038 | eosinophilic colitis | GARD:21715 | MONDO:equivalentTo | Eosinophilic colitis | | | -| MONDO:0866039 | hepatitis delta | GARD:21716 | MONDO:equivalentTo | Hepatitis delta | | | -| MONDO:0866040 | fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome | GARD:21717 | MONDO:equivalentTo | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | | | -| MONDO:0866041 | rare female infertility due to oocyte maturation defect | GARD:21718 | MONDO:equivalentTo | Rare female infertility due to oocyte maturation defect | | | -| MONDO:0866042 | autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome | GARD:21719 | MONDO:equivalentTo | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome | | | -| MONDO:0866043 | chondromyxoid fibroma | GARD:21720 | MONDO:equivalentTo | Chondromyxoid fibroma | | | -| MONDO:0866044 | clear cell papillary renal cell carcinoma | GARD:21721 | MONDO:equivalentTo | Clear cell papillary renal cell carcinoma | | | -| MONDO:0866045 | acquired cystic disease-associated renal cell carcinoma | GARD:21722 | MONDO:equivalentTo | Acquired cystic disease-associated renal cell carcinoma | | | -| MONDO:0866046 | spinal muscular atrophy with respiratory distress type 2 | GARD:21723 | MONDO:equivalentTo | Spinal muscular atrophy with respiratory distress type 2 | | | -| MONDO:0866047 | x-linked distal hereditary motor neuropathy | GARD:21724 | MONDO:equivalentTo | X-linked distal hereditary motor neuropathy | | | -| MONDO:0866048 | dysostosis of genetic origin | GARD:21725 | MONDO:equivalentTo | Dysostosis of genetic origin | | | -| MONDO:0866049 | dysostosis of genetic origin with limb anomaly as a major feature | GARD:21726 | MONDO:equivalentTo | Dysostosis of genetic origin with limb anomaly as a major feature | | | -| MONDO:0866050 | genetic syndrome with limb reduction defects | GARD:21727 | MONDO:equivalentTo | Genetic syndrome with limb reduction defects | | | -| MONDO:0866051 | genetic syndrome with limb malformations as a major feature | GARD:21728 | MONDO:equivalentTo | Genetic syndrome with limb malformations as a major feature | | | -| MONDO:0866052 | polyarticular juvenile idiopathic arthritis | GARD:21729 | MONDO:equivalentTo | Polyarticular juvenile idiopathic arthritis | | | -| MONDO:0866053 | familial partial epilepsy | GARD:2173 | MONDO:equivalentTo | Familial partial epilepsy | | | -| MONDO:0866054 | rare genetic bone development disorder | GARD:21730 | MONDO:equivalentTo | Rare genetic bone development disorder | | | -| MONDO:0866055 | williams-campbell syndrome | GARD:21731 | MONDO:equivalentTo | Williams-Campbell syndrome | | | -| MONDO:0866056 | angelman syndrome due to a point mutation | GARD:21732 | MONDO:equivalentTo | Angelman syndrome due to a point mutation | | | -| MONDO:0866057 | angelman syndrome due to imprinting defect in 15q11-q13 | GARD:21733 | MONDO:equivalentTo | Angelman syndrome due to imprinting defect in 15q11-q13 | | | -| MONDO:0866058 | central retinal vein occlusion | GARD:21734 | MONDO:equivalentTo | Central retinal vein occlusion | | | -| MONDO:0866059 | proton-pump inhibitor-responsive esophageal eosinophilia | GARD:21735 | MONDO:equivalentTo | Proton-pump inhibitor-responsive esophageal eosinophilia | | | -| MONDO:0866060 | generalized eruptive keratoacanthoma | GARD:21736 | MONDO:equivalentTo | Generalized eruptive keratoacanthoma | | | -| MONDO:0866061 | 13q12.3 microdeletion syndrome | GARD:21737 | MONDO:equivalentTo | 13q12.3 microdeletion syndrome | | | -| MONDO:0866062 | prkar1b-related neurodegenerative dementia with intermediate filaments | GARD:21738 | MONDO:equivalentTo | PRKAR1B-related neurodegenerative dementia with intermediate filaments | | | -| MONDO:0866063 | dystonia-aphonia syndrome | GARD:21739 | MONDO:equivalentTo | Dystonia-aphonia syndrome | | | -| MONDO:0866064 | genetic facial cleft | GARD:21740 | MONDO:equivalentTo | Genetic facial cleft | | | -| MONDO:0866065 | carcinoma of esophagus, salivary gland type | GARD:21741 | MONDO:equivalentTo | Carcinoma of esophagus, salivary gland type | | | -| MONDO:0866066 | undifferentiated carcinoma of esophagus | GARD:21742 | MONDO:equivalentTo | Undifferentiated carcinoma of esophagus | | | -| MONDO:0866067 | squamous cell carcinoma of the stomach | GARD:21743 | MONDO:equivalentTo | Squamous cell carcinoma of the stomach | | | -| MONDO:0866068 | secondary pulmonary alveolar proteinosis | GARD:21744 | MONDO:equivalentTo | Secondary pulmonary alveolar proteinosis | | | -| MONDO:0866069 | semicircular canal dehiscence syndrome | GARD:21745 | MONDO:equivalentTo | Semicircular canal dehiscence syndrome | | | -| MONDO:0866070 | glycogen storage disease due to acid maltase deficiency, late-onset | GARD:21746 | MONDO:equivalentTo | Glycogen storage disease due to acid maltase deficiency, late-onset | | | -| MONDO:0866071 | autosomal recessive severe congenital neutropenia due to cxcr2 deficiency | GARD:21747 | MONDO:equivalentTo | Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency | | | -| MONDO:0866072 | rare genetic odontal or periodontal disorder | GARD:21748 | MONDO:equivalentTo | Rare genetic odontal or periodontal disorder | | | -| MONDO:0866073 | autoimmune encephalopathy with parasomnia and obstructive sleep apnea | GARD:21749 | MONDO:equivalentTo | Autoimmune encephalopathy with parasomnia and obstructive sleep apnea | | | -| MONDO:0866074 | cono-spondylar dysplasia | GARD:21750 | MONDO:equivalentTo | Cono-spondylar dysplasia | | | -| MONDO:0866075 | microcephaly-short stature-intellectual disability-facial dysmorphism syndrome | GARD:21751 | MONDO:equivalentTo | Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome | | | -| MONDO:0866076 | x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | GARD:21752 | MONDO:equivalentTo | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | -| MONDO:0866077 | arx-related encephalopathy-brain malformation spectrum | GARD:21753 | MONDO:equivalentTo | ARX-related encephalopathy-brain malformation spectrum | | | -| MONDO:0866078 | rare autonomic nervous system disorder | GARD:21754 | MONDO:equivalentTo | Rare autonomic nervous system disorder | | | -| MONDO:0866079 | double outlet right ventricle with subaortic or doubly committed ventricular septal defect | GARD:21755 | MONDO:equivalentTo | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect | | | -| MONDO:0866080 | double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy | GARD:21756 | MONDO:equivalentTo | Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy | | | -| MONDO:0866081 | rare carcinoma of stomach | GARD:21757 | MONDO:equivalentTo | Rare carcinoma of stomach | | | -| MONDO:0866082 | hereditary gastric cancer | GARD:21758 | MONDO:equivalentTo | Hereditary gastric cancer | | | -| MONDO:0866083 | undifferentiated carcinoma of stomach | GARD:21759 | MONDO:equivalentTo | Undifferentiated carcinoma of stomach | | | -| MONDO:0866084 | rare tumor of small intestine | GARD:21760 | MONDO:equivalentTo | Rare tumor of small intestine | | | -| MONDO:0866085 | mesenchymal tumor of small intestine | GARD:21761 | MONDO:equivalentTo | Mesenchymal tumor of small intestine | | | -| MONDO:0866086 | microcephaly-complex motor and sensory axonal neuropathy syndrome | GARD:21762 | MONDO:equivalentTo | Microcephaly-complex motor and sensory axonal neuropathy syndrome | | | -| MONDO:0866087 | rare carcinoma of small intestine | GARD:21763 | MONDO:equivalentTo | Rare carcinoma of small intestine | | | -| MONDO:0866088 | squamous cell carcinoma of the small intestine | GARD:21764 | MONDO:equivalentTo | Squamous cell carcinoma of the small intestine | | | -| MONDO:0866089 | neuroendocrine tumor of the small intestine | GARD:21765 | MONDO:equivalentTo | Neuroendocrine tumor of the small intestine | | | -| MONDO:0866090 | epithelial tumor of the appendix | GARD:21766 | MONDO:equivalentTo | Epithelial tumor of the appendix | | | -| MONDO:0866091 | rare epithelial tumor of colon | GARD:21767 | MONDO:equivalentTo | Rare epithelial tumor of colon | | | -| MONDO:0866092 | squamous cell carcinoma of the colon | GARD:21768 | MONDO:equivalentTo | Squamous cell carcinoma of the colon | | | -| MONDO:0866093 | rare epithelial tumor of rectum | GARD:21769 | MONDO:equivalentTo | Rare epithelial tumor of rectum | | | -| MONDO:0866094 | squamous cell carcinoma of the rectum | GARD:21770 | MONDO:equivalentTo | Squamous cell carcinoma of the rectum | | | -| MONDO:0866095 | epithelial tumor of anal canal | GARD:21771 | MONDO:equivalentTo | Epithelial tumor of anal canal | | | -| MONDO:0866096 | carcinoma of the anal canal | GARD:21772 | MONDO:equivalentTo | Carcinoma of the anal canal | | | -| MONDO:0866097 | adenocarcinoma of the anal canal | GARD:21773 | MONDO:equivalentTo | Adenocarcinoma of the anal canal | | | -| MONDO:0866098 | squamous cell carcinoma of the anal canal | GARD:21774 | MONDO:equivalentTo | Squamous cell carcinoma of the anal canal | | | -| MONDO:0866099 | rare epithelial tumor of pancreas | GARD:21775 | MONDO:equivalentTo | Rare epithelial tumor of pancreas | | | -| MONDO:0866100 | squamous cell carcinoma of pancreas | GARD:21776 | MONDO:equivalentTo | Squamous cell carcinoma of pancreas | | | -| MONDO:0866101 | acinar cell carcinoma of pancreas | GARD:21777 | MONDO:equivalentTo | Acinar cell carcinoma of pancreas | | | -| MONDO:0866102 | mucinous cystadenocarcinoma of the pancreas | GARD:21778 | MONDO:equivalentTo | Mucinous cystadenocarcinoma of the pancreas | | | -| MONDO:0866103 | intraductal papillary mucinous carcinoma of pancreas | GARD:21779 | MONDO:equivalentTo | Intraductal papillary mucinous carcinoma of pancreas | | | -| MONDO:0866104 | epiphyseal dysplasia-hearing loss-dysmorphism syndrome | GARD:2178 | MONDO:equivalentTo | Epiphyseal dysplasia-hearing loss-dysmorphism syndrome | | | -| MONDO:0866105 | solid pseudopapillary carcinoma of pancreas | GARD:21780 | MONDO:equivalentTo | Solid pseudopapillary carcinoma of pancreas | | | -| MONDO:0866106 | serous cystadenocarcinoma of pancreas | GARD:21781 | MONDO:equivalentTo | Serous cystadenocarcinoma of pancreas | | | -| MONDO:0866107 | osteoclastic giant cell tumor of pancreas | GARD:21782 | MONDO:equivalentTo | Osteoclastic giant cell tumor of pancreas | | | -| MONDO:0866108 | congenital myopathy with myasthenic-like onset | GARD:21783 | MONDO:equivalentTo | Congenital myopathy with myasthenic-like onset | | | -| MONDO:0866109 | qualitative or quantitative defects of torsin-1a-interacting protein 1 | GARD:21784 | MONDO:equivalentTo | Qualitative or quantitative defects of Torsin-1A-interacting protein 1 | | | -| MONDO:0866110 | rare malignant epithelial tumor of liver and intrahepatic biliary tract | GARD:21785 | MONDO:equivalentTo | Rare malignant epithelial tumor of liver and intrahepatic biliary tract | | | -| MONDO:0866111 | carcinoma of liver and intrahepatic biliary tract | GARD:21786 | MONDO:equivalentTo | Carcinoma of liver and intrahepatic biliary tract | | | -| MONDO:0866112 | adenocarcinoma of the liver and intrahepatic biliary tract | GARD:21787 | MONDO:equivalentTo | Adenocarcinoma of the liver and intrahepatic biliary tract | | | -| MONDO:0866113 | undifferentiated carcinoma of liver and intrahepatic biliary tract | GARD:21788 | MONDO:equivalentTo | Undifferentiated carcinoma of liver and intrahepatic biliary tract | | | -| MONDO:0866114 | squamous cell carcinoma of liver and intrahepatic biliary tract | GARD:21789 | MONDO:equivalentTo | Squamous cell carcinoma of liver and intrahepatic biliary tract | | | -| MONDO:0866115 | biliary cystadenocarcinoma | GARD:21790 | MONDO:equivalentTo | Biliary cystadenocarcinoma | | | -| MONDO:0866116 | adenocarcinoma of the gallbladder and extrahepatic biliary tract | GARD:21791 | MONDO:equivalentTo | Adenocarcinoma of the gallbladder and extrahepatic biliary tract | | | -| MONDO:0866117 | squamous cell carcinoma of gallbladder and extrahepatic biliary tract | GARD:21792 | MONDO:equivalentTo | Squamous cell carcinoma of gallbladder and extrahepatic biliary tract | | | -| MONDO:0866118 | inherited digestive cancer-predisposing syndrome | GARD:21793 | MONDO:equivalentTo | Inherited digestive cancer-predisposing syndrome | | | -| MONDO:0866119 | rare epithelial tumor of small intestine | GARD:21794 | MONDO:equivalentTo | Rare epithelial tumor of small intestine | | | -| MONDO:0866120 | primary immunodeficiency with predisposition to severe viral infection | GARD:21795 | MONDO:equivalentTo | Primary immunodeficiency with predisposition to severe viral infection | | | -| MONDO:0866121 | late-onset scapuloperoneal muscular dystrophy with hyaline bodies | GARD:21796 | MONDO:equivalentTo | Late-onset scapuloperoneal muscular dystrophy with hyaline bodies | | | -| MONDO:0866122 | spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder | GARD:21797 | MONDO:equivalentTo | Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder | | | -| MONDO:0866123 | patent urachus | GARD:21798 | MONDO:equivalentTo | Patent urachus | | | -| MONDO:0866124 | urachal sinus | GARD:21799 | MONDO:equivalentTo | Urachal sinus | | | -| MONDO:0866125 | rotor syndrome | GARD:218 | MONDO:equivalentTo | Rotor syndrome | | | -| MONDO:0866126 | multiple epiphyseal dysplasia type 1 | GARD:2180 | MONDO:equivalentTo | Multiple epiphyseal dysplasia type 1 | | | -| MONDO:0866127 | urachal diverticulum | GARD:21800 | MONDO:equivalentTo | Urachal diverticulum | | | -| MONDO:0866128 | pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis | GARD:21801 | MONDO:equivalentTo | Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis | | | -| MONDO:0866129 | rare genetic autonomic nervous system disorder | GARD:21802 | MONDO:equivalentTo | Rare genetic autonomic nervous system disorder | | | -| MONDO:0866130 | syndrome with woolly hair | GARD:21803 | MONDO:equivalentTo | Syndrome with woolly hair | | | -| MONDO:0866131 | fetal lower urinary tract obstruction | GARD:21804 | MONDO:equivalentTo | Fetal lower urinary tract obstruction | | | -| MONDO:0866132 | anterior urethral valve | GARD:21805 | MONDO:equivalentTo | Anterior urethral valve | | | -| MONDO:0866133 | genetic precocious puberty | GARD:21806 | MONDO:equivalentTo | Genetic precocious puberty | | | -| MONDO:0866134 | precocious puberty in female | GARD:21807 | MONDO:equivalentTo | Precocious puberty in female | | | -| MONDO:0866135 | genetic precocious puberty in female | GARD:21808 | MONDO:equivalentTo | Genetic precocious puberty in female | | | -| MONDO:0866136 | genetic otorhinolaryngological malformation | GARD:21809 | MONDO:equivalentTo | Genetic otorhinolaryngological malformation | | | -| MONDO:0866137 | genetic nose and cavum anomaly | GARD:21810 | MONDO:equivalentTo | Genetic nose and cavum anomaly | | | -| MONDO:0866138 | genetic larynx anomaly | GARD:21811 | MONDO:equivalentTo | Genetic larynx anomaly | | | -| MONDO:0866139 | genetic tracheal anomaly | GARD:21812 | MONDO:equivalentTo | Genetic tracheal anomaly | | | -| MONDO:0866140 | 3p25.3 microdeletion syndrome | GARD:21813 | MONDO:equivalentTo | 3p25.3 microdeletion syndrome | | | -| MONDO:0866141 | congenital urachal anomaly | GARD:21814 | MONDO:equivalentTo | Congenital urachal anomaly | | | -| MONDO:0866142 | autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation | GARD:21815 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation | | | -| MONDO:0866143 | contractures-developmental delay-pierre robin syndrome | GARD:21816 | MONDO:equivalentTo | Contractures-developmental delay-Pierre Robin syndrome | | | -| MONDO:0866144 | severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome | GARD:21817 | MONDO:equivalentTo | Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome | | | -| MONDO:0866145 | intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | GARD:21818 | MONDO:equivalentTo | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | | | -| MONDO:0866146 | non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | GARD:21819 | MONDO:equivalentTo | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | | | -| MONDO:0866147 | pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | GARD:21820 | MONDO:equivalentTo | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | | | -| MONDO:0866148 | disorder of keton body transport | GARD:21821 | MONDO:equivalentTo | Disorder of keton body transport | | | -| MONDO:0866149 | human infection by orthopoxvirus | GARD:21822 | MONDO:equivalentTo | Human infection by orthopoxvirus | | | -| MONDO:0866150 | placental insufficiency | GARD:21823 | MONDO:equivalentTo | Placental insufficiency | | | -| MONDO:0866151 | pediatric arterial ischemic stroke | GARD:21824 | MONDO:equivalentTo | Pediatric arterial ischemic stroke | | | -| MONDO:0866152 | zinc-responsive necrolytic acral erythema | GARD:21825 | MONDO:equivalentTo | Zinc-responsive necrolytic acral erythema | | | -| MONDO:0866153 | non-recovering obstetric brachial plexus lesion | GARD:21826 | MONDO:equivalentTo | Non-recovering obstetric brachial plexus lesion | | | -| MONDO:0866154 | alect2 amyloidosis | GARD:21827 | MONDO:equivalentTo | ALECT2 amyloidosis | | | -| MONDO:0866155 | aapoaiv amyloidosis | GARD:21828 | MONDO:equivalentTo | AApoAIV amyloidosis | | | -| MONDO:0866156 | abeta2m amyloidosis | GARD:21829 | MONDO:equivalentTo | ABeta2M amyloidosis | | | -| MONDO:0866157 | primary polyarteritis nodosa | GARD:21830 | MONDO:equivalentTo | Primary polyarteritis nodosa | | | -| MONDO:0866158 | secondary polyarteritis nodosa | GARD:21831 | MONDO:equivalentTo | Secondary polyarteritis nodosa | | | -| MONDO:0866159 | single-organ polyarteritis nodosa | GARD:21832 | MONDO:equivalentTo | Single-organ polyarteritis nodosa | | | -| MONDO:0866160 | systemic polyarteritis nodosa | GARD:21833 | MONDO:equivalentTo | Systemic polyarteritis nodosa | | | -| MONDO:0866161 | autosomal recessive severe congenital neutropenia | GARD:21834 | MONDO:equivalentTo | Autosomal recessive severe congenital neutropenia | | | -| MONDO:0866162 | plastic bronchitis | GARD:21835 | MONDO:equivalentTo | Plastic bronchitis | | | -| MONDO:0866163 | congenital oculomotor nerve palsy | GARD:21836 | MONDO:equivalentTo | Congenital oculomotor nerve palsy | | | -| MONDO:0866164 | congenital abducens nerve palsy | GARD:21837 | MONDO:equivalentTo | Congenital abducens nerve palsy | | | -| MONDO:0866165 | autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | GARD:21838 | MONDO:equivalentTo | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | | | -| MONDO:0866166 | necrotizing soft tissue infection | GARD:21839 | MONDO:equivalentTo | Necrotizing soft tissue infection | | | -| MONDO:0866167 | familial colorectal cancer type x | GARD:21840 | MONDO:equivalentTo | Familial colorectal cancer Type X | | | -| MONDO:0866168 | disorders of pentose/polyol metabolism | GARD:21841 | MONDO:equivalentTo | Disorders of pentose/polyol metabolism | | | -| MONDO:0866169 | extensive peripapillary myelinated nerve fibers | GARD:21842 | MONDO:equivalentTo | Extensive peripapillary myelinated nerve fibers | | | -| MONDO:0866170 | combined hamartoma of the retina and retinal pigment epithelium | GARD:21843 | MONDO:equivalentTo | Combined hamartoma of the retina and retinal pigment epithelium | | | -| MONDO:0866171 | isolated agenesis of gallbladder | GARD:21844 | MONDO:equivalentTo | Isolated agenesis of gallbladder | | | -| MONDO:0866172 | syndromic hereditary optic neuropathy | GARD:21845 | MONDO:equivalentTo | Syndromic hereditary optic neuropathy | | | -| MONDO:0866173 | early-onset posterior subcapsular cataract | GARD:21846 | MONDO:equivalentTo | Early-onset posterior subcapsular cataract | | | -| MONDO:0866174 | ah amyloidosis | GARD:21847 | MONDO:equivalentTo | AH amyloidosis | | | -| MONDO:0866175 | 46,xy disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect | GARD:21848 | MONDO:equivalentTo | 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect | | | -| MONDO:0866176 | hyperinsulinemic hypoglycaemia | GARD:21849 | MONDO:equivalentTo | Hyperinsulinemic hypoglycaemia | | | -| MONDO:0866177 | hypothalamic adipsic hypernatraemia syndrome | GARD:21850 | MONDO:equivalentTo | Hypothalamic adipsic hypernatraemia syndrome | | | -| MONDO:0866178 | lymphoplasmacytic lymphoma without igm production | GARD:21851 | MONDO:equivalentTo | Lymphoplasmacytic lymphoma without IgM production | | | -| MONDO:0866179 | nut midline carcinoma | GARD:21852 | MONDO:equivalentTo | NUT midline carcinoma | | | -| MONDO:0866180 | postpartum psychosis | GARD:21853 | MONDO:equivalentTo | Postpartum psychosis | | | -| MONDO:0866181 | spontaneous intracranial hypotension | GARD:21854 | MONDO:equivalentTo | Spontaneous intracranial hypotension | | | -| MONDO:0866182 | paratyphoid fever | GARD:21855 | MONDO:equivalentTo | Paratyphoid fever | | | -| MONDO:0866183 | acth-independent cushing syndrome due to rare cortisol-producing adrenal tumor | GARD:21856 | MONDO:equivalentTo | ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor | | | -| MONDO:0866184 | hiv-associated cancer | GARD:21857 | MONDO:equivalentTo | HIV-associated cancer | | | -| MONDO:0866185 | 11q22.2q22.3 microdeletion syndrome | GARD:21858 | MONDO:equivalentTo | 11q22.2q22.3 microdeletion syndrome | | | -| MONDO:0866186 | 20q11.2 microdeletion syndrome | GARD:21859 | MONDO:equivalentTo | 20q11.2 microdeletion syndrome | | | -| MONDO:0866187 | idiopathic phalangeal acro-osteolysis | GARD:21860 | MONDO:equivalentTo | Idiopathic phalangeal acro-osteolysis | | | -| MONDO:0866188 | pseudohypoaldosteronism | GARD:21861 | MONDO:equivalentTo | Pseudohypoaldosteronism | | | -| MONDO:0866189 | caudal regression-sirenomelia spectrum | GARD:21862 | MONDO:equivalentTo | Caudal regression-sirenomelia spectrum | | | -| MONDO:0866190 | secondary vasculitis | GARD:21863 | MONDO:equivalentTo | Secondary vasculitis | | | -| MONDO:0866191 | nik deficiency | GARD:21864 | MONDO:equivalentTo | NIK deficiency | | | -| MONDO:0866192 | susceptibility to localized juvenile periodontitis | GARD:21865 | MONDO:equivalentTo | Susceptibility to localized juvenile periodontitis | | | -| MONDO:0866193 | autosomal dominant spastic paraplegia type 9b | GARD:21866 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 9B | | | -| MONDO:0866194 | igg4-related sclerosing cholangitis | GARD:21867 | MONDO:equivalentTo | IgG4-related sclerosing cholangitis | | | -| MONDO:0866195 | sclerosing cholangitis | GARD:21868 | MONDO:equivalentTo | Sclerosing cholangitis | | | -| MONDO:0866196 | secondary sclerosing cholangitis | GARD:21869 | MONDO:equivalentTo | Secondary sclerosing cholangitis | | | -| MONDO:0866197 | keratocystic odontogenic tumor | GARD:21870 | MONDO:equivalentTo | Keratocystic odontogenic tumor | | | -| MONDO:0866198 | cerebral visual impairment | GARD:21871 | MONDO:equivalentTo | Cerebral visual impairment | | | -| MONDO:0866199 | lipoyl transferase 2 deficiency | GARD:21872 | MONDO:equivalentTo | Lipoyl transferase 2 deficiency | | | -| MONDO:0866200 | biological anomaly without phenotypic characterization | GARD:21873 | MONDO:equivalentTo | Biological anomaly without phenotypic characterization | | | -| MONDO:0866201 | idiopathic dropped head syndrome | GARD:21874 | MONDO:equivalentTo | Idiopathic dropped head syndrome | | | -| MONDO:0866202 | 19p13.3 microduplication syndrome | GARD:21875 | MONDO:equivalentTo | 19p13.3 microduplication syndrome | | | -| MONDO:0866203 | partial duplication of the short arm of chromosome 19 | GARD:21876 | MONDO:equivalentTo | Partial duplication of the short arm of chromosome 19 | | | -| MONDO:0866204 | ectopia cordis | GARD:21877 | MONDO:equivalentTo | Ectopia cordis | | | -| MONDO:0866205 | genetic primary orthostatic hypotension | GARD:21878 | MONDO:equivalentTo | Genetic primary orthostatic hypotension | | | -| MONDO:0866206 | pleural empyema | GARD:21879 | MONDO:equivalentTo | Pleural empyema | | | -| MONDO:0866207 | erosive pustular dermatosis of the scalp | GARD:2188 | MONDO:equivalentTo | Erosive pustular dermatosis of the scalp | | | -| MONDO:0866208 | scedosporiosis | GARD:21880 | MONDO:equivalentTo | Scedosporiosis | | | -| MONDO:0866209 | snakebite envenomation | GARD:21881 | MONDO:equivalentTo | Snakebite envenomation | | | -| MONDO:0866210 | igg4-related kidney disease | GARD:21882 | MONDO:equivalentTo | IgG4-related kidney disease | | | -| MONDO:0866211 | igg4-related aortitis | GARD:21883 | MONDO:equivalentTo | IgG4-related aortitis | | | -| MONDO:0866212 | igg4-related submandibular gland disease | GARD:21884 | MONDO:equivalentTo | IgG4-related submandibular gland disease | | | -| MONDO:0866213 | igg4-related ophthalmic disease | GARD:21885 | MONDO:equivalentTo | IgG4-related ophthalmic disease | | | -| MONDO:0866214 | eosinophilic angiocentric fibrosis | GARD:21886 | MONDO:equivalentTo | Eosinophilic angiocentric fibrosis | | | -| MONDO:0866215 | polyclonal hyperviscosity syndrome | GARD:21887 | MONDO:equivalentTo | Polyclonal hyperviscosity syndrome | | | -| MONDO:0866216 | primary cutaneous plasmacytosis | GARD:21888 | MONDO:equivalentTo | Primary cutaneous plasmacytosis | | | -| MONDO:0866217 | cutaneous pseudolymphoma | GARD:21889 | MONDO:equivalentTo | Cutaneous pseudolymphoma | | | -| MONDO:0866218 | congenital insensitivity to pain with severe intellectual disability | GARD:21890 | MONDO:equivalentTo | Congenital insensitivity to pain with severe intellectual disability | | | -| MONDO:0866219 | progressive muscular atrophy | GARD:21891 | MONDO:equivalentTo | Progressive muscular atrophy | | | -| MONDO:0866220 | anti-p200 pemphigoid | GARD:21892 | MONDO:equivalentTo | Anti-p200 pemphigoid | | | -| MONDO:0866221 | endometrioid carcinoma of ovary | GARD:21893 | MONDO:equivalentTo | Endometrioid carcinoma of ovary | | | -| MONDO:0866222 | variably protease-sensitive prionopathy | GARD:21894 | MONDO:equivalentTo | Variably protease-sensitive prionopathy | | | -| MONDO:0866223 | isolated tracheoesophageal fistula | GARD:21895 | MONDO:equivalentTo | Isolated tracheoesophageal fistula | | | -| MONDO:0866224 | acute radiation syndrome | GARD:21896 | MONDO:equivalentTo | Acute radiation syndrome | | | -| MONDO:0866225 | avian influenza | GARD:21897 | MONDO:equivalentTo | Avian influenza | | | -| MONDO:0866226 | 1p35.2 microdeletion syndrome | GARD:21898 | MONDO:equivalentTo | 1p35.2 microdeletion syndrome | | | -| MONDO:0866227 | hereditary neuroendocrine tumor of small intestine | GARD:21899 | MONDO:equivalentTo | Hereditary neuroendocrine tumor of small intestine | | | -| MONDO:0866228 | pseudohypoparathyroidism without albright hereditary osteodystrophy | GARD:21900 | MONDO:equivalentTo | Pseudohypoparathyroidism without Albright hereditary osteodystrophy | | | -| MONDO:0866229 | congenital nemaline myopathy | GARD:21901 | MONDO:equivalentTo | Congenital nemaline myopathy | | | -| MONDO:0866230 | tafro syndrome | GARD:21902 | MONDO:equivalentTo | TAFRO syndrome | | | -| MONDO:0866231 | isolated splenogonadal fusion | GARD:21903 | MONDO:equivalentTo | Isolated splenogonadal fusion | | | -| MONDO:0866232 | infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome | GARD:21904 | MONDO:equivalentTo | Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome | | | -| MONDO:0866233 | clear cell sarcoma of kidney | GARD:21905 | MONDO:equivalentTo | Clear cell sarcoma of kidney | | | -| MONDO:0866234 | intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome | GARD:21906 | MONDO:equivalentTo | Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome | | | -| MONDO:0866235 | composite hemangioendothelioma | GARD:21907 | MONDO:equivalentTo | Composite hemangioendothelioma | | | -| MONDO:0866236 | retiform hemangioendothelioma | GARD:21908 | MONDO:equivalentTo | Retiform hemangioendothelioma | | | -| MONDO:0866237 | primary intralymphatic angioendothelioma | GARD:21909 | MONDO:equivalentTo | Primary intralymphatic angioendothelioma | | | -| MONDO:0866238 | congenital hemangioma | GARD:21910 | MONDO:equivalentTo | Congenital hemangioma | | | -| MONDO:0866239 | partially involuting congenital hemangioma | GARD:21911 | MONDO:equivalentTo | Partially involuting congenital hemangioma | | | -| MONDO:0866240 | mixed cystic lymphatic malformation | GARD:21912 | MONDO:equivalentTo | Mixed cystic lymphatic malformation | | | -| MONDO:0866241 | vascular tumor with associated anomalies | GARD:21913 | MONDO:equivalentTo | Vascular tumor with associated anomalies | | | -| MONDO:0866242 | rare capillary malformation with associated anomalies | GARD:21914 | MONDO:equivalentTo | Rare capillary malformation with associated anomalies | | | -| MONDO:0866243 | common cystic lymphatic malformation | GARD:21915 | MONDO:equivalentTo | Common cystic lymphatic malformation | | | -| MONDO:0866244 | rare combined vascular malformation | GARD:21916 | MONDO:equivalentTo | Rare combined vascular malformation | | | -| MONDO:0866245 | rare vascular malformation of major vessels | GARD:21917 | MONDO:equivalentTo | Rare vascular malformation of major vessels | | | -| MONDO:0866246 | corpus callosum agenesis-macrocephaly-hypertelorism syndrome | GARD:21918 | MONDO:equivalentTo | Corpus callosum agenesis-macrocephaly-hypertelorism syndrome | | | -| MONDO:0866247 | immunodeficiency due to a complement cascade component deficiency | GARD:21919 | MONDO:equivalentTo | Immunodeficiency due to a complement cascade component deficiency | | | -| MONDO:0866248 | congenital lethal erythroderma | GARD:2192 | MONDO:equivalentTo | Congenital lethal erythroderma | | | -| MONDO:0866249 | immunodeficiency due to a complement regulatory deficiency | GARD:21920 | MONDO:equivalentTo | Immunodeficiency due to a complement regulatory deficiency | | | -| MONDO:0866250 | rare genetic capillary malformation | GARD:21921 | MONDO:equivalentTo | Rare genetic capillary malformation | | | -| MONDO:0866251 | genetic complex vascular malformation with associated anomalies | GARD:21922 | MONDO:equivalentTo | Genetic complex vascular malformation with associated anomalies | | | -| MONDO:0866252 | rare genetic vascular tumor | GARD:21923 | MONDO:equivalentTo | Rare genetic vascular tumor | | | -| MONDO:0866253 | rare genetic venous malformation | GARD:21924 | MONDO:equivalentTo | Rare genetic venous malformation | | | -| MONDO:0866254 | lethal multiple congenital anomalies/dysmorphic syndrome | GARD:21925 | MONDO:equivalentTo | Lethal multiple congenital anomalies/dysmorphic syndrome | | | -| MONDO:0866255 | intellectual disability syndrome due to a dyrk1a point mutation | GARD:21926 | MONDO:equivalentTo | Intellectual disability syndrome due to a DYRK1A point mutation | | | -| MONDO:0866256 | verrucous hemangioma | GARD:21927 | MONDO:equivalentTo | Verrucous hemangioma | | | -| MONDO:0866257 | benign metanephric tumor | GARD:21928 | MONDO:equivalentTo | Benign metanephric tumor | | | -| MONDO:0866258 | neonatal alloimmune neutropenia | GARD:21929 | MONDO:equivalentTo | Neonatal alloimmune neutropenia | | | -| MONDO:0866259 | acquired methemoglobinemia | GARD:21930 | MONDO:equivalentTo | Acquired methemoglobinemia | | | -| MONDO:0866260 | paracetamol poisoning | GARD:21931 | MONDO:equivalentTo | Paracetamol poisoning | | | -| MONDO:0866261 | familial gastric type 1 neuroendocrine tumor | GARD:21932 | MONDO:equivalentTo | Familial gastric type 1 neuroendocrine tumor | | | -| MONDO:0866262 | immune-mediated acquired neuromuscular junction disease | GARD:21933 | MONDO:equivalentTo | Immune-mediated acquired neuromuscular junction disease | | | -| MONDO:0866263 | genetic hemoglobinopathy | GARD:21934 | MONDO:equivalentTo | Genetic hemoglobinopathy | | | -| MONDO:0866264 | genetic otorhinolaryngologic disease | GARD:21935 | MONDO:equivalentTo | Genetic otorhinolaryngologic disease | | | -| MONDO:0866265 | exercise-induced malignant hyperthermia | GARD:21936 | MONDO:equivalentTo | Exercise-induced malignant hyperthermia | | | -| MONDO:0866266 | rare disease with malignant hyperthermia | GARD:21937 | MONDO:equivalentTo | Rare disease with malignant hyperthermia | | | -| MONDO:0866267 | cyanide poisoning | GARD:21938 | MONDO:equivalentTo | Cyanide poisoning | | | -| MONDO:0866268 | scorpion envenomation | GARD:21939 | MONDO:equivalentTo | Scorpion envenomation | | | -| MONDO:0866269 | euthyroid graves orbitopathy | GARD:21940 | MONDO:equivalentTo | Euthyroid Graves orbitopathy | | | -| MONDO:0866270 | supratip dysplasia | GARD:21941 | MONDO:equivalentTo | Supratip dysplasia | | | -| MONDO:0866271 | childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome | GARD:21942 | MONDO:equivalentTo | Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome | | | -| MONDO:0866272 | smarca4-deficient sarcoma of thorax | GARD:21943 | MONDO:equivalentTo | SMARCA4-deficient sarcoma of thorax | | | -| MONDO:0866273 | tubulinopathy-associated dysgyria | GARD:21944 | MONDO:equivalentTo | Tubulinopathy-associated dysgyria | | | -| MONDO:0866274 | cryptogenic multifocal ulcerous stenosing enteritis | GARD:21945 | MONDO:equivalentTo | Cryptogenic multifocal ulcerous stenosing enteritis | | | -| MONDO:0866275 | chronic enteropathy associated with slco2a1 gene | GARD:21946 | MONDO:equivalentTo | Chronic enteropathy associated with SLCO2A1 gene | | | -| MONDO:0866276 | genetic lethal multiple congenital anomalies/dysmorphic syndrome | GARD:21947 | MONDO:equivalentTo | Genetic lethal multiple congenital anomalies/dysmorphic syndrome | | | -| MONDO:0866277 | rare congenital anomaly of ventricular septum | GARD:21948 | MONDO:equivalentTo | Rare congenital anomaly of ventricular septum | | | -| MONDO:0866278 | autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome | GARD:21949 | MONDO:equivalentTo | Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome | | | -| MONDO:0866279 | thickened earlobes-conductive deafness syndrome | GARD:2195 | MONDO:equivalentTo | Thickened earlobes-conductive deafness syndrome | | | -| MONDO:0866280 | erythrokeratodermia-cardiomyopathy syndrome | GARD:21950 | MONDO:equivalentTo | Erythrokeratodermia-cardiomyopathy syndrome | | | -| MONDO:0866281 | axonal hereditary motor and sensory neuropathy | GARD:21951 | MONDO:equivalentTo | Axonal hereditary motor and sensory neuropathy | | | -| MONDO:0866282 | demyelinating hereditary motor and sensory neuropathy | GARD:21952 | MONDO:equivalentTo | Demyelinating hereditary motor and sensory neuropathy | | | -| MONDO:0866283 | autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | GARD:21953 | MONDO:equivalentTo | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | | | -| MONDO:0866284 | intermediate charcot-marie-tooth disease | GARD:21954 | MONDO:equivalentTo | Intermediate Charcot-Marie-Tooth disease | | | -| MONDO:0866285 | hypercontractile muscle stiffness syndrome | GARD:21955 | MONDO:equivalentTo | Hypercontractile muscle stiffness syndrome | | | -| MONDO:0866286 | congenital generalized hypercontractile muscle stiffness syndrome | GARD:21956 | MONDO:equivalentTo | Congenital generalized hypercontractile muscle stiffness syndrome | | | -| MONDO:0866287 | type 1 interferonopathy | GARD:21957 | MONDO:equivalentTo | Type 1 interferonopathy | | | -| MONDO:0866288 | fibroblastic rheumatism | GARD:21958 | MONDO:equivalentTo | Fibroblastic rheumatism | | | -| MONDO:0866289 | nodular fasciitis | GARD:21959 | MONDO:equivalentTo | Nodular fasciitis | | | -| MONDO:0866290 | genetic cerebral small vessel disease | GARD:21960 | MONDO:equivalentTo | Genetic cerebral small vessel disease | | | -| MONDO:0866291 | col4a1 or col4a2-related cerebral small vessel disease | GARD:21961 | MONDO:equivalentTo | COL4A1 or COL4A2-related cerebral small vessel disease | | | -| MONDO:0866292 | col4a1 or col4a2-related cerebral small vessel disease with ischemic tendancy | GARD:21962 | MONDO:equivalentTo | COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy | | | -| MONDO:0866293 | col4a1 or col4a2-related cerebral small vessel disease with hemorrhagic tendancy | GARD:21963 | MONDO:equivalentTo | COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy | | | -| MONDO:0866294 | moyamoya angiopathy | GARD:21964 | MONDO:equivalentTo | Moyamoya angiopathy | | | -| MONDO:0866295 | rare disorder with a moyamoya angiopathy | GARD:21965 | MONDO:equivalentTo | Rare disorder with a moyamoya angiopathy | | | -| MONDO:0866296 | primary condylar hyperplasia | GARD:21966 | MONDO:equivalentTo | Primary condylar hyperplasia | | | -| MONDO:0866297 | syndromic constitutional thrombocytopenia | GARD:21967 | MONDO:equivalentTo | Syndromic constitutional thrombocytopenia | | | -| MONDO:0866298 | isolated constitutional thrombocytopenia | GARD:21968 | MONDO:equivalentTo | Isolated constitutional thrombocytopenia | | | -| MONDO:0866299 | genetic cardiac malformation | GARD:21969 | MONDO:equivalentTo | Genetic cardiac malformation | | | -| MONDO:0866300 | esthesioneuroblastoma | GARD:2197 | MONDO:equivalentTo | Esthesioneuroblastoma | | | -| MONDO:0866301 | other genetic dermis disorder | GARD:21970 | MONDO:equivalentTo | Other genetic dermis disorder | | | -| MONDO:0866302 | rare hypercholesterolemia | GARD:21971 | MONDO:equivalentTo | Rare hypercholesterolemia | | | -| MONDO:0866303 | myo5b-related progressive familial intrahepatic cholestasis | GARD:21972 | MONDO:equivalentTo | MYO5B-related progressive familial intrahepatic cholestasis | | | -| MONDO:0866304 | choledochal cyst | GARD:21973 | MONDO:equivalentTo | Choledochal cyst | | | -| MONDO:0866305 | primary intrahepatic lithiasis | GARD:21974 | MONDO:equivalentTo | Primary intrahepatic lithiasis | | | -| MONDO:0866306 | idiopathic ductopenia | GARD:21975 | MONDO:equivalentTo | Idiopathic ductopenia | | | -| MONDO:0866307 | caroli syndrome | GARD:21976 | MONDO:equivalentTo | Caroli syndrome | | | -| MONDO:0866308 | idiopathic peliosis hepatis | GARD:21977 | MONDO:equivalentTo | Idiopathic peliosis hepatis | | | -| MONDO:0866309 | lethal hydranencephaly-diaphragmatic hernia syndrome | GARD:21978 | MONDO:equivalentTo | Lethal hydranencephaly-diaphragmatic hernia syndrome | | | -| MONDO:0866310 | congenital portosystemic shunt | GARD:21979 | MONDO:equivalentTo | Congenital portosystemic shunt | | | -| MONDO:0866311 | ethylmalonic encephalopathy | GARD:2198 | MONDO:equivalentTo | Ethylmalonic encephalopathy | | | -| MONDO:0866312 | high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement | GARD:21980 | MONDO:equivalentTo | High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement | | | -| MONDO:0866313 | non-severe combined immunodeficiency | GARD:21981 | MONDO:equivalentTo | Non-severe combined immunodeficiency | | | -| MONDO:0866314 | aneurysmal bone cyst | GARD:21982 | MONDO:equivalentTo | Aneurysmal bone cyst | | | -| MONDO:0866315 | isolated neonatal sclerosing cholangitis | GARD:21983 | MONDO:equivalentTo | Isolated neonatal sclerosing cholangitis | | | -| MONDO:0866316 | facial diplegia with paresthesias | GARD:21984 | MONDO:equivalentTo | Facial diplegia with paresthesias | | | -| MONDO:0866317 | gastroenteric neuroendocrine neoplasm | GARD:21985 | MONDO:equivalentTo | Gastroenteric neuroendocrine neoplasm | | | -| MONDO:0866318 | type 1 interferonopathy of childhood | GARD:21986 | MONDO:equivalentTo | Type 1 interferonopathy of childhood | | | -| MONDO:0866319 | genetic alopecia | GARD:21987 | MONDO:equivalentTo | Genetic alopecia | | | -| MONDO:0866320 | htra1-related cerebral small vessel disease | GARD:21988 | MONDO:equivalentTo | HTRA1-related cerebral small vessel disease | | | -| MONDO:0866321 | rare idiopathic macular telangiectasia | GARD:21989 | MONDO:equivalentTo | Rare idiopathic macular telangiectasia | | | -| MONDO:0866322 | x-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome | GARD:21990 | MONDO:equivalentTo | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome | | | -| MONDO:0866323 | propylthiouracil embryofetopathy | GARD:21991 | MONDO:equivalentTo | Propylthiouracil embryofetopathy | | | -| MONDO:0866324 | genetic non-acquired premature ovarian failure | GARD:21992 | MONDO:equivalentTo | Genetic non-acquired premature ovarian failure | | | -| MONDO:0866325 | 16p12.1p12.3 triplication syndrome | GARD:21993 | MONDO:equivalentTo | 16p12.1p12.3 triplication syndrome | | | -| MONDO:0866326 | emilin-1-related connective tissue disease | GARD:21994 | MONDO:equivalentTo | EMILIN-1-related connective tissue disease | | | -| MONDO:0866327 | isolated congenital hepatic fibrosis | GARD:21995 | MONDO:equivalentTo | Isolated congenital hepatic fibrosis | | | -| MONDO:0866328 | congenital bile acid synthesis defect | GARD:21996 | MONDO:equivalentTo | Congenital bile acid synthesis defect | | | -| MONDO:0866329 | rare pediatric rheumatologic disease | GARD:21997 | MONDO:equivalentTo | Rare pediatric rheumatologic disease | | | -| MONDO:0866330 | pediatric collagenous gastritis | GARD:21998 | MONDO:equivalentTo | Pediatric collagenous gastritis | | | -| MONDO:0866331 | autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation | GARD:21999 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | | | -| MONDO:0866332 | björnstad syndrome | GARD:22 | MONDO:equivalentTo | Björnstad syndrome | | | -| MONDO:0866333 | peripartum cardiomyopathy | GARD:220 | MONDO:equivalentTo | Peripartum cardiomyopathy | | | -| MONDO:0866334 | acute macular neuroretinopathy | GARD:22000 | MONDO:equivalentTo | Acute macular neuroretinopathy | | | -| MONDO:0866335 | six2-related frontonasal dysplasia | GARD:22001 | MONDO:equivalentTo | SIX2-related frontonasal dysplasia | | | -| MONDO:0866336 | congenital amyoplasia | GARD:22002 | MONDO:equivalentTo | Congenital amyoplasia | | | -| MONDO:0866337 | extracranial carotid artery aneurysm | GARD:22003 | MONDO:equivalentTo | Extracranial carotid artery aneurysm | | | -| MONDO:0866338 | idiopathic pleuroparenchymal fibroelastosis | GARD:22004 | MONDO:equivalentTo | Idiopathic pleuroparenchymal fibroelastosis | | | -| MONDO:0866339 | vulvar squamous cell carcinoma | GARD:22005 | MONDO:equivalentTo | Vulvar squamous cell carcinoma | | | -| MONDO:0866340 | vulvar basal cell carcinoma | GARD:22006 | MONDO:equivalentTo | Vulvar basal cell carcinoma | | | -| MONDO:0866341 | vulvar adenocarcinoma | GARD:22007 | MONDO:equivalentTo | Vulvar adenocarcinoma | | | -| MONDO:0866342 | rare hyperkinetic movement disorder | GARD:22008 | MONDO:equivalentTo | Rare hyperkinetic movement disorder | | | -| MONDO:0866343 | 9q33.3q34.11 microdeletion syndrome | GARD:22009 | MONDO:equivalentTo | 9q33.3q34.11 microdeletion syndrome | | | -| MONDO:0866344 | congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome | GARD:22010 | MONDO:equivalentTo | Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome | | | -| MONDO:0866345 | congenital agenesis of the scrotum | GARD:22011 | MONDO:equivalentTo | Congenital agenesis of the scrotum | | | -| MONDO:0866346 | kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | GARD:22012 | MONDO:equivalentTo | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | | | -| MONDO:0866347 | rare genetic hyperkinetic movement disorder | GARD:22013 | MONDO:equivalentTo | Rare genetic hyperkinetic movement disorder | | | -| MONDO:0866348 | non-inflammatory vasculopathy | GARD:22014 | MONDO:equivalentTo | Non-inflammatory vasculopathy | | | -| MONDO:0866349 | c12orf65-related combined oxidative phosphorylation defect | GARD:22015 | MONDO:equivalentTo | C12ORF65-related combined oxidative phosphorylation defect | | | -| MONDO:0866350 | epidermolytic nevus | GARD:22016 | MONDO:equivalentTo | Epidermolytic nevus | | | -| MONDO:0866351 | menstrual cycle-dependent periodic fever | GARD:22017 | MONDO:equivalentTo | Menstrual cycle-dependent periodic fever | | | -| MONDO:0866352 | biliary atresia and associated disorders | GARD:22018 | MONDO:equivalentTo | Biliary atresia and associated disorders | | | -| MONDO:0866353 | syndromic biliary atresia | GARD:22019 | MONDO:equivalentTo | Syndromic biliary atresia | | | -| MONDO:0866354 | exostoses-anetodermia-brachydactyly type e syndrome | GARD:2202 | MONDO:equivalentTo | Exostoses-anetodermia-brachydactyly type E syndrome | | | -| MONDO:0866355 | genetic inflammatory or rheumatoid-like osteoarthropathy | GARD:22020 | MONDO:equivalentTo | Genetic inflammatory or rheumatoid-like osteoarthropathy | | | -| MONDO:0866356 | overgrowth or tall stature syndrome with skeletal involvement | GARD:22021 | MONDO:equivalentTo | Overgrowth or tall stature syndrome with skeletal involvement | | | -| MONDO:0866357 | dysostosis with brachydactyly without extraskeletal manifestations | GARD:22022 | MONDO:equivalentTo | Dysostosis with brachydactyly without extraskeletal manifestations | | | -| MONDO:0866358 | dysostosis with brachydactyly with extraskeletal manifestations | GARD:22023 | MONDO:equivalentTo | Dysostosis with brachydactyly with extraskeletal manifestations | | | -| MONDO:0866359 | longitudinal limb defect | GARD:22024 | MONDO:equivalentTo | Longitudinal limb defect | | | -| MONDO:0866360 | terminal transverse limb defect | GARD:22025 | MONDO:equivalentTo | Terminal transverse limb defect | | | -| MONDO:0866361 | non-syndromic preaxial polydactyly | GARD:22026 | MONDO:equivalentTo | Non-syndromic preaxial polydactyly | | | -| MONDO:0866362 | non-syndromic postaxial polydactyly | GARD:22027 | MONDO:equivalentTo | Non-syndromic postaxial polydactyly | | | -| MONDO:0866363 | non-syndromic complex polydactyly | GARD:22028 | MONDO:equivalentTo | Non-syndromic complex polydactyly | | | -| MONDO:0866364 | hyaline fibromatosis syndrome | GARD:22029 | MONDO:equivalentTo | Hyaline fibromatosis syndrome | | | -| MONDO:0866365 | ectrodactyly with and without other manifestations | GARD:22030 | MONDO:equivalentTo | Ectrodactyly with and without other manifestations | | | -| MONDO:0866366 | lrp5-related primary osteoporosis | GARD:22031 | MONDO:equivalentTo | LRP5-related primary osteoporosis | | | -| MONDO:0866367 | overgrowth syndrome with 2q37 translocation | GARD:22032 | MONDO:equivalentTo | Overgrowth syndrome with 2q37 translocation | | | -| MONDO:0866368 | complete hemimelia | GARD:22033 | MONDO:equivalentTo | Complete hemimelia | | | -| MONDO:0866369 | mirror-image polydactyly | GARD:22034 | MONDO:equivalentTo | Mirror-image polydactyly | | | -| MONDO:0866370 | mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome | GARD:22035 | MONDO:equivalentTo | MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome | | | -| MONDO:0866371 | congenital syphilis | GARD:22036 | MONDO:equivalentTo | Congenital syphilis | | | -| MONDO:0866372 | autoimmune/inflammatory optic neuropathy | GARD:22037 | MONDO:equivalentTo | Autoimmune/inflammatory optic neuropathy | | | -| MONDO:0866373 | chronic relapsing inflammatory optic neuropathy | GARD:22038 | MONDO:equivalentTo | Chronic relapsing inflammatory optic neuropathy | | | -| MONDO:0866374 | isolated optic neuritis | GARD:22039 | MONDO:equivalentTo | Isolated optic neuritis | | | -| MONDO:0866375 | recurrent idiopathic neuroretinitis | GARD:22040 | MONDO:equivalentTo | Recurrent idiopathic neuroretinitis | | | -| MONDO:0866376 | idiopathic optic perineuritis | GARD:22041 | MONDO:equivalentTo | Idiopathic optic perineuritis | | | -| MONDO:0866377 | pilomatrix carcinoma | GARD:22042 | MONDO:equivalentTo | Pilomatrix carcinoma | | | -| MONDO:0866378 | witteveen-kolk syndrome | GARD:22043 | MONDO:equivalentTo | Witteveen-Kolk syndrome | | | -| MONDO:0866379 | cochleovestibular malformation | GARD:22044 | MONDO:equivalentTo | Cochleovestibular malformation | | | -| MONDO:0866380 | cochlear nerve deficiency | GARD:22045 | MONDO:equivalentTo | Cochlear nerve deficiency | | | -| MONDO:0866381 | squamous cell carcinoma of oral cavity and lip | GARD:22046 | MONDO:equivalentTo | Squamous cell carcinoma of oral cavity and lip | | | -| MONDO:0866382 | metopic ridging-ptosis-facial dysmorphism syndrome | GARD:22047 | MONDO:equivalentTo | Metopic ridging-ptosis-facial dysmorphism syndrome | | | -| MONDO:0866383 | 4q25 proximal deletion syndrome | GARD:22048 | MONDO:equivalentTo | 4q25 proximal deletion syndrome | | | -| MONDO:0866384 | erythema multiforme major | GARD:22049 | MONDO:equivalentTo | Erythema multiforme major | | | -| MONDO:0866385 | 3-methylglutaconic aciduria type 8 | GARD:22050 | MONDO:equivalentTo | 3-methylglutaconic aciduria type 8 | | | -| MONDO:0866386 | ventilator-induced diaphragmatic dysfunction | GARD:22051 | MONDO:equivalentTo | Ventilator-induced diaphragmatic dysfunction | | | -| MONDO:0866387 | neuroendocrine neoplasm of pancreas | GARD:22052 | MONDO:equivalentTo | Neuroendocrine neoplasm of pancreas | | | -| MONDO:0866388 | functioning neuroendocrine tumor of pancreas | GARD:22053 | MONDO:equivalentTo | Functioning neuroendocrine tumor of pancreas | | | -| MONDO:0866389 | non-functioning neuroendocrine tumor of pancreas | GARD:22054 | MONDO:equivalentTo | Non-functioning neuroendocrine tumor of pancreas | | | -| MONDO:0866390 | serotonin-producing neuroendocrine tumor of pancreas | GARD:22055 | MONDO:equivalentTo | Serotonin-producing neuroendocrine tumor of pancreas | | | -| MONDO:0866391 | neuroendocrine carcinoma of pancreas | GARD:22056 | MONDO:equivalentTo | Neuroendocrine carcinoma of pancreas | | | -| MONDO:0866392 | mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas | GARD:22057 | MONDO:equivalentTo | Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas | | | -| MONDO:0866393 | neuroendocrine neoplasm of esophagus | GARD:22058 | MONDO:equivalentTo | Neuroendocrine neoplasm of esophagus | | | -| MONDO:0866394 | rare disorder potentially indicated for transplant | GARD:22059 | MONDO:equivalentTo | Rare disorder potentially indicated for transplant | | | -| MONDO:0866395 | rare disorder potentially indicated for liver transplant | GARD:22060 | MONDO:equivalentTo | Rare disorder potentially indicated for liver transplant | | | -| MONDO:0866396 | rare disorder potentially indicated for kidney transplant | GARD:22061 | MONDO:equivalentTo | Rare disorder potentially indicated for kidney transplant | | | -| MONDO:0866397 | rare disorder potentially indicated for bowel transplant | GARD:22062 | MONDO:equivalentTo | Rare disorder potentially indicated for bowel transplant | | | -| MONDO:0866398 | rare disorder potentially indicated for hematopoietic stem cell transplant | GARD:22063 | MONDO:equivalentTo | Rare disorder potentially indicated for hematopoietic stem cell transplant | | | -| MONDO:0866399 | rare disorder potentially indicated for lung transplant | GARD:22064 | MONDO:equivalentTo | Rare disorder potentially indicated for lung transplant | | | -| MONDO:0866400 | rare disorder potentially indicated for heart transplant | GARD:22065 | MONDO:equivalentTo | Rare disorder potentially indicated for heart transplant | | | -| MONDO:0866401 | stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome | GARD:22066 | MONDO:equivalentTo | Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome | | | -| MONDO:0866402 | familial intestinal malrotation | GARD:22067 | MONDO:equivalentTo | Familial intestinal malrotation | | | -| MONDO:0866403 | cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome | GARD:22068 | MONDO:equivalentTo | Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome | | | -| MONDO:0866404 | oral-facial-digital syndrome with short stature and brachymesophalangy | GARD:22069 | MONDO:equivalentTo | Oral-facial-digital syndrome with short stature and brachymesophalangy | | | -| MONDO:0866405 | exstrophy-epispadias complex | GARD:2207 | MONDO:equivalentTo | Exstrophy-epispadias complex | | | -| MONDO:0866406 | skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome | GARD:22070 | MONDO:equivalentTo | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | -| MONDO:0866407 | congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome | GARD:22071 | MONDO:equivalentTo | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | -| MONDO:0866408 | chronic lymphoproliferative disorder of natural killer cells | GARD:22072 | MONDO:equivalentTo | Chronic lymphoproliferative disorder of natural killer cells | | | -| MONDO:0866409 | large granular lymphocyte leukemia | GARD:22073 | MONDO:equivalentTo | Large granular lymphocyte leukemia | | | -| MONDO:0866410 | autosomal recessive epidermolytic ichthyosis | GARD:22074 | MONDO:equivalentTo | Autosomal recessive epidermolytic ichthyosis | | | -| MONDO:0866411 | congenital cerebellar ataxia due to rnu12 mutation | GARD:22075 | MONDO:equivalentTo | Congenital cerebellar ataxia due to RNU12 mutation | | | -| MONDO:0866412 | congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome | GARD:22076 | MONDO:equivalentTo | Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome | | | -| MONDO:0866413 | atp13a2-related parkinsonism | GARD:22077 | MONDO:equivalentTo | ATP13A2-related parkinsonism | | | -| MONDO:0866414 | inflammatory/autoimmune disorder involving the lacrimal system | GARD:22078 | MONDO:equivalentTo | Inflammatory/autoimmune disorder involving the lacrimal system | | | -| MONDO:0866415 | rare disorder of the ocular adnexa | GARD:22079 | MONDO:equivalentTo | Rare disorder of the ocular adnexa | | | -| MONDO:0866416 | rare disorder with ectropion | GARD:22080 | MONDO:equivalentTo | Rare disorder with ectropion | | | -| MONDO:0866417 | rare disorder with entropion | GARD:22081 | MONDO:equivalentTo | Rare disorder with entropion | | | -| MONDO:0866418 | structural developmental eye defect | GARD:22082 | MONDO:equivalentTo | Structural developmental eye defect | | | -| MONDO:0866419 | syndromic lacrimal system disorder | GARD:22083 | MONDO:equivalentTo | Syndromic lacrimal system disorder | | | -| MONDO:0866420 | anterior segment developmental abnormality with extraocular manifestations | GARD:22084 | MONDO:equivalentTo | Anterior segment developmental abnormality with extraocular manifestations | | | -| MONDO:0866421 | infective keratitis | GARD:22085 | MONDO:equivalentTo | Infective keratitis | | | -| MONDO:0866422 | rare conjunctivitis | GARD:22086 | MONDO:equivalentTo | Rare conjunctivitis | | | -| MONDO:0866423 | rare corneal disorder | GARD:22087 | MONDO:equivalentTo | Rare corneal disorder | | | -| MONDO:0866424 | rare disorder of the anterior segment of the eye | GARD:22088 | MONDO:equivalentTo | Rare disorder of the anterior segment of the eye | | | -| MONDO:0866425 | rare disorder of the pupil | GARD:22089 | MONDO:equivalentTo | Rare disorder of the pupil | | | -| MONDO:0866426 | rare disorder with corneal involvement as a major feature | GARD:22090 | MONDO:equivalentTo | Rare disorder with corneal involvement as a major feature | | | -| MONDO:0866427 | rare inflammatory/autoimmune corneal disorder | GARD:22091 | MONDO:equivalentTo | Rare inflammatory/autoimmune corneal disorder | | | -| MONDO:0866428 | syndromic ectopia lentis | GARD:22092 | MONDO:equivalentTo | Syndromic ectopia lentis | | | -| MONDO:0866429 | syndromic microspherophakia | GARD:22093 | MONDO:equivalentTo | Syndromic microspherophakia | | | -| MONDO:0866430 | rare disorder with pigmented sclera | GARD:22094 | MONDO:equivalentTo | Rare disorder with pigmented sclera | | | -| MONDO:0866431 | rare scleral disorder | GARD:22095 | MONDO:equivalentTo | Rare scleral disorder | | | -| MONDO:0866432 | isolated chorioretinal dystrophy | GARD:22096 | MONDO:equivalentTo | Isolated chorioretinal dystrophy | | | -| MONDO:0866433 | isolated macular dystrophy | GARD:22097 | MONDO:equivalentTo | Isolated macular dystrophy | | | -| MONDO:0866434 | isolated vitreoretinopathy | GARD:22098 | MONDO:equivalentTo | Isolated vitreoretinopathy | | | -| MONDO:0866435 | isolated progressive inherited retinal disorder | GARD:22099 | MONDO:equivalentTo | Isolated progressive inherited retinal disorder | | | -| MONDO:0866436 | dilated cardiomyopathy | GARD:221 | MONDO:equivalentTo | Dilated cardiomyopathy | | | -| MONDO:0866437 | rare choroidal disorder | GARD:22100 | MONDO:equivalentTo | Rare choroidal disorder | | | -| MONDO:0866438 | rare disorder of the posterior segment of the eye | GARD:22101 | MONDO:equivalentTo | Rare disorder of the posterior segment of the eye | | | -| MONDO:0866439 | rare macular disorder | GARD:22102 | MONDO:equivalentTo | Rare macular disorder | | | -| MONDO:0866440 | rare retinal disorder | GARD:22103 | MONDO:equivalentTo | Rare retinal disorder | | | -| MONDO:0866441 | rare retinal vasculopathy | GARD:22104 | MONDO:equivalentTo | Rare retinal vasculopathy | | | -| MONDO:0866442 | isolated stationary inherited retinal disorder | GARD:22105 | MONDO:equivalentTo | Isolated stationary inherited retinal disorder | | | -| MONDO:0866443 | syndromic chorioretinal dystrophy | GARD:22106 | MONDO:equivalentTo | Syndromic chorioretinal dystrophy | | | -| MONDO:0866444 | syndromic macular dystrophy | GARD:22107 | MONDO:equivalentTo | Syndromic macular dystrophy | | | -| MONDO:0866445 | syndromic inherited retinal disorder | GARD:22108 | MONDO:equivalentTo | Syndromic inherited retinal disorder | | | -| MONDO:0866446 | syndromic vitreoretinopathy | GARD:22109 | MONDO:equivalentTo | Syndromic vitreoretinopathy | | | -| MONDO:0866447 | rare disorder involving multiple structures of the eye | GARD:22110 | MONDO:equivalentTo | Rare disorder involving multiple structures of the eye | | | -| MONDO:0866448 | secondary early-onset glaucoma | GARD:22111 | MONDO:equivalentTo | Secondary early-onset glaucoma | | | -| MONDO:0866449 | congenital optic disc excavation | GARD:22112 | MONDO:equivalentTo | Congenital optic disc excavation | | | -| MONDO:0866450 | disorder with optic nerve compression | GARD:22113 | MONDO:equivalentTo | Disorder with optic nerve compression | | | -| MONDO:0866451 | pseudopapilledema | GARD:22114 | MONDO:equivalentTo | Pseudopapilledema | | | -| MONDO:0866452 | rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature | GARD:22115 | MONDO:equivalentTo | Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature | | | -| MONDO:0866453 | rare ophthalmic disorder with cortical involvement | GARD:22116 | MONDO:equivalentTo | Rare ophthalmic disorder with cortical involvement | | | -| MONDO:0866454 | rare disorder with optic disc malformation | GARD:22117 | MONDO:equivalentTo | Rare disorder with optic disc malformation | | | -| MONDO:0866455 | rare neuromuscular disorder with ocular motility/alignment anomaly | GARD:22118 | MONDO:equivalentTo | Rare neuromuscular disorder with ocular motility/alignment anomaly | | | -| MONDO:0866456 | rare ophthalmic disorder with cranial nerve involvement | GARD:22119 | MONDO:equivalentTo | Rare ophthalmic disorder with cranial nerve involvement | | | -| MONDO:0866457 | rare optic nerve disorder | GARD:22120 | MONDO:equivalentTo | Rare optic nerve disorder | | | -| MONDO:0866458 | rare trochlear nerve disorder | GARD:22121 | MONDO:equivalentTo | Rare trochlear nerve disorder | | | -| MONDO:0866459 | rare ocular motility/alignment disorder | GARD:22122 | MONDO:equivalentTo | Rare ocular motility/alignment disorder | | | -| MONDO:0866460 | isolated congenital entropion | GARD:22123 | MONDO:equivalentTo | Isolated congenital entropion | | | -| MONDO:0866461 | isolated blepharochalasis | GARD:22124 | MONDO:equivalentTo | Isolated blepharochalasis | | | -| MONDO:0866462 | isolated iridoschisis | GARD:22125 | MONDO:equivalentTo | Isolated iridoschisis | | | -| MONDO:0866463 | isolated microspherophakia | GARD:22126 | MONDO:equivalentTo | Isolated microspherophakia | | | -| MONDO:0866464 | isolated foveal hypoplasia | GARD:22127 | MONDO:equivalentTo | Isolated foveal hypoplasia | | | -| MONDO:0866465 | peripapillary staphyloma | GARD:22128 | MONDO:equivalentTo | Peripapillary staphyloma | | | -| MONDO:0866466 | isolated megalopapilla | GARD:22129 | MONDO:equivalentTo | Isolated megalopapilla | | | -| MONDO:0866467 | extrasystoles-short stature-hyperpigmentation-microcephaly syndrome | GARD:2213 | MONDO:equivalentTo | Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome | | | -| MONDO:0866468 | optic disc pit | GARD:22130 | MONDO:equivalentTo | Optic disc pit | | | -| MONDO:0866469 | thygeson superficial punctate keratitis | GARD:22131 | MONDO:equivalentTo | Thygeson superficial punctate keratitis | | | -| MONDO:0866470 | mooren ulcer | GARD:22132 | MONDO:equivalentTo | Mooren ulcer | | | -| MONDO:0866471 | terrien marginal degeneration | GARD:22133 | MONDO:equivalentTo | Terrien marginal degeneration | | | -| MONDO:0866472 | fungal keratitis | GARD:22134 | MONDO:equivalentTo | Fungal keratitis | | | -| MONDO:0866473 | rare disorder of the visual organs | GARD:22135 | MONDO:equivalentTo | Rare disorder of the visual organs | | | -| MONDO:0866474 | isolated inherited retinal disorder | GARD:22136 | MONDO:equivalentTo | Isolated inherited retinal disorder | | | -| MONDO:0866475 | radiation-induced plexopathy | GARD:22137 | MONDO:equivalentTo | Radiation-induced plexopathy | | | -| MONDO:0866476 | osteoradionecrosis of the mandible | GARD:22138 | MONDO:equivalentTo | Osteoradionecrosis of the mandible | | | -| MONDO:0866477 | radiation-induced disorder | GARD:22139 | MONDO:equivalentTo | Radiation-induced disorder | | | -| MONDO:0866478 | genetic primary orthostatic disorder | GARD:22140 | MONDO:equivalentTo | Genetic primary orthostatic disorder | | | -| MONDO:0866479 | primary orthostatic disorder | GARD:22141 | MONDO:equivalentTo | Primary orthostatic disorder | | | -| MONDO:0866480 | frontonasal dysplasia-bifid nose-upper limb anomalies syndrome | GARD:22142 | MONDO:equivalentTo | Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome | | | -| MONDO:0866481 | autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect | GARD:22143 | MONDO:equivalentTo | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | | | -| MONDO:0866482 | congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome | GARD:22144 | MONDO:equivalentTo | Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome | | | -| MONDO:0866483 | microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | GARD:22145 | MONDO:equivalentTo | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | | | -| MONDO:0866484 | lama5-related multisystemic syndrome | GARD:22146 | MONDO:equivalentTo | LAMA5-related multisystemic syndrome | | | -| MONDO:0866485 | primary autoimmune enteropathy | GARD:22147 | MONDO:equivalentTo | Primary autoimmune enteropathy | | | -| MONDO:0866486 | syndromic autoimmune enteropathy | GARD:22148 | MONDO:equivalentTo | Syndromic autoimmune enteropathy | | | -| MONDO:0866487 | rare genetic disorder of the visual organs | GARD:22149 | MONDO:equivalentTo | Rare genetic disorder of the visual organs | | | -| MONDO:0866488 | rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature | GARD:22150 | MONDO:equivalentTo | Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature | | | -| MONDO:0866489 | rare genetic ophthalmic disorder with cortical involvement | GARD:22151 | MONDO:equivalentTo | Rare genetic ophthalmic disorder with cortical involvement | | | -| MONDO:0866490 | rare genetic ophthalmic disorder with cranial nerve involvement | GARD:22152 | MONDO:equivalentTo | Rare genetic ophthalmic disorder with cranial nerve involvement | | | -| MONDO:0866491 | rare genetic optic nerve disorder | GARD:22153 | MONDO:equivalentTo | Rare genetic optic nerve disorder | | | -| MONDO:0866492 | congenital optic disc excavation of genetic origin | GARD:22154 | MONDO:equivalentTo | Congenital optic disc excavation of genetic origin | | | -| MONDO:0866493 | rare genetic ocular motility/alignment disorder | GARD:22155 | MONDO:equivalentTo | Rare genetic ocular motility/alignment disorder | | | -| MONDO:0866494 | rare genetic disorder with strabismus | GARD:22156 | MONDO:equivalentTo | Rare genetic disorder with strabismus | | | -| MONDO:0866495 | syndromic genetic disorder with strabismus | GARD:22157 | MONDO:equivalentTo | Syndromic genetic disorder with strabismus | | | -| MONDO:0866496 | rare genetic neuromuscular disorder with ocular motility/alignment anomaly | GARD:22158 | MONDO:equivalentTo | Rare genetic neuromuscular disorder with ocular motility/alignment anomaly | | | -| MONDO:0866497 | rare genetic disorder of the ocular adnexa | GARD:22159 | MONDO:equivalentTo | Rare genetic disorder of the ocular adnexa | | | -| MONDO:0866498 | eyebrow duplication-syndactyly syndrome | GARD:2216 | MONDO:equivalentTo | Eyebrow duplication-syndactyly syndrome | | | -| MONDO:0866499 | rare genetic palpebral disorder | GARD:22160 | MONDO:equivalentTo | Rare genetic palpebral disorder | | | -| MONDO:0866500 | rare genetic eyelid malposition disorder | GARD:22161 | MONDO:equivalentTo | Rare genetic eyelid malposition disorder | | | -| MONDO:0866501 | rare genetic disorder with entropion | GARD:22162 | MONDO:equivalentTo | Rare genetic disorder with entropion | | | -| MONDO:0866502 | rare genetic disorder of the lacrimal apparatus | GARD:22163 | MONDO:equivalentTo | Rare genetic disorder of the lacrimal apparatus | | | -| MONDO:0866503 | lacrimal drainage system anomaly of genetic origin | GARD:22164 | MONDO:equivalentTo | Lacrimal drainage system anomaly of genetic origin | | | -| MONDO:0866504 | structural developmental eye defect of genetic origin | GARD:22165 | MONDO:equivalentTo | Structural developmental eye defect of genetic origin | | | -| MONDO:0866505 | rare genetic disorder of the anterior segment of the eye | GARD:22166 | MONDO:equivalentTo | Rare genetic disorder of the anterior segment of the eye | | | -| MONDO:0866506 | anterior segment developmental anomaly of genetic origin | GARD:22167 | MONDO:equivalentTo | Anterior segment developmental anomaly of genetic origin | | | -| MONDO:0866507 | rare genetic disorder with conjunctival involvement as a major feature | GARD:22168 | MONDO:equivalentTo | Rare genetic disorder with conjunctival involvement as a major feature | | | -| MONDO:0866508 | rare genetic disorder with lens opacification | GARD:22169 | MONDO:equivalentTo | Rare genetic disorder with lens opacification | | | -| MONDO:0866509 | syndromic genetic cataract | GARD:22170 | MONDO:equivalentTo | Syndromic genetic cataract | | | -| MONDO:0866510 | lens size anomaly of genetic origin | GARD:22171 | MONDO:equivalentTo | Lens size anomaly of genetic origin | | | -| MONDO:0866511 | lens position anomaly of genetic origin | GARD:22172 | MONDO:equivalentTo | Lens position anomaly of genetic origin | | | -| MONDO:0866512 | syndromic genetic ectopia lentis | GARD:22173 | MONDO:equivalentTo | Syndromic genetic ectopia lentis | | | -| MONDO:0866513 | rare genetic corneal disorder | GARD:22174 | MONDO:equivalentTo | Rare genetic corneal disorder | | | -| MONDO:0866514 | rare genetic disorder with corneal involvement as a major feature | GARD:22175 | MONDO:equivalentTo | Rare genetic disorder with corneal involvement as a major feature | | | -| MONDO:0866515 | genetic corneal dystrophy | GARD:22176 | MONDO:equivalentTo | Genetic corneal dystrophy | | | -| MONDO:0866516 | genetic superficial corneal dystrophy | GARD:22177 | MONDO:equivalentTo | Genetic superficial corneal dystrophy | | | -| MONDO:0866517 | syndromic genetic keratoconus | GARD:22178 | MONDO:equivalentTo | Syndromic genetic keratoconus | | | -| MONDO:0866518 | rare genetic inflammatory/autoimmune corneal disorder | GARD:22179 | MONDO:equivalentTo | Rare genetic inflammatory/autoimmune corneal disorder | | | -| MONDO:0866519 | rare genetic disorder of the pupil | GARD:22180 | MONDO:equivalentTo | Rare genetic disorder of the pupil | | | -| MONDO:0866520 | rare genetic disorder of the posterior segment of the eye | GARD:22181 | MONDO:equivalentTo | Rare genetic disorder of the posterior segment of the eye | | | -| MONDO:0866521 | rare genetic retinal disorder | GARD:22182 | MONDO:equivalentTo | Rare genetic retinal disorder | | | -| MONDO:0866522 | rare genetic macular disorder | GARD:22183 | MONDO:equivalentTo | Rare genetic macular disorder | | | -| MONDO:0866523 | rare genetic retinal vasculopathy | GARD:22184 | MONDO:equivalentTo | Rare genetic retinal vasculopathy | | | -| MONDO:0866524 | rare genetic disorder involving multiple structures of the eye | GARD:22185 | MONDO:equivalentTo | Rare genetic disorder involving multiple structures of the eye | | | -| MONDO:0866525 | secondary early-onset glaucoma of genetic origin | GARD:22186 | MONDO:equivalentTo | Secondary early-onset glaucoma of genetic origin | | | -| MONDO:0866526 | rare genetic choroidal disorder | GARD:22187 | MONDO:equivalentTo | Rare genetic choroidal disorder | | | -| MONDO:0866527 | pediatric-onset glaucoma | GARD:22188 | MONDO:equivalentTo | Pediatric-onset glaucoma | | | -| MONDO:0866528 | genetic congenital malformation of the eye with glaucoma as a major feature | GARD:22189 | MONDO:equivalentTo | Genetic congenital malformation of the eye with glaucoma as a major feature | | | -| MONDO:0866529 | pediatric-onset graves disease | GARD:22190 | MONDO:equivalentTo | Pediatric-onset Graves disease | | | -| MONDO:0866530 | prepubertal anorexia nervosa | GARD:22191 | MONDO:equivalentTo | Prepubertal anorexia nervosa | | | -| MONDO:0866531 | encephalopathy due to mitochondrial and peroxisomal fission defect | GARD:22192 | MONDO:equivalentTo | Encephalopathy due to mitochondrial and peroxisomal fission defect | | | -| MONDO:0866532 | diaphragmatic hernia-short bowel-asplenia syndrome | GARD:22193 | MONDO:equivalentTo | Diaphragmatic hernia-short bowel-asplenia syndrome | | | -| MONDO:0866533 | hereditary angioedema with c1inh deficiency | GARD:22194 | MONDO:equivalentTo | Hereditary angioedema with C1Inh deficiency | | | -| MONDO:0866534 | hereditary angioedema with normal c1inh | GARD:22195 | MONDO:equivalentTo | Hereditary angioedema with normal C1Inh | | | -| MONDO:0866535 | acquired angioedema with c1inh deficiency | GARD:22196 | MONDO:equivalentTo | Acquired angioedema with C1Inh deficiency | | | -| MONDO:0866536 | acute bilirubin encephalopathy | GARD:22197 | MONDO:equivalentTo | Acute bilirubin encephalopathy | | | -| MONDO:0866537 | chronic bilirubin encephalopathy | GARD:22198 | MONDO:equivalentTo | Chronic bilirubin encephalopathy | | | -| MONDO:0866538 | letrozole toxicity | GARD:22199 | MONDO:equivalentTo | Letrozole toxicity | | | -| MONDO:0866539 | combined hepatocellular carcinoma and cholangiocarcinoma | GARD:22200 | MONDO:equivalentTo | Combined hepatocellular carcinoma and cholangiocarcinoma | | | -| MONDO:0866540 | secondary erythromelalgia | GARD:22201 | MONDO:equivalentTo | Secondary erythromelalgia | | | -| MONDO:0866541 | 17q24.2 microdeletion syndrome | GARD:22202 | MONDO:equivalentTo | 17q24.2 microdeletion syndrome | | | -| MONDO:0866542 | immune dysregulation with inflammatory bowel disease | GARD:22203 | MONDO:equivalentTo | Immune dysregulation with inflammatory bowel disease | | | -| MONDO:0866543 | immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome | GARD:22204 | MONDO:equivalentTo | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome | | | -| MONDO:0866544 | inflammatory bowel disease-recurrent sinopulmonary infections syndrome | GARD:22205 | MONDO:equivalentTo | Inflammatory bowel disease-recurrent sinopulmonary infections syndrome | | | -| MONDO:0866545 | dermoid or epidermoid cyst of the central nervous system | GARD:22206 | MONDO:equivalentTo | Dermoid or epidermoid cyst of the central nervous system | | | -| MONDO:0866546 | progressive myoclonic epilepsy with neuroserpin inclusion bodies | GARD:22207 | MONDO:equivalentTo | Progressive myoclonic epilepsy with neuroserpin inclusion bodies | | | -| MONDO:0866547 | progressive dementia with neuroserpin inclusion bodies | GARD:22208 | MONDO:equivalentTo | Progressive dementia with neuroserpin inclusion bodies | | | -| MONDO:0866548 | pik3ca-related overgrowth syndrome | GARD:22209 | MONDO:equivalentTo | PIK3CA-related overgrowth syndrome | | | -| MONDO:0866549 | facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome | GARD:2221 | MONDO:equivalentTo | Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome | | | -| MONDO:0866550 | rela fusion-positive ependymoma | GARD:22210 | MONDO:equivalentTo | RELA fusion-positive ependymoma | | | -| MONDO:0866551 | lamb-shaffer syndrome | GARD:22211 | MONDO:equivalentTo | Lamb-Shaffer syndrome | | | -| MONDO:0866552 | 9q21.13 microdeletion syndrome | GARD:22212 | MONDO:equivalentTo | 9q21.13 microdeletion syndrome | | | -| MONDO:0866553 | rasopathy | GARD:22213 | MONDO:equivalentTo | RASopathy | | | -| MONDO:0866554 | spondylodysplastic ehlers-danlos syndrome | GARD:22214 | MONDO:equivalentTo | Spondylodysplastic Ehlers-Danlos syndrome | | | -| MONDO:0866555 | myopathic ehlers-danlos syndrome | GARD:22215 | MONDO:equivalentTo | Myopathic Ehlers-Danlos syndrome | | | -| MONDO:0866556 | kyphoscoliotic ehlers-danlos syndrome due to lysyl hydroxylase 1 deficiency | GARD:22216 | MONDO:equivalentTo | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | | | -| MONDO:0866557 | plg-related hereditary angioedema with normal c1inh | GARD:22217 | MONDO:equivalentTo | PLG-related hereditary angioedema with normal C1Inh | | | -| MONDO:0866558 | congenital axonal neuropathy with encephalopathy | GARD:22218 | MONDO:equivalentTo | Congenital axonal neuropathy with encephalopathy | | | -| MONDO:0866559 | neurological channelopathy of the central nervous system due to a genetic chloride channel defect | GARD:22219 | MONDO:equivalentTo | Neurological channelopathy of the central nervous system due to a genetic chloride channel defect | | | -| MONDO:0866560 | facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome | GARD:2222 | MONDO:equivalentTo | Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome | | | -| MONDO:0866561 | classic pyoderma gangrenosum | GARD:22220 | MONDO:equivalentTo | Classic pyoderma gangrenosum | | | -| MONDO:0866562 | pustular pyoderma gangrenosum | GARD:22221 | MONDO:equivalentTo | Pustular pyoderma gangrenosum | | | -| MONDO:0866563 | bullous pyoderma gangrenosum | GARD:22222 | MONDO:equivalentTo | Bullous pyoderma gangrenosum | | | -| MONDO:0866564 | vegetative pyoderma gangrenosum | GARD:22223 | MONDO:equivalentTo | Vegetative pyoderma gangrenosum | | | -| MONDO:0866565 | anomalous aortic origin of the left coronary artery | GARD:22224 | MONDO:equivalentTo | Anomalous aortic origin of the left coronary artery | | | -| MONDO:0866566 | anomalous aortic origin of the right coronary artery | GARD:22225 | MONDO:equivalentTo | Anomalous aortic origin of the right coronary artery | | | -| MONDO:0866567 | anomalous aortic origin of coronary artery | GARD:22226 | MONDO:equivalentTo | Anomalous aortic origin of coronary artery | | | -| MONDO:0866568 | anomalous origin of coronary artery from the pulmonary artery | GARD:22227 | MONDO:equivalentTo | Anomalous origin of coronary artery from the pulmonary artery | | | -| MONDO:0866569 | car t cell therapy-associated cytokine release syndrome | GARD:22228 | MONDO:equivalentTo | CAR T cell therapy-associated cytokine release syndrome | | | -| MONDO:0866570 | quadricuspid aortic valve | GARD:22229 | MONDO:equivalentTo | Quadricuspid aortic valve | | | -| MONDO:0866571 | anomaly of the coronary ostia | GARD:22230 | MONDO:equivalentTo | Anomaly of the coronary ostia | | | -| MONDO:0866572 | optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | GARD:22231 | MONDO:equivalentTo | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | | | -| MONDO:0866573 | syngap1-related developmental and epileptic encephalopathy | GARD:22232 | MONDO:equivalentTo | SYNGAP1-related developmental and epileptic encephalopathy | | | -| MONDO:0866574 | hemolytic uremic syndrome | GARD:22233 | MONDO:equivalentTo | Hemolytic uremic syndrome | | | -| MONDO:0866575 | infection-related hemolytic uremic syndrome | GARD:22234 | MONDO:equivalentTo | Infection-related hemolytic uremic syndrome | | | -| MONDO:0866576 | streptococcus pneumoniae-associated hemolytic uremic syndrome | GARD:22235 | MONDO:equivalentTo | Streptococcus pneumoniae-associated hemolytic uremic syndrome | | | -| MONDO:0866577 | congenital primary megaureter, refluxing and obstructed form | GARD:22236 | MONDO:equivalentTo | Congenital primary megaureter, refluxing and obstructed form | | | -| MONDO:0866578 | collagen-related glomerular basement membrane disease | GARD:22237 | MONDO:equivalentTo | Collagen-related glomerular basement membrane disease | | | -| MONDO:0866579 | atypical fanconi syndrome-neonatal hyperinsulinism syndrome | GARD:22238 | MONDO:equivalentTo | Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome | | | -| MONDO:0866580 | fibrohistiocytic inflammatory pseudotumor of the liver | GARD:22239 | MONDO:equivalentTo | Fibrohistiocytic inflammatory pseudotumor of the liver | | | -| MONDO:0866581 | lymphoplasmacytic inflammatory pseudotumor of the liver | GARD:22240 | MONDO:equivalentTo | Lymphoplasmacytic inflammatory pseudotumor of the liver | | | -| MONDO:0866582 | congenital tricuspid valve dysplasia | GARD:22241 | MONDO:equivalentTo | Congenital tricuspid valve dysplasia | | | -| MONDO:0866583 | iga pemphigus | GARD:22242 | MONDO:equivalentTo | IgA pemphigus | | | -| MONDO:0866584 | early-onset familial hypoaldosteronism | GARD:22243 | MONDO:equivalentTo | Early-onset familial hypoaldosteronism | | | -| MONDO:0866585 | late-onset familial hypoaldosteronism | GARD:22244 | MONDO:equivalentTo | Late-onset familial hypoaldosteronism | | | -| MONDO:0866586 | rare disorder due to poisoning | GARD:22245 | MONDO:equivalentTo | Rare disorder due to poisoning | | | -| MONDO:0866587 | early-onset calcifying leukoencephalopathy-skeletal dysplasia | GARD:22246 | MONDO:equivalentTo | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | | | -| MONDO:0866588 | spastic ataxia-dysarthria due to glutaminase deficiency | GARD:22247 | MONDO:equivalentTo | Spastic ataxia-dysarthria due to glutaminase deficiency | | | -| MONDO:0866589 | rare disorder with hirschsprung disease as a major feature | GARD:22248 | MONDO:equivalentTo | Rare disorder with Hirschsprung disease as a major feature | | | -| MONDO:0866590 | idiopathic gastroparesis | GARD:22249 | MONDO:equivalentTo | Idiopathic gastroparesis | | | -| MONDO:0866591 | primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome | GARD:22250 | MONDO:equivalentTo | Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome | | | -| MONDO:0866592 | autoimmune hepatitis type 1 | GARD:22251 | MONDO:equivalentTo | Autoimmune hepatitis type 1 | | | -| MONDO:0866593 | autoimmune hepatitis type 2 | GARD:22252 | MONDO:equivalentTo | Autoimmune hepatitis type 2 | | | -| MONDO:0866594 | seronegative autoimmune hepatitis | GARD:22253 | MONDO:equivalentTo | Seronegative autoimmune hepatitis | | | -| MONDO:0866595 | isolated anencephaly | GARD:22254 | MONDO:equivalentTo | Isolated anencephaly | | | -| MONDO:0866596 | isolated exencephaly | GARD:22255 | MONDO:equivalentTo | Isolated exencephaly | | | -| MONDO:0866597 | serous cystadenoma of childhood | GARD:22256 | MONDO:equivalentTo | Serous cystadenoma of childhood | | | -| MONDO:0866598 | mucinous cystadenoma of childhood | GARD:22257 | MONDO:equivalentTo | Mucinous cystadenoma of childhood | | | -| MONDO:0866599 | seromucinous cystadenoma of childhood | GARD:22258 | MONDO:equivalentTo | Seromucinous cystadenoma of childhood | | | -| MONDO:0866600 | furuncular myiasis due to dermatobia hominis | GARD:22259 | MONDO:equivalentTo | Furuncular myiasis due to Dermatobia hominis | | | -| MONDO:0866601 | furuncular myiasis due to cordylobia anthropophaga | GARD:22260 | MONDO:equivalentTo | Furuncular myiasis due to Cordylobia anthropophaga | | | -| MONDO:0866602 | furuncular myiasis due to cordylobia rodhaini | GARD:22261 | MONDO:equivalentTo | Furuncular myiasis due to Cordylobia rodhaini | | | -| MONDO:0866603 | syndromic congenital sodium diarrhea | GARD:22262 | MONDO:equivalentTo | Syndromic congenital sodium diarrhea | | | -| MONDO:0866604 | isolated congenital aglossia | GARD:22263 | MONDO:equivalentTo | Isolated congenital aglossia | | | -| MONDO:0866605 | isolated congenital hypoglossia | GARD:22264 | MONDO:equivalentTo | Isolated congenital hypoglossia | | | -| MONDO:0866606 | genetic nephrotic syndrome | GARD:22265 | MONDO:equivalentTo | Genetic nephrotic syndrome | | | -| MONDO:0866607 | primary hypomagnesemia-refractory seizures-intellectual disability syndrome | GARD:22266 | MONDO:equivalentTo | Primary hypomagnesemia-refractory seizures-intellectual disability syndrome | | | -| MONDO:0866608 | triglyceride deposit cardiomyovasculopathy | GARD:22267 | MONDO:equivalentTo | Triglyceride deposit cardiomyovasculopathy | | | -| MONDO:0866609 | primary desmosis coli | GARD:22268 | MONDO:equivalentTo | Primary desmosis coli | | | -| MONDO:0866610 | methotrexate toxicity | GARD:22269 | MONDO:equivalentTo | Methotrexate toxicity | | | -| MONDO:0866611 | laminin subunit alpha 2-related limb-girdle muscular dystrophy r23 | GARD:22270 | MONDO:equivalentTo | Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 | | | -| MONDO:0866612 | pomgnt2-related limb-girdle muscular dystrophy r24 | GARD:22271 | MONDO:equivalentTo | POMGNT2-related limb-girdle muscular dystrophy R24 | | | -| MONDO:0866613 | calpain-3-related limb-girdle muscular dystrophy d4 | GARD:22272 | MONDO:equivalentTo | Calpain-3-related limb-girdle muscular dystrophy D4 | | | -| MONDO:0866614 | cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome | GARD:22273 | MONDO:equivalentTo | CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome | | | -| MONDO:0866615 | congenital autosomal recessive small-platelet thrombocytopenia | GARD:22274 | MONDO:equivalentTo | Congenital autosomal recessive small-platelet thrombocytopenia | | | -| MONDO:0866616 | resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha | GARD:22275 | MONDO:equivalentTo | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha | | | -| MONDO:0866617 | acute mast cell leukemia | GARD:22276 | MONDO:equivalentTo | Acute mast cell leukemia | | | -| MONDO:0866618 | chronic mast cell leukemia | GARD:22277 | MONDO:equivalentTo | Chronic mast cell leukemia | | | -| MONDO:0866619 | liver adenomatosis | GARD:22278 | MONDO:equivalentTo | Liver adenomatosis | | | -| MONDO:0866620 | aprosencephaly/atelencephaly spectrum | GARD:22279 | MONDO:equivalentTo | Aprosencephaly/atelencephaly spectrum | | | -| MONDO:0866621 | atelencephaly | GARD:22280 | MONDO:equivalentTo | Atelencephaly | | | -| MONDO:0866622 | aprosencephaly | GARD:22281 | MONDO:equivalentTo | Aprosencephaly | | | -| MONDO:0866623 | left sided atrial isomerism | GARD:22282 | MONDO:equivalentTo | Left sided atrial isomerism | | | -| MONDO:0866624 | mueller-weiss syndrome | GARD:22283 | MONDO:equivalentTo | Mueller-Weiss syndrome | | | -| MONDO:0866625 | b-cell immunodeficiency-limb anomaly-urogenital malformation syndrome | GARD:22284 | MONDO:equivalentTo | B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome | | | -| MONDO:0866626 | idiopathic non-lupus full-house nephropathy | GARD:22285 | MONDO:equivalentTo | Idiopathic non-lupus full-house nephropathy | | | -| MONDO:0866627 | idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance | GARD:22286 | MONDO:equivalentTo | Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance | | | -| MONDO:0866628 | idiopathic multidrug-resistant nephrotic syndrome | GARD:22287 | MONDO:equivalentTo | Idiopathic multidrug-resistant nephrotic syndrome | | | -| MONDO:0866629 | idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy | GARD:22288 | MONDO:equivalentTo | Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy | | | -| MONDO:0866630 | systemic disease with glomerulopathy as a major feature | GARD:22289 | MONDO:equivalentTo | Systemic disease with glomerulopathy as a major feature | | | -| MONDO:0866631 | lethal faciocardiomelic dysplasia | GARD:2229 | MONDO:equivalentTo | Lethal faciocardiomelic dysplasia | | | -| MONDO:0866632 | genetic systemic disease with glomerulopathy as a major feature | GARD:22290 | MONDO:equivalentTo | Genetic systemic disease with glomerulopathy as a major feature | | | -| MONDO:0866633 | non-genetic systemic disease with glomerulopathy as a major feature | GARD:22291 | MONDO:equivalentTo | Non-genetic systemic disease with glomerulopathy as a major feature | | | -| MONDO:0866634 | systemic vasculitis associated with glomerulopathy | GARD:22292 | MONDO:equivalentTo | Systemic vasculitis associated with glomerulopathy | | | -| MONDO:0866635 | disorder with multisystemic involvement and glomerulopathy | GARD:22293 | MONDO:equivalentTo | Disorder with multisystemic involvement and glomerulopathy | | | -| MONDO:0866636 | nephrotic syndrome without extrarenal manifestations | GARD:22294 | MONDO:equivalentTo | Nephrotic syndrome without extrarenal manifestations | | | -| MONDO:0866637 | parenteral nutrition-associated cholestasis | GARD:22295 | MONDO:equivalentTo | Parenteral nutrition-associated cholestasis | | | -| MONDO:0866638 | primary lymphedema without systemic or visceral involvement | GARD:22296 | MONDO:equivalentTo | Primary lymphedema without systemic or visceral involvement | | | -| MONDO:0866639 | primary lymphedema with systemic or visceral involvement | GARD:22297 | MONDO:equivalentTo | Primary lymphedema with systemic or visceral involvement | | | -| MONDO:0866640 | disorder with multisystemic involvement and primary lymphedema | GARD:22298 | MONDO:equivalentTo | Disorder with multisystemic involvement and primary lymphedema | | | -| MONDO:0866641 | gjc2-related late-onset primary lymphedema | GARD:22299 | MONDO:equivalentTo | GJC2-related late-onset primary lymphedema | | | -| MONDO:0866642 | vestibular schwannoma | GARD:223 | MONDO:equivalentTo | Vestibular schwannoma | | | -| MONDO:0866643 | faciocardiorenal syndrome | GARD:2230 | MONDO:equivalentTo | Faciocardiorenal syndrome | | | -| MONDO:0866644 | warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome | GARD:22300 | MONDO:equivalentTo | Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome | | | -| MONDO:0866645 | piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis | GARD:22301 | MONDO:equivalentTo | PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis | | | -| MONDO:0866646 | ephb4-related lymphatic-related hydrops fetalis | GARD:22302 | MONDO:equivalentTo | EPHB4-related lymphatic-related hydrops fetalis | | | -| MONDO:0866647 | angiomatoid fibrous histiocytoma | GARD:22303 | MONDO:equivalentTo | Angiomatoid fibrous histiocytoma | | | -| MONDO:0866648 | microcystic stromal tumor | GARD:22304 | MONDO:equivalentTo | Microcystic stromal tumor | | | -| MONDO:0866649 | multiple mitochondrial dysfunctions syndrome type 5 | GARD:22305 | MONDO:equivalentTo | Multiple mitochondrial dysfunctions syndrome type 5 | | | -| MONDO:0866650 | celsr1-related late-onset primary lymphedema | GARD:22306 | MONDO:equivalentTo | CELSR1-related late-onset primary lymphedema | | | -| MONDO:0866651 | congenital primary lymphedema of gordon | GARD:22307 | MONDO:equivalentTo | Congenital primary lymphedema of Gordon | | | -| MONDO:0866652 | bartter syndrome type 5 | GARD:22308 | MONDO:equivalentTo | Bartter syndrome type 5 | | | -| MONDO:0866653 | idiopathic multicentric castleman disease | GARD:22309 | MONDO:equivalentTo | Idiopathic multicentric Castleman disease | | | -| MONDO:0866654 | hhv-8-associated multicentric castleman disease | GARD:22310 | MONDO:equivalentTo | HHV-8-associated multicentric Castleman disease | | | -| MONDO:0866655 | ricin poisoning | GARD:22311 | MONDO:equivalentTo | Ricin poisoning | | | -| MONDO:0866656 | blepharophimosis-ptosis-epicanthus inversus syndrome plus | GARD:22312 | MONDO:equivalentTo | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | | | -| MONDO:0866657 | infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia | GARD:22313 | MONDO:equivalentTo | Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia | | | -| MONDO:0866658 | donson-related microcephaly-short stature-limb abnormalities spectrum | GARD:22314 | MONDO:equivalentTo | DONSON-related microcephaly-short stature-limb abnormalities spectrum | | | -| MONDO:0866659 | pheochromocytoma-paraganglioma | GARD:22315 | MONDO:equivalentTo | Pheochromocytoma-paraganglioma | | | -| MONDO:0866660 | split cord malformation type ii | GARD:22316 | MONDO:equivalentTo | Split cord malformation type II | | | -| MONDO:0866661 | split cord malformation | GARD:22317 | MONDO:equivalentTo | Split cord malformation | | | -| MONDO:0866662 | predisposition to severe viral infection due to irf7 deficiency | GARD:22318 | MONDO:equivalentTo | Predisposition to severe viral infection due to IRF7 deficiency | | | -| MONDO:0866663 | autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | GARD:22319 | MONDO:equivalentTo | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency | | | -| MONDO:0866664 | cathepsin a-related arteriopathy-strokes-leukoencephalopathy | GARD:22320 | MONDO:equivalentTo | Cathepsin A-related arteriopathy-strokes-leukoencephalopathy | | | -| MONDO:0866665 | middle east respiratory syndrome | GARD:22321 | MONDO:equivalentTo | Middle East respiratory syndrome | | | -| MONDO:0866666 | complete atrioventricular septal defect without ventricular hypoplasia | GARD:22322 | MONDO:equivalentTo | Complete atrioventricular septal defect without ventricular hypoplasia | | | -| MONDO:0866667 | partial atrioventricular septal defect with ventricular hypoplasia | GARD:22323 | MONDO:equivalentTo | Partial atrioventricular septal defect with ventricular hypoplasia | | | -| MONDO:0866668 | partial atrioventricular septal defect without ventricular hypoplasia | GARD:22324 | MONDO:equivalentTo | Partial atrioventricular septal defect without ventricular hypoplasia | | | -| MONDO:0866669 | intermediate atrioventricular septal defect | GARD:22325 | MONDO:equivalentTo | Intermediate atrioventricular septal defect | | | -| MONDO:0866670 | satb2-associated syndrome | GARD:22326 | MONDO:equivalentTo | SATB2-associated syndrome | | | -| MONDO:0866671 | sporadic human prion disease | GARD:22327 | MONDO:equivalentTo | Sporadic human prion disease | | | -| MONDO:0866672 | acquired human prion disease | GARD:22328 | MONDO:equivalentTo | Acquired human prion disease | | | -| MONDO:0866673 | iatrogenic creutzfeldt-jakob disease | GARD:22329 | MONDO:equivalentTo | Iatrogenic Creutzfeldt-Jakob disease | | | -| MONDO:0866674 | genetic hemolytic uremic syndrome | GARD:22330 | MONDO:equivalentTo | Genetic hemolytic uremic syndrome | | | -| MONDO:0866675 | intraductal tubulopapillary neoplasm of pancreas | GARD:22331 | MONDO:equivalentTo | Intraductal tubulopapillary neoplasm of pancreas | | | -| MONDO:0866676 | lethal brain and heart developmental defects | GARD:22332 | MONDO:equivalentTo | Lethal brain and heart developmental defects | | | -| MONDO:0866677 | congenital infiltrating lipomatosis of the face | GARD:22333 | MONDO:equivalentTo | Congenital infiltrating lipomatosis of the face | | | -| MONDO:0866678 | serine biosynthesis pathway deficiency, infantile/juvenile form | GARD:22334 | MONDO:equivalentTo | Serine biosynthesis pathway deficiency, infantile/juvenile form | | | -| MONDO:0866679 | neu-laxova syndrome due to phosphoserine aminotransferase deficiency | GARD:22335 | MONDO:equivalentTo | Neu-laxova syndrome due to phosphoserine aminotransferase deficiency | | | -| MONDO:0866680 | neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency | GARD:22336 | MONDO:equivalentTo | Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency | | | -| MONDO:0866681 | neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency | GARD:22337 | MONDO:equivalentTo | Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency | | | -| MONDO:0866682 | isolated splenic vein thrombosis | GARD:22338 | MONDO:equivalentTo | Isolated splenic vein thrombosis | | | -| MONDO:0866683 | isolated mesenteric vein thrombosis | GARD:22339 | MONDO:equivalentTo | Isolated mesenteric vein thrombosis | | | -| MONDO:0866684 | acute myeloid leukemia with t(9;22)(q34.1;q11.2) | GARD:22340 | MONDO:equivalentTo | Acute myeloid leukemia with t(9;22)(q34.1;q11.2) | | | -| MONDO:0866685 | b-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | GARD:22341 | MONDO:equivalentTo | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | | | -| MONDO:0866686 | b-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | GARD:22342 | MONDO:equivalentTo | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | | | -| MONDO:0866687 | b-lymphoblastic leukemia/lymphoma with t(v;11q23.3) | GARD:22343 | MONDO:equivalentTo | B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) | | | -| MONDO:0866688 | b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) | GARD:22344 | MONDO:equivalentTo | B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) | | | -| MONDO:0866689 | b-lymphoblastic leukemia/lymphoma with hyperdiploidy | GARD:22345 | MONDO:equivalentTo | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | | | -| MONDO:0866690 | b-lymphoblastic leukemia/lymphoma with hypodiploidy | GARD:22346 | MONDO:equivalentTo | B-lymphoblastic leukemia/lymphoma with hypodiploidy | | | -| MONDO:0866691 | b-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) | GARD:22347 | MONDO:equivalentTo | B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) | | | -| MONDO:0866692 | b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | GARD:22348 | MONDO:equivalentTo | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | | | -| MONDO:0866693 | sporadic fatal insomnia | GARD:22349 | MONDO:equivalentTo | Sporadic fatal insomnia | | | -| MONDO:0866694 | short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome | GARD:22350 | MONDO:equivalentTo | Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome | | | -| MONDO:0866695 | pum1-associated developmental disability-ataxia-seizure syndrome | GARD:22351 | MONDO:equivalentTo | PUM1-associated developmental disability-ataxia-seizure syndrome | | | -| MONDO:0866696 | spinocerebellar ataxia type 46 | GARD:22352 | MONDO:equivalentTo | Spinocerebellar ataxia type 46 | | | -| MONDO:0866697 | spinocerebellar ataxia type 45 | GARD:22353 | MONDO:equivalentTo | Spinocerebellar ataxia type 45 | | | -| MONDO:0866698 | mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | GARD:22354 | MONDO:equivalentTo | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | | | -| MONDO:0866699 | myeloid/lymphoid neoplasm associated with jak2 rearrangement | GARD:22355 | MONDO:equivalentTo | Myeloid/lymphoid neoplasm associated with JAK2 rearrangement | | | -| MONDO:0866700 | grin2b-related developmental delay, intellectual disability and autism spectrum disorder | GARD:22356 | MONDO:equivalentTo | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder | | | -| MONDO:0866701 | mixed phenotype acute leukemia with t(v;11q23.3) | GARD:22357 | MONDO:equivalentTo | Mixed phenotype acute leukemia with t(v;11q23.3) | | | -| MONDO:0866702 | linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | GARD:22358 | MONDO:equivalentTo | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | | | -| MONDO:0866703 | dystonia 28 | GARD:22359 | MONDO:equivalentTo | Dystonia 28 | | | -| MONDO:0866704 | inherited gynecological cancer-predisposing syndrome | GARD:22360 | MONDO:equivalentTo | Inherited gynecological cancer-predisposing syndrome | | | -| MONDO:0866705 | congenital-onset steinert myotonic dystrophy | GARD:22361 | MONDO:equivalentTo | Congenital-onset Steinert myotonic dystrophy | | | -| MONDO:0866706 | childhood-onset steinert myotonic dystrophy | GARD:22362 | MONDO:equivalentTo | Childhood-onset Steinert myotonic dystrophy | | | -| MONDO:0866707 | juvenile-onset steinert myotonic dystrophy | GARD:22363 | MONDO:equivalentTo | Juvenile-onset Steinert myotonic dystrophy | | | -| MONDO:0866708 | adult-onset steinert myotonic dystrophy | GARD:22364 | MONDO:equivalentTo | Adult-onset Steinert myotonic dystrophy | | | -| MONDO:0866709 | late-onset steinert myotonic dystrophy | GARD:22365 | MONDO:equivalentTo | Late-onset Steinert myotonic dystrophy | | | -| MONDO:0866710 | choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | GARD:22366 | MONDO:equivalentTo | Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | | | -| MONDO:0866711 | phip-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | GARD:22367 | MONDO:equivalentTo | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | -| MONDO:0866712 | isolated melanotic schwannoma | GARD:22368 | MONDO:equivalentTo | Isolated melanotic schwannoma | | | -| MONDO:0866713 | gnao1-related developmental delay-seizures-movement disorder spectrum | GARD:22369 | MONDO:equivalentTo | GNAO1-related developmental delay-seizures-movement disorder spectrum | | | -| MONDO:0866714 | congenital factor v deficiency | GARD:2237 | MONDO:equivalentTo | Congenital factor V deficiency | | | -| MONDO:0866715 | traf7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | GARD:22370 | MONDO:equivalentTo | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | | | -| MONDO:0866716 | menke-hennekam syndrome | GARD:22371 | MONDO:equivalentTo | Menke-Hennekam syndrome | | | -| MONDO:0866717 | neuromyelitis optica spectrum disorder with anti-aqp4 antibodies | GARD:22372 | MONDO:equivalentTo | Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies | | | -| MONDO:0866718 | neuromyelitis optica spectrum disorder with anti-mog antibodies | GARD:22373 | MONDO:equivalentTo | Neuromyelitis optica spectrum disorder with anti-MOG antibodies | | | -| MONDO:0866719 | neuromyelitis optica spectrum disorder without anti-mog and without anti-aqp4 antibodies | GARD:22374 | MONDO:equivalentTo | Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies | | | -| MONDO:0866720 | acute transverse myelitis with anti-mog antibodies | GARD:22375 | MONDO:equivalentTo | Acute transverse myelitis with anti-MOG antibodies | | | -| MONDO:0866721 | isolated optic neuritis without anti-mog antibodies | GARD:22376 | MONDO:equivalentTo | Isolated optic neuritis without anti-MOG antibodies | | | -| MONDO:0866722 | isolated optic neuritis with anti-mog antibodies | GARD:22377 | MONDO:equivalentTo | Isolated optic neuritis with anti-MOG antibodies | | | -| MONDO:0866723 | acute disseminated encephalomyelitis with anti-mog antibodies | GARD:22378 | MONDO:equivalentTo | Acute disseminated encephalomyelitis with anti-MOG antibodies | | | -| MONDO:0866724 | acute disseminated encephalomyelitis without anti-mog antibodies | GARD:22379 | MONDO:equivalentTo | Acute disseminated encephalomyelitis without anti-MOG antibodies | | | -| MONDO:0866725 | congenital factor vii deficiency | GARD:2238 | MONDO:equivalentTo | Congenital factor VII deficiency | | | -| MONDO:0866726 | timothy syndrome type 1 | GARD:22380 | MONDO:equivalentTo | Timothy syndrome type 1 | | | -| MONDO:0866727 | timothy syndrome type 2 | GARD:22381 | MONDO:equivalentTo | Timothy syndrome type 2 | | | -| MONDO:0866728 | atypical timothy syndrome | GARD:22382 | MONDO:equivalentTo | Atypical Timothy syndrome | | | -| MONDO:0866729 | perivascular epithelioid cell neoplasm | GARD:22383 | MONDO:equivalentTo | Perivascular epithelioid cell neoplasm | | | -| MONDO:0866730 | fibrous dysplasia/mccune-albright syndrome | GARD:22384 | MONDO:equivalentTo | Fibrous dysplasia/McCune-Albright syndrome | | | -| MONDO:0866731 | adrenal hypoplasia congenita | GARD:22385 | MONDO:equivalentTo | Adrenal hypoplasia congenita | | | -| MONDO:0866732 | epidermolysis bullosa simplex without extracutaneous involvement | GARD:22386 | MONDO:equivalentTo | Epidermolysis bullosa simplex without extracutaneous involvement | | | -| MONDO:0866733 | epidermolysis bullosa simplex with extracutaneous involvement | GARD:22387 | MONDO:equivalentTo | Epidermolysis bullosa simplex with extracutaneous involvement | | | -| MONDO:0866734 | localized dystrophic epidermolysis bullosa | GARD:22388 | MONDO:equivalentTo | Localized dystrophic epidermolysis bullosa | | | -| MONDO:0866735 | antley-bixler syndrome without genital anomaly or disorder of steroidogenesis | GARD:22389 | MONDO:equivalentTo | Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis | | | -| MONDO:0866736 | syndrome of reduced sensitivity to thyroid hormone | GARD:22390 | MONDO:equivalentTo | Syndrome of reduced sensitivity to thyroid hormone | | | -| MONDO:0866737 | igg4-related systemic disease | GARD:22391 | MONDO:equivalentTo | IgG4-related systemic disease | | | -| MONDO:0866738 | combined immunodeficiency due to rela haploinsufficiency | GARD:22392 | MONDO:equivalentTo | Combined immunodeficiency due to RELA haploinsufficiency | | | -| MONDO:0866739 | portosinusoidal vascular disease | GARD:22393 | MONDO:equivalentTo | Portosinusoidal vascular disease | | | -| MONDO:0866740 | incomplete septal cirrhosis | GARD:22394 | MONDO:equivalentTo | Incomplete septal cirrhosis | | | -| MONDO:0866741 | trim22-related inflammatory bowel disease | GARD:22395 | MONDO:equivalentTo | TRIM22-related inflammatory bowel disease | | | -| MONDO:0866742 | irf2bpl-related regressive neurodevelopmental disorder-dystonia-seizures syndrome | GARD:22396 | MONDO:equivalentTo | IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome | | | -| MONDO:0866743 | setd2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome | GARD:22397 | MONDO:equivalentTo | SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome | | | -| MONDO:0866744 | blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome | GARD:22398 | MONDO:equivalentTo | Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome | | | -| MONDO:0866745 | kat6b-related multiple congenital anomalies syndrome | GARD:22399 | MONDO:equivalentTo | KAT6B-related multiple congenital anomalies syndrome | | | -| MONDO:0866746 | radio-renal syndrome | GARD:224 | MONDO:equivalentTo | Radio-renal syndrome | | | -| MONDO:0866747 | alpi-related inflammatory bowel disease | GARD:22400 | MONDO:equivalentTo | ALPI-related inflammatory bowel disease | | | -| MONDO:0866748 | euthyroid dysprealbuminemic hyperthyroxinemia | GARD:22401 | MONDO:equivalentTo | Euthyroid dysprealbuminemic hyperthyroxinemia | | | -| MONDO:0866749 | foxg1 syndrome due to intragenic alteration | GARD:22402 | MONDO:equivalentTo | FOXG1 syndrome due to intragenic alteration | | | -| MONDO:0866750 | multisystem inflammatory syndrome in children and adults | GARD:22403 | MONDO:equivalentTo | Multisystem inflammatory syndrome in children and adults | | | -| MONDO:0866751 | stxbp1-related encephalopathy | GARD:22404 | MONDO:equivalentTo | STXBP1-related encephalopathy | | | -| MONDO:0866752 | hypomyelination of early myelinating structures | GARD:22405 | MONDO:equivalentTo | Hypomyelination of early myelinating structures | | | -| MONDO:0866753 | hereditary angioedema with normal c1inh not related to f12 or plg variant | GARD:22406 | MONDO:equivalentTo | Hereditary angioedema with normal C1Inh not related to F12 or PLG variant | | | -| MONDO:0866754 | acquired hemophilia b | GARD:22407 | MONDO:equivalentTo | Acquired hemophilia B | | | -| MONDO:0866755 | acquired factor v deficiency | GARD:22408 | MONDO:equivalentTo | Acquired factor V deficiency | | | -| MONDO:0866756 | acquired factor vii deficiency | GARD:22409 | MONDO:equivalentTo | Acquired factor VII deficiency | | | -| MONDO:0866757 | acquired factor x deficiency | GARD:22410 | MONDO:equivalentTo | Acquired factor X deficiency | | | -| MONDO:0866758 | acquired factor xi deficiency | GARD:22411 | MONDO:equivalentTo | Acquired factor XI deficiency | | | -| MONDO:0866759 | acquired factor xiii deficiency | GARD:22412 | MONDO:equivalentTo | Acquired factor XIII deficiency | | | -| MONDO:0866760 | factor v short isoforms-related bleeding disorder | GARD:22413 | MONDO:equivalentTo | Factor V short isoforms-related bleeding disorder | | | -| MONDO:0866761 | factor v amsterdam bleeding disorder | GARD:22414 | MONDO:equivalentTo | Factor V Amsterdam bleeding disorder | | | -| MONDO:0866762 | factor v atlanta bleeding disorder | GARD:22415 | MONDO:equivalentTo | Factor V Atlanta bleeding disorder | | | -| MONDO:0866763 | nrxn1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance | GARD:22416 | MONDO:equivalentTo | NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance | | | -| MONDO:0866764 | ccnk-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome | GARD:22417 | MONDO:equivalentTo | CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome | | | -| MONDO:0866765 | combined deficiency of factor vii and factor x | GARD:22418 | MONDO:equivalentTo | Combined deficiency of factor VII and factor X | | | -| MONDO:0866766 | legionellosis | GARD:22419 | MONDO:equivalentTo | Legionellosis | | | -| MONDO:0866767 | non-syndromic anorectal malformation with perineal fistula | GARD:22420 | MONDO:equivalentTo | Non-syndromic anorectal malformation with perineal fistula | | | -| MONDO:0866768 | non-syndromic anorectal malformation with rectourethral fistula | GARD:22421 | MONDO:equivalentTo | Non-syndromic anorectal malformation with rectourethral fistula | | | -| MONDO:0866769 | non-syndromic anorectal malformation with rectourethral fistula, bulbar type | GARD:22422 | MONDO:equivalentTo | Non-syndromic anorectal malformation with rectourethral fistula, bulbar type | | | -| MONDO:0866770 | non-syndromic anorectal malformation with rectourethral fistula, prostatic type | GARD:22423 | MONDO:equivalentTo | Non-syndromic anorectal malformation with rectourethral fistula, prostatic type | | | -| MONDO:0866771 | non-syndromic anorectal malformation with rectovesical fistula | GARD:22424 | MONDO:equivalentTo | Non-syndromic anorectal malformation with rectovesical fistula | | | -| MONDO:0866772 | non-syndromic anorectal malformation with vestibular fistula | GARD:22425 | MONDO:equivalentTo | Non-syndromic anorectal malformation with vestibular fistula | | | -| MONDO:0866773 | non-syndromic cloacal malformation | GARD:22426 | MONDO:equivalentTo | Non-syndromic cloacal malformation | | | -| MONDO:0866774 | non-syndromic anorectal malformation without fistula | GARD:22427 | MONDO:equivalentTo | Non-syndromic anorectal malformation without fistula | | | -| MONDO:0866775 | non-syndromic anorectal malformation with anal stenosis | GARD:22428 | MONDO:equivalentTo | Non-syndromic anorectal malformation with anal stenosis | | | -| MONDO:0866776 | non-syndromic anorectal malformation with pouch colon | GARD:22429 | MONDO:equivalentTo | Non-syndromic anorectal malformation with pouch colon | | | -| MONDO:0866777 | non-syndromic anorectal malformation with rectal atresia | GARD:22430 | MONDO:equivalentTo | Non-syndromic anorectal malformation with rectal atresia | | | -| MONDO:0866778 | non-syndromic anorectal malformation with rectal stenosis | GARD:22431 | MONDO:equivalentTo | Non-syndromic anorectal malformation with rectal stenosis | | | -| MONDO:0866779 | non-syndromic anorectal malformation with rectovaginal fistula | GARD:22432 | MONDO:equivalentTo | Non-syndromic anorectal malformation with rectovaginal fistula | | | -| MONDO:0866780 | non-syndromic anorectal malformation with h-type fistula | GARD:22433 | MONDO:equivalentTo | Non-syndromic anorectal malformation with H-type fistula | | | -| MONDO:0866781 | isolated female hypospadias | GARD:22434 | MONDO:equivalentTo | Isolated female hypospadias | | | -| MONDO:0866782 | klhl7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome | GARD:22435 | MONDO:equivalentTo | KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome | | | -| MONDO:0866783 | klhl7-related bohring-opitz-like syndrome | GARD:22436 | MONDO:equivalentTo | KLHL7-related Bohring-Opitz-like syndrome | | | -| MONDO:0866784 | klhl7-related cold-induced sweating-like syndrome | GARD:22437 | MONDO:equivalentTo | KLHL7-related cold-induced sweating-like syndrome | | | -| MONDO:0866785 | klhl7-related disorder | GARD:22438 | MONDO:equivalentTo | KLHL7-related disorder | | | -| MONDO:0866786 | symptomatic form of x-linked centronuclear myopathy in female carriers | GARD:22439 | MONDO:equivalentTo | Symptomatic form of X-linked centronuclear myopathy in female carriers | | | -| MONDO:0866787 | rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome | GARD:22440 | MONDO:equivalentTo | Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome | | | -| MONDO:0866788 | genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability | GARD:22441 | MONDO:equivalentTo | Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability | | | -| MONDO:0866789 | granuloma faciale | GARD:22442 | MONDO:equivalentTo | Granuloma faciale | | | -| MONDO:0866790 | chronic intervillositis of unknown etiology | GARD:22443 | MONDO:equivalentTo | Chronic intervillositis of unknown etiology | | | -| MONDO:0866791 | rare disorder without a determined diagnosis after full investigation | GARD:22444 | MONDO:equivalentTo | Rare disorder without a determined diagnosis after full investigation | | | -| MONDO:0866792 | twin anemia-polycythemia sequence | GARD:22445 | MONDO:equivalentTo | Twin anemia-polycythemia sequence | | | -| MONDO:0866793 | twin-reversed arterial perfusion sequence | GARD:22446 | MONDO:equivalentTo | Twin-reversed arterial perfusion sequence | | | -| MONDO:0866794 | selective intrauterine growth restriction | GARD:22447 | MONDO:equivalentTo | Selective intrauterine growth restriction | | | -| MONDO:0866795 | amniotic fluid embolism | GARD:22448 | MONDO:equivalentTo | Amniotic fluid embolism | | | -| MONDO:0866796 | rare disorder related to monochorionic twin pregnancy | GARD:22449 | MONDO:equivalentTo | Rare disorder related to monochorionic twin pregnancy | | | -| MONDO:0866797 | tetralogy of fallot | GARD:2245 | MONDO:equivalentTo | Tetralogy of Fallot | | | -| MONDO:0866798 | rare disorder due to unbalanced inter-twin blood transfusion | GARD:22450 | MONDO:equivalentTo | Rare disorder due to unbalanced inter-twin blood transfusion | | | -| MONDO:0866799 | rare disorder due to inadequate sharing of the placenta | GARD:22451 | MONDO:equivalentTo | Rare disorder due to inadequate sharing of the placenta | | | -| MONDO:0866800 | classic eosinophilic pustular folliculitis | GARD:22452 | MONDO:equivalentTo | Classic eosinophilic pustular folliculitis | | | -| MONDO:0866801 | congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome | GARD:22453 | MONDO:equivalentTo | Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome | | | -| MONDO:0866802 | f12-associated cold autoinflammatory syndrome | GARD:22454 | MONDO:equivalentTo | F12-associated cold autoinflammatory syndrome | | | -| MONDO:0866803 | hemophilia b leyden | GARD:22455 | MONDO:equivalentTo | Hemophilia B Leyden | | | -| MONDO:0866804 | chronic neurovisceral acid sphingomyelinase deficiency | GARD:22456 | MONDO:equivalentTo | Chronic neurovisceral acid sphingomyelinase deficiency | | | -| MONDO:0866805 | acid sphingomyelinase deficiency | GARD:22457 | MONDO:equivalentTo | Acid sphingomyelinase deficiency | | | -| MONDO:0866806 | hereditary persistence of fetal hemoglobin-intellectual disability syndrome | GARD:22458 | MONDO:equivalentTo | Hereditary persistence of fetal hemoglobin-intellectual disability syndrome | | | -| MONDO:0866807 | rare hereditary connective tissue disease | GARD:22459 | MONDO:equivalentTo | Rare hereditary connective tissue disease | | | -| MONDO:0866808 | narcolepsy | GARD:22460 | MONDO:equivalentTo | Narcolepsy | | | -| MONDO:0866809 | inherited hematologic cancer-predisposing syndrome | GARD:22461 | MONDO:equivalentTo | Inherited hematologic cancer-predisposing syndrome | | | -| MONDO:0866810 | neonatal-onset severe multisystemic autoinflammatory disease with increased il18 | GARD:22462 | MONDO:equivalentTo | Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 | | | -| MONDO:0866811 | samd9l-associated autoinflammatory syndrome | GARD:22463 | MONDO:equivalentTo | SAMD9L-associated autoinflammatory syndrome | | | -| MONDO:0866812 | immune deficiency due to impaired neutrophil phagocytosis and migration | GARD:22464 | MONDO:equivalentTo | Immune deficiency due to impaired neutrophil phagocytosis and migration | | | -| MONDO:0866813 | early-onset autoimmunity-autoinflammation-immunodeficiency syndrome | GARD:22465 | MONDO:equivalentTo | Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome | | | -| MONDO:0866814 | familial hyperinflammatory lymphoproliferative immunodeficiency | GARD:22466 | MONDO:equivalentTo | Familial hyperinflammatory lymphoproliferative immunodeficiency | | | -| MONDO:0866815 | cadins disease | GARD:22467 | MONDO:equivalentTo | CADINS disease | | | -| MONDO:0866816 | developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome | GARD:22468 | MONDO:equivalentTo | Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome | | | -| MONDO:0866817 | non-syndromic unisutural craniosynostosis | GARD:22469 | MONDO:equivalentTo | Non-syndromic unisutural craniosynostosis | | | -| MONDO:0866818 | non-syndromic unicoronal craniosynostosis | GARD:22470 | MONDO:equivalentTo | Non-syndromic unicoronal craniosynostosis | | | -| MONDO:0866819 | non-syndromic unilambdoid craniosynostosis | GARD:22471 | MONDO:equivalentTo | Non-syndromic unilambdoid craniosynostosis | | | -| MONDO:0866820 | non-syndromic unifrontosphenoidal craniosynostosis | GARD:22472 | MONDO:equivalentTo | Non-syndromic unifrontosphenoidal craniosynostosis | | | -| MONDO:0866821 | non-syndromic unisquamosal craniosynostosis | GARD:22473 | MONDO:equivalentTo | Non-syndromic unisquamosal craniosynostosis | | | -| MONDO:0866822 | non-syndromic multisutural craniosynostosis | GARD:22474 | MONDO:equivalentTo | Non-syndromic multisutural craniosynostosis | | | -| MONDO:0866823 | non-syndromic non-specific multisutural craniosynostosis | GARD:22475 | MONDO:equivalentTo | Non-syndromic non-specific multisutural craniosynostosis | | | -| MONDO:0866824 | non-syndromic bilambdoid craniosynostosis | GARD:22476 | MONDO:equivalentTo | Non-syndromic bilambdoid craniosynostosis | | | -| MONDO:0866825 | non-syndromic unicoronal and sagittal craniosynostosis | GARD:22477 | MONDO:equivalentTo | Non-syndromic unicoronal and sagittal craniosynostosis | | | -| MONDO:0866826 | non-syndromic metopic and sagittal craniosynostosis | GARD:22478 | MONDO:equivalentTo | Non-syndromic metopic and sagittal craniosynostosis | | | -| MONDO:0866827 | non-syndromic bicoronal and metopic craniosynostosis | GARD:22479 | MONDO:equivalentTo | Non-syndromic bicoronal and metopic craniosynostosis | | | -| MONDO:0866828 | non-syndromic bicoronal and sagittal craniosynostosis | GARD:22480 | MONDO:equivalentTo | Non-syndromic bicoronal and sagittal craniosynostosis | | | -| MONDO:0866829 | non-syndromic pansynostosis | GARD:22481 | MONDO:equivalentTo | Non-syndromic pansynostosis | | | -| MONDO:0866830 | bartter syndrome type 1 | GARD:22482 | MONDO:equivalentTo | Bartter syndrome type 1 | | | -| MONDO:0866831 | bartter syndrome type 2 | GARD:22483 | MONDO:equivalentTo | Bartter syndrome type 2 | | | -| MONDO:0866832 | primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome | GARD:22484 | MONDO:equivalentTo | Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome | | | -| MONDO:0866833 | egf-related primary hypomagnesemia with intellectual disability | GARD:22485 | MONDO:equivalentTo | EGF-related primary hypomagnesemia with intellectual disability | | | -| MONDO:0866834 | gitelman-like kidney tubulopathy due to mitochondrial dna mutation | GARD:22486 | MONDO:equivalentTo | Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation | | | -| MONDO:0866835 | fibrosis-neurodegeneration-cerebral angiomatosis syndrome | GARD:22487 | MONDO:equivalentTo | Fibrosis-neurodegeneration-cerebral angiomatosis syndrome | | | -| MONDO:0866836 | genetic autoinflammatory syndrome with skin involvement | GARD:22488 | MONDO:equivalentTo | Genetic autoinflammatory syndrome with skin involvement | | | -| MONDO:0866837 | rare genetic nevus | GARD:22489 | MONDO:equivalentTo | Rare genetic nevus | | | -| MONDO:0866838 | familial thoracic aortic aneurysm and aortic dissection | GARD:2249 | MONDO:equivalentTo | Familial thoracic aortic aneurysm and aortic dissection | | | -| MONDO:0866839 | x-linked severe syndromic thoracic aortic aneurysm and dissection | GARD:22490 | MONDO:equivalentTo | X-linked severe syndromic thoracic aortic aneurysm and dissection | | | -| MONDO:0866840 | sbds-related severe neonatal spondylometaphyseal dysplasia | GARD:22491 | MONDO:equivalentTo | SBDS-related severe neonatal spondylometaphyseal dysplasia | | | -| MONDO:0866841 | autoimmune limbic encephalitis | GARD:22492 | MONDO:equivalentTo | Autoimmune limbic encephalitis | | | -| MONDO:0866842 | paraneoplastic cerebellar degeneration | GARD:22493 | MONDO:equivalentTo | Paraneoplastic cerebellar degeneration | | | -| MONDO:0866843 | immune-mediated cerebellar ataxia | GARD:22494 | MONDO:equivalentTo | Immune-mediated cerebellar ataxia | | | -| MONDO:0866844 | mir140-related spondyloepiphyseal dysplasia | GARD:22495 | MONDO:equivalentTo | MIR140-related spondyloepiphyseal dysplasia | | | -| MONDO:0866845 | body integrity dysphoria | GARD:22496 | MONDO:equivalentTo | Body integrity dysphoria | | | -| MONDO:0866846 | non-specific autoimmune supratentorial encephalitis with characteristic antibodies | GARD:22497 | MONDO:equivalentTo | Non-specific autoimmune supratentorial encephalitis with characteristic antibodies | | | -| MONDO:0866847 | non-specific autoimmune supratentorial encephalitis without characteristic antibodies | GARD:22498 | MONDO:equivalentTo | Non-specific autoimmune supratentorial encephalitis without characteristic antibodies | | | -| MONDO:0866848 | paraneoplastic isolated brainstem encephalitis | GARD:22499 | MONDO:equivalentTo | Paraneoplastic isolated brainstem encephalitis | | | -| MONDO:0866849 | radial hemimelia | GARD:225 | MONDO:equivalentTo | Radial hemimelia | | | -| MONDO:0866850 | non-specific autoimmune brainstem encephalitis with characteristic antibodies | GARD:22500 | MONDO:equivalentTo | Non-specific autoimmune brainstem encephalitis with characteristic antibodies | | | -| MONDO:0866851 | non-specific autoimmune brainstem encephalitis without characteristic antibodies | GARD:22501 | MONDO:equivalentTo | Non-specific autoimmune brainstem encephalitis without characteristic antibodies | | | -| MONDO:0866852 | postinfectious cerebellitis | GARD:22502 | MONDO:equivalentTo | Postinfectious cerebellitis | | | -| MONDO:0866853 | non-specific autoimmune cerebellar ataxia with characteristic antibodies | GARD:22503 | MONDO:equivalentTo | Non-specific autoimmune cerebellar ataxia with characteristic antibodies | | | -| MONDO:0866854 | non-specific autoimmune cerebellar ataxia without characteristic antibodies | GARD:22504 | MONDO:equivalentTo | Non-specific autoimmune cerebellar ataxia without characteristic antibodies | | | -| MONDO:0866855 | rare teratologic disease | GARD:22505 | MONDO:equivalentTo | Rare teratologic disease | | | -| MONDO:0866856 | rare hepatic disease | GARD:22506 | MONDO:equivalentTo | Rare hepatic disease | | | -| MONDO:0866857 | rare maxillo-facial surgical disease | GARD:22507 | MONDO:equivalentTo | Rare maxillo-facial surgical disease | | | -| MONDO:0866858 | rare inborn errors of metabolism | GARD:22508 | MONDO:equivalentTo | Rare inborn errors of metabolism | | | -| MONDO:0866859 | rare infectious disease | GARD:22509 | MONDO:equivalentTo | Rare infectious disease | | | -| MONDO:0866860 | rare skin disease | GARD:22510 | MONDO:equivalentTo | Rare skin disease | | | -| MONDO:0866861 | rare bone disease | GARD:22511 | MONDO:equivalentTo | Rare bone disease | | | -| MONDO:0866862 | rare renal disease | GARD:22512 | MONDO:equivalentTo | Rare renal disease | | | -| MONDO:0866863 | rare developmental defect during embryogenesis | GARD:22513 | MONDO:equivalentTo | Rare developmental defect during embryogenesis | | | -| MONDO:0866864 | rare gynecologic or obstetric disease | GARD:22514 | MONDO:equivalentTo | Rare gynecologic or obstetric disease | | | -| MONDO:0866865 | rare cardiac disease | GARD:22515 | MONDO:equivalentTo | Rare cardiac disease | | | -| MONDO:0866866 | rare gastroenterologic disease | GARD:22516 | MONDO:equivalentTo | Rare gastroenterologic disease | | | -| MONDO:0866867 | rare respiratory disease | GARD:22517 | MONDO:equivalentTo | Rare respiratory disease | | | -| MONDO:0866868 | rare surgical thoracic disease | GARD:22518 | MONDO:equivalentTo | Rare surgical thoracic disease | | | -| MONDO:0866869 | rare surgical cardiac disease | GARD:22519 | MONDO:equivalentTo | Rare surgical cardiac disease | | | -| MONDO:0866870 | non-acquired combined pituitary hormone deficiency | GARD:2252 | MONDO:equivalentTo | Non-acquired combined pituitary hormone deficiency | | | -| MONDO:0866871 | rare ophthalmic disorder | GARD:22520 | MONDO:equivalentTo | Rare ophthalmic disorder | | | -| MONDO:0866872 | rare endocrine disease | GARD:22521 | MONDO:equivalentTo | Rare endocrine disease | | | -| MONDO:0866873 | rare hematologic disease | GARD:22522 | MONDO:equivalentTo | Rare hematologic disease | | | -| MONDO:0866874 | rare immune disease | GARD:22523 | MONDO:equivalentTo | Rare immune disease | | | -| MONDO:0866875 | rare neurologic disease | GARD:22524 | MONDO:equivalentTo | Rare neurologic disease | | | -| MONDO:0866876 | rare systemic or rheumatologic disease | GARD:22525 | MONDO:equivalentTo | Rare systemic or rheumatologic disease | | | -| MONDO:0866877 | rare odontologic disease | GARD:22526 | MONDO:equivalentTo | Rare odontologic disease | | | -| MONDO:0866878 | rare circulatory system disease | GARD:22527 | MONDO:equivalentTo | Rare circulatory system disease | | | -| MONDO:0866879 | rare otorhinolaryngologic disease | GARD:22528 | MONDO:equivalentTo | Rare otorhinolaryngologic disease | | | -| MONDO:0866880 | rare infertility | GARD:22529 | MONDO:equivalentTo | Rare infertility | | | -| MONDO:0866881 | rare allergic disease | GARD:22530 | MONDO:equivalentTo | Rare allergic disease | | | -| MONDO:0866882 | rare genetic disease | GARD:22531 | MONDO:equivalentTo | Rare genetic disease | | | -| MONDO:0866883 | rare urogenital disease | GARD:22532 | MONDO:equivalentTo | Rare urogenital disease | | | -| MONDO:0866884 | rare disorder due to toxic effects | GARD:22533 | MONDO:equivalentTo | Rare disorder due to toxic effects | | | -| MONDO:0866885 | rare abdominal surgical disease | GARD:22534 | MONDO:equivalentTo | Rare abdominal surgical disease | | | -| MONDO:0866886 | rare neoplastic disease | GARD:22535 | MONDO:equivalentTo | Rare neoplastic disease | | | -| MONDO:0866887 | rare disorder potentially indicated for transplant or complication after transplantation | GARD:22536 | MONDO:equivalentTo | Rare disorder potentially indicated for transplant or complication after transplantation | | | -| MONDO:0866888 | familial nasal acilia | GARD:2254 | MONDO:equivalentTo | Familial nasal acilia | | | -| MONDO:0866889 | polydactyly of an index finger | GARD:2256 | MONDO:equivalentTo | Polydactyly of an index finger | | | -| MONDO:0866890 | autosomal dominant epilepsy with auditory features | GARD:2257 | MONDO:equivalentTo | Autosomal dominant epilepsy with auditory features | | | -| MONDO:0866891 | familial porencephaly | GARD:2258 | MONDO:equivalentTo | Familial porencephaly | | | -| MONDO:0866892 | familial supernumerary nipples | GARD:2259 | MONDO:equivalentTo | Familial supernumerary nipples | | | -| MONDO:0866893 | rabson-mendenhall syndrome | GARD:226 | MONDO:equivalentTo | Rabson-Mendenhall syndrome | | | -| MONDO:0866894 | fanconi-bickel syndrome | GARD:2268 | MONDO:equivalentTo | Fanconi-Bickel syndrome | | | -| MONDO:0866895 | posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome | GARD:2276 | MONDO:equivalentTo | Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome | | | -| MONDO:0866896 | atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome | GARD:2279 | MONDO:equivalentTo | Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome | | | -| MONDO:0866897 | gollop-wolfgang complex | GARD:2285 | MONDO:equivalentTo | Gollop-Wolfgang complex | | | -| MONDO:0866898 | femur-fibula-ulna complex | GARD:2286 | MONDO:equivalentTo | Femur-fibula-ulna complex | | | -| MONDO:0866899 | ataxia-photosensitivity-short stature syndrome | GARD:2287 | MONDO:equivalentTo | Ataxia-photosensitivity-short stature syndrome | | | -| MONDO:0866900 | gómez-lópez-hernández syndrome | GARD:229 | MONDO:equivalentTo | Gómez-López-Hernández syndrome | | | -| MONDO:0866901 | aminopterin/methotrexate embryofetopathy | GARD:2294 | MONDO:equivalentTo | Aminopterin/methotrexate embryofetopathy | | | -| MONDO:0866902 | fetal and neonatal alloimmune thrombocytopenia | GARD:2295 | MONDO:equivalentTo | Fetal and neonatal alloimmune thrombocytopenia | | | -| MONDO:0866903 | blepharophimosis-ptosis-epicanthus inversus syndrome | GARD:23 | MONDO:equivalentTo | Blepharophimosis-ptosis-epicanthus inversus syndrome | | | -| MONDO:0866904 | microcephaly-deafness-intellectual disability syndrome | GARD:230 | MONDO:equivalentTo | Microcephaly-deafness-intellectual disability syndrome | | | -| MONDO:0866905 | indomethacin embryofetopathy | GARD:2303 | MONDO:equivalentTo | Indomethacin embryofetopathy | | | -| MONDO:0866906 | fetal iodine syndrome | GARD:2304 | MONDO:equivalentTo | Fetal iodine syndrome | | | -| MONDO:0866907 | congenital left ventricular aneurysm | GARD:2305 | MONDO:equivalentTo | Congenital left ventricular aneurysm | | | -| MONDO:0866908 | fetal minoxidil syndrome | GARD:2308 | MONDO:equivalentTo | Fetal minoxidil syndrome | | | -| MONDO:0866909 | cach syndrome | GARD:231 | MONDO:equivalentTo | CACH syndrome | | | -| MONDO:0866910 | thalidomide embryopathy | GARD:2313 | MONDO:equivalentTo | Thalidomide embryopathy | | | -| MONDO:0866911 | fg syndrome type 1 | GARD:2317 | MONDO:equivalentTo | FG syndrome type 1 | | | -| MONDO:0866912 | medullary sponge kidney | GARD:232 | MONDO:equivalentTo | Medullary sponge kidney | | | -| MONDO:0866913 | congenital fibrinogen deficiency | GARD:2320 | MONDO:equivalentTo | Congenital fibrinogen deficiency | | | -| MONDO:0866914 | fibrochondrogenesis | GARD:2321 | MONDO:equivalentTo | Fibrochondrogenesis | | | -| MONDO:0866915 | birt-hogg-dubé syndrome | GARD:2322 | MONDO:equivalentTo | Birt-Hogg-Dubé syndrome | | | -| MONDO:0866916 | gingival fibromatosis-hypertrichosis syndrome | GARD:2324 | MONDO:equivalentTo | Gingival fibromatosis-hypertrichosis syndrome | | | -| MONDO:0866917 | fibrosarcoma | GARD:2327 | MONDO:equivalentTo | Fibrosarcoma | | | -| MONDO:0866918 | fibular aplasia-ectrodactyly syndrome | GARD:2331 | MONDO:equivalentTo | Fibular aplasia-ectrodactyly syndrome | | | -| MONDO:0866919 | absence of fingerprints-congenital milia syndrome | GARD:2336 | MONDO:equivalentTo | Absence of fingerprints-congenital milia syndrome | | | -| MONDO:0866920 | agel amyloidosis | GARD:2339 | MONDO:equivalentTo | AGel amyloidosis | | | -| MONDO:0866921 | d-glyceric aciduria | GARD:234 | MONDO:equivalentTo | D-glyceric aciduria | | | -| MONDO:0866922 | spastic paraplegia-nephritis-deafness syndrome | GARD:2342 | MONDO:equivalentTo | Spastic paraplegia-nephritis-deafness syndrome | | | -| MONDO:0866923 | paraplegia-intellectual disability-hyperkeratosis syndrome | GARD:2344 | MONDO:equivalentTo | Paraplegia-intellectual disability-hyperkeratosis syndrome | | | -| MONDO:0866924 | flotch syndrome | GARD:2346 | MONDO:equivalentTo | FLOTCH syndrome | | | -| MONDO:0866925 | flynn-aird syndrome | GARD:2347 | MONDO:equivalentTo | Flynn-Aird syndrome | | | -| MONDO:0866926 | foix-chavany-marie syndrome | GARD:2351 | MONDO:equivalentTo | Foix-Chavany-Marie syndrome | | | -| MONDO:0866927 | follicular lymphoma | GARD:2356 | MONDO:equivalentTo | Follicular lymphoma | | | -| MONDO:0866928 | hydrocephalus-blue sclerae-nephropathy syndrome | GARD:236 | MONDO:equivalentTo | Hydrocephalus-blue sclerae-nephropathy syndrome | | | -| MONDO:0866929 | cardiospondylocarpofacial syndrome | GARD:2362 | MONDO:equivalentTo | Cardiospondylocarpofacial syndrome | | | -| MONDO:0866930 | fowler urethral sphincter dysfunction syndrome | GARD:2365 | MONDO:equivalentTo | Fowler urethral sphincter dysfunction syndrome | | | -| MONDO:0866931 | dahlberg-borer-newcomer syndrome | GARD:237 | MONDO:equivalentTo | Dahlberg-Borer-Newcomer syndrome | | | -| MONDO:0866932 | frasier syndrome | GARD:2375 | MONDO:equivalentTo | Frasier syndrome | | | -| MONDO:0866933 | fraxe intellectual disability | GARD:2378 | MONDO:equivalentTo | FRAXE intellectual disability | | | -| MONDO:0866934 | odontomatosis-aortae esophagus stenosis syndrome | GARD:238 | MONDO:equivalentTo | Odontomatosis-aortae esophagus stenosis syndrome | | | -| MONDO:0866935 | osteochondrosis of the metatarsal bone | GARD:2380 | MONDO:equivalentTo | Osteochondrosis of the metatarsal bone | | | -| MONDO:0866936 | odontotrichomelic syndrome | GARD:2381 | MONDO:equivalentTo | Odontotrichomelic syndrome | | | -| MONDO:0866937 | 14q22q23 microdeletion syndrome | GARD:2384 | MONDO:equivalentTo | 14q22q23 microdeletion syndrome | | | -| MONDO:0866938 | say-barber-miller syndrome | GARD:239 | MONDO:equivalentTo | Say-Barber-Miller syndrome | | | -| MONDO:0866939 | frontofacionasal dysplasia | GARD:2390 | MONDO:equivalentTo | Frontofacionasal dysplasia | | | -| MONDO:0866940 | frontonasal dysplasia | GARD:2392 | MONDO:equivalentTo | Frontonasal dysplasia | | | -| MONDO:0866941 | diaphragmatic defect-limb deficiency-skull defect syndrome | GARD:2397 | MONDO:equivalentTo | Diaphragmatic defect-limb deficiency-skull defect syndrome | | | -| MONDO:0866942 | fructose-1,6-bisphosphatase deficiency | GARD:2400 | MONDO:equivalentTo | Fructose-1,6-bisphosphatase deficiency | | | -| MONDO:0866943 | upper limb mesomelic dysplasia | GARD:2408 | MONDO:equivalentTo | Upper limb mesomelic dysplasia | | | -| MONDO:0866944 | fryns-smeets-thiry syndrome | GARD:2409 | MONDO:equivalentTo | Fryns-Smeets-Thiry syndrome | | | -| MONDO:0866945 | scalp defects-postaxial polydactyly syndrome | GARD:241 | MONDO:equivalentTo | Scalp defects-postaxial polydactyly syndrome | | | -| MONDO:0866946 | fuhrmann syndrome | GARD:2410 | MONDO:equivalentTo | Fuhrmann syndrome | | | -| MONDO:0866947 | muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome | GARD:2417 | MONDO:equivalentTo | Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome | | | -| MONDO:0866948 | furuncular myiasis | GARD:2418 | MONDO:equivalentTo | Furuncular myiasis | | | -| MONDO:0866949 | fused mandibular incisors | GARD:2419 | MONDO:equivalentTo | Fused mandibular incisors | | | -| MONDO:0866950 | galactokinase deficiency | GARD:2422 | MONDO:equivalentTo | Galactokinase deficiency | | | -| MONDO:0866951 | galactosemia | GARD:2424 | MONDO:equivalentTo | Galactosemia | | | -| MONDO:0866952 | growth delay-hydrocephaly-lung hypoplasia syndrome | GARD:2427 | MONDO:equivalentTo | Growth delay-hydrocephaly-lung hypoplasia syndrome | | | -| MONDO:0866953 | cystathioninuria | GARD:2428 | MONDO:equivalentTo | Cystathioninuria | | | -| MONDO:0866954 | gamma-sarcoglycan-related limb-girdle muscular dystrophy r5 | GARD:2429 | MONDO:equivalentTo | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | | | -| MONDO:0866955 | trigonocephaly-short stature-developmental delay syndrome | GARD:243 | MONDO:equivalentTo | Trigonocephaly-short stature-developmental delay syndrome | | | -| MONDO:0866956 | ganglioglioma | GARD:2430 | MONDO:equivalentTo | Ganglioglioma | | | -| MONDO:0866957 | gm1 gangliosidosis type 3 | GARD:2431 | MONDO:equivalentTo | GM1 gangliosidosis type 3 | | | -| MONDO:0866958 | x-linked alport syndrome-diffuse leiomyomatosis | GARD:2432 | MONDO:equivalentTo | X-linked Alport syndrome-diffuse leiomyomatosis | | | -| MONDO:0866959 | ménétrier disease | GARD:2436 | MONDO:equivalentTo | Ménétrier disease | | | -| MONDO:0866960 | gastroenteropancreatic neuroendocrine neoplasm | GARD:2437 | MONDO:equivalentTo | Gastroenteropancreatic neuroendocrine neoplasm | | | -| MONDO:0866961 | gastrocutaneous syndrome | GARD:2438 | MONDO:equivalentTo | Gastrocutaneous syndrome | | | -| MONDO:0866962 | gaucher disease type 1 | GARD:2441 | MONDO:equivalentTo | Gaucher disease type 1 | | | -| MONDO:0866963 | gaucher disease type 2 | GARD:2442 | MONDO:equivalentTo | Gaucher disease type 2 | | | -| MONDO:0866964 | gaucher disease type 3 | GARD:2443 | MONDO:equivalentTo | Gaucher disease type 3 | | | -| MONDO:0866965 | geleophysic dysplasia | GARD:2449 | MONDO:equivalentTo | Geleophysic dysplasia | | | -| MONDO:0866966 | gemignani syndrome | GARD:2451 | MONDO:equivalentTo | Gemignani syndrome | | | -| MONDO:0866967 | glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome | GARD:2452 | MONDO:equivalentTo | Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome | | | -| MONDO:0866968 | holoprosencephaly-craniosynostosis syndrome | GARD:2454 | MONDO:equivalentTo | Holoprosencephaly-craniosynostosis syndrome | | | -| MONDO:0866969 | schisis association | GARD:246 | MONDO:equivalentTo | Schisis association | | | -| MONDO:0866970 | genitopalatocardiac syndrome | GARD:2460 | MONDO:equivalentTo | Genitopalatocardiac syndrome | | | -| MONDO:0866971 | german syndrome | GARD:2462 | MONDO:equivalentTo | German syndrome | | | -| MONDO:0866972 | large congenital melanocytic nevus | GARD:2469 | MONDO:equivalentTo | Large congenital melanocytic nevus | | | -| MONDO:0866973 | scarf syndrome | GARD:247 | MONDO:equivalentTo | SCARF syndrome | | | -| MONDO:0866974 | bernard-soulier syndrome | GARD:2470 | MONDO:equivalentTo | Bernard-Soulier syndrome | | | -| MONDO:0866975 | glanzmann thrombasthenia | GARD:2478 | MONDO:equivalentTo | Glanzmann thrombasthenia | | | -| MONDO:0866976 | cataract-deafness-hypogonadism syndrome | GARD:248 | MONDO:equivalentTo | Cataract-deafness-hypogonadism syndrome | | | -| MONDO:0866977 | glaucoma-sleep apnea syndrome | GARD:2483 | MONDO:equivalentTo | Glaucoma-sleep apnea syndrome | | | -| MONDO:0866978 | congenital glaucoma | GARD:2485 | MONDO:equivalentTo | Congenital glaucoma | | | -| MONDO:0866979 | pediatric-onset glaucoma of genetic origin | GARD:2486 | MONDO:equivalentTo | Pediatric-onset glaucoma of genetic origin | | | -| MONDO:0866980 | glioblastoma | GARD:2491 | MONDO:equivalentTo | Glioblastoma | | | -| MONDO:0866981 | glucagonoma | GARD:2496 | MONDO:equivalentTo | Glucagonoma | | | -| MONDO:0866982 | familial glucocorticoid deficiency | GARD:2498 | MONDO:equivalentTo | Familial glucocorticoid deficiency | | | -| MONDO:0866983 | generalized glucocorticoid resistance syndrome | GARD:2499 | MONDO:equivalentTo | Generalized glucocorticoid resistance syndrome | | | -| MONDO:0866984 | schwartz-jampel syndrome | GARD:250 | MONDO:equivalentTo | Schwartz-Jampel syndrome | | | -| MONDO:0866985 | glycogen storage disease due to hepatic glycogen synthase deficiency | GARD:2513 | MONDO:equivalentTo | Glycogen storage disease due to hepatic glycogen synthase deficiency | | | -| MONDO:0866986 | glycogen storage disease due to glucose-6-phosphatase deficiency type ib | GARD:2515 | MONDO:equivalentTo | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | -| MONDO:0866987 | glycogen storage disease due to glycogen branching enzyme deficiency | GARD:2520 | MONDO:equivalentTo | Glycogen storage disease due to glycogen branching enzyme deficiency | | | -| MONDO:0866988 | sandhoff disease | GARD:2521 | MONDO:equivalentTo | Sandhoff disease | | | -| MONDO:0866989 | gms syndrome | GARD:2523 | MONDO:equivalentTo | GMS syndrome | | | -| MONDO:0866990 | xy type gonadal dysgenesis-associated anomalies syndrome | GARD:2541 | MONDO:equivalentTo | XY type gonadal dysgenesis-associated anomalies syndrome | | | -| MONDO:0866991 | perrault syndrome | GARD:2542 | MONDO:equivalentTo | Perrault syndrome | | | -| MONDO:0866992 | gonococcal conjunctivitis | GARD:2546 | MONDO:equivalentTo | Gonococcal conjunctivitis | | | -| MONDO:0866993 | goodman syndrome | GARD:2549 | MONDO:equivalentTo | Goodman syndrome | | | -| MONDO:0866994 | anti-glomerular basement membrane disease | GARD:2551 | MONDO:equivalentTo | Anti-glomerular basement membrane disease | | | -| MONDO:0866995 | gordon syndrome | GARD:2553 | MONDO:equivalentTo | Gordon syndrome | | | -| MONDO:0866996 | cystic hamartoma of lung and kidney | GARD:2557 | MONDO:equivalentTo | Cystic hamartoma of lung and kidney | | | -| MONDO:0866997 | grant syndrome | GARD:2559 | MONDO:equivalentTo | Grant syndrome | | | -| MONDO:0866998 | gray platelet syndrome | GARD:2562 | MONDO:equivalentTo | Gray platelet syndrome | | | -| MONDO:0866999 | griscelli syndrome type 1 | GARD:2566 | MONDO:equivalentTo | Griscelli syndrome type 1 | | | -| MONDO:0867000 | deafness-small bowel diverticulosis-neuropathy syndrome | GARD:2568 | MONDO:equivalentTo | Deafness-small bowel diverticulosis-neuropathy syndrome | | | -| MONDO:0867001 | intellectual disability-balding-patella luxation-acromicria syndrome | GARD:257 | MONDO:equivalentTo | Intellectual disability-balding-patella luxation-acromicria syndrome | | | -| MONDO:0867002 | myhre syndrome | GARD:2572 | MONDO:equivalentTo | Myhre syndrome | | | -| MONDO:0867003 | grubben-de cock-borghgraef syndrome | GARD:2576 | MONDO:equivalentTo | Grubben-de Cock-Borghgraef syndrome | | | -| MONDO:0867004 | guanidinoacetate methyltransferase deficiency | GARD:2578 | MONDO:equivalentTo | Guanidinoacetate methyltransferase deficiency | | | -| MONDO:0867005 | radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome | GARD:258 | MONDO:equivalentTo | Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome | | | -| MONDO:0867006 | x-linked corneal dermoid | GARD:2580 | MONDO:equivalentTo | X-linked corneal dermoid | | | -| MONDO:0867007 | hall-riggs syndrome | GARD:2586 | MONDO:equivalentTo | Hall-Riggs syndrome | | | -| MONDO:0867008 | digital extensor muscle aplasia-polyneuropathy | GARD:2589 | MONDO:equivalentTo | Digital extensor muscle aplasia-polyneuropathy | | | -| MONDO:0867009 | nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome | GARD:259 | MONDO:equivalentTo | Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome | | | -| MONDO:0867010 | emery-nelson syndrome | GARD:2593 | MONDO:equivalentTo | Emery-Nelson syndrome | | | -| MONDO:0867011 | hand-foot-genital syndrome | GARD:2594 | MONDO:equivalentTo | Hand-foot-genital syndrome | | | -| MONDO:0867012 | extensor tendons of finger anomalies | GARD:2597 | MONDO:equivalentTo | Extensor tendons of finger anomalies | | | -| MONDO:0867013 | parana hard skin syndrome | GARD:2598 | MONDO:equivalentTo | Parana hard skin syndrome | | | -| MONDO:0867014 | walker-warburg syndrome | GARD:2599 | MONDO:equivalentTo | Walker-Warburg syndrome | | | -| MONDO:0867015 | cat-eye syndrome | GARD:26 | MONDO:equivalentTo | Cat-eye syndrome | | | -| MONDO:0867016 | early-onset cerebellar ataxia with retained tendon reflexes | GARD:2600 | MONDO:equivalentTo | Early-onset cerebellar ataxia with retained tendon reflexes | | | -| MONDO:0867017 | harrod syndrome | GARD:2601 | MONDO:equivalentTo | Harrod syndrome | | | -| MONDO:0867018 | short stature-craniofacial anomalies-genital hypoplasia syndrome | GARD:2605 | MONDO:equivalentTo | Short stature-craniofacial anomalies-genital hypoplasia syndrome | | | -| MONDO:0867019 | heart defects-limb shortening syndrome | GARD:2613 | MONDO:equivalentTo | Heart defects-limb shortening syndrome | | | -| MONDO:0867020 | heart-hand syndrome type 3 | GARD:2614 | MONDO:equivalentTo | Heart-hand syndrome type 3 | | | -| MONDO:0867021 | narp syndrome | GARD:262 | MONDO:equivalentTo | NARP syndrome | | | -| MONDO:0867022 | hec syndrome | GARD:2620 | MONDO:equivalentTo | HEC syndrome | | | -| MONDO:0867023 | trismus-pseudocamptodactyly syndrome | GARD:2621 | MONDO:equivalentTo | Trismus-pseudocamptodactyly syndrome | | | -| MONDO:0867024 | fatco syndrome | GARD:2622 | MONDO:equivalentTo | FATCO syndrome | | | -| MONDO:0867025 | isolated hemihyperplasia | GARD:2630 | MONDO:equivalentTo | Isolated hemihyperplasia | | | -| MONDO:0867026 | bencze syndrome | GARD:2633 | MONDO:equivalentTo | Bencze syndrome | | | -| MONDO:0867027 | hemimegalencephaly | GARD:2637 | MONDO:equivalentTo | Hemimegalencephaly | | | -| MONDO:0867028 | lowry-wood syndrome | GARD:264 | MONDO:equivalentTo | Lowry-Wood syndrome | | | -| MONDO:0867029 | hemoglobin c disease | GARD:2640 | MONDO:equivalentTo | Hemoglobin C disease | | | -| MONDO:0867030 | hemoglobin e disease | GARD:2641 | MONDO:equivalentTo | Hemoglobin E disease | | | -| MONDO:0867031 | lethal hemolytic anemia-genital anomalies syndrome | GARD:2642 | MONDO:equivalentTo | Lethal hemolytic anemia-genital anomalies syndrome | | | -| MONDO:0867032 | trichodental syndrome | GARD:265 | MONDO:equivalentTo | Trichodental syndrome | | | -| MONDO:0867033 | heparin-induced thrombocytopenia | GARD:2650 | MONDO:equivalentTo | Heparin-induced thrombocytopenia | | | -| MONDO:0867034 | hepatic cystic hamartoma | GARD:2651 | MONDO:equivalentTo | Hepatic cystic hamartoma | | | -| MONDO:0867035 | hepatoblastoma | GARD:2657 | MONDO:equivalentTo | Hepatoblastoma | | | -| MONDO:0867036 | tyrosinemia type 1 | GARD:2658 | MONDO:equivalentTo | Tyrosinemia type 1 | | | -| MONDO:0867037 | hereditary methemoglobinemia | GARD:2659 | MONDO:equivalentTo | Hereditary methemoglobinemia | | | -| MONDO:0867038 | keipert syndrome | GARD:267 | MONDO:equivalentTo | Keipert syndrome | | | -| MONDO:0867039 | hidrotic ectodermal dysplasia, christianson-fourie type | GARD:2682 | MONDO:equivalentTo | Hidrotic ectodermal dysplasia, Christianson-Fourie type | | | -| MONDO:0867040 | congenital high-molecular-weight kininogen deficiency | GARD:2684 | MONDO:equivalentTo | Congenital high-molecular-weight kininogen deficiency | | | -| MONDO:0867041 | ivic syndrome | GARD:269 | MONDO:equivalentTo | IVIC syndrome | | | -| MONDO:0867042 | hip dysplasia, beukes type | GARD:2690 | MONDO:equivalentTo | Hip dysplasia, Beukes type | | | -| MONDO:0867043 | hirschsprung disease-ganglioneuroblastoma syndrome | GARD:2695 | MONDO:equivalentTo | Hirschsprung disease-ganglioneuroblastoma syndrome | | | -| MONDO:0867044 | cat-scratch disease | GARD:27 | MONDO:equivalentTo | Cat-scratch disease | | | -| MONDO:0867045 | nicolaides-baraitser syndrome | GARD:270 | MONDO:equivalentTo | Nicolaides-Baraitser syndrome | | | -| MONDO:0867046 | hirschsprung disease-type d brachydactyly syndrome | GARD:2700 | MONDO:equivalentTo | Hirschsprung disease-type D brachydactyly syndrome | | | -| MONDO:0867047 | his bundle tachycardia | GARD:2706 | MONDO:equivalentTo | His bundle tachycardia | | | -| MONDO:0867048 | histidinuria-renal tubular defect syndrome | GARD:2708 | MONDO:equivalentTo | Histidinuria-renal tubular defect syndrome | | | -| MONDO:0867049 | 3-hydroxy-3-methylglutaryl-coa synthase deficiency | GARD:2712 | MONDO:equivalentTo | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | | | -| MONDO:0867050 | hodgkin lymphoma | GARD:2714 | MONDO:equivalentTo | Hodgkin lymphoma | | | -| MONDO:0867051 | vacterl with hydrocephalus | GARD:272 | MONDO:equivalentTo | VACTERL with hydrocephalus | | | -| MONDO:0867052 | holocarboxylase synthetase deficiency | GARD:2721 | MONDO:equivalentTo | Holocarboxylase synthetase deficiency | | | -| MONDO:0867053 | holoprosencephaly-caudal dysgenesis syndrome | GARD:2722 | MONDO:equivalentTo | Holoprosencephaly-caudal dysgenesis syndrome | | | -| MONDO:0867054 | hartsfield syndrome | GARD:2725 | MONDO:equivalentTo | Hartsfield syndrome | | | -| MONDO:0867055 | holoprosencephaly-radial heart renal anomalies syndrome | GARD:2727 | MONDO:equivalentTo | Holoprosencephaly-radial heart renal anomalies syndrome | | | -| MONDO:0867056 | holzgreve syndrome | GARD:2728 | MONDO:equivalentTo | Holzgreve syndrome | | | -| MONDO:0867057 | wrinkly skin syndrome | GARD:273 | MONDO:equivalentTo | Wrinkly skin syndrome | | | -| MONDO:0867058 | homocystinuria due to methylene tetrahydrofolate reductase deficiency | GARD:2734 | MONDO:equivalentTo | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | | | -| MONDO:0867059 | x-linked immunoneurologic disorder | GARD:274 | MONDO:equivalentTo | X-linked immunoneurologic disorder | | | -| MONDO:0867060 | atrioventricular defect-blepharophimosis-radial and anal defect syndrome | GARD:2742 | MONDO:equivalentTo | Atrioventricular defect-blepharophimosis-radial and anal defect syndrome | | | -| MONDO:0867061 | humero-radial synostosis | GARD:2748 | MONDO:equivalentTo | Humero-radial synostosis | | | -| MONDO:0867062 | humero-radio-ulnar synostosis | GARD:2749 | MONDO:equivalentTo | Humero-radio-ulnar synostosis | | | -| MONDO:0867063 | humerus trochlea aplasia | GARD:2750 | MONDO:equivalentTo | Humerus trochlea aplasia | | | -| MONDO:0867064 | hunter-mcalpine syndrome | GARD:2754 | MONDO:equivalentTo | Hunter-McAlpine syndrome | | | -| MONDO:0867065 | trigonocephaly-broad thumbs syndrome | GARD:2756 | MONDO:equivalentTo | Trigonocephaly-broad thumbs syndrome | | | -| MONDO:0867066 | cystic echinococcosis | GARD:2764 | MONDO:equivalentTo | Cystic echinococcosis | | | -| MONDO:0867067 | x-linked intellectual disability-plagiocephaly syndrome | GARD:2765 | MONDO:equivalentTo | X-linked intellectual disability-plagiocephaly syndrome | | | -| MONDO:0867068 | pilodental dysplasia-refractive errors syndrome | GARD:277 | MONDO:equivalentTo | Pilodental dysplasia-refractive errors syndrome | | | -| MONDO:0867069 | hydrocephalus-obesity-hypogonadism syndrome | GARD:2775 | MONDO:equivalentTo | Hydrocephalus-obesity-hypogonadism syndrome | | | -| MONDO:0867070 | hydrops fetalis | GARD:2783 | MONDO:equivalentTo | Hydrops fetalis | | | -| MONDO:0867071 | hymenolepiasis | GARD:2787 | MONDO:equivalentTo | Hymenolepiasis | | | -| MONDO:0867072 | hyperimmunoglobulinemia d with periodic fever | GARD:2788 | MONDO:equivalentTo | Hyperimmunoglobulinemia D with periodic fever | | | -| MONDO:0867073 | familial hyperaldosteronism type ii | GARD:2789 | MONDO:equivalentTo | Familial hyperaldosteronism type II | | | -| MONDO:0867074 | familial hyperaldosteronism type i | GARD:2790 | MONDO:equivalentTo | Familial hyperaldosteronism type I | | | -| MONDO:0867075 | transient familial neonatal hyperbilirubinemia | GARD:2791 | MONDO:equivalentTo | Transient familial neonatal hyperbilirubinemia | | | -| MONDO:0867076 | dubin-johnson syndrome | GARD:2793 | MONDO:equivalentTo | Dubin-Johnson syndrome | | | -| MONDO:0867077 | familial hypocalciuric hypercalcemia type 1 | GARD:2796 | MONDO:equivalentTo | Familial hypocalciuric hypercalcemia type 1 | | | -| MONDO:0867078 | catel-manzke syndrome | GARD:28 | MONDO:equivalentTo | Catel-Manzke syndrome | | | -| MONDO:0867079 | hidrotic ectodermal dysplasia, halal type | GARD:280 | MONDO:equivalentTo | Hidrotic ectodermal dysplasia, Halal type | | | -| MONDO:0867080 | hypereosinophilic syndrome | GARD:2804 | MONDO:equivalentTo | Hypereosinophilic syndrome | | | -| MONDO:0867081 | hereditary hyperferritinemia-cataract syndrome | GARD:2806 | MONDO:equivalentTo | Hereditary hyperferritinemia-cataract syndrome | | | -| MONDO:0867082 | isolated glycerol kinase deficiency | GARD:2807 | MONDO:equivalentTo | Isolated glycerol kinase deficiency | | | -| MONDO:0867083 | combined immunodeficiency due to dock8 deficiency | GARD:2816 | MONDO:equivalentTo | Combined immunodeficiency due to DOCK8 deficiency | | | -| MONDO:0867084 | hyperinsulinism due to glucokinase deficiency | GARD:2818 | MONDO:equivalentTo | Hyperinsulinism due to glucokinase deficiency | | | -| MONDO:0867085 | lethal osteosclerotic bone dysplasia | GARD:282 | MONDO:equivalentTo | Lethal osteosclerotic bone dysplasia | | | -| MONDO:0867086 | hyperkeratosis lenticularis perstans | GARD:2824 | MONDO:equivalentTo | Hyperkeratosis lenticularis perstans | | | -| MONDO:0867087 | epidermolytic palmoplantar keratoderma | GARD:2826 | MONDO:equivalentTo | Epidermolytic palmoplantar keratoderma | | | -| MONDO:0867088 | hyperlysinemia | GARD:2828 | MONDO:equivalentTo | Hyperlysinemia | | | -| MONDO:0867089 | hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | GARD:2830 | MONDO:equivalentTo | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | | | -| MONDO:0867090 | juvenile paget disease | GARD:2831 | MONDO:equivalentTo | Juvenile Paget disease | | | -| MONDO:0867091 | hyperostosis corticalis generalisata | GARD:2833 | MONDO:equivalentTo | Hyperostosis corticalis generalisata | | | -| MONDO:0867092 | primary hyperoxaluria type 1 | GARD:2835 | MONDO:equivalentTo | Primary hyperoxaluria type 1 | | | -| MONDO:0867093 | primary hyperoxaluria type 2 | GARD:2836 | MONDO:equivalentTo | Primary hyperoxaluria type 2 | | | -| MONDO:0867094 | familial primary hyperparathyroidism | GARD:2837 | MONDO:equivalentTo | Familial primary hyperparathyroidism | | | -| MONDO:0867095 | neonatal severe primary hyperparathyroidism | GARD:2838 | MONDO:equivalentTo | Neonatal severe primary hyperparathyroidism | | | -| MONDO:0867096 | lymphedema-atrial septal defects-facial changes syndrome | GARD:284 | MONDO:equivalentTo | Lymphedema-atrial septal defects-facial changes syndrome | | | -| MONDO:0867097 | pterin-4 alpha-carbinolamine dehydratase deficiency | GARD:2843 | MONDO:equivalentTo | Pterin-4 alpha-carbinolamine dehydratase deficiency | | | -| MONDO:0867098 | gtp cyclohydrolase i deficiency | GARD:2844 | MONDO:equivalentTo | GTP cyclohydrolase I deficiency | | | -| MONDO:0867099 | hyperprolinemia type 1 | GARD:2847 | MONDO:equivalentTo | Hyperprolinemia type 1 | | | -| MONDO:0867100 | maternal hyperthermia-induced birth defects | GARD:2856 | MONDO:equivalentTo | Maternal hyperthermia-induced birth defects | | | -| MONDO:0867101 | familial hyperthyroidism due to mutations in tsh receptor | GARD:2858 | MONDO:equivalentTo | Familial hyperthyroidism due to mutations in TSH receptor | | | -| MONDO:0867102 | x-linked congenital generalized hypertrichosis | GARD:2863 | MONDO:equivalentTo | X-linked congenital generalized hypertrichosis | | | -| MONDO:0867103 | acquired hypertrichosis lanuginosa | GARD:2864 | MONDO:equivalentTo | Acquired hypertrichosis lanuginosa | | | -| MONDO:0867104 | hypertrichosis lanuginosa congenita | GARD:2865 | MONDO:equivalentTo | Hypertrichosis lanuginosa congenita | | | -| MONDO:0867105 | hypertelorism-hypospadias-polysyndactyly syndrome | GARD:287 | MONDO:equivalentTo | Hypertelorism-hypospadias-polysyndactyly syndrome | | | -| MONDO:0867106 | hypertryptophanemia | GARD:2871 | MONDO:equivalentTo | Hypertryptophanemia | | | -| MONDO:0867107 | apolipoprotein a-i deficiency | GARD:2872 | MONDO:equivalentTo | Apolipoprotein A-I deficiency | | | -| MONDO:0867108 | autosomal dominant hypocalcemia | GARD:2877 | MONDO:equivalentTo | Autosomal dominant hypocalcemia | | | -| MONDO:0867109 | familial hypocalciuric hypercalcemia type 3 | GARD:2878 | MONDO:equivalentTo | Familial hypocalciuric hypercalcemia type 3 | | | -| MONDO:0867110 | hallermann-streiff syndrome | GARD:288 | MONDO:equivalentTo | Hallermann-Streiff syndrome | | | -| MONDO:0867111 | achondrogenesis | GARD:2882 | MONDO:equivalentTo | Achondrogenesis | | | -| MONDO:0867112 | familial hypofibrinogenemia | GARD:2887 | MONDO:equivalentTo | Familial hypofibrinogenemia | | | -| MONDO:0867113 | charge syndrome | GARD:29 | MONDO:equivalentTo | CHARGE syndrome | | | -| MONDO:0867114 | hallermann-streiff-like syndrome | GARD:290 | MONDO:equivalentTo | Hallermann-Streiff-like syndrome | | | -| MONDO:0867115 | familial isolated dilated cardiomyopathy | GARD:2905 | MONDO:equivalentTo | Familial isolated dilated cardiomyopathy | | | -| MONDO:0867116 | primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | GARD:2906 | MONDO:equivalentTo | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | | | -| MONDO:0867117 | hypomandibular faciocranial dysostosis | GARD:2907 | MONDO:equivalentTo | Hypomandibular faciocranial dysostosis | | | -| MONDO:0867118 | müllerian duct anomalies-limb anomalies syndrome | GARD:2908 | MONDO:equivalentTo | Müllerian duct anomalies-limb anomalies syndrome | | | -| MONDO:0867119 | familial isolated hypoparathyroidism | GARD:2910 | MONDO:equivalentTo | Familial isolated hypoparathyroidism | | | -| MONDO:0867120 | hypoparathyroidism-sensorineural deafness-renal disease syndrome | GARD:2911 | MONDO:equivalentTo | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | | | -| MONDO:0867121 | ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome | GARD:292 | MONDO:equivalentTo | Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome | | | -| MONDO:0867122 | hypoplastic right heart syndrome | GARD:2922 | MONDO:equivalentTo | Hypoplastic right heart syndrome | | | -| MONDO:0867123 | congenital factor ii deficiency | GARD:2926 | MONDO:equivalentTo | Congenital factor II deficiency | | | -| MONDO:0867124 | hypospadias-intellectual disability, goldblatt type syndrome | GARD:2928 | MONDO:equivalentTo | Hypospadias-intellectual disability, Goldblatt type syndrome | | | -| MONDO:0867125 | schilbach-rott syndrome | GARD:2930 | MONDO:equivalentTo | Schilbach-Rott syndrome | | | -| MONDO:0867126 | hypoxanthine-guanine phosphoribosyltransferase deficiency | GARD:2943 | MONDO:equivalentTo | Hypoxanthine-guanine phosphoribosyltransferase deficiency | | | -| MONDO:0867127 | icf syndrome | GARD:2945 | MONDO:equivalentTo | ICF syndrome | | | -| MONDO:0867128 | ichthyosis follicularis-alopecia-photophobia syndrome | GARD:2952 | MONDO:equivalentTo | Ichthyosis follicularis-alopecia-photophobia syndrome | | | -| MONDO:0867129 | ichthyosis hystrix of curth-macklin | GARD:2954 | MONDO:equivalentTo | Ichthyosis hystrix of Curth-Macklin | | | -| MONDO:0867130 | short tarsus-absence of lower eyelashes syndrome | GARD:296 | MONDO:equivalentTo | Short tarsus-absence of lower eyelashes syndrome | | | -| MONDO:0867131 | ichthyosis-oral and digital anomalies syndrome | GARD:2960 | MONDO:equivalentTo | Ichthyosis-oral and digital anomalies syndrome | | | -| MONDO:0867132 | superficial epidermolytic ichthyosis | GARD:2966 | MONDO:equivalentTo | Superficial epidermolytic ichthyosis | | | -| MONDO:0867133 | hypergonadotropic hypogonadism-cataract syndrome | GARD:298 | MONDO:equivalentTo | Hypergonadotropic hypogonadism-cataract syndrome | | | -| MONDO:0867134 | short-limb skeletal dysplasia with severe combined immunodeficiency | GARD:2988 | MONDO:equivalentTo | Short-limb skeletal dysplasia with severe combined immunodeficiency | | | -| MONDO:0867135 | imperforate oropharynx-costovertebral anomalies syndrome | GARD:2989 | MONDO:equivalentTo | Imperforate oropharynx-costovertebral anomalies syndrome | | | -| MONDO:0867136 | late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome | GARD:299 | MONDO:equivalentTo | Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome | | | -| MONDO:0867137 | early-onset progressive encephalopathy with migrant continuous myoclonus | GARD:2995 | MONDO:equivalentTo | Early-onset progressive encephalopathy with migrant continuous myoclonus | | | -| MONDO:0867138 | infantile myofibromatosis | GARD:2998 | MONDO:equivalentTo | Infantile myofibromatosis | | | -| MONDO:0867139 | ablepharon macrostomia syndrome | GARD:3 | MONDO:equivalentTo | Ablepharon macrostomia syndrome | | | -| MONDO:0867140 | rare to-be-classified gard diseases | GARD:30000 | MONDO:equivalentTo | Rare to-be-classified GARD Diseases | | | -| MONDO:0867141 | infantile spasms-broad thumbs syndrome | GARD:3002 | MONDO:equivalentTo | Infantile spasms-broad thumbs syndrome | | | -| MONDO:0867142 | hereditary sensory and autonomic neuropathy type 4 | GARD:3006 | MONDO:equivalentTo | Hereditary sensory and autonomic neuropathy type 4 | | | -| MONDO:0867143 | mosaic variegated aneuploidy syndrome | GARD:3007 | MONDO:equivalentTo | Mosaic variegated aneuploidy syndrome | | | -| MONDO:0867144 | insulin-resistance syndrome type a | GARD:3008 | MONDO:equivalentTo | Insulin-resistance syndrome type A | | | -| MONDO:0867145 | insulin-resistance syndrome type b | GARD:3009 | MONDO:equivalentTo | Insulin-resistance syndrome type B | | | -| MONDO:0867146 | insulinoma | GARD:3010 | MONDO:equivalentTo | Insulinoma | | | -| MONDO:0867147 | internal carotid absence | GARD:3012 | MONDO:equivalentTo | Internal carotid absence | | | -| MONDO:0867148 | multiple intestinal atresia | GARD:3013 | MONDO:equivalentTo | Multiple intestinal atresia | | | -| MONDO:0867149 | kostmann syndrome | GARD:302 | MONDO:equivalentTo | Kostmann syndrome | | | -| MONDO:0867150 | cerebral arteriovenous malformation | GARD:3020 | MONDO:equivalentTo | Cerebral arteriovenous malformation | | | -| MONDO:0867151 | congenital intrinsic factor deficiency | GARD:3024 | MONDO:equivalentTo | Congenital intrinsic factor deficiency | | | -| MONDO:0867152 | coxopodopatellar syndrome | GARD:3030 | MONDO:equivalentTo | Coxopodopatellar syndrome | | | -| MONDO:0867153 | isosporiasis | GARD:3033 | MONDO:equivalentTo | Isosporiasis | | | -| MONDO:0867154 | blau syndrome | GARD:304 | MONDO:equivalentTo | Blau syndrome | | | -| MONDO:0867155 | cln2 disease | GARD:3045 | MONDO:equivalentTo | CLN2 disease | | | -| MONDO:0867156 | spondylometaphyseal dysplasia, kozlowski type | GARD:3047 | MONDO:equivalentTo | Spondylometaphyseal dysplasia, Kozlowski type | | | -| MONDO:0867157 | jervell and lange-nielsen syndrome | GARD:3048 | MONDO:equivalentTo | Jervell and Lange-Nielsen syndrome | | | -| MONDO:0867158 | jeune syndrome | GARD:3049 | MONDO:equivalentTo | Jeune syndrome | | | -| MONDO:0867159 | conductive deafness-ptosis-skeletal anomalies syndrome | GARD:305 | MONDO:equivalentTo | Conductive deafness-ptosis-skeletal anomalies syndrome | | | -| MONDO:0867160 | aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome | GARD:3051 | MONDO:equivalentTo | Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome | | | -| MONDO:0867161 | arthrogryposis-hyperkeratosis syndrome, lethal form | GARD:3053 | MONDO:equivalentTo | Arthrogryposis-hyperkeratosis syndrome, lethal form | | | -| MONDO:0867162 | familial articular hypermobility syndrome | GARD:3054 | MONDO:equivalentTo | Familial articular hypermobility syndrome | | | -| MONDO:0867163 | gingival fibromatosis-progressive deafness syndrome | GARD:3056 | MONDO:equivalentTo | Gingival fibromatosis-progressive deafness syndrome | | | -| MONDO:0867164 | camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | GARD:306 | MONDO:equivalentTo | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | | | -| MONDO:0867165 | juberg-hayward syndrome | GARD:3060 | MONDO:equivalentTo | Juberg-Hayward syndrome | | | -| MONDO:0867166 | jung syndrome | GARD:3062 | MONDO:equivalentTo | Jung syndrome | | | -| MONDO:0867167 | juvenile polyposis syndrome | GARD:3065 | MONDO:equivalentTo | Juvenile polyposis syndrome | | | -| MONDO:0867168 | hypotrichosis with juvenile macular degeneration | GARD:3066 | MONDO:equivalentTo | Hypotrichosis with juvenile macular degeneration | | | -| MONDO:0867169 | juvenile temporal arteritis | GARD:3068 | MONDO:equivalentTo | Juvenile temporal arteritis | | | -| MONDO:0867170 | jacobsen syndrome | GARD:307 | MONDO:equivalentTo | Jacobsen syndrome | | | -| MONDO:0867171 | mesomelic dysplasia, kantaputra type | GARD:3074 | MONDO:equivalentTo | Mesomelic dysplasia, Kantaputra type | | | -| MONDO:0867172 | acrocraniofacial dysostosis | GARD:3075 | MONDO:equivalentTo | Acrocraniofacial dysostosis | | | -| MONDO:0867173 | kaposiform hemangioendothelioma | GARD:3077 | MONDO:equivalentTo | Kaposiform hemangioendothelioma | | | -| MONDO:0867174 | kapur-toriello syndrome | GARD:3078 | MONDO:equivalentTo | Kapur-Toriello syndrome | | | -| MONDO:0867175 | oculocerebrofacial syndrome, kaufman type | GARD:3084 | MONDO:equivalentTo | Oculocerebrofacial syndrome, Kaufman type | | | -| MONDO:0867176 | pagod syndrome | GARD:3086 | MONDO:equivalentTo | PAGOD syndrome | | | -| MONDO:0867177 | autosomal dominant keratitis | GARD:3089 | MONDO:equivalentTo | Autosomal dominant keratitis | | | -| MONDO:0867178 | multiple self-healing squamous epithelioma | GARD:3090 | MONDO:equivalentTo | Multiple self-healing squamous epithelioma | | | -| MONDO:0867179 | keratoderma hereditarium mutilans | GARD:3092 | MONDO:equivalentTo | Keratoderma hereditarium mutilans | | | -| MONDO:0867180 | palmoplantar keratoderma-deafness syndrome | GARD:3094 | MONDO:equivalentTo | Palmoplantar keratoderma-deafness syndrome | | | -| MONDO:0867181 | palmoplantar keratoderma-spastic paralysis syndrome | GARD:3095 | MONDO:equivalentTo | Palmoplantar keratoderma-spastic paralysis syndrome | | | -| MONDO:0867182 | transgrediens et progrediens palmoplantar keratoderma | GARD:3096 | MONDO:equivalentTo | Transgrediens et progrediens palmoplantar keratoderma | | | -| MONDO:0867183 | focal palmoplantar and gingival keratoderma | GARD:3098 | MONDO:equivalentTo | Focal palmoplantar and gingival keratoderma | | | -| MONDO:0867184 | keratosis follicularis-dwarfism-cerebral atrophy syndrome | GARD:3099 | MONDO:equivalentTo | Keratosis follicularis-dwarfism-cerebral atrophy syndrome | | | -| MONDO:0867185 | serpiginous choroiditis | GARD:31 | MONDO:equivalentTo | Serpiginous choroiditis | | | -| MONDO:0867186 | chime syndrome | GARD:310 | MONDO:equivalentTo | CHIME syndrome | | | -| MONDO:0867187 | papillon-lefèvre syndrome | GARD:3100 | MONDO:equivalentTo | Papillon-Lefèvre syndrome | | | -| MONDO:0867188 | palmoplantar keratoderma-esophageal carcinoma syndrome | GARD:3102 | MONDO:equivalentTo | Palmoplantar keratoderma-esophageal carcinoma syndrome | | | -| MONDO:0867189 | punctate palmoplantar keratoderma type 1 | GARD:3103 | MONDO:equivalentTo | Punctate palmoplantar keratoderma type 1 | | | -| MONDO:0867190 | tyrosinemia type 2 | GARD:3105 | MONDO:equivalentTo | Tyrosinemia type 2 | | | -| MONDO:0867191 | kerion celsi | GARD:3109 | MONDO:equivalentTo | Kerion celsi | | | -| MONDO:0867192 | anaplastic large cell lymphoma | GARD:3112 | MONDO:equivalentTo | Anaplastic large cell lymphoma | | | -| MONDO:0867193 | kid syndrome | GARD:3113 | MONDO:equivalentTo | KID syndrome | | | -| MONDO:0867194 | kleine-levin syndrome | GARD:3117 | MONDO:equivalentTo | Kleine-Levin syndrome | | | -| MONDO:0867195 | hallux varus-preaxial polysyndactyly syndrome | GARD:3118 | MONDO:equivalentTo | Hallux varus-preaxial polysyndactyly syndrome | | | -| MONDO:0867196 | robinow syndrome | GARD:312 | MONDO:equivalentTo | Robinow syndrome | | | -| MONDO:0867197 | angioosteohypertrophic syndrome | GARD:3122 | MONDO:equivalentTo | Angioosteohypertrophic syndrome | | | -| MONDO:0867198 | lethal kniest-like dysplasia | GARD:3124 | MONDO:equivalentTo | Lethal Kniest-like dysplasia | | | -| MONDO:0867199 | knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | GARD:3125 | MONDO:equivalentTo | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | | | -| MONDO:0867200 | familial partial lipodystrophy, dunnigan type | GARD:3126 | MONDO:equivalentTo | Familial partial lipodystrophy, Dunnigan type | | | -| MONDO:0867201 | amelocerebrohypohidrotic syndrome | GARD:3128 | MONDO:equivalentTo | Amelocerebrohypohidrotic syndrome | | | -| MONDO:0867202 | hereditary hyperekplexia | GARD:3129 | MONDO:equivalentTo | Hereditary hyperekplexia | | | -| MONDO:0867203 | saccharopinuria | GARD:314 | MONDO:equivalentTo | Saccharopinuria | | | -| MONDO:0867204 | intellectual disability-polydactyly-uncombable hair syndrome | GARD:3141 | MONDO:equivalentTo | Intellectual disability-polydactyly-uncombable hair syndrome | | | -| MONDO:0867205 | kuskokwim syndrome | GARD:3150 | MONDO:equivalentTo | Kuskokwim syndrome | | | -| MONDO:0867206 | glycogen storage disease due to lactate dehydrogenase deficiency | GARD:3159 | MONDO:equivalentTo | Glycogen storage disease due to lactate dehydrogenase deficiency | | | -| MONDO:0867207 | glycogen storage disease due to lactate dehydrogenase m-subunit deficiency | GARD:3160 | MONDO:equivalentTo | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | | | -| MONDO:0867208 | glycogen storage disease due to lactate dehydrogenase h-subunit deficiency | GARD:3161 | MONDO:equivalentTo | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | | | -| MONDO:0867209 | fatal infantile lactic acidosis with methylmalonic aciduria | GARD:3163 | MONDO:equivalentTo | Fatal infantile lactic acidosis with methylmalonic aciduria | | | -| MONDO:0867210 | lambert syndrome | GARD:3169 | MONDO:equivalentTo | Lambert syndrome | | | -| MONDO:0867211 | diffuse large b-cell lymphoma | GARD:3178 | MONDO:equivalentTo | Diffuse large B-cell lymphoma | | | -| MONDO:0867212 | lethal larsen-like syndrome | GARD:3181 | MONDO:equivalentTo | Lethal Larsen-like syndrome | | | -| MONDO:0867213 | laryngotracheoesophageal cleft | GARD:3188 | MONDO:equivalentTo | Laryngotracheoesophageal cleft | | | -| MONDO:0867214 | sacrococcygeal teratoma | GARD:319 | MONDO:equivalentTo | Sacrococcygeal teratoma | | | -| MONDO:0867215 | laryngocele | GARD:3191 | MONDO:equivalentTo | Laryngocele | | | -| MONDO:0867216 | larynx atresia | GARD:3194 | MONDO:equivalentTo | Larynx atresia | | | -| MONDO:0867217 | graham little-piccardi-lassueur syndrome | GARD:3195 | MONDO:equivalentTo | Graham Little-Piccardi-Lassueur syndrome | | | -| MONDO:0867218 | fibulo-ulnar hypoplasia-renal anomalies syndrome | GARD:320 | MONDO:equivalentTo | Fibulo-ulnar hypoplasia-renal anomalies syndrome | | | -| MONDO:0867219 | early-onset parkinsonism-intellectual disability syndrome | GARD:3203 | MONDO:equivalentTo | Early-onset parkinsonism-intellectual disability syndrome | | | -| MONDO:0867220 | nail-patella-like renal disease | GARD:321 | MONDO:equivalentTo | Nail-patella-like renal disease | | | -| MONDO:0867221 | branchio-oculo-facial syndrome | GARD:3212 | MONDO:equivalentTo | Branchio-oculo-facial syndrome | | | -| MONDO:0867222 | senior-loken syndrome | GARD:322 | MONDO:equivalentTo | Senior-Loken syndrome | | | -| MONDO:0867223 | lenz-majewski hyperostotic dwarfism | GARD:3223 | MONDO:equivalentTo | Lenz-Majewski hyperostotic dwarfism | | | -| MONDO:0867224 | léri-weill dyschondrosteosis | GARD:3224 | MONDO:equivalentTo | Léri-Weill dyschondrosteosis | | | -| MONDO:0867225 | lethal congenital contracture syndrome type 1 | GARD:3227 | MONDO:equivalentTo | Lethal congenital contracture syndrome type 1 | | | -| MONDO:0867226 | maple syrup urine disease | GARD:3228 | MONDO:equivalentTo | Maple syrup urine disease | | | -| MONDO:0867227 | metachromatic leukodystrophy | GARD:3230 | MONDO:equivalentTo | Metachromatic leukodystrophy | | | -| MONDO:0867228 | ravine syndrome | GARD:3231 | MONDO:equivalentTo | Ravine syndrome | | | -| MONDO:0867229 | leukoencephalopathy-palmoplantar keratoderma syndrome | GARD:3232 | MONDO:equivalentTo | Leukoencephalopathy-palmoplantar keratoderma syndrome | | | -| MONDO:0867230 | ophthalmoplegia-intellectual disability-lingua scrotalis syndrome | GARD:3236 | MONDO:equivalentTo | Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome | | | -| MONDO:0867231 | hypogonadotropic hypogonadism-frontoparietal alopecia syndrome | GARD:324 | MONDO:equivalentTo | Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome | | | -| MONDO:0867232 | autosomal dominant popliteal pterygium syndrome | GARD:3242 | MONDO:equivalentTo | Autosomal dominant popliteal pterygium syndrome | | | -| MONDO:0867233 | leydig cell hypoplasia | GARD:3244 | MONDO:equivalentTo | Leydig cell hypoplasia | | | -| MONDO:0867234 | lichen planopilaris | GARD:3247 | MONDO:equivalentTo | Lichen planopilaris | | | -| MONDO:0867235 | lichtenstein syndrome | GARD:3248 | MONDO:equivalentTo | Lichtenstein syndrome | | | -| MONDO:0867236 | twin to twin transfusion syndrome | GARD:325 | MONDO:equivalentTo | Twin to twin transfusion syndrome | | | -| MONDO:0867237 | limb body wall complex | GARD:3251 | MONDO:equivalentTo | Limb body wall complex | | | -| MONDO:0867238 | distal limb deficiencies-micrognathia syndrome | GARD:3252 | MONDO:equivalentTo | Distal limb deficiencies-micrognathia syndrome | | | -| MONDO:0867239 | linear verrucous nevus syndrome | GARD:3259 | MONDO:equivalentTo | Linear verrucous nevus syndrome | | | -| MONDO:0867240 | neutral lipid storage disease | GARD:3262 | MONDO:equivalentTo | Neutral lipid storage disease | | | -| MONDO:0867241 | pyruvate dehydrogenase e3 deficiency | GARD:3263 | MONDO:equivalentTo | Pyruvate dehydrogenase E3 deficiency | | | -| MONDO:0867242 | lipoid proteinosis | GARD:3268 | MONDO:equivalentTo | Lipoid proteinosis | | | -| MONDO:0867243 | cobblestone lissencephaly | GARD:3277 | MONDO:equivalentTo | Cobblestone lissencephaly | | | -| MONDO:0867244 | loiasis | GARD:3283 | MONDO:equivalentTo | Loiasis | | | -| MONDO:0867245 | romano-ward syndrome | GARD:3284 | MONDO:equivalentTo | Romano-Ward syndrome | | | -| MONDO:0867246 | loose anagen syndrome | GARD:3287 | MONDO:equivalentTo | Loose anagen syndrome | | | -| MONDO:0867247 | wells syndrome | GARD:329 | MONDO:equivalentTo | Wells syndrome | | | -| MONDO:0867248 | oculocerebrorenal syndrome of lowe | GARD:3295 | MONDO:equivalentTo | Oculocerebrorenal syndrome of Lowe | | | -| MONDO:0867249 | wiedemann-rautenstrauch syndrome | GARD:330 | MONDO:equivalentTo | Wiedemann-Rautenstrauch syndrome | | | -| MONDO:0867250 | lowry-maclean syndrome | GARD:3300 | MONDO:equivalentTo | Lowry-MacLean syndrome | | | -| MONDO:0867251 | cystic fibrosis-gastritis-megaloblastic anemia syndrome | GARD:3303 | MONDO:equivalentTo | Cystic fibrosis-gastritis-megaloblastic anemia syndrome | | | -| MONDO:0867252 | lujan-fryns syndrome | GARD:3307 | MONDO:equivalentTo | Lujan-Fryns syndrome | | | -| MONDO:0867253 | yunis-varon syndrome | GARD:331 | MONDO:equivalentTo | Yunis-Varon syndrome | | | -| MONDO:0867254 | cerebellar ataxia-hypogonadism syndrome | GARD:3314 | MONDO:equivalentTo | Cerebellar ataxia-hypogonadism syndrome | | | -| MONDO:0867255 | hennekam syndrome | GARD:3318 | MONDO:equivalentTo | Hennekam syndrome | | | -| MONDO:0867256 | lymphangioleiomyomatosis | GARD:3319 | MONDO:equivalentTo | Lymphangioleiomyomatosis | | | -| MONDO:0867257 | cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | GARD:332 | MONDO:equivalentTo | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | | | -| MONDO:0867258 | lymphatic filariasis | GARD:3321 | MONDO:equivalentTo | Lymphatic filariasis | | | -| MONDO:0867259 | meige disease | GARD:3324 | MONDO:equivalentTo | Meige disease | | | -| MONDO:0867260 | lymphedema-distichiasis syndrome | GARD:333 | MONDO:equivalentTo | Lymphedema-distichiasis syndrome | | | -| MONDO:0867261 | lysinuric protein intolerance | GARD:3335 | MONDO:equivalentTo | Lysinuric protein intolerance | | | -| MONDO:0867262 | dyschromatosis symmetrica hereditaria | GARD:334 | MONDO:equivalentTo | Dyschromatosis symmetrica hereditaria | | | -| MONDO:0867263 | macroglossia | GARD:3342 | MONDO:equivalentTo | Macroglossia | | | -| MONDO:0867264 | beckwith-wiedemann syndrome | GARD:3343 | MONDO:equivalentTo | Beckwith-Wiedemann syndrome | | | -| MONDO:0867265 | hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome | GARD:3347 | MONDO:equivalentTo | Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome | | | -| MONDO:0867266 | blepharophimosis-intellectual disability syndrome, ohdo type | GARD:3348 | MONDO:equivalentTo | Blepharophimosis-intellectual disability syndrome, Ohdo type | | | -| MONDO:0867267 | autosomal dominant primary hypomagnesemia with hypocalciuria | GARD:3350 | MONDO:equivalentTo | Autosomal dominant primary hypomagnesemia with hypocalciuria | | | -| MONDO:0867268 | autosomal recessive spastic paraplegia type 23 | GARD:336 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 23 | | | -| MONDO:0867269 | multiple pterygium-malignant hyperthermia syndrome | GARD:3361 | MONDO:equivalentTo | Multiple pterygium-malignant hyperthermia syndrome | | | -| MONDO:0867270 | malonic aciduria | GARD:3371 | MONDO:equivalentTo | Malonic aciduria | | | -| MONDO:0867271 | dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | GARD:3373 | MONDO:equivalentTo | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | | | -| MONDO:0867272 | mandibuloacral dysplasia with type a lipodystrophy | GARD:3374 | MONDO:equivalentTo | Mandibuloacral dysplasia with type A lipodystrophy | | | -| MONDO:0867273 | lung agenesis-heart defect-thumb anomalies syndrome | GARD:3378 | MONDO:equivalentTo | Lung agenesis-heart defect-thumb anomalies syndrome | | | -| MONDO:0867274 | van den ende-gupta syndrome | GARD:3382 | MONDO:equivalentTo | Van den Ende-Gupta syndrome | | | -| MONDO:0867275 | marfanoid habitus-autosomal recessive intellectual disability syndrome | GARD:3388 | MONDO:equivalentTo | Marfanoid habitus-autosomal recessive intellectual disability syndrome | | | -| MONDO:0867276 | marie unna hereditary hypotrichosis | GARD:3390 | MONDO:equivalentTo | Marie Unna hereditary hypotrichosis | | | -| MONDO:0867277 | oculotrichoanal syndrome | GARD:3395 | MONDO:equivalentTo | Oculotrichoanal syndrome | | | -| MONDO:0867278 | osteocraniostenosis | GARD:3396 | MONDO:equivalentTo | Osteocraniostenosis | | | -| MONDO:0867279 | lethal recessive chondrodysplasia | GARD:3399 | MONDO:equivalentTo | Lethal recessive chondrodysplasia | | | -| MONDO:0867280 | marfanoid syndrome, de silva type | GARD:3401 | MONDO:equivalentTo | Marfanoid syndrome, De Silva type | | | -| MONDO:0867281 | cataract-intellectual disability-hypogonadism syndrome | GARD:3406 | MONDO:equivalentTo | Cataract-intellectual disability-hypogonadism syndrome | | | -| MONDO:0867282 | hennekam-beemer syndrome | GARD:3409 | MONDO:equivalentTo | Hennekam-Beemer syndrome | | | -| MONDO:0867283 | young syndrome | GARD:341 | MONDO:equivalentTo | Young syndrome | | | -| MONDO:0867284 | maternal phenylketonuria | GARD:3413 | MONDO:equivalentTo | Maternal phenylketonuria | | | -| MONDO:0867285 | mcdonough syndrome | GARD:3424 | MONDO:equivalentTo | McDonough syndrome | | | -| MONDO:0867286 | familial scaphocephaly syndrome, mcgillivray type | GARD:3426 | MONDO:equivalentTo | Familial scaphocephaly syndrome, McGillivray type | | | -| MONDO:0867287 | mckusick-kaufman syndrome | GARD:3427 | MONDO:equivalentTo | McKusick-Kaufman syndrome | | | -| MONDO:0867288 | pontocerebellar hypoplasia type 4 | GARD:343 | MONDO:equivalentTo | Pontocerebellar hypoplasia type 4 | | | -| MONDO:0867289 | cleft lip/palate-intestinal malrotation-cardiopathy syndrome | GARD:3430 | MONDO:equivalentTo | Cleft lip/palate-intestinal malrotation-cardiopathy syndrome | | | -| MONDO:0867290 | meacham syndrome | GARD:3432 | MONDO:equivalentTo | Meacham syndrome | | | -| MONDO:0867291 | meckel syndrome | GARD:3436 | MONDO:equivalentTo | Meckel syndrome | | | -| MONDO:0867292 | dysraphism-cleft lip/palate-limb reduction defects syndrome | GARD:3438 | MONDO:equivalentTo | Dysraphism-cleft lip/palate-limb reduction defects syndrome | | | -| MONDO:0867293 | pai syndrome | GARD:3439 | MONDO:equivalentTo | Pai syndrome | | | -| MONDO:0867294 | holoprosencephaly-postaxial polydactyly syndrome | GARD:344 | MONDO:equivalentTo | Holoprosencephaly-postaxial polydactyly syndrome | | | -| MONDO:0867295 | median nodule of the upper lip | GARD:3440 | MONDO:equivalentTo | Median nodule of the upper lip | | | -| MONDO:0867296 | megacystis-microcolon-intestinal hypoperistalsis syndrome | GARD:3442 | MONDO:equivalentTo | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | -| MONDO:0867297 | familial visceral myopathy | GARD:3443 | MONDO:equivalentTo | Familial visceral myopathy | | | -| MONDO:0867298 | megalencephalic leukoencephalopathy with subcortical cysts | GARD:3445 | MONDO:equivalentTo | Megalencephalic leukoencephalopathy with subcortical cysts | | | -| MONDO:0867299 | megalocornea-intellectual disability syndrome | GARD:3448 | MONDO:equivalentTo | Megalocornea-intellectual disability syndrome | | | -| MONDO:0867300 | delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome | GARD:3449 | MONDO:equivalentTo | Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome | | | -| MONDO:0867301 | x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome | GARD:345 | MONDO:equivalentTo | X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome | | | -| MONDO:0867302 | primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | GARD:3451 | MONDO:equivalentTo | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | | | -| MONDO:0867303 | hoyeraal-hreidarsson syndrome | GARD:346 | MONDO:equivalentTo | Hoyeraal-Hreidarsson syndrome | | | -| MONDO:0867304 | familial melanoma | GARD:3460 | MONDO:equivalentTo | Familial melanoma | | | -| MONDO:0867305 | melhem-fahl syndrome | GARD:3462 | MONDO:equivalentTo | Melhem-Fahl syndrome | | | -| MONDO:0867306 | pancreatic hypoplasia-diabetes-congenital heart disease syndrome | GARD:347 | MONDO:equivalentTo | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | | | -| MONDO:0867307 | myelomeningocele | GARD:3475 | MONDO:equivalentTo | Myelomeningocele | | | -| MONDO:0867308 | yolk sac tumor | GARD:348 | MONDO:equivalentTo | Yolk sac tumor | | | -| MONDO:0867309 | cerebrooculonasal syndrome | GARD:3480 | MONDO:equivalentTo | Cerebrooculonasal syndrome | | | -| MONDO:0867310 | severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome | GARD:3482 | MONDO:equivalentTo | Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome | | | -| MONDO:0867311 | intellectual disability, buenos-aires type | GARD:3485 | MONDO:equivalentTo | Intellectual disability, Buenos-Aires type | | | -| MONDO:0867312 | hernández-aguirre negrete syndrome | GARD:3491 | MONDO:equivalentTo | Hernández-Aguirre Negrete syndrome | | | -| MONDO:0867313 | tetrasomy 18p | GARD:35 | MONDO:equivalentTo | Tetrasomy 18p | | | -| MONDO:0867314 | skeletal dysplasia-epilepsy-short stature syndrome | GARD:350 | MONDO:equivalentTo | Skeletal dysplasia-epilepsy-short stature syndrome | | | -| MONDO:0867315 | severe intellectual disability-progressive spastic diplegia syndrome | GARD:3505 | MONDO:equivalentTo | Severe intellectual disability-progressive spastic diplegia syndrome | | | -| MONDO:0867316 | x-linked intellectual disability-psychosis-macroorchidism syndrome | GARD:3506 | MONDO:equivalentTo | X-linked intellectual disability-psychosis-macroorchidism syndrome | | | -| MONDO:0867317 | dacryocystitis-osteopoikilosis syndrome | GARD:351 | MONDO:equivalentTo | Dacryocystitis-osteopoikilosis syndrome | | | -| MONDO:0867318 | intellectual disability-short stature-hypertelorism syndrome | GARD:3514 | MONDO:equivalentTo | Intellectual disability-short stature-hypertelorism syndrome | | | -| MONDO:0867319 | metaphyseal acroscyphodysplasia | GARD:3519 | MONDO:equivalentTo | Metaphyseal acroscyphodysplasia | | | -| MONDO:0867320 | x-linked skeletal dysplasia-intellectual disability syndrome | GARD:3520 | MONDO:equivalentTo | X-linked skeletal dysplasia-intellectual disability syndrome | | | -| MONDO:0867321 | intellectual disability-spasticity-ectrodactyly syndrome | GARD:3523 | MONDO:equivalentTo | Intellectual disability-spasticity-ectrodactyly syndrome | | | -| MONDO:0867322 | mietens syndrome | GARD:3524 | MONDO:equivalentTo | Mietens syndrome | | | -| MONDO:0867323 | intellectual disability, wolff type | GARD:3530 | MONDO:equivalentTo | Intellectual disability, Wolff type | | | -| MONDO:0867324 | monoamine oxidase a deficiency | GARD:3531 | MONDO:equivalentTo | Monoamine oxidase A deficiency | | | -| MONDO:0867325 | atkin-flaitz syndrome | GARD:3537 | MONDO:equivalentTo | Atkin-Flaitz syndrome | | | -| MONDO:0867326 | osteopenia-intellectual disability-sparse hair syndrome | GARD:354 | MONDO:equivalentTo | Osteopenia-intellectual disability-sparse hair syndrome | | | -| MONDO:0867327 | mesomelic dwarfism-cleft palate-camptodactyly syndrome | GARD:3552 | MONDO:equivalentTo | Mesomelic dwarfism-cleft palate-camptodactyly syndrome | | | -| MONDO:0867328 | langer mesomelic dysplasia | GARD:3553 | MONDO:equivalentTo | Langer mesomelic dysplasia | | | -| MONDO:0867329 | mesomelic dysplasia, nievergelt type | GARD:3554 | MONDO:equivalentTo | Mesomelic dysplasia, Nievergelt type | | | -| MONDO:0867330 | mesomelic dwarfism, reinhardt-pfeiffer type | GARD:3555 | MONDO:equivalentTo | Mesomelic dwarfism, Reinhardt-Pfeiffer type | | | -| MONDO:0867331 | syndactyly type 8 | GARD:3559 | MONDO:equivalentTo | Syndactyly type 8 | | | -| MONDO:0867332 | metachondromatosis | GARD:3560 | MONDO:equivalentTo | Metachondromatosis | | | -| MONDO:0867333 | metaphyseal anadysplasia | GARD:3562 | MONDO:equivalentTo | Metaphyseal anadysplasia | | | -| MONDO:0867334 | metaphyseal chondrodysplasia, spahr type | GARD:3563 | MONDO:equivalentTo | Metaphyseal chondrodysplasia, Spahr type | | | -| MONDO:0867335 | metaphyseal dysostosis-intellectual disability-conductive deafness syndrome | GARD:3566 | MONDO:equivalentTo | Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome | | | -| MONDO:0867336 | metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | GARD:3568 | MONDO:equivalentTo | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | | | -| MONDO:0867337 | metatropic dysplasia | GARD:3571 | MONDO:equivalentTo | Metatropic dysplasia | | | -| MONDO:0867338 | methimazole embryofetopathy | GARD:3573 | MONDO:equivalentTo | Methimazole embryofetopathy | | | -| MONDO:0867339 | fetal methylmercury syndrome | GARD:3575 | MONDO:equivalentTo | Fetal methylmercury syndrome | | | -| MONDO:0867340 | methylcobalamin deficiency type cble | GARD:3576 | MONDO:equivalentTo | Methylcobalamin deficiency type cblE | | | -| MONDO:0867341 | methylcobalamin deficiency type cblg | GARD:3577 | MONDO:equivalentTo | Methylcobalamin deficiency type cblG | | | -| MONDO:0867342 | methylmalonic acidemia with homocystinuria | GARD:3579 | MONDO:equivalentTo | Methylmalonic acidemia with homocystinuria | | | -| MONDO:0867343 | w syndrome | GARD:358 | MONDO:equivalentTo | W syndrome | | | -| MONDO:0867344 | methylmalonic acidemia with homocystinuria, type cbld | GARD:3582 | MONDO:equivalentTo | Methylmalonic acidemia with homocystinuria, type cblD | | | -| MONDO:0867345 | methylmalonic acidemia with homocystinuria type cblf | GARD:3584 | MONDO:equivalentTo | Methylmalonic acidemia with homocystinuria type cblF | | | -| MONDO:0867346 | vitamin b12-unresponsive methylmalonic acidemia | GARD:3586 | MONDO:equivalentTo | Vitamin B12-unresponsive methylmalonic acidemia | | | -| MONDO:0867347 | mevalonic aciduria | GARD:3588 | MONDO:equivalentTo | Mevalonic aciduria | | | -| MONDO:0867348 | multiple benign circumferential skin creases on limbs | GARD:3589 | MONDO:equivalentTo | Multiple benign circumferential skin creases on limbs | | | -| MONDO:0867349 | cranioectodermal dysplasia | GARD:359 | MONDO:equivalentTo | Cranioectodermal dysplasia | | | -| MONDO:0867350 | microbrachycephaly-ptosis-cleft lip syndrome | GARD:3596 | MONDO:equivalentTo | Microbrachycephaly-ptosis-cleft lip syndrome | | | -| MONDO:0867351 | abruzzo-erickson syndrome | GARD:360 | MONDO:equivalentTo | Abruzzo-Erickson syndrome | | | -| MONDO:0867352 | microcephalic primordial dwarfism, toriello type | GARD:3602 | MONDO:equivalentTo | Microcephalic primordial dwarfism, Toriello type | | | -| MONDO:0867353 | isolated congenital microcephaly | GARD:3603 | MONDO:equivalentTo | Isolated congenital microcephaly | | | -| MONDO:0867354 | microcephaly-albinism-digital anomalies syndrome | GARD:3604 | MONDO:equivalentTo | Microcephaly-albinism-digital anomalies syndrome | | | -| MONDO:0867355 | autosomal dominant primary microcephaly | GARD:3605 | MONDO:equivalentTo | Autosomal dominant primary microcephaly | | | -| MONDO:0867356 | microcephaly-brain defect-spasticity-hypernatremia syndrome | GARD:3607 | MONDO:equivalentTo | Microcephaly-brain defect-spasticity-hypernatremia syndrome | | | -| MONDO:0867357 | microcephaly-cardiomyopathy syndrome | GARD:3609 | MONDO:equivalentTo | Microcephaly-cardiomyopathy syndrome | | | -| MONDO:0867358 | acalvaria | GARD:361 | MONDO:equivalentTo | Acalvaria | | | -| MONDO:0867359 | microcephaly-cervical spine fusion anomalies syndrome | GARD:3610 | MONDO:equivalentTo | Microcephaly-cervical spine fusion anomalies syndrome | | | -| MONDO:0867360 | microcephaly-glomerulonephritis-marfanoid habitus syndrome | GARD:3615 | MONDO:equivalentTo | Microcephaly-glomerulonephritis-marfanoid habitus syndrome | | | -| MONDO:0867361 | mikati-najjar-sahli syndrome | GARD:3617 | MONDO:equivalentTo | Mikati-Najjar-Sahli syndrome | | | -| MONDO:0867362 | microcephaly-lymphedema-chorioretinopathy syndrome | GARD:3622 | MONDO:equivalentTo | Microcephaly-lymphedema-chorioretinopathy syndrome | | | -| MONDO:0867363 | microcephaly-microcornea syndrome, seemanova type | GARD:3627 | MONDO:equivalentTo | Microcephaly-microcornea syndrome, Seemanova type | | | -| MONDO:0867364 | acatalasemia | GARD:363 | MONDO:equivalentTo | Acatalasemia | | | -| MONDO:0867365 | congenital microcoria | GARD:3635 | MONDO:equivalentTo | Congenital microcoria | | | -| MONDO:0867366 | microcornea-glaucoma-absent frontal sinuses syndrome | GARD:3637 | MONDO:equivalentTo | Microcornea-glaucoma-absent frontal sinuses syndrome | | | -| MONDO:0867367 | isolated arrhinia | GARD:364 | MONDO:equivalentTo | Isolated arrhinia | | | -| MONDO:0867368 | microgastria-limb reduction defect syndrome | GARD:3640 | MONDO:equivalentTo | Microgastria-limb reduction defect syndrome | | | -| MONDO:0867369 | autosomal dominant omodysplasia | GARD:3643 | MONDO:equivalentTo | Autosomal dominant omodysplasia | | | -| MONDO:0867370 | colobomatous microphthalmia | GARD:3644 | MONDO:equivalentTo | Colobomatous microphthalmia | | | -| MONDO:0867371 | microphthalmia with brain and digit anomalies | GARD:3645 | MONDO:equivalentTo | Microphthalmia with brain and digit anomalies | | | -| MONDO:0867372 | aromatase deficiency | GARD:365 | MONDO:equivalentTo | Aromatase deficiency | | | -| MONDO:0867373 | microphthalmia-microtia-fetal akinesia syndrome | GARD:3650 | MONDO:equivalentTo | Microphthalmia-microtia-fetal akinesia syndrome | | | -| MONDO:0867374 | microscopic polyangiitis | GARD:3652 | MONDO:equivalentTo | Microscopic polyangiitis | | | -| MONDO:0867375 | oculoauriculovertebral spectrum with radial defects | GARD:3653 | MONDO:equivalentTo | Oculoauriculovertebral spectrum with radial defects | | | -| MONDO:0867376 | microsporidiosis | GARD:3655 | MONDO:equivalentTo | Microsporidiosis | | | -| MONDO:0867377 | microphthalmia with linear skin defects syndrome | GARD:3659 | MONDO:equivalentTo | Microphthalmia with linear skin defects syndrome | | | -| MONDO:0867378 | miller fisher syndrome | GARD:3668 | MONDO:equivalentTo | Miller Fisher syndrome | | | -| MONDO:0867379 | miller-dieker syndrome | GARD:3669 | MONDO:equivalentTo | Miller-Dieker syndrome | | | -| MONDO:0867380 | mitochondrial dna-associated leigh syndrome | GARD:3671 | MONDO:equivalentTo | Mitochondrial DNA-associated Leigh syndrome | | | -| MONDO:0867381 | non-spherocytic hemolytic anemia due to hexokinase deficiency | GARD:3672 | MONDO:equivalentTo | Non-spherocytic hemolytic anemia due to hexokinase deficiency | | | -| MONDO:0867382 | laryngo-onycho-cutaneous syndrome | GARD:368 | MONDO:equivalentTo | Laryngo-onycho-cutaneous syndrome | | | -| MONDO:0867383 | mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria | GARD:3681 | MONDO:equivalentTo | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | | | -| MONDO:0867384 | mitochondrial myopathy-lactic acidosis-deafness syndrome | GARD:3682 | MONDO:equivalentTo | Mitochondrial myopathy-lactic acidosis-deafness syndrome | | | -| MONDO:0867385 | mitochondrial trifunctional protein deficiency | GARD:3684 | MONDO:equivalentTo | Mitochondrial trifunctional protein deficiency | | | -| MONDO:0867386 | mitral atresia | GARD:3685 | MONDO:equivalentTo | Mitral atresia | | | -| MONDO:0867387 | familial mitral valve prolapse | GARD:3687 | MONDO:equivalentTo | Familial mitral valve prolapse | | | -| MONDO:0867388 | xq21 microdeletion syndrome | GARD:369 | MONDO:equivalentTo | Xq21 microdeletion syndrome | | | -| MONDO:0867389 | melorheostosis with osteopoikilosis | GARD:3690 | MONDO:equivalentTo | Melorheostosis with osteopoikilosis | | | -| MONDO:0867390 | syndromic microphthalmia type 5 | GARD:3692 | MONDO:equivalentTo | Syndromic microphthalmia type 5 | | | -| MONDO:0867391 | mmep syndrome | GARD:3693 | MONDO:equivalentTo | MMEP syndrome | | | -| MONDO:0867392 | mody | GARD:3697 | MONDO:equivalentTo | MODY | | | -| MONDO:0867393 | moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome | GARD:3698 | MONDO:equivalentTo | Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome | | | -| MONDO:0867394 | fryns syndrome | GARD:3699 | MONDO:equivalentTo | Fryns syndrome | | | -| MONDO:0867395 | partial deletion of the short arm of chromosome 3 | GARD:37 | MONDO:equivalentTo | Partial deletion of the short arm of chromosome 3 | | | -| MONDO:0867396 | cholestasis-lymphedema syndrome | GARD:370 | MONDO:equivalentTo | Cholestasis-lymphedema syndrome | | | -| MONDO:0867397 | orofaciodigital syndrome type 2 | GARD:3701 | MONDO:equivalentTo | Orofaciodigital syndrome type 2 | | | -| MONDO:0867398 | choroidal atrophy-alopecia syndrome | GARD:3704 | MONDO:equivalentTo | Choroidal atrophy-alopecia syndrome | | | -| MONDO:0867399 | sulfite oxidase deficiency due to molybdenum cofactor deficiency | GARD:3705 | MONDO:equivalentTo | Sulfite oxidase deficiency due to molybdenum cofactor deficiency | | | -| MONDO:0867400 | tetramelic monodactyly | GARD:3707 | MONDO:equivalentTo | Tetramelic monodactyly | | | -| MONDO:0867401 | qazi-markouizos syndrome | GARD:371 | MONDO:equivalentTo | Qazi-Markouizos syndrome | | | -| MONDO:0867402 | distal monosomy 10q | GARD:3711 | MONDO:equivalentTo | Distal monosomy 10q | | | -| MONDO:0867403 | neurofibromatosis-noonan syndrome | GARD:372 | MONDO:equivalentTo | Neurofibromatosis-Noonan syndrome | | | -| MONDO:0867404 | quinquaud folliculitis decalvans | GARD:373 | MONDO:equivalentTo | Quinquaud folliculitis decalvans | | | -| MONDO:0867405 | 1q41q42 microdeletion syndrome | GARD:3738 | MONDO:equivalentTo | 1q41q42 microdeletion syndrome | | | -| MONDO:0867406 | pectus excavatum-macrocephaly-dysplastic nails syndrome | GARD:374 | MONDO:equivalentTo | Pectus excavatum-macrocephaly-dysplastic nails syndrome | | | -| MONDO:0867407 | 2q24 microdeletion syndrome | GARD:3746 | MONDO:equivalentTo | 2q24 microdeletion syndrome | | | -| MONDO:0867408 | cleft lip/palate-ectodermal dysplasia syndrome | GARD:375 | MONDO:equivalentTo | Cleft lip/palate-ectodermal dysplasia syndrome | | | -| MONDO:0867409 | distal monosomy 3p | GARD:3750 | MONDO:equivalentTo | Distal monosomy 3p | | | -| MONDO:0867410 | acheiropodia | GARD:376 | MONDO:equivalentTo | Acheiropodia | | | -| MONDO:0867411 | 6q25 microdeletion syndrome | GARD:3764 | MONDO:equivalentTo | 6q25 microdeletion syndrome | | | -| MONDO:0867412 | familial monosomy 7 syndrome | GARD:3765 | MONDO:equivalentTo | Familial monosomy 7 syndrome | | | -| MONDO:0867413 | 8p23.1 microdeletion syndrome | GARD:3769 | MONDO:equivalentTo | 8p23.1 microdeletion syndrome | | | -| MONDO:0867414 | congenital absence/hypoplasia of fingers excluding thumb, unilateral | GARD:377 | MONDO:equivalentTo | Congenital absence/hypoplasia of fingers excluding thumb, unilateral | | | -| MONDO:0867415 | monosomy 9p | GARD:3773 | MONDO:equivalentTo | Monosomy 9p | | | -| MONDO:0867416 | johnson neuroectodermal syndrome | GARD:378 | MONDO:equivalentTo | Johnson neuroectodermal syndrome | | | -| MONDO:0867417 | mucopolysaccharidosis type 4a | GARD:3785 | MONDO:equivalentTo | Mucopolysaccharidosis type 4A | | | -| MONDO:0867418 | mucopolysaccharidosis type 4b | GARD:3786 | MONDO:equivalentTo | Mucopolysaccharidosis type 4B | | | -| MONDO:0867419 | vipoma | GARD:3787 | MONDO:equivalentTo | VIPoma | | | -| MONDO:0867420 | lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | GARD:3788 | MONDO:equivalentTo | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | | | -| MONDO:0867421 | renal tubular dysgenesis | GARD:379 | MONDO:equivalentTo | Renal tubular dysgenesis | | | -| MONDO:0867422 | peripheral motor neuropathy-dysautonomia syndrome | GARD:3791 | MONDO:equivalentTo | Peripheral motor neuropathy-dysautonomia syndrome | | | -| MONDO:0867423 | mounier-kühn syndrome | GARD:3793 | MONDO:equivalentTo | Mounier-Kühn syndrome | | | -| MONDO:0867424 | spastic ataxia-corneal dystrophy syndrome | GARD:3795 | MONDO:equivalentTo | Spastic ataxia-corneal dystrophy syndrome | | | -| MONDO:0867425 | knobloch syndrome | GARD:380 | MONDO:equivalentTo | Knobloch syndrome | | | -| MONDO:0867426 | mucolipidosis type iii | GARD:3806 | MONDO:equivalentTo | Mucolipidosis type III | | | -| MONDO:0867427 | mucopolysaccharidosis type 3 | GARD:3807 | MONDO:equivalentTo | Mucopolysaccharidosis type 3 | | | -| MONDO:0867428 | arachnodactyly-abnormal ossification-intellectual disability syndrome | GARD:381 | MONDO:equivalentTo | Arachnodactyly-abnormal ossification-intellectual disability syndrome | | | -| MONDO:0867429 | multicentric carpo-tarsal osteolysis with or without nephropathy | GARD:3818 | MONDO:equivalentTo | Multicentric carpo-tarsal osteolysis with or without nephropathy | | | -| MONDO:0867430 | multiple carboxylase deficiency | GARD:3824 | MONDO:equivalentTo | Multiple carboxylase deficiency | | | -| MONDO:0867431 | multiple endocrine neoplasia type 1 | GARD:3829 | MONDO:equivalentTo | Multiple endocrine neoplasia type 1 | | | -| MONDO:0867432 | albers-schönberg osteopetrosis | GARD:383 | MONDO:equivalentTo | Albers-Schönberg osteopetrosis | | | -| MONDO:0867433 | multiple endocrine neoplasia type 2 | GARD:3830 | MONDO:equivalentTo | Multiple endocrine neoplasia type 2 | | | -| MONDO:0867434 | lethal multiple pterygium syndrome | GARD:3834 | MONDO:equivalentTo | Lethal multiple pterygium syndrome | | | -| MONDO:0867435 | multiple synostoses syndrome | GARD:3836 | MONDO:equivalentTo | Multiple synostoses syndrome | | | -| MONDO:0867436 | adult syndrome | GARD:384 | MONDO:equivalentTo | ADULT syndrome | | | -| MONDO:0867437 | laminin subunit alpha 2-related congenital muscular dystrophy | GARD:3843 | MONDO:equivalentTo | Laminin subunit alpha 2-related congenital muscular dystrophy | | | -| MONDO:0867438 | trim32-related limb-girdle muscular dystrophy r8 | GARD:3844 | MONDO:equivalentTo | TRIM32-related limb-girdle muscular dystrophy R8 | | | -| MONDO:0867439 | zimmermann-laband syndrome | GARD:385 | MONDO:equivalentTo | Zimmermann-Laband syndrome | | | -| MONDO:0867440 | beta-sarcoglycan-related limb-girdle muscular dystrophy r4 | GARD:3851 | MONDO:equivalentTo | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | | | -| MONDO:0867441 | becker nevus syndrome | GARD:3856 | MONDO:equivalentTo | Becker nevus syndrome | | | -| MONDO:0867442 | glycogen storage disease due to muscle phosphorylase kinase deficiency | GARD:3858 | MONDO:equivalentTo | Glycogen storage disease due to muscle phosphorylase kinase deficiency | | | -| MONDO:0867443 | tetraamelia-multiple malformations syndrome | GARD:386 | MONDO:equivalentTo | Tetraamelia-multiple malformations syndrome | | | -| MONDO:0867444 | mycetoma | GARD:3862 | MONDO:equivalentTo | Mycetoma | | | -| MONDO:0867445 | classic mycosis fungoides | GARD:3863 | MONDO:equivalentTo | Classic mycosis fungoides | | | -| MONDO:0867446 | ataxia-pancytopenia syndrome | GARD:3865 | MONDO:equivalentTo | Ataxia-pancytopenia syndrome | | | -| MONDO:0867447 | myeloperoxidase deficiency | GARD:3868 | MONDO:equivalentTo | Myeloperoxidase deficiency | | | -| MONDO:0867448 | combined immunodeficiency due to zap70 deficiency | GARD:387 | MONDO:equivalentTo | Combined immunodeficiency due to ZAP70 deficiency | | | -| MONDO:0867449 | progressive myoclonic epilepsy type 6 | GARD:3872 | MONDO:equivalentTo | Progressive myoclonic epilepsy type 6 | | | -| MONDO:0867450 | myoclonus-cerebellar ataxia-deafness syndrome | GARD:3873 | MONDO:equivalentTo | Myoclonus-cerebellar ataxia-deafness syndrome | | | -| MONDO:0867451 | spinal muscular atrophy-progressive myoclonic epilepsy syndrome | GARD:3875 | MONDO:equivalentTo | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | | | -| MONDO:0867452 | progressive myoclonic epilepsy type 1 | GARD:3876 | MONDO:equivalentTo | Progressive myoclonic epilepsy type 1 | | | -| MONDO:0867453 | myopathy and diabetes mellitus | GARD:3881 | MONDO:equivalentTo | Myopathy and diabetes mellitus | | | -| MONDO:0867454 | tubular aggregate myopathy | GARD:3884 | MONDO:equivalentTo | Tubular aggregate myopathy | | | -| MONDO:0867455 | mitochondrial myopathy and sideroblastic anemia | GARD:3885 | MONDO:equivalentTo | Mitochondrial myopathy and sideroblastic anemia | | | -| MONDO:0867456 | carey-fineman-ziter syndrome | GARD:3889 | MONDO:equivalentTo | Carey-Fineman-Ziter syndrome | | | -| MONDO:0867457 | x-linked myopathy with excessive autophagy | GARD:3892 | MONDO:equivalentTo | X-linked myopathy with excessive autophagy | | | -| MONDO:0867458 | inclusion body myositis | GARD:3896 | MONDO:equivalentTo | Inclusion body myositis | | | -| MONDO:0867459 | wt limb-blood syndrome | GARD:39 | MONDO:equivalentTo | WT limb-blood syndrome | | | -| MONDO:0867460 | endosteal hyperostosis, worth type | GARD:390 | MONDO:equivalentTo | Endosteal hyperostosis, Worth type | | | -| MONDO:0867461 | n syndrome | GARD:3902 | MONDO:equivalentTo | N syndrome | | | -| MONDO:0867462 | alpha-n-acetylgalactosaminidase deficiency type 3 | GARD:3903 | MONDO:equivalentTo | Alpha-N-acetylgalactosaminidase deficiency type 3 | | | -| MONDO:0867463 | nijmegen breakage syndrome | GARD:3904 | MONDO:equivalentTo | Nijmegen breakage syndrome | | | -| MONDO:0867464 | isolated complex i deficiency | GARD:3908 | MONDO:equivalentTo | Isolated complex I deficiency | | | -| MONDO:0867465 | osteomesopyknosis | GARD:391 | MONDO:equivalentTo | Osteomesopyknosis | | | -| MONDO:0867466 | naegeli-franceschetti-jadassohn syndrome | GARD:3912 | MONDO:equivalentTo | Naegeli-Franceschetti-Jadassohn syndrome | | | -| MONDO:0867467 | isolated growth hormone deficiency type ib | GARD:3919 | MONDO:equivalentTo | Isolated growth hormone deficiency type IB | | | -| MONDO:0867468 | isolated growth hormone deficiency type iii | GARD:3921 | MONDO:equivalentTo | Isolated growth hormone deficiency type III | | | -| MONDO:0867469 | growth hormone insensitivity syndrome | GARD:3924 | MONDO:equivalentTo | Growth hormone insensitivity syndrome | | | -| MONDO:0867470 | nasopalpebral lipoma-coloboma syndrome | GARD:3927 | MONDO:equivalentTo | Nasopalpebral lipoma-coloboma syndrome | | | -| MONDO:0867471 | neuronal intestinal pseudoobstruction | GARD:3928 | MONDO:equivalentTo | Neuronal intestinal pseudoobstruction | | | -| MONDO:0867472 | nathalie syndrome | GARD:3929 | MONDO:equivalentTo | Nathalie syndrome | | | -| MONDO:0867473 | tungiasis | GARD:393 | MONDO:equivalentTo | Tungiasis | | | -| MONDO:0867474 | rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | GARD:3931 | MONDO:equivalentTo | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | -| MONDO:0867475 | perlman syndrome | GARD:3936 | MONDO:equivalentTo | Perlman syndrome | | | -| MONDO:0867476 | radioulnar synostosis-microcephaly-scoliosis syndrome | GARD:394 | MONDO:equivalentTo | Radioulnar synostosis-microcephaly-scoliosis syndrome | | | -| MONDO:0867477 | nephropathy-deafness-hyperparathyroidism syndrome | GARD:3940 | MONDO:equivalentTo | Nephropathy-deafness-hyperparathyroidism syndrome | | | -| MONDO:0867478 | nephrosis-deafness-urinary tract-digital malformations syndrome | GARD:3943 | MONDO:equivalentTo | Nephrosis-deafness-urinary tract-digital malformations syndrome | | | -| MONDO:0867479 | genetic steroid-resistant nephrotic syndrome | GARD:3946 | MONDO:equivalentTo | Genetic steroid-resistant nephrotic syndrome | | | -| MONDO:0867480 | congenital isolated hyperinsulinism | GARD:3947 | MONDO:equivalentTo | Congenital isolated hyperinsulinism | | | -| MONDO:0867481 | tremor-nystagmus-duodenal ulcer syndrome | GARD:3948 | MONDO:equivalentTo | Tremor-nystagmus-duodenal ulcer syndrome | | | -| MONDO:0867482 | neuhauser-eichner-opitz syndrome | GARD:3949 | MONDO:equivalentTo | Neuhauser-Eichner-Opitz syndrome | | | -| MONDO:0867483 | retinal degeneration-nanophthalmos-glaucoma syndrome | GARD:395 | MONDO:equivalentTo | Retinal degeneration-nanophthalmos-glaucoma syndrome | | | -| MONDO:0867484 | galactosialidosis | GARD:3953 | MONDO:equivalentTo | Galactosialidosis | | | -| MONDO:0867485 | choreoacanthocytosis | GARD:3956 | MONDO:equivalentTo | Choreoacanthocytosis | | | -| MONDO:0867486 | infantile neuroaxonal dystrophy | GARD:3957 | MONDO:equivalentTo | Infantile neuroaxonal dystrophy | | | -| MONDO:0867487 | tularemia | GARD:396 | MONDO:equivalentTo | Tularemia | | | -| MONDO:0867488 | neurofaciodigitorenal syndrome | GARD:3964 | MONDO:equivalentTo | Neurofaciodigitorenal syndrome | | | -| MONDO:0867489 | neurofibromatosis type 6 | GARD:3967 | MONDO:equivalentTo | Neurofibromatosis type 6 | | | -| MONDO:0867490 | neuronal intranuclear inclusion disease | GARD:3971 | MONDO:equivalentTo | Neuronal intranuclear inclusion disease | | | -| MONDO:0867491 | navajo neurohepatopathy | GARD:3972 | MONDO:equivalentTo | Navajo neurohepatopathy | | | -| MONDO:0867492 | charcot-marie-tooth disease type 4d | GARD:3973 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 4D | | | -| MONDO:0867493 | hereditary sensory and autonomic neuropathy type 2 | GARD:3976 | MONDO:equivalentTo | Hereditary sensory and autonomic neuropathy type 2 | | | -| MONDO:0867494 | neutral lipid storage disease with ichthyosis | GARD:3979 | MONDO:equivalentTo | Neutral lipid storage disease with ichthyosis | | | -| MONDO:0867495 | x-linked severe congenital neutropenia | GARD:3981 | MONDO:equivalentTo | X-linked severe congenital neutropenia | | | -| MONDO:0867496 | neutropenia-monocytopenia-deafness syndrome | GARD:3982 | MONDO:equivalentTo | Neutropenia-monocytopenia-deafness syndrome | | | -| MONDO:0867497 | familial multiple nevi flammei | GARD:3986 | MONDO:equivalentTo | Familial multiple nevi flammei | | | -| MONDO:0867498 | 46,xx testicular disorder of sex development | GARD:399 | MONDO:equivalentTo | 46,XX testicular disorder of sex development | | | -| MONDO:0867499 | night blindness-skeletal anomalies-dysmorphism syndrome | GARD:3994 | MONDO:equivalentTo | Night blindness-skeletal anomalies-dysmorphism syndrome | | | -| MONDO:0867500 | congenital stationary night blindness | GARD:3995 | MONDO:equivalentTo | Congenital stationary night blindness | | | -| MONDO:0867501 | ectopia lentis-chorioretinal dystrophy-myopia syndrome | GARD:3999 | MONDO:equivalentTo | Ectopia lentis-chorioretinal dystrophy-myopia syndrome | | | -| MONDO:0867502 | gapo syndrome | GARD:400 | MONDO:equivalentTo | GAPO syndrome | | | -| MONDO:0867503 | noma | GARD:4001 | MONDO:equivalentTo | Noma | | | -| MONDO:0867504 | maternally-inherited diabetes and deafness | GARD:4003 | MONDO:equivalentTo | Maternally-inherited diabetes and deafness | | | -| MONDO:0867505 | progressive epilepsy-intellectual disability syndrome, finnish type | GARD:4010 | MONDO:equivalentTo | Progressive epilepsy-intellectual disability syndrome, Finnish type | | | -| MONDO:0867506 | familial lcat deficiency | GARD:4011 | MONDO:equivalentTo | Familial LCAT deficiency | | | -| MONDO:0867507 | port-wine nevi-mega cisterna magna-hydrocephalus syndrome | GARD:4014 | MONDO:equivalentTo | Port-wine nevi-mega cisterna magna-hydrocephalus syndrome | | | -| MONDO:0867508 | occipital horn syndrome | GARD:4017 | MONDO:equivalentTo | Occipital horn syndrome | | | -| MONDO:0867509 | primary tethered cord syndrome | GARD:4018 | MONDO:equivalentTo | Primary tethered cord syndrome | | | -| MONDO:0867510 | oculoauriculofrontonasal syndrome | GARD:4031 | MONDO:equivalentTo | Oculoauriculofrontonasal syndrome | | | -| MONDO:0867511 | oculocerebral hypopigmentation syndrome, preus type | GARD:4034 | MONDO:equivalentTo | Oculocerebral hypopigmentation syndrome, Preus type | | | -| MONDO:0867512 | oculocutaneous albinism type 1 | GARD:4037 | MONDO:equivalentTo | Oculocutaneous albinism type 1 | | | -| MONDO:0867513 | oculocutaneous albinism type 2 | GARD:4038 | MONDO:equivalentTo | Oculocutaneous albinism type 2 | | | -| MONDO:0867514 | oculocutaneous albinism type 3 | GARD:4039 | MONDO:equivalentTo | Oculocutaneous albinism type 3 | | | -| MONDO:0867515 | osteoporosis-oculocutaneous hypopigmentation syndrome | GARD:404 | MONDO:equivalentTo | Osteoporosis-oculocutaneous hypopigmentation syndrome | | | -| MONDO:0867516 | oculomaxillofacial dysostosis | GARD:4046 | MONDO:equivalentTo | Oculomaxillofacial dysostosis | | | -| MONDO:0867517 | arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | GARD:4047 | MONDO:equivalentTo | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | | | -| MONDO:0867518 | subaortic stenosis-short stature syndrome | GARD:405 | MONDO:equivalentTo | Subaortic stenosis-short stature syndrome | | | -| MONDO:0867519 | severe oculo-renal-cerebellar syndrome | GARD:4050 | MONDO:equivalentTo | Severe oculo-renal-cerebellar syndrome | | | -| MONDO:0867520 | odonto-onycho dysplasia-alopecia syndrome | GARD:4051 | MONDO:equivalentTo | Odonto-onycho dysplasia-alopecia syndrome | | | -| MONDO:0867521 | odontomicronychial dysplasia | GARD:4053 | MONDO:equivalentTo | Odontomicronychial dysplasia | | | -| MONDO:0867522 | odonto-onycho-dermal dysplasia | GARD:4054 | MONDO:equivalentTo | Odonto-onycho-dermal dysplasia | | | -| MONDO:0867523 | foveal hypoplasia-presenile cataract syndrome | GARD:406 | MONDO:equivalentTo | Foveal hypoplasia-presenile cataract syndrome | | | -| MONDO:0867524 | orofaciodigital syndrome type 8 | GARD:4060 | MONDO:equivalentTo | Orofaciodigital syndrome type 8 | | | -| MONDO:0867525 | orofaciodigital syndrome type 10 | GARD:4061 | MONDO:equivalentTo | Orofaciodigital syndrome type 10 | | | -| MONDO:0867526 | infantile-onset spinocerebellar ataxia | GARD:4062 | MONDO:equivalentTo | Infantile-onset spinocerebellar ataxia | | | -| MONDO:0867527 | okamoto syndrome | GARD:4064 | MONDO:equivalentTo | Okamoto syndrome | | | -| MONDO:0867528 | postaxial tetramelic oligodactyly | GARD:4065 | MONDO:equivalentTo | Postaxial tetramelic oligodactyly | | | -| MONDO:0867529 | oligomeganephronia | GARD:4066 | MONDO:equivalentTo | Oligomeganephronia | | | -| MONDO:0867530 | oliver syndrome | GARD:4069 | MONDO:equivalentTo | Oliver syndrome | | | -| MONDO:0867531 | ermine phenotype | GARD:407 | MONDO:equivalentTo | Ermine phenotype | | | -| MONDO:0867532 | olivopontocerebellar atrophy-deafness syndrome | GARD:4070 | MONDO:equivalentTo | Olivopontocerebellar atrophy-deafness syndrome | | | -| MONDO:0867533 | spinocerebellar ataxia type 1 | GARD:4071 | MONDO:equivalentTo | Spinocerebellar ataxia type 1 | | | -| MONDO:0867534 | spinocerebellar ataxia type 2 | GARD:4072 | MONDO:equivalentTo | Spinocerebellar ataxia type 2 | | | -| MONDO:0867535 | mutilating palmoplantar keratoderma with periorificial keratotic plaques | GARD:4075 | MONDO:equivalentTo | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | | | -| MONDO:0867536 | autosomal recessive omodysplasia | GARD:4076 | MONDO:equivalentTo | Autosomal recessive omodysplasia | | | -| MONDO:0867537 | lethal omphalocele-cleft palate syndrome | GARD:4079 | MONDO:equivalentTo | Lethal omphalocele-cleft palate syndrome | | | -| MONDO:0867538 | short stature due to growth hormone qualitative anomaly | GARD:408 | MONDO:equivalentTo | Short stature due to growth hormone qualitative anomaly | | | -| MONDO:0867539 | cloacal exstrophy | GARD:4080 | MONDO:equivalentTo | Cloacal exstrophy | | | -| MONDO:0867540 | omphalomesenteric cyst | GARD:4081 | MONDO:equivalentTo | Omphalomesenteric cyst | | | -| MONDO:0867541 | cooks syndrome | GARD:4083 | MONDO:equivalentTo | Cooks syndrome | | | -| MONDO:0867542 | poikiloderma with neutropenia | GARD:4085 | MONDO:equivalentTo | Poikiloderma with neutropenia | | | -| MONDO:0867543 | pachygyria-intellectual disability-epilepsy syndrome | GARD:409 | MONDO:equivalentTo | Pachygyria-intellectual disability-epilepsy syndrome | | | -| MONDO:0867544 | opsismodysplasia | GARD:4098 | MONDO:equivalentTo | Opsismodysplasia | | | -| MONDO:0867545 | renal coloboma syndrome | GARD:4106 | MONDO:equivalentTo | Renal coloboma syndrome | | | -| MONDO:0867546 | optic pathway glioma | GARD:4107 | MONDO:equivalentTo | Optic pathway glioma | | | -| MONDO:0867547 | sanjad-sakati syndrome | GARD:411 | MONDO:equivalentTo | Sanjad-Sakati syndrome | | | -| MONDO:0867548 | oromandibular-limb hypogenesis syndrome | GARD:4116 | MONDO:equivalentTo | Oromandibular-limb hypogenesis syndrome | | | -| MONDO:0867549 | orofaciodigital syndrome type 11 | GARD:4118 | MONDO:equivalentTo | Orofaciodigital syndrome type 11 | | | -| MONDO:0867550 | x-linked intellectual disability, shashi type | GARD:4119 | MONDO:equivalentTo | X-linked intellectual disability, Shashi type | | | -| MONDO:0867551 | cheilitis glandularis | GARD:412 | MONDO:equivalentTo | Cheilitis glandularis | | | -| MONDO:0867552 | orofaciodigital syndrome type 5 | GARD:4120 | MONDO:equivalentTo | Orofaciodigital syndrome type 5 | | | -| MONDO:0867553 | orofaciodigital syndrome type 1 | GARD:4121 | MONDO:equivalentTo | Orofaciodigital syndrome type 1 | | | -| MONDO:0867554 | oslam syndrome | GARD:4129 | MONDO:equivalentTo | OSLAM syndrome | | | -| MONDO:0867555 | geroderma osteodysplastica | GARD:413 | MONDO:equivalentTo | Geroderma osteodysplastica | | | -| MONDO:0867556 | otospondylomegaepiphyseal dysplasia | GARD:4130 | MONDO:equivalentTo | Otospondylomegaepiphyseal dysplasia | | | -| MONDO:0867557 | thiemann disease, familial form | GARD:4131 | MONDO:equivalentTo | Thiemann disease, familial form | | | -| MONDO:0867558 | familial osteochondritis dissecans | GARD:4133 | MONDO:equivalentTo | Familial osteochondritis dissecans | | | -| MONDO:0867559 | familial osteodysplasia, anderson type | GARD:4136 | MONDO:equivalentTo | Familial osteodysplasia, Anderson type | | | -| MONDO:0867560 | congenital osteogenesis imperfecta-microcephaly-cataracts syndrome | GARD:4139 | MONDO:equivalentTo | Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome | | | -| MONDO:0867561 | bamforth-lazarus syndrome | GARD:414 | MONDO:equivalentTo | Bamforth-Lazarus syndrome | | | -| MONDO:0867562 | osteoglosphonic dysplasia | GARD:4142 | MONDO:equivalentTo | Osteoglosphonic dysplasia | | | -| MONDO:0867563 | osteopathia striata-cranial sclerosis syndrome | GARD:4148 | MONDO:equivalentTo | Osteopathia striata-cranial sclerosis syndrome | | | -| MONDO:0867564 | pseudoprogeria syndrome | GARD:415 | MONDO:equivalentTo | Pseudoprogeria syndrome | | | -| MONDO:0867565 | autosomal dominant osteopetrosis type 1 | GARD:4151 | MONDO:equivalentTo | Autosomal dominant osteopetrosis type 1 | | | -| MONDO:0867566 | osteopetrosis with renal tubular acidosis | GARD:4154 | MONDO:equivalentTo | Osteopetrosis with renal tubular acidosis | | | -| MONDO:0867567 | osteopetrosis and related disorders | GARD:4155 | MONDO:equivalentTo | Osteopetrosis and related disorders | | | -| MONDO:0867568 | intermediate osteopetrosis | GARD:4156 | MONDO:equivalentTo | Intermediate osteopetrosis | | | -| MONDO:0867569 | osteoporosis-pseudoglioma syndrome | GARD:4160 | MONDO:equivalentTo | Osteoporosis-pseudoglioma syndrome | | | -| MONDO:0867570 | foix-alajouanine syndrome | GARD:4163 | MONDO:equivalentTo | Foix-Alajouanine syndrome | | | -| MONDO:0867571 | heart defect-tongue hamartoma-polysyndactyly syndrome | GARD:4166 | MONDO:equivalentTo | Heart defect-tongue hamartoma-polysyndactyly syndrome | | | -| MONDO:0867572 | otodental syndrome | GARD:4168 | MONDO:equivalentTo | Otodental syndrome | | | -| MONDO:0867573 | otofaciocervical syndrome | GARD:4169 | MONDO:equivalentTo | Otofaciocervical syndrome | | | -| MONDO:0867574 | otoonychoperoneal syndrome | GARD:4170 | MONDO:equivalentTo | Otoonychoperoneal syndrome | | | -| MONDO:0867575 | benign paroxysmal tonic upgaze of childhood with ataxia | GARD:4176 | MONDO:equivalentTo | Benign paroxysmal tonic upgaze of childhood with ataxia | | | -| MONDO:0867576 | pentosuria | GARD:418 | MONDO:equivalentTo | Pentosuria | | | -| MONDO:0867577 | overhydrated hereditary stomatocytosis | GARD:4183 | MONDO:equivalentTo | Overhydrated hereditary stomatocytosis | | | -| MONDO:0867578 | epiphyseal stippling-osteoclastic hyperplasia syndrome | GARD:4189 | MONDO:equivalentTo | Epiphyseal stippling-osteoclastic hyperplasia syndrome | | | -| MONDO:0867579 | extramammary paget disease | GARD:4192 | MONDO:equivalentTo | Extramammary Paget disease | | | -| MONDO:0867580 | hydrocephaly-low insertion umbilicus syndrome | GARD:4199 | MONDO:equivalentTo | Hydrocephaly-low insertion umbilicus syndrome | | | -| MONDO:0867581 | tetrasomy 9p | GARD:42 | MONDO:equivalentTo | Tetrasomy 9p | | | -| MONDO:0867582 | partial pancreatic agenesis | GARD:4203 | MONDO:equivalentTo | Partial pancreatic agenesis | | | -| MONDO:0867583 | adenoma of pancreas | GARD:4204 | MONDO:equivalentTo | Adenoma of pancreas | | | -| MONDO:0867584 | familial pancreatic carcinoma | GARD:4206 | MONDO:equivalentTo | Familial pancreatic carcinoma | | | -| MONDO:0867585 | pancreatoblastoma | GARD:4210 | MONDO:equivalentTo | Pancreatoblastoma | | | -| MONDO:0867586 | polyostotic fibrous dysplasia | GARD:4213 | MONDO:equivalentTo | Polyostotic fibrous dysplasia | | | -| MONDO:0867587 | papilloma of choroid plexus | GARD:4214 | MONDO:equivalentTo | Papilloma of choroid plexus | | | -| MONDO:0867588 | autosomal dominant spastic paraplegia type 17 | GARD:4219 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 17 | | | -| MONDO:0867589 | parastremmatic dwarfism | GARD:4222 | MONDO:equivalentTo | Parastremmatic dwarfism | | | -| MONDO:0867590 | parc syndrome | GARD:4223 | MONDO:equivalentTo | PARC syndrome | | | -| MONDO:0867591 | paris-trousseau thrombocytopenia | GARD:4224 | MONDO:equivalentTo | Paris-Trousseau thrombocytopenia | | | -| MONDO:0867592 | idiopathic ventricular fibrillation, non brugada type | GARD:4227 | MONDO:equivalentTo | Idiopathic ventricular fibrillation, non Brugada type | | | -| MONDO:0867593 | neuralgic amyotrophy | GARD:4228 | MONDO:equivalentTo | Neuralgic amyotrophy | | | -| MONDO:0867594 | partial atrioventricular septal defect | GARD:4229 | MONDO:equivalentTo | Partial atrioventricular septal defect | | | -| MONDO:0867595 | partington syndrome | GARD:4235 | MONDO:equivalentTo | Partington syndrome | | | -| MONDO:0867596 | fetal parvovirus syndrome | GARD:4236 | MONDO:equivalentTo | Fetal parvovirus syndrome | | | -| MONDO:0867597 | blepharonasofacial malformation syndrome | GARD:4238 | MONDO:equivalentTo | Blepharonasofacial malformation syndrome | | | -| MONDO:0867598 | xk aprosencephaly syndrome | GARD:424 | MONDO:equivalentTo | XK aprosencephaly syndrome | | | -| MONDO:0867599 | tufted angioma | GARD:425 | MONDO:equivalentTo | Tufted angioma | | | -| MONDO:0867600 | pseudoleprechaunism syndrome, patterson type | GARD:4259 | MONDO:equivalentTo | Pseudoleprechaunism syndrome, Patterson type | | | -| MONDO:0867601 | patterson-stevenson-fontaine syndrome | GARD:4260 | MONDO:equivalentTo | Patterson-Stevenson-Fontaine syndrome | | | -| MONDO:0867602 | oligoarticular juvenile idiopathic arthritis | GARD:4261 | MONDO:equivalentTo | Oligoarticular juvenile idiopathic arthritis | | | -| MONDO:0867603 | peho syndrome | GARD:4264 | MONDO:equivalentTo | PEHO syndrome | | | -| MONDO:0867604 | pelizaeus-merzbacher disease | GARD:4265 | MONDO:equivalentTo | Pelizaeus-Merzbacher disease | | | -| MONDO:0867605 | pelizaeus-merzbacher-like disease due to aimp1 mutation | GARD:4266 | MONDO:equivalentTo | Pelizaeus-Merzbacher-like disease due to AIMP1 mutation | | | -| MONDO:0867606 | pelvic dysplasia-arthrogryposis of lower limbs syndrome | GARD:4269 | MONDO:equivalentTo | Pelvic dysplasia-arthrogryposis of lower limbs syndrome | | | -| MONDO:0867607 | ptosis-vocal cord paralysis syndrome | GARD:427 | MONDO:equivalentTo | Ptosis-vocal cord paralysis syndrome | | | -| MONDO:0867608 | pendred syndrome | GARD:4271 | MONDO:equivalentTo | Pendred syndrome | | | -| MONDO:0867609 | penile agenesis | GARD:4272 | MONDO:equivalentTo | Penile agenesis | | | -| MONDO:0867610 | penoscrotal transposition | GARD:4273 | MONDO:equivalentTo | Penoscrotal transposition | | | -| MONDO:0867611 | acroosteolysis-keloid-like lesions-premature aging syndrome | GARD:4276 | MONDO:equivalentTo | Acroosteolysis-keloid-like lesions-premature aging syndrome | | | -| MONDO:0867612 | craniofrontonasal dysplasia-poland anomaly syndrome | GARD:428 | MONDO:equivalentTo | Craniofrontonasal dysplasia-Poland anomaly syndrome | | | -| MONDO:0867613 | constriction rings syndrome | GARD:429 | MONDO:equivalentTo | Constriction rings syndrome | | | -| MONDO:0867614 | autosomal recessive distal osteolysis syndrome | GARD:4299 | MONDO:equivalentTo | Autosomal recessive distal osteolysis syndrome | | | -| MONDO:0867615 | mosaic trisomy 9 | GARD:43 | MONDO:equivalentTo | Mosaic trisomy 9 | | | -| MONDO:0867616 | mesomelia-synostoses syndrome | GARD:4302 | MONDO:equivalentTo | Mesomelia-synostoses syndrome | | | -| MONDO:0867617 | deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome | GARD:4303 | MONDO:equivalentTo | Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome | | | -| MONDO:0867618 | preaxial polydactyly-colobomata-intellectual disability syndrome | GARD:4304 | MONDO:equivalentTo | Preaxial polydactyly-colobomata-intellectual disability syndrome | | | -| MONDO:0867619 | pfeiffer-palm-teller syndrome | GARD:4305 | MONDO:equivalentTo | Pfeiffer-Palm-Teller syndrome | | | -| MONDO:0867620 | microtia | GARD:431 | MONDO:equivalentTo | Microtia | | | -| MONDO:0867621 | phakomatosis pigmentokeratotica | GARD:4311 | MONDO:equivalentTo | Phakomatosis pigmentokeratotica | | | -| MONDO:0867622 | phakomatosis pigmentovascularis | GARD:4312 | MONDO:equivalentTo | Phakomatosis pigmentovascularis | | | -| MONDO:0867623 | phenobarbital embryopathy | GARD:4315 | MONDO:equivalentTo | Phenobarbital embryopathy | | | -| MONDO:0867624 | dihydropteridine reductase deficiency | GARD:4319 | MONDO:equivalentTo | Dihydropteridine reductase deficiency | | | -| MONDO:0867625 | phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome | GARD:4323 | MONDO:equivalentTo | Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome | | | -| MONDO:0867626 | pgm1-cdg | GARD:4329 | MONDO:equivalentTo | PGM1-CDG | | | -| MONDO:0867627 | apparent mineralocorticoid excess | GARD:433 | MONDO:equivalentTo | Apparent mineralocorticoid excess | | | -| MONDO:0867628 | pgm3-cdg | GARD:4331 | MONDO:equivalentTo | PGM3-CDG | | | -| MONDO:0867629 | phosphoribosylpyrophosphate synthetase superactivity | GARD:4337 | MONDO:equivalentTo | Phosphoribosylpyrophosphate synthetase superactivity | | | -| MONDO:0867630 | hydrocephalus with stenosis of the aqueduct of sylvius | GARD:434 | MONDO:equivalentTo | Hydrocephalus with stenosis of the aqueduct of Sylvius | | | -| MONDO:0867631 | piebaldism | GARD:4344 | MONDO:equivalentTo | Piebaldism | | | -| MONDO:0867632 | autosomal dominant cerebellar ataxia | GARD:4346 | MONDO:equivalentTo | Autosomal dominant cerebellar ataxia | | | -| MONDO:0867633 | isolated pierre robin syndrome | GARD:4347 | MONDO:equivalentTo | Isolated Pierre Robin syndrome | | | -| MONDO:0867634 | cleft lip-retinopathy syndrome | GARD:435 | MONDO:equivalentTo | Cleft lip-retinopathy syndrome | | | -| MONDO:0867635 | late-onset retinal degeneration | GARD:4357 | MONDO:equivalentTo | Late-onset retinal degeneration | | | -| MONDO:0867636 | severe combined immunodeficiency due to foxn1 deficiency | GARD:4358 | MONDO:equivalentTo | Severe combined immunodeficiency due to FOXN1 deficiency | | | -| MONDO:0867637 | ringed hair disease | GARD:4359 | MONDO:equivalentTo | Ringed hair disease | | | -| MONDO:0867638 | adult-onset still disease | GARD:436 | MONDO:equivalentTo | Adult-onset Still disease | | | -| MONDO:0867639 | pili torti | GARD:4361 | MONDO:equivalentTo | Pili torti | | | -| MONDO:0867640 | pili torti-developmental delay-neurological abnormalities syndrome | GARD:4362 | MONDO:equivalentTo | Pili torti-developmental delay-neurological abnormalities syndrome | | | -| MONDO:0867641 | pili torti-onychodysplasia syndrome | GARD:4364 | MONDO:equivalentTo | Pili torti-onychodysplasia syndrome | | | -| MONDO:0867642 | ophthalmomandibulomelic dysplasia | GARD:4365 | MONDO:equivalentTo | Ophthalmomandibulomelic dysplasia | | | -| MONDO:0867643 | trichodermodysplasia-dental alterations syndrome | GARD:4369 | MONDO:equivalentTo | Trichodermodysplasia-dental alterations syndrome | | | -| MONDO:0867644 | pitt-hopkins syndrome | GARD:4372 | MONDO:equivalentTo | Pitt-Hopkins syndrome | | | -| MONDO:0867645 | thumb stiffness-brachydactyly-intellectual disability syndrome | GARD:4375 | MONDO:equivalentTo | Thumb stiffness-brachydactyly-intellectual disability syndrome | | | -| MONDO:0867646 | alpha-sarcoglycan-related limb-girdle muscular dystrophy r3 | GARD:438 | MONDO:equivalentTo | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | | | -| MONDO:0867647 | hypoplasminogenemia | GARD:4380 | MONDO:equivalentTo | Hypoplasminogenemia | | | -| MONDO:0867648 | congenital plasminogen activator inhibitor type 1 deficiency | GARD:4381 | MONDO:equivalentTo | Congenital plasminogen activator inhibitor type 1 deficiency | | | -| MONDO:0867649 | platyspondylic dysplasia, torrance type | GARD:4382 | MONDO:equivalentTo | Platyspondylic dysplasia, Torrance type | | | -| MONDO:0867650 | pneumocystosis | GARD:4386 | MONDO:equivalentTo | Pneumocystosis | | | -| MONDO:0867651 | kindler epidermolysis bullosa | GARD:4391 | MONDO:equivalentTo | Kindler epidermolysis bullosa | | | -| MONDO:0867652 | rothmund-thomson syndrome | GARD:4392 | MONDO:equivalentTo | Rothmund-Thomson syndrome | | | -| MONDO:0867653 | haim-munk syndrome | GARD:44 | MONDO:equivalentTo | Haim-Munk syndrome | | | -| MONDO:0867654 | non-syndromic polydactyly | GARD:4410 | MONDO:equivalentTo | Non-syndromic polydactyly | | | -| MONDO:0867655 | orofaciodigital syndrome type 6 | GARD:4412 | MONDO:equivalentTo | Orofaciodigital syndrome type 6 | | | -| MONDO:0867656 | polydactyly-myopia syndrome | GARD:4413 | MONDO:equivalentTo | Polydactyly-myopia syndrome | | | -| MONDO:0867657 | polydactyly of a biphalangeal thumb | GARD:4417 | MONDO:equivalentTo | Polydactyly of a biphalangeal thumb | | | -| MONDO:0867658 | catecholaminergic polymorphic ventricular tachycardia | GARD:4421 | MONDO:equivalentTo | Catecholaminergic polymorphic ventricular tachycardia | | | -| MONDO:0867659 | polyneuropathy-intellectual disability-acromicria-premature menopause syndrome | GARD:4424 | MONDO:equivalentTo | Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome | | | -| MONDO:0867660 | cronkhite-canada syndrome | GARD:4427 | MONDO:equivalentTo | Cronkhite-Canada syndrome | | | -| MONDO:0867661 | polysyndactyly-cardiac malformation syndrome | GARD:4428 | MONDO:equivalentTo | Polysyndactyly-cardiac malformation syndrome | | | -| MONDO:0867662 | syndactyly type 4 | GARD:4434 | MONDO:equivalentTo | Syndactyly type 4 | | | -| MONDO:0867663 | bartsocas-papas syndrome | GARD:4436 | MONDO:equivalentTo | Bartsocas-Papas syndrome | | | -| MONDO:0867664 | porencephaly-cerebellar hypoplasia-internal malformations syndrome | GARD:4437 | MONDO:equivalentTo | Porencephaly-cerebellar hypoplasia-internal malformations syndrome | | | -| MONDO:0867665 | porokeratosis of mibelli | GARD:4438 | MONDO:equivalentTo | Porokeratosis of Mibelli | | | -| MONDO:0867666 | punctate palmoplantar keratoderma type 2 | GARD:4439 | MONDO:equivalentTo | Punctate palmoplantar keratoderma type 2 | | | -| MONDO:0867667 | congenital erythropoietic porphyria | GARD:4446 | MONDO:equivalentTo | Congenital erythropoietic porphyria | | | -| MONDO:0867668 | postpoliomyelitis syndrome | GARD:4454 | MONDO:equivalentTo | Postpoliomyelitis syndrome | | | -| MONDO:0867669 | posterior uveitis | GARD:4457 | MONDO:equivalentTo | Posterior uveitis | | | -| MONDO:0867670 | potassium-aggravated myotonia | GARD:4459 | MONDO:equivalentTo | Potassium-aggravated myotonia | | | -| MONDO:0867671 | phaver syndrome | GARD:4465 | MONDO:equivalentTo | PHAVER syndrome | | | -| MONDO:0867672 | guttmacher syndrome | GARD:4470 | MONDO:equivalentTo | Guttmacher syndrome | | | -| MONDO:0867673 | familial male-limited precocious puberty | GARD:4475 | MONDO:equivalentTo | Familial male-limited precocious puberty | | | -| MONDO:0867674 | congenital prekallikrein deficiency | GARD:4477 | MONDO:equivalentTo | Congenital prekallikrein deficiency | | | -| MONDO:0867675 | vici syndrome | GARD:448 | MONDO:equivalentTo | Vici syndrome | | | -| MONDO:0867676 | x-linked intellectual disability-dysmorphism-cerebral atrophy syndrome | GARD:4482 | MONDO:equivalentTo | X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome | | | -| MONDO:0867677 | griscelli syndrome type 2 | GARD:4483 | MONDO:equivalentTo | Griscelli syndrome type 2 | | | -| MONDO:0867678 | primary ciliary dyskinesia | GARD:4484 | MONDO:equivalentTo | Primary ciliary dyskinesia | | | -| MONDO:0867679 | juvenile primary lateral sclerosis | GARD:4485 | MONDO:equivalentTo | Juvenile primary lateral sclerosis | | | -| MONDO:0867680 | intellectual disability-cataracts-calcified pinnae-myopathy syndrome | GARD:4488 | MONDO:equivalentTo | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | | | -| MONDO:0867681 | progeria-short stature-pigmented nevi syndrome | GARD:4494 | MONDO:equivalentTo | Progeria-short stature-pigmented nevi syndrome | | | -| MONDO:0867682 | progeroid syndrome, petty type | GARD:4497 | MONDO:equivalentTo | Progeroid syndrome, Petty type | | | -| MONDO:0867683 | congenital varicella syndrome | GARD:45 | MONDO:equivalentTo | Congenital varicella syndrome | | | -| MONDO:0867684 | acromelanosis | GARD:4500 | MONDO:equivalentTo | Acromelanosis | | | -| MONDO:0867685 | progressive external ophthalmoplegia | GARD:4503 | MONDO:equivalentTo | Progressive external ophthalmoplegia | | | -| MONDO:0867686 | atypical progressive supranuclear palsy syndrome | GARD:4507 | MONDO:equivalentTo | Atypical progressive supranuclear palsy syndrome | | | -| MONDO:0867687 | prolactinoma | GARD:4508 | MONDO:equivalentTo | Prolactinoma | | | -| MONDO:0867688 | proliferating trichilemmal cyst | GARD:4509 | MONDO:equivalentTo | Proliferating trichilemmal cyst | | | -| MONDO:0867689 | properdin deficiency | GARD:4513 | MONDO:equivalentTo | Properdin deficiency | | | -| MONDO:0867690 | aprosencephaly cerebellar dysgenesis | GARD:4518 | MONDO:equivalentTo | Aprosencephaly cerebellar dysgenesis | | | -| MONDO:0867691 | familial prostate cancer | GARD:4520 | MONDO:equivalentTo | Familial prostate cancer | | | -| MONDO:0867692 | transcobalamin i deficiency | GARD:4522 | MONDO:equivalentTo | Transcobalamin I deficiency | | | -| MONDO:0867693 | autosomal erythropoietic protoporphyria | GARD:4527 | MONDO:equivalentTo | Autosomal erythropoietic protoporphyria | | | -| MONDO:0867694 | corpus callosum agenesis-abnormal genitalia syndrome | GARD:4528 | MONDO:equivalentTo | Corpus callosum agenesis-abnormal genitalia syndrome | | | -| MONDO:0867695 | acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome | GARD:453 | MONDO:equivalentTo | Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome | | | -| MONDO:0867696 | proximal spinal muscular atrophy | GARD:4531 | MONDO:equivalentTo | Proximal spinal muscular atrophy | | | -| MONDO:0867697 | pseudopelade of brocq | GARD:4536 | MONDO:equivalentTo | Pseudopelade of Brocq | | | -| MONDO:0867698 | bifunctional enzyme deficiency | GARD:4539 | MONDO:equivalentTo | Bifunctional enzyme deficiency | | | -| MONDO:0867699 | accessory pancreas | GARD:454 | MONDO:equivalentTo | Accessory pancreas | | | -| MONDO:0867700 | pseudoachondroplasia | GARD:4540 | MONDO:equivalentTo | Pseudoachondroplasia | | | -| MONDO:0867701 | peroxisomal acyl-coa oxidase deficiency | GARD:4543 | MONDO:equivalentTo | Peroxisomal acyl-CoA oxidase deficiency | | | -| MONDO:0867702 | pseudoaminopterin syndrome | GARD:4544 | MONDO:equivalentTo | Pseudoaminopterin syndrome | | | -| MONDO:0867703 | disorder of sex development-intellectual disability syndrome | GARD:4550 | MONDO:equivalentTo | Disorder of sex development-intellectual disability syndrome | | | -| MONDO:0867704 | generalized pseudohypoaldosteronism type 1 | GARD:4552 | MONDO:equivalentTo | Generalized pseudohypoaldosteronism type 1 | | | -| MONDO:0867705 | pseudohypoaldosteronism type 2 | GARD:4553 | MONDO:equivalentTo | Pseudohypoaldosteronism type 2 | | | -| MONDO:0867706 | acrootoocular syndrome | GARD:4559 | MONDO:equivalentTo | Acrootoocular syndrome | | | -| MONDO:0867707 | achalasia-microcephaly syndrome | GARD:456 | MONDO:equivalentTo | Achalasia-microcephaly syndrome | | | -| MONDO:0867708 | idiopathic intracranial hypertension | GARD:4561 | MONDO:equivalentTo | Idiopathic intracranial hypertension | | | -| MONDO:0867709 | pterygium colli-intellectual disability-digital anomalies syndrome | GARD:4568 | MONDO:equivalentTo | Pterygium colli-intellectual disability-digital anomalies syndrome | | | -| MONDO:0867710 | familial pterygium of the conjunctiva | GARD:4569 | MONDO:equivalentTo | Familial pterygium of the conjunctiva | | | -| MONDO:0867711 | triple a syndrome | GARD:457 | MONDO:equivalentTo | Triple A syndrome | | | -| MONDO:0867712 | antecubital pterygium syndrome | GARD:4570 | MONDO:equivalentTo | Antecubital pterygium syndrome | | | -| MONDO:0867713 | x-linked lethal multiple pterygium syndrome | GARD:4573 | MONDO:equivalentTo | X-linked lethal multiple pterygium syndrome | | | -| MONDO:0867714 | ptosis-strabismus-ectopic pupils syndrome | GARD:4577 | MONDO:equivalentTo | Ptosis-strabismus-ectopic pupils syndrome | | | -| MONDO:0867715 | spondylometaphyseal dysplasia, a4 type | GARD:458 | MONDO:equivalentTo | Spondylometaphyseal dysplasia, A4 type | | | -| MONDO:0867716 | hereditary pulmonary alveolar proteinosis | GARD:4582 | MONDO:equivalentTo | Hereditary pulmonary alveolar proteinosis | | | -| MONDO:0867717 | pulmonary arteriovenous malformation | GARD:4584 | MONDO:equivalentTo | Pulmonary arteriovenous malformation | | | -| MONDO:0867718 | abnormal origin of right or left pulmonary artery from the aorta | GARD:4586 | MONDO:equivalentTo | Abnormal origin of right or left pulmonary artery from the aorta | | | -| MONDO:0867719 | pulmonary atresia with ventricular septal defect | GARD:4588 | MONDO:equivalentTo | Pulmonary atresia with ventricular septal defect | | | -| MONDO:0867720 | peripheral pulmonary stenosis | GARD:4589 | MONDO:equivalentTo | Peripheral pulmonary stenosis | | | -| MONDO:0867721 | achondrogenesis type 1a | GARD:459 | MONDO:equivalentTo | Achondrogenesis type 1A | | | -| MONDO:0867722 | congenital pulmonary sequestration | GARD:4593 | MONDO:equivalentTo | Congenital pulmonary sequestration | | | -| MONDO:0867723 | supravalvular pulmonary stenosis | GARD:4594 | MONDO:equivalentTo | Supravalvular pulmonary stenosis | | | -| MONDO:0867724 | pulmonary valve agenesis | GARD:4597 | MONDO:equivalentTo | Pulmonary valve agenesis | | | -| MONDO:0867725 | congenital pulmonary veins atresia or stenosis | GARD:4598 | MONDO:equivalentTo | Congenital pulmonary veins atresia or stenosis | | | -| MONDO:0867726 | congenital pulmonary venous return anomaly | GARD:4599 | MONDO:equivalentTo | Congenital pulmonary venous return anomaly | | | -| MONDO:0867727 | achondrogenesis type 1b | GARD:460 | MONDO:equivalentTo | Achondrogenesis type 1B | | | -| MONDO:0867728 | pulmonary atresia-intact ventricular septum syndrome | GARD:4600 | MONDO:equivalentTo | Pulmonary atresia-intact ventricular septum syndrome | | | -| MONDO:0867729 | punctate acrokeratoderma freckle-like pigmentation | GARD:4603 | MONDO:equivalentTo | Punctate acrokeratoderma freckle-like pigmentation | | | -| MONDO:0867730 | purine nucleoside phosphorylase deficiency | GARD:4606 | MONDO:equivalentTo | Purine nucleoside phosphorylase deficiency | | | -| MONDO:0867731 | immune-mediated thrombotic thrombocytopenic purpura | GARD:4607 | MONDO:equivalentTo | Immune-mediated thrombotic thrombocytopenic purpura | | | -| MONDO:0867732 | pyknoachondrogenesis | GARD:4610 | MONDO:equivalentTo | Pyknoachondrogenesis | | | -| MONDO:0867733 | pycnodysostosis | GARD:4611 | MONDO:equivalentTo | Pycnodysostosis | | | -| MONDO:0867734 | pyle disease | GARD:4612 | MONDO:equivalentTo | Pyle disease | | | -| MONDO:0867735 | pyomyositis | GARD:4614 | MONDO:equivalentTo | Pyomyositis | | | -| MONDO:0867736 | pyruvate dehydrogenase e1-alpha deficiency | GARD:4620 | MONDO:equivalentTo | Pyruvate dehydrogenase E1-alpha deficiency | | | -| MONDO:0867737 | radial ray hypoplasia-choanal atresia syndrome | GARD:4627 | MONDO:equivalentTo | Radial ray hypoplasia-choanal atresia syndrome | | | -| MONDO:0867738 | oculofaciocardiodental syndrome | GARD:4628 | MONDO:equivalentTo | Oculofaciocardiodental syndrome | | | -| MONDO:0867739 | absent radius-anogenital anomalies syndrome | GARD:4633 | MONDO:equivalentTo | Absent radius-anogenital anomalies syndrome | | | -| MONDO:0867740 | leukocyte adhesion deficiency type ii | GARD:4634 | MONDO:equivalentTo | Leukocyte adhesion deficiency type II | | | -| MONDO:0867741 | retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome | GARD:4635 | MONDO:equivalentTo | Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome | | | -| MONDO:0867742 | ramos-arroyo syndrome | GARD:4636 | MONDO:equivalentTo | Ramos-Arroyo syndrome | | | -| MONDO:0867743 | rapadilino syndrome | GARD:4637 | MONDO:equivalentTo | RAPADILINO syndrome | | | -| MONDO:0867744 | external auditory canal atresia-vertical talus-hypertelorism syndrome | GARD:4638 | MONDO:equivalentTo | External auditory canal atresia-vertical talus-hypertelorism syndrome | | | -| MONDO:0867745 | ichthyosis-intellectual disability-dwarfism-renal impairment syndrome | GARD:4641 | MONDO:equivalentTo | Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome | | | -| MONDO:0867746 | ataxia-deafness-intellectual disability syndrome | GARD:4644 | MONDO:equivalentTo | Ataxia-deafness-intellectual disability syndrome | | | -| MONDO:0867747 | complex regional pain syndrome | GARD:4647 | MONDO:equivalentTo | Complex regional pain syndrome | | | -| MONDO:0867748 | infantile refsum disease | GARD:4648 | MONDO:equivalentTo | Infantile Refsum disease | | | -| MONDO:0867749 | isovaleric acidemia | GARD:465 | MONDO:equivalentTo | Isovaleric acidemia | | | -| MONDO:0867750 | renal caliceal diverticuli-deafness syndrome | GARD:4655 | MONDO:equivalentTo | Renal caliceal diverticuli-deafness syndrome | | | -| MONDO:0867751 | nphp3-related meckel-like syndrome | GARD:4665 | MONDO:equivalentTo | NPHP3-related Meckel-like syndrome | | | -| MONDO:0867752 | autosomal recessive distal renal tubular acidosis | GARD:4666 | MONDO:equivalentTo | Autosomal recessive distal renal tubular acidosis | | | -| MONDO:0867753 | distal renal tubular acidosis | GARD:4667 | MONDO:equivalentTo | Distal renal tubular acidosis | | | -| MONDO:0867754 | autosomal dominant distal renal tubular acidosis | GARD:4668 | MONDO:equivalentTo | Autosomal dominant distal renal tubular acidosis | | | -| MONDO:0867755 | propionic acidemia | GARD:467 | MONDO:equivalentTo | Propionic acidemia | | | -| MONDO:0867756 | x-linked retinal dysplasia | GARD:4680 | MONDO:equivalentTo | X-linked retinal dysplasia | | | -| MONDO:0867757 | retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome | GARD:4683 | MONDO:equivalentTo | Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome | | | -| MONDO:0867758 | pyramidal molars-abnormal upper lip syndrome | GARD:469 | MONDO:equivalentTo | Pyramidal molars-abnormal upper lip syndrome | | | -| MONDO:0867759 | x-linked retinoschisis | GARD:4690 | MONDO:equivalentTo | X-linked retinoschisis | | | -| MONDO:0867760 | atypical rett syndrome | GARD:4694 | MONDO:equivalentTo | Atypical Rett syndrome | | | -| MONDO:0867761 | revesz syndrome | GARD:4695 | MONDO:equivalentTo | Revesz syndrome | | | -| MONDO:0867762 | reynolds syndrome | GARD:4697 | MONDO:equivalentTo | Reynolds syndrome | | | -| MONDO:0867763 | crigler-najjar syndrome type 1 | GARD:47 | MONDO:equivalentTo | Crigler-Najjar syndrome type 1 | | | -| MONDO:0867764 | alveolar rhabdomyosarcoma | GARD:4701 | MONDO:equivalentTo | Alveolar rhabdomyosarcoma | | | -| MONDO:0867765 | embryonal rhabdomyosarcoma | GARD:4702 | MONDO:equivalentTo | Embryonal rhabdomyosarcoma | | | -| MONDO:0867766 | rhizomelic dysplasia, patterson-lowry type | GARD:4703 | MONDO:equivalentTo | Rhizomelic dysplasia, Patterson-Lowry type | | | -| MONDO:0867767 | polymyalgia rheumatica | GARD:4704 | MONDO:equivalentTo | Polymyalgia rheumatica | | | -| MONDO:0867768 | rhizomelic syndrome, urbach type | GARD:4705 | MONDO:equivalentTo | Rhizomelic syndrome, Urbach type | | | -| MONDO:0867769 | richieri costa-da silva syndrome | GARD:4709 | MONDO:equivalentTo | Richieri Costa-da Silva syndrome | | | -| MONDO:0867770 | richieri costa-pereira syndrome | GARD:4718 | MONDO:equivalentTo | Richieri Costa-Pereira syndrome | | | -| MONDO:0867771 | isolated right ventricular hypoplasia | GARD:4721 | MONDO:equivalentTo | Isolated right ventricular hypoplasia | | | -| MONDO:0867772 | 8q22.1 microdeletion syndrome | GARD:4722 | MONDO:equivalentTo | 8q22.1 microdeletion syndrome | | | -| MONDO:0867773 | rigid spine syndrome | GARD:4723 | MONDO:equivalentTo | Rigid spine syndrome | | | -| MONDO:0867774 | ring chromosome 17 syndrome | GARD:4724 | MONDO:equivalentTo | Ring chromosome 17 syndrome | | | -| MONDO:0867775 | robin sequence-oligodactyly syndrome | GARD:4729 | MONDO:equivalentTo | Robin sequence-oligodactyly syndrome | | | -| MONDO:0867776 | autosomal dominant deafness-onychodystrophy syndrome | GARD:4732 | MONDO:equivalentTo | Autosomal dominant deafness-onychodystrophy syndrome | | | -| MONDO:0867777 | roch-leri mesosomatous lipomatosis | GARD:4733 | MONDO:equivalentTo | Roch-Leri mesosomatous lipomatosis | | | -| MONDO:0867778 | mayer-rokitansky-küster-hauser syndrome type 1 | GARD:4737 | MONDO:equivalentTo | Mayer-Rokitansky-Küster-Hauser syndrome type 1 | | | -| MONDO:0867779 | rombo syndrome | GARD:4738 | MONDO:equivalentTo | Rombo syndrome | | | -| MONDO:0867780 | ulna metaphyseal dysplasia syndrome | GARD:4740 | MONDO:equivalentTo | Ulna metaphyseal dysplasia syndrome | | | -| MONDO:0867781 | roussy-lévy syndrome | GARD:4741 | MONDO:equivalentTo | Roussy-Lévy syndrome | | | -| MONDO:0867782 | congenital rubella syndrome | GARD:4744 | MONDO:equivalentTo | Congenital rubella syndrome | | | -| MONDO:0867783 | ruvalcaba syndrome | GARD:4748 | MONDO:equivalentTo | Ruvalcaba syndrome | | | -| MONDO:0867784 | acquired prothrombin deficiency | GARD:475 | MONDO:equivalentTo | Acquired prothrombin deficiency | | | -| MONDO:0867785 | kousseff syndrome | GARD:4752 | MONDO:equivalentTo | Kousseff syndrome | | | -| MONDO:0867786 | salla disease | GARD:4754 | MONDO:equivalentTo | Salla disease | | | -| MONDO:0867787 | acquired ichthyosis | GARD:476 | MONDO:equivalentTo | Acquired ichthyosis | | | -| MONDO:0867788 | benign schwannoma | GARD:4767 | MONDO:equivalentTo | Benign schwannoma | | | -| MONDO:0867789 | schwannomatosis | GARD:4768 | MONDO:equivalentTo | Schwannomatosis | | | -| MONDO:0867790 | congenital muscular dystrophy, ullrich type | GARD:4769 | MONDO:equivalentTo | Congenital muscular dystrophy, Ullrich type | | | -| MONDO:0867791 | sclerosteosis | GARD:4771 | MONDO:equivalentTo | Sclerosteosis | | | -| MONDO:0867792 | succinyl-coa:3-oxoacid coa transferase deficiency | GARD:4774 | MONDO:equivalentTo | Succinyl-CoA:3-oxoacid CoA transferase deficiency | | | -| MONDO:0867793 | aarskog-scott syndrome | GARD:4775 | MONDO:equivalentTo | Aarskog-Scott syndrome | | | -| MONDO:0867794 | craniodigital-intellectual disability syndrome | GARD:4776 | MONDO:equivalentTo | Craniodigital-intellectual disability syndrome | | | -| MONDO:0867795 | scott syndrome | GARD:4777 | MONDO:equivalentTo | Scott syndrome | | | -| MONDO:0867796 | facial dysmorphism-shawl scrotum-joint laxity syndrome | GARD:4778 | MONDO:equivalentTo | Facial dysmorphism-shawl scrotum-joint laxity syndrome | | | -| MONDO:0867797 | testicular seminomatous germ cell tumor | GARD:4792 | MONDO:equivalentTo | Testicular seminomatous germ cell tumor | | | -| MONDO:0867798 | isolated cytochrome c oxidase deficiency | GARD:48 | MONDO:equivalentTo | Isolated cytochrome C oxidase deficiency | | | -| MONDO:0867799 | acro-renal-mandibular syndrome | GARD:480 | MONDO:equivalentTo | Acro-renal-mandibular syndrome | | | -| MONDO:0867800 | spontaneous periodic hypothermia | GARD:4815 | MONDO:equivalentTo | Spontaneous periodic hypothermia | | | -| MONDO:0867801 | shigellosis | GARD:4818 | MONDO:equivalentTo | Shigellosis | | | -| MONDO:0867802 | short chain acyl-coa dehydrogenase deficiency | GARD:4822 | MONDO:equivalentTo | Short chain acyl-CoA dehydrogenase deficiency | | | -| MONDO:0867803 | short rib-polydactyly syndrome, beemer-langer type | GARD:4832 | MONDO:equivalentTo | Short rib-polydactyly syndrome, Beemer-Langer type | | | -| MONDO:0867804 | short rib-polydactyly syndrome, majewski type | GARD:4833 | MONDO:equivalentTo | Short rib-polydactyly syndrome, Majewski type | | | -| MONDO:0867805 | short rib-polydactyly syndrome, saldino-noonan type | GARD:4834 | MONDO:equivalentTo | Short rib-polydactyly syndrome, Saldino-Noonan type | | | -| MONDO:0867806 | short rib-polydactyly syndrome, verma-naumoff type | GARD:4835 | MONDO:equivalentTo | Short rib-polydactyly syndrome, Verma-Naumoff type | | | -| MONDO:0867807 | short stature, brussels type | GARD:4838 | MONDO:equivalentTo | Short stature, Brussels type | | | -| MONDO:0867808 | acrofrontofacionasal dysostosis | GARD:484 | MONDO:equivalentTo | Acrofrontofacionasal dysostosis | | | -| MONDO:0867809 | short stature-deafness-neutrophil dysfunction-dysmorphism syndrome | GARD:4841 | MONDO:equivalentTo | Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome | | | -| MONDO:0867810 | short stature-wormian bones-dextrocardia syndrome | GARD:4856 | MONDO:equivalentTo | Short stature-wormian bones-dextrocardia syndrome | | | -| MONDO:0867811 | shprintzen-goldberg syndrome | GARD:4861 | MONDO:equivalentTo | Shprintzen-Goldberg syndrome | | | -| MONDO:0867812 | shwachman-diamond syndrome | GARD:4863 | MONDO:equivalentTo | Shwachman-Diamond syndrome | | | -| MONDO:0867813 | sialuria | GARD:4865 | MONDO:equivalentTo | Sialuria | | | -| MONDO:0867814 | siegler-brewer-carey syndrome | GARD:4867 | MONDO:equivalentTo | Siegler-Brewer-Carey syndrome | | | -| MONDO:0867815 | sillence syndrome | GARD:4869 | MONDO:equivalentTo | Sillence syndrome | | | -| MONDO:0867816 | silver-russell syndrome | GARD:4870 | MONDO:equivalentTo | Silver-Russell syndrome | | | -| MONDO:0867817 | flat face-microstomia-ear anomaly syndrome | GARD:4873 | MONDO:equivalentTo | Flat face-microstomia-ear anomaly syndrome | | | -| MONDO:0867818 | multiple endocrine neoplasia type 2a | GARD:4881 | MONDO:equivalentTo | Multiple endocrine neoplasia type 2A | | | -| MONDO:0867819 | situs inversus totalis | GARD:4883 | MONDO:equivalentTo | Situs inversus totalis | | | -| MONDO:0867820 | mononen-karnes-senac syndrome | GARD:4886 | MONDO:equivalentTo | Mononen-Karnes-Senac syndrome | | | -| MONDO:0867821 | leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | GARD:4891 | MONDO:equivalentTo | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | | | -| MONDO:0867822 | soft tissue sarcoma | GARD:4898 | MONDO:equivalentTo | Soft tissue sarcoma | | | -| MONDO:0867823 | male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome | GARD:4899 | MONDO:equivalentTo | Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome | | | -| MONDO:0867824 | de barsy syndrome | GARD:49 | MONDO:equivalentTo | De Barsy syndrome | | | -| MONDO:0867825 | somatostatinoma | GARD:4900 | MONDO:equivalentTo | Somatostatinoma | | | -| MONDO:0867826 | congenital heart defect-round face-developmental delay syndrome | GARD:4905 | MONDO:equivalentTo | Congenital heart defect-round face-developmental delay syndrome | | | -| MONDO:0867827 | acrodysplasia scoliosis | GARD:491 | MONDO:equivalentTo | Acrodysplasia scoliosis | | | -| MONDO:0867828 | autosomal recessive spastic ataxia of charlevoix-saguenay | GARD:4910 | MONDO:equivalentTo | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | -| MONDO:0867829 | infantile-onset ascending hereditary spastic paralysis | GARD:4914 | MONDO:equivalentTo | Infantile-onset ascending hereditary spastic paralysis | | | -| MONDO:0867830 | spastic paraplegia-precocious puberty syndrome | GARD:4918 | MONDO:equivalentTo | Spastic paraplegia-precocious puberty syndrome | | | -| MONDO:0867831 | autosomal recessive spastic paraplegia type 11 | GARD:4919 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 11 | | | -| MONDO:0867832 | spastic paraplegia-neuropathy-poikiloderma syndrome | GARD:4921 | MONDO:equivalentTo | Spastic paraplegia-neuropathy-poikiloderma syndrome | | | -| MONDO:0867833 | autosomal recessive spastic paraplegia type 18 | GARD:4922 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 18 | | | -| MONDO:0867834 | spastic paraplegia type 2 | GARD:4923 | MONDO:equivalentTo | Spastic paraplegia type 2 | | | -| MONDO:0867835 | autosomal recessive spastic paraplegia type 39 | GARD:4924 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 39 | | | -| MONDO:0867836 | autosomal dominant spastic paraplegia type 4 | GARD:4925 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 4 | | | -| MONDO:0867837 | autosomal recessive spastic paraplegia type 5a | GARD:4926 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 5A | | | -| MONDO:0867838 | spastic paraplegia type 7 | GARD:4927 | MONDO:equivalentTo | Spastic paraplegia type 7 | | | -| MONDO:0867839 | autosomal dominant spastic paraplegia type 6 | GARD:4928 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 6 | | | -| MONDO:0867840 | spastic paraplegia-glaucoma-intellectual disability syndrome | GARD:4931 | MONDO:equivalentTo | Spastic paraplegia-glaucoma-intellectual disability syndrome | | | -| MONDO:0867841 | spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome | GARD:4932 | MONDO:equivalentTo | Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome | | | -| MONDO:0867842 | weill-marchesani syndrome | GARD:4936 | MONDO:equivalentTo | Weill-Marchesani syndrome | | | -| MONDO:0867843 | juvenile neuronal ceroid lipofuscinosis | GARD:4938 | MONDO:equivalentTo | Juvenile neuronal ceroid lipofuscinosis | | | -| MONDO:0867844 | acrofacial dysostosis, catania type | GARD:494 | MONDO:equivalentTo | Acrofacial dysostosis, Catania type | | | -| MONDO:0867845 | spina bifida-hypospadias syndrome | GARD:4940 | MONDO:equivalentTo | Spina bifida-hypospadias syndrome | | | -| MONDO:0867846 | spinal atrophy-ophthalmoplegia-pyramidal syndrome | GARD:4942 | MONDO:equivalentTo | Spinal atrophy-ophthalmoplegia-pyramidal syndrome | | | -| MONDO:0867847 | proximal spinal muscular atrophy type 2 | GARD:4945 | MONDO:equivalentTo | Proximal spinal muscular atrophy type 2 | | | -| MONDO:0867848 | spinocerebellar ataxia type 30 | GARD:4950 | MONDO:equivalentTo | Spinocerebellar ataxia type 30 | | | -| MONDO:0867849 | autosomal recessive cerebellar ataxia-movement disorder syndrome | GARD:4952 | MONDO:equivalentTo | Autosomal recessive cerebellar ataxia-movement disorder syndrome | | | -| MONDO:0867850 | spinocerebellar ataxia type 5 | GARD:4953 | MONDO:equivalentTo | Spinocerebellar ataxia type 5 | | | -| MONDO:0867851 | infantile-onset autosomal recessive nonprogressive cerebellar ataxia | GARD:4954 | MONDO:equivalentTo | Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | | | -| MONDO:0867852 | spinocerebellar ataxia type 7 | GARD:4955 | MONDO:equivalentTo | Spinocerebellar ataxia type 7 | | | -| MONDO:0867853 | spinocerebellar ataxia type 8 | GARD:4956 | MONDO:equivalentTo | Spinocerebellar ataxia type 8 | | | -| MONDO:0867854 | spinocerebellar ataxia-dysmorphism syndrome | GARD:4958 | MONDO:equivalentTo | Spinocerebellar ataxia-dysmorphism syndrome | | | -| MONDO:0867855 | acrofacial dysostosis, rodríguez type | GARD:496 | MONDO:equivalentTo | Acrofacial dysostosis, Rodríguez type | | | -| MONDO:0867856 | splenogonadal fusion-limb defects-micrognathia syndrome | GARD:4963 | MONDO:equivalentTo | Splenogonadal fusion-limb defects-micrognathia syndrome | | | -| MONDO:0867857 | karsch-neugebauer syndrome | GARD:4967 | MONDO:equivalentTo | Karsch-Neugebauer syndrome | | | -| MONDO:0867858 | czeizel-losonci syndrome | GARD:4969 | MONDO:equivalentTo | Czeizel-Losonci syndrome | | | -| MONDO:0867859 | acrofacial dysostosis, weyers type | GARD:497 | MONDO:equivalentTo | Acrofacial dysostosis, Weyers type | | | -| MONDO:0867860 | sponastrime dysplasia | GARD:4970 | MONDO:equivalentTo | SPONASTRIME dysplasia | | | -| MONDO:0867861 | spondylocamptodactyly syndrome | GARD:4972 | MONDO:equivalentTo | Spondylocamptodactyly syndrome | | | -| MONDO:0867862 | spondylocarpotarsal synostosis | GARD:4974 | MONDO:equivalentTo | Spondylocarpotarsal synostosis | | | -| MONDO:0867863 | spondyloenchondrodysplasia | GARD:4978 | MONDO:equivalentTo | Spondyloenchondrodysplasia | | | -| MONDO:0867864 | x-linked spondyloepimetaphyseal dysplasia | GARD:4979 | MONDO:equivalentTo | X-linked spondyloepimetaphyseal dysplasia | | | -| MONDO:0867865 | nager syndrome | GARD:498 | MONDO:equivalentTo | Nager syndrome | | | -| MONDO:0867866 | spondyloepimetaphyseal dysplasia, shohat type | GARD:4980 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia, Shohat type | | | -| MONDO:0867867 | spondyloepimetaphyseal dysplasia with joint laxity | GARD:4982 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia with joint laxity | | | -| MONDO:0867868 | schimke immuno-osseous dysplasia | GARD:4984 | MONDO:equivalentTo | Schimke immuno-osseous dysplasia | | | -| MONDO:0867869 | spondyloepiphyseal dysplasia congenita | GARD:4987 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia congenita | | | -| MONDO:0867870 | acrofacial dysostosis, palagonia type | GARD:499 | MONDO:equivalentTo | Acrofacial dysostosis, Palagonia type | | | -| MONDO:0867871 | spondylometaphyseal dysplasia, 'corner fracture' type | GARD:4991 | MONDO:equivalentTo | Spondylometaphyseal dysplasia, 'corner fracture' type | | | -| MONDO:0867872 | spondylometaphyseal dysplasia, sedaghatian type | GARD:4993 | MONDO:equivalentTo | Spondylometaphyseal dysplasia, Sedaghatian type | | | -| MONDO:0867873 | spondyloperipheral dysplasia-short ulna syndrome | GARD:4994 | MONDO:equivalentTo | Spondyloperipheral dysplasia-short ulna syndrome | | | -| MONDO:0867874 | familial spontaneous pneumothorax | GARD:4997 | MONDO:equivalentTo | Familial spontaneous pneumothorax | | | -| MONDO:0867875 | abetalipoproteinemia | GARD:5 | MONDO:equivalentTo | Abetalipoproteinemia | | | -| MONDO:0867876 | sebocystomatosis | GARD:5003 | MONDO:equivalentTo | Sebocystomatosis | | | -| MONDO:0867877 | steatocystoma multiplex-natal teeth syndrome | GARD:5004 | MONDO:equivalentTo | Steatocystoma multiplex-natal teeth syndrome | | | -| MONDO:0867878 | sternal cleft | GARD:5012 | MONDO:equivalentTo | Sternal cleft | | | -| MONDO:0867879 | steroid dehydrogenase deficiency-dental anomalies syndrome | GARD:5015 | MONDO:equivalentTo | Steroid dehydrogenase deficiency-dental anomalies syndrome | | | -| MONDO:0867880 | stickler syndrome type 1 | GARD:5018 | MONDO:equivalentTo | Stickler syndrome type 1 | | | -| MONDO:0867881 | stickler syndrome type 2 | GARD:5020 | MONDO:equivalentTo | Stickler syndrome type 2 | | | -| MONDO:0867882 | autosomal dominant otospondylomegaepiphyseal dysplasia | GARD:5021 | MONDO:equivalentTo | Autosomal dominant otospondylomegaepiphyseal dysplasia | | | -| MONDO:0867883 | stiff person spectrum disorder | GARD:5023 | MONDO:equivalentTo | Stiff person spectrum disorder | | | -| MONDO:0867884 | stiff skin syndrome | GARD:5025 | MONDO:equivalentTo | Stiff skin syndrome | | | -| MONDO:0867885 | stimmler syndrome | GARD:5026 | MONDO:equivalentTo | Stimmler syndrome | | | -| MONDO:0867886 | non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome | GARD:5027 | MONDO:equivalentTo | Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome | | | -| MONDO:0867887 | arthrogryposis-ectodermal dysplasia syndrome | GARD:5029 | MONDO:equivalentTo | Arthrogryposis-ectodermal dysplasia syndrome | | | -| MONDO:0867888 | alpha delta granule deficiency | GARD:5034 | MONDO:equivalentTo | Alpha delta granule deficiency | | | -| MONDO:0867889 | brachydactyly-mesomelia-intellectual disability-heart defects syndrome | GARD:5036 | MONDO:equivalentTo | Brachydactyly-mesomelia-intellectual disability-heart defects syndrome | | | -| MONDO:0867890 | spondylometaphyseal dysplasia, schmidt type | GARD:504 | MONDO:equivalentTo | Spondylometaphyseal dysplasia, Schmidt type | | | -| MONDO:0867891 | infantile bilateral striatal necrosis | GARD:5040 | MONDO:equivalentTo | Infantile bilateral striatal necrosis | | | -| MONDO:0867892 | autosomal dominant spastic paraplegia type 3 | GARD:5041 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 3 | | | -| MONDO:0867893 | stüve-wiedemann syndrome | GARD:5045 | MONDO:equivalentTo | Stüve-Wiedemann syndrome | | | -| MONDO:0867894 | classic lissencephaly | GARD:5049 | MONDO:equivalentTo | Classic lissencephaly | | | -| MONDO:0867895 | subependymal nodular heterotopia | GARD:5050 | MONDO:equivalentTo | Subependymal nodular heterotopia | | | -| MONDO:0867896 | subpulmonary stenosis | GARD:5051 | MONDO:equivalentTo | Subpulmonary stenosis | | | -| MONDO:0867897 | isolated succinate-coq reductase deficiency | GARD:5053 | MONDO:equivalentTo | Isolated succinate-CoQ reductase deficiency | | | -| MONDO:0867898 | sugarman brachydactyly | GARD:5058 | MONDO:equivalentTo | Sugarman brachydactyly | | | -| MONDO:0867899 | acromesomelic dysplasia, hunter-thompson type | GARD:506 | MONDO:equivalentTo | Acromesomelic dysplasia, Hunter-Thompson type | | | -| MONDO:0867900 | multiple sulfatase deficiency | GARD:5061 | MONDO:equivalentTo | Multiple sulfatase deficiency | | | -| MONDO:0867901 | isolated sulfite oxidase deficiency | GARD:5062 | MONDO:equivalentTo | Isolated sulfite oxidase deficiency | | | -| MONDO:0867902 | microphthalmia-ankyloblepharon-intellectual disability syndrome | GARD:5066 | MONDO:equivalentTo | Microphthalmia-ankyloblepharon-intellectual disability syndrome | | | -| MONDO:0867903 | 46,xy complete gonadal dysgenesis | GARD:5068 | MONDO:equivalentTo | 46,XY complete gonadal dysgenesis | | | -| MONDO:0867904 | acromesomelic dysplasia, maroteaux type | GARD:507 | MONDO:equivalentTo | Acromesomelic dysplasia, Maroteaux type | | | -| MONDO:0867905 | symmetrical thalamic calcifications | GARD:5070 | MONDO:equivalentTo | Symmetrical thalamic calcifications | | | -| MONDO:0867906 | distal symphalangism | GARD:5074 | MONDO:equivalentTo | Distal symphalangism | | | -| MONDO:0867907 | symphalangism with multiple anomalies of hands and feet | GARD:5077 | MONDO:equivalentTo | Symphalangism with multiple anomalies of hands and feet | | | -| MONDO:0867908 | hajdu-cheney syndrome | GARD:508 | MONDO:equivalentTo | Hajdu-Cheney syndrome | | | -| MONDO:0867909 | syndactyly type 1 | GARD:5081 | MONDO:equivalentTo | Syndactyly type 1 | | | -| MONDO:0867910 | cenani-lenz syndrome | GARD:5084 | MONDO:equivalentTo | Cenani-Lenz syndrome | | | -| MONDO:0867911 | syndactyly type 2 | GARD:5087 | MONDO:equivalentTo | Syndactyly type 2 | | | -| MONDO:0867912 | syndactyly type 3 | GARD:5088 | MONDO:equivalentTo | Syndactyly type 3 | | | -| MONDO:0867913 | syndactyly type 5 | GARD:5089 | MONDO:equivalentTo | Syndactyly type 5 | | | -| MONDO:0867914 | syndactyly-polydactyly-ear lobe syndrome | GARD:5090 | MONDO:equivalentTo | Syndactyly-polydactyly-ear lobe syndrome | | | -| MONDO:0867915 | syngnathia-cleft palate syndrome | GARD:5091 | MONDO:equivalentTo | Syngnathia-cleft palate syndrome | | | -| MONDO:0867916 | dobrow syndrome | GARD:5092 | MONDO:equivalentTo | Dobrow syndrome | | | -| MONDO:0867917 | syringocystadenoma papilliferum | GARD:5100 | MONDO:equivalentTo | Syringocystadenoma papilliferum | | | -| MONDO:0867918 | systemic primary carnitine deficiency | GARD:5104 | MONDO:equivalentTo | Systemic primary carnitine deficiency | | | -| MONDO:0867919 | thrombocytopenia-absent radius syndrome | GARD:5116 | MONDO:equivalentTo | Thrombocytopenia-absent radius syndrome | | | -| MONDO:0867920 | acropectorovertebral dysplasia | GARD:512 | MONDO:equivalentTo | Acropectorovertebral dysplasia | | | -| MONDO:0867921 | microcephalic osteodysplastic primordial dwarfism types i and iii | GARD:5120 | MONDO:equivalentTo | Microcephalic osteodysplastic primordial dwarfism types I and III | | | -| MONDO:0867922 | otopalatodigital syndrome type 1 | GARD:5121 | MONDO:equivalentTo | Otopalatodigital syndrome type 1 | | | -| MONDO:0867923 | anonychia-microcephaly syndrome | GARD:5123 | MONDO:equivalentTo | Anonychia-microcephaly syndrome | | | -| MONDO:0867924 | autosomal recessive faciodigitogenital syndrome | GARD:5124 | MONDO:equivalentTo | Autosomal recessive faciodigitogenital syndrome | | | -| MONDO:0867925 | teebi-shaltout syndrome | GARD:5125 | MONDO:equivalentTo | Teebi-Shaltout syndrome | | | -| MONDO:0867926 | trigonocephaly-bifid nose-acral anomalies syndrome | GARD:5126 | MONDO:equivalentTo | Trigonocephaly-bifid nose-acral anomalies syndrome | | | -| MONDO:0867927 | tel hashomer camptodactyly syndrome | GARD:5128 | MONDO:equivalentTo | Tel Hashomer camptodactyly syndrome | | | -| MONDO:0867928 | piebald trait-neurologic defects syndrome | GARD:5133 | MONDO:equivalentTo | Piebald trait-neurologic defects syndrome | | | -| MONDO:0867929 | familial temporal lobe epilepsy | GARD:5135 | MONDO:equivalentTo | Familial temporal lobe epilepsy | | | -| MONDO:0867930 | frank-ter haar syndrome | GARD:5138 | MONDO:equivalentTo | Frank-Ter Haar syndrome | | | -| MONDO:0867931 | acrorenal syndrome | GARD:514 | MONDO:equivalentTo | Acrorenal syndrome | | | -| MONDO:0867932 | embryonal carcinoma | GARD:5140 | MONDO:equivalentTo | Embryonal carcinoma | | | -| MONDO:0867933 | tetanus | GARD:5144 | MONDO:equivalentTo | Tetanus | | | -| MONDO:0867934 | tetra-amelia | GARD:5148 | MONDO:equivalentTo | Tetra-amelia | | | -| MONDO:0867935 | tetraploidy | GARD:5151 | MONDO:equivalentTo | Tetraploidy | | | -| MONDO:0867936 | inverted duplicated chromosome 15 syndrome | GARD:5153 | MONDO:equivalentTo | Inverted duplicated chromosome 15 syndrome | | | -| MONDO:0867937 | thakker-donnai syndrome | GARD:5158 | MONDO:equivalentTo | Thakker-Donnai syndrome | | | -| MONDO:0867938 | progressive deafness with stapes fixation | GARD:5170 | MONDO:equivalentTo | Progressive deafness with stapes fixation | | | -| MONDO:0867939 | thomas syndrome | GARD:5175 | MONDO:equivalentTo | Thomas syndrome | | | -| MONDO:0867940 | x-linked thrombocytopenia with normal platelets | GARD:5176 | MONDO:equivalentTo | X-linked thrombocytopenia with normal platelets | | | -| MONDO:0867941 | hepatic fibrosis-renal cysts-intellectual disability syndrome | GARD:5177 | MONDO:equivalentTo | Hepatic fibrosis-renal cysts-intellectual disability syndrome | | | -| MONDO:0867942 | thoracic dysplasia-hydrocephalus syndrome | GARD:5180 | MONDO:equivalentTo | Thoracic dysplasia-hydrocephalus syndrome | | | -| MONDO:0867943 | thoraco-abdominal enteric duplication | GARD:5181 | MONDO:equivalentTo | Thoraco-abdominal enteric duplication | | | -| MONDO:0867944 | thoracolaryngopelvic dysplasia | GARD:5184 | MONDO:equivalentTo | Thoracolaryngopelvic dysplasia | | | -| MONDO:0867945 | krt1-related diffuse nonepidermolytic keratoderma | GARD:5186 | MONDO:equivalentTo | KRT1-related diffuse nonepidermolytic keratoderma | | | -| MONDO:0867946 | stormorken-sjaastad-langslet syndrome | GARD:5188 | MONDO:equivalentTo | Stormorken-Sjaastad-Langslet syndrome | | | -| MONDO:0867947 | idiopathic acute eosinophilic pneumonia | GARD:519 | MONDO:equivalentTo | Idiopathic acute eosinophilic pneumonia | | | -| MONDO:0867948 | immune thrombocytopenia | GARD:5194 | MONDO:equivalentTo | Immune thrombocytopenia | | | -| MONDO:0867949 | familial thrombomodulin anomalies | GARD:5195 | MONDO:equivalentTo | Familial thrombomodulin anomalies | | | -| MONDO:0867950 | thumb deformity-alopecia-pigmentation anomaly syndrome | GARD:5199 | MONDO:equivalentTo | Thumb deformity-alopecia-pigmentation anomaly syndrome | | | -| MONDO:0867951 | thymic epithelial neoplasm | GARD:5201 | MONDO:equivalentTo | Thymic epithelial neoplasm | | | -| MONDO:0867952 | thymic-renal-anal-lung dysplasia | GARD:5202 | MONDO:equivalentTo | Thymic-renal-anal-lung dysplasia | | | -| MONDO:0867953 | familial thyroglossal duct cyst | GARD:5204 | MONDO:equivalentTo | Familial thyroglossal duct cyst | | | -| MONDO:0867954 | sweet syndrome | GARD:521 | MONDO:equivalentTo | Sweet syndrome | | | -| MONDO:0867955 | absent tibia-polydactyly-arachnoid cyst syndrome | GARD:5210 | MONDO:equivalentTo | Absent tibia-polydactyly-arachnoid cyst syndrome | | | -| MONDO:0867956 | tick-borne encephalitis | GARD:5216 | MONDO:equivalentTo | Tick-borne encephalitis | | | -| MONDO:0867957 | acute lymphoblastic leukemia | GARD:522 | MONDO:equivalentTo | Acute lymphoblastic leukemia | | | -| MONDO:0867958 | hereditary neuropathy with liability to pressure palsies | GARD:5221 | MONDO:equivalentTo | Hereditary neuropathy with liability to pressure palsies | | | -| MONDO:0867959 | toriello-carey syndrome | GARD:5225 | MONDO:equivalentTo | Toriello-Carey syndrome | | | -| MONDO:0867960 | torticollis-keloids-cryptorchidism-renal dysplasia syndrome | GARD:5230 | MONDO:equivalentTo | Torticollis-keloids-cryptorchidism-renal dysplasia syndrome | | | -| MONDO:0867961 | skin fragility-woolly hair-palmoplantar keratoderma syndrome | GARD:5231 | MONDO:equivalentTo | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | | | -| MONDO:0867962 | weismann-netter syndrome | GARD:5232 | MONDO:equivalentTo | Weismann-Netter syndrome | | | -| MONDO:0867963 | tracheal agenesis | GARD:5233 | MONDO:equivalentTo | Tracheal agenesis | | | -| MONDO:0867964 | tracheobronchopathia osteochondroplastica | GARD:5235 | MONDO:equivalentTo | Tracheobronchopathia osteochondroplastica | | | -| MONDO:0867965 | hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome | GARD:5237 | MONDO:equivalentTo | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome | | | -| MONDO:0867966 | x-linked intellectual disability-seizures-psoriasis syndrome | GARD:5238 | MONDO:equivalentTo | X-linked intellectual disability-seizures-psoriasis syndrome | | | -| MONDO:0867967 | acute megakaryoblastic leukemia | GARD:524 | MONDO:equivalentTo | Acute megakaryoblastic leukemia | | | -| MONDO:0867968 | autosomal dominant optic atrophy plus syndrome | GARD:5243 | MONDO:equivalentTo | Autosomal dominant optic atrophy plus syndrome | | | -| MONDO:0867969 | acute monoblastic/monocytic leukemia | GARD:525 | MONDO:equivalentTo | Acute monoblastic/monocytic leukemia | | | -| MONDO:0867970 | trichinellosis | GARD:5250 | MONDO:equivalentTo | Trichinellosis | | | -| MONDO:0867971 | syndromic diarrhea | GARD:5258 | MONDO:equivalentTo | Syndromic diarrhea | | | -| MONDO:0867972 | acute myeloblastic leukemia without maturation | GARD:526 | MONDO:equivalentTo | Acute myeloblastic leukemia without maturation | | | -| MONDO:0867973 | trichodysplasia-xeroderma syndrome | GARD:5261 | MONDO:equivalentTo | Trichodysplasia-xeroderma syndrome | | | -| MONDO:0867974 | trichofolliculoma | GARD:5263 | MONDO:equivalentTo | Trichofolliculoma | | | -| MONDO:0867975 | trichomegaly-retina pigmentary degeneration-dwarfism syndrome | GARD:5266 | MONDO:equivalentTo | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | | | -| MONDO:0867976 | trichoodontoonychial dysplasia | GARD:5267 | MONDO:equivalentTo | Trichoodontoonychial dysplasia | | | -| MONDO:0867977 | acute myeloblastic leukemia with maturation | GARD:527 | MONDO:equivalentTo | Acute myeloblastic leukemia with maturation | | | -| MONDO:0867978 | tricuspid atresia | GARD:5274 | MONDO:equivalentTo | Tricuspid atresia | | | -| MONDO:0867979 | baraitser-winter cerebrofrontofacial syndrome | GARD:5279 | MONDO:equivalentTo | Baraitser-Winter cerebrofrontofacial syndrome | | | -| MONDO:0867980 | triopia | GARD:5286 | MONDO:equivalentTo | Triopia | | | -| MONDO:0867981 | triose phosphate-isomerase deficiency | GARD:5287 | MONDO:equivalentTo | Triose phosphate-isomerase deficiency | | | -| MONDO:0867982 | polydactyly of a triphalangeal thumb | GARD:5289 | MONDO:equivalentTo | Polydactyly of a triphalangeal thumb | | | -| MONDO:0867983 | acute myelomonocytic leukemia | GARD:529 | MONDO:equivalentTo | Acute myelomonocytic leukemia | | | -| MONDO:0867984 | triphalangeal thumbs-brachyectrodactyly syndrome | GARD:5290 | MONDO:equivalentTo | Triphalangeal thumbs-brachyectrodactyly syndrome | | | -| MONDO:0867985 | triploidy | GARD:5295 | MONDO:equivalentTo | Triploidy | | | -| MONDO:0867986 | trisomy 10p | GARD:5299 | MONDO:equivalentTo | Trisomy 10p | | | -| MONDO:0867987 | mosaic trisomy 12 | GARD:5304 | MONDO:equivalentTo | Mosaic trisomy 12 | | | -| MONDO:0867988 | trisomy 12p | GARD:5305 | MONDO:equivalentTo | Trisomy 12p | | | -| MONDO:0867989 | mosaic trisomy 15 | GARD:5313 | MONDO:equivalentTo | Mosaic trisomy 15 | | | -| MONDO:0867990 | mosaic trisomy 17 | GARD:5317 | MONDO:equivalentTo | Mosaic trisomy 17 | | | -| MONDO:0867991 | trisomy 17p | GARD:5318 | MONDO:equivalentTo | Trisomy 17p | | | -| MONDO:0867992 | trisomy 18p | GARD:5323 | MONDO:equivalentTo | Trisomy 18p | | | -| MONDO:0867993 | mosaic trisomy 2 | GARD:5331 | MONDO:equivalentTo | Mosaic trisomy 2 | | | -| MONDO:0867994 | trisomy 20p | GARD:5333 | MONDO:equivalentTo | Trisomy 20p | | | -| MONDO:0867995 | mosaic trisomy 3 | GARD:5342 | MONDO:equivalentTo | Mosaic trisomy 3 | | | -| MONDO:0867996 | mosaic trisomy 7 | GARD:5354 | MONDO:equivalentTo | Mosaic trisomy 7 | | | -| MONDO:0867997 | mosaic trisomy 8 | GARD:5359 | MONDO:equivalentTo | Mosaic trisomy 8 | | | -| MONDO:0867998 | acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | GARD:536 | MONDO:equivalentTo | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | | | -| MONDO:0867999 | trisomy 8q | GARD:5362 | MONDO:equivalentTo | Trisomy 8q | | | -| MONDO:0868000 | autosomal recessive spastic paraplegia type 20 | GARD:5372 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 20 | | | -| MONDO:0868001 | acute promyelocytic leukemia | GARD:538 | MONDO:equivalentTo | Acute promyelocytic leukemia | | | -| MONDO:0868002 | transient tyrosinemia of the newborn | GARD:5388 | MONDO:equivalentTo | Transient tyrosinemia of the newborn | | | -| MONDO:0868003 | galactose epimerase deficiency | GARD:5392 | MONDO:equivalentTo | Galactose epimerase deficiency | | | -| MONDO:0868004 | uhl anomaly | GARD:5393 | MONDO:equivalentTo | Uhl anomaly | | | -| MONDO:0868005 | ulbright-hodes syndrome | GARD:5394 | MONDO:equivalentTo | Ulbright-Hodes syndrome | | | -| MONDO:0868006 | ulerythema ophryogenesis | GARD:5395 | MONDO:equivalentTo | Ulerythema ophryogenesis | | | -| MONDO:0868007 | ulna hypoplasia-intellectual disability syndrome | GARD:5398 | MONDO:equivalentTo | Ulna hypoplasia-intellectual disability syndrome | | | -| MONDO:0868008 | duodenal atresia | GARD:54 | MONDO:equivalentTo | Duodenal atresia | | | -| MONDO:0868009 | medium chain acyl-coa dehydrogenase deficiency | GARD:540 | MONDO:equivalentTo | Medium chain acyl-CoA dehydrogenase deficiency | | | -| MONDO:0868010 | ulnar hypoplasia-split foot syndrome | GARD:5400 | MONDO:equivalentTo | Ulnar hypoplasia-split foot syndrome | | | -| MONDO:0868011 | umbilical cord ulceration-intestinal atresia syndrome | GARD:5403 | MONDO:equivalentTo | Umbilical cord ulceration-intestinal atresia syndrome | | | -| MONDO:0868012 | uncombable hair syndrome | GARD:5404 | MONDO:equivalentTo | Uncombable hair syndrome | | | -| MONDO:0868013 | 17q11 microdeletion syndrome | GARD:5408 | MONDO:equivalentTo | 17q11 microdeletion syndrome | | | -| MONDO:0868014 | kagami-ogata syndrome due to paternal uniparental disomy of chromosome 14 | GARD:5409 | MONDO:equivalentTo | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | -| MONDO:0868015 | upington disease | GARD:5421 | MONDO:equivalentTo | Upington disease | | | -| MONDO:0868016 | urachal cyst | GARD:5425 | MONDO:equivalentTo | Urachal cyst | | | -| MONDO:0868017 | urban-rogers-meyer syndrome | GARD:5426 | MONDO:equivalentTo | Urban-Rogers-Meyer syndrome | | | -| MONDO:0868018 | hereditary mucoepithelial dysplasia | GARD:5427 | MONDO:equivalentTo | Hereditary mucoepithelial dysplasia | | | -| MONDO:0868019 | hereditary orotic aciduria | GARD:5429 | MONDO:equivalentTo | Hereditary orotic aciduria | | | -| MONDO:0868020 | müllerian derivatives-lymphangiectasia-polydactyly syndrome | GARD:5430 | MONDO:equivalentTo | Müllerian derivatives-lymphangiectasia-polydactyly syndrome | | | -| MONDO:0868021 | usher syndrome type 1 | GARD:5435 | MONDO:equivalentTo | Usher syndrome type 1 | | | -| MONDO:0868022 | usher syndrome type 2 | GARD:5440 | MONDO:equivalentTo | Usher syndrome type 2 | | | -| MONDO:0868023 | usher syndrome type 3 | GARD:5442 | MONDO:equivalentTo | Usher syndrome type 3 | | | -| MONDO:0868024 | vacterl/vater association | GARD:5443 | MONDO:equivalentTo | VACTERL/VATER association | | | -| MONDO:0868025 | mayer-rokitansky-küster-hauser syndrome | GARD:5445 | MONDO:equivalentTo | Mayer-Rokitansky-Küster-Hauser syndrome | | | -| MONDO:0868026 | fetal valproate spectrum disorder | GARD:5447 | MONDO:equivalentTo | Fetal valproate spectrum disorder | | | -| MONDO:0868027 | van den bosch syndrome | GARD:5453 | MONDO:equivalentTo | Van den Bosch syndrome | | | -| MONDO:0868028 | cerebrofacioarticular syndrome | GARD:5456 | MONDO:equivalentTo | Cerebrofacioarticular syndrome | | | -| MONDO:0868029 | adenine phosphoribosyltransferase deficiency | GARD:546 | MONDO:equivalentTo | Adenine phosphoribosyltransferase deficiency | | | -| MONDO:0868030 | congenital bilateral absence of vas deferens | GARD:5461 | MONDO:equivalentTo | Congenital bilateral absence of vas deferens | | | -| MONDO:0868031 | vein of galen aneurysmal malformation | GARD:5467 | MONDO:equivalentTo | Vein of Galen aneurysmal malformation | | | -| MONDO:0868032 | velo-facial-skeletal syndrome | GARD:5469 | MONDO:equivalentTo | Velo-facial-skeletal syndrome | | | -| MONDO:0868033 | adenosine monophosphate deaminase deficiency | GARD:547 | MONDO:equivalentTo | Adenosine monophosphate deaminase deficiency | | | -| MONDO:0868034 | congenital velopharyngeal incompetence | GARD:5470 | MONDO:equivalentTo | Congenital velopharyngeal incompetence | | | -| MONDO:0868035 | ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome | GARD:5472 | MONDO:equivalentTo | Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome | | | -| MONDO:0868036 | congenitally uncorrected transposition of the great arteries | GARD:5476 | MONDO:equivalentTo | Congenitally uncorrected transposition of the great arteries | | | -| MONDO:0868037 | brachyolmia-amelogenesis imperfecta syndrome | GARD:5478 | MONDO:equivalentTo | Brachyolmia-amelogenesis imperfecta syndrome | | | -| MONDO:0868038 | microspherophakia-metaphyseal dysplasia syndrome | GARD:5481 | MONDO:equivalentTo | Microspherophakia-metaphyseal dysplasia syndrome | | | -| MONDO:0868039 | verloove vanhorick-brubakk syndrome | GARD:5482 | MONDO:equivalentTo | Verloove Vanhorick-Brubakk syndrome | | | -| MONDO:0868040 | inflammatory linear verrucous epidermal nevus | GARD:5484 | MONDO:equivalentTo | Inflammatory linear verrucous epidermal nevus | | | -| MONDO:0868041 | acanthokeratolytic verrucous nevus | GARD:5485 | MONDO:equivalentTo | Acanthokeratolytic verrucous nevus | | | -| MONDO:0868042 | congenital vertical talus | GARD:5488 | MONDO:equivalentTo | Congenital vertical talus | | | -| MONDO:0868043 | microcephaly-brachydactyly-kyphoscoliosis syndrome | GARD:5490 | MONDO:equivalentTo | Microcephaly-brachydactyly-kyphoscoliosis syndrome | | | -| MONDO:0868044 | viral hemorrhagic fever | GARD:5494 | MONDO:equivalentTo | Viral hemorrhagic fever | | | -| MONDO:0868045 | malignant sertoli-leydig cell tumor of the ovary | GARD:5495 | MONDO:equivalentTo | Malignant Sertoli-Leydig cell tumor of the ovary | | | -| MONDO:0868046 | oculogastrointestinal muscular dystrophy | GARD:5496 | MONDO:equivalentTo | Oculogastrointestinal muscular dystrophy | | | -| MONDO:0868047 | adenylosuccinate lyase deficiency | GARD:550 | MONDO:equivalentTo | Adenylosuccinate lyase deficiency | | | -| MONDO:0868048 | vitamin b12-responsive methylmalonic acidemia type cbla | GARD:5500 | MONDO:equivalentTo | Vitamin B12-responsive methylmalonic acidemia type cblA | | | -| MONDO:0868049 | autosomal dominant vitreoretinochoroidopathy | GARD:5507 | MONDO:equivalentTo | Autosomal dominant vitreoretinochoroidopathy | | | -| MONDO:0868050 | very long chain acyl-coa dehydrogenase deficiency | GARD:5508 | MONDO:equivalentTo | Very long chain acyl-CoA dehydrogenase deficiency | | | -| MONDO:0868051 | laryngeal abductor paralysis | GARD:5509 | MONDO:equivalentTo | Laryngeal abductor paralysis | | | -| MONDO:0868052 | mayer-rokitansky-küster-hauser syndrome type 2 | GARD:5513 | MONDO:equivalentTo | Mayer-Rokitansky-Küster-Hauser syndrome type 2 | | | -| MONDO:0868053 | hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome | GARD:5518 | MONDO:equivalentTo | Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome | | | -| MONDO:0868054 | waardenburg syndrome type 1 | GARD:5519 | MONDO:equivalentTo | Waardenburg syndrome type 1 | | | -| MONDO:0868055 | waardenburg syndrome type 2 | GARD:5520 | MONDO:equivalentTo | Waardenburg syndrome type 2 | | | -| MONDO:0868056 | waardenburg syndrome type 3 | GARD:5523 | MONDO:equivalentTo | Waardenburg syndrome type 3 | | | -| MONDO:0868057 | waardenburg-shah syndrome | GARD:5524 | MONDO:equivalentTo | Waardenburg-Shah syndrome | | | -| MONDO:0868058 | waardenburg syndrome | GARD:5525 | MONDO:equivalentTo | Waardenburg syndrome | | | -| MONDO:0868059 | wagr syndrome | GARD:5528 | MONDO:equivalentTo | WAGR syndrome | | | -| MONDO:0868060 | aniridia-intellectual disability syndrome | GARD:5530 | MONDO:equivalentTo | Aniridia-intellectual disability syndrome | | | -| MONDO:0868061 | cleidorhizomelic syndrome | GARD:5532 | MONDO:equivalentTo | Cleidorhizomelic syndrome | | | -| MONDO:0868062 | micro syndrome | GARD:5534 | MONDO:equivalentTo | Micro syndrome | | | -| MONDO:0868063 | deaf blind hypopigmentation syndrome, yemenite type | GARD:5535 | MONDO:equivalentTo | Deaf blind hypopigmentation syndrome, Yemenite type | | | -| MONDO:0868064 | craniosynostosis, boston type | GARD:5538 | MONDO:equivalentTo | Craniosynostosis, Boston type | | | -| MONDO:0868065 | acromelic frontonasal dysplasia | GARD:5539 | MONDO:equivalentTo | Acromelic frontonasal dysplasia | | | -| MONDO:0868066 | weaver-williams syndrome | GARD:5545 | MONDO:equivalentTo | Weaver-Williams syndrome | | | -| MONDO:0868067 | x-linked adrenal hypoplasia congenita | GARD:555 | MONDO:equivalentTo | X-linked adrenal hypoplasia congenita | | | -| MONDO:0868068 | distal myopathy, welander type | GARD:5552 | MONDO:equivalentTo | Distal myopathy, Welander type | | | -| MONDO:0868069 | cataract-aberrant oral frenula-growth delay syndrome | GARD:5554 | MONDO:equivalentTo | Cataract-aberrant oral frenula-growth delay syndrome | | | -| MONDO:0868070 | spastic paraparesis-deafness syndrome | GARD:5555 | MONDO:equivalentTo | Spastic paraparesis-deafness syndrome | | | -| MONDO:0868071 | white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome | GARD:5560 | MONDO:equivalentTo | White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome | | | -| MONDO:0868072 | osteopathia striata-pigmentary dermopathy-white forelock syndrome | GARD:5562 | MONDO:equivalentTo | Osteopathia striata-pigmentary dermopathy-white forelock syndrome | | | -| MONDO:0868073 | wiedemann-steiner syndrome | GARD:5565 | MONDO:equivalentTo | Wiedemann-Steiner syndrome | | | -| MONDO:0868074 | wildervanck syndrome | GARD:5569 | MONDO:equivalentTo | Wildervanck syndrome | | | -| MONDO:0868075 | acquired von willebrand syndrome | GARD:5573 | MONDO:equivalentTo | Acquired von Willebrand syndrome | | | -| MONDO:0868076 | prader-willi syndrome | GARD:5575 | MONDO:equivalentTo | Prader-Willi syndrome | | | -| MONDO:0868077 | denys-drash syndrome | GARD:5576 | MONDO:equivalentTo | Denys-Drash syndrome | | | -| MONDO:0868078 | wilson-turner syndrome | GARD:5579 | MONDO:equivalentTo | Wilson-Turner syndrome | | | -| MONDO:0868079 | adrenocortical carcinoma | GARD:558 | MONDO:equivalentTo | Adrenocortical carcinoma | | | -| MONDO:0868080 | curry-jones syndrome | GARD:5584 | MONDO:equivalentTo | Curry-Jones syndrome | | | -| MONDO:0868081 | hypodontia-dysplasia of nails syndrome | GARD:5587 | MONDO:equivalentTo | Hypodontia-dysplasia of nails syndrome | | | -| MONDO:0868082 | wolcott-rallison syndrome | GARD:5589 | MONDO:equivalentTo | Wolcott-Rallison syndrome | | | -| MONDO:0868083 | neonatal adrenoleukodystrophy | GARD:559 | MONDO:equivalentTo | Neonatal adrenoleukodystrophy | | | -| MONDO:0868084 | woodhouse-sakati syndrome | GARD:5592 | MONDO:equivalentTo | Woodhouse-Sakati syndrome | | | -| MONDO:0868085 | carvajal syndrome | GARD:5595 | MONDO:equivalentTo | Carvajal syndrome | | | -| MONDO:0868086 | woolly hair | GARD:5597 | MONDO:equivalentTo | Woolly hair | | | -| MONDO:0868087 | worster-drought syndrome | GARD:5598 | MONDO:equivalentTo | Worster-Drought syndrome | | | -| MONDO:0868088 | severe x-linked intellectual disability, gustavson type | GARD:5611 | MONDO:equivalentTo | Severe X-linked intellectual disability, Gustavson type | | | -| MONDO:0868089 | x-linked intellectual disability, snyder type | GARD:5615 | MONDO:equivalentTo | X-linked intellectual disability, Snyder type | | | -| MONDO:0868090 | allan-herndon-dudley syndrome | GARD:5617 | MONDO:equivalentTo | Allan-Herndon-Dudley syndrome | | | -| MONDO:0868091 | t-b+ severe combined immunodeficiency due to gamma chain deficiency | GARD:5618 | MONDO:equivalentTo | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | -| MONDO:0868092 | adrenomyodystrophy | GARD:562 | MONDO:equivalentTo | Adrenomyodystrophy | | | -| MONDO:0868093 | xanthinuria type ii | GARD:5620 | MONDO:equivalentTo | Xanthinuria type II | | | -| MONDO:0868094 | xanthinuria type i | GARD:5621 | MONDO:equivalentTo | Xanthinuria type I | | | -| MONDO:0868095 | cerebrotendinous xanthomatosis | GARD:5622 | MONDO:equivalentTo | Cerebrotendinous xanthomatosis | | | -| MONDO:0868096 | dehydrated hereditary stomatocytosis | GARD:5623 | MONDO:equivalentTo | Dehydrated hereditary stomatocytosis | | | -| MONDO:0868097 | xeroderma pigmentosum variant | GARD:5630 | MONDO:equivalentTo | Xeroderma pigmentosum variant | | | -| MONDO:0868098 | proximal spinal muscular atrophy type 4 | GARD:564 | MONDO:equivalentTo | Proximal spinal muscular atrophy type 4 | | | -| MONDO:0868099 | aase-smith syndrome | GARD:5642 | MONDO:equivalentTo | Aase-Smith syndrome | | | -| MONDO:0868100 | dentatorubral pallidoluysian atrophy | GARD:5643 | MONDO:equivalentTo | Dentatorubral pallidoluysian atrophy | | | -| MONDO:0868101 | photosensitive epilepsy | GARD:5648 | MONDO:equivalentTo | Photosensitive epilepsy | | | -| MONDO:0868102 | gliosarcoma | GARD:5653 | MONDO:equivalentTo | Gliosarcoma | | | -| MONDO:0868103 | alveolar soft tissue sarcoma | GARD:5654 | MONDO:equivalentTo | Alveolar soft tissue sarcoma | | | -| MONDO:0868104 | pfapa syndrome | GARD:5657 | MONDO:equivalentTo | PFAPA syndrome | | | -| MONDO:0868105 | congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | GARD:5658 | MONDO:equivalentTo | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | | | -| MONDO:0868106 | 46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | GARD:5659 | MONDO:equivalentTo | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | | | -| MONDO:0868107 | d-2-hydroxyglutaric aciduria | GARD:5661 | MONDO:equivalentTo | D-2-hydroxyglutaric aciduria | | | -| MONDO:0868108 | 3-hydroxyisobutyric aciduria | GARD:5662 | MONDO:equivalentTo | 3-hydroxyisobutyric aciduria | | | -| MONDO:0868109 | 3-methylglutaconic aciduria type 3 | GARD:5663 | MONDO:equivalentTo | 3-methylglutaconic aciduria type 3 | | | -| MONDO:0868110 | 3c syndrome | GARD:5666 | MONDO:equivalentTo | 3C syndrome | | | -| MONDO:0868111 | 3m syndrome | GARD:5667 | MONDO:equivalentTo | 3M syndrome | | | -| MONDO:0868112 | hawkinsinuria | GARD:5668 | MONDO:equivalentTo | Hawkinsinuria | | | -| MONDO:0868113 | 46,xx gonadal dysgenesis | GARD:5671 | MONDO:equivalentTo | 46,XX gonadal dysgenesis | | | -| MONDO:0868114 | trisomy x | GARD:5672 | MONDO:equivalentTo | Trisomy X | | | -| MONDO:0868115 | 47,xyy syndrome | GARD:5674 | MONDO:equivalentTo | 47,XYY syndrome | | | -| MONDO:0868116 | 48,xxxy syndrome | GARD:5676 | MONDO:equivalentTo | 48,XXXY syndrome | | | -| MONDO:0868117 | 48,xxyy syndrome | GARD:5677 | MONDO:equivalentTo | 48,XXYY syndrome | | | -| MONDO:0868118 | pentasomy x | GARD:5678 | MONDO:equivalentTo | Pentasomy X | | | -| MONDO:0868119 | 49,xxxxy syndrome | GARD:5679 | MONDO:equivalentTo | 49,XXXXY syndrome | | | -| MONDO:0868120 | 46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency | GARD:5680 | MONDO:equivalentTo | 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency | | | -| MONDO:0868121 | 5-oxoprolinase deficiency | GARD:5681 | MONDO:equivalentTo | 5-oxoprolinase deficiency | | | -| MONDO:0868122 | 6-pyruvoyl-tetrahydropterin synthase deficiency | GARD:5682 | MONDO:equivalentTo | 6-pyruvoyl-tetrahydropterin synthase deficiency | | | -| MONDO:0868123 | smith-lemli-opitz syndrome | GARD:5683 | MONDO:equivalentTo | Smith-Lemli-Opitz syndrome | | | -| MONDO:0868124 | glycogen storage disease due to muscle phosphofructokinase deficiency | GARD:5686 | MONDO:equivalentTo | Glycogen storage disease due to muscle phosphofructokinase deficiency | | | -| MONDO:0868125 | temtamy syndrome | GARD:5688 | MONDO:equivalentTo | Temtamy syndrome | | | -| MONDO:0868126 | refsum disease | GARD:5691 | MONDO:equivalentTo | Refsum disease | | | -| MONDO:0868127 | partial androgen insensitivity syndrome | GARD:5692 | MONDO:equivalentTo | Partial androgen insensitivity syndrome | | | -| MONDO:0868128 | reactive arthritis | GARD:5693 | MONDO:equivalentTo | Reactive arthritis | | | -| MONDO:0868129 | retinitis pigmentosa | GARD:5694 | MONDO:equivalentTo | Retinitis pigmentosa | | | -| MONDO:0868130 | retinopathy of prematurity | GARD:5695 | MONDO:equivalentTo | Retinopathy of prematurity | | | -| MONDO:0868131 | rett syndrome | GARD:5696 | MONDO:equivalentTo | Rett syndrome | | | -| MONDO:0868132 | rheumatic fever | GARD:5699 | MONDO:equivalentTo | Rheumatic fever | | | -| MONDO:0868133 | axenfeld-rieger syndrome | GARD:5701 | MONDO:equivalentTo | Axenfeld-Rieger syndrome | | | -| MONDO:0868134 | idiopathic achalasia | GARD:5708 | MONDO:equivalentTo | Idiopathic achalasia | | | -| MONDO:0868135 | glycogen storage disease due to acid maltase deficiency | GARD:5714 | MONDO:equivalentTo | Glycogen storage disease due to acid maltase deficiency | | | -| MONDO:0868136 | acrocallosal syndrome | GARD:5721 | MONDO:equivalentTo | Acrocallosal syndrome | | | -| MONDO:0868137 | acrodermatitis enteropathica | GARD:5723 | MONDO:equivalentTo | Acrodermatitis enteropathica | | | -| MONDO:0868138 | acrodysostosis | GARD:5724 | MONDO:equivalentTo | Acrodysostosis | | | -| MONDO:0868139 | acromegaly | GARD:5725 | MONDO:equivalentTo | Acromegaly | | | -| MONDO:0868140 | congenital isolated acth deficiency | GARD:5727 | MONDO:equivalentTo | Congenital isolated ACTH deficiency | | | -| MONDO:0868141 | actinomycosis | GARD:5728 | MONDO:equivalentTo | Actinomycosis | | | -| MONDO:0868142 | acute intermittent porphyria | GARD:5732 | MONDO:equivalentTo | Acute intermittent porphyria | | | -| MONDO:0868143 | adams-oliver syndrome | GARD:5739 | MONDO:equivalentTo | Adams-Oliver syndrome | | | -| MONDO:0868144 | addison disease | GARD:5740 | MONDO:equivalentTo | Addison disease | | | -| MONDO:0868145 | ameloblastoma | GARD:5747 | MONDO:equivalentTo | Ameloblastoma | | | -| MONDO:0868146 | severe combined immunodeficiency due to adenosine deaminase deficiency | GARD:5748 | MONDO:equivalentTo | Severe combined immunodeficiency due to adenosine deaminase deficiency | | | -| MONDO:0868147 | holmes-adie syndrome | GARD:5749 | MONDO:equivalentTo | Holmes-Adie syndrome | | | -| MONDO:0868148 | aicardi-goutières syndrome | GARD:575 | MONDO:equivalentTo | Aicardi-Goutières syndrome | | | -| MONDO:0868149 | adiposis dolorosa | GARD:5750 | MONDO:equivalentTo | Adiposis dolorosa | | | -| MONDO:0868150 | x-linked adrenoleukodystrophy | GARD:5758 | MONDO:equivalentTo | X-linked adrenoleukodystrophy | | | -| MONDO:0868151 | familial afibrinogenemia | GARD:5761 | MONDO:equivalentTo | Familial afibrinogenemia | | | -| MONDO:0868152 | aicardi syndrome | GARD:5764 | MONDO:equivalentTo | Aicardi syndrome | | | -| MONDO:0868153 | pseudohypoparathyroidism with albright hereditary osteodystrophy | GARD:5770 | MONDO:equivalentTo | Pseudohypoparathyroidism with Albright hereditary osteodystrophy | | | -| MONDO:0868154 | alexander disease | GARD:5774 | MONDO:equivalentTo | Alexander disease | | | -| MONDO:0868155 | alkaptonuria | GARD:5775 | MONDO:equivalentTo | Alkaptonuria | | | -| MONDO:0868156 | alpers-huttenlocher syndrome | GARD:5783 | MONDO:equivalentTo | Alpers-Huttenlocher syndrome | | | -| MONDO:0868157 | alpha-1-antitrypsin deficiency | GARD:5784 | MONDO:equivalentTo | Alpha-1-antitrypsin deficiency | | | -| MONDO:0868158 | alport syndrome | GARD:5785 | MONDO:equivalentTo | Alport syndrome | | | -| MONDO:0868159 | amyotrophic lateral sclerosis | GARD:5786 | MONDO:equivalentTo | Amyotrophic lateral sclerosis | | | -| MONDO:0868160 | alström syndrome | GARD:5787 | MONDO:equivalentTo | Alström syndrome | | | -| MONDO:0868161 | amelogenesis imperfecta | GARD:5791 | MONDO:equivalentTo | Amelogenesis imperfecta | | | -| MONDO:0868162 | al amyloidosis | GARD:5797 | MONDO:equivalentTo | AL amyloidosis | | | -| MONDO:0868163 | otopalatodigital syndrome type 2 | GARD:5802 | MONDO:equivalentTo | Otopalatodigital syndrome type 2 | | | -| MONDO:0868164 | androgen insensitivity syndrome | GARD:5803 | MONDO:equivalentTo | Androgen insensitivity syndrome | | | -| MONDO:0868165 | isolated anencephaly/exencephaly | GARD:5808 | MONDO:equivalentTo | Isolated anencephaly/exencephaly | | | -| MONDO:0868166 | angelman syndrome | GARD:5810 | MONDO:equivalentTo | Angelman syndrome | | | -| MONDO:0868167 | isolated aniridia | GARD:5816 | MONDO:equivalentTo | Isolated aniridia | | | -| MONDO:0868168 | anodontia | GARD:5818 | MONDO:equivalentTo | Anodontia | | | -| MONDO:0868169 | testicular agenesis | GARD:5819 | MONDO:equivalentTo | Testicular agenesis | | | -| MONDO:0868170 | antiphospholipid syndrome | GARD:5824 | MONDO:equivalentTo | Antiphospholipid syndrome | | | -| MONDO:0868171 | antley-bixler syndrome | GARD:5826 | MONDO:equivalentTo | Antley-Bixler syndrome | | | -| MONDO:0868172 | aorta coarctation | GARD:5828 | MONDO:equivalentTo | Aorta coarctation | | | -| MONDO:0868173 | short stature-webbed neck-heart disease syndrome | GARD:583 | MONDO:equivalentTo | Short stature-webbed neck-heart disease syndrome | | | -| MONDO:0868174 | apert syndrome | GARD:5833 | MONDO:equivalentTo | Apert syndrome | | | -| MONDO:0868175 | aplasia cutis congenita | GARD:5835 | MONDO:equivalentTo | Aplasia cutis congenita | | | -| MONDO:0868176 | idiopathic aplastic anemia | GARD:5836 | MONDO:equivalentTo | Idiopathic aplastic anemia | | | -| MONDO:0868177 | arachnoiditis | GARD:5839 | MONDO:equivalentTo | Arachnoiditis | | | -| MONDO:0868178 | hirschsprung disease-nail hypoplasia-dysmorphism syndrome | GARD:584 | MONDO:equivalentTo | Hirschsprung disease-nail hypoplasia-dysmorphism syndrome | | | -| MONDO:0868179 | argininemia | GARD:5840 | MONDO:equivalentTo | Argininemia | | | -| MONDO:0868180 | argininosuccinic aciduria | GARD:5843 | MONDO:equivalentTo | Argininosuccinic aciduria | | | -| MONDO:0868181 | arrhythmogenic right ventricular cardiomyopathy | GARD:5847 | MONDO:equivalentTo | Arrhythmogenic right ventricular cardiomyopathy | | | -| MONDO:0868182 | asbestos intoxication | GARD:5852 | MONDO:equivalentTo | Asbestos intoxication | | | -| MONDO:0868183 | asherman syndrome | GARD:5853 | MONDO:equivalentTo | Asherman syndrome | | | -| MONDO:0868184 | aspartylglucosaminuria | GARD:5854 | MONDO:equivalentTo | Aspartylglucosaminuria | | | -| MONDO:0868185 | aspergillosis | GARD:5856 | MONDO:equivalentTo | Aspergillosis | | | -| MONDO:0868186 | anaplastic astrocytoma | GARD:5860 | MONDO:equivalentTo | Anaplastic astrocytoma | | | -| MONDO:0868187 | ataxia-telangiectasia | GARD:5862 | MONDO:equivalentTo | Ataxia-telangiectasia | | | -| MONDO:0868188 | alpha-thalassemia-x-linked intellectual disability syndrome | GARD:5864 | MONDO:equivalentTo | Alpha-thalassemia-X-linked intellectual disability syndrome | | | -| MONDO:0868189 | atrial septal defect, ostium secundum type | GARD:5865 | MONDO:equivalentTo | Atrial septal defect, ostium secundum type | | | -| MONDO:0868190 | localized lipodystrophy | GARD:5867 | MONDO:equivalentTo | Localized lipodystrophy | | | -| MONDO:0868191 | osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome | GARD:587 | MONDO:equivalentTo | Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome | | | -| MONDO:0868192 | autoimmune hemolytic anemia | GARD:5870 | MONDO:equivalentTo | Autoimmune hemolytic anemia | | | -| MONDO:0868193 | autoimmune hepatitis | GARD:5871 | MONDO:equivalentTo | Autoimmune hepatitis | | | -| MONDO:0868194 | babesiosis | GARD:5878 | MONDO:equivalentTo | Babesiosis | | | -| MONDO:0868195 | alar cartilages hypoplasia-coloboma-telecanthus syndrome | GARD:588 | MONDO:equivalentTo | Alar cartilages hypoplasia-coloboma-telecanthus syndrome | | | -| MONDO:0868196 | baló concentric sclerosis | GARD:5885 | MONDO:equivalentTo | Baló concentric sclerosis | | | -| MONDO:0868197 | bannayan-riley-ruvalcaba syndrome | GARD:5887 | MONDO:equivalentTo | Bannayan-Riley-Ruvalcaba syndrome | | | -| MONDO:0868198 | albinism-deafness syndrome | GARD:589 | MONDO:equivalentTo | Albinism-deafness syndrome | | | -| MONDO:0868199 | barth syndrome | GARD:5890 | MONDO:equivalentTo | Barth syndrome | | | -| MONDO:0868200 | bartter syndrome | GARD:5893 | MONDO:equivalentTo | Bartter syndrome | | | -| MONDO:0868201 | cln3 disease | GARD:5897 | MONDO:equivalentTo | CLN3 disease | | | -| MONDO:0868202 | congenital myopathy | GARD:5898 | MONDO:equivalentTo | Congenital myopathy | | | -| MONDO:0868203 | congenital contractural arachnodactyly | GARD:5899 | MONDO:equivalentTo | Congenital contractural arachnodactyly | | | -| MONDO:0868204 | spinocerebellar ataxia type 34 | GARD:59 | MONDO:equivalentTo | Spinocerebellar ataxia type 34 | | | -| MONDO:0868205 | becker muscular dystrophy | GARD:5900 | MONDO:equivalentTo | Becker muscular dystrophy | | | -| MONDO:0868206 | diffuse astrocytoma | GARD:5907 | MONDO:equivalentTo | Diffuse astrocytoma | | | -| MONDO:0868207 | mucous membrane pemphigoid | GARD:5913 | MONDO:equivalentTo | Mucous membrane pemphigoid | | | -| MONDO:0868208 | ocular albinism with late-onset sensorineural deafness | GARD:592 | MONDO:equivalentTo | Ocular albinism with late-onset sensorineural deafness | | | -| MONDO:0868209 | birdshot chorioretinopathy | GARD:5926 | MONDO:equivalentTo | Birdshot chorioretinopathy | | | -| MONDO:0868210 | blue diaper syndrome | GARD:5939 | MONDO:equivalentTo | Blue diaper syndrome | | | -| MONDO:0868211 | oculocutaneous albinism type 1b | GARD:594 | MONDO:equivalentTo | Oculocutaneous albinism type 1B | | | -| MONDO:0868212 | blue rubber bleb nevus | GARD:5940 | MONDO:equivalentTo | Blue rubber bleb nevus | | | -| MONDO:0868213 | bowen-conradi syndrome | GARD:5950 | MONDO:equivalentTo | Bowen-Conradi syndrome | | | -| MONDO:0868214 | bronchiolitis obliterans with obstructive pulmonary disease | GARD:5961 | MONDO:equivalentTo | Bronchiolitis obliterans with obstructive pulmonary disease | | | -| MONDO:0868215 | bronchopulmonary dysplasia | GARD:5962 | MONDO:equivalentTo | Bronchopulmonary dysplasia | | | -| MONDO:0868216 | brucellosis | GARD:5966 | MONDO:equivalentTo | Brucellosis | | | -| MONDO:0868217 | budd-chiari syndrome | GARD:5968 | MONDO:equivalentTo | Budd-Chiari syndrome | | | -| MONDO:0868218 | buerger disease | GARD:5969 | MONDO:equivalentTo | Buerger disease | | | -| MONDO:0868219 | bullous pemphigoid | GARD:5972 | MONDO:equivalentTo | Bullous pemphigoid | | | -| MONDO:0868220 | burkitt lymphoma | GARD:5973 | MONDO:equivalentTo | Burkitt lymphoma | | | -| MONDO:0868221 | burning mouth syndrome | GARD:5974 | MONDO:equivalentTo | Burning mouth syndrome | | | -| MONDO:0868222 | scleredema | GARD:5975 | MONDO:equivalentTo | Scleredema | | | -| MONDO:0868223 | c syndrome | GARD:5978 | MONDO:equivalentTo | C syndrome | | | -| MONDO:0868224 | hereditary angioedema | GARD:5979 | MONDO:equivalentTo | Hereditary angioedema | | | -| MONDO:0868225 | calciphylaxis | GARD:5980 | MONDO:equivalentTo | Calciphylaxis | | | -| MONDO:0868226 | canavan disease | GARD:5984 | MONDO:equivalentTo | Canavan disease | | | -| MONDO:0868227 | fetal alcohol syndrome | GARD:599 | MONDO:equivalentTo | Fetal alcohol syndrome | | | -| MONDO:0868228 | carcinoid syndrome | GARD:5994 | MONDO:equivalentTo | Carcinoid syndrome | | | -| MONDO:0868229 | acromesomelic dysplasia | GARD:6 | MONDO:equivalentTo | Acromesomelic dysplasia | | | -| MONDO:0868230 | iridocorneal endothelial syndrome | GARD:60 | MONDO:equivalentTo | Iridocorneal endothelial syndrome | | | -| MONDO:0868231 | glycogen storage disease due to aldolase a deficiency | GARD:600 | MONDO:equivalentTo | Glycogen storage disease due to aldolase A deficiency | | | -| MONDO:0868232 | carnosinase deficiency | GARD:6001 | MONDO:equivalentTo | Carnosinase deficiency | | | -| MONDO:0868233 | caroli disease | GARD:6002 | MONDO:equivalentTo | Caroli disease | | | -| MONDO:0868234 | carpenter syndrome | GARD:6003 | MONDO:equivalentTo | Carpenter syndrome | | | -| MONDO:0868235 | unicentric castleman disease | GARD:6005 | MONDO:equivalentTo | Unicentric Castleman disease | | | -| MONDO:0868236 | caudal regression syndrome | GARD:6007 | MONDO:equivalentTo | Caudal regression syndrome | | | -| MONDO:0868237 | macrocystic lymphatic malformation | GARD:6010 | MONDO:equivalentTo | Macrocystic lymphatic malformation | | | -| MONDO:0868238 | bilateral perisylvian polymicrogyria | GARD:6011 | MONDO:equivalentTo | Bilateral perisylvian polymicrogyria | | | -| MONDO:0868239 | central core disease | GARD:6014 | MONDO:equivalentTo | Central core disease | | | -| MONDO:0868240 | central diabetes insipidus | GARD:6015 | MONDO:equivalentTo | Central diabetes insipidus | | | -| MONDO:0868241 | allergic bronchopulmonary aspergillosis | GARD:602 | MONDO:equivalentTo | Allergic bronchopulmonary aspergillosis | | | -| MONDO:0868242 | cerebrocostomandibular syndrome | GARD:6026 | MONDO:equivalentTo | Cerebrocostomandibular syndrome | | | -| MONDO:0868243 | cofs syndrome | GARD:6027 | MONDO:equivalentTo | COFS syndrome | | | -| MONDO:0868244 | chandler syndrome | GARD:6033 | MONDO:equivalentTo | Chandler syndrome | | | -| MONDO:0868245 | charcot-marie-tooth disease/hereditary motor and sensory neuropathy | GARD:6034 | MONDO:equivalentTo | Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy | | | -| MONDO:0868246 | chédiak-higashi syndrome | GARD:6035 | MONDO:equivalentTo | Chédiak-Higashi syndrome | | | -| MONDO:0868247 | cherubism | GARD:6036 | MONDO:equivalentTo | Cherubism | | | -| MONDO:0868248 | chikungunya | GARD:6038 | MONDO:equivalentTo | Chikungunya | | | -| MONDO:0868249 | child syndrome | GARD:6039 | MONDO:equivalentTo | CHILD syndrome | | | -| MONDO:0868250 | autosomal dominant palmoplantar keratoderma and congenital alopecia | GARD:604 | MONDO:equivalentTo | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | -| MONDO:0868251 | childhood disintegrative disorder | GARD:6040 | MONDO:equivalentTo | Childhood disintegrative disorder | | | -| MONDO:0868252 | cholera | GARD:6043 | MONDO:equivalentTo | Cholera | | | -| MONDO:0868253 | rhizomelic chondrodysplasia punctata type 1 | GARD:6049 | MONDO:equivalentTo | Rhizomelic chondrodysplasia punctata type 1 | | | -| MONDO:0868254 | alopecia-contractures-dwarfism-intellectual disability syndrome | GARD:605 | MONDO:equivalentTo | Alopecia-contractures-dwarfism-intellectual disability syndrome | | | -| MONDO:0868255 | chondrosarcoma | GARD:6055 | MONDO:equivalentTo | Chondrosarcoma | | | -| MONDO:0868256 | moynahan syndrome | GARD:606 | MONDO:equivalentTo | Moynahan syndrome | | | -| MONDO:0868257 | choroideremia | GARD:6061 | MONDO:equivalentTo | Choroideremia | | | -| MONDO:0868258 | chromophobe renal cell carcinoma | GARD:6064 | MONDO:equivalentTo | Chromophobe renal cell carcinoma | | | -| MONDO:0868259 | ring chromosome 13 syndrome | GARD:6069 | MONDO:equivalentTo | Ring chromosome 13 syndrome | | | -| MONDO:0868260 | alopecia-epilepsy-pyorrhea-intellectual disability syndrome | GARD:607 | MONDO:equivalentTo | Alopecia-epilepsy-pyorrhea-intellectual disability syndrome | | | -| MONDO:0868261 | ring chromosome 14 syndrome | GARD:6072 | MONDO:equivalentTo | Ring chromosome 14 syndrome | | | -| MONDO:0868262 | ring chromosome 18 syndrome | GARD:6077 | MONDO:equivalentTo | Ring chromosome 18 syndrome | | | -| MONDO:0868263 | 1p36 deletion syndrome | GARD:6082 | MONDO:equivalentTo | 1p36 deletion syndrome | | | -| MONDO:0868264 | ring chromosome 21 syndrome | GARD:6083 | MONDO:equivalentTo | Ring chromosome 21 syndrome | | | -| MONDO:0868265 | mosaic trisomy 22 | GARD:6085 | MONDO:equivalentTo | Mosaic trisomy 22 | | | -| MONDO:0868266 | trisomy 4p | GARD:6091 | MONDO:equivalentTo | Trisomy 4p | | | -| MONDO:0868267 | trisomy 5p | GARD:6093 | MONDO:equivalentTo | Trisomy 5p | | | -| MONDO:0868268 | ring chromosome 6 syndrome | GARD:6095 | MONDO:equivalentTo | Ring chromosome 6 syndrome | | | -| MONDO:0868269 | femoral-facial syndrome | GARD:61 | MONDO:equivalentTo | Femoral-facial syndrome | | | -| MONDO:0868270 | chronic granulomatous disease | GARD:6100 | MONDO:equivalentTo | Chronic granulomatous disease | | | -| MONDO:0868271 | chronic inflammatory demyelinating polyneuropathy | GARD:6102 | MONDO:equivalentTo | Chronic inflammatory demyelinating polyneuropathy | | | -| MONDO:0868272 | b-cell chronic lymphocytic leukemia | GARD:6104 | MONDO:equivalentTo | B-cell chronic lymphocytic leukemia | | | -| MONDO:0868273 | chronic myeloid leukemia | GARD:6105 | MONDO:equivalentTo | Chronic myeloid leukemia | | | -| MONDO:0868274 | chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis | GARD:6108 | MONDO:equivalentTo | Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis | | | -| MONDO:0868275 | eosinophilic granulomatosis with polyangiitis | GARD:6111 | MONDO:equivalentTo | Eosinophilic granulomatosis with polyangiitis | | | -| MONDO:0868276 | citrullinemia type i | GARD:6114 | MONDO:equivalentTo | Citrullinemia type I | | | -| MONDO:0868277 | cleidocranial dysplasia | GARD:6118 | MONDO:equivalentTo | Cleidocranial dysplasia | | | -| MONDO:0868278 | alopecia-intellectual disability syndrome | GARD:612 | MONDO:equivalentTo | Alopecia-intellectual disability syndrome | | | -| MONDO:0868279 | coats disease | GARD:6121 | MONDO:equivalentTo | Coats disease | | | -| MONDO:0868280 | cockayne syndrome | GARD:6122 | MONDO:equivalentTo | Cockayne syndrome | | | -| MONDO:0868281 | coffin-lowry syndrome | GARD:6123 | MONDO:equivalentTo | Coffin-Lowry syndrome | | | -| MONDO:0868282 | coffin-siris syndrome | GARD:6124 | MONDO:equivalentTo | Coffin-Siris syndrome | | | -| MONDO:0868283 | cogan-reese syndrome | GARD:6125 | MONDO:equivalentTo | Cogan-Reese syndrome | | | -| MONDO:0868284 | cohen syndrome | GARD:6126 | MONDO:equivalentTo | Cohen syndrome | | | -| MONDO:0868285 | alopecia totalis | GARD:613 | MONDO:equivalentTo | Alopecia totalis | | | -| MONDO:0868286 | cold agglutinin disease | GARD:6130 | MONDO:equivalentTo | Cold agglutinin disease | | | -| MONDO:0868287 | alopecia universalis | GARD:614 | MONDO:equivalentTo | Alopecia universalis | | | -| MONDO:0868288 | common variable immunodeficiency | GARD:6140 | MONDO:equivalentTo | Common variable immunodeficiency | | | -| MONDO:0868289 | hereditary thrombophilia due to congenital antithrombin deficiency | GARD:6148 | MONDO:equivalentTo | Hereditary thrombophilia due to congenital antithrombin deficiency | | | -| MONDO:0868290 | congenital fiber-type disproportion myopathy | GARD:6161 | MONDO:equivalentTo | Congenital fiber-type disproportion myopathy | | | -| MONDO:0868291 | congenital heart block | GARD:6164 | MONDO:equivalentTo | Congenital heart block | | | -| MONDO:0868292 | hepatoerythropoietic porphyria | GARD:6169 | MONDO:equivalentTo | Hepatoerythropoietic porphyria | | | -| MONDO:0868293 | oxoglutaric aciduria | GARD:617 | MONDO:equivalentTo | Oxoglutaric aciduria | | | -| MONDO:0868294 | x-linked dominant chondrodysplasia punctata | GARD:6189 | MONDO:equivalentTo | X-linked dominant chondrodysplasia punctata | | | -| MONDO:0868295 | triatrial heart | GARD:6194 | MONDO:equivalentTo | Triatrial heart | | | -| MONDO:0868296 | congenital hereditary endothelial dystrophy type ii | GARD:6196 | MONDO:equivalentTo | Congenital hereditary endothelial dystrophy type II | | | -| MONDO:0868297 | filippi syndrome | GARD:62 | MONDO:equivalentTo | Filippi syndrome | | | -| MONDO:0868298 | cowden syndrome | GARD:6202 | MONDO:equivalentTo | Cowden syndrome | | | -| MONDO:0868299 | cramp-fasciculation syndrome | GARD:6205 | MONDO:equivalentTo | Cramp-fasciculation syndrome | | | -| MONDO:0868300 | crouzon syndrome | GARD:6206 | MONDO:equivalentTo | Crouzon syndrome | | | -| MONDO:0868301 | craniosynostosis | GARD:6209 | MONDO:equivalentTo | Craniosynostosis | | | -| MONDO:0868302 | alpha-thalassemia | GARD:621 | MONDO:equivalentTo | Alpha-thalassemia | | | -| MONDO:0868303 | monosomy 5p | GARD:6213 | MONDO:equivalentTo | Monosomy 5p | | | -| MONDO:0868304 | simple cryoglobulinemia | GARD:6217 | MONDO:equivalentTo | Simple cryoglobulinemia | | | -| MONDO:0868305 | cryptococcosis | GARD:6218 | MONDO:equivalentTo | Cryptococcosis | | | -| MONDO:0868306 | cushing syndrome | GARD:6224 | MONDO:equivalentTo | Cushing syndrome | | | -| MONDO:0868307 | rare cutaneous lupus erythematosus | GARD:6225 | MONDO:equivalentTo | Rare cutaneous lupus erythematosus | | | -| MONDO:0868308 | primary cutaneous t-cell lymphoma | GARD:6226 | MONDO:equivalentTo | Primary cutaneous T-cell lymphoma | | | -| MONDO:0868309 | cutis laxa | GARD:6227 | MONDO:equivalentTo | Cutis laxa | | | -| MONDO:0868310 | cutis marmorata telangiectatica congenita | GARD:6228 | MONDO:equivalentTo | Cutis marmorata telangiectatica congenita | | | -| MONDO:0868311 | cyclic neutropenia | GARD:6229 | MONDO:equivalentTo | Cyclic neutropenia | | | -| MONDO:0868312 | cystic fibrosis | GARD:6233 | MONDO:equivalentTo | Cystic fibrosis | | | -| MONDO:0868313 | cystinosis | GARD:6236 | MONDO:equivalentTo | Cystinosis | | | -| MONDO:0868314 | cystinuria | GARD:6237 | MONDO:equivalentTo | Cystinuria | | | -| MONDO:0868315 | autosomal dominant alport syndrome | GARD:624 | MONDO:equivalentTo | Autosomal dominant Alport syndrome | | | -| MONDO:0868316 | isolated dandy-walker malformation | GARD:6242 | MONDO:equivalentTo | Isolated Dandy-Walker malformation | | | -| MONDO:0868317 | darier disease | GARD:6243 | MONDO:equivalentTo | Darier disease | | | -| MONDO:0868318 | malignant atrophic papulosis | GARD:6249 | MONDO:equivalentTo | Malignant atrophic papulosis | | | -| MONDO:0868319 | autosomal recessive alport syndrome | GARD:625 | MONDO:equivalentTo | Autosomal recessive Alport syndrome | | | -| MONDO:0868320 | dengue fever | GARD:6254 | MONDO:equivalentTo | Dengue fever | | | -| MONDO:0868321 | dentinogenesis imperfecta | GARD:6258 | MONDO:equivalentTo | Dentinogenesis imperfecta | | | -| MONDO:0868322 | dermatomyositis | GARD:6263 | MONDO:equivalentTo | Dermatomyositis | | | -| MONDO:0868323 | desmoplastic small round cell tumor | GARD:6265 | MONDO:equivalentTo | Desmoplastic small round cell tumor | | | -| MONDO:0868324 | neuromyelitis optica spectrum disorder | GARD:6267 | MONDO:equivalentTo | Neuromyelitis optica spectrum disorder | | | -| MONDO:0868325 | blackfan-diamond anemia | GARD:6274 | MONDO:equivalentTo | Blackfan-Diamond anemia | | | -| MONDO:0868326 | diastrophic dysplasia | GARD:6275 | MONDO:equivalentTo | Diastrophic dysplasia | | | -| MONDO:0868327 | diencephalic syndrome | GARD:6276 | MONDO:equivalentTo | Diencephalic syndrome | | | -| MONDO:0868328 | dracunculiasis | GARD:6286 | MONDO:equivalentTo | Dracunculiasis | | | -| MONDO:0868329 | duane retraction syndrome | GARD:6288 | MONDO:equivalentTo | Duane retraction syndrome | | | -| MONDO:0868330 | dubowitz syndrome | GARD:6290 | MONDO:equivalentTo | Dubowitz syndrome | | | -| MONDO:0868331 | duchenne muscular dystrophy | GARD:6291 | MONDO:equivalentTo | Duchenne muscular dystrophy | | | -| MONDO:0868332 | dyggve-melchior-clausen disease | GARD:6295 | MONDO:equivalentTo | Dyggve-Melchior-Clausen disease | | | -| MONDO:0868333 | autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | GARD:6308 | MONDO:equivalentTo | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | | | -| MONDO:0868334 | eales disease | GARD:6309 | MONDO:equivalentTo | Eales disease | | | -| MONDO:0868335 | ebstein malformation of the tricuspid valve | GARD:6313 | MONDO:equivalentTo | Ebstein malformation of the tricuspid valve | | | -| MONDO:0868336 | ectodermal dysplasia syndrome | GARD:6317 | MONDO:equivalentTo | Ectodermal dysplasia syndrome | | | -| MONDO:0868337 | isolated split hand-split foot malformation | GARD:6319 | MONDO:equivalentTo | Isolated split hand-split foot malformation | | | -| MONDO:0868338 | trisomy 18 | GARD:6321 | MONDO:equivalentTo | Trisomy 18 | | | -| MONDO:0868339 | ehlers-danlos syndrome | GARD:6322 | MONDO:equivalentTo | Ehlers-Danlos syndrome | | | -| MONDO:0868340 | eisenmenger syndrome | GARD:6323 | MONDO:equivalentTo | Eisenmenger syndrome | | | -| MONDO:0868341 | emery-dreifuss muscular dystrophy | GARD:6329 | MONDO:equivalentTo | Emery-Dreifuss muscular dystrophy | | | -| MONDO:0868342 | encephalitis lethargica | GARD:6332 | MONDO:equivalentTo | Encephalitis lethargica | | | -| MONDO:0868343 | isolated encephalocele | GARD:6333 | MONDO:equivalentTo | Isolated encephalocele | | | -| MONDO:0868344 | endocardial fibroelastosis | GARD:6336 | MONDO:equivalentTo | Endocardial fibroelastosis | | | -| MONDO:0868345 | infective endocarditis | GARD:6337 | MONDO:equivalentTo | Infective endocarditis | | | -| MONDO:0868346 | endometrial stromal sarcoma | GARD:6339 | MONDO:equivalentTo | Endometrial stromal sarcoma | | | -| MONDO:0868347 | leber congenital amaurosis | GARD:634 | MONDO:equivalentTo | Leber congenital amaurosis | | | -| MONDO:0868348 | eosinophilic fasciitis | GARD:6351 | MONDO:equivalentTo | Eosinophilic fasciitis | | | -| MONDO:0868349 | ependymoma | GARD:6353 | MONDO:equivalentTo | Ependymoma | | | -| MONDO:0868350 | epidermodysplasia verruciformis | GARD:6357 | MONDO:equivalentTo | Epidermodysplasia verruciformis | | | -| MONDO:0868351 | epidermolysis bullosa acquisita | GARD:6360 | MONDO:equivalentTo | Epidermolysis bullosa acquisita | | | -| MONDO:0868352 | erdheim-chester disease | GARD:6369 | MONDO:equivalentTo | Erdheim-Chester disease | | | -| MONDO:0868353 | amaurosis-hypertrichosis syndrome | GARD:637 | MONDO:equivalentTo | Amaurosis-hypertrichosis syndrome | | | -| MONDO:0868354 | primary erythromelalgia | GARD:6377 | MONDO:equivalentTo | Primary erythromelalgia | | | -| MONDO:0868355 | esophageal atresia | GARD:6381 | MONDO:equivalentTo | Esophageal atresia | | | -| MONDO:0868356 | carcinoma of esophagus | GARD:6383 | MONDO:equivalentTo | Carcinoma of esophagus | | | -| MONDO:0868357 | cryoglobulinemic vasculitis | GARD:6386 | MONDO:equivalentTo | Cryoglobulinemic vasculitis | | | -| MONDO:0868358 | evans syndrome | GARD:6389 | MONDO:equivalentTo | Evans syndrome | | | -| MONDO:0868359 | skeletal ewing sarcoma | GARD:6390 | MONDO:equivalentTo | Skeletal Ewing sarcoma | | | -| MONDO:0868360 | bladder exstrophy | GARD:6398 | MONDO:equivalentTo | Bladder exstrophy | | | -| MONDO:0868361 | fountain syndrome | GARD:64 | MONDO:equivalentTo | Fountain syndrome | | | -| MONDO:0868362 | congenital amegakaryocytic thrombocytopenia | GARD:640 | MONDO:equivalentTo | Congenital amegakaryocytic thrombocytopenia | | | -| MONDO:0868363 | fabry disease | GARD:6400 | MONDO:equivalentTo | Fabry disease | | | -| MONDO:0868364 | congenital factor x deficiency | GARD:6404 | MONDO:equivalentTo | Congenital factor X deficiency | | | -| MONDO:0868365 | acquired hemophilia a | GARD:6405 | MONDO:equivalentTo | Acquired hemophilia A | | | -| MONDO:0868366 | bilateral striopallidodentate calcinosis | GARD:6406 | MONDO:equivalentTo | Bilateral striopallidodentate calcinosis | | | -| MONDO:0868367 | familial adenomatous polyposis | GARD:6408 | MONDO:equivalentTo | Familial adenomatous polyposis | | | -| MONDO:0868368 | familial chylomicronemia syndrome | GARD:6414 | MONDO:equivalentTo | Familial chylomicronemia syndrome | | | -| MONDO:0868369 | familial mediterranean fever | GARD:6421 | MONDO:equivalentTo | Familial Mediterranean fever | | | -| MONDO:0868370 | fanconi anemia | GARD:6425 | MONDO:equivalentTo | Fanconi anemia | | | -| MONDO:0868371 | farber disease | GARD:6426 | MONDO:equivalentTo | Farber disease | | | -| MONDO:0868372 | farmer's lung disease | GARD:6427 | MONDO:equivalentTo | Farmer's lung disease | | | -| MONDO:0868373 | fatal familial insomnia | GARD:6429 | MONDO:equivalentTo | Fatal familial insomnia | | | -| MONDO:0868374 | fetal hydantoin syndrome | GARD:6435 | MONDO:equivalentTo | Fetal hydantoin syndrome | | | -| MONDO:0868375 | fibrous dysplasia of bone | GARD:6444 | MONDO:equivalentTo | Fibrous dysplasia of bone | | | -| MONDO:0868376 | fibrodysplasia ossificans progressiva | GARD:6445 | MONDO:equivalentTo | Fibrodysplasia ossificans progressiva | | | -| MONDO:0868377 | severe primary trimethylaminuria | GARD:6447 | MONDO:equivalentTo | Severe primary trimethylaminuria | | | -| MONDO:0868378 | hypoplastic amelogenesis imperfecta | GARD:645 | MONDO:equivalentTo | Hypoplastic amelogenesis imperfecta | | | -| MONDO:0868379 | fish-eye disease | GARD:6450 | MONDO:equivalentTo | Fish-eye disease | | | -| MONDO:0868380 | floating-harbor syndrome | GARD:6455 | MONDO:equivalentTo | Floating-Harbor syndrome | | | -| MONDO:0868381 | focal dermal hypoplasia | GARD:6457 | MONDO:equivalentTo | Focal dermal hypoplasia | | | -| MONDO:0868382 | enamel-renal syndrome | GARD:646 | MONDO:equivalentTo | Enamel-renal syndrome | | | -| MONDO:0868383 | fragile x syndrome | GARD:6464 | MONDO:equivalentTo | Fragile X syndrome | | | -| MONDO:0868384 | fraser syndrome | GARD:6465 | MONDO:equivalentTo | Fraser syndrome | | | -| MONDO:0868385 | freeman-sheldon syndrome | GARD:6466 | MONDO:equivalentTo | Freeman-Sheldon syndrome | | | -| MONDO:0868386 | friedreich ataxia | GARD:6468 | MONDO:equivalentTo | Friedreich ataxia | | | -| MONDO:0868387 | amelo-onycho-hypohidrotic syndrome | GARD:647 | MONDO:equivalentTo | Amelo-onycho-hypohidrotic syndrome | | | -| MONDO:0868388 | essential fructosuria | GARD:6471 | MONDO:equivalentTo | Essential fructosuria | | | -| MONDO:0868389 | fucosidosis | GARD:6473 | MONDO:equivalentTo | Fucosidosis | | | -| MONDO:0868390 | congenital muscular dystrophy, fukuyama type | GARD:6475 | MONDO:equivalentTo | Congenital muscular dystrophy, Fukuyama type | | | -| MONDO:0868391 | fumaric aciduria | GARD:6476 | MONDO:equivalentTo | Fumaric aciduria | | | -| MONDO:0868392 | gm1 gangliosidosis type 1 | GARD:6479 | MONDO:equivalentTo | GM1 gangliosidosis type 1 | | | -| MONDO:0868393 | autoerythrocyte sensitization syndrome | GARD:6481 | MONDO:equivalentTo | Autoerythrocyte sensitization syndrome | | | -| MONDO:0868394 | gardner syndrome | GARD:6482 | MONDO:equivalentTo | Gardner syndrome | | | -| MONDO:0868395 | malt lymphoma | GARD:6485 | MONDO:equivalentTo | MALT lymphoma | | | -| MONDO:0868396 | pemphigoid gestationis | GARD:6497 | MONDO:equivalentTo | Pemphigoid gestationis | | | -| MONDO:0868397 | gestational trophoblastic neoplasm | GARD:6498 | MONDO:equivalentTo | Gestational trophoblastic neoplasm | | | -| MONDO:0868398 | galloway-mowat syndrome | GARD:65 | MONDO:equivalentTo | Galloway-Mowat syndrome | | | -| MONDO:0868399 | giant axonal neuropathy | GARD:6500 | MONDO:equivalentTo | Giant axonal neuropathy | | | -| MONDO:0868400 | pituitary gigantism | GARD:6506 | MONDO:equivalentTo | Pituitary gigantism | | | -| MONDO:0868401 | glial tumor | GARD:6513 | MONDO:equivalentTo | Glial tumor | | | -| MONDO:0868402 | gliomatosis cerebri | GARD:6514 | MONDO:equivalentTo | Gliomatosis cerebri | | | -| MONDO:0868403 | glossopharyngeal neuralgia | GARD:6519 | MONDO:equivalentTo | Glossopharyngeal neuralgia | | | -| MONDO:0868404 | class i glucose-6-phosphate dehydrogenase deficiency | GARD:6520 | MONDO:equivalentTo | Class I glucose-6-phosphate dehydrogenase deficiency | | | -| MONDO:0868405 | glucose-galactose malabsorption | GARD:6521 | MONDO:equivalentTo | Glucose-galactose malabsorption | | | -| MONDO:0868406 | glutaryl-coa dehydrogenase deficiency | GARD:6522 | MONDO:equivalentTo | Glutaryl-CoA dehydrogenase deficiency | | | -| MONDO:0868407 | multiple acyl-coa dehydrogenase deficiency | GARD:6523 | MONDO:equivalentTo | Multiple acyl-CoA dehydrogenase deficiency | | | -| MONDO:0868408 | glycogen storage disease due to muscle glycogen phosphorylase deficiency | GARD:6528 | MONDO:equivalentTo | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | | | -| MONDO:0868409 | glycogen storage disease due to liver glycogen phosphorylase deficiency | GARD:6529 | MONDO:equivalentTo | Glycogen storage disease due to liver glycogen phosphorylase deficiency | | | -| MONDO:0868410 | beta-mercaptolactate cysteine disulfiduria | GARD:654 | MONDO:equivalentTo | Beta-mercaptolactate cysteine disulfiduria | | | -| MONDO:0868411 | gorham-stout disease | GARD:6542 | MONDO:equivalentTo | Gorham-Stout disease | | | -| MONDO:0868412 | acrogeria | GARD:6543 | MONDO:equivalentTo | Acrogeria | | | -| MONDO:0868413 | acute graft versus host disease | GARD:6544 | MONDO:equivalentTo | Acute graft versus host disease | | | -| MONDO:0868414 | greig cephalopolysyndactyly syndrome | GARD:6550 | MONDO:equivalentTo | Greig cephalopolysyndactyly syndrome | | | -| MONDO:0868415 | guillain-barré syndrome | GARD:6554 | MONDO:equivalentTo | Guillain-Barré syndrome | | | -| MONDO:0868416 | gyrate atrophy of choroid and retina | GARD:6556 | MONDO:equivalentTo | Gyrate atrophy of choroid and retina | | | -| MONDO:0868417 | congenital factor xii deficiency | GARD:6558 | MONDO:equivalentTo | Congenital factor XII deficiency | | | -| MONDO:0868418 | familial benign chronic pemphigus | GARD:6559 | MONDO:equivalentTo | Familial benign chronic pemphigus | | | -| MONDO:0868419 | classic hairy cell leukemia | GARD:6560 | MONDO:equivalentTo | Classic hairy cell leukemia | | | -| MONDO:0868420 | pantothenate kinase-associated neurodegeneration | GARD:6564 | MONDO:equivalentTo | Pantothenate kinase-associated neurodegeneration | | | -| MONDO:0868421 | harlequin ichthyosis | GARD:6568 | MONDO:equivalentTo | Harlequin ichthyosis | | | -| MONDO:0868422 | hartnup disease | GARD:6569 | MONDO:equivalentTo | Hartnup disease | | | -| MONDO:0868423 | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | GARD:6571 | MONDO:equivalentTo | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | | | -| MONDO:0868424 | sickle cell-hemoglobin c disease syndrome | GARD:6584 | MONDO:equivalentTo | Sickle cell-hemoglobin C disease syndrome | | | -| MONDO:0868425 | shiga toxin-associated hemolytic uremic syndrome | GARD:6588 | MONDO:equivalentTo | Shiga toxin-associated hemolytic uremic syndrome | | | -| MONDO:0868426 | familial hemophagocytic lymphohistiocytosis | GARD:6589 | MONDO:equivalentTo | Familial hemophagocytic lymphohistiocytosis | | | -| MONDO:0868427 | hemophilia a | GARD:6591 | MONDO:equivalentTo | Hemophilia A | | | -| MONDO:0868428 | essential thrombocythemia | GARD:6594 | MONDO:equivalentTo | Essential thrombocythemia | | | -| MONDO:0868429 | gorlin-chaudhry-moss syndrome | GARD:66 | MONDO:equivalentTo | Gorlin-Chaudhry-Moss syndrome | | | -| MONDO:0868430 | adult hepatocellular carcinoma | GARD:6608 | MONDO:equivalentTo | Adult hepatocellular carcinoma | | | -| MONDO:0868431 | hereditary amyloidosis | GARD:6611 | MONDO:equivalentTo | Hereditary amyloidosis | | | -| MONDO:0868432 | cln9 disease | GARD:6618 | MONDO:equivalentTo | CLN9 disease | | | -| MONDO:0868433 | hereditary coproporphyria | GARD:6619 | MONDO:equivalentTo | Hereditary coproporphyria | | | -| MONDO:0868434 | hereditary elliptocytosis | GARD:6621 | MONDO:equivalentTo | Hereditary elliptocytosis | | | -| MONDO:0868435 | hereditary fructose intolerance | GARD:6622 | MONDO:equivalentTo | Hereditary fructose intolerance | | | -| MONDO:0868436 | hereditary hemorrhagic telangiectasia | GARD:6626 | MONDO:equivalentTo | Hereditary hemorrhagic telangiectasia | | | -| MONDO:0868437 | hereditary chronic pancreatitis | GARD:6632 | MONDO:equivalentTo | Hereditary chronic pancreatitis | | | -| MONDO:0868438 | hereditary sensory and autonomic neuropathy type 1 | GARD:6635 | MONDO:equivalentTo | Hereditary sensory and autonomic neuropathy type 1 | | | -| MONDO:0868439 | hereditary spastic paraplegia | GARD:6637 | MONDO:equivalentTo | Hereditary spastic paraplegia | | | -| MONDO:0868440 | hereditary spherocytosis | GARD:6639 | MONDO:equivalentTo | Hereditary spherocytosis | | | -| MONDO:0868441 | anaplastic thyroid carcinoma | GARD:664 | MONDO:equivalentTo | Anaplastic thyroid carcinoma | | | -| MONDO:0868442 | hermansky-pudlak syndrome | GARD:6643 | MONDO:equivalentTo | Hermansky-Pudlak syndrome | | | -| MONDO:0868443 | herpes simplex virus encephalitis | GARD:6649 | MONDO:equivalentTo | Herpes simplex virus encephalitis | | | -| MONDO:0868444 | chronic hiccup | GARD:6657 | MONDO:equivalentTo | Chronic hiccup | | | -| MONDO:0868445 | hirschsprung disease | GARD:6660 | MONDO:equivalentTo | Hirschsprung disease | | | -| MONDO:0868446 | histidinemia | GARD:6661 | MONDO:equivalentTo | Histidinemia | | | -| MONDO:0868447 | holoprosencephaly | GARD:6665 | MONDO:equivalentTo | Holoprosencephaly | | | -| MONDO:0868448 | holt-oram syndrome | GARD:6666 | MONDO:equivalentTo | Holt-Oram syndrome | | | -| MONDO:0868449 | classic homocystinuria | GARD:6667 | MONDO:equivalentTo | Classic homocystinuria | | | -| MONDO:0868450 | congenital horner syndrome | GARD:6670 | MONDO:equivalentTo | Congenital Horner syndrome | | | -| MONDO:0868451 | mucopolysaccharidosis type 2 | GARD:6675 | MONDO:equivalentTo | Mucopolysaccharidosis type 2 | | | -| MONDO:0868452 | huntington disease | GARD:6677 | MONDO:equivalentTo | Huntington disease | | | -| MONDO:0868453 | x-linked sideroblastic anemia and spinocerebellar ataxia | GARD:668 | MONDO:equivalentTo | X-linked sideroblastic anemia and spinocerebellar ataxia | | | -| MONDO:0868454 | hydranencephaly | GARD:6681 | MONDO:equivalentTo | Hydranencephaly | | | -| MONDO:0868455 | congenital hydrocephalus | GARD:6682 | MONDO:equivalentTo | Congenital hydrocephalus | | | -| MONDO:0868456 | hydrolethalus | GARD:6683 | MONDO:equivalentTo | Hydrolethalus | | | -| MONDO:0868457 | aneurysm of sinus of valsalva | GARD:670 | MONDO:equivalentTo | Aneurysm of sinus of Valsalva | | | -| MONDO:0868458 | dysbetalipoproteinemia | GARD:6703 | MONDO:equivalentTo | Dysbetalipoproteinemia | | | -| MONDO:0868459 | familial apolipoprotein a5 deficiency | GARD:6704 | MONDO:equivalentTo | Familial apolipoprotein A5 deficiency | | | -| MONDO:0868460 | angel-shaped phalango-epiphyseal dysplasia | GARD:671 | MONDO:equivalentTo | Angel-shaped phalango-epiphyseal dysplasia | | | -| MONDO:0868461 | hyperprolinemia type 2 | GARD:6710 | MONDO:equivalentTo | Hyperprolinemia type 2 | | | -| MONDO:0868462 | hypochondroplasia | GARD:6724 | MONDO:equivalentTo | Hypochondroplasia | | | -| MONDO:0868463 | hypocomplementemic urticarial vasculitis | GARD:6725 | MONDO:equivalentTo | Hypocomplementemic urticarial vasculitis | | | -| MONDO:0868464 | hypokalemic periodic paralysis | GARD:6729 | MONDO:equivalentTo | Hypokalemic periodic paralysis | | | -| MONDO:0868465 | hypophosphatasia | GARD:6734 | MONDO:equivalentTo | Hypophosphatasia | | | -| MONDO:0868466 | hypophosphatemic rickets | GARD:6735 | MONDO:equivalentTo | Hypophosphatemic rickets | | | -| MONDO:0868467 | hypoplastic left heart syndrome | GARD:6739 | MONDO:equivalentTo | Hypoplastic left heart syndrome | | | -| MONDO:0868468 | mucolipidosis type ii | GARD:6749 | MONDO:equivalentTo | Mucolipidosis type II | | | -| MONDO:0868469 | idiopathic pulmonary artery dilatation | GARD:6757 | MONDO:equivalentTo | Idiopathic pulmonary artery dilatation | | | -| MONDO:0868470 | hereditary neurocutaneous malformation | GARD:676 | MONDO:equivalentTo | Hereditary neurocutaneous malformation | | | -| MONDO:0868471 | idiopathic juvenile osteoporosis | GARD:6760 | MONDO:equivalentTo | Idiopathic juvenile osteoporosis | | | -| MONDO:0868472 | idiopathic pulmonary hemosiderosis | GARD:6763 | MONDO:equivalentTo | Idiopathic pulmonary hemosiderosis | | | -| MONDO:0868473 | incontinentia pigmenti | GARD:6778 | MONDO:equivalentTo | Incontinentia pigmenti | | | -| MONDO:0868474 | infantile apnea | GARD:6779 | MONDO:equivalentTo | Infantile apnea | | | -| MONDO:0868475 | fuchs heterochromic iridocyclitis | GARD:6791 | MONDO:equivalentTo | Fuchs heterochromic iridocyclitis | | | -| MONDO:0868476 | isaacs syndrome | GARD:6793 | MONDO:equivalentTo | Isaacs syndrome | | | -| MONDO:0868477 | right sided atrial isomerism | GARD:6795 | MONDO:equivalentTo | Right sided atrial isomerism | | | -| MONDO:0868478 | jackson-weiss syndrome | GARD:6796 | MONDO:equivalentTo | Jackson-Weiss syndrome | | | -| MONDO:0868479 | japanese encephalitis | GARD:6797 | MONDO:equivalentTo | Japanese encephalitis | | | -| MONDO:0868480 | autosomal recessive spondylocostal dysostosis | GARD:6798 | MONDO:equivalentTo | Autosomal recessive spondylocostal dysostosis | | | -| MONDO:0868481 | hypoglossia-hypodactyly syndrome | GARD:68 | MONDO:equivalentTo | Hypoglossia-hypodactyly syndrome | | | -| MONDO:0868482 | autosomal dominant hyper-ige syndrome | GARD:6800 | MONDO:equivalentTo | Autosomal dominant hyper-IgE syndrome | | | -| MONDO:0868483 | spinocerebellar ataxia type 3 | GARD:6801 | MONDO:equivalentTo | Spinocerebellar ataxia type 3 | | | -| MONDO:0868484 | joubert syndrome | GARD:6802 | MONDO:equivalentTo | Joubert syndrome | | | -| MONDO:0868485 | juvenile dermatomyositis | GARD:6805 | MONDO:equivalentTo | Juvenile dermatomyositis | | | -| MONDO:0868486 | infantile systemic hyalinosis | GARD:6807 | MONDO:equivalentTo | Infantile systemic hyalinosis | | | -| MONDO:0868487 | juvenile myoclonic epilepsy | GARD:6808 | MONDO:equivalentTo | Juvenile myoclonic epilepsy | | | -| MONDO:0868488 | kabuki syndrome | GARD:6810 | MONDO:equivalentTo | Kabuki syndrome | | | -| MONDO:0868489 | kaposi sarcoma | GARD:6814 | MONDO:equivalentTo | Kaposi sarcoma | | | -| MONDO:0868490 | kawasaki disease | GARD:6816 | MONDO:equivalentTo | Kawasaki disease | | | -| MONDO:0868491 | kearns-sayre syndrome | GARD:6817 | MONDO:equivalentTo | Kearns-Sayre syndrome | | | -| MONDO:0868492 | kennedy disease | GARD:6818 | MONDO:equivalentTo | Kennedy disease | | | -| MONDO:0868493 | muir-torre syndrome | GARD:6821 | MONDO:equivalentTo | Muir-Torre syndrome | | | -| MONDO:0868494 | keratosis follicularis spinulosa decalvans | GARD:6829 | MONDO:equivalentTo | Keratosis follicularis spinulosa decalvans | | | -| MONDO:0868495 | angiostrongyliasis | GARD:683 | MONDO:equivalentTo | Angiostrongyliasis | | | -| MONDO:0868496 | bilirubin encephalopathy | GARD:6830 | MONDO:equivalentTo | Bilirubin encephalopathy | | | -| MONDO:0868497 | kikuchi-fujimoto disease | GARD:6834 | MONDO:equivalentTo | Kikuchi-Fujimoto disease | | | -| MONDO:0868498 | kimura disease | GARD:6835 | MONDO:equivalentTo | Kimura disease | | | -| MONDO:0868499 | klüver-bucy syndrome | GARD:6840 | MONDO:equivalentTo | Klüver-Bucy syndrome | | | -| MONDO:0868500 | kniest dysplasia | GARD:6841 | MONDO:equivalentTo | Kniest dysplasia | | | -| MONDO:0868501 | osteochondrosis of the tarsal bone | GARD:6842 | MONDO:equivalentTo | Osteochondrosis of the tarsal bone | | | -| MONDO:0868502 | krabbe disease | GARD:6844 | MONDO:equivalentTo | Krabbe disease | | | -| MONDO:0868503 | cln4a disease | GARD:6845 | MONDO:equivalentTo | CLN4A disease | | | -| MONDO:0868504 | lacrimoauriculodentodigital syndrome | GARD:6848 | MONDO:equivalentTo | Lacrimoauriculodentodigital syndrome | | | -| MONDO:0868505 | aniridia-absent patella syndrome | GARD:685 | MONDO:equivalentTo | Aniridia-absent patella syndrome | | | -| MONDO:0868506 | lambert-eaton myasthenic syndrome | GARD:6851 | MONDO:equivalentTo | Lambert-Eaton myasthenic syndrome | | | -| MONDO:0868507 | landau-kleffner syndrome | GARD:6855 | MONDO:equivalentTo | Landau-Kleffner syndrome | | | -| MONDO:0868508 | langerhans cell histiocytosis | GARD:6858 | MONDO:equivalentTo | Langerhans cell histiocytosis | | | -| MONDO:0868509 | laron syndrome | GARD:6859 | MONDO:equivalentTo | Laron syndrome | | | -| MONDO:0868510 | larsen syndrome | GARD:6860 | MONDO:equivalentTo | Larsen syndrome | | | -| MONDO:0868511 | congenital laryngomalacia | GARD:6865 | MONDO:equivalentTo | Congenital laryngomalacia | | | -| MONDO:0868512 | bardet-biedl syndrome | GARD:6866 | MONDO:equivalentTo | Bardet-Biedl syndrome | | | -| MONDO:0868513 | long chain 3-hydroxyacyl-coa dehydrogenase deficiency | GARD:6867 | MONDO:equivalentTo | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | | | -| MONDO:0868514 | leber hereditary optic neuropathy | GARD:6870 | MONDO:equivalentTo | Leber hereditary optic neuropathy | | | -| MONDO:0868515 | ledderhose disease | GARD:6873 | MONDO:equivalentTo | Ledderhose disease | | | -| MONDO:0868516 | legg-calvé-perthes disease | GARD:6874 | MONDO:equivalentTo | Legg-Calvé-Perthes disease | | | -| MONDO:0868517 | legionnaires disease | GARD:6876 | MONDO:equivalentTo | Legionnaires disease | | | -| MONDO:0868518 | leigh syndrome | GARD:6877 | MONDO:equivalentTo | Leigh syndrome | | | -| MONDO:0868519 | erythroderma desquamativum | GARD:6878 | MONDO:equivalentTo | Erythroderma desquamativum | | | -| MONDO:0868520 | leiomyosarcoma | GARD:6880 | MONDO:equivalentTo | Leiomyosarcoma | | | -| MONDO:0868521 | leishmaniasis | GARD:6881 | MONDO:equivalentTo | Leishmaniasis | | | -| MONDO:0868522 | lemierre syndrome | GARD:6882 | MONDO:equivalentTo | Lemierre syndrome | | | -| MONDO:0868523 | leprechaunism | GARD:6885 | MONDO:equivalentTo | Leprechaunism | | | -| MONDO:0868524 | leprosy | GARD:6886 | MONDO:equivalentTo | Leprosy | | | -| MONDO:0868525 | aniridia-ptosis-intellectual disability-familial obesity syndrome | GARD:689 | MONDO:equivalentTo | Aniridia-ptosis-intellectual disability-familial obesity syndrome | | | -| MONDO:0868526 | leukocyte adhesion deficiency type i | GARD:6893 | MONDO:equivalentTo | Leukocyte adhesion deficiency type I | | | -| MONDO:0868527 | leukodystrophy | GARD:6895 | MONDO:equivalentTo | Leukodystrophy | | | -| MONDO:0868528 | hantavirus pulmonary syndrome | GARD:69 | MONDO:equivalentTo | Hantavirus pulmonary syndrome | | | -| MONDO:0868529 | aniridia-renal agenesis-psychomotor retardation syndrome | GARD:690 | MONDO:equivalentTo | Aniridia-renal agenesis-psychomotor retardation syndrome | | | -| MONDO:0868530 | lhermitte-duclos disease | GARD:6901 | MONDO:equivalentTo | Lhermitte-Duclos disease | | | -| MONDO:0868531 | li-fraumeni syndrome | GARD:6902 | MONDO:equivalentTo | Li-Fraumeni syndrome | | | -| MONDO:0868532 | light chain deposition disease | GARD:6906 | MONDO:equivalentTo | Light chain deposition disease | | | -| MONDO:0868533 | limb-girdle muscular dystrophy | GARD:6907 | MONDO:equivalentTo | Limb-girdle muscular dystrophy | | | -| MONDO:0868534 | liposarcoma | GARD:6913 | MONDO:equivalentTo | Liposarcoma | | | -| MONDO:0868535 | lissencephaly type 1 due to doublecortin gene mutation | GARD:6914 | MONDO:equivalentTo | Lissencephaly type 1 due to doublecortin gene mutation | | | -| MONDO:0868536 | listeriosis | GARD:6915 | MONDO:equivalentTo | Listeriosis | | | -| MONDO:0868537 | locked-in syndrome | GARD:6919 | MONDO:equivalentTo | Locked-in syndrome | | | -| MONDO:0868538 | anisakiasis | GARD:693 | MONDO:equivalentTo | Anisakiasis | | | -| MONDO:0868539 | jessner lymphocytic infiltration of the skin | GARD:6940 | MONDO:equivalentTo | Jessner lymphocytic infiltration of the skin | | | -| MONDO:0868540 | lymphomatoid granulomatosis | GARD:6943 | MONDO:equivalentTo | Lymphomatoid granulomatosis | | | -| MONDO:0868541 | lymphomatoid papulosis | GARD:6944 | MONDO:equivalentTo | Lymphomatoid papulosis | | | -| MONDO:0868542 | megalencephaly-capillary malformation-polymicrogyria syndrome | GARD:6950 | MONDO:equivalentTo | Megalencephaly-capillary malformation-polymicrogyria syndrome | | | -| MONDO:0868543 | macrodactyly of toes | GARD:6951 | MONDO:equivalentTo | Macrodactyly of toes | | | -| MONDO:0868544 | macular corneal dystrophy | GARD:6953 | MONDO:equivalentTo | Macular corneal dystrophy | | | -| MONDO:0868545 | sporadic creutzfeldt-jakob disease | GARD:6956 | MONDO:equivalentTo | Sporadic Creutzfeldt-Jakob disease | | | -| MONDO:0868546 | multiple symmetric lipomatosis | GARD:6957 | MONDO:equivalentTo | Multiple symmetric lipomatosis | | | -| MONDO:0868547 | maffucci syndrome | GARD:6958 | MONDO:equivalentTo | Maffucci syndrome | | | -| MONDO:0868548 | mal de débarquement | GARD:6959 | MONDO:equivalentTo | Mal de débarquement | | | -| MONDO:0868549 | ankyloblepharon filiforme adnatum-cleft palate syndrome | GARD:696 | MONDO:equivalentTo | Ankyloblepharon filiforme adnatum-cleft palate syndrome | | | -| MONDO:0868550 | malakoplakia | GARD:6960 | MONDO:equivalentTo | Malakoplakia | | | -| MONDO:0868551 | malaria | GARD:6961 | MONDO:equivalentTo | Malaria | | | -| MONDO:0868552 | undifferentiated pleomorphic sarcoma | GARD:6963 | MONDO:equivalentTo | Undifferentiated pleomorphic sarcoma | | | -| MONDO:0868553 | malignant hyperthermia of anesthesia | GARD:6964 | MONDO:equivalentTo | Malignant hyperthermia of anesthesia | | | -| MONDO:0868554 | alpha-mannosidosis | GARD:6968 | MONDO:equivalentTo | Alpha-mannosidosis | | | -| MONDO:0868555 | mantle cell lymphoma | GARD:6969 | MONDO:equivalentTo | Mantle cell lymphoma | | | -| MONDO:0868556 | ankyloblepharon filiforme adnatum-imperforate anus syndrome | GARD:697 | MONDO:equivalentTo | Ankyloblepharon filiforme adnatum-imperforate anus syndrome | | | -| MONDO:0868557 | marchiafava-bignami disease | GARD:6971 | MONDO:equivalentTo | Marchiafava-Bignami disease | | | -| MONDO:0868558 | marcus-gunn syndrome | GARD:6972 | MONDO:equivalentTo | Marcus-Gunn syndrome | | | -| MONDO:0868559 | marden-walker syndrome | GARD:6973 | MONDO:equivalentTo | Marden-Walker syndrome | | | -| MONDO:0868560 | marfan syndrome type 1 | GARD:6975 | MONDO:equivalentTo | Marfan syndrome type 1 | | | -| MONDO:0868561 | marshall syndrome | GARD:6984 | MONDO:equivalentTo | Marshall syndrome | | | -| MONDO:0868562 | marshall-smith syndrome | GARD:6985 | MONDO:equivalentTo | Marshall-Smith syndrome | | | -| MONDO:0868563 | masa syndrome | GARD:6986 | MONDO:equivalentTo | MASA syndrome | | | -| MONDO:0868564 | mastocytosis | GARD:6987 | MONDO:equivalentTo | Mastocytosis | | | -| MONDO:0868565 | maxillonasal dysplasia | GARD:6992 | MONDO:equivalentTo | Maxillonasal dysplasia | | | -| MONDO:0868566 | mccune-albright syndrome | GARD:6995 | MONDO:equivalentTo | McCune-Albright syndrome | | | -| MONDO:0868567 | cartilage-hair hypoplasia | GARD:6996 | MONDO:equivalentTo | Cartilage-hair hypoplasia | | | -| MONDO:0868568 | acromicric dysplasia | GARD:7 | MONDO:equivalentTo | Acromicric dysplasia | | | -| MONDO:0868569 | kasabach-merritt syndrome | GARD:70 | MONDO:equivalentTo | Kasabach-Merritt syndrome | | | -| MONDO:0868570 | muc1-related autosomal dominant tubulointerstitial kidney disease | GARD:7002 | MONDO:equivalentTo | MUC1-related autosomal dominant tubulointerstitial kidney disease | | | -| MONDO:0868571 | medullary thyroid carcinoma | GARD:7004 | MONDO:equivalentTo | Medullary thyroid carcinoma | | | -| MONDO:0868572 | medulloblastoma | GARD:7005 | MONDO:equivalentTo | Medulloblastoma | | | -| MONDO:0868573 | imerslund-gräsbeck syndrome | GARD:7006 | MONDO:equivalentTo | Imerslund-Gräsbeck syndrome | | | -| MONDO:0868574 | blepharospasm-oromandibular dystonia syndrome | GARD:7008 | MONDO:equivalentTo | Blepharospasm-oromandibular dystonia syndrome | | | -| MONDO:0868575 | melas | GARD:7009 | MONDO:equivalentTo | MELAS | | | -| MONDO:0868576 | dental ankylosis | GARD:701 | MONDO:equivalentTo | Dental ankylosis | | | -| MONDO:0868577 | melkersson-rosenthal syndrome | GARD:7010 | MONDO:equivalentTo | Melkersson-Rosenthal syndrome | | | -| MONDO:0868578 | melnick-needles syndrome | GARD:7011 | MONDO:equivalentTo | Melnick-Needles syndrome | | | -| MONDO:0868579 | meningioma | GARD:7015 | MONDO:equivalentTo | Meningioma | | | -| MONDO:0868580 | mercury poisoning | GARD:7021 | MONDO:equivalentTo | Mercury poisoning | | | -| MONDO:0868581 | pleural mesothelioma | GARD:7026 | MONDO:equivalentTo | Pleural mesothelioma | | | -| MONDO:0868582 | metaphyseal chondrodysplasia, schmid type | GARD:7029 | MONDO:equivalentTo | Metaphyseal chondrodysplasia, Schmid type | | | -| MONDO:0868583 | multiple osteochondromas | GARD:7035 | MONDO:equivalentTo | Multiple osteochondromas | | | -| MONDO:0868584 | microvillus inclusion disease | GARD:7039 | MONDO:equivalentTo | Microvillus inclusion disease | | | -| MONDO:0868585 | extranodal nasal nk/t cell lymphoma | GARD:7041 | MONDO:equivalentTo | Extranodal nasal NK/T cell lymphoma | | | -| MONDO:0868586 | igg4-related dacryoadenitis and sialadenitis | GARD:7043 | MONDO:equivalentTo | IgG4-related dacryoadenitis and sialadenitis | | | -| MONDO:0868587 | annular pancreas | GARD:705 | MONDO:equivalentTo | Annular pancreas | | | -| MONDO:0868588 | mixed connective tissue disease | GARD:7051 | MONDO:equivalentTo | Mixed connective tissue disease | | | -| MONDO:0868589 | localized scleroderma | GARD:7058 | MONDO:equivalentTo | Localized scleroderma | | | -| MONDO:0868590 | moyamoya disease | GARD:7064 | MONDO:equivalentTo | Moyamoya disease | | | -| MONDO:0868591 | mucopolysaccharidosis | GARD:7065 | MONDO:equivalentTo | Mucopolysaccharidosis | | | -| MONDO:0868592 | sanfilippo syndrome type a | GARD:7071 | MONDO:equivalentTo | Sanfilippo syndrome type A | | | -| MONDO:0868593 | sanfilippo syndrome type b | GARD:7072 | MONDO:equivalentTo | Sanfilippo syndrome type B | | | -| MONDO:0868594 | sanfilippo syndrome type c | GARD:7073 | MONDO:equivalentTo | Sanfilippo syndrome type C | | | -| MONDO:0868595 | sanfilippo syndrome type d | GARD:7074 | MONDO:equivalentTo | Sanfilippo syndrome type D | | | -| MONDO:0868596 | multiple system atrophy | GARD:7079 | MONDO:equivalentTo | Multiple system atrophy | | | -| MONDO:0868597 | mucopolysaccharidosis type 6 | GARD:7095 | MONDO:equivalentTo | Mucopolysaccharidosis type 6 | | | -| MONDO:0868598 | mucopolysaccharidosis type 7 | GARD:7096 | MONDO:equivalentTo | Mucopolysaccharidosis type 7 | | | -| MONDO:0868599 | muenke syndrome | GARD:7097 | MONDO:equivalentTo | Muenke syndrome | | | -| MONDO:0868600 | anonychia-onychodystrophy syndrome | GARD:710 | MONDO:equivalentTo | Anonychia-onychodystrophy syndrome | | | -| MONDO:0868601 | müllerian aplasia | GARD:7100 | MONDO:equivalentTo | Müllerian aplasia | | | -| MONDO:0868602 | multicentric reticulohistiocytosis | GARD:7103 | MONDO:equivalentTo | Multicentric reticulohistiocytosis | | | -| MONDO:0868603 | multiple myeloma | GARD:7108 | MONDO:equivalentTo | Multiple myeloma | | | -| MONDO:0868604 | autosomal recessive multiple pterygium syndrome | GARD:7111 | MONDO:equivalentTo | Autosomal recessive multiple pterygium syndrome | | | -| MONDO:0868605 | myasthenia gravis | GARD:7122 | MONDO:equivalentTo | Myasthenia gravis | | | -| MONDO:0868606 | matthew-wood syndrome | GARD:713 | MONDO:equivalentTo | Matthew-Wood syndrome | | | -| MONDO:0868607 | myelodysplastic syndrome | GARD:7132 | MONDO:equivalentTo | Myelodysplastic syndrome | | | -| MONDO:0868608 | myoclonus-dystonia syndrome | GARD:7139 | MONDO:equivalentTo | Myoclonus-dystonia syndrome | | | -| MONDO:0868609 | progressive myoclonic epilepsy | GARD:7140 | MONDO:equivalentTo | Progressive myoclonic epilepsy | | | -| MONDO:0868610 | merrf | GARD:7144 | MONDO:equivalentTo | MERRF | | | -| MONDO:0868611 | inflammatory myofibroblastic tumor | GARD:7146 | MONDO:equivalentTo | Inflammatory myofibroblastic tumor | | | -| MONDO:0868612 | hyaline body myopathy | GARD:7148 | MONDO:equivalentTo | Hyaline body myopathy | | | -| MONDO:0868613 | myxoid/round cell liposarcoma | GARD:7157 | MONDO:equivalentTo | Myxoid/round cell liposarcoma | | | -| MONDO:0868614 | hyperammonemia due to n-acetylglutamate synthase deficiency | GARD:7158 | MONDO:equivalentTo | Hyperammonemia due to N-acetylglutamate synthase deficiency | | | -| MONDO:0868615 | nail-patella syndrome | GARD:7160 | MONDO:equivalentTo | Nail-patella syndrome | | | -| MONDO:0868616 | nance-horan syndrome | GARD:7161 | MONDO:equivalentTo | Nance-Horan syndrome | | | -| MONDO:0868617 | narcolepsy type 1 | GARD:7162 | MONDO:equivalentTo | Narcolepsy type 1 | | | -| MONDO:0868618 | nasopharyngeal carcinoma | GARD:7163 | MONDO:equivalentTo | Nasopharyngeal carcinoma | | | -| MONDO:0868619 | gorlin syndrome | GARD:7166 | MONDO:equivalentTo | Gorlin syndrome | | | -| MONDO:0868620 | anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome | GARD:717 | MONDO:equivalentTo | Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome | | | -| MONDO:0868621 | nelson syndrome | GARD:7170 | MONDO:equivalentTo | Nelson syndrome | | | -| MONDO:0868622 | childhood-onset nemaline myopathy | GARD:7171 | MONDO:equivalentTo | Childhood-onset nemaline myopathy | | | -| MONDO:0868623 | neonatal hemochromatosis | GARD:7172 | MONDO:equivalentTo | Neonatal hemochromatosis | | | -| MONDO:0868624 | nephrogenic diabetes insipidus | GARD:7178 | MONDO:equivalentTo | Nephrogenic diabetes insipidus | | | -| MONDO:0868625 | benign peripheral nerve sheath tumor | GARD:7180 | MONDO:equivalentTo | Benign peripheral nerve sheath tumor | | | -| MONDO:0868626 | netherton syndrome | GARD:7182 | MONDO:equivalentTo | Netherton syndrome | | | -| MONDO:0868627 | sialidosis type 2 | GARD:7183 | MONDO:equivalentTo | Sialidosis type 2 | | | -| MONDO:0868628 | neuroblastoma | GARD:7185 | MONDO:equivalentTo | Neuroblastoma | | | -| MONDO:0868629 | neurocutaneous melanocytosis | GARD:7186 | MONDO:equivalentTo | Neurocutaneous melanocytosis | | | -| MONDO:0868630 | anophthalmia plus syndrome | GARD:719 | MONDO:equivalentTo | Anophthalmia plus syndrome | | | -| MONDO:0868631 | neurofibroma | GARD:7191 | MONDO:equivalentTo | Neurofibroma | | | -| MONDO:0868632 | neurofibromatosis type 2 | GARD:7193 | MONDO:equivalentTo | Neurofibromatosis type 2 | | | -| MONDO:0868633 | neuroleptic malignant syndrome | GARD:7195 | MONDO:equivalentTo | Neuroleptic malignant syndrome | | | -| MONDO:0868634 | thymic aplasia | GARD:7201 | MONDO:equivalentTo | Thymic aplasia | | | -| MONDO:0868635 | infantile neurovisceral acid sphingomyelinase deficiency | GARD:7206 | MONDO:equivalentTo | Infantile neurovisceral acid sphingomyelinase deficiency | | | -| MONDO:0868636 | niemann-pick disease type c | GARD:7207 | MONDO:equivalentTo | Niemann-Pick disease type C | | | -| MONDO:0868637 | nocardiosis | GARD:7210 | MONDO:equivalentTo | Nocardiosis | | | -| MONDO:0868638 | glycine encephalopathy | GARD:7219 | MONDO:equivalentTo | Glycine encephalopathy | | | -| MONDO:0868639 | microphthalmia with limb anomalies | GARD:722 | MONDO:equivalentTo | Microphthalmia with limb anomalies | | | -| MONDO:0868640 | milroy disease | GARD:7220 | MONDO:equivalentTo | Milroy disease | | | -| MONDO:0868641 | norrie disease | GARD:7224 | MONDO:equivalentTo | Norrie disease | | | -| MONDO:0868642 | lesch-nyhan syndrome | GARD:7226 | MONDO:equivalentTo | Lesch-Nyhan syndrome | | | -| MONDO:0868643 | oculodentodigital dysplasia | GARD:7239 | MONDO:equivalentTo | Oculodentodigital dysplasia | | | -| MONDO:0868644 | oculopharyngeal muscular dystrophy | GARD:7245 | MONDO:equivalentTo | Oculopharyngeal muscular dystrophy | | | -| MONDO:0868645 | ollier disease | GARD:7251 | MONDO:equivalentTo | Ollier disease | | | -| MONDO:0868646 | onchocerciasis | GARD:7252 | MONDO:equivalentTo | Onchocerciasis | | | -| MONDO:0868647 | oral submucous fibrosis | GARD:7264 | MONDO:equivalentTo | Oral submucous fibrosis | | | -| MONDO:0868648 | carbamoyl-phosphate synthetase 1 deficiency | GARD:7269 | MONDO:equivalentTo | Carbamoyl-phosphate synthetase 1 deficiency | | | -| MONDO:0868649 | osteosarcoma | GARD:7284 | MONDO:equivalentTo | Osteosarcoma | | | -| MONDO:0868650 | ovarian cancer | GARD:7295 | MONDO:equivalentTo | Ovarian cancer | | | -| MONDO:0868651 | malignant mixed müllerian tumor of the ovary | GARD:7296 | MONDO:equivalentTo | Malignant mixed Müllerian tumor of the ovary | | | -| MONDO:0868652 | pachydermoperiostosis | GARD:7299 | MONDO:equivalentTo | Pachydermoperiostosis | | | -| MONDO:0868653 | x-linked hyper-igm syndrome | GARD:73 | MONDO:equivalentTo | X-linked hyper-IgM syndrome | | | -| MONDO:0868654 | anti-hla hyperimmunization | GARD:730 | MONDO:equivalentTo | Anti-HLA hyperimmunization | | | -| MONDO:0868655 | paget disease of the nipple | GARD:7303 | MONDO:equivalentTo | Paget disease of the nipple | | | -| MONDO:0868656 | pallister-hall syndrome | GARD:7305 | MONDO:equivalentTo | Pallister-Hall syndrome | | | -| MONDO:0868657 | congenital alpha2-antiplasmin deficiency | GARD:731 | MONDO:equivalentTo | Congenital alpha2-antiplasmin deficiency | | | -| MONDO:0868658 | pandas | GARD:7312 | MONDO:equivalentTo | PANDAS | | | -| MONDO:0868659 | localized lichen myxedematosus | GARD:7321 | MONDO:equivalentTo | Localized lichen myxedematosus | | | -| MONDO:0868660 | paracoccidioidomycosis | GARD:7323 | MONDO:equivalentTo | Paracoccidioidomycosis | | | -| MONDO:0868661 | paramyotonia congenita of von eulenburg | GARD:7325 | MONDO:equivalentTo | Paramyotonia congenita of Von Eulenburg | | | -| MONDO:0868662 | paraneoplastic neurologic syndrome | GARD:7326 | MONDO:equivalentTo | Paraneoplastic neurologic syndrome | | | -| MONDO:0868663 | parathyroid carcinoma | GARD:7329 | MONDO:equivalentTo | Parathyroid carcinoma | | | -| MONDO:0868664 | paroxysmal cold hemoglobinuria | GARD:7335 | MONDO:equivalentTo | Paroxysmal cold hemoglobinuria | | | -| MONDO:0868665 | paroxysmal nocturnal hemoglobinuria | GARD:7337 | MONDO:equivalentTo | Paroxysmal nocturnal hemoglobinuria | | | -| MONDO:0868666 | progressive hemifacial atrophy | GARD:7338 | MONDO:equivalentTo | Progressive hemifacial atrophy | | | -| MONDO:0868667 | trisomy 13 | GARD:7341 | MONDO:equivalentTo | Trisomy 13 | | | -| MONDO:0868668 | pearson syndrome | GARD:7343 | MONDO:equivalentTo | Pearson syndrome | | | -| MONDO:0868669 | peeling skin syndrome | GARD:7347 | MONDO:equivalentTo | Peeling skin syndrome | | | -| MONDO:0868670 | antisynthetase syndrome | GARD:735 | MONDO:equivalentTo | Antisynthetase syndrome | | | -| MONDO:0868671 | pemphigus foliaceus | GARD:7354 | MONDO:equivalentTo | Pemphigus foliaceus | | | -| MONDO:0868672 | pemphigus vulgaris | GARD:7355 | MONDO:equivalentTo | Pemphigus vulgaris | | | -| MONDO:0868673 | pentalogy of cantrell | GARD:7359 | MONDO:equivalentTo | Pentalogy of Cantrell | | | -| MONDO:0868674 | polyarteritis nodosa | GARD:7360 | MONDO:equivalentTo | Polyarteritis nodosa | | | -| MONDO:0868675 | peters anomaly | GARD:7377 | MONDO:equivalentTo | Peters anomaly | | | -| MONDO:0868676 | peutz-jeghers syndrome | GARD:7378 | MONDO:equivalentTo | Peutz-Jeghers syndrome | | | -| MONDO:0868677 | congenital aortopulmonary window | GARD:738 | MONDO:equivalentTo | Congenital aortopulmonary window | | | -| MONDO:0868678 | pfeiffer syndrome | GARD:7380 | MONDO:equivalentTo | Pfeiffer syndrome | | | -| MONDO:0868679 | liddle syndrome | GARD:7381 | MONDO:equivalentTo | Liddle syndrome | | | -| MONDO:0868680 | phenylketonuria | GARD:7383 | MONDO:equivalentTo | Phenylketonuria | | | -| MONDO:0868681 | sporadic pheochromocytoma/secreting paraganglioma | GARD:7385 | MONDO:equivalentTo | Sporadic pheochromocytoma/secreting paraganglioma | | | -| MONDO:0868682 | roberts syndrome | GARD:7387 | MONDO:equivalentTo | Roberts syndrome | | | -| MONDO:0868683 | glycogen storage disease due to phosphoglycerate kinase 1 deficiency | GARD:7389 | MONDO:equivalentTo | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | | | -| MONDO:0868684 | aortic arch anomaly-facial dysmorphism-intellectual disability syndrome | GARD:739 | MONDO:equivalentTo | Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome | | | -| MONDO:0868685 | behavioral variant of frontotemporal dementia | GARD:7392 | MONDO:equivalentTo | Behavioral variant of frontotemporal dementia | | | -| MONDO:0868686 | tenosynovial giant cell tumor | GARD:7396 | MONDO:equivalentTo | Tenosynovial giant cell tumor | | | -| MONDO:0868687 | isolated growth hormone deficiency type ia | GARD:7399 | MONDO:equivalentTo | Isolated growth hormone deficiency type IA | | | -| MONDO:0868688 | aortic arch interruption | GARD:740 | MONDO:equivalentTo | Aortic arch interruption | | | -| MONDO:0868689 | pityriasis rubra pilaris | GARD:7401 | MONDO:equivalentTo | Pityriasis rubra pilaris | | | -| MONDO:0868690 | placental site trophoblastic tumor | GARD:7403 | MONDO:equivalentTo | Placental site trophoblastic tumor | | | -| MONDO:0868691 | aortic arch defects | GARD:741 | MONDO:equivalentTo | Aortic arch defects | | | -| MONDO:0868692 | poems syndrome | GARD:7411 | MONDO:equivalentTo | POEMS syndrome | | | -| MONDO:0868693 | poland syndrome | GARD:7412 | MONDO:equivalentTo | Poland syndrome | | | -| MONDO:0868694 | poliomyelitis | GARD:7413 | MONDO:equivalentTo | Poliomyelitis | | | -| MONDO:0868695 | cutaneous polyarteritis nodosa | GARD:7415 | MONDO:equivalentTo | Cutaneous polyarteritis nodosa | | | -| MONDO:0868696 | relapsing polychondritis | GARD:7417 | MONDO:equivalentTo | Relapsing polychondritis | | | -| MONDO:0868697 | polycythemia vera | GARD:7422 | MONDO:equivalentTo | Polycythemia vera | | | -| MONDO:0868698 | polymyositis | GARD:7425 | MONDO:equivalentTo | Polymyositis | | | -| MONDO:0868699 | supravalvular aortic stenosis | GARD:743 | MONDO:equivalentTo | Supravalvular aortic stenosis | | | -| MONDO:0868700 | porencephaly | GARD:7430 | MONDO:equivalentTo | Porencephaly | | | -| MONDO:0868701 | porphyria cutanea tarda | GARD:7433 | MONDO:equivalentTo | Porphyria cutanea tarda | | | -| MONDO:0868702 | posterior urethral valve | GARD:7439 | MONDO:equivalentTo | Posterior urethral valve | | | -| MONDO:0868703 | rare precocious puberty | GARD:7446 | MONDO:equivalentTo | Rare precocious puberty | | | -| MONDO:0868704 | primary biliary cholangitis | GARD:7459 | MONDO:equivalentTo | Primary biliary cholangitis | | | -| MONDO:0868705 | hutchinson-gilford progeria syndrome | GARD:7467 | MONDO:equivalentTo | Hutchinson-Gilford progeria syndrome | | | -| MONDO:0868706 | progressive multifocal leukoencephalopathy | GARD:7468 | MONDO:equivalentTo | Progressive multifocal leukoencephalopathy | | | -| MONDO:0868707 | progressive supranuclear palsy | GARD:7471 | MONDO:equivalentTo | Progressive supranuclear palsy | | | -| MONDO:0868708 | prolidase deficiency | GARD:7473 | MONDO:equivalentTo | Prolidase deficiency | | | -| MONDO:0868709 | proteus syndrome | GARD:7475 | MONDO:equivalentTo | Proteus syndrome | | | -| MONDO:0868710 | prune belly syndrome | GARD:7479 | MONDO:equivalentTo | Prune belly syndrome | | | -| MONDO:0868711 | aphalangy-syndactyly-microcephaly syndrome | GARD:748 | MONDO:equivalentTo | Aphalangy-syndactyly-microcephaly syndrome | | | -| MONDO:0868712 | butyrylcholinesterase deficiency | GARD:7482 | MONDO:equivalentTo | Butyrylcholinesterase deficiency | | | -| MONDO:0868713 | pseudohypoparathyroidism type 1a | GARD:7486 | MONDO:equivalentTo | Pseudohypoparathyroidism type 1A | | | -| MONDO:0868714 | pseudomyxoma peritonei | GARD:7488 | MONDO:equivalentTo | Pseudomyxoma peritonei | | | -| MONDO:0868715 | autoimmune pulmonary alveolar proteinosis | GARD:7499 | MONDO:equivalentTo | Autoimmune pulmonary alveolar proteinosis | | | -| MONDO:0868716 | pulmonary arterial hypertension | GARD:7501 | MONDO:equivalentTo | Pulmonary arterial hypertension | | | -| MONDO:0868717 | punctate inner choroidopathy | GARD:7503 | MONDO:equivalentTo | Punctate inner choroidopathy | | | -| MONDO:0868718 | pyoderma gangrenosum | GARD:7510 | MONDO:equivalentTo | Pyoderma gangrenosum | | | -| MONDO:0868719 | pyruvate carboxylase deficiency | GARD:7512 | MONDO:equivalentTo | Pyruvate carboxylase deficiency | | | -| MONDO:0868720 | pyruvate dehydrogenase deficiency | GARD:7513 | MONDO:equivalentTo | Pyruvate dehydrogenase deficiency | | | -| MONDO:0868721 | hemolytic anemia due to red cell pyruvate kinase deficiency | GARD:7514 | MONDO:equivalentTo | Hemolytic anemia due to red cell pyruvate kinase deficiency | | | -| MONDO:0868722 | q fever | GARD:7515 | MONDO:equivalentTo | Q fever | | | -| MONDO:0868723 | rabies | GARD:7516 | MONDO:equivalentTo | Rabies | | | -| MONDO:0868724 | ramon syndrome | GARD:7523 | MONDO:equivalentTo | Ramon syndrome | | | -| MONDO:0868725 | ramsay hunt syndrome | GARD:7525 | MONDO:equivalentTo | Ramsay Hunt syndrome | | | -| MONDO:0868726 | aplasia cutis congenita-intestinal lymphangiectasia syndrome | GARD:753 | MONDO:equivalentTo | Aplasia cutis congenita-intestinal lymphangiectasia syndrome | | | -| MONDO:0868727 | familial renal glucosuria | GARD:7548 | MONDO:equivalentTo | Familial renal glucosuria | | | -| MONDO:0868728 | primary renal tubular acidosis | GARD:7552 | MONDO:equivalentTo | Primary renal tubular acidosis | | | -| MONDO:0868729 | aplasia cutis-myopia syndrome | GARD:756 | MONDO:equivalentTo | Aplasia cutis-myopia syndrome | | | -| MONDO:0868730 | retinoblastoma | GARD:7563 | MONDO:equivalentTo | Retinoblastoma | | | -| MONDO:0868731 | reye syndrome | GARD:7570 | MONDO:equivalentTo | Reye syndrome | | | -| MONDO:0868732 | rhabdoid tumor | GARD:7572 | MONDO:equivalentTo | Rhabdoid tumor | | | -| MONDO:0868733 | familial dysautonomia | GARD:7581 | MONDO:equivalentTo | Familial dysautonomia | | | -| MONDO:0868734 | rocky mountain spotted fever | GARD:7585 | MONDO:equivalentTo | Rocky Mountain spotted fever | | | -| MONDO:0868735 | rosaï-dorfman disease | GARD:7588 | MONDO:equivalentTo | Rosaï-Dorfman disease | | | -| MONDO:0868736 | familial apolipoprotein c-ii deficiency | GARD:759 | MONDO:equivalentTo | Familial apolipoprotein C-II deficiency | | | -| MONDO:0868737 | rubinstein-taybi syndrome | GARD:7593 | MONDO:equivalentTo | Rubinstein-Taybi syndrome | | | -| MONDO:0868738 | saethre-chotzen syndrome | GARD:7598 | MONDO:equivalentTo | Saethre-Chotzen syndrome | | | -| MONDO:0868739 | hypohidrotic ectodermal dysplasia | GARD:76 | MONDO:equivalentTo | Hypohidrotic ectodermal dysplasia | | | -| MONDO:0868740 | sandhoff disease, infantile form | GARD:7604 | MONDO:equivalentTo | Sandhoff disease, infantile form | | | -| MONDO:0868741 | sapho syndrome | GARD:7606 | MONDO:equivalentTo | SAPHO syndrome | | | -| MONDO:0868742 | sarcoidosis | GARD:7607 | MONDO:equivalentTo | Sarcoidosis | | | -| MONDO:0868743 | x-linked scapuloperoneal muscular dystrophy | GARD:7608 | MONDO:equivalentTo | X-linked scapuloperoneal muscular dystrophy | | | -| MONDO:0868744 | familial scheuermann disease | GARD:7610 | MONDO:equivalentTo | Familial Scheuermann disease | | | -| MONDO:0868745 | autoimmune polyendocrinopathy type 2 | GARD:7611 | MONDO:equivalentTo | Autoimmune polyendocrinopathy type 2 | | | -| MONDO:0868746 | scleromyxedema | GARD:7615 | MONDO:equivalentTo | Scleromyxedema | | | -| MONDO:0868747 | kuru | GARD:7617 | MONDO:equivalentTo | Kuru | | | -| MONDO:0868748 | septo-optic dysplasia spectrum | GARD:7627 | MONDO:equivalentTo | Septo-optic dysplasia spectrum | | | -| MONDO:0868749 | severe combined immunodeficiency | GARD:7628 | MONDO:equivalentTo | Severe combined immunodeficiency | | | -| MONDO:0868750 | sézary syndrome | GARD:7629 | MONDO:equivalentTo | Sézary syndrome | | | -| MONDO:0868751 | sheehan syndrome | GARD:7630 | MONDO:equivalentTo | Sheehan syndrome | | | -| MONDO:0868752 | short syndrome | GARD:7633 | MONDO:equivalentTo | SHORT syndrome | | | -| MONDO:0868753 | sialidosis type 1 | GARD:7639 | MONDO:equivalentTo | Sialidosis type 1 | | | -| MONDO:0868754 | arachnodactyly-intellectual disability-dysmorphism syndrome | GARD:764 | MONDO:equivalentTo | Arachnodactyly-intellectual disability-dysmorphism syndrome | | | -| MONDO:0868755 | simpson-golabi-behmel syndrome | GARD:7649 | MONDO:equivalentTo | Simpson-Golabi-Behmel syndrome | | | -| MONDO:0868756 | sirenomelia | GARD:7652 | MONDO:equivalentTo | Sirenomelia | | | -| MONDO:0868757 | sitosterolemia | GARD:7653 | MONDO:equivalentTo | Sitosterolemia | | | -| MONDO:0868758 | sjögren-larsson syndrome | GARD:7654 | MONDO:equivalentTo | Sjögren-Larsson syndrome | | | -| MONDO:0868759 | sneddon syndrome | GARD:7664 | MONDO:equivalentTo | Sneddon syndrome | | | -| MONDO:0868760 | sphingolipidosis | GARD:7672 | MONDO:equivalentTo | Sphingolipidosis | | | -| MONDO:0868761 | isolated spina bifida | GARD:7673 | MONDO:equivalentTo | Isolated spina bifida | | | -| MONDO:0868762 | spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia | GARD:7687 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia | | | -| MONDO:0868763 | gerstmann-straussler-scheinker syndrome | GARD:7690 | MONDO:equivalentTo | Gerstmann-Straussler-Scheinker syndrome | | | -| MONDO:0868764 | sporotrichosis | GARD:7692 | MONDO:equivalentTo | Sporotrichosis | | | -| MONDO:0868765 | sprengel deformity | GARD:7693 | MONDO:equivalentTo | Sprengel deformity | | | -| MONDO:0868766 | succinic semialdehyde dehydrogenase deficiency | GARD:7695 | MONDO:equivalentTo | Succinic semialdehyde dehydrogenase deficiency | | | -| MONDO:0868767 | aromatic l-amino acid decarboxylase deficiency | GARD:770 | MONDO:equivalentTo | Aromatic L-amino acid decarboxylase deficiency | | | -| MONDO:0868768 | stevens-johnson syndrome | GARD:7700 | MONDO:equivalentTo | Stevens-Johnson syndrome | | | -| MONDO:0868769 | sturge-weber syndrome | GARD:7706 | MONDO:equivalentTo | Sturge-Weber syndrome | | | -| MONDO:0868770 | subacute sclerosing leukoencephalitis | GARD:7708 | MONDO:equivalentTo | Subacute sclerosing leukoencephalitis | | | -| MONDO:0868771 | congenital sucrase-isomaltase deficiency | GARD:7710 | MONDO:equivalentTo | Congenital sucrase-isomaltase deficiency | | | -| MONDO:0868772 | superior mesenteric artery syndrome | GARD:7712 | MONDO:equivalentTo | Superior mesenteric artery syndrome | | | -| MONDO:0868773 | susac syndrome | GARD:7713 | MONDO:equivalentTo | Susac syndrome | | | -| MONDO:0868774 | sydenham chorea | GARD:7716 | MONDO:equivalentTo | Sydenham chorea | | | -| MONDO:0868775 | synovial sarcoma | GARD:7721 | MONDO:equivalentTo | Synovial sarcoma | | | -| MONDO:0868776 | syringomyelia | GARD:7725 | MONDO:equivalentTo | Syringomyelia | | | -| MONDO:0868777 | takayasu arteritis | GARD:7730 | MONDO:equivalentTo | Takayasu arteritis | | | -| MONDO:0868778 | tangier disease | GARD:7731 | MONDO:equivalentTo | Tangier disease | | | -| MONDO:0868779 | tay-sachs disease | GARD:7737 | MONDO:equivalentTo | Tay-Sachs disease | | | -| MONDO:0868780 | arterial tortuosity syndrome | GARD:774 | MONDO:equivalentTo | Arterial tortuosity syndrome | | | -| MONDO:0868781 | stevens-johnson syndrome/toxic epidermal necrolysis spectrum | GARD:7743 | MONDO:equivalentTo | Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum | | | -| MONDO:0868782 | hyperphenylalaninemia due to tetrahydrobiopterin deficiency | GARD:7751 | MONDO:equivalentTo | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | | | -| MONDO:0868783 | tetrasomy x | GARD:7754 | MONDO:equivalentTo | Tetrasomy X | | | -| MONDO:0868784 | thoracic outlet syndrome | GARD:7759 | MONDO:equivalentTo | Thoracic outlet syndrome | | | -| MONDO:0868785 | arthrogryposis multiplex congenita | GARD:777 | MONDO:equivalentTo | Arthrogryposis multiplex congenita | | | -| MONDO:0868786 | tietz syndrome | GARD:7772 | MONDO:equivalentTo | Tietz syndrome | | | -| MONDO:0868787 | tolosa-hunt syndrome | GARD:7777 | MONDO:equivalentTo | Tolosa-Hunt syndrome | | | -| MONDO:0868788 | townes-brocks syndrome | GARD:7784 | MONDO:equivalentTo | Townes-Brocks syndrome | | | -| MONDO:0868789 | transient erythroblastopenia of childhood | GARD:7793 | MONDO:equivalentTo | Transient erythroblastopenia of childhood | | | -| MONDO:0868790 | transposition of the great arteries | GARD:7795 | MONDO:equivalentTo | Transposition of the great arteries | | | -| MONDO:0868791 | tricho-dento-osseous syndrome | GARD:7799 | MONDO:equivalentTo | Tricho-dento-osseous syndrome | | | -| MONDO:0868792 | trichorhinophalangeal syndrome type 2 | GARD:7801 | MONDO:equivalentTo | Trichorhinophalangeal syndrome type 2 | | | -| MONDO:0868793 | trigeminal neuralgia | GARD:7805 | MONDO:equivalentTo | Trigeminal neuralgia | | | -| MONDO:0868794 | african trypanosomiasis | GARD:7826 | MONDO:equivalentTo | African trypanosomiasis | | | -| MONDO:0868795 | tuberculosis | GARD:7827 | MONDO:equivalentTo | Tuberculosis | | | -| MONDO:0868796 | tuberculous meningitis | GARD:7828 | MONDO:equivalentTo | Tuberculous meningitis | | | -| MONDO:0868797 | tuberous sclerosis complex | GARD:7830 | MONDO:equivalentTo | Tuberous sclerosis complex | | | -| MONDO:0868798 | turner syndrome | GARD:7831 | MONDO:equivalentTo | Turner syndrome | | | -| MONDO:0868799 | disorder of urea cycle metabolism and ammonia detoxification | GARD:7837 | MONDO:equivalentTo | Disorder of urea cycle metabolism and ammonia detoxification | | | -| MONDO:0868800 | arthrogryposis-like hand anomaly-sensorineural deafness syndrome | GARD:784 | MONDO:equivalentTo | Arthrogryposis-like hand anomaly-sensorineural deafness syndrome | | | -| MONDO:0868801 | cutaneous mastocytosis | GARD:7842 | MONDO:equivalentTo | Cutaneous mastocytosis | | | -| MONDO:0868802 | usher syndrome | GARD:7843 | MONDO:equivalentTo | Usher syndrome | | | -| MONDO:0868803 | porphyria variegata | GARD:7848 | MONDO:equivalentTo | Porphyria variegata | | | -| MONDO:0868804 | cutaneous small vessel vasculitis | GARD:7851 | MONDO:equivalentTo | Cutaneous small vessel vasculitis | | | -| MONDO:0868805 | vernal keratoconjunctivitis | GARD:7854 | MONDO:equivalentTo | Vernal keratoconjunctivitis | | | -| MONDO:0868806 | von hippel-lindau disease | GARD:7855 | MONDO:equivalentTo | Von Hippel-Lindau disease | | | -| MONDO:0868807 | hemophagocytic syndrome associated with an infection | GARD:7857 | MONDO:equivalentTo | Hemophagocytic syndrome associated with an infection | | | -| MONDO:0868808 | distal arthrogryposis | GARD:786 | MONDO:equivalentTo | Distal arthrogryposis | | | -| MONDO:0868809 | pseudopseudohypoparathyroidism | GARD:7860 | MONDO:equivalentTo | Pseudopseudohypoparathyroidism | | | -| MONDO:0868810 | vogt-koyanagi-harada disease | GARD:7862 | MONDO:equivalentTo | Vogt-Koyanagi-Harada disease | | | -| MONDO:0868811 | glycogen storage disease due to glucose-6-phosphatase deficiency type ia | GARD:7864 | MONDO:equivalentTo | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia | | | -| MONDO:0868812 | neurofibromatosis type 1 | GARD:7866 | MONDO:equivalentTo | Neurofibromatosis type 1 | | | -| MONDO:0868813 | von willebrand disease | GARD:7867 | MONDO:equivalentTo | Von Willebrand disease | | | -| MONDO:0868814 | distal arthrogryposis type 1 | GARD:787 | MONDO:equivalentTo | Distal arthrogryposis type 1 | | | -| MONDO:0868815 | wagner disease | GARD:7871 | MONDO:equivalentTo | Wagner disease | | | -| MONDO:0868816 | waldenström macroglobulinemia | GARD:7872 | MONDO:equivalentTo | Waldenström macroglobulinemia | | | -| MONDO:0868817 | primary intestinal lymphangiectasia | GARD:7873 | MONDO:equivalentTo | Primary intestinal lymphangiectasia | | | -| MONDO:0868818 | autoimmune hemolytic anemia, warm type | GARD:7876 | MONDO:equivalentTo | Autoimmune hemolytic anemia, warm type | | | -| MONDO:0868819 | weaver syndrome | GARD:7878 | MONDO:equivalentTo | Weaver syndrome | | | -| MONDO:0868820 | nodular non-suppurative panniculitis | GARD:7879 | MONDO:equivalentTo | Nodular non-suppurative panniculitis | | | -| MONDO:0868821 | granulomatosis with polyangiitis | GARD:7880 | MONDO:equivalentTo | Granulomatosis with polyangiitis | | | -| MONDO:0868822 | leptospirosis | GARD:7881 | MONDO:equivalentTo | Leptospirosis | | | -| MONDO:0868823 | proximal spinal muscular atrophy type 1 | GARD:7883 | MONDO:equivalentTo | Proximal spinal muscular atrophy type 1 | | | -| MONDO:0868824 | werner syndrome | GARD:7885 | MONDO:equivalentTo | Werner syndrome | | | -| MONDO:0868825 | infantile spasms syndrome | GARD:7887 | MONDO:equivalentTo | Infantile spasms syndrome | | | -| MONDO:0868826 | western equine encephalitis | GARD:7888 | MONDO:equivalentTo | Western equine encephalitis | | | -| MONDO:0868827 | whipple disease | GARD:7889 | MONDO:equivalentTo | Whipple disease | | | -| MONDO:0868828 | intellectual disability-developmental delay-contractures syndrome | GARD:7890 | MONDO:equivalentTo | Intellectual disability-developmental delay-contractures syndrome | | | -| MONDO:0868829 | williams syndrome | GARD:7891 | MONDO:equivalentTo | Williams syndrome | | | -| MONDO:0868830 | nephroblastoma | GARD:7892 | MONDO:equivalentTo | Nephroblastoma | | | -| MONDO:0868831 | wilson disease | GARD:7893 | MONDO:equivalentTo | Wilson disease | | | -| MONDO:0868832 | wiskott-aldrich syndrome | GARD:7895 | MONDO:equivalentTo | Wiskott-Aldrich syndrome | | | -| MONDO:0868833 | wolf-hirschhorn syndrome | GARD:7896 | MONDO:equivalentTo | Wolf-Hirschhorn syndrome | | | -| MONDO:0868834 | wolfram syndrome | GARD:7898 | MONDO:equivalentTo | Wolfram syndrome | | | -| MONDO:0868835 | wolman disease | GARD:7899 | MONDO:equivalentTo | Wolman disease | | | -| MONDO:0868836 | metaphyseal chondrodysplasia, jansen type | GARD:79 | MONDO:equivalentTo | Metaphyseal chondrodysplasia, Jansen type | | | -| MONDO:0868837 | neurogenic arthrogryposis multiplex congenita | GARD:790 | MONDO:equivalentTo | Neurogenic arthrogryposis multiplex congenita | | | -| MONDO:0868838 | wyburn-mason syndrome | GARD:7900 | MONDO:equivalentTo | Wyburn-Mason syndrome | | | -| MONDO:0868839 | recessive x-linked ichthyosis | GARD:7904 | MONDO:equivalentTo | Recessive X-linked ichthyosis | | | -| MONDO:0868840 | x-linked lymphoproliferative disease due to sh2d1a deficiency | GARD:7906 | MONDO:equivalentTo | X-linked lymphoproliferative disease due to SH2D1A deficiency | | | -| MONDO:0868841 | xeroderma pigmentosum | GARD:7910 | MONDO:equivalentTo | Xeroderma pigmentosum | | | -| MONDO:0868842 | yellow fever | GARD:7914 | MONDO:equivalentTo | Yellow fever | | | -| MONDO:0868843 | zellweger syndrome | GARD:7917 | MONDO:equivalentTo | Zellweger syndrome | | | -| MONDO:0868844 | zollinger-ellison syndrome | GARD:7918 | MONDO:equivalentTo | Zollinger-Ellison syndrome | | | -| MONDO:0868845 | arthrogryposis multiplex congenita-whistling face syndrome | GARD:792 | MONDO:equivalentTo | Arthrogryposis multiplex congenita-whistling face syndrome | | | -| MONDO:0868846 | muscular dystrophy | GARD:7922 | MONDO:equivalentTo | Muscular dystrophy | | | -| MONDO:0868847 | arthrogryposis-renal dysfunction-cholestasis syndrome | GARD:794 | MONDO:equivalentTo | Arthrogryposis-renal dysfunction-cholestasis syndrome | | | -| MONDO:0868848 | johanson-blizzard syndrome | GARD:80 | MONDO:equivalentTo | Johanson-Blizzard syndrome | | | -| MONDO:0868849 | atrioventricular septal defect | GARD:802 | MONDO:equivalentTo | Atrioventricular septal defect | | | -| MONDO:0868850 | alagille syndrome | GARD:804 | MONDO:equivalentTo | Alagille syndrome | | | -| MONDO:0868851 | spastic paraplegia-facial-cutaneous lesions syndrome | GARD:806 | MONDO:equivalentTo | Spastic paraplegia-facial-cutaneous lesions syndrome | | | -| MONDO:0868852 | balantidiasis | GARD:809 | MONDO:equivalentTo | Balantidiasis | | | -| MONDO:0868853 | bangstad syndrome | GARD:812 | MONDO:equivalentTo | Bangstad syndrome | | | -| MONDO:0868854 | banki syndrome | GARD:813 | MONDO:equivalentTo | Banki syndrome | | | -| MONDO:0868855 | orofaciodigital syndrome type 4 | GARD:816 | MONDO:equivalentTo | Orofaciodigital syndrome type 4 | | | -| MONDO:0868856 | igg4-related mesenteritis | GARD:8169 | MONDO:equivalentTo | IgG4-related mesenteritis | | | -| MONDO:0868857 | achondroplasia | GARD:8173 | MONDO:equivalentTo | Achondroplasia | | | -| MONDO:0868858 | cryptomicrotia-brachydactyly-excess fingertip arch syndrome | GARD:8174 | MONDO:equivalentTo | Cryptomicrotia-brachydactyly-excess fingertip arch syndrome | | | -| MONDO:0868859 | proximal symphalangism | GARD:8182 | MONDO:equivalentTo | Proximal symphalangism | | | -| MONDO:0868860 | conotruncal heart malformations | GARD:8189 | MONDO:equivalentTo | Conotruncal heart malformations | | | -| MONDO:0868861 | barber-say syndrome | GARD:819 | MONDO:equivalentTo | Barber-Say syndrome | | | -| MONDO:0868862 | cysticercosis | GARD:8194 | MONDO:equivalentTo | Cysticercosis | | | -| MONDO:0868863 | strongyloidiasis | GARD:8195 | MONDO:equivalentTo | Strongyloidiasis | | | -| MONDO:0868864 | smith-magenis syndrome | GARD:8197 | MONDO:equivalentTo | Smith-Magenis syndrome | | | -| MONDO:0868865 | omenn syndrome | GARD:8198 | MONDO:equivalentTo | Omenn syndrome | | | -| MONDO:0868866 | kbg syndrome | GARD:82 | MONDO:equivalentTo | KBG syndrome | | | -| MONDO:0868867 | immunoglobulin a vasculitis | GARD:8204 | MONDO:equivalentTo | Immunoglobulin A vasculitis | | | -| MONDO:0868868 | congenital generalized hypertrichosis, ambras type | GARD:8206 | MONDO:equivalentTo | Congenital generalized hypertrichosis, Ambras type | | | -| MONDO:0868869 | pineocytoma | GARD:8207 | MONDO:equivalentTo | Pineocytoma | | | -| MONDO:0868870 | tropical spastic paraparesis | GARD:8208 | MONDO:equivalentTo | Tropical spastic paraparesis | | | -| MONDO:0868871 | lafora disease | GARD:8214 | MONDO:equivalentTo | Lafora disease | | | -| MONDO:0868872 | mansonelliasis | GARD:8216 | MONDO:equivalentTo | Mansonelliasis | | | -| MONDO:0868873 | b-cell prolymphocytic leukemia | GARD:8223 | MONDO:equivalentTo | B-cell prolymphocytic leukemia | | | -| MONDO:0868874 | chronic myelomonocytic leukemia | GARD:8225 | MONDO:equivalentTo | Chronic myelomonocytic leukemia | | | -| MONDO:0868875 | non-langerhans cell histiocytosis | GARD:8231 | MONDO:equivalentTo | Non-Langerhans cell histiocytosis | | | -| MONDO:0868876 | hemangioblastoma | GARD:8232 | MONDO:equivalentTo | Hemangioblastoma | | | -| MONDO:0868877 | gaucher disease | GARD:8233 | MONDO:equivalentTo | Gaucher disease | | | -| MONDO:0868878 | felty syndrome | GARD:8234 | MONDO:equivalentTo | Felty syndrome | | | -| MONDO:0868879 | choroid plexus carcinoma | GARD:8238 | MONDO:equivalentTo | Choroid plexus carcinoma | | | -| MONDO:0868880 | immunodeficiency by defective expression of mhc class ii | GARD:824 | MONDO:equivalentTo | Immunodeficiency by defective expression of MHC class II | | | -| MONDO:0868881 | sea-blue histiocytosis | GARD:8241 | MONDO:equivalentTo | Sea-blue histiocytosis | | | -| MONDO:0868882 | acquired idiopathic sideroblastic anemia | GARD:8249 | MONDO:equivalentTo | Acquired idiopathic sideroblastic anemia | | | -| MONDO:0868883 | omsk hemorrhagic fever | GARD:8254 | MONDO:equivalentTo | Omsk hemorrhagic fever | | | -| MONDO:0868884 | kyasanur forest disease | GARD:8257 | MONDO:equivalentTo | Kyasanur forest disease | | | -| MONDO:0868885 | plummer-vinson syndrome | GARD:8259 | MONDO:equivalentTo | Plummer-Vinson syndrome | | | -| MONDO:0868886 | frontometaphyseal dysplasia | GARD:826 | MONDO:equivalentTo | Frontometaphyseal dysplasia | | | -| MONDO:0868887 | muscular pseudohypertrophy-hypothyroidism syndrome | GARD:8270 | MONDO:equivalentTo | Muscular pseudohypertrophy-hypothyroidism syndrome | | | -| MONDO:0868888 | keratolytic winter erythema | GARD:8275 | MONDO:equivalentTo | Keratolytic winter erythema | | | -| MONDO:0868889 | hereditary amyloidosis with primary renal involvement | GARD:8282 | MONDO:equivalentTo | Hereditary amyloidosis with primary renal involvement | | | -| MONDO:0868890 | isolated complex iii deficiency | GARD:8295 | MONDO:equivalentTo | Isolated complex III deficiency | | | -| MONDO:0868891 | autosomal dominant kenny-caffey syndrome | GARD:83 | MONDO:equivalentTo | Autosomal dominant Kenny-Caffey syndrome | | | -| MONDO:0868892 | tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome | GARD:8309 | MONDO:equivalentTo | Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome | | | -| MONDO:0868893 | steinert myotonic dystrophy | GARD:8310 | MONDO:equivalentTo | Steinert myotonic dystrophy | | | -| MONDO:0868894 | pseudo-von willebrand disease | GARD:8312 | MONDO:equivalentTo | Pseudo-von Willebrand disease | | | -| MONDO:0868895 | dendritic cell tumor | GARD:8317 | MONDO:equivalentTo | Dendritic cell tumor | | | -| MONDO:0868896 | atelosteogenesis type ii | GARD:8329 | MONDO:equivalentTo | Atelosteogenesis type II | | | -| MONDO:0868897 | mohr-tranebjaerg syndrome | GARD:8331 | MONDO:equivalentTo | Mohr-Tranebjaerg syndrome | | | -| MONDO:0868898 | athabaskan brainstem dysgenesis syndrome | GARD:8333 | MONDO:equivalentTo | Athabaskan brainstem dysgenesis syndrome | | | -| MONDO:0868899 | amish nemaline myopathy | GARD:8334 | MONDO:equivalentTo | Amish nemaline myopathy | | | -| MONDO:0868900 | igg4-related mediastinitis | GARD:8337 | MONDO:equivalentTo | IgG4-related mediastinitis | | | -| MONDO:0868901 | phace syndrome | GARD:8338 | MONDO:equivalentTo | PHACE syndrome | | | -| MONDO:0868902 | marinesco-sjögren syndrome | GARD:8341 | MONDO:equivalentTo | Marinesco-Sjögren syndrome | | | -| MONDO:0868903 | spondylometaphyseal dysplasia, golden type | GARD:8343 | MONDO:equivalentTo | Spondylometaphyseal dysplasia, Golden type | | | -| MONDO:0868904 | abri amyloidosis | GARD:8344 | MONDO:equivalentTo | ABri amyloidosis | | | -| MONDO:0868905 | quebec platelet disorder | GARD:8345 | MONDO:equivalentTo | Quebec platelet disorder | | | -| MONDO:0868906 | hypomaturation amelogenesis imperfecta | GARD:8349 | MONDO:equivalentTo | Hypomaturation amelogenesis imperfecta | | | -| MONDO:0868907 | congenital muscular dystrophy-infantile cataract-hypogonadism syndrome | GARD:835 | MONDO:equivalentTo | Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome | | | -| MONDO:0868908 | epilepsy-microcephaly-skeletal dysplasia syndrome | GARD:836 | MONDO:equivalentTo | Epilepsy-microcephaly-skeletal dysplasia syndrome | | | -| MONDO:0868909 | x-linked intellectual disability-retinitis pigmentosa syndrome | GARD:8360 | MONDO:equivalentTo | X-linked intellectual disability-retinitis pigmentosa syndrome | | | -| MONDO:0868910 | autosomal recessive kenny-caffey syndrome | GARD:8367 | MONDO:equivalentTo | Autosomal recessive Kenny-Caffey syndrome | | | -| MONDO:0868911 | congenital lactic acidosis, saguenay-lac-saint-jean type | GARD:8370 | MONDO:equivalentTo | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | | | -| MONDO:0868912 | autosomal recessive polycystic kidney disease | GARD:8378 | MONDO:equivalentTo | Autosomal recessive polycystic kidney disease | | | -| MONDO:0868913 | bazex-dupré-christol syndrome | GARD:838 | MONDO:equivalentTo | Bazex-Dupré-Christol syndrome | | | -| MONDO:0868914 | generalized arterial calcification of infancy | GARD:8380 | MONDO:equivalentTo | Generalized arterial calcification of infancy | | | -| MONDO:0868915 | 3-hydroxy-3-methylglutaric aciduria | GARD:8387 | MONDO:equivalentTo | 3-hydroxy-3-methylglutaric aciduria | | | -| MONDO:0868916 | ornithine transcarbamylase deficiency | GARD:8391 | MONDO:equivalentTo | Ornithine transcarbamylase deficiency | | | -| MONDO:0868917 | brain demyelination due to methionine adenosyltransferase deficiency | GARD:8397 | MONDO:equivalentTo | Brain demyelination due to methionine adenosyltransferase deficiency | | | -| MONDO:0868918 | feingold syndrome | GARD:8407 | MONDO:equivalentTo | Feingold syndrome | | | -| MONDO:0868919 | postaxial acrofacial dysostosis | GARD:8410 | MONDO:equivalentTo | Postaxial acrofacial dysostosis | | | -| MONDO:0868920 | van der woude syndrome | GARD:8414 | MONDO:equivalentTo | Van der Woude syndrome | | | -| MONDO:0868921 | focal facial dermal dysplasia | GARD:8416 | MONDO:equivalentTo | Focal facial dermal dysplasia | | | -| MONDO:0868922 | isolated optic nerve hypoplasia/aplasia | GARD:8419 | MONDO:equivalentTo | Isolated optic nerve hypoplasia/aplasia | | | -| MONDO:0868923 | ankylosing vertebral hyperostosis with tylosis | GARD:842 | MONDO:equivalentTo | Ankylosing vertebral hyperostosis with tylosis | | | -| MONDO:0868924 | tetrasomy 12p | GARD:8421 | MONDO:equivalentTo | Tetrasomy 12p | | | -| MONDO:0868925 | peters plus syndrome | GARD:8422 | MONDO:equivalentTo | Peters plus syndrome | | | -| MONDO:0868926 | richards-rundle syndrome | GARD:8423 | MONDO:equivalentTo | Richards-Rundle syndrome | | | -| MONDO:0868927 | iminoglycinuria | GARD:8424 | MONDO:equivalentTo | Iminoglycinuria | | | -| MONDO:0868928 | thyroid hypoplasia | GARD:8426 | MONDO:equivalentTo | Thyroid hypoplasia | | | -| MONDO:0868929 | immunodeficiency by defective expression of mhc class i | GARD:8427 | MONDO:equivalentTo | Immunodeficiency by defective expression of MHC class I | | | -| MONDO:0868930 | crane-heise syndrome | GARD:8428 | MONDO:equivalentTo | Crane-Heise syndrome | | | -| MONDO:0868931 | native american myopathy | GARD:8432 | MONDO:equivalentTo | Native American myopathy | | | -| MONDO:0868932 | king-denborough syndrome | GARD:8433 | MONDO:equivalentTo | King-Denborough syndrome | | | -| MONDO:0868933 | persistent müllerian duct syndrome | GARD:8435 | MONDO:equivalentTo | Persistent Müllerian duct syndrome | | | -| MONDO:0868934 | frontotemporal dementia | GARD:8436 | MONDO:equivalentTo | Frontotemporal dementia | | | -| MONDO:0868935 | isolated anterior cervical hypertrichosis | GARD:8438 | MONDO:equivalentTo | Isolated anterior cervical hypertrichosis | | | -| MONDO:0868936 | keutel syndrome | GARD:8449 | MONDO:equivalentTo | Keutel syndrome | | | -| MONDO:0868937 | tumor necrosis factor receptor 1 associated periodic syndrome | GARD:8457 | MONDO:equivalentTo | Tumor necrosis factor receptor 1 associated periodic syndrome | | | -| MONDO:0868938 | beemer-ertbruggen syndrome | GARD:846 | MONDO:equivalentTo | Beemer-Ertbruggen syndrome | | | -| MONDO:0868939 | autoimmune polyendocrinopathy type 1 | GARD:8466 | MONDO:equivalentTo | Autoimmune polyendocrinopathy type 1 | | | -| MONDO:0868940 | melanoma and neural system tumor syndrome | GARD:8468 | MONDO:equivalentTo | Melanoma and neural system tumor syndrome | | | -| MONDO:0868941 | x-linked recessive ocular albinism | GARD:8471 | MONDO:equivalentTo | X-linked recessive ocular albinism | | | -| MONDO:0868942 | muckle-wells syndrome | GARD:8472 | MONDO:equivalentTo | Muckle-Wells syndrome | | | -| MONDO:0868943 | leber plus disease | GARD:8476 | MONDO:equivalentTo | Leber plus disease | | | -| MONDO:0868944 | familial multiple discoid fibromas | GARD:8479 | MONDO:equivalentTo | Familial multiple discoid fibromas | | | -| MONDO:0868945 | behçet disease | GARD:848 | MONDO:equivalentTo | Behçet disease | | | -| MONDO:0868946 | autosomal recessive cutis laxa type 1 | GARD:8480 | MONDO:equivalentTo | Autosomal recessive cutis laxa type 1 | | | -| MONDO:0868947 | acropectoral syndrome | GARD:8485 | MONDO:equivalentTo | Acropectoral syndrome | | | -| MONDO:0868948 | musculocontractural ehlers-danlos syndrome | GARD:8486 | MONDO:equivalentTo | Musculocontractural Ehlers-Danlos syndrome | | | -| MONDO:0868949 | infantile digital fibromatosis | GARD:8487 | MONDO:equivalentTo | Infantile digital fibromatosis | | | -| MONDO:0868950 | familial papillary or follicular thyroid carcinoma | GARD:8488 | MONDO:equivalentTo | Familial papillary or follicular thyroid carcinoma | | | -| MONDO:0868951 | african iron overload | GARD:8495 | MONDO:equivalentTo | African iron overload | | | -| MONDO:0868952 | thanatophoric dysplasia | GARD:85 | MONDO:equivalentTo | Thanatophoric dysplasia | | | -| MONDO:0868953 | white sponge nevus | GARD:8501 | MONDO:equivalentTo | White sponge nevus | | | -| MONDO:0868954 | x-linked ehlers-danlos syndrome | GARD:8505 | MONDO:equivalentTo | X-linked Ehlers-Danlos syndrome | | | -| MONDO:0868955 | classical-like ehlers-danlos syndrome type 1 | GARD:8507 | MONDO:equivalentTo | Classical-like Ehlers-Danlos syndrome type 1 | | | -| MONDO:0868956 | aredyld syndrome | GARD:8509 | MONDO:equivalentTo | AREDYLD syndrome | | | -| MONDO:0868957 | huriez syndrome | GARD:8517 | MONDO:equivalentTo | Huriez syndrome | | | -| MONDO:0868958 | x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome | GARD:8520 | MONDO:equivalentTo | X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome | | | -| MONDO:0868959 | infantile-onset x-linked spinal muscular atrophy | GARD:8521 | MONDO:equivalentTo | Infantile-onset X-linked spinal muscular atrophy | | | -| MONDO:0868960 | diffuse panbronchiolitis | GARD:8526 | MONDO:equivalentTo | Diffuse panbronchiolitis | | | -| MONDO:0868961 | hellp syndrome | GARD:8528 | MONDO:equivalentTo | HELLP syndrome | | | -| MONDO:0868962 | macrodactyly of fingers | GARD:8529 | MONDO:equivalentTo | Macrodactyly of fingers | | | -| MONDO:0868963 | cloverleaf skull-asphyxiating thoracic dysplasia syndrome | GARD:853 | MONDO:equivalentTo | Cloverleaf skull-asphyxiating thoracic dysplasia syndrome | | | -| MONDO:0868964 | male infertility with azoospermia or oligozoospermia due to single gene mutation | GARD:8530 | MONDO:equivalentTo | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | -| MONDO:0868965 | attenuated familial adenomatous polyposis | GARD:8532 | MONDO:equivalentTo | Attenuated familial adenomatous polyposis | | | -| MONDO:0868966 | hereditary nonpolyposis colon cancer | GARD:8533 | MONDO:equivalentTo | Hereditary nonpolyposis colon cancer | | | -| MONDO:0868967 | congenital central hypoventilation syndrome | GARD:8535 | MONDO:equivalentTo | Congenital central hypoventilation syndrome | | | -| MONDO:0868968 | 46,xy disorder of sex development | GARD:8538 | MONDO:equivalentTo | 46,XY disorder of sex development | | | -| MONDO:0868969 | urocanic aciduria | GARD:8539 | MONDO:equivalentTo | Urocanic aciduria | | | -| MONDO:0868970 | primary progressive aphasia | GARD:8541 | MONDO:equivalentTo | Primary progressive aphasia | | | -| MONDO:0868971 | chondrodysplasia punctata | GARD:8542 | MONDO:equivalentTo | Chondrodysplasia punctata | | | -| MONDO:0868972 | gitelman syndrome | GARD:8547 | MONDO:equivalentTo | Gitelman syndrome | | | -| MONDO:0868973 | charcot-marie-tooth disease type 2b1 | GARD:8548 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 2B1 | | | -| MONDO:0868974 | moebius syndrome | GARD:8549 | MONDO:equivalentTo | Moebius syndrome | | | -| MONDO:0868975 | dermatopathia pigmentosa reticularis | GARD:8550 | MONDO:equivalentTo | Dermatopathia pigmentosa reticularis | | | -| MONDO:0868976 | infantile convulsions and choreoathetosis | GARD:8553 | MONDO:equivalentTo | Infantile convulsions and choreoathetosis | | | -| MONDO:0868977 | dense deposit disease | GARD:8555 | MONDO:equivalentTo | Dense deposit disease | | | -| MONDO:0868978 | seckel syndrome | GARD:8562 | MONDO:equivalentTo | Seckel syndrome | | | -| MONDO:0868979 | primary orthostatic tremor | GARD:8563 | MONDO:equivalentTo | Primary orthostatic tremor | | | -| MONDO:0868980 | benign familial infantile epilepsy | GARD:857 | MONDO:equivalentTo | Benign familial infantile epilepsy | | | -| MONDO:0868981 | steroid-responsive encephalopathy associated with autoimmune thyroiditis | GARD:8570 | MONDO:equivalentTo | Steroid-responsive encephalopathy associated with autoimmune thyroiditis | | | -| MONDO:0868982 | delta-sarcoglycan-related limb-girdle muscular dystrophy r6 | GARD:8573 | MONDO:equivalentTo | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 | | | -| MONDO:0868983 | dysferlin-related limb-girdle muscular dystrophy r2 | GARD:8574 | MONDO:equivalentTo | Dysferlin-related limb-girdle muscular dystrophy R2 | | | -| MONDO:0868984 | panuveitis | GARD:8577 | MONDO:equivalentTo | Panuveitis | | | -| MONDO:0868985 | vitamin k antagonist embryofetopathy | GARD:8580 | MONDO:equivalentTo | Vitamin K antagonist embryofetopathy | | | -| MONDO:0868986 | isolated hereditary congenital facial paralysis | GARD:8583 | MONDO:equivalentTo | Isolated hereditary congenital facial paralysis | | | -| MONDO:0868987 | cantú syndrome | GARD:8585 | MONDO:equivalentTo | Cantú syndrome | | | -| MONDO:0868988 | cardiocranial syndrome, pfeiffer type | GARD:8586 | MONDO:equivalentTo | Cardiocranial syndrome, Pfeiffer type | | | -| MONDO:0868989 | spinal muscular atrophy with respiratory distress type 1 | GARD:8592 | MONDO:equivalentTo | Spinal muscular atrophy with respiratory distress type 1 | | | -| MONDO:0868990 | morgagni-stewart-morel syndrome | GARD:8593 | MONDO:equivalentTo | Morgagni-Stewart-Morel syndrome | | | -| MONDO:0868991 | ataxia with vitamin e deficiency | GARD:8595 | MONDO:equivalentTo | Ataxia with vitamin E deficiency | | | -| MONDO:0868992 | gastrointestinal stromal tumor | GARD:8598 | MONDO:equivalentTo | Gastrointestinal stromal tumor | | | -| MONDO:0868993 | chudley-mccullough syndrome | GARD:86 | MONDO:equivalentTo | Chudley-McCullough syndrome | | | -| MONDO:0868994 | cryptorchidism-arachnodactyly-intellectual disability syndrome | GARD:860 | MONDO:equivalentTo | Cryptorchidism-arachnodactyly-intellectual disability syndrome | | | -| MONDO:0868995 | saldino-mainzer syndrome | GARD:8600 | MONDO:equivalentTo | Saldino-Mainzer syndrome | | | -| MONDO:0868996 | acquired angioedema | GARD:8605 | MONDO:equivalentTo | Acquired angioedema | | | -| MONDO:0868997 | amish lethal microcephaly | GARD:8606 | MONDO:equivalentTo | Amish lethal microcephaly | | | -| MONDO:0868998 | idiopathic pulmonary fibrosis | GARD:8609 | MONDO:equivalentTo | Idiopathic pulmonary fibrosis | | | -| MONDO:0868999 | harlequin syndrome | GARD:8610 | MONDO:equivalentTo | Harlequin syndrome | | | -| MONDO:0869000 | sickle cell anemia | GARD:8614 | MONDO:equivalentTo | Sickle cell anemia | | | -| MONDO:0869001 | systemic mastocytosis | GARD:8616 | MONDO:equivalentTo | Systemic mastocytosis | | | -| MONDO:0869002 | primary myelofibrosis | GARD:8618 | MONDO:equivalentTo | Primary myelofibrosis | | | -| MONDO:0869003 | uveal melanoma | GARD:8621 | MONDO:equivalentTo | Uveal melanoma | | | -| MONDO:0869004 | good syndrome | GARD:8622 | MONDO:equivalentTo | Good syndrome | | | -| MONDO:0869005 | microcephaly-cleft palate-abnormal retinal pigmentation syndrome | GARD:8623 | MONDO:equivalentTo | Microcephaly-cleft palate-abnormal retinal pigmentation syndrome | | | -| MONDO:0869006 | reticular dysgenesis | GARD:8625 | MONDO:equivalentTo | Reticular dysgenesis | | | -| MONDO:0869007 | monosomy 18p | GARD:8631 | MONDO:equivalentTo | Monosomy 18p | | | -| MONDO:0869008 | acute leukemia of ambiguous lineage | GARD:8638 | MONDO:equivalentTo | Acute leukemia of ambiguous lineage | | | -| MONDO:0869009 | acute disseminated encephalomyelitis | GARD:8639 | MONDO:equivalentTo | Acute disseminated encephalomyelitis | | | -| MONDO:0869010 | acute zonal occult outer retinopathy | GARD:8640 | MONDO:equivalentTo | Acute zonal occult outer retinopathy | | | -| MONDO:0869011 | congenital alveolar capillary dysplasia | GARD:8644 | MONDO:equivalentTo | Congenital alveolar capillary dysplasia | | | -| MONDO:0869012 | erythema elevatum diutinum | GARD:8653 | MONDO:equivalentTo | Erythema elevatum diutinum | | | -| MONDO:0869013 | fibular hemimelia | GARD:8659 | MONDO:equivalentTo | Fibular hemimelia | | | -| MONDO:0869014 | gerstmann syndrome | GARD:8660 | MONDO:equivalentTo | Gerstmann syndrome | | | -| MONDO:0869015 | gastroschisis | GARD:8661 | MONDO:equivalentTo | Gastroschisis | | | -| MONDO:0869016 | auriculoosteodysplasia | GARD:8663 | MONDO:equivalentTo | Auriculoosteodysplasia | | | -| MONDO:0869017 | chronic beryllium disease | GARD:867 | MONDO:equivalentTo | Chronic beryllium disease | | | -| MONDO:0869018 | kleefstra syndrome | GARD:8672 | MONDO:equivalentTo | Kleefstra syndrome | | | -| MONDO:0869019 | crigler-najjar syndrome type 2 | GARD:8683 | MONDO:equivalentTo | Crigler-Najjar syndrome type 2 | | | -| MONDO:0869020 | autoimmune lymphoproliferative syndrome | GARD:8686 | MONDO:equivalentTo | Autoimmune lymphoproliferative syndrome | | | -| MONDO:0869021 | severe immune-mediated enteropathy | GARD:8689 | MONDO:equivalentTo | Severe immune-mediated enteropathy | | | -| MONDO:0869022 | beta-mannosidosis | GARD:869 | MONDO:equivalentTo | Beta-mannosidosis | | | -| MONDO:0869023 | whooping cough | GARD:8692 | MONDO:equivalentTo | Whooping cough | | | -| MONDO:0869024 | osteogenesis imperfecta type 1 | GARD:8694 | MONDO:equivalentTo | Osteogenesis imperfecta type 1 | | | -| MONDO:0869025 | osteogenesis imperfecta type 3 | GARD:8695 | MONDO:equivalentTo | Osteogenesis imperfecta type 3 | | | -| MONDO:0869026 | osteogenesis imperfecta type 4 | GARD:8696 | MONDO:equivalentTo | Osteogenesis imperfecta type 4 | | | -| MONDO:0869027 | gnathodiaphyseal dysplasia | GARD:8698 | MONDO:equivalentTo | Gnathodiaphyseal dysplasia | | | -| MONDO:0869028 | osteogenesis imperfecta type 5 | GARD:8699 | MONDO:equivalentTo | Osteogenesis imperfecta type 5 | | | -| MONDO:0869029 | microphthalmia, lenz type | GARD:87 | MONDO:equivalentTo | Microphthalmia, Lenz type | | | -| MONDO:0869030 | atypical hemolytic uremic syndrome | GARD:8702 | MONDO:equivalentTo | Atypical hemolytic uremic syndrome | | | -| MONDO:0869031 | primary angiitis of the central nervous system | GARD:8703 | MONDO:equivalentTo | Primary angiitis of the central nervous system | | | -| MONDO:0869032 | tibial hemimelia | GARD:8707 | MONDO:equivalentTo | Tibial hemimelia | | | -| MONDO:0869033 | patella aplasia/hypoplasia | GARD:8709 | MONDO:equivalentTo | Patella aplasia/hypoplasia | | | -| MONDO:0869034 | beta-thalassemia | GARD:871 | MONDO:equivalentTo | Beta-thalassemia | | | -| MONDO:0869035 | spheroid body myopathy | GARD:8711 | MONDO:equivalentTo | Spheroid body myopathy | | | -| MONDO:0869036 | achondrogenesis type 2 | GARD:8713 | MONDO:equivalentTo | Achondrogenesis type 2 | | | -| MONDO:0869037 | odontochondrodysplasia | GARD:8717 | MONDO:equivalentTo | Odontochondrodysplasia | | | -| MONDO:0869038 | spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome | GARD:8719 | MONDO:equivalentTo | Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome | | | -| MONDO:0869039 | beta-ketothiolase deficiency | GARD:872 | MONDO:equivalentTo | Beta-ketothiolase deficiency | | | -| MONDO:0869040 | axial spondylometaphyseal dysplasia | GARD:8720 | MONDO:equivalentTo | Axial spondylometaphyseal dysplasia | | | -| MONDO:0869041 | paroxysmal kinesigenic dyskinesia | GARD:8721 | MONDO:equivalentTo | Paroxysmal kinesigenic dyskinesia | | | -| MONDO:0869042 | paroxysmal non-kinesigenic dyskinesia | GARD:8722 | MONDO:equivalentTo | Paroxysmal non-kinesigenic dyskinesia | | | -| MONDO:0869043 | myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | GARD:8723 | MONDO:equivalentTo | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | | | -| MONDO:0869044 | bethlem myopathy | GARD:873 | MONDO:equivalentTo | Bethlem myopathy | | | -| MONDO:0869045 | hemophilia b | GARD:8732 | MONDO:equivalentTo | Hemophilia B | | | -| MONDO:0869046 | childhood-onset hypophosphatasia | GARD:8735 | MONDO:equivalentTo | Childhood-onset hypophosphatasia | | | -| MONDO:0869047 | idiopathic hypersomnia | GARD:8737 | MONDO:equivalentTo | Idiopathic hypersomnia | | | -| MONDO:0869048 | greenberg dysplasia | GARD:8754 | MONDO:equivalentTo | Greenberg dysplasia | | | -| MONDO:0869049 | arrhinia-choanal atresia-microphthalmia syndrome | GARD:8755 | MONDO:equivalentTo | Arrhinia-choanal atresia-microphthalmia syndrome | | | -| MONDO:0869050 | lethal ataxia with deafness and optic atrophy | GARD:8756 | MONDO:equivalentTo | Lethal ataxia with deafness and optic atrophy | | | -| MONDO:0869051 | pleuropulmonary blastoma | GARD:8757 | MONDO:equivalentTo | Pleuropulmonary blastoma | | | -| MONDO:0869052 | ocular cicatricial pemphigoid | GARD:8759 | MONDO:equivalentTo | Ocular cicatricial pemphigoid | | | -| MONDO:0869053 | leri pleonosteosis | GARD:88 | MONDO:equivalentTo | Leri pleonosteosis | | | -| MONDO:0869054 | biemond syndrome type 2 | GARD:882 | MONDO:equivalentTo | Biemond syndrome type 2 | | | -| MONDO:0869055 | bifid nose | GARD:884 | MONDO:equivalentTo | Bifid nose | | | -| MONDO:0869056 | fallot complex-intellectual disability-growth delay syndrome | GARD:893 | MONDO:equivalentTo | Fallot complex-intellectual disability-growth delay syndrome | | | -| MONDO:0869057 | biotinidase deficiency | GARD:894 | MONDO:equivalentTo | Biotinidase deficiency | | | -| MONDO:0869058 | microcephalic primordial dwarfism, montreal type | GARD:895 | MONDO:equivalentTo | Microcephalic primordial dwarfism, Montreal type | | | -| MONDO:0869059 | hypertelorism-microtia-facial clefting syndrome | GARD:897 | MONDO:equivalentTo | Hypertelorism-microtia-facial clefting syndrome | | | -| MONDO:0869060 | blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome | GARD:905 | MONDO:equivalentTo | Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome | | | -| MONDO:0869061 | primary fanconi renotubular syndrome | GARD:9118 | MONDO:equivalentTo | Primary Fanconi renotubular syndrome | | | -| MONDO:0869062 | pulmonary agenesis | GARD:9119 | MONDO:equivalentTo | Pulmonary agenesis | | | -| MONDO:0869063 | blepharoptosis-myopia-ectopia lentis syndrome | GARD:912 | MONDO:equivalentTo | Blepharoptosis-myopia-ectopia lentis syndrome | | | -| MONDO:0869064 | treacher-collins syndrome | GARD:9124 | MONDO:equivalentTo | Treacher-Collins syndrome | | | -| MONDO:0869065 | agnathia-holoprosencephaly-situs inversus syndrome | GARD:9126 | MONDO:equivalentTo | Agnathia-holoprosencephaly-situs inversus syndrome | | | -| MONDO:0869066 | idiopathic inflammatory myopathy | GARD:9128 | MONDO:equivalentTo | Idiopathic inflammatory myopathy | | | -| MONDO:0869067 | congenital muscular dystrophy | GARD:9138 | MONDO:equivalentTo | Congenital muscular dystrophy | | | -| MONDO:0869068 | blomstrand lethal chondrodysplasia | GARD:914 | MONDO:equivalentTo | Blomstrand lethal chondrodysplasia | | | -| MONDO:0869069 | eosinophilic gastroenteritis | GARD:9142 | MONDO:equivalentTo | Eosinophilic gastroenteritis | | | -| MONDO:0869070 | renal pseudohypoaldosteronism type 1 | GARD:9145 | MONDO:equivalentTo | Renal pseudohypoaldosteronism type 1 | | | -| MONDO:0869071 | cardiofaciocutaneous syndrome | GARD:9146 | MONDO:equivalentTo | Cardiofaciocutaneous syndrome | | | -| MONDO:0869072 | bloom syndrome | GARD:915 | MONDO:equivalentTo | Bloom syndrome | | | -| MONDO:0869073 | congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | GARD:9152 | MONDO:equivalentTo | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | -| MONDO:0869074 | syndromic x-linked intellectual disability 7 | GARD:9156 | MONDO:equivalentTo | Syndromic X-linked intellectual disability 7 | | | -| MONDO:0869075 | x-linked intellectual disability, abidi type | GARD:9157 | MONDO:equivalentTo | X-linked intellectual disability, Abidi type | | | -| MONDO:0869076 | brody myopathy | GARD:9158 | MONDO:equivalentTo | Brody myopathy | | | -| MONDO:0869077 | blount disease | GARD:916 | MONDO:equivalentTo | Blount disease | | | -| MONDO:0869078 | alpha-n-acetylgalactosaminidase deficiency type 2 | GARD:9161 | MONDO:equivalentTo | Alpha-N-acetylgalactosaminidase deficiency type 2 | | | -| MONDO:0869079 | roifman syndrome | GARD:9163 | MONDO:equivalentTo | Roifman syndrome | | | -| MONDO:0869080 | rippling muscle disease | GARD:9164 | MONDO:equivalentTo | Rippling muscle disease | | | -| MONDO:0869081 | familial expansile osteolysis | GARD:9168 | MONDO:equivalentTo | Familial expansile osteolysis | | | -| MONDO:0869082 | adan amyloidosis | GARD:9169 | MONDO:equivalentTo | ADan amyloidosis | | | -| MONDO:0869083 | blue cone monochromatism | GARD:917 | MONDO:equivalentTo | Blue cone monochromatism | | | -| MONDO:0869084 | hypotrichosis simplex | GARD:9170 | MONDO:equivalentTo | Hypotrichosis simplex | | | -| MONDO:0869085 | kufor-rakeb syndrome | GARD:9174 | MONDO:equivalentTo | Kufor-Rakeb syndrome | | | -| MONDO:0869086 | parkinsonian-pyramidal syndrome | GARD:9175 | MONDO:equivalentTo | Parkinsonian-pyramidal syndrome | | | -| MONDO:0869087 | pyogenic arthritis-pyoderma gangrenosum-acne syndrome | GARD:9176 | MONDO:equivalentTo | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | | | -| MONDO:0869088 | lethal congenital contracture syndrome type 2 | GARD:9177 | MONDO:equivalentTo | Lethal congenital contracture syndrome type 2 | | | -| MONDO:0869089 | mehmo syndrome | GARD:9178 | MONDO:equivalentTo | MEHMO syndrome | | | -| MONDO:0869090 | north carolina macular dystrophy | GARD:9179 | MONDO:equivalentTo | North Carolina macular dystrophy | | | -| MONDO:0869091 | brachymorphism-onychodysplasia-dysphalangism syndrome | GARD:918 | MONDO:equivalentTo | Brachymorphism-onychodysplasia-dysphalangism syndrome | | | -| MONDO:0869092 | primary membranous glomerulonephritis | GARD:9180 | MONDO:equivalentTo | Primary membranous glomerulonephritis | | | -| MONDO:0869093 | familial abdominal aortic aneurysm | GARD:9181 | MONDO:equivalentTo | Familial abdominal aortic aneurysm | | | -| MONDO:0869094 | okihiro syndrome | GARD:9182 | MONDO:equivalentTo | Okihiro syndrome | | | -| MONDO:0869095 | progressive pseudorheumatoid arthropathy of childhood | GARD:9184 | MONDO:equivalentTo | Progressive pseudorheumatoid arthropathy of childhood | | | -| MONDO:0869096 | mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency | GARD:9185 | MONDO:equivalentTo | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency | | | -| MONDO:0869097 | charcot-marie-tooth disease type 1d | GARD:9189 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 1D | | | -| MONDO:0869098 | charcot-marie-tooth disease type 1e | GARD:9190 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 1E | | | -| MONDO:0869099 | charcot-marie-tooth disease type 1f | GARD:9191 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 1F | | | -| MONDO:0869100 | autosomal dominant charcot-marie-tooth disease type 2b | GARD:9192 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2B | | | -| MONDO:0869101 | autosomal dominant charcot-marie-tooth disease type 2e | GARD:9193 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | | -| MONDO:0869102 | autosomal dominant charcot-marie-tooth disease type 2f | GARD:9194 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2F | | | -| MONDO:0869103 | autosomal dominant charcot-marie-tooth disease type 2g | GARD:9195 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2G | | | -| MONDO:0869104 | charcot-marie-tooth disease type 2h | GARD:9196 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 2H | | | -| MONDO:0869105 | autosomal dominant charcot-marie-tooth disease type 2i | GARD:9197 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2I | | | -| MONDO:0869106 | autosomal dominant charcot-marie-tooth disease type 2j | GARD:9198 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2J | | | -| MONDO:0869107 | autosomal dominant charcot-marie-tooth disease type 2k | GARD:9199 | MONDO:equivalentTo | Autosomal dominant Charcot-Marie-Tooth disease type 2K | | | -| MONDO:0869108 | mal de meleda | GARD:92 | MONDO:equivalentTo | Mal de Meleda | | | -| MONDO:0869109 | charcot-marie-tooth disease type 4b2 | GARD:9200 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 4B2 | | | -| MONDO:0869110 | charcot-marie-tooth disease type 4c | GARD:9201 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 4C | | | -| MONDO:0869111 | charcot-marie-tooth disease type 4e | GARD:9203 | MONDO:equivalentTo | Charcot-Marie-Tooth disease type 4E | | | -| MONDO:0869112 | dejerine-sottas syndrome | GARD:9204 | MONDO:equivalentTo | Dejerine-Sottas syndrome | | | -| MONDO:0869113 | autosomal dominant intermediate charcot-marie-tooth disease type f | GARD:9206 | MONDO:equivalentTo | Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | | | -| MONDO:0869114 | autosomal dominant intermediate charcot-marie-tooth disease type d | GARD:9207 | MONDO:equivalentTo | Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | | | -| MONDO:0869115 | hereditary motor and sensory neuropathy type 5 | GARD:9208 | MONDO:equivalentTo | Hereditary motor and sensory neuropathy type 5 | | | -| MONDO:0869116 | thiamine-responsive megaloblastic anemia syndrome | GARD:9210 | MONDO:equivalentTo | Thiamine-responsive megaloblastic anemia syndrome | | | -| MONDO:0869117 | phocomelia, schinzel type | GARD:9212 | MONDO:equivalentTo | Phocomelia, Schinzel type | | | -| MONDO:0869118 | lymphedema-cerebral arteriovenous anomaly syndrome | GARD:9217 | MONDO:equivalentTo | Lymphedema-cerebral arteriovenous anomaly syndrome | | | -| MONDO:0869119 | bone dysplasia, lethal holmgren type | GARD:922 | MONDO:equivalentTo | Bone dysplasia, lethal Holmgren type | | | -| MONDO:0869120 | tarsal-carpal coalition syndrome | GARD:9225 | MONDO:equivalentTo | Tarsal-carpal coalition syndrome | | | -| MONDO:0869121 | renal agenesis | GARD:9228 | MONDO:equivalentTo | Renal agenesis | | | -| MONDO:0869122 | arnold-chiari malformation type ii | GARD:9232 | MONDO:equivalentTo | Arnold-Chiari malformation type II | | | -| MONDO:0869123 | arnold-chiari malformation type i | GARD:9233 | MONDO:equivalentTo | Arnold-Chiari malformation type I | | | -| MONDO:0869124 | severe acute respiratory syndrome | GARD:9237 | MONDO:equivalentTo | Severe acute respiratory syndrome | | | -| MONDO:0869125 | parkinson-dementia complex of guam | GARD:9239 | MONDO:equivalentTo | Parkinson-dementia complex of Guam | | | -| MONDO:0869126 | familial advanced sleep-phase syndrome | GARD:9242 | MONDO:equivalentTo | Familial advanced sleep-phase syndrome | | | -| MONDO:0869127 | primary effusion lymphoma | GARD:9247 | MONDO:equivalentTo | Primary effusion lymphoma | | | -| MONDO:0869128 | tubulointerstitial nephritis and uveitis syndrome | GARD:9252 | MONDO:equivalentTo | Tubulointerstitial nephritis and uveitis syndrome | | | -| MONDO:0869129 | early infantile epileptic encephalopathy | GARD:9255 | MONDO:equivalentTo | Early infantile epileptic encephalopathy | | | -| MONDO:0869130 | sunct syndrome | GARD:9257 | MONDO:equivalentTo | SUNCT syndrome | | | -| MONDO:0869131 | perineural cyst | GARD:9258 | MONDO:equivalentTo | Perineural cyst | | | -| MONDO:0869132 | classic glucose transporter type 1 deficiency syndrome | GARD:9265 | MONDO:equivalentTo | Classic glucose transporter type 1 deficiency syndrome | | | -| MONDO:0869133 | cutaneous neuroendocrine carcinoma | GARD:9266 | MONDO:equivalentTo | Cutaneous neuroendocrine carcinoma | | | -| MONDO:0869134 | thiel-behnke corneal dystrophy | GARD:9275 | MONDO:equivalentTo | Thiel-Behnke corneal dystrophy | | | -| MONDO:0869135 | reis-bücklers corneal dystrophy | GARD:9276 | MONDO:equivalentTo | Reis-Bücklers corneal dystrophy | | | -| MONDO:0869136 | schnyder corneal dystrophy | GARD:9277 | MONDO:equivalentTo | Schnyder corneal dystrophy | | | -| MONDO:0869137 | granular corneal dystrophy type ii | GARD:9278 | MONDO:equivalentTo | Granular corneal dystrophy type II | | | -| MONDO:0869138 | formiminoglutamic aciduria | GARD:9279 | MONDO:equivalentTo | Formiminoglutamic aciduria | | | -| MONDO:0869139 | cholestasis-pigmentary retinopathy-cleft palate syndrome | GARD:9280 | MONDO:equivalentTo | Cholestasis-pigmentary retinopathy-cleft palate syndrome | | | -| MONDO:0869140 | familial atypical multiple mole melanoma syndrome | GARD:9281 | MONDO:equivalentTo | Familial atypical multiple mole melanoma syndrome | | | -| MONDO:0869141 | white platelet syndrome | GARD:9282 | MONDO:equivalentTo | White platelet syndrome | | | -| MONDO:0869142 | ataxia-oculomotor apraxia type 1 | GARD:9283 | MONDO:equivalentTo | Ataxia-oculomotor apraxia type 1 | | | -| MONDO:0869143 | amoebic keratitis | GARD:9285 | MONDO:equivalentTo | Amoebic keratitis | | | -| MONDO:0869144 | atelosteogenesis type i | GARD:9287 | MONDO:equivalentTo | Atelosteogenesis type I | | | -| MONDO:0869145 | x-linked intellectual disability, schimke type | GARD:9288 | MONDO:equivalentTo | X-linked intellectual disability, Schimke type | | | -| MONDO:0869146 | microphthalmia-brain atrophy syndrome | GARD:9292 | MONDO:equivalentTo | Microphthalmia-brain atrophy syndrome | | | -| MONDO:0869147 | timothy syndrome | GARD:9294 | MONDO:equivalentTo | Timothy syndrome | | | -| MONDO:0869148 | thanatophoric dysplasia type 1 | GARD:9295 | MONDO:equivalentTo | Thanatophoric dysplasia type 1 | | | -| MONDO:0869149 | autosomal recessive spastic paraplegia type 24 | GARD:9296 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 24 | | | -| MONDO:0869150 | whim syndrome | GARD:9297 | MONDO:equivalentTo | WHIM syndrome | | | -| MONDO:0869151 | pyridoxine-dependent epilepsy | GARD:9298 | MONDO:equivalentTo | Pyridoxine-dependent epilepsy | | | -| MONDO:0869152 | acute ackee fruit intoxication | GARD:9299 | MONDO:equivalentTo | Acute ackee fruit intoxication | | | -| MONDO:0869153 | monilethrix | GARD:93 | MONDO:equivalentTo | Monilethrix | | | -| MONDO:0869154 | cholangiocarcinoma | GARD:9304 | MONDO:equivalentTo | Cholangiocarcinoma | | | -| MONDO:0869155 | neuroendocrine neoplasm | GARD:9316 | MONDO:equivalentTo | Neuroendocrine neoplasm | | | -| MONDO:0869156 | primary central nervous system lymphoma | GARD:9318 | MONDO:equivalentTo | Primary central nervous system lymphoma | | | -| MONDO:0869157 | myeloproliferative neoplasm | GARD:9319 | MONDO:equivalentTo | Myeloproliferative neoplasm | | | -| MONDO:0869158 | böök syndrome | GARD:932 | MONDO:equivalentTo | Böök syndrome | | | -| MONDO:0869159 | extragonadal germ cell tumor | GARD:9325 | MONDO:equivalentTo | Extragonadal germ cell tumor | | | -| MONDO:0869160 | boomerang dysplasia | GARD:933 | MONDO:equivalentTo | Boomerang dysplasia | | | -| MONDO:0869161 | malignant germ cell tumor of ovary | GARD:9330 | MONDO:equivalentTo | Malignant germ cell tumor of ovary | | | -| MONDO:0869162 | pediatric hepatocellular carcinoma | GARD:9331 | MONDO:equivalentTo | Pediatric hepatocellular carcinoma | | | -| MONDO:0869163 | small cell lung cancer | GARD:9344 | MONDO:equivalentTo | Small cell lung cancer | | | -| MONDO:0869164 | vaginal carcinoma | GARD:9348 | MONDO:equivalentTo | Vaginal carcinoma | | | -| MONDO:0869165 | vulvar carcinoma | GARD:9349 | MONDO:equivalentTo | Vulvar carcinoma | | | -| MONDO:0869166 | myelodysplastic/myeloproliferative disease | GARD:9351 | MONDO:equivalentTo | Myelodysplastic/myeloproliferative disease | | | -| MONDO:0869167 | borjeson-forssman-lehmann syndrome | GARD:936 | MONDO:equivalentTo | Borjeson-Forssman-Lehmann syndrome | | | -| MONDO:0869168 | malignant epithelial tumor of ovary | GARD:9362 | MONDO:equivalentTo | Malignant epithelial tumor of ovary | | | -| MONDO:0869169 | borderline epithelial tumor of ovary | GARD:9363 | MONDO:equivalentTo | Borderline epithelial tumor of ovary | | | -| MONDO:0869170 | rare tumor of pancreas | GARD:9364 | MONDO:equivalentTo | Rare tumor of pancreas | | | -| MONDO:0869171 | malignant tumor of penis | GARD:9366 | MONDO:equivalentTo | Malignant tumor of penis | | | -| MONDO:0869172 | pineoblastoma | GARD:9369 | MONDO:equivalentTo | Pineoblastoma | | | -| MONDO:0869173 | pituitary carcinoma | GARD:9371 | MONDO:equivalentTo | Pituitary carcinoma | | | -| MONDO:0869174 | plasma cell leukemia | GARD:9373 | MONDO:equivalentTo | Plasma cell leukemia | | | -| MONDO:0869175 | upper tract urothelial carcinoma | GARD:9376 | MONDO:equivalentTo | Upper tract urothelial carcinoma | | | -| MONDO:0869176 | tricho-retino-dento-digital syndrome | GARD:938 | MONDO:equivalentTo | Tricho-retino-dento-digital syndrome | | | -| MONDO:0869177 | mucolipidosis type iv | GARD:94 | MONDO:equivalentTo | Mucolipidosis type IV | | | -| MONDO:0869178 | tako-tsubo cardiomyopathy | GARD:9400 | MONDO:equivalentTo | Tako-Tsubo cardiomyopathy | | | -| MONDO:0869179 | phyllodes tumor of the prostate | GARD:9404 | MONDO:equivalentTo | Phyllodes tumor of the prostate | | | -| MONDO:0869180 | x-linked cerebral adrenoleukodystrophy | GARD:9412 | MONDO:equivalentTo | X-linked cerebral adrenoleukodystrophy | | | -| MONDO:0869181 | cochleosaccular degeneration-cataract syndrome | GARD:9418 | MONDO:equivalentTo | Cochleosaccular degeneration-cataract syndrome | | | -| MONDO:0869182 | diphyllobothriasis | GARD:942 | MONDO:equivalentTo | Diphyllobothriasis | | | -| MONDO:0869183 | pierson syndrome | GARD:9420 | MONDO:equivalentTo | Pierson syndrome | | | -| MONDO:0869184 | rhizomelic chondrodysplasia punctata type 2 | GARD:9429 | MONDO:equivalentTo | Rhizomelic chondrodysplasia punctata type 2 | | | -| MONDO:0869185 | botulism | GARD:943 | MONDO:equivalentTo | Botulism | | | -| MONDO:0869186 | congenital thrombotic thrombocytopenic purpura | GARD:9430 | MONDO:equivalentTo | Congenital thrombotic thrombocytopenic purpura | | | -| MONDO:0869187 | organic aciduria | GARD:9433 | MONDO:equivalentTo | Organic aciduria | | | -| MONDO:0869188 | ataxia-hypogonadism-choroidal dystrophy syndrome | GARD:944 | MONDO:equivalentTo | Ataxia-hypogonadism-choroidal dystrophy syndrome | | | -| MONDO:0869189 | temple-baraitser syndrome | GARD:9441 | MONDO:equivalentTo | Temple-Baraitser syndrome | | | -| MONDO:0869190 | glycogen storage disease due to glycogen debranching enzyme deficiency | GARD:9442 | MONDO:equivalentTo | Glycogen storage disease due to glycogen debranching enzyme deficiency | | | -| MONDO:0869191 | severe achondroplasia-developmental delay-acanthosis nigricans syndrome | GARD:9443 | MONDO:equivalentTo | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | | | -| MONDO:0869192 | marburg hemorrhagic fever | GARD:9444 | MONDO:equivalentTo | Marburg hemorrhagic fever | | | -| MONDO:0869193 | infantile neuronal ceroid lipofuscinosis | GARD:9447 | MONDO:equivalentTo | Infantile neuronal ceroid lipofuscinosis | | | -| MONDO:0869194 | camptodactyly of fingers | GARD:9448 | MONDO:equivalentTo | Camptodactyly of fingers | | | -| MONDO:0869195 | waterhouse-friderichsen syndrome | GARD:9449 | MONDO:equivalentTo | Waterhouse-Friderichsen syndrome | | | -| MONDO:0869196 | familial juvenile hypertrophy of the breast | GARD:9450 | MONDO:equivalentTo | Familial juvenile hypertrophy of the breast | | | -| MONDO:0869197 | pilomatrixoma | GARD:9452 | MONDO:equivalentTo | Pilomatrixoma | | | -| MONDO:0869198 | andersen-tawil syndrome | GARD:9453 | MONDO:equivalentTo | Andersen-Tawil syndrome | | | -| MONDO:0869199 | joubert syndrome with oculorenal defect | GARD:9455 | MONDO:equivalentTo | Joubert syndrome with oculorenal defect | | | -| MONDO:0869200 | x-linked sideroblastic anemia | GARD:9456 | MONDO:equivalentTo | X-linked sideroblastic anemia | | | -| MONDO:0869201 | isolated polycystic liver disease | GARD:9457 | MONDO:equivalentTo | Isolated polycystic liver disease | | | -| MONDO:0869202 | pseudodiastrophic dysplasia | GARD:9463 | MONDO:equivalentTo | Pseudodiastrophic dysplasia | | | -| MONDO:0869203 | anaplastic oligodendroglioma | GARD:9472 | MONDO:equivalentTo | Anaplastic oligodendroglioma | | | -| MONDO:0869204 | melorheostosis | GARD:9474 | MONDO:equivalentTo | Melorheostosis | | | -| MONDO:0869205 | vitamin b12-responsive methylmalonic acidemia type cblb | GARD:9479 | MONDO:equivalentTo | Vitamin B12-responsive methylmalonic acidemia type cblB | | | -| MONDO:0869206 | autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis | GARD:9481 | MONDO:equivalentTo | Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis | | | -| MONDO:0869207 | superficial siderosis | GARD:9484 | MONDO:equivalentTo | Superficial siderosis | | | -| MONDO:0869208 | isolated congenital anosmia | GARD:9486 | MONDO:equivalentTo | Isolated congenital anosmia | | | -| MONDO:0869209 | cyprus facial-neuromusculoskeletal syndrome | GARD:9487 | MONDO:equivalentTo | Cyprus facial-neuromusculoskeletal syndrome | | | -| MONDO:0869210 | isolated congenital breast hypoplasia/aplasia | GARD:9489 | MONDO:equivalentTo | Isolated congenital breast hypoplasia/aplasia | | | -| MONDO:0869211 | gne myopathy | GARD:9493 | MONDO:equivalentTo | GNE myopathy | | | -| MONDO:0869212 | hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome | GARD:9494 | MONDO:equivalentTo | Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome | | | -| MONDO:0869213 | hereditary renal hypouricemia | GARD:9496 | MONDO:equivalentTo | Hereditary renal hypouricemia | | | -| MONDO:0869214 | aceruloplasminemia | GARD:9499 | MONDO:equivalentTo | Aceruloplasminemia | | | -| MONDO:0869215 | mulibrey nanism | GARD:95 | MONDO:equivalentTo | Mulibrey nanism | | | -| MONDO:0869216 | hereditary geniospasm | GARD:9501 | MONDO:equivalentTo | Hereditary geniospasm | | | -| MONDO:0869217 | craniosynostosis-anal anomalies-porokeratosis syndrome | GARD:9506 | MONDO:equivalentTo | Craniosynostosis-anal anomalies-porokeratosis syndrome | | | -| MONDO:0869218 | cerulean cataract | GARD:9508 | MONDO:equivalentTo | Cerulean cataract | | | -| MONDO:0869219 | renpenning syndrome | GARD:9509 | MONDO:equivalentTo | Renpenning syndrome | | | -| MONDO:0869220 | histiocytoid cardiomyopathy | GARD:9511 | MONDO:equivalentTo | Histiocytoid cardiomyopathy | | | -| MONDO:0869221 | phyllodes tumor of the breast | GARD:9514 | MONDO:equivalentTo | Phyllodes tumor of the breast | | | -| MONDO:0869222 | bilateral multicystic dysplastic kidney | GARD:9517 | MONDO:equivalentTo | Bilateral multicystic dysplastic kidney | | | -| MONDO:0869223 | coccidioidomycosis | GARD:9525 | MONDO:equivalentTo | Coccidioidomycosis | | | -| MONDO:0869224 | cyclosporosis | GARD:9528 | MONDO:equivalentTo | Cyclosporosis | | | -| MONDO:0869225 | congenital bowing of long bones | GARD:953 | MONDO:equivalentTo | Congenital bowing of long bones | | | -| MONDO:0869226 | chronic epstein-barr virus infection syndrome | GARD:9534 | MONDO:equivalentTo | Chronic Epstein-Barr virus infection syndrome | | | -| MONDO:0869227 | familial cold urticaria | GARD:9535 | MONDO:equivalentTo | Familial cold urticaria | | | -| MONDO:0869228 | melioidosis | GARD:9546 | MONDO:equivalentTo | Melioidosis | | | -| MONDO:0869229 | branchioskeletogenital syndrome | GARD:955 | MONDO:equivalentTo | Branchioskeletogenital syndrome | | | -| MONDO:0869230 | variant creutzfeldt-jakob disease | GARD:9550 | MONDO:equivalentTo | Variant Creutzfeldt-Jakob disease | | | -| MONDO:0869231 | post-transplant lymphoproliferative disease | GARD:9553 | MONDO:equivalentTo | Post-transplant lymphoproliferative disease | | | -| MONDO:0869232 | rat-bite fever | GARD:9557 | MONDO:equivalentTo | Rat-bite fever | | | -| MONDO:0869233 | autosomal dominant severe congenital neutropenia | GARD:9558 | MONDO:equivalentTo | Autosomal dominant severe congenital neutropenia | | | -| MONDO:0869234 | bacterial toxic-shock syndrome | GARD:9560 | MONDO:equivalentTo | Bacterial toxic-shock syndrome | | | -| MONDO:0869235 | typhoid | GARD:9564 | MONDO:equivalentTo | Typhoid | | | -| MONDO:0869236 | igg4-related retroperitoneal fibrosis | GARD:9568 | MONDO:equivalentTo | IgG4-related retroperitoneal fibrosis | | | -| MONDO:0869237 | dermatofibrosarcoma protuberans | GARD:9569 | MONDO:equivalentTo | Dermatofibrosarcoma protuberans | | | -| MONDO:0869238 | specc1l-related hypertelorism syndrome | GARD:957 | MONDO:equivalentTo | SPECC1L-related hypertelorism syndrome | | | -| MONDO:0869239 | hereditary clear cell renal cell carcinoma | GARD:9571 | MONDO:equivalentTo | Hereditary clear cell renal cell carcinoma | | | -| MONDO:0869240 | papillary renal cell carcinoma | GARD:9572 | MONDO:equivalentTo | Papillary renal cell carcinoma | | | -| MONDO:0869241 | collecting duct carcinoma | GARD:9573 | MONDO:equivalentTo | Collecting duct carcinoma | | | -| MONDO:0869242 | clear cell renal carcinoma | GARD:9574 | MONDO:equivalentTo | Clear cell renal carcinoma | | | -| MONDO:0869243 | acute fatty liver of pregnancy | GARD:9578 | MONDO:equivalentTo | Acute fatty liver of pregnancy | | | -| MONDO:0869244 | aymé-gripp syndrome | GARD:958 | MONDO:equivalentTo | Aymé-Gripp syndrome | | | -| MONDO:0869245 | autosomal recessive spastic paraplegia type 15 | GARD:9581 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 15 | | | -| MONDO:0869246 | autosomal recessive spastic paraplegia type 25 | GARD:9582 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 25 | | | -| MONDO:0869247 | autosomal dominant spastic paraplegia type 9a | GARD:9583 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 9A | | | -| MONDO:0869248 | x-linked spastic paraplegia type 16 | GARD:9585 | MONDO:equivalentTo | X-linked spastic paraplegia type 16 | | | -| MONDO:0869249 | autosomal dominant spastic paraplegia type 12 | GARD:9586 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 12 | | | -| MONDO:0869250 | autosomal recessive spastic paraplegia type 26 | GARD:9587 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 26 | | | -| MONDO:0869251 | autosomal dominant spastic paraplegia type 19 | GARD:9588 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 19 | | | -| MONDO:0869252 | autosomal recessive spastic paraplegia type 14 | GARD:9589 | MONDO:equivalentTo | Autosomal recessive spastic paraplegia type 14 | | | -| MONDO:0869253 | autosomal dominant spastic paraplegia type 10 | GARD:9590 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 10 | | | -| MONDO:0869254 | autosomal dominant spastic paraplegia type 8 | GARD:9591 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 8 | | | -| MONDO:0869255 | congenital atransferrinemia | GARD:9595 | MONDO:equivalentTo | Congenital atransferrinemia | | | -| MONDO:0869256 | brachydactylous dwarfism, mseleni type | GARD:960 | MONDO:equivalentTo | Brachydactylous dwarfism, Mseleni type | | | -| MONDO:0869257 | familial paroxysmal ataxia | GARD:9602 | MONDO:equivalentTo | Familial paroxysmal ataxia | | | -| MONDO:0869258 | spinocerebellar ataxia type 13 | GARD:9611 | MONDO:equivalentTo | Spinocerebellar ataxia type 13 | | | -| MONDO:0869259 | giant cell arteritis | GARD:9615 | MONDO:equivalentTo | Giant cell arteritis | | | -| MONDO:0869260 | autosomal dominant spastic paraplegia type 13 | GARD:9616 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 13 | | | -| MONDO:0869261 | acute erythroid leukemia | GARD:9620 | MONDO:equivalentTo | Acute erythroid leukemia | | | -| MONDO:0869262 | polyembryoma | GARD:9621 | MONDO:equivalentTo | Polyembryoma | | | -| MONDO:0869263 | rapid-onset dystonia-parkinsonism | GARD:9628 | MONDO:equivalentTo | Rapid-onset dystonia-parkinsonism | | | -| MONDO:0869264 | primary dystonia, dyt6 type | GARD:9630 | MONDO:equivalentTo | Primary dystonia, DYT6 type | | | -| MONDO:0869265 | odontoleukodystrophy | GARD:9632 | MONDO:equivalentTo | Odontoleukodystrophy | | | -| MONDO:0869266 | fetal akinesia deformation sequence | GARD:9634 | MONDO:equivalentTo | Fetal akinesia deformation sequence | | | -| MONDO:0869267 | pruritic urticarial papules and plaques of pregnancy | GARD:9635 | MONDO:equivalentTo | Pruritic urticarial papules and plaques of pregnancy | | | -| MONDO:0869268 | autosomal agammaglobulinemia | GARD:9640 | MONDO:equivalentTo | Autosomal agammaglobulinemia | | | -| MONDO:0869269 | pseudoxanthoma elasticum | GARD:9643 | MONDO:equivalentTo | Pseudoxanthoma elasticum | | | -| MONDO:0869270 | gelatinous drop-like corneal dystrophy | GARD:9647 | MONDO:equivalentTo | Gelatinous drop-like corneal dystrophy | | | -| MONDO:0869271 | oncogenic osteomalacia | GARD:9652 | MONDO:equivalentTo | Oncogenic osteomalacia | | | -| MONDO:0869272 | hydroa vacciniforme | GARD:9654 | MONDO:equivalentTo | Hydroa vacciniforme | | | -| MONDO:0869273 | anauxetic dysplasia | GARD:9657 | MONDO:equivalentTo | Anauxetic dysplasia | | | -| MONDO:0869274 | bartter syndrome type 3 | GARD:9659 | MONDO:equivalentTo | Bartter syndrome type 3 | | | -| MONDO:0869275 | brachydactyly-elbow wrist dysplasia syndrome | GARD:966 | MONDO:equivalentTo | Brachydactyly-elbow wrist dysplasia syndrome | | | -| MONDO:0869276 | gynandroblastoma | GARD:9665 | MONDO:equivalentTo | Gynandroblastoma | | | -| MONDO:0869277 | brachydactyly-arterial hypertension syndrome | GARD:967 | MONDO:equivalentTo | Brachydactyly-arterial hypertension syndrome | | | -| MONDO:0869278 | congenital factor xi deficiency | GARD:9670 | MONDO:equivalentTo | Congenital factor XI deficiency | | | -| MONDO:0869279 | mowat-wilson syndrome | GARD:9673 | MONDO:equivalentTo | Mowat-Wilson syndrome | | | -| MONDO:0869280 | isotretinoin-like syndrome | GARD:9675 | MONDO:equivalentTo | Isotretinoin-like syndrome | | | -| MONDO:0869281 | miyoshi myopathy | GARD:9676 | MONDO:equivalentTo | Miyoshi myopathy | | | -| MONDO:0869282 | granular corneal dystrophy type i | GARD:9677 | MONDO:equivalentTo | Granular corneal dystrophy type I | | | -| MONDO:0869283 | lattice corneal dystrophy type i | GARD:9678 | MONDO:equivalentTo | Lattice corneal dystrophy type I | | | -| MONDO:0869284 | temtamy preaxial brachydactyly syndrome | GARD:9679 | MONDO:equivalentTo | Temtamy preaxial brachydactyly syndrome | | | -| MONDO:0869285 | brachydactyly-long thumb syndrome | GARD:968 | MONDO:equivalentTo | Brachydactyly-long thumb syndrome | | | -| MONDO:0869286 | rhyns syndrome | GARD:9681 | MONDO:equivalentTo | RHYNS syndrome | | | -| MONDO:0869287 | rhizomelic chondrodysplasia punctata type 3 | GARD:9682 | MONDO:equivalentTo | Rhizomelic chondrodysplasia punctata type 3 | | | -| MONDO:0869288 | chylomicron retention disease | GARD:9683 | MONDO:equivalentTo | Chylomicron retention disease | | | -| MONDO:0869289 | sandifer syndrome | GARD:9684 | MONDO:equivalentTo | Sandifer syndrome | | | -| MONDO:0869290 | schistosomiasis | GARD:9687 | MONDO:equivalentTo | Schistosomiasis | | | -| MONDO:0869291 | meesmann corneal dystrophy | GARD:9688 | MONDO:equivalentTo | Meesmann corneal dystrophy | | | -| MONDO:0869292 | kienbock disease | GARD:9690 | MONDO:equivalentTo | Kienbock disease | | | -| MONDO:0869293 | congenital patella dislocation | GARD:9692 | MONDO:equivalentTo | Congenital patella dislocation | | | -| MONDO:0869294 | junctional epidermolysis bullosa with pyloric atresia | GARD:9694 | MONDO:equivalentTo | Junctional epidermolysis bullosa with pyloric atresia | | | -| MONDO:0869295 | ring dermoid of cornea | GARD:9696 | MONDO:equivalentTo | Ring dermoid of cornea | | | -| MONDO:0869296 | monomelic amyotrophy | GARD:9697 | MONDO:equivalentTo | Monomelic amyotrophy | | | -| MONDO:0869297 | recombinant 8 syndrome | GARD:9698 | MONDO:equivalentTo | Recombinant 8 syndrome | | | -| MONDO:0869298 | x-linked intellectual disability, siderius type | GARD:9704 | MONDO:equivalentTo | X-linked intellectual disability, Siderius type | | | -| MONDO:0869299 | ectodermal dysplasia-skin fragility syndrome | GARD:9705 | MONDO:equivalentTo | Ectodermal dysplasia-skin fragility syndrome | | | -| MONDO:0869300 | snowflake vitreoretinal degeneration | GARD:9706 | MONDO:equivalentTo | Snowflake vitreoretinal degeneration | | | -| MONDO:0869301 | familial cylindromatosis | GARD:9707 | MONDO:equivalentTo | Familial cylindromatosis | | | -| MONDO:0869302 | brachydactyly-nystagmus-cerebellar ataxia syndrome | GARD:971 | MONDO:equivalentTo | Brachydactyly-nystagmus-cerebellar ataxia syndrome | | | -| MONDO:0869303 | lathosterolosis | GARD:9711 | MONDO:equivalentTo | Lathosterolosis | | | -| MONDO:0869304 | griscelli syndrome type 3 | GARD:9715 | MONDO:equivalentTo | Griscelli syndrome type 3 | | | -| MONDO:0869305 | brachydactyly-preaxial hallux varus syndrome | GARD:972 | MONDO:equivalentTo | Brachydactyly-preaxial hallux varus syndrome | | | -| MONDO:0869306 | ectodermal dysplasia-sensorineural deafness syndrome | GARD:9723 | MONDO:equivalentTo | Ectodermal dysplasia-sensorineural deafness syndrome | | | -| MONDO:0869307 | nephrogenic systemic fibrosis | GARD:9725 | MONDO:equivalentTo | Nephrogenic systemic fibrosis | | | -| MONDO:0869308 | proximal myotonic myopathy | GARD:9728 | MONDO:equivalentTo | Proximal myotonic myopathy | | | -| MONDO:0869309 | autosomal dominant spastic paraplegia type 29 | GARD:9729 | MONDO:equivalentTo | Autosomal dominant spastic paraplegia type 29 | | | -| MONDO:0869310 | glycogen storage disease due to lamp-2 deficiency | GARD:9730 | MONDO:equivalentTo | Glycogen storage disease due to LAMP-2 deficiency | | | -| MONDO:0869311 | epithelial basement membrane dystrophy | GARD:9732 | MONDO:equivalentTo | Epithelial basement membrane dystrophy | | | -| MONDO:0869312 | congenital non-bullous ichthyosiform erythroderma | GARD:9736 | MONDO:equivalentTo | Congenital non-bullous ichthyosiform erythroderma | | | -| MONDO:0869313 | epidermolysis bullosa simplex with mottled pigmentation | GARD:9737 | MONDO:equivalentTo | Epidermolysis bullosa simplex with mottled pigmentation | | | -| MONDO:0869314 | familial atrial fibrillation | GARD:9740 | MONDO:equivalentTo | Familial atrial fibrillation | | | -| MONDO:0869315 | neurological conditions associated with aminoacylase 1 deficiency | GARD:9741 | MONDO:equivalentTo | Neurological conditions associated with aminoacylase 1 deficiency | | | -| MONDO:0869316 | ankylostomiasis | GARD:9742 | MONDO:equivalentTo | Ankylostomiasis | | | -| MONDO:0869317 | atrophoderma vermiculata | GARD:9744 | MONDO:equivalentTo | Atrophoderma vermiculata | | | -| MONDO:0869318 | systemic sclerosis | GARD:9748 | MONDO:equivalentTo | Systemic sclerosis | | | -| MONDO:0869319 | limited systemic sclerosis | GARD:9749 | MONDO:equivalentTo | Limited systemic sclerosis | | | -| MONDO:0869320 | diffuse cutaneous systemic sclerosis | GARD:9751 | MONDO:equivalentTo | Diffuse cutaneous systemic sclerosis | | | -| MONDO:0869321 | infantile nephropathic cystinosis | GARD:9755 | MONDO:equivalentTo | Infantile nephropathic cystinosis | | | -| MONDO:0869322 | ocular cystinosis | GARD:9756 | MONDO:equivalentTo | Ocular cystinosis | | | -| MONDO:0869323 | familial hypocalciuric hypercalcemia type 2 | GARD:9758 | MONDO:equivalentTo | Familial hypocalciuric hypercalcemia type 2 | | | -| MONDO:0869324 | leukonychia totalis | GARD:9759 | MONDO:equivalentTo | Leukonychia totalis | | | -| MONDO:0869325 | isolated congenital onychodysplasia | GARD:9761 | MONDO:equivalentTo | Isolated congenital onychodysplasia | | | -| MONDO:0869326 | potocki-shaffer syndrome | GARD:9762 | MONDO:equivalentTo | Potocki-Shaffer syndrome | | | -| MONDO:0869327 | morvan syndrome | GARD:9766 | MONDO:equivalentTo | Morvan syndrome | | | -| MONDO:0869328 | necrotizing enterocolitis | GARD:9767 | MONDO:equivalentTo | Necrotizing enterocolitis | | | -| MONDO:0869329 | oligoastrocytoma | GARD:9769 | MONDO:equivalentTo | Oligoastrocytoma | | | -| MONDO:0869330 | dowling-degos disease | GARD:9775 | MONDO:equivalentTo | Dowling-Degos disease | | | -| MONDO:0869331 | canomad syndrome | GARD:9778 | MONDO:equivalentTo | CANOMAD syndrome | | | -| MONDO:0869332 | brachydactyly type a1 | GARD:978 | MONDO:equivalentTo | Brachydactyly type A1 | | | -| MONDO:0869333 | proximal xq28 duplication syndrome | GARD:9781 | MONDO:equivalentTo | Proximal Xq28 duplication syndrome | | | -| MONDO:0869334 | parkes weber syndrome | GARD:9787 | MONDO:equivalentTo | Parkes Weber syndrome | | | -| MONDO:0869335 | rare lymphatic malformation | GARD:9789 | MONDO:equivalentTo | Rare lymphatic malformation | | | -| MONDO:0869336 | brachydactyly type a2 | GARD:979 | MONDO:equivalentTo | Brachydactyly type A2 | | | -| MONDO:0869337 | multiple epiphyseal dysplasia type 4 | GARD:9793 | MONDO:equivalentTo | Multiple epiphyseal dysplasia type 4 | | | -| MONDO:0869338 | multiple epiphyseal dysplasia type 5 | GARD:9794 | MONDO:equivalentTo | Multiple epiphyseal dysplasia type 5 | | | -| MONDO:0869339 | naxos disease | GARD:9795 | MONDO:equivalentTo | Naxos disease | | | -| MONDO:0869340 | autoimmune lymphoproliferative syndrome with recurrent viral infections | GARD:9796 | MONDO:equivalentTo | Autoimmune lymphoproliferative syndrome with recurrent viral infections | | | -| MONDO:0869341 | dianzani autoimmune lymphoproliferative disease | GARD:9797 | MONDO:equivalentTo | Dianzani autoimmune lymphoproliferative disease | | | -| MONDO:0869342 | auriculocondylar syndrome | GARD:9798 | MONDO:equivalentTo | Auriculocondylar syndrome | | | -| MONDO:0869343 | familial cutaneous collagenoma | GARD:9799 | MONDO:equivalentTo | Familial cutaneous collagenoma | | | -| MONDO:0869344 | progressive familial intrahepatic cholestasis type 1 | GARD:9802 | MONDO:equivalentTo | Progressive familial intrahepatic cholestasis type 1 | | | -| MONDO:0869345 | progressive familial intrahepatic cholestasis type 4 | GARD:9803 | MONDO:equivalentTo | Progressive familial intrahepatic cholestasis type 4 | | | -| MONDO:0869346 | intrahepatic cholestasis of pregnancy | GARD:9804 | MONDO:equivalentTo | Intrahepatic cholestasis of pregnancy | | | -| MONDO:0869347 | vibratory urticaria | GARD:9806 | MONDO:equivalentTo | Vibratory urticaria | | | -| MONDO:0869348 | pilocytic astrocytoma | GARD:9808 | MONDO:equivalentTo | Pilocytic astrocytoma | | | -| MONDO:0869349 | enteropathy-associated t-cell lymphoma | GARD:9809 | MONDO:equivalentTo | Enteropathy-associated T-cell lymphoma | | | -| MONDO:0869350 | dyssegmental dysplasia, rolland-desbuquois type | GARD:9810 | MONDO:equivalentTo | Dyssegmental dysplasia, Rolland-Desbuquois type | | | -| MONDO:0869351 | intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome | GARD:9811 | MONDO:equivalentTo | Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome | | | -| MONDO:0869352 | t-cell large granular lymphocyte leukemia | GARD:9812 | MONDO:equivalentTo | T-cell large granular lymphocyte leukemia | | | -| MONDO:0869353 | congenital bile acid synthesis defect type 1 | GARD:9813 | MONDO:equivalentTo | Congenital bile acid synthesis defect type 1 | | | -| MONDO:0869354 | autosomal dominant dopa-responsive dystonia | GARD:9817 | MONDO:equivalentTo | Autosomal dominant dopa-responsive dystonia | | | -| MONDO:0869355 | developmental malformations-deafness-dystonia syndrome | GARD:9818 | MONDO:equivalentTo | Developmental malformations-deafness-dystonia syndrome | | | -| MONDO:0869356 | catastrophic antiphospholipid syndrome | GARD:9820 | MONDO:equivalentTo | Catastrophic antiphospholipid syndrome | | | -| MONDO:0869357 | pattern dystrophy | GARD:9821 | MONDO:equivalentTo | Pattern dystrophy | | | -| MONDO:0869358 | pmm2-cdg | GARD:9826 | MONDO:equivalentTo | PMM2-CDG | | | -| MONDO:0869359 | alg3-cdg | GARD:9827 | MONDO:equivalentTo | ALG3-CDG | | | -| MONDO:0869360 | mgat2-cdg | GARD:9828 | MONDO:equivalentTo | MGAT2-CDG | | | -| MONDO:0869361 | alg6-cdg | GARD:9829 | MONDO:equivalentTo | ALG6-CDG | | | -| MONDO:0869362 | brachydactyly type a6 | GARD:983 | MONDO:equivalentTo | Brachydactyly type A6 | | | -| MONDO:0869363 | mpi-cdg | GARD:9830 | MONDO:equivalentTo | MPI-CDG | | | -| MONDO:0869364 | dpm1-cdg | GARD:9831 | MONDO:equivalentTo | DPM1-CDG | | | -| MONDO:0869365 | mpdu1-cdg | GARD:9832 | MONDO:equivalentTo | MPDU1-CDG | | | -| MONDO:0869366 | alg12-cdg | GARD:9833 | MONDO:equivalentTo | ALG12-CDG | | | -| MONDO:0869367 | alg8-cdg | GARD:9834 | MONDO:equivalentTo | ALG8-CDG | | | -| MONDO:0869368 | emanuel syndrome | GARD:9835 | MONDO:equivalentTo | Emanuel syndrome | | | -| MONDO:0869369 | alg2-cdg | GARD:9836 | MONDO:equivalentTo | ALG2-CDG | | | -| MONDO:0869370 | dpagt1-cdg | GARD:9837 | MONDO:equivalentTo | DPAGT1-CDG | | | -| MONDO:0869371 | alg1-cdg | GARD:9838 | MONDO:equivalentTo | ALG1-CDG | | | -| MONDO:0869372 | alg9-cdg | GARD:9839 | MONDO:equivalentTo | ALG9-CDG | | | -| MONDO:0869373 | brachydactyly type a7 | GARD:984 | MONDO:equivalentTo | Brachydactyly type A7 | | | -| MONDO:0869374 | b4galt1-cdg | GARD:9841 | MONDO:equivalentTo | B4GALT1-CDG | | | -| MONDO:0869375 | cog7-cdg | GARD:9842 | MONDO:equivalentTo | COG7-CDG | | | -| MONDO:0869376 | primary familial polycythemia | GARD:9843 | MONDO:equivalentTo | Primary familial polycythemia | | | -| MONDO:0869377 | microcephalic osteodysplastic primordial dwarfism type ii | GARD:9844 | MONDO:equivalentTo | Microcephalic osteodysplastic primordial dwarfism type II | | | -| MONDO:0869378 | heart-hand syndrome, slovenian type | GARD:9846 | MONDO:equivalentTo | Heart-hand syndrome, Slovenian type | | | -| MONDO:0869379 | heart-hand syndrome type 2 | GARD:9847 | MONDO:equivalentTo | Heart-hand syndrome type 2 | | | -| MONDO:0869380 | congenital brain dysgenesis due to glutamine synthetase deficiency | GARD:9848 | MONDO:equivalentTo | Congenital brain dysgenesis due to glutamine synthetase deficiency | | | -| MONDO:0869381 | goldberg-shprintzen megacolon syndrome | GARD:9849 | MONDO:equivalentTo | Goldberg-Shprintzen megacolon syndrome | | | -| MONDO:0869382 | brachydactyly type b | GARD:985 | MONDO:equivalentTo | Brachydactyly type B | | | -| MONDO:0869383 | omphalocele syndrome, shprintzen-goldberg type | GARD:9850 | MONDO:equivalentTo | Omphalocele syndrome, Shprintzen-Goldberg type | | | -| MONDO:0869384 | brachydactyly type c | GARD:986 | MONDO:equivalentTo | Brachydactyly type C | | | -| MONDO:0869385 | spondyloepimetaphyseal dysplasia with multiple dislocations | GARD:9866 | MONDO:equivalentTo | Spondyloepimetaphyseal dysplasia with multiple dislocations | | | -| MONDO:0869386 | spinocerebellar ataxia type 14 | GARD:9867 | MONDO:equivalentTo | Spinocerebellar ataxia type 14 | | | -| MONDO:0869387 | brachydactyly type e | GARD:987 | MONDO:equivalentTo | Brachydactyly type E | | | -| MONDO:0869388 | hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency | GARD:9870 | MONDO:equivalentTo | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | -| MONDO:0869389 | lateral meningocele syndrome | GARD:9873 | MONDO:equivalentTo | Lateral meningocele syndrome | | | -| MONDO:0869390 | fibular aplasia-complex brachydactyly syndrome | GARD:9879 | MONDO:equivalentTo | Fibular aplasia-complex brachydactyly syndrome | | | -| MONDO:0869391 | hyperandrogenism due to cortisone reductase deficiency | GARD:9882 | MONDO:equivalentTo | Hyperandrogenism due to cortisone reductase deficiency | | | -| MONDO:0869392 | juvenile myelomonocytic leukemia | GARD:9884 | MONDO:equivalentTo | Juvenile myelomonocytic leukemia | | | -| MONDO:0869393 | ichthyosis-prematurity syndrome | GARD:9886 | MONDO:equivalentTo | Ichthyosis-prematurity syndrome | | | -| MONDO:0869394 | benign concentric annular macular dystrophy | GARD:9887 | MONDO:equivalentTo | Benign concentric annular macular dystrophy | | | -| MONDO:0869395 | pyruvate dehydrogenase phosphatase deficiency | GARD:9888 | MONDO:equivalentTo | Pyruvate dehydrogenase phosphatase deficiency | | | -| MONDO:0869396 | autosomal dominant optic atrophy, classic form | GARD:9890 | MONDO:equivalentTo | Autosomal dominant optic atrophy, classic form | | | -| MONDO:0869397 | posterior column ataxia-retinitis pigmentosa syndrome | GARD:9898 | MONDO:equivalentTo | Posterior column ataxia-retinitis pigmentosa syndrome | | | -| MONDO:0869398 | brachydactyly type a4 | GARD:990 | MONDO:equivalentTo | Brachydactyly type A4 | | | -| MONDO:0869399 | congenital pulmonary lymphangiectasia | GARD:9900 | MONDO:equivalentTo | Congenital pulmonary lymphangiectasia | | | -| MONDO:0869400 | polysyndactyly | GARD:9903 | MONDO:equivalentTo | Polysyndactyly | | | -| MONDO:0869401 | osteosclerosis-ichthyosis-premature ovarian failure syndrome | GARD:9904 | MONDO:equivalentTo | Osteosclerosis-ichthyosis-premature ovarian failure syndrome | | | -| MONDO:0869402 | lynch syndrome | GARD:9905 | MONDO:equivalentTo | Lynch syndrome | | | -| MONDO:0869403 | lethal acantholytic erosive disorder | GARD:9910 | MONDO:equivalentTo | Lethal acantholytic erosive disorder | | | -| MONDO:0869404 | lennox-gastaut syndrome | GARD:9912 | MONDO:equivalentTo | Lennox-Gastaut syndrome | | | -| MONDO:0869405 | oculoosteocutaneous syndrome | GARD:992 | MONDO:equivalentTo | Oculoosteocutaneous syndrome | | | -| MONDO:0869406 | mitochondrial neurogastrointestinal encephalomyopathy | GARD:9920 | MONDO:equivalentTo | Mitochondrial neurogastrointestinal encephalomyopathy | | | -| MONDO:0869407 | nasu-hakola disease | GARD:9921 | MONDO:equivalentTo | Nasu-Hakola disease | | | -| MONDO:0869408 | hyperinsulinism-hyperammonemia syndrome | GARD:9931 | MONDO:equivalentTo | Hyperinsulinism-hyperammonemia syndrome | | | -| MONDO:0869409 | exercise-induced hyperinsulinism | GARD:9932 | MONDO:equivalentTo | Exercise-induced hyperinsulinism | | | -| MONDO:0869410 | hypohidrotic ectodermal dysplasia with immunodeficiency | GARD:9936 | MONDO:equivalentTo | Hypohidrotic ectodermal dysplasia with immunodeficiency | | | -| MONDO:0869411 | spondyloepiphyseal dysplasia, maroteaux type | GARD:994 | MONDO:equivalentTo | Spondyloepiphyseal dysplasia, Maroteaux type | | | -| MONDO:0869412 | cednik syndrome | GARD:9940 | MONDO:equivalentTo | CEDNIK syndrome | | | -| MONDO:0869413 | facioscapulohumeral dystrophy | GARD:9941 | MONDO:equivalentTo | Facioscapulohumeral dystrophy | | | -| MONDO:0869414 | x-linked intellectual disability-cerebellar hypoplasia syndrome | GARD:9947 | MONDO:equivalentTo | X-linked intellectual disability-cerebellar hypoplasia syndrome | | | -| MONDO:0869415 | spinocerebellar ataxia type 23 | GARD:9950 | MONDO:equivalentTo | Spinocerebellar ataxia type 23 | | | -| MONDO:0869416 | spinocerebellar ataxia type 28 | GARD:9951 | MONDO:equivalentTo | Spinocerebellar ataxia type 28 | | | -| MONDO:0869417 | congenital primary aphakia | GARD:9952 | MONDO:equivalentTo | Congenital primary aphakia | | | -| MONDO:0869418 | oligodendroglioma | GARD:9953 | MONDO:equivalentTo | Oligodendroglioma | | | -| MONDO:0869419 | west-nile encephalitis | GARD:9959 | MONDO:equivalentTo | West-Nile encephalitis | | | -| MONDO:0869420 | spinocerebellar ataxia type 27 | GARD:9963 | MONDO:equivalentTo | Spinocerebellar ataxia type 27 | | | -| MONDO:0869421 | glycogen storage disease due to phosphoglycerate mutase deficiency | GARD:9964 | MONDO:equivalentTo | Glycogen storage disease due to phosphoglycerate mutase deficiency | | | -| MONDO:0869422 | hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | GARD:9965 | MONDO:equivalentTo | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | | | -| MONDO:0869423 | spinocerebellar ataxia type 4 | GARD:9970 | MONDO:equivalentTo | Spinocerebellar ataxia type 4 | | | -| MONDO:0869424 | autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | GARD:9971 | MONDO:equivalentTo | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | | | -| MONDO:0869425 | spinocerebellar ataxia type 31 | GARD:9975 | MONDO:equivalentTo | Spinocerebellar ataxia type 31 | | | -| MONDO:0869426 | spinocerebellar ataxia type 18 | GARD:9976 | MONDO:equivalentTo | Spinocerebellar ataxia type 18 | | | -| MONDO:0869427 | camos syndrome | GARD:9977 | MONDO:equivalentTo | CAMOS syndrome | | | -| MONDO:0869428 | craniosynostosis-dandy-walker malformation-hydrocephalus syndrome | GARD:998 | MONDO:equivalentTo | Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome | | | -| MONDO:0869429 | x-linked spinocerebellar ataxia type 4 | GARD:9980 | MONDO:equivalentTo | X-linked spinocerebellar ataxia type 4 | | | -| MONDO:0869430 | x-linked spinocerebellar ataxia type 3 | GARD:9981 | MONDO:equivalentTo | X-linked spinocerebellar ataxia type 3 | | | -| MONDO:0869431 | x-linked intellectual disability, miles-carpenter type | GARD:9984 | MONDO:equivalentTo | X-linked intellectual disability, Miles-Carpenter type | | | -| MONDO:0869432 | severe combined immunodeficiency due to dclre1c deficiency | GARD:9987 | MONDO:equivalentTo | Severe combined immunodeficiency due to DCLRE1C deficiency | | | -| MONDO:0869433 | mandibuloacral dysplasia with type b lipodystrophy | GARD:9989 | MONDO:equivalentTo | Mandibuloacral dysplasia with type B lipodystrophy | | | -| MONDO:0869434 | b4galt7-related spondylodysplastic ehlers-danlos syndrome | GARD:9991 | MONDO:equivalentTo | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | | | -| MONDO:0869435 | riboflavin transporter deficiency | GARD:9993 | MONDO:equivalentTo | Riboflavin transporter deficiency | | | -| MONDO:0869436 | clark-baraitser syndrome | GARD:9994 | MONDO:equivalentTo | Clark-Baraitser syndrome | | | -| MONDO:0869437 | spinocerebellar ataxia type 26 | GARD:9995 | MONDO:equivalentTo | Spinocerebellar ataxia type 26 | | | -| MONDO:0869438 | spinocerebellar ataxia type 25 | GARD:9996 | MONDO:equivalentTo | Spinocerebellar ataxia type 25 | | | -| MONDO:0869439 | spinocerebellar ataxia type 20 | GARD:9997 | MONDO:equivalentTo | Spinocerebellar ataxia type 20 | | | -| MONDO:0869440 | sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | GARD:9998 | MONDO:equivalentTo | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | -| MONDO:0869441 | spinocerebellar ataxia type 21 | GARD:9999 | MONDO:equivalentTo | Spinocerebellar ataxia type 21 | | | \ No newline at end of file diff --git a/docs/reports/unmapped_gard.md b/docs/reports/unmapped_gard.md deleted file mode 100644 index f0366a89..00000000 --- a/docs/reports/unmapped_gard.md +++ /dev/null @@ -1,12010 +0,0 @@ -## GARD -[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/gard_mapping_status.tsv) - -### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:-------------|:------------------------------------------------------------------------------------------------------------------------------------| -| GARD:17280 | 10q22.3q23.3 microdeletion syndrome | -| GARD:21052 | 10q22.3q23.3 microduplication syndrome | -| GARD:21232 | 11p15.4 microduplication syndrome | -| GARD:21858 | 11q22.2q22.3 microdeletion syndrome | -| GARD:17414 | 12p12.1 microdeletion syndrome | -| GARD:13390 | 12q14 microdeletion syndrome | -| GARD:21141 | 12q15q21.1 microdeletion syndrome | -| GARD:21737 | 13q12.3 microdeletion syndrome | -| GARD:17241 | 14q11.2 microdeletion syndrome | -| GARD:20773 | 14q11.2 microduplication syndrome | -| GARD:2384 | 14q22q23 microdeletion syndrome | -| GARD:21706 | 14q24.1q24.3 microdeletion syndrome | -| GARD:17890 | 14q32 duplication syndrome | -| GARD:17423 | 15q overgrowth syndrome | -| GARD:10525 | 15q11.2 microdeletion syndrome | -| GARD:17172 | 15q11q13 microduplication syndrome | -| GARD:10296 | 15q13.3 microdeletion syndrome | -| GARD:17242 | 15q14 microdeletion syndrome | -| GARD:12219 | 15q24 microdeletion syndrome | -| GARD:17243 | 16p11.2p12.2 microdeletion syndrome | -| GARD:20772 | 16p11.2p12.2 microduplication syndrome | -| GARD:21993 | 16p12.1p12.3 triplication syndrome | -| GARD:20774 | 16p13.11 microdeletion syndrome | -| GARD:20775 | 16p13.11 microduplication syndrome | -| GARD:17920 | 16p13.2 microdeletion syndrome | -| GARD:10755 | 16p13.3 microduplication syndrome | -| GARD:21523 | 16q24.1 microdeletion syndrome | -| GARD:10935 | 16q24.3 microdeletion syndrome | -| GARD:10145 | 17p11.2 microduplication syndrome | -| GARD:17122 | 17p13.3 microduplication syndrome | -| GARD:5408 | 17q11 microdeletion syndrome | -| GARD:16952 | 17q11.2 microduplication syndrome | -| GARD:13297 | 17q12 microdeletion syndrome | -| GARD:13296 | 17q12 microduplication syndrome | -| GARD:17576 | 17q21.31 microdeletion syndrome | -| GARD:17121 | 17q21.31 microduplication syndrome | -| GARD:10936 | 17q23.1q23.2 microdeletion syndrome | -| GARD:22202 | 17q24.2 microdeletion syndrome | -| GARD:10991 | 19p13.12 microdeletion syndrome | -| GARD:17542 | 19p13.13 microdeletion syndrome | -| GARD:21875 | 19p13.3 microduplication syndrome | -| GARD:10592 | 19q13.11 microdeletion syndrome | -| GARD:21173 | 1p21.3 microdeletion syndrome | -| GARD:17668 | 1p31p32 microdeletion syndrome | -| GARD:21898 | 1p35.2 microdeletion syndrome | -| GARD:6082 | 1p36 deletion syndrome | -| GARD:10813 | 1q21.1 microdeletion syndrome | -| GARD:10591 | 1q21.1 microduplication syndrome | -| GARD:3738 | 1q41q42 microdeletion syndrome | -| GARD:10943 | 1q44 microdeletion syndrome | -| GARD:16708 | 2-aminoadipic 2-oxoadipic aciduria | -| GARD:10761 | 2-hydroxyglutaric aciduria | -| GARD:10322 | 2-methylbutyryl-CoA dehydrogenase deficiency | -| GARD:12492 | 20p12.3 microdeletion syndrome | -| GARD:21360 | 20p13 microdeletion syndrome | -| GARD:21859 | 20q11.2 microdeletion syndrome | -| GARD:21556 | 20q11.2 microduplication syndrome | -| GARD:20778 | 20q13.33 microdeletion syndrome | -| GARD:20779 | 21q22.11q22.12 microdeletion syndrome | -| GARD:10299 | 22q11.2 deletion syndrome | -| GARD:10557 | 22q11.2 duplication syndrome | -| GARD:21557 | 2p13.2 microdeletion syndrome | -| GARD:13391 | 2p15p16.1 microdeletion syndrome | -| GARD:16999 | 2p21 microdeletion syndrome | -| GARD:21581 | 2p21 microdeletion syndrome without cystinuria | -| GARD:10998 | 2q23.1 microdeletion syndrome | -| GARD:21363 | 2q23.1 microduplication syndrome | -| GARD:3746 | 2q24 microdeletion syndrome | -| GARD:20690 | 2q31.1 microdeletion syndrome | -| GARD:13206 | 2q32q33 microdeletion syndrome | -| GARD:10202 | 2q37 microdeletion syndrome | -| GARD:8387 | 3-hydroxy-3-methylglutaric aciduria | -| GARD:2712 | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | -| GARD:21319 | 3-hydroxyacyl-CoA dehydrogenase deficiency | -| GARD:5662 | 3-hydroxyisobutyric aciduria | -| GARD:10954 | 3-methylcrotonyl-CoA carboxylase deficiency | -| GARD:5665 | 3-methylcrotonyl-coa carboxylase 1 deficiency | -| GARD:9151 | 3-methylcrotonyl-coa carboxylase 2 deficiency | -| GARD:12966 | 3-methylglutaconic aciduria | -| GARD:10321 | 3-methylglutaconic aciduria type 1 | -| GARD:5663 | 3-methylglutaconic aciduria type 3 | -| GARD:10342 | 3-methylglutaconic aciduria type 4 | -| GARD:17767 | 3-methylglutaconic aciduria type 7 | -| GARD:22050 | 3-methylglutaconic aciduria type 8 | -| GARD:17940 | 3-methylglutaconic aciduria type 9 | -| GARD:16718 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | -| GARD:16717 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | -| GARD:5666 | 3C syndrome | -| GARD:5667 | 3M syndrome | -| GARD:1118 | 3MC syndrome | -| GARD:4049 | 3mc syndrome 1 | -| GARD:18428 | 3mc syndrome 2 | -| GARD:8531 | 3mc syndrome 3 | -| GARD:21813 | 3p25.3 microdeletion syndrome | -| GARD:16573 | 3q13 microdeletion syndrome | -| GARD:19311 | 3q26 microduplication syndrome | -| GARD:21534 | 3q26q27 microdeletion syndrome | -| GARD:21633 | 3q27.3 microdeletion syndrome | -| GARD:11974 | 3q29 microdeletion syndrome | -| GARD:10360 | 3q29 microduplication syndrome | -| GARD:18747 | 45,X/46,XY mixed gonadal dysgenesis | -| GARD:21463 | 46,XX disorder of gonadal development | -| GARD:18783 | 46,XX disorder of sex development | -| GARD:19409 | 46,XX disorder of sex development induced by androgens excess | -| GARD:21465 | 46,XX disorder of sex development induced by endogenous maternal-derived androgen | -| GARD:21466 | 46,XX disorder of sex development induced by exogenous maternal-derived androgen | -| GARD:19148 | 46,XX disorder of sex development induced by fetal androgens excess | -| GARD:21464 | 46,XX disorder of sex development induced by fetoplacental androgens excess | -| GARD:19156 | 46,XX disorder of sex development induced by maternal-derived androgen | -| GARD:18782 | 46,XX disorder of sex development-anorectal anomalies syndrome | -| GARD:16617 | 46,XX disorder of sex development-skeletal anomalies syndrome | -| GARD:5671 | 46,XX gonadal dysgenesis | -| GARD:17760 | 46,XX ovarian dysgenesis-short stature syndrome | -| GARD:16585 | 46,XX ovotesticular disorder of sex development | -| GARD:399 | 46,XX testicular disorder of sex development | -| GARD:5068 | 46,XY complete gonadal dysgenesis | -| GARD:21468 | 46,XY disorder of gonadal development | -| GARD:8538 | 46,XY disorder of sex development | -| GARD:5659 | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | -| GARD:5680 | 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency | -| GARD:21472 | 46,XY disorder of sex development due to a cholesterol synthesis defect | -| GARD:19410 | 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue | -| GARD:19149 | 46,XY disorder of sex development due to a testosterone synthesis defect | -| GARD:19150 | 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect | -| GARD:21471 | 46,XY disorder of sex development due to impaired androgen production | -| GARD:16794 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | -| GARD:17752 | 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | -| GARD:19151 | 46,XY disorder of sex development due to testicular steroidogenesis defect | -| GARD:21475 | 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors | -| GARD:21470 | 46,XY disorder of sex development of endocrine origin | -| GARD:21478 | 46,XY disorder of sex development of gynecological interest | -| GARD:17033 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | -| GARD:21848 | 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect | -| GARD:17034 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | -| GARD:21469 | 46,XY ovotesticular disorder of sex development | -| GARD:17211 | 46,XY partial gonadal dysgenesis | -| GARD:15249 | 46,xx sex reversal 2 | -| GARD:15267 | 46,xx sex reversal 3 | -| GARD:16109 | 46,xy sex reversal 10 | -| GARD:9159 | 46,xy sex reversal 2 | -| GARD:15598 | 46,xy sex reversal 3 | -| GARD:15083 | 46,xy sex reversal 4 | -| GARD:15611 | 46,xy sex reversal 5 | -| GARD:15703 | 46,xy sex reversal 6 | -| GARD:15174 | 46,xy sex reversal 7 | -| GARD:18361 | 46,xy sex reversal 9 | -| GARD:5674 | 47,XYY syndrome | -| GARD:5676 | 48,XXXY syndrome | -| GARD:5677 | 48,XXYY syndrome | -| GARD:11985 | 48,XYYY syndrome | -| GARD:5679 | 49,XXXXY syndrome | -| GARD:10922 | 49,XXXYY syndrome | -| GARD:19679 | 49,XYYYY syndrome | -| GARD:21140 | 4H leukodystrophy | -| GARD:19306 | 4p16.3 microduplication syndrome | -| GARD:17181 | 4q21 microdeletion syndrome | -| GARD:22048 | 4q25 proximal deletion syndrome | -| GARD:20509 | 5-fluorouracil poisoning | -| GARD:5681 | 5-oxoprolinase deficiency | -| GARD:17505 | 5p13 microduplication syndrome | -| GARD:12166 | 5q14.3 microdeletion syndrome | -| GARD:20595 | 5q35 microduplication syndrome | -| GARD:16897 | 6-phosphogluconate dehydrogenase deficiency | -| GARD:5682 | 6-pyruvoyl-tetrahydropterin synthase deficiency | -| GARD:20691 | 6p22 microdeletion syndrome | -| GARD:18931 | 6q terminal deletion syndrome | -| GARD:20126 | 6q16 microdeletion syndrome | -| GARD:3764 | 6q25 microdeletion syndrome | -| GARD:21367 | 7p22.1 microduplication syndrome | -| GARD:12076 | 7q11.23 microduplication syndrome | -| GARD:20692 | 7q31 microdeletion syndrome | -| GARD:19309 | 8p inverted duplication/deletion syndrome | -| GARD:20693 | 8p11.2 deletion syndrome | -| GARD:10304 | 8p23.1 duplication syndrome | -| GARD:3769 | 8p23.1 microdeletion syndrome | -| GARD:12816 | 8q12 microduplication syndrome | -| GARD:17310 | 8q21.11 microdeletion syndrome | -| GARD:4722 | 8q22.1 microdeletion syndrome | -| GARD:12814 | 8q24.3 microdeletion syndrome | -| GARD:21437 | 9p13 microdeletion syndrome | -| GARD:22212 | 9q21.13 microdeletion syndrome | -| GARD:21705 | 9q31.1q31.3 microdeletion syndrome | -| GARD:22009 | 9q33.3q34.11 microdeletion syndrome | -| GARD:10560 | AA amyloidosis | -| GARD:19224 | AApoAI amyloidosis | -| GARD:20631 | AApoAII amyloidosis | -| GARD:21828 | AApoAIV amyloidosis | -| GARD:17493 | ABeta amyloidosis, Arctic type | -| GARD:16929 | ABeta amyloidosis, Dutch type | -| GARD:17490 | ABeta amyloidosis, Iowa type | -| GARD:17491 | ABeta amyloidosis, Italian type | -| GARD:21829 | ABeta2M amyloidosis | -| GARD:17492 | ABetaA21G amyloidosis | -| GARD:17489 | ABetaL34V amyloidosis | -| GARD:8344 | ABri amyloidosis | -| GARD:19699 | ACTH-dependent Cushing syndrome | -| GARD:19700 | ACTH-independent Cushing syndrome | -| GARD:21856 | ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor | -| GARD:16930 | ACys amyloidosis | -| GARD:12931 | ADNP syndrome | -| GARD:384 | ADULT syndrome | -| GARD:9169 | ADan amyloidosis | -| GARD:19226 | AFib amyloidosis | -| GARD:2339 | AGel amyloidosis | -| GARD:21847 | AH amyloidosis | -| GARD:13409 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | -| GARD:13781 | AICA-ribosiduria | -| GARD:19122 | AIDS wasting syndrome | -| GARD:12599 | AKT2-related familial partial lipodystrophy | -| GARD:5797 | AL amyloidosis | -| GARD:16638 | ALDH18A1-related De Barsy syndrome | -| GARD:21827 | ALECT2 amyloidosis | -| GARD:9838 | ALG1-CDG | -| GARD:12396 | ALG11-CDG | -| GARD:9833 | ALG12-CDG | -| GARD:12401 | ALG13-CDG | -| GARD:9836 | ALG2-CDG | -| GARD:9827 | ALG3-CDG | -| GARD:9829 | ALG6-CDG | -| GARD:9834 | ALG8-CDG | -| GARD:9839 | ALG9-CDG | -| GARD:21252 | ALK-negative anaplastic large cell lymphoma | -| GARD:21251 | ALK-positive anaplastic large cell lymphoma | -| GARD:21564 | ALK-positive large B-cell lymphoma | -| GARD:22400 | ALPI-related inflammatory bowel disease | -| GARD:19225 | ALys amyloidosis | -| GARD:16987 | ANE syndrome | -| GARD:17541 | ANK3-related intellectual disability-sleep disturbance syndrome | -| GARD:17197 | APC-related attenuated familial adenomatous polyposis | -| GARD:8509 | AREDYLD syndrome | -| GARD:21753 | ARX-related encephalopathy-brain malformation spectrum | -| GARD:20241 | ARX-related epileptic encephalopathy | -| GARD:17427 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | -| GARD:22077 | ATP13A2-related parkinsonism | -| GARD:16755 | ATTRV122I amyloidosis | -| GARD:16754 | ATTRV30M amyloidosis | -| GARD:15002 | AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY | -| GARD:21703 | AXIN2-related attenuated familial adenomatous polyposis | -| GARD:15029 | Aarskog syndrome, autosomal dominant | -| GARD:4775 | Aarskog-Scott syndrome | -| GARD:5642 | Aase-Smith syndrome | -| GARD:15127 | Abetalipoproteinemia | -| GARD:5 | Abetalipoproteinemia | -| GARD:3 | Ablepharon macrostomia syndrome | -| GARD:19644 | Abnormal number of coronary ostia | -| GARD:4586 | Abnormal origin of right or left pulmonary artery from the aorta | -| GARD:18717 | Abnormal origin of the pulmonary artery | -| GARD:360 | Abruzzo-Erickson syndrome | -| GARD:16593 | Absence deformity of leg-cataract syndrome | -| GARD:2336 | Absence of fingerprints-congenital milia syndrome | -| GARD:19655 | Absence of innominate vein | -| GARD:18712 | Absence of the pulmonary artery | -| GARD:20185 | Absence of uterine body | -| GARD:4633 | Absent radius-anogenital anomalies syndrome | -| GARD:16615 | Absent thumb-short stature-immunodeficiency syndrome | -| GARD:5210 | Absent tibia-polydactyly-arachnoid cyst syndrome | -| GARD:361 | Acalvaria | -| GARD:5485 | Acanthokeratolytic verrucous nevus | -| GARD:453 | Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome | -| GARD:363 | Acatalasemia | -| GARD:19628 | Accessory mitral valve tissue | -| GARD:454 | Accessory pancreas | -| GARD:19264 | Accessory tricuspid valve tissue | -| GARD:9499 | Aceruloplasminemia | -| GARD:16906 | Acetazolamide-responsive myotonia | -| GARD:455 | Achalasia, familial esophageal | -| GARD:456 | Achalasia-microcephaly syndrome | -| GARD:21196 | Acheiria | -| GARD:376 | Acheiropodia | -| GARD:2882 | Achondrogenesis | -| GARD:459 | Achondrogenesis type 1A | -| GARD:460 | Achondrogenesis type 1B | -| GARD:8713 | Achondrogenesis type 2 | -| GARD:8173 | Achondroplasia | -| GARD:15015 | Achromatopsia | -| GARD:9649 | Achromatopsia 2 | -| GARD:9650 | Achromatopsia 3 | -| GARD:15723 | Achromatopsia 4 | -| GARD:16129 | Achromatopsia 7 | -| GARD:22457 | Acid sphingomyelinase deficiency | -| GARD:21777 | Acinar cell carcinoma of pancreas | -| GARD:18827 | Acitretin/etretinate embryopathy | -| GARD:17788 | Acquired Creutzfeldt-Jakob disease | -| GARD:20418 | Acquired amyloid peripheral neuropathy | -| GARD:19114 | Acquired aneurysmal subarachnoid hemorrhage | -| GARD:8605 | Acquired angioedema | -| GARD:19748 | Acquired angioedema type 1 | -| GARD:19747 | Acquired angioedema type 2 | -| GARD:22196 | Acquired angioedema with C1Inh deficiency | -| GARD:20656 | Acquired ataxia | -| GARD:19291 | Acquired central diabetes insipidus | -| GARD:19805 | Acquired chronic primary adrenal insufficiency | -| GARD:20586 | Acquired cutis laxa | -| GARD:21722 | Acquired cystic disease-associated renal cell carcinoma | -| GARD:20575 | Acquired dermis elastic tissue disorder | -| GARD:20576 | Acquired dermis elastic tissue disorder with decreased elastic tissue | -| GARD:20577 | Acquired dermis elastic tissue disorder with increased elastic tissue | -| GARD:22408 | Acquired factor V deficiency | -| GARD:22409 | Acquired factor VII deficiency | -| GARD:22410 | Acquired factor X deficiency | -| GARD:22411 | Acquired factor XI deficiency | -| GARD:22412 | Acquired factor XIII deficiency | -| GARD:12603 | Acquired generalized lipodystrophy | -| GARD:20027 | Acquired hemophagocytic lymphohistiocytosis associated with malignant disease | -| GARD:6405 | Acquired hemophilia A | -| GARD:22407 | Acquired hemophilia B | -| GARD:22328 | Acquired human prion disease | -| GARD:2864 | Acquired hypertrichosis lanuginosa | -| GARD:476 | Acquired ichthyosis | -| GARD:8249 | Acquired idiopathic sideroblastic anemia | -| GARD:21359 | Acquired immunodeficiency | -| GARD:18826 | Acquired kinky hair syndrome | -| GARD:12602 | Acquired lipodystrophy | -| GARD:21930 | Acquired methemoglobinemia | -| GARD:19154 | Acquired monoclonal Ig light chain-associated Fanconi syndrome | -| GARD:19479 | Acquired motor neuron disease | -| GARD:19474 | Acquired neuromuscular junction disease | -| GARD:20167 | Acquired neutropenia | -| GARD:10509 | Acquired partial lipodystrophy | -| GARD:20543 | Acquired peripheral movement disorder | -| GARD:20243 | Acquired peripheral neuropathy | -| GARD:19278 | Acquired pituitary hormone deficiency | -| GARD:21386 | Acquired porencephaly | -| GARD:19293 | Acquired premature ovarian failure | -| GARD:475 | Acquired prothrombin deficiency | -| GARD:20581 | Acquired pseudoxanthoma elasticum | -| GARD:18838 | Acquired purpura fulminans | -| GARD:17879 | Acquired schizencephaly | -| GARD:20636 | Acquired secondary polycythemia | -| GARD:20412 | Acquired sensory ganglionopathy | -| GARD:20359 | Acquired skeletal muscle disease | -| GARD:5573 | Acquired von Willebrand syndrome | -| GARD:12863 | Acral peeling skin syndrome | -| GARD:19140 | Acral persistent papular mucinosis | -| GARD:21108 | Acral self-healing collodion baby | -| GARD:480 | Acro-renal-mandibular syndrome | -| GARD:16551 | Acro-renal-ocular syndrome | -| GARD:5721 | Acrocallosal syndrome | -| GARD:10605 | Acrocapitofemoral dysplasia | -| GARD:1167 | Acrocardiofacial syndrome | -| GARD:2096 | Acrocephalopolydactyly | -| GARD:3075 | Acrocraniofacial dysostosis | -| GARD:20052 | Acrodermatitis continua of Hallopeau | -| GARD:5723 | Acrodermatitis enteropathica | -| GARD:5724 | Acrodysostosis | -| GARD:15030 | Acrodysostosis 1 with or without hormone resistance | -| GARD:15823 | Acrodysostosis 2 with or without hormone resistance | -| GARD:17300 | Acrodysostosis with multiple hormone resistance | -| GARD:491 | Acrodysplasia scoliosis | -| GARD:21574 | Acrofacial dysostosis | -| GARD:494 | Acrofacial dysostosis, Catania type | -| GARD:18859 | Acrofacial dysostosis, Kennedy-Teebi type | -| GARD:499 | Acrofacial dysostosis, Palagonia type | -| GARD:496 | Acrofacial dysostosis, Rodríguez type | -| GARD:497 | Acrofacial dysostosis, Weyers type | -| GARD:16117 | Acrofacial dysostosis, cincinnati type | -| GARD:484 | Acrofrontofacionasal dysostosis | -| GARD:6543 | Acrogeria | -| GARD:18987 | Acrokeratoderma | -| GARD:125 | Acrokeratoelastoidosis of Costa | -| GARD:16707 | Acrokeratosis verruciformis of Hopf | -| GARD:5725 | Acromegaly | -| GARD:4500 | Acromelanosis | -| GARD:19194 | Acromelic dysplasia | -| GARD:5539 | Acromelic frontonasal dysplasia | -| GARD:6 | Acromesomelic dysplasia | -| GARD:1300 | Acromesomelic dysplasia, Grebe type | -| GARD:506 | Acromesomelic dysplasia, Hunter-Thompson type | -| GARD:507 | Acromesomelic dysplasia, Maroteaux type | -| GARD:7 | Acromicric dysplasia | -| GARD:15031 | Acroosteolysis | -| GARD:4276 | Acroosteolysis-keloid-like lesions-premature aging syndrome | -| GARD:4559 | Acrootoocular syndrome | -| GARD:8485 | Acropectoral syndrome | -| GARD:512 | Acropectorovertebral dysplasia | -| GARD:514 | Acrorenal syndrome | -| GARD:15130 | Acrorenal syndrome, autosomal recessive | -| GARD:16034 | Acth-independent macronodular adrenal hyperplasia 2 | -| GARD:12673 | Actinic lichen planus | -| GARD:17510 | Actinic prurigo | -| GARD:5728 | Actinomycosis | -| GARD:17000 | Action myoclonus-renal failure syndrome | -| GARD:11983 | Activated PI3K-delta syndrome | -| GARD:9299 | Acute ackee fruit intoxication | -| GARD:19257 | Acute adrenal insufficiency | -| GARD:20386 | Acute and subacute inflammatory demyelinating polyneuropathy | -| GARD:21121 | Acute annular outer retinopathy | -| GARD:19071 | Acute basophilic leukemia | -| GARD:22197 | Acute bilirubin encephalopathy | -| GARD:8639 | Acute disseminated encephalomyelitis | -| GARD:22378 | Acute disseminated encephalomyelitis with anti-MOG antibodies | -| GARD:22379 | Acute disseminated encephalomyelitis without anti-MOG antibodies | -| GARD:21552 | Acute encephalopathy with biphasic seizures and late reduced diffusion | -| GARD:21553 | Acute encephalopathy with inflammation-mediated status epilepticus | -| GARD:21059 | Acute endophthalmitis | -| GARD:9620 | Acute erythroid leukemia | -| GARD:9578 | Acute fatty liver of pregnancy | -| GARD:13142 | Acute flaccid myelitis | -| GARD:21164 | Acute generalized exanthematous pustulosis | -| GARD:6544 | Acute graft versus host disease | -| GARD:19255 | Acute hepatic porphyria | -| GARD:10593 | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | -| GARD:17833 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | -| GARD:13114 | Acute infantile liver failure-multisystemic involvement syndrome | -| GARD:16873 | Acute inflammatory demyelinating polyradiculoneuropathy | -| GARD:5732 | Acute intermittent porphyria | -| GARD:12835 | Acute interstitial pneumonia | -| GARD:8638 | Acute leukemia of ambiguous lineage | -| GARD:19112 | Acute liver failure | -| GARD:20146 | Acute lung injury | -| GARD:522 | Acute lymphoblastic leukemia | -| GARD:22000 | Acute macular neuroretinopathy | -| GARD:22276 | Acute mast cell leukemia | -| GARD:524 | Acute megakaryoblastic leukemia | -| GARD:19697 | Acute megakaryoblastic leukemia in Down syndrome | -| GARD:21490 | Acute megakaryoblastic leukemia without Down syndrome | -| GARD:525 | Acute monoblastic/monocytic leukemia | -| GARD:19601 | Acute motor and sensory axonal neuropathy | -| GARD:19602 | Acute motor axonal neuropathy | -| GARD:527 | Acute myeloblastic leukemia with maturation | -| GARD:526 | Acute myeloblastic leukemia without maturation | -| GARD:12761 | Acute myeloid leukaemia with myelodysplasia-related features | -| GARD:12757 | Acute myeloid leukemia | -| GARD:19835 | Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent | -| GARD:20057 | Acute myeloid leukemia and myelodysplastic syndromes related to radiation | -| GARD:19836 | Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor | -| GARD:19587 | Acute myeloid leukemia with 11q23 abnormalities | -| GARD:17451 | Acute myeloid leukemia with CEBPA somatic mutations | -| GARD:21713 | Acute myeloid leukemia with NPM1 somatic mutations | -| GARD:536 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | -| GARD:12759 | Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) | -| GARD:19588 | Acute myeloid leukemia with minimal differentiation | -| GARD:12758 | Acute myeloid leukemia with recurrent genetic anomaly | -| GARD:21710 | Acute myeloid leukemia with t(6;9)(p23;q34) | -| GARD:21588 | Acute myeloid leukemia with t(8;16)(p11;p13) translocation | -| GARD:19837 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | -| GARD:21711 | Acute myeloid leukemia with t(9;11)(p22;q23) | -| GARD:22340 | Acute myeloid leukemia with t(9;22)(q34.1;q11.2) | -| GARD:529 | Acute myelomonocytic leukemia | -| GARD:17257 | Acute necrotizing encephalopathy of childhood | -| GARD:20659 | Acute neonatal citrullinemia type I | -| GARD:18817 | Acute opioid poisoning | -| GARD:20617 | Acute pandysautonomia | -| GARD:11907 | Acute panmyelosis with myelofibrosis | -| GARD:19113 | Acute peripheral arterial occlusion | -| GARD:18830 | Acute poisoning by drugs with membrane-stabilizing effect | -| GARD:538 | Acute promyelocytic leukemia | -| GARD:20616 | Acute pure sensory neuropathy | -| GARD:21896 | Acute radiation syndrome | -| GARD:18035 | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate | -| GARD:12927 | Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma | -| GARD:20618 | Acute sensory ataxic neuropathy | -| GARD:19913 | Acute transverse myelitis | -| GARD:22375 | Acute transverse myelitis with anti-MOG antibodies | -| GARD:18829 | Acute tricyclic antidepressant poisoning | -| GARD:16863 | Acute undifferentiated leukemia | -| GARD:8640 | Acute zonal occult outer retinopathy | -| GARD:12986 | Acyl-CoA dehydrogenase 9 deficiency | -| GARD:21318 | Acyl-CoA dehydrogenase deficiency | -| GARD:16660 | Adamantinoma | -| GARD:5739 | Adams-Oliver syndrome | -| GARD:15775 | Adams-oliver syndrome 2 | -| GARD:15842 | Adams-oliver syndrome 3 | -| GARD:15941 | Adams-oliver syndrome 4 | -| GARD:16049 | Adams-oliver syndrome 5 | -| GARD:16142 | Adams-oliver syndrome 6 | -| GARD:5740 | Addison disease | -| GARD:10277 | Adducted thumbs-arthrogryposis syndrome, Christian type | -| GARD:546 | Adenine phosphoribosyltransferase deficiency | -| GARD:20466 | Adenocarcinoma of ovary | -| GARD:21773 | Adenocarcinoma of the anal canal | -| GARD:20488 | Adenocarcinoma of the cervix uteri | -| GARD:16927 | Adenocarcinoma of the esophagus | -| GARD:21791 | Adenocarcinoma of the gallbladder and extrahepatic biliary tract | -| GARD:21787 | Adenocarcinoma of the liver and intrahepatic biliary tract | -| GARD:21638 | Adenocarcinoma of the penis | -| GARD:19851 | Adenocarcinoma of the small intestine | -| GARD:19284 | Adenohypophysitis | -| GARD:20499 | Adenoid basal carcinoma of the cervix uteri | -| GARD:20498 | Adenoid cystic carcinoma of the cervix uteri | -| GARD:4204 | Adenoma of pancreas | -| GARD:20492 | Adenosarcoma of the cervix uteri | -| GARD:20473 | Adenosarcoma of the corpus uteri | -| GARD:547 | Adenosine monophosphate deaminase deficiency | -| GARD:19153 | Adenovirus infection in immunocompromised patients | -| GARD:550 | Adenylosuccinate lyase deficiency | -| GARD:17878 | Adenylosuccinate synthetase-like 1-related distal myopathy | -| GARD:5750 | Adiposis dolorosa | -| GARD:19438 | Adolescent-onset epilepsy syndrome | -| GARD:22385 | Adrenal hypoplasia congenita | -| GARD:15131 | Adrenal hypoplasia, cytomegalic type | -| GARD:19765 | Adrenal/paraganglial tumor | -| GARD:558 | Adrenocortical carcinoma | -| GARD:20621 | Adrenocortical carcinoma with pure aldosterone hypersecretion | -| GARD:15132 | Adrenocortical carcinoma, hereditary | -| GARD:15033 | Adrenocortical hypofunction, chronic primary congenital | -| GARD:15133 | Adrenocortical unresponsiveness to acth with postreceptor defect | -| GARD:20226 | Adrenogenital syndrome | -| GARD:10614 | Adrenomyeloneuropathy | -| GARD:562 | Adrenomyodystrophy | -| GARD:20345 | Adult Krabbe disease | -| GARD:19076 | Adult T-cell leukemia/lymphoma | -| GARD:18902 | Adult acute respiratory distress syndrome | -| GARD:18777 | Adult familial nephronophthisis-spastic quadriparesia syndrome | -| GARD:6608 | Adult hepatocellular carcinoma | -| GARD:17193 | Adult hypophosphatasia | -| GARD:16605 | Adult idiopathic neutropenia | -| GARD:20152 | Adult intestinal botulism | -| GARD:10973 | Adult neuronal ceroid lipofuscinosis | -| GARD:108 | Adult polyglucosan body disease | -| GARD:22364 | Adult-onset Steinert myotonic dystrophy | -| GARD:436 | Adult-onset Still disease | -| GARD:10587 | Adult-onset autosomal dominant leukodystrophy | -| GARD:17314 | Adult-onset autosomal recessive cerebellar ataxia | -| GARD:17235 | Adult-onset autosomal recessive sideroblastic anemia | -| GARD:17694 | Adult-onset cervical dystonia, DYT23 type | -| GARD:17503 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | -| GARD:20660 | Adult-onset citrullinemia type I | -| GARD:21492 | Adult-onset distal myopathy due to VCP mutation | -| GARD:12568 | Adult-onset dystonia-parkinsonism | -| GARD:10909 | Adult-onset foveomacular vitelliform dystrophy | -| GARD:11992 | Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies | -| GARD:17501 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | -| GARD:21623 | Adult-onset myasthenia gravis | -| GARD:12824 | Adult-onset nemaline myopathy | -| GARD:15368 | Advanced sleep phase syndrome, familial, 1 | -| GARD:15922 | Advanced sleep phase syndrome, familial, 2 | -| GARD:16165 | Advanced sleep phase syndrome, familial, 3 | -| GARD:8495 | African iron overload | -| GARD:19781 | African tick typhus | -| GARD:7826 | African trypanosomiasis | -| GARD:20320 | Agammaglobulinemia | -| GARD:15672 | Agammaglobulinemia 2, autosomal recessive | -| GARD:15673 | Agammaglobulinemia 3, autosomal recessive | -| GARD:15674 | Agammaglobulinemia 4, autosomal recessive | -| GARD:15675 | Agammaglobulinemia 5, autosomal dominant | -| GARD:15579 | Agammaglobulinemia 6, autosomal recessive | -| GARD:15918 | Agammaglobulinemia 7, autosomal recessive | -| GARD:16171 | Agammaglobulinemia 8a, autosomal dominant | -| GARD:10011 | Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome | -| GARD:19657 | Agenesis of the superior vena cava | -| GARD:21576 | Aggrecan-related bone disorder | -| GARD:21245 | Aggressive B-cell non-Hodgkin lymphoma | -| GARD:10493 | Aggressive NK-cell leukemia | -| GARD:20163 | Aggressive primary cutaneous B-cell lymphoma | -| GARD:20162 | Aggressive primary cutaneous T-cell lymphoma | -| GARD:19597 | Aggressive systemic mastocytosis | -| GARD:9126 | Agnathia-holoprosencephaly-situs inversus syndrome | -| GARD:5764 | Aicardi syndrome | -| GARD:575 | Aicardi-Goutières syndrome | -| GARD:15167 | Aicardi-goutieres syndrome 1 | -| GARD:15472 | Aicardi-goutieres syndrome 2 | -| GARD:15479 | Aicardi-goutieres syndrome 3 | -| GARD:15480 | Aicardi-goutieres syndrome 4 | -| GARD:10151 | Aicardi-goutieres syndrome 5 | -| GARD:15894 | Aicardi-goutieres syndrome 6 | -| GARD:16021 | Aicardi-goutieres syndrome 7 | -| GARD:12404 | Alacrima, achalasia, and mental retardation syndrome | -| GARD:18165 | Alacrima, congenital, autosomal dominant | -| GARD:18166 | Alacrima, congenital, autosomal recessive | -| GARD:12315 | Alacrimia-choreoathetosis-liver dysfunction syndrome | -| GARD:804 | Alagille syndrome | -| GARD:17250 | Alagille syndrome due to 20p12 microdeletion | -| GARD:17251 | Alagille syndrome due to a JAG1 point mutation | -| GARD:17252 | Alagille syndrome due to a NOTCH2 point mutation | -| GARD:588 | Alar cartilages hypoplasia-coloboma-telecanthus syndrome | -| GARD:17468 | Alazami syndrome | -| GARD:383 | Albers-Schönberg osteopetrosis | -| GARD:589 | Albinism-deafness syndrome | -| GARD:5774 | Alexander disease | -| GARD:17572 | Alexander disease type I | -| GARD:17573 | Alexander disease type II | -| GARD:17936 | Alkaline ceramidase 3 deficiency | -| GARD:5775 | Alkaptonuria | -| GARD:5617 | Allan-Herndon-Dudley syndrome | -| GARD:602 | Allergic bronchopulmonary aspergillosis | -| GARD:15034 | Allergic bronchopulmonary aspergillosis, familial | -| GARD:16831 | Alobar holoprosencephaly | -| GARD:18995 | Alopecia | -| GARD:18713 | Alopecia antibody deficiency | -| GARD:15035 | Alopecia areata 1 | -| GARD:15496 | Alopecia areata 2 | -| GARD:613 | Alopecia totalis | -| GARD:614 | Alopecia universalis | -| GARD:15135 | Alopecia universalis congenita | -| GARD:1470 | Alopecia, congenital | -| GARD:605 | Alopecia-contractures-dwarfism-intellectual disability syndrome | -| GARD:607 | Alopecia-epilepsy-pyorrhea-intellectual disability syndrome | -| GARD:612 | Alopecia-intellectual disability syndrome | -| GARD:4291 | Alopecia-intellectual disability syndrome 2 | -| GARD:15730 | Alopecia-intellectual disability syndrome 3 | -| GARD:16386 | Alopecia-intellectual disability syndrome 4 | -| GARD:16553 | Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome | -| GARD:5783 | Alpers-Huttenlocher syndrome | -| GARD:5034 | Alpha delta granule deficiency | -| GARD:19469 | Alpha granule disease | -| GARD:5784 | Alpha-1-antitrypsin deficiency | -| GARD:17651 | Alpha-B crystallin-related late-onset myopathy | -| GARD:16621 | Alpha-N-acetylgalactosaminidase deficiency | -| GARD:116 | Alpha-N-acetylgalactosaminidase deficiency type 1 | -| GARD:9161 | Alpha-N-acetylgalactosaminidase deficiency type 2 | -| GARD:3903 | Alpha-N-acetylgalactosaminidase deficiency type 3 | -| GARD:19600 | Alpha-crystallinopathy | -| GARD:12541 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | -| GARD:19742 | Alpha-heavy chain disease | -| GARD:6968 | Alpha-mannosidosis | -| GARD:17408 | Alpha-mannosidosis, adult form | -| GARD:17407 | Alpha-mannosidosis, infantile form | -| GARD:15787 | Alpha-methylacyl-coa racemase deficiency | -| GARD:438 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | -| GARD:621 | Alpha-thalassemia | -| GARD:21022 | Alpha-thalassemia and related disorders | -| GARD:5864 | Alpha-thalassemia-X-linked intellectual disability syndrome | -| GARD:16862 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | -| GARD:17167 | Alpha-thalassemia-myelodysplastic syndrome | -| GARD:5785 | Alport syndrome | -| GARD:16761 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | -| GARD:5787 | Alström syndrome | -| GARD:20446 | Alternating hemiplegia | -| GARD:11 | Alternating hemiplegia of childhood | -| GARD:15036 | Alternating hemiplegia of childhood 1 | -| GARD:15845 | Alternating hemiplegia of childhood 2 | -| GARD:207 | Alveolar echinococcosis | -| GARD:4701 | Alveolar rhabdomyosarcoma | -| GARD:5654 | Alveolar soft tissue sarcoma | -| GARD:18544 | Alzahrani-kuwahara syndrome | -| GARD:16514 | Alzheimer disease 10 | -| GARD:16515 | Alzheimer disease 11 | -| GARD:16516 | Alzheimer disease 12 | -| GARD:16517 | Alzheimer disease 13 | -| GARD:16518 | Alzheimer disease 14 | -| GARD:7190 | Alzheimer disease 15 | -| GARD:12799 | Alzheimer disease 2 | -| GARD:16513 | Alzheimer disease 3 | -| GARD:16511 | Alzheimer disease 4 | -| GARD:16507 | Alzheimer disease 5 | -| GARD:16509 | Alzheimer disease 6 | -| GARD:16510 | Alzheimer disease 7 | -| GARD:16512 | Alzheimer disease 8 | -| GARD:16508 | Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology | -| GARD:9465 | Alzheimer disease, familial, 1 | -| GARD:637 | Amaurosis-hypertrichosis syndrome | -| GARD:21179 | Amelia | -| GARD:21191 | Amelia of lower limb | -| GARD:21190 | Amelia of upper limb | -| GARD:647 | Amelo-onycho-hypohidrotic syndrome | -| GARD:11855 | Ameloblastic carcinoma | -| GARD:5747 | Ameloblastoma | -| GARD:3128 | Amelocerebrohypohidrotic syndrome | -| GARD:5791 | Amelogenesis imperfecta | -| GARD:9495 | Amelogenesis imperfecta, hypomaturation type, iia1 | -| GARD:15563 | Amelogenesis imperfecta, hypomaturation type, iia2 | -| GARD:15630 | Amelogenesis imperfecta, hypomaturation type, iia3 | -| GARD:15847 | Amelogenesis imperfecta, hypomaturation type, iia4 | -| GARD:16028 | Amelogenesis imperfecta, hypomaturation type, iia5 | -| GARD:16211 | Amelogenesis imperfecta, hypomaturation type, iia6 | -| GARD:9944 | Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 | -| GARD:15038 | Amelogenesis imperfecta, type ia | -| GARD:15037 | Amelogenesis imperfecta, type ib | -| GARD:15136 | Amelogenesis imperfecta, type ic | -| GARD:9943 | Amelogenesis imperfecta, type ie | -| GARD:16076 | Amelogenesis imperfecta, type if | -| GARD:16071 | Amelogenesis imperfecta, type ih | -| GARD:18258 | Amelogenesis imperfecta, type iiib | -| GARD:16220 | Amelogenesis imperfecta, type ij | -| GARD:18795 | American trypanosomiasis | -| GARD:20552 | Amino acid or protein metabolism disease with epilepsy | -| GARD:21304 | Aminoacylase deficiency | -| GARD:2294 | Aminopterin/methotrexate embryofetopathy | -| GARD:8606 | Amish lethal microcephaly | -| GARD:8334 | Amish nemaline myopathy | -| GARD:22448 | Amniotic fluid embolism | -| GARD:18675 | Amoebiasis due to Entamoeba histolytica | -| GARD:12650 | Amoebiasis due to free-living amoebae | -| GARD:9285 | Amoebic keratitis | -| GARD:18676 | Amyloidosis | -| GARD:17466 | Amyloidosis cutis dyschromia | -| GARD:18637 | Amyloidosis, primary localized cutaneous, 1 | -| GARD:18638 | Amyloidosis, primary localized cutaneous, 2 | -| GARD:9907 | Amyopathic dermatomyositis | -| GARD:5786 | Amyotrophic lateral sclerosis | -| GARD:15540 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | -| GARD:10496 | Amyotrophic lateral sclerosis 11 | -| GARD:15663 | Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia | -| GARD:15269 | Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia | -| GARD:15794 | Amyotrophic lateral sclerosis 16, juvenile | -| GARD:15841 | Amyotrophic lateral sclerosis 18 | -| GARD:15980 | Amyotrophic lateral sclerosis 19 | -| GARD:15137 | Amyotrophic lateral sclerosis 2, juvenile | -| GARD:15964 | Amyotrophic lateral sclerosis 20 | -| GARD:18619 | Amyotrophic lateral sclerosis 21 | -| GARD:16068 | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | -| GARD:16262 | Amyotrophic lateral sclerosis 23 | -| GARD:16425 | Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia | -| GARD:10501 | Amyotrophic lateral sclerosis 3 | -| GARD:15343 | Amyotrophic lateral sclerosis 5, juvenile | -| GARD:9874 | Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia | -| GARD:10500 | Amyotrophic lateral sclerosis 7 | -| GARD:10499 | Amyotrophic lateral sclerosis 8 | -| GARD:10498 | Amyotrophic lateral sclerosis 9 | -| GARD:10502 | Amyotrophic lateral sclerosis type 4 | -| GARD:15138 | Amyotrophic lateral sclerosis with polyglucosan bodies | -| GARD:16265 | Amyotrophic lateral sclerosis, susceptibility to, 24 | -| GARD:3955 | Amyotrophy, hereditary neuralgic | -| GARD:20568 | Anal fistula | -| GARD:5860 | Anaplastic astrocytoma | -| GARD:10634 | Anaplastic ependymoma | -| GARD:10639 | Anaplastic ganglioglioma | -| GARD:3112 | Anaplastic large cell lymphoma | -| GARD:10637 | Anaplastic oligoastrocytoma | -| GARD:9472 | Anaplastic oligodendroglioma | -| GARD:664 | Anaplastic thyroid carcinoma | -| GARD:20717 | Anaplastic/large cell medulloblastoma | -| GARD:9657 | Anauxetic dysplasia | -| GARD:9453 | Andersen-Tawil syndrome | -| GARD:5803 | Androgen insensitivity syndrome | -| GARD:15994 | Anemia, congenital dyserythropoietic, type ib | -| GARD:18381 | Anemia, sideroblastic, 2, pyridoxine-refractory | -| GARD:18380 | Anemia, sideroblastic, 4 | -| GARD:670 | Aneurysm of sinus of Valsalva | -| GARD:18320 | Aneurysm, intracranial berry, 1 | -| GARD:18328 | Aneurysm, intracranial berry, 10 | -| GARD:18329 | Aneurysm, intracranial berry, 11 | -| GARD:18330 | Aneurysm, intracranial berry, 12 | -| GARD:10033 | Aneurysm, intracranial berry, 2 | -| GARD:18322 | Aneurysm, intracranial berry, 3 | -| GARD:18323 | Aneurysm, intracranial berry, 4 | -| GARD:18321 | Aneurysm, intracranial berry, 5 | -| GARD:18324 | Aneurysm, intracranial berry, 6 | -| GARD:18325 | Aneurysm, intracranial berry, 7 | -| GARD:18326 | Aneurysm, intracranial berry, 8 | -| GARD:18327 | Aneurysm, intracranial berry, 9 | -| GARD:10997 | Aneurysm-osteoarthritis syndrome | -| GARD:21982 | Aneurysmal bone cyst | -| GARD:671 | Angel-shaped phalango-epiphyseal dysplasia | -| GARD:5810 | Angelman syndrome | -| GARD:21732 | Angelman syndrome due to a point mutation | -| GARD:21733 | Angelman syndrome due to imprinting defect in 15q11-q13 | -| GARD:19577 | Angelman syndrome due to maternal 15q11q13 deletion | -| GARD:19578 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | -| GARD:20714 | Angiocentric glioma | -| GARD:18259 | Angioedema induced by ace inhibitors, susceptibility to | -| GARD:11973 | Angioimmunoblastic T-cell lymphoma | -| GARD:15021 | Angioma serpiginosum | -| GARD:10189 | Angioma serpiginosum, autosomal dominant | -| GARD:10188 | Angioma serpiginosum, x-linked | -| GARD:22303 | Angiomatoid fibrous histiocytoma | -| GARD:3122 | Angioosteohypertrophic syndrome | -| GARD:18927 | Angioosteohypotrophic syndrome | -| GARD:20900 | Angiosarcoma | -| GARD:683 | Angiostrongyliasis | -| GARD:21590 | Angora hair nevus | -| GARD:16681 | Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome | -| GARD:16200 | Aniridia 2 | -| GARD:16201 | Aniridia 3 | -| GARD:685 | Aniridia-absent patella syndrome | -| GARD:13 | Aniridia-cerebellar ataxia-intellectual disability syndrome | -| GARD:5530 | Aniridia-intellectual disability syndrome | -| GARD:689 | Aniridia-ptosis-intellectual disability-familial obesity syndrome | -| GARD:690 | Aniridia-renal agenesis-psychomotor retardation syndrome | -| GARD:693 | Anisakiasis | -| GARD:696 | Ankyloblepharon filiforme adnatum-cleft palate syndrome | -| GARD:697 | Ankyloblepharon filiforme adnatum-imperforate anus syndrome | -| GARD:6571 | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | -| GARD:842 | Ankylosing vertebral hyperostosis with tylosis | -| GARD:9742 | Ankylostomiasis | -| GARD:12676 | Annular atrophic lichen planus | -| GARD:17304 | Annular epidermolytic ichthyosis | -| GARD:12674 | Annular lichen planus | -| GARD:705 | Annular pancreas | -| GARD:12536 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | -| GARD:5818 | Anodontia | -| GARD:22226 | Anomalous aortic origin of coronary artery | -| GARD:22224 | Anomalous aortic origin of the left coronary artery | -| GARD:22225 | Anomalous aortic origin of the right coronary artery | -| GARD:22227 | Anomalous origin of coronary artery from the pulmonary artery | -| GARD:20200 | Anomaly of puberty or/and menstrual cycle | -| GARD:20341 | Anomaly of puberty or/and menstrual cycle of genetic origin | -| GARD:22230 | Anomaly of the coronary ostia | -| GARD:19784 | Anomaly of the mitral subvalvular apparatus | -| GARD:19265 | Anomaly of the tricuspid subvalvular apparatus | -| GARD:16837 | Anonychia congenita totalis | -| GARD:16682 | Anonychia with flexural pigmentation | -| GARD:5123 | Anonychia-microcephaly syndrome | -| GARD:710 | Anonychia-onychodystrophy syndrome | -| GARD:719 | Anophthalmia plus syndrome | -| GARD:717 | Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome | -| GARD:1443 | Anophthalmia/microphthalmia-esophageal atresia syndrome | -| GARD:19351 | Anorectal malformation | -| GARD:16835 | Anotia | -| GARD:4570 | Antecubital pterygium syndrome | -| GARD:20143 | Antenatal multiminicore disease with arthrogryposis multiplex congenita | -| GARD:18843 | Anterior cutaneous nerve entrapment syndrome | -| GARD:17997 | Anterior maxillary protrusion-strabismus-intellectual disability syndrome | -| GARD:22084 | Anterior segment developmental abnormality with extraocular manifestations | -| GARD:10025 | Anterior segment developmental anomaly | -| GARD:22167 | Anterior segment developmental anomaly of genetic origin | -| GARD:16484 | Anterior segment developmental anomaly without extraocular manifestations | -| GARD:2978 | Anterior segment dysgenesis 3 | -| GARD:3026 | Anterior segment dysgenesis 4 | -| GARD:21805 | Anterior urethral valve | -| GARD:10941 | Anterior uveitis | -| GARD:730 | Anti-HLA hyperimmunization | -| GARD:2551 | Anti-glomerular basement membrane disease | -| GARD:13011 | Anti-neutrophil cytoplasmic antibody-associated vasculitis | -| GARD:21892 | Anti-p200 pemphigoid | -| GARD:5824 | Antiphospholipid syndrome | -| GARD:735 | Antisynthetase syndrome | -| GARD:5826 | Antley-Bixler syndrome | -| GARD:16665 | Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis | -| GARD:22389 | Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis | -| GARD:5828 | Aorta coarctation | -| GARD:16491 | Aortic aneurysm, familial abdominal, 1 | -| GARD:16492 | Aortic aneurysm, familial abdominal, 2 | -| GARD:16493 | Aortic aneurysm, familial abdominal, 3 | -| GARD:16494 | Aortic aneurysm, familial abdominal, 4 | -| GARD:15408 | Aortic aneurysm, familial thoracic 1 | -| GARD:16207 | Aortic aneurysm, familial thoracic 10 | -| GARD:15409 | Aortic aneurysm, familial thoracic 2 | -| GARD:9876 | Aortic aneurysm, familial thoracic 4 | -| GARD:15527 | Aortic aneurysm, familial thoracic 6 | -| GARD:15706 | Aortic aneurysm, familial thoracic 7 | -| GARD:15966 | Aortic aneurysm, familial thoracic 8 | -| GARD:16067 | Aortic aneurysm, familial thoracic 9 | -| GARD:739 | Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome | -| GARD:741 | Aortic arch defects | -| GARD:740 | Aortic arch interruption | -| GARD:19552 | Aortic malformation | -| GARD:18470 | Aortic valve disease 1 | -| GARD:18471 | Aortic valve disease 2 | -| GARD:19633 | Aorto-left ventricular tunnel | -| GARD:19632 | Aorto-right ventricular tunnel | -| GARD:18798 | Aorto-ventricular tunnel | -| GARD:5833 | Apert syndrome | -| GARD:3051 | Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome | -| GARD:748 | Aphalangy-syndactyly-microcephaly syndrome | -| GARD:21443 | Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome | -| GARD:5835 | Aplasia cutis congenita | -| GARD:753 | Aplasia cutis congenita-intestinal lymphangiectasia syndrome | -| GARD:756 | Aplasia cutis-myopia syndrome | -| GARD:16759 | Aplasia of lacrimal and salivary glands | -| GARD:20234 | Aplastic anemia | -| GARD:18026 | Aplastic anemia-intellectual disability-dwarfism syndrome | -| GARD:19722 | Apnea of prematurity | -| GARD:21197 | Apodia | -| GARD:2872 | Apolipoprotein A-I deficiency | -| GARD:18076 | Apolipoprotein c-iii deficiency | -| GARD:433 | Apparent mineralocorticoid excess | -| GARD:22281 | Aprosencephaly | -| GARD:4518 | Aprosencephaly cerebellar dysgenesis | -| GARD:22279 | Aprosencephaly/atelencephaly spectrum | -| GARD:12991 | Aquagenic palmoplantar keratoderma | -| GARD:381 | Arachnodactyly-abnormal ossification-intellectual disability syndrome | -| GARD:764 | Arachnodactyly-intellectual disability-dysmorphism syndrome | -| GARD:17 | Arachnoid cyst | -| GARD:5839 | Arachnoiditis | -| GARD:18690 | Arbovirus fever | -| GARD:19778 | Aregenerative anemia | -| GARD:21411 | Argentine hemorrhagic fever | -| GARD:5840 | Argininemia | -| GARD:5843 | Argininosuccinic aciduria | -| GARD:18856 | Argyria | -| GARD:9233 | Arnold-Chiari malformation type I | -| GARD:9232 | Arnold-Chiari malformation type II | -| GARD:365 | Aromatase deficiency | -| GARD:12494 | Aromatase excess syndrome | -| GARD:770 | Aromatic L-amino acid decarboxylase deficiency | -| GARD:8755 | Arrhinia-choanal atresia-microphthalmia syndrome | -| GARD:5847 | Arrhythmogenic right ventricular cardiomyopathy | -| GARD:16577 | Arterial dissection-lentiginosis syndrome | -| GARD:19270 | Arterial duct anomaly | -| GARD:21535 | Arterial thoracic outlet syndrome | -| GARD:774 | Arterial tortuosity syndrome | -| GARD:2084 | Arthrochalasia Ehlers-Danlos syndrome | -| GARD:777 | Arthrogryposis multiplex congenita | -| GARD:18566 | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | -| GARD:792 | Arthrogryposis multiplex congenita-whistling face syndrome | -| GARD:19870 | Arthrogryposis syndrome | -| GARD:15790 | Arthrogryposis, distal, type 1b | -| GARD:16421 | Arthrogryposis, distal, type 1c | -| GARD:9909 | Arthrogryposis, distal, type 2b1 | -| GARD:16351 | Arthrogryposis, distal, type 2b2 | -| GARD:15139 | Arthrogryposis, renal dysfunction, and cholestasis 1 | -| GARD:15658 | Arthrogryposis, renal dysfunction, and cholestasis 2 | -| GARD:16658 | Arthrogryposis-anterior horn cell disease syndrome | -| GARD:5029 | Arthrogryposis-ectodermal dysplasia syndrome | -| GARD:3053 | Arthrogryposis-hyperkeratosis syndrome, lethal form | -| GARD:784 | Arthrogryposis-like hand anomaly-sensorineural deafness syndrome | -| GARD:4047 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | -| GARD:794 | Arthrogryposis-renal dysfunction-cholestasis syndrome | -| GARD:16672 | Arthrogryposis-severe scoliosis syndrome | -| GARD:5852 | Asbestos intoxication | -| GARD:19557 | Ascending aorta anomaly | -| GARD:201 | Ascher syndrome | -| GARD:5853 | Asherman syndrome | -| GARD:5854 | Aspartylglucosaminuria | -| GARD:5856 | Aspergillosis | -| GARD:15752 | Aspergillosis, susceptibility to | -| GARD:19050 | Astley-Kendall dysplasia | -| GARD:10635 | Astroblastoma | -| GARD:12928 | Astrocytoma | -| GARD:20759 | Ataxia neuropathy spectrum | -| GARD:19486 | Ataxia with dementia | -| GARD:8595 | Ataxia with vitamin E deficiency | -| GARD:4644 | Ataxia-deafness-intellectual disability syndrome | -| GARD:944 | Ataxia-hypogonadism-choroidal dystrophy syndrome | -| GARD:17597 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | -| GARD:13112 | Ataxia-oculomotor apraxia 3 | -| GARD:9283 | Ataxia-oculomotor apraxia type 1 | -| GARD:13111 | Ataxia-oculomotor apraxia type 4 | -| GARD:3865 | Ataxia-pancytopenia syndrome | -| GARD:2287 | Ataxia-photosensitivity-short stature syndrome | -| GARD:16559 | Ataxia-tapetoretinal degeneration syndrome | -| GARD:5862 | Ataxia-telangiectasia | -| GARD:21597 | Ataxia-telangiectasia variant | -| GARD:15141 | Ataxia-telangiectasia with generalized skin pigmentation and early death | -| GARD:17209 | Ataxia-telangiectasia-like disorder | -| GARD:22280 | Atelencephaly | -| GARD:9287 | Atelosteogenesis type I | -| GARD:8329 | Atelosteogenesis type II | -| GARD:10608 | Atelosteogenesis type III | -| GARD:8333 | Athabaskan brainstem dysgenesis syndrome | -| GARD:2279 | Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome | -| GARD:16842 | Athyreosis | -| GARD:3537 | Atkin-Flaitz syndrome | -| GARD:20053 | Atopic keratoconjunctivitis | -| GARD:18274 | Atresia of external auditory canal and conductive deafness | -| GARD:140 | Atresia of small intestine | -| GARD:18678 | Atresia of urethra | -| GARD:19283 | Atrial appendage anomaly | -| GARD:15745 | Atrial fibrillation, familial, 10 | -| GARD:15747 | Atrial fibrillation, familial, 11 | -| GARD:15748 | Atrial fibrillation, familial, 12 | -| GARD:15954 | Atrial fibrillation, familial, 13 | -| GARD:15955 | Atrial fibrillation, familial, 14 | -| GARD:16010 | Atrial fibrillation, familial, 15 | -| GARD:16219 | Atrial fibrillation, familial, 18 | -| GARD:15446 | Atrial fibrillation, familial, 2 | -| GARD:15414 | Atrial fibrillation, familial, 3 | -| GARD:15516 | Atrial fibrillation, familial, 4 | -| GARD:15517 | Atrial fibrillation, familial, 5 | -| GARD:15544 | Atrial fibrillation, familial, 6 | -| GARD:15545 | Atrial fibrillation, familial, 7 | -| GARD:15609 | Atrial fibrillation, familial, 8 | -| GARD:15737 | Atrial fibrillation, familial, 9 | -| GARD:19651 | Atrial septal aneurysm | -| GARD:15755 | Atrial septal defect 3 | -| GARD:15512 | Atrial septal defect 4 | -| GARD:10697 | Atrial septal defect, coronary sinus type | -| GARD:10695 | Atrial septal defect, ostium primum type | -| GARD:5865 | Atrial septal defect, ostium secundum type | -| GARD:10696 | Atrial septal defect, sinus venosus type | -| GARD:16566 | Atrial septal defect-atrioventricular conduction defects syndrome | -| GARD:16564 | Atrial standstill | -| GARD:18611 | Atrial standstill 1 | -| GARD:18612 | Atrial standstill 2 | -| GARD:16762 | Atrichia with papular lesions | -| GARD:2742 | Atrioventricular defect-blepharophimosis-radial and anal defect syndrome | -| GARD:802 | Atrioventricular septal defect | -| GARD:19554 | Atrioventricular valve anomaly | -| GARD:12675 | Atrophic lichen planus | -| GARD:9744 | Atrophoderma vermiculata | -| GARD:21527 | Attenuated Chédiak-Higashi syndrome | -| GARD:8532 | Attenuated familial adenomatous polyposis | -| GARD:22238 | Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome | -| GARD:12503 | Atypical Gaucher disease due to saposin C deficiency | -| GARD:21374 | Atypical Meigs syndrome | -| GARD:20782 | Atypical Norrie disease due to Xp11.3 microdeletion | -| GARD:4694 | Atypical Rett syndrome | -| GARD:22382 | Atypical Timothy syndrome | -| GARD:11910 | Atypical Werner syndrome | -| GARD:20336 | Atypical autism | -| GARD:19583 | Atypical chronic myeloid leukemia | -| GARD:18723 | Atypical coarctation of aorta | -| GARD:17433 | Atypical dentin dysplasia due to SMOC2 deficiency | -| GARD:17334 | Atypical glycine encephalopathy | -| GARD:8702 | Atypical hemolytic uremic syndrome | -| GARD:16823 | Atypical hemolytic uremic syndrome with anti-factor H antibodies | -| GARD:17986 | Atypical hemolytic uremic syndrome with complement gene abnormality | -| GARD:17175 | Atypical hypotonia-cystinuria syndrome | -| GARD:17621 | Atypical juvenile parkinsonism | -| GARD:19066 | Atypical lichen myxedematosus | -| GARD:17115 | Atypical pantothenate kinase-associated neurodegeneration | -| GARD:20723 | Atypical papilloma of choroid plexus | -| GARD:4507 | Atypical progressive supranuclear palsy syndrome | -| GARD:16926 | Atypical teratoid rhabdoid tumor | -| GARD:20077 | Audiogenic seizures | -| GARD:18127 | Auditory neuropathy, autosomal dominant 1 | -| GARD:17983 | Auditory neuropathy-optic atrophy syndrome | -| GARD:18275 | Aural atresia, congenital | -| GARD:18933 | Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome | -| GARD:9798 | Auriculocondylar syndrome | -| GARD:15346 | Auriculocondylar syndrome 1 | -| GARD:15831 | Auriculocondylar syndrome 2 | -| GARD:16003 | Auriculocondylar syndrome 3 | -| GARD:8663 | Auriculoosteodysplasia | -| GARD:17520 | Autism spectrum disorder due to AUTS2 deficiency | -| GARD:17604 | Autism spectrum disorder-epilepsy-arthrogryposis syndrome | -| GARD:17389 | Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | -| GARD:10303 | Autism-facial port-wine stain syndrome | -| GARD:6481 | Autoerythrocyte sensitization syndrome | -| GARD:19028 | Autoimmune bullous skin disease | -| GARD:21400 | Autoimmune disease with skin involvement | -| GARD:11979 | Autoimmune encephalitis | -| GARD:21749 | Autoimmune encephalopathy with parasomnia and obstructive sleep apnea | -| GARD:12314 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | -| GARD:5870 | Autoimmune hemolytic anemia | -| GARD:20590 | Autoimmune hemolytic anemia, cold type | -| GARD:7876 | Autoimmune hemolytic anemia, warm type | -| GARD:17766 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | -| GARD:5871 | Autoimmune hepatitis | -| GARD:22251 | Autoimmune hepatitis type 1 | -| GARD:22252 | Autoimmune hepatitis type 2 | -| GARD:18824 | Autoimmune hypoparathyroidism | -| GARD:17762 | Autoimmune interstitial lung disease-arthritis syndrome | -| GARD:22492 | Autoimmune limbic encephalitis | -| GARD:8686 | Autoimmune lymphoproliferative syndrome | -| GARD:12316 | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | -| GARD:9796 | Autoimmune lymphoproliferative syndrome with recurrent viral infections | -| GARD:15361 | Autoimmune lymphoproliferative syndrome, type iia | -| GARD:15987 | Autoimmune lymphoproliferative syndrome, type iii | -| GARD:19575 | Autoimmune neurological channelopathy | -| GARD:10911 | Autoimmune pancreatitis | -| GARD:21076 | Autoimmune pancreatitis type 1 | -| GARD:21077 | Autoimmune pancreatitis type 2 | -| GARD:21116 | Autoimmune polyendocrinopathy | -| GARD:8466 | Autoimmune polyendocrinopathy type 1 | -| GARD:7611 | Autoimmune polyendocrinopathy type 2 | -| GARD:10980 | Autoimmune polyendocrinopathy type 3 | -| GARD:20567 | Autoimmune polyendocrinopathy type 4 | -| GARD:7499 | Autoimmune pulmonary alveolar proteinosis | -| GARD:18906 | Autoimmune thrombocytopenia | -| GARD:22037 | Autoimmune/inflammatory optic neuropathy | -| GARD:17486 | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | -| GARD:19234 | Autoinflammatory syndrome | -| GARD:21427 | Autoinflammatory syndrome of childhood | -| GARD:21161 | Autoinflammatory syndrome with immune deficiency | -| GARD:17494 | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | -| GARD:21162 | Autoinflammatory syndrome with skin involvement | -| GARD:9640 | Autosomal agammaglobulinemia | -| GARD:19417 | Autosomal anomaly | -| GARD:624 | Autosomal dominant Alport syndrome | -| GARD:12431 | Autosomal dominant Charcot-Marie-Tooth disease type 2 | -| GARD:21999 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | -| GARD:21447 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation | -| GARD:21815 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation | -| GARD:12447 | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | -| GARD:1248 | Autosomal dominant Charcot-Marie-Tooth disease type 2A1 | -| GARD:16925 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | -| GARD:9192 | Autosomal dominant Charcot-Marie-Tooth disease type 2B | -| GARD:1250 | Autosomal dominant Charcot-Marie-Tooth disease type 2C | -| GARD:1251 | Autosomal dominant Charcot-Marie-Tooth disease type 2D | -| GARD:17959 | Autosomal dominant Charcot-Marie-Tooth disease type 2DD | -| GARD:9193 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | -| GARD:9194 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | -| GARD:9195 | Autosomal dominant Charcot-Marie-Tooth disease type 2G | -| GARD:9197 | Autosomal dominant Charcot-Marie-Tooth disease type 2I | -| GARD:9198 | Autosomal dominant Charcot-Marie-Tooth disease type 2J | -| GARD:9199 | Autosomal dominant Charcot-Marie-Tooth disease type 2K | -| GARD:12432 | Autosomal dominant Charcot-Marie-Tooth disease type 2L | -| GARD:17147 | Autosomal dominant Charcot-Marie-Tooth disease type 2M | -| GARD:12429 | Autosomal dominant Charcot-Marie-Tooth disease type 2N | -| GARD:12434 | Autosomal dominant Charcot-Marie-Tooth disease type 2O | -| GARD:12446 | Autosomal dominant Charcot-Marie-Tooth disease type 2Q | -| GARD:17638 | Autosomal dominant Charcot-Marie-Tooth disease type 2U | -| GARD:17777 | Autosomal dominant Charcot-Marie-Tooth disease type 2V | -| GARD:17891 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | -| GARD:17714 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | -| GARD:17829 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | -| GARD:16865 | Autosomal dominant Emery-Dreifuss muscular dystrophy | -| GARD:83 | Autosomal dominant Kenny-Caffey syndrome | -| GARD:16620 | Autosomal dominant Robinow syndrome | -| GARD:17102 | Autosomal dominant adult-onset proximal spinal muscular atrophy | -| GARD:17420 | Autosomal dominant aplasia and myelodysplasia | -| GARD:10429 | Autosomal dominant brachyolmia | -| GARD:12719 | Autosomal dominant centronuclear myopathy | -| GARD:4346 | Autosomal dominant cerebellar ataxia | -| GARD:19252 | Autosomal dominant cerebellar ataxia type I | -| GARD:20405 | Autosomal dominant cerebellar ataxia type II | -| GARD:19253 | Autosomal dominant cerebellar ataxia type III | -| GARD:19254 | Autosomal dominant cerebellar ataxia type IV | -| GARD:12372 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | -| GARD:17559 | Autosomal dominant childhood-onset proximal spinal muscular atrophy | -| GARD:18722 | Autosomal dominant coarctation of aorta | -| GARD:19770 | Autosomal dominant complex spastic paraplegia | -| GARD:1474 | Autosomal dominant congenital benign spinal muscular atrophy | -| GARD:1639 | Autosomal dominant cutis laxa | -| GARD:4732 | Autosomal dominant deafness-onychodystrophy syndrome | -| GARD:21292 | Autosomal dominant diffuse mutilating palmoplantar keratoderma | -| GARD:19449 | Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature | -| GARD:21301 | Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature | -| GARD:19448 | Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature | -| GARD:21949 | Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome | -| GARD:19926 | Autosomal dominant distal hereditary motor neuropathy | -| GARD:20361 | Autosomal dominant distal myopathy | -| GARD:4668 | Autosomal dominant distal renal tubular acidosis | -| GARD:9817 | Autosomal dominant dopa-responsive dystonia | -| GARD:1039 | Autosomal dominant epidermolytic ichthyosis | -| GARD:2257 | Autosomal dominant epilepsy with auditory features | -| GARD:10667 | Autosomal dominant focal dystonia, DYT25 type | -| GARD:17669 | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | -| GARD:2139 | Autosomal dominant generalized dystrophic epidermolysis bullosa | -| GARD:2147 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | -| GARD:2141 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | -| GARD:19924 | Autosomal dominant hereditary axonal motor and sensory neuropathy | -| GARD:19923 | Autosomal dominant hereditary demyelinating motor and sensory neuropathy | -| GARD:19928 | Autosomal dominant hereditary sensory and autonomic neuropathy | -| GARD:6800 | Autosomal dominant hyper-IgE syndrome | -| GARD:17284 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | -| GARD:17283 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | -| GARD:2877 | Autosomal dominant hypocalcemia | -| GARD:2048 | Autosomal dominant hypohidrotic ectodermal dysplasia | -| GARD:16781 | Autosomal dominant hypophosphatemic rickets | -| GARD:17797 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | -| GARD:12436 | Autosomal dominant intermediate Charcot-Marie-Tooth disease | -| GARD:12437 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type A | -| GARD:12438 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type B | -| GARD:12439 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type C | -| GARD:9207 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | -| GARD:12011 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E | -| GARD:9206 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | -| GARD:21446 | Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain | -| GARD:19447 | Autosomal dominant isolated diffuse palmoplantar keratoderma | -| GARD:3089 | Autosomal dominant keratitis | -| GARD:19824 | Autosomal dominant limb-girdle muscular dystrophy | -| GARD:10229 | Autosomal dominant limb-girdle muscular dystrophy type 1A | -| GARD:12532 | Autosomal dominant limb-girdle muscular dystrophy type 1H | -| GARD:16965 | Autosomal dominant macrothrombocytopenia | -| GARD:21424 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency | -| GARD:17461 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | -| GARD:21425 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | -| GARD:17794 | Autosomal dominant mitochondrial myopathy with exercise intolerance | -| GARD:13058 | Autosomal dominant multiple pterygium syndrome | -| GARD:16917 | Autosomal dominant myoglobinuria | -| GARD:21838 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | -| GARD:17497 | Autosomal dominant neovascular inflammatory vitreoretinopathy | -| GARD:11918 | Autosomal dominant nocturnal frontal lobe epilepsy | -| GARD:12107 | Autosomal dominant non-syndromic intellectual disability | -| GARD:16791 | Autosomal dominant non-syndromic sensorineural deafness type DFNA | -| GARD:3643 | Autosomal dominant omodysplasia | -| GARD:11972 | Autosomal dominant optic atrophy | -| GARD:10203 | Autosomal dominant optic atrophy and cataract | -| GARD:20686 | Autosomal dominant optic atrophy and peripheral neuropathy | -| GARD:5243 | Autosomal dominant optic atrophy plus syndrome | -| GARD:9890 | Autosomal dominant optic atrophy, classic form | -| GARD:4151 | Autosomal dominant osteopetrosis type 1 | -| GARD:5021 | Autosomal dominant otospondylomegaepiphyseal dysplasia | -| GARD:604 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | -| GARD:10413 | Autosomal dominant polycystic kidney disease | -| GARD:9481 | Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis | -| GARD:3242 | Autosomal dominant popliteal pterygium syndrome | -| GARD:21953 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | -| GARD:3350 | Autosomal dominant primary hypomagnesemia with hypocalciuria | -| GARD:3605 | Autosomal dominant primary microcephaly | -| GARD:10319 | Autosomal dominant prognathism | -| GARD:16486 | Autosomal dominant progressive external ophthalmoplegia | -| GARD:16772 | Autosomal dominant progressive nephropathy with hypertension | -| GARD:21394 | Autosomal dominant proximal renal tubular acidosis | -| GARD:20454 | Autosomal dominant proximal spinal muscular atrophy | -| GARD:19771 | Autosomal dominant pure spastic paraplegia | -| GARD:17104 | Autosomal dominant rhegmatogenous retinal detachment | -| GARD:17189 | Autosomal dominant secondary polycythemia | -| GARD:9558 | Autosomal dominant severe congenital neutropenia | -| GARD:16962 | Autosomal dominant slowed nerve conduction velocity | -| GARD:21402 | Autosomal dominant spastic ataxia | -| GARD:17206 | Autosomal dominant spastic ataxia type 1 | -| GARD:9590 | Autosomal dominant spastic paraplegia type 10 | -| GARD:9586 | Autosomal dominant spastic paraplegia type 12 | -| GARD:9616 | Autosomal dominant spastic paraplegia type 13 | -| GARD:4219 | Autosomal dominant spastic paraplegia type 17 | -| GARD:9588 | Autosomal dominant spastic paraplegia type 19 | -| GARD:9729 | Autosomal dominant spastic paraplegia type 29 | -| GARD:5041 | Autosomal dominant spastic paraplegia type 3 | -| GARD:10817 | Autosomal dominant spastic paraplegia type 31 | -| GARD:17472 | Autosomal dominant spastic paraplegia type 36 | -| GARD:17064 | Autosomal dominant spastic paraplegia type 37 | -| GARD:17065 | Autosomal dominant spastic paraplegia type 38 | -| GARD:4925 | Autosomal dominant spastic paraplegia type 4 | -| GARD:17471 | Autosomal dominant spastic paraplegia type 41 | -| GARD:17073 | Autosomal dominant spastic paraplegia type 42 | -| GARD:4928 | Autosomal dominant spastic paraplegia type 6 | -| GARD:17763 | Autosomal dominant spastic paraplegia type 73 | -| GARD:9591 | Autosomal dominant spastic paraplegia type 8 | -| GARD:9583 | Autosomal dominant spastic paraplegia type 9A | -| GARD:21866 | Autosomal dominant spastic paraplegia type 9B | -| GARD:12806 | Autosomal dominant spondylocostal dysostosis | -| GARD:17146 | Autosomal dominant striatal neurodegeneration | -| GARD:17835 | Autosomal dominant thrombocytopenia with platelet secretion defect | -| GARD:10801 | Autosomal dominant tubulointerstitial kidney disease | -| GARD:5507 | Autosomal dominant vitreoretinochoroidopathy | -| GARD:4527 | Autosomal erythropoietic protoporphyria | -| GARD:21110 | Autosomal ichthyosis syndrome | -| GARD:21113 | Autosomal ichthyosis syndrome with fatal disease course | -| GARD:21114 | Autosomal ichthyosis syndrome with other associated signs | -| GARD:21111 | Autosomal ichthyosis syndrome with prominent hair abnormalities | -| GARD:21112 | Autosomal ichthyosis syndrome with prominent neurologic signs | -| GARD:19826 | Autosomal monosomy | -| GARD:625 | Autosomal recessive Alport syndrome | -| GARD:17830 | Autosomal recessive Charcot-Marie-Tooth disease type 2X | -| GARD:12448 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | -| GARD:16866 | Autosomal recessive Emery-Dreifuss muscular dystrophy | -| GARD:8367 | Autosomal recessive Kenny-Caffey syndrome | -| GARD:16568 | Autosomal recessive Robinow syndrome | -| GARD:17203 | Autosomal recessive Stickler syndrome | -| GARD:16554 | Autosomal recessive amelia | -| GARD:17954 | Autosomal recessive anterior segment dysgenesis | -| GARD:20666 | Autosomal recessive ataxia due to PEX10 deficiency | -| GARD:10294 | Autosomal recessive ataxia due to ubiquinone deficiency | -| GARD:12234 | Autosomal recessive ataxia, Beauce type | -| GARD:22143 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | -| GARD:12449 | Autosomal recessive axonal hereditary motor and sensory neuropathy | -| GARD:12353 | Autosomal recessive axonal neuropathy with neuromyotonia | -| GARD:10301 | Autosomal recessive bestrophinopathy | -| GARD:13171 | Autosomal recessive brachyolmia | -| GARD:12718 | Autosomal recessive centronuclear myopathy | -| GARD:18718 | Autosomal recessive cerebellar ataxia | -| GARD:17786 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | -| GARD:17689 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | -| GARD:19414 | Autosomal recessive cerebellar ataxia due to a DNA repair defect | -| GARD:21525 | Autosomal recessive cerebellar ataxia with late-onset spasticity | -| GARD:21719 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome | -| GARD:17678 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency | -| GARD:17677 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency | -| GARD:17313 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency | -| GARD:4952 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | -| GARD:17312 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome | -| GARD:17556 | Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | -| GARD:1199 | Autosomal recessive cerebelloparenchymal disorder type 3 | -| GARD:21560 | Autosomal recessive cerebral atrophy | -| GARD:16603 | Autosomal recessive chorioretinopathy-microcephaly syndrome | -| GARD:19772 | Autosomal recessive complex spastic paraplegia | -| GARD:17946 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | -| GARD:19412 | Autosomal recessive congenital cerebellar ataxia | -| GARD:17557 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | -| GARD:17481 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | -| GARD:21106 | Autosomal recessive congenital ichthyosis | -| GARD:8480 | Autosomal recessive cutis laxa type 1 | -| GARD:19134 | Autosomal recessive cutis laxa type 2 | -| GARD:17546 | Autosomal recessive cutis laxa type 2, classic type | -| GARD:1638 | Autosomal recessive cutis laxa type 2A | -| GARD:1641 | Autosomal recessive cutis laxa type 2B | -| GARD:19415 | Autosomal recessive degenerative and progressive cerebellar ataxia | -| GARD:21302 | Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature | -| GARD:21293 | Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature | -| GARD:19451 | Autosomal recessive disease with focal palmoplantar keratoderma as a major feature | -| GARD:19927 | Autosomal recessive distal hereditary motor neuropathy | -| GARD:20362 | Autosomal recessive distal myopathy | -| GARD:4299 | Autosomal recessive distal osteolysis syndrome | -| GARD:4666 | Autosomal recessive distal renal tubular acidosis | -| GARD:1902 | Autosomal recessive dopa-responsive dystonia | -| GARD:22074 | Autosomal recessive epidermolytic ichthyosis | -| GARD:17996 | Autosomal recessive extra-oral halitosis | -| GARD:5124 | Autosomal recessive faciodigitogenital syndrome | -| GARD:21489 | Autosomal recessive frontotemporal pachygyria | -| GARD:12794 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | -| GARD:6308 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | -| GARD:16778 | Autosomal recessive generalized epidermolysis bullosa simplex | -| GARD:19925 | Autosomal recessive hereditary demyelinating motor and sensory neuropathy | -| GARD:19929 | Autosomal recessive hereditary sensory and autonomic neuropathy | -| GARD:16727 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | -| GARD:16726 | Autosomal recessive hyperinsulinism due to SUR1 deficiency | -| GARD:2057 | Autosomal recessive hypohidrotic ectodermal dysplasia | -| GARD:17320 | Autosomal recessive hypophosphatemic rickets | -| GARD:17374 | Autosomal recessive infantile hypercalcemia | -| GARD:12452 | Autosomal recessive intermediate Charcot-Marie-Tooth disease | -| GARD:12453 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | -| GARD:12454 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type B | -| GARD:17587 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C | -| GARD:17723 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D | -| GARD:19450 | Autosomal recessive isolated diffuse palmoplantar keratoderma | -| GARD:16860 | Autosomal recessive isolated optic atrophy | -| GARD:17976 | Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy | -| GARD:21378 | Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome | -| GARD:19825 | Autosomal recessive limb-girdle muscular dystrophy | -| GARD:17101 | Autosomal recessive lower motor neuron disease with childhood onset | -| GARD:15012 | Autosomal recessive malignant osteopetrosis | -| GARD:21422 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency | -| GARD:21423 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency | -| GARD:17861 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | -| GARD:17459 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | -| GARD:17460 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | -| GARD:22319 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency | -| GARD:19413 | Autosomal recessive metabolic cerebellar ataxia | -| GARD:7111 | Autosomal recessive multiple pterygium syndrome | -| GARD:17447 | Autosomal recessive myogenic arthrogryposis multiplex congenita | -| GARD:18650 | Autosomal recessive nail dysplasia | -| GARD:18643 | Autosomal recessive non-syndromic intellectual disability | -| GARD:18644 | Autosomal recessive non-syndromic sensorineural deafness type DFNB | -| GARD:4076 | Autosomal recessive omodysplasia | -| GARD:17143 | Autosomal recessive optic atrophy, OPA7 type | -| GARD:1139 | Autosomal recessive palmoplantar keratoderma and congenital alopecia | -| GARD:8378 | Autosomal recessive polycystic kidney disease | -| GARD:17732 | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | -| GARD:12117 | Autosomal recessive primary microcephaly | -| GARD:1191 | Autosomal recessive progressive external ophthalmoplegia | -| GARD:16826 | Autosomal recessive proximal renal tubular acidosis | -| GARD:19773 | Autosomal recessive pure spastic paraplegia | -| GARD:20658 | Autosomal recessive secondary polycythemia not associated with VHL gene | -| GARD:21834 | Autosomal recessive severe congenital neutropenia | -| GARD:17698 | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | -| GARD:21747 | Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency | -| GARD:17511 | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | -| GARD:17702 | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | -| GARD:17240 | Autosomal recessive sideroblastic anemia | -| GARD:21403 | Autosomal recessive spastic ataxia | -| GARD:4910 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | -| GARD:17425 | Autosomal recessive spastic ataxia with leukoencephalopathy | -| GARD:10992 | Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome | -| GARD:4919 | Autosomal recessive spastic paraplegia type 11 | -| GARD:9589 | Autosomal recessive spastic paraplegia type 14 | -| GARD:9581 | Autosomal recessive spastic paraplegia type 15 | -| GARD:4922 | Autosomal recessive spastic paraplegia type 18 | -| GARD:5372 | Autosomal recessive spastic paraplegia type 20 | -| GARD:16939 | Autosomal recessive spastic paraplegia type 21 | -| GARD:336 | Autosomal recessive spastic paraplegia type 23 | -| GARD:9296 | Autosomal recessive spastic paraplegia type 24 | -| GARD:9582 | Autosomal recessive spastic paraplegia type 25 | -| GARD:9587 | Autosomal recessive spastic paraplegia type 26 | -| GARD:16940 | Autosomal recessive spastic paraplegia type 27 | -| GARD:16941 | Autosomal recessive spastic paraplegia type 28 | -| GARD:12749 | Autosomal recessive spastic paraplegia type 32 | -| GARD:10538 | Autosomal recessive spastic paraplegia type 35 | -| GARD:4924 | Autosomal recessive spastic paraplegia type 39 | -| GARD:17473 | Autosomal recessive spastic paraplegia type 43 | -| GARD:17478 | Autosomal recessive spastic paraplegia type 44 | -| GARD:17477 | Autosomal recessive spastic paraplegia type 45 | -| GARD:17476 | Autosomal recessive spastic paraplegia type 46 | -| GARD:17378 | Autosomal recessive spastic paraplegia type 48 | -| GARD:17445 | Autosomal recessive spastic paraplegia type 53 | -| GARD:17475 | Autosomal recessive spastic paraplegia type 54 | -| GARD:17474 | Autosomal recessive spastic paraplegia type 55 | -| GARD:17480 | Autosomal recessive spastic paraplegia type 56 | -| GARD:17712 | Autosomal recessive spastic paraplegia type 57 | -| GARD:21695 | Autosomal recessive spastic paraplegia type 59 | -| GARD:4926 | Autosomal recessive spastic paraplegia type 5A | -| GARD:21696 | Autosomal recessive spastic paraplegia type 60 | -| GARD:17656 | Autosomal recessive spastic paraplegia type 61 | -| GARD:17657 | Autosomal recessive spastic paraplegia type 62 | -| GARD:17658 | Autosomal recessive spastic paraplegia type 63 | -| GARD:17659 | Autosomal recessive spastic paraplegia type 64 | -| GARD:21697 | Autosomal recessive spastic paraplegia type 66 | -| GARD:21698 | Autosomal recessive spastic paraplegia type 67 | -| GARD:21699 | Autosomal recessive spastic paraplegia type 69 | -| GARD:21700 | Autosomal recessive spastic paraplegia type 70 | -| GARD:21701 | Autosomal recessive spastic paraplegia type 71 | -| GARD:17842 | Autosomal recessive spastic paraplegia type 74 | -| GARD:17813 | Autosomal recessive spastic paraplegia type 75 | -| GARD:17892 | Autosomal recessive spastic paraplegia type 76 | -| GARD:17827 | Autosomal recessive spastic paraplegia type 77 | -| GARD:17952 | Autosomal recessive spastic paraplegia type 78 | -| GARD:17770 | Autosomal recessive spastic paraplegia type 9B | -| GARD:9971 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | -| GARD:6798 | Autosomal recessive spondylocostal dysostosis | -| GARD:17667 | Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type | -| GARD:19416 | Autosomal recessive syndromic cerebellar ataxia | -| GARD:21080 | Autosomal semi-dominant severe lipodystrophic laminopathy | -| GARD:16942 | Autosomal spastic paraplegia type 30 | -| GARD:17644 | Autosomal spastic paraplegia type 58 | -| GARD:17660 | Autosomal spastic paraplegia type 72 | -| GARD:17368 | Autosomal systemic lupus erythematosus | -| GARD:17041 | Autosomal thrombocytopenia with normal platelets | -| GARD:19418 | Autosomal trisomy | -| GARD:19423 | Autosomal uniparental disomy | -| GARD:21658 | Avascular necrosis | -| GARD:21668 | Avascular necrosis of genetic origin | -| GARD:21897 | Avian influenza | -| GARD:16485 | Axenfeld anomaly | -| GARD:5701 | Axenfeld-Rieger syndrome | -| GARD:10281 | Axenfeld-rieger syndrome, type 1 | -| GARD:10517 | Axenfeld-rieger syndrome, type 2 | -| GARD:9626 | Axenfeld-rieger syndrome, type 3 | -| GARD:213 | Axial mesodermal dysplasia spectrum | -| GARD:8720 | Axial spondylometaphyseal dysplasia | -| GARD:21951 | Axonal hereditary motor and sensory neuropathy | -| GARD:20415 | Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy | -| GARD:958 | Aymé-Gripp syndrome | -| GARD:19662 | Azygos continuation of the inferior vena cava | -| GARD:6104 | B-cell chronic lymphocytic leukemia | -| GARD:22284 | B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome | -| GARD:20132 | B-cell non-Hodgkin lymphoma | -| GARD:8223 | B-cell prolymphocytic leukemia | -| GARD:22345 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | -| GARD:22346 | B-lymphoblastic leukemia/lymphoma with hypodiploidy | -| GARD:22341 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | -| GARD:22344 | B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) | -| GARD:22348 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | -| GARD:22347 | B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) | -| GARD:22342 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | -| GARD:22343 | B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) | -| GARD:17974 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | -| GARD:9841 | B4GALT1-CDG | -| GARD:9991 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | -| GARD:13219 | BAP1-related tumor predisposition syndrome | -| GARD:13339 | BENTA disease | -| GARD:13222 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | -| GARD:10595 | BNAR syndrome | -| GARD:10147 | BOR syndrome | -| GARD:16746 | BRESEK syndrome | -| GARD:17847 | BVES-related limb-girdle muscular dystrophy | -| GARD:5878 | Babesiosis | -| GARD:20378 | Bacterial myositis | -| GARD:12638 | Bacterial susceptibility due to TLR signaling pathway deficiency | -| GARD:9560 | Bacterial toxic-shock syndrome | -| GARD:13259 | Bainbridge-Ropers syndrome | -| GARD:809 | Balantidiasis | -| GARD:21558 | Balint syndrome | -| GARD:1602 | Baller-Gerold syndrome | -| GARD:5885 | Baló concentric sclerosis | -| GARD:414 | Bamforth-Lazarus syndrome | -| GARD:2250 | Band heterotopia | -| GARD:812 | Bangstad syndrome | -| GARD:813 | Banki syndrome | -| GARD:5887 | Bannayan-Riley-Ruvalcaba syndrome | -| GARD:5279 | Baraitser-Winter cerebrofrontofacial syndrome | -| GARD:15189 | Baraitser-winter syndrome 1 | -| GARD:15817 | Baraitser-winter syndrome 2 | -| GARD:819 | Barber-Say syndrome | -| GARD:6866 | Bardet-Biedl syndrome | -| GARD:820 | Bardet-biedl syndrome 1 | -| GARD:10209 | Bardet-biedl syndrome 10 | -| GARD:10210 | Bardet-biedl syndrome 11 | -| GARD:10211 | Bardet-biedl syndrome 12 | -| GARD:16037 | Bardet-biedl syndrome 13 | -| GARD:16038 | Bardet-biedl syndrome 14 | -| GARD:16039 | Bardet-biedl syndrome 15 | -| GARD:16040 | Bardet-biedl syndrome 16 | -| GARD:16041 | Bardet-biedl syndrome 17 | -| GARD:16042 | Bardet-biedl syndrome 18 | -| GARD:16043 | Bardet-biedl syndrome 19 | -| GARD:821 | Bardet-biedl syndrome 2 | -| GARD:16226 | Bardet-biedl syndrome 21 | -| GARD:16193 | Bardet-biedl syndrome 22 | -| GARD:822 | Bardet-biedl syndrome 3 | -| GARD:823 | Bardet-biedl syndrome 4 | -| GARD:10204 | Bardet-biedl syndrome 5 | -| GARD:10205 | Bardet-biedl syndrome 6 | -| GARD:10206 | Bardet-biedl syndrome 7 | -| GARD:10207 | Bardet-biedl syndrome 8 | -| GARD:10208 | Bardet-biedl syndrome 9 | -| GARD:10664 | Baroreflex failure | -| GARD:5890 | Barth syndrome | -| GARD:4436 | Bartsocas-Papas syndrome | -| GARD:10570 | Bartsocas-papas syndrome 1 | -| GARD:16444 | Bartsocas-papas syndrome 2 | -| GARD:5893 | Bartter syndrome | -| GARD:22482 | Bartter syndrome type 1 | -| GARD:22483 | Bartter syndrome type 2 | -| GARD:9659 | Bartter syndrome type 3 | -| GARD:10508 | Bartter syndrome type 4 | -| GARD:22308 | Bartter syndrome type 5 | -| GARD:15348 | Bartter syndrome, type 4a, neonatal, with sensorineural deafness | -| GARD:15612 | Bartter syndrome, type 4b, neonatal, with sensorineural deafness | -| GARD:20971 | Basal encephalocele | -| GARD:15893 | Basal ganglia calcification, idiopathic, 4 | -| GARD:15973 | Basal ganglia calcification, idiopathic, 5 | -| GARD:16107 | Basal ganglia calcification, idiopathic, 6 | -| GARD:16384 | Basal ganglia calcification, idiopathic, 8, autosomal recessive | -| GARD:9598 | Basal ganglia calcification, idiopathic, childhood-onset | -| GARD:15060 | Basal laminar drusen | -| GARD:17821 | Basel-Vanagaite-Smirin-Yosef syndrome | -| GARD:16938 | Bathing suit ichthyosis | -| GARD:20069 | Bazex syndrome | -| GARD:838 | Bazex-Dupré-Christol syndrome | -| GARD:5900 | Becker muscular dystrophy | -| GARD:3856 | Becker nevus syndrome | -| GARD:3343 | Beckwith-Wiedemann syndrome | -| GARD:20601 | Beckwith-Wiedemann syndrome due to 11p15 microdeletion | -| GARD:19308 | Beckwith-Wiedemann syndrome due to 11p15 microduplication | -| GARD:20602 | Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion | -| GARD:17160 | Beckwith-Wiedemann syndrome due to CDKN1C mutation | -| GARD:17178 | Beckwith-Wiedemann syndrome due to NSD1 mutation | -| GARD:20600 | Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | -| GARD:19342 | Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 | -| GARD:846 | Beemer-Ertbruggen syndrome | -| GARD:7392 | Behavioral variant of frontotemporal dementia | -| GARD:848 | Behçet disease | -| GARD:2633 | Bencze syndrome | -| GARD:21445 | Benign Samaritan congenital myopathy | -| GARD:16758 | Benign adult familial myoclonic epilepsy | -| GARD:20019 | Benign cephalic histiocytosis | -| GARD:19582 | Benign childhood occipital epilepsy, Gastaut type | -| GARD:19581 | Benign childhood occipital epilepsy, Panayiotopoulos type | -| GARD:9887 | Benign concentric annular macular dystrophy | -| GARD:17274 | Benign epithelial tumor of salivary glands | -| GARD:857 | Benign familial infantile epilepsy | -| GARD:17001 | Benign familial mesial temporal lobe epilepsy | -| GARD:1519 | Benign familial neonatal epilepsy | -| GARD:1518 | Benign familial neonatal-infantile seizures | -| GARD:18728 | Benign focal seizures of adolescence | -| GARD:1305 | Benign hereditary chorea | -| GARD:18860 | Benign idiopathic neonatal seizures | -| GARD:20075 | Benign infantile focal epilepsy with midline spikes and waves during sleep | -| GARD:20074 | Benign infantile seizures associated with mild gastroenteritis | -| GARD:21928 | Benign metanephric tumor | -| GARD:20445 | Benign nocturnal alternating hemiplegia of childhood | -| GARD:20071 | Benign non-familial infantile seizures | -| GARD:2170 | Benign occipital epilepsy | -| GARD:4176 | Benign paroxysmal tonic upgaze of childhood with ataxia | -| GARD:18913 | Benign paroxysmal torticollis of infancy | -| GARD:20072 | Benign partial epilepsy of infancy with complex partial seizures | -| GARD:20073 | Benign partial epilepsy with secondarily generalized seizures in infancy | -| GARD:20076 | Benign partial infantile seizures | -| GARD:7180 | Benign peripheral nerve sheath tumor | -| GARD:12185 | Benign recurrent intrahepatic cholestasis | -| GARD:10028 | Benign recurrent intrahepatic cholestasis type 1 | -| GARD:10029 | Benign recurrent intrahepatic cholestasis type 2 | -| GARD:4767 | Benign schwannoma | -| GARD:20203 | Benign tumor of fallopian tubes | -| GARD:2470 | Bernard-Soulier syndrome | -| GARD:15082 | Bernard-soulier syndrome, type a2, autosomal dominant | -| GARD:182 | Best vitelliform macular dystrophy | -| GARD:872 | Beta-ketothiolase deficiency | -| GARD:869 | Beta-mannosidosis | -| GARD:654 | Beta-mercaptolactate cysteine disulfiduria | -| GARD:12570 | Beta-propeller protein-associated neurodegeneration | -| GARD:3851 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | -| GARD:871 | Beta-thalassemia | -| GARD:21023 | Beta-thalassemia and related diseases | -| GARD:20607 | Beta-thalassemia associated with another hemoglobin anomaly | -| GARD:17163 | Beta-thalassemia intermedia | -| GARD:17162 | Beta-thalassemia major | -| GARD:20610 | Beta-thalassemia with other manifestations | -| GARD:17166 | Beta-thalassemia-X-linked thrombocytopenia syndrome | -| GARD:16669 | Beta-ureidopropionase deficiency | -| GARD:873 | Bethlem myopathy | -| GARD:16121 | Bethlem myopathy 2 | -| GARD:20177 | Bicervical bicornuate uterus and blind hemivagina | -| GARD:20178 | Bicervical bicornuate uterus with patent cervix and vagina | -| GARD:18944 | Bickerstaff brainstem encephalitis | -| GARD:20183 | Bicornuate uterus | -| GARD:882 | Biemond syndrome type 2 | -| GARD:10050 | Bietti crystalline dystrophy | -| GARD:884 | Bifid nose | -| GARD:15044 | Bifid nose, autosomal dominant | -| GARD:15142 | Bifid nose, autosomal recessive | -| GARD:19687 | Bifid uvula | -| GARD:4539 | Bifunctional enzyme deficiency | -| GARD:18897 | Bilateral acute depigmentation of the iris | -| GARD:10783 | Bilateral frontal polymicrogyria | -| GARD:10784 | Bilateral frontoparietal polymicrogyria | -| GARD:10786 | Bilateral generalized polymicrogyria | -| GARD:21409 | Bilateral massive adrenal hemorrhage | -| GARD:16966 | Bilateral microtia-deafness-cleft palate syndrome | -| GARD:9517 | Bilateral multicystic dysplastic kidney | -| GARD:10785 | Bilateral parasagittal parieto-occipital polymicrogyria | -| GARD:6011 | Bilateral perisylvian polymicrogyria | -| GARD:17269 | Bilateral polymicrogyria | -| GARD:6406 | Bilateral striopallidodentate calcinosis | -| GARD:21041 | Bile acid CoA ligase deficiency and defective amidation | -| GARD:20048 | Bile acid synthesis defect with cholestasis and malabsorption | -| GARD:22018 | Biliary atresia and associated disorders | -| GARD:20652 | Biliary atresia with splenic malformation syndrome | -| GARD:15043 | Biliary cirrhosis, primary, 1 | -| GARD:15601 | Biliary cirrhosis, primary, 2 | -| GARD:15602 | Biliary cirrhosis, primary, 3 | -| GARD:15776 | Biliary cirrhosis, primary, 4 | -| GARD:15777 | Biliary cirrhosis, primary, 5 | -| GARD:21790 | Biliary cystadenocarcinoma | -| GARD:6830 | Bilirubin encephalopathy | -| GARD:21873 | Biological anomaly without phenotypic characterization | -| GARD:10237 | Biotin-thiamine-responsive basal ganglia disease | -| GARD:894 | Biotinidase deficiency | -| GARD:21566 | Bipartite talus | -| GARD:5926 | Birdshot chorioretinopathy | -| GARD:2322 | Birt-Hogg-Dubé syndrome | -| GARD:22 | Björnstad syndrome | -| GARD:6274 | Blackfan-Diamond anemia | -| GARD:6398 | Bladder exstrophy | -| GARD:19603 | Blake pouch cyst | -| GARD:304 | Blau syndrome | -| GARD:16691 | Bleeding diathesis due to a collagen receptor defect | -| GARD:13293 | Bleeding diathesis due to glycoprotein VI deficiency | -| GARD:16868 | Bleeding diathesis due to integrin alpha2-beta1 deficiency | -| GARD:17132 | Bleeding diathesis due to thromboxane synthesis deficiency | -| GARD:17695 | Bleeding disorder due to CalDAG-GEFI deficiency | -| GARD:12478 | Bleeding disorder due to P2Y12 defect | -| GARD:17076 | Bleeding disorder in hemophilia A carriers | -| GARD:17077 | Bleeding disorder in hemophilia B carriers | -| GARD:18272 | Bleeding disorder, platelet-type, 15 | -| GARD:15117 | Bleeding disorder, platelet-type, 17 | -| GARD:18491 | Bleeding disorder, platelet-type, 20 | -| GARD:16230 | Bleeding disorder, platelet-type, 21 | -| GARD:18273 | Bleeding disorder, platelet-type, 24 | -| GARD:2071 | Blepharo-cheilo-odontic syndrome | -| GARD:16244 | Blepharocheilodontic syndrome 2 | -| GARD:4238 | Blepharonasofacial malformation syndrome | -| GARD:10892 | Blepharophimosis-intellectual disability syndrome | -| GARD:17341 | Blepharophimosis-intellectual disability syndrome, MKB type | -| GARD:3348 | Blepharophimosis-intellectual disability syndrome, Ohdo type | -| GARD:16618 | Blepharophimosis-intellectual disability syndrome, SBBYS type | -| GARD:17342 | Blepharophimosis-intellectual disability syndrome, Verloes type | -| GARD:22398 | Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome | -| GARD:23 | Blepharophimosis-ptosis-epicanthus inversus syndrome | -| GARD:22312 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | -| GARD:18008 | Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 | -| GARD:10213 | Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 | -| GARD:905 | Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome | -| GARD:912 | Blepharoptosis-myopia-ectopia lentis syndrome | -| GARD:7008 | Blepharospasm-oromandibular dystonia syndrome | -| GARD:17070 | Blindness-scoliosis-arachnodactyly syndrome | -| GARD:914 | Blomstrand lethal chondrodysplasia | -| GARD:915 | Bloom syndrome | -| GARD:916 | Blount disease | -| GARD:15217 | Blount disease, adolescent | -| GARD:15120 | Blount disease, infantile | -| GARD:917 | Blue cone monochromatism | -| GARD:5939 | Blue diaper syndrome | -| GARD:5940 | Blue rubber bleb nevus | -| GARD:13063 | Bockenheimer syndrome | -| GARD:22496 | Body integrity dysphoria | -| GARD:16796 | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | -| GARD:10140 | Bohring-Opitz syndrome | -| GARD:21412 | Bolivian hemorrhagic fever | -| GARD:922 | Bone dysplasia, lethal Holmgren type | -| GARD:15920 | Bone mineral density quantitative trait locus 16 | -| GARD:20547 | Bone sarcoma | -| GARD:2113 | Bonnemann-Meinecke-Reich syndrome | -| GARD:933 | Boomerang dysplasia | -| GARD:9363 | Borderline epithelial tumor of ovary | -| GARD:936 | Borjeson-Forssman-Lehmann syndrome | -| GARD:16684 | Bosley-Salih-Alorainy syndrome | -| GARD:16734 | Bothnia retinal dystrophy | -| GARD:943 | Botulism | -| GARD:19031 | Boutonneuse fever | -| GARD:5950 | Bowen-Conradi syndrome | -| GARD:960 | Brachydactylous dwarfism, Mseleni type | -| GARD:978 | Brachydactyly type A1 | -| GARD:979 | Brachydactyly type A2 | -| GARD:990 | Brachydactyly type A4 | -| GARD:983 | Brachydactyly type A6 | -| GARD:984 | Brachydactyly type A7 | -| GARD:985 | Brachydactyly type B | -| GARD:18009 | Brachydactyly type B1 | -| GARD:16963 | Brachydactyly type B2 | -| GARD:986 | Brachydactyly type C | -| GARD:987 | Brachydactyly type E | -| GARD:15407 | Brachydactyly, type a1, b | -| GARD:15903 | Brachydactyly, type a1, c | -| GARD:16164 | Brachydactyly, type a1, d | -| GARD:15654 | Brachydactyly, type e2 | -| GARD:967 | Brachydactyly-arterial hypertension syndrome | -| GARD:966 | Brachydactyly-elbow wrist dysplasia syndrome | -| GARD:968 | Brachydactyly-long thumb syndrome | -| GARD:5036 | Brachydactyly-mesomelia-intellectual disability-heart defects syndrome | -| GARD:971 | Brachydactyly-nystagmus-cerebellar ataxia syndrome | -| GARD:972 | Brachydactyly-preaxial hallux varus syndrome | -| GARD:17017 | Brachydactyly-short stature-retinitis pigmentosa syndrome | -| GARD:16821 | Brachydactyly-syndactyly, Zhao type | -| GARD:918 | Brachymorphism-onychodysplasia-dysphalangism syndrome | -| GARD:10903 | Brachyolmia | -| GARD:995 | Brachyolmia type 1, hobaek type | -| GARD:4977 | Brachyolmia type 1, toledo type | -| GARD:16816 | Brachyolmia, Maroteaux type | -| GARD:5478 | Brachyolmia-amelogenesis imperfecta syndrome | -| GARD:1296 | Brachytelephalangic chondrodysplasia punctata | -| GARD:16562 | Brachytelephalangy-dysmorphism-Kallmann syndrome | -| GARD:16652 | Braddock syndrome | -| GARD:12299 | Bradyopsia | -| GARD:17082 | Brain calcification, Rajab type | -| GARD:8397 | Brain demyelination due to methionine adenosyltransferase deficiency | -| GARD:13594 | Brain dopamine-serotonin vesicular transport disease | -| GARD:19818 | Brain inflammatory disease | -| GARD:18926 | Brain malformation-congenital heart disease-postaxial polydactyly syndrome | -| GARD:13489 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | -| GARD:15107 | Brain small vessel disease 1 with or without ocular anomalies | -| GARD:15808 | Brain small vessel disease 2 | -| GARD:12163 | Brain-lung-thyroid syndrome | -| GARD:19907 | Branchial arch or oral-acral syndrome | -| GARD:3212 | Branchio-oculo-facial syndrome | -| GARD:16648 | Branchiogenic deafness syndrome | -| GARD:10148 | Branchiootic syndrome | -| GARD:15053 | Branchiootic syndrome 2 | -| GARD:15430 | Branchiootic syndrome 3 | -| GARD:15503 | Branchiootorenal syndrome 2 | -| GARD:955 | Branchioskeletogenital syndrome | -| GARD:21414 | Brazilian hemorrhagic fever | -| GARD:12351 | Breast-ovarian cancer, familial, susceptibility to, 1 | -| GARD:12352 | Breast-ovarian cancer, familial, susceptibility to, 2 | -| GARD:15657 | Breast-ovarian cancer, familial, susceptibility to, 3 | -| GARD:15785 | Breast-ovarian cancer, familial, susceptibility to, 4 | -| GARD:15045 | Breasts and/or nipples, aplasia or hypoplasia of, 1 | -| GARD:16044 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | -| GARD:19725 | Brill-Zinsser disease | -| GARD:1019 | Brittle cornea syndrome | -| GARD:15764 | Brittle cornea syndrome 2 | -| GARD:9158 | Brody myopathy | -| GARD:19360 | Bronchial neuroendocrine tumor | -| GARD:18054 | Bronchiectasis with or without elevated sweat chloride 1 | -| GARD:18055 | Bronchiectasis with or without elevated sweat chloride 2 | -| GARD:18056 | Bronchiectasis with or without elevated sweat chloride 3 | -| GARD:5961 | Bronchiolitis obliterans with obstructive pulmonary disease | -| GARD:1025 | Bronchogenic cyst | -| GARD:5962 | Bronchopulmonary dysplasia | -| GARD:10179 | Brooke-Spiegler syndrome | -| GARD:5966 | Brucellosis | -| GARD:1029 | Bruck syndrome | -| GARD:10023 | Bruck syndrome 2 | -| GARD:1030 | Brugada syndrome | -| GARD:15526 | Brugada syndrome 2 | -| GARD:10361 | Brugada syndrome 3 | -| GARD:10362 | Brugada syndrome 4 | -| GARD:15584 | Brugada syndrome 5 | -| GARD:15619 | Brugada syndrome 6 | -| GARD:15620 | Brugada syndrome 7 | -| GARD:15622 | Brugada syndrome 8 | -| GARD:16104 | Brugada syndrome 9 | -| GARD:5968 | Budd-Chiari syndrome | -| GARD:5969 | Buerger disease | -| GARD:20365 | Bulbospinal muscular atrophy | -| GARD:20367 | Bulbospinal muscular atrophy of adult | -| GARD:20366 | Bulbospinal muscular atrophy of childhood | -| GARD:21088 | Bullous diffuse cutaneous mastocytosis | -| GARD:18820 | Bullous impetigo | -| GARD:18808 | Bullous lichen planus | -| GARD:5972 | Bullous pemphigoid | -| GARD:22222 | Bullous pyoderma gangrenosum | -| GARD:18546 | Buratti-harel syndrome | -| GARD:5973 | Burkitt lymphoma | -| GARD:10041 | Burn-McKeown syndrome | -| GARD:5974 | Burning mouth syndrome | -| GARD:1044 | Buschke-Ollendorff syndrome | -| GARD:16890 | Butterfly-shaped pigment dystrophy | -| GARD:7482 | Butyrylcholinesterase deficiency | -| GARD:932 | Böök syndrome | -| GARD:5978 | C syndrome | -| GARD:17910 | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy | -| GARD:22015 | C12ORF65-related combined oxidative phosphorylation defect | -| GARD:12958 | C1q deficiency | -| GARD:16487 | C3 glomerulonephritis | -| GARD:17507 | C3 glomerulopathy | -| GARD:231 | CACH syndrome | -| GARD:13621 | CAD-CDG | -| GARD:12472 | CADDS | -| GARD:22467 | CADINS disease | -| GARD:9977 | CAMOS syndrome | -| GARD:9778 | CANOMAD syndrome | -| GARD:22228 | CAR T cell therapy-associated cytokine release syndrome | -| GARD:17845 | CCDC115-CDG | -| GARD:22417 | CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome | -| GARD:10556 | CD4+/CD56+ hematodermic neoplasm | -| GARD:12173 | CDKL5-deficiency disorder | -| GARD:22273 | CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome | -| GARD:9940 | CEDNIK syndrome | -| GARD:22306 | CELSR1-related late-onset primary lymphedema | -| GARD:1233 | CHAND syndrome | -| GARD:29 | CHARGE syndrome | -| GARD:13806 | CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome | -| GARD:6039 | CHILD syndrome | -| GARD:310 | CHIME syndrome | -| GARD:13169 | CHST3-related skeletal dysplasia | -| GARD:13125 | CIDEC-related familial partial lipodystrophy | -| GARD:1356 | CINCA syndrome | -| GARD:17210 | CK syndrome | -| GARD:17044 | CLAPO syndrome | -| GARD:17880 | CLCN4-related X-linked intellectual disability syndrome | -| GARD:18023 | CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome | -| GARD:10779 | CLIPPERS | -| GARD:1219 | CLN1 disease | -| GARD:1218 | CLN10 disease | -| GARD:17426 | CLN11 disease | -| GARD:17527 | CLN13 disease | -| GARD:3045 | CLN2 disease | -| GARD:5897 | CLN3 disease | -| GARD:6845 | CLN4A disease | -| GARD:1222 | CLN4B disease | -| GARD:1223 | CLN5 disease | -| GARD:1224 | CLN6 disease | -| GARD:1220 | CLN7 disease | -| GARD:17152 | CLN8 disease | -| GARD:6618 | CLN9 disease | -| GARD:10939 | CLOVES syndrome | -| GARD:16997 | CNTNAP2-related developmental and epileptic encephalopathy | -| GARD:12571 | COASY protein-associated neurodegeneration | -| GARD:1418 | CODAS syndrome | -| GARD:6027 | COFS syndrome | -| GARD:10226 | COG1-CDG | -| GARD:17720 | COG2-CDG | -| GARD:12412 | COG4-CDG | -| GARD:12348 | COG5-CDG | -| GARD:10944 | COG6-CGD | -| GARD:9842 | COG7-CDG | -| GARD:12411 | COG8-CDG | -| GARD:21961 | COL4A1 or COL4A2-related cerebral small vessel disease | -| GARD:21963 | COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy | -| GARD:21962 | COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy | -| GARD:12264 | COL4A1-related familial vascular leukoencephalopathy | -| GARD:17566 | CTCF-related neurodevelopmental disorder | -| GARD:1051 | Caffey disease | -| GARD:20329 | Calcifying aponeurotic fibroma | -| GARD:5980 | Calciphylaxis | -| GARD:21070 | Calciphylaxis cutis | -| GARD:22272 | Calpain-3-related limb-girdle muscular dystrophy D4 | -| GARD:1057 | Calpain-3-related limb-girdle muscular dystrophy R1 | -| GARD:16739 | Calvarial doughnut lesions-bone fragility syndrome | -| GARD:1061 | Campomelia, Cumming type | -| GARD:10027 | Campomelic dysplasia | -| GARD:19196 | Campomelic dysplasia and related disorders | -| GARD:1062 | Camptobrachydactyly | -| GARD:9448 | Camptodactyly of fingers | -| GARD:1067 | Camptodactyly syndrome, Guadalajara type 1 | -| GARD:1068 | Camptodactyly syndrome, Guadalajara type 2 | -| GARD:10573 | Camptodactyly syndrome, Guadalajara type 3 | -| GARD:306 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | -| GARD:1064 | Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome | -| GARD:216 | Camptodactyly-joint contractures-facial skeletal defects syndrome | -| GARD:10012 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | -| GARD:1069 | Camptodactyly-taurinuria syndrome | -| GARD:1071 | Camptomelic syndrome, long-limb type | -| GARD:1072 | Camurati-Engelmann disease | -| GARD:5984 | Canavan disease | -| GARD:18912 | Cancer-associated retinopathy | -| GARD:15418 | Candidiasis, familial, 3 | -| GARD:15617 | Candidiasis, familial, 4 | -| GARD:15093 | Candidiasis, familial, 6 | -| GARD:15981 | Candidiasis, familial, 8 | -| GARD:16114 | Candidiasis, familial, 9 | -| GARD:8585 | Cantú syndrome | -| GARD:11915 | Cap myopathy | -| GARD:20038 | Cap polyposis | -| GARD:11904 | Capillary malformation-arteriovenous malformation | -| GARD:16307 | Capillary malformation-arteriovenous malformation 2 | -| GARD:7269 | Carbamoyl-phosphate synthetase 1 deficiency | -| GARD:20474 | Carcinofibroma of the corpus uteri | -| GARD:5994 | Carcinoid syndrome | -| GARD:6383 | Carcinoma of esophagus | -| GARD:21741 | Carcinoma of esophagus, salivary gland type | -| GARD:18850 | Carcinoma of gallbladder and extrahepatic biliary tract | -| GARD:21786 | Carcinoma of liver and intrahepatic biliary tract | -| GARD:21237 | Carcinoma of the ampulla of Vater | -| GARD:21772 | Carcinoma of the anal canal | -| GARD:20491 | Carcinosarcoma of the cervix uteri | -| GARD:12335 | Carcinosarcoma of the corpus uteri | -| GARD:19883 | Cardiac anomalies-heterotaxy syndrome | -| GARD:15967 | Cardiac arrhythmia syndrome, with or without skeletal muscle weakness | -| GARD:10432 | Cardiac arrhythmia, ankyrin-b-related | -| GARD:1094 | Cardiac diverticulum | -| GARD:15148 | Cardiac lipidosis, familial | -| GARD:12613 | Cardiac-valvular Ehlers-Danlos syndrome | -| GARD:8586 | Cardiocranial syndrome, Pfeiffer type | -| GARD:9146 | Cardiofaciocutaneous syndrome | -| GARD:15935 | Cardiofaciocutaneous syndrome 2 | -| GARD:15936 | Cardiofaciocutaneous syndrome 3 | -| GARD:15937 | Cardiofaciocutaneous syndrome 4 | -| GARD:19362 | Cardiogenic shock | -| GARD:1104 | Cardiomyopathy, dilated, 1a | -| GARD:15543 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | -| GARD:15323 | Cardiomyopathy, dilated, 1b | -| GARD:15588 | Cardiomyopathy, dilated, 1bb | -| GARD:15331 | Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction | -| GARD:15621 | Cardiomyopathy, dilated, 1cc | -| GARD:15332 | Cardiomyopathy, dilated, 1d | -| GARD:15627 | Cardiomyopathy, dilated, 1dd | -| GARD:5644 | Cardiomyopathy, dilated, 1e | -| GARD:15639 | Cardiomyopathy, dilated, 1ee | -| GARD:15643 | Cardiomyopathy, dilated, 1ff | -| GARD:15363 | Cardiomyopathy, dilated, 1g | -| GARD:15684 | Cardiomyopathy, dilated, 1gg | -| GARD:15365 | Cardiomyopathy, dilated, 1h | -| GARD:15726 | Cardiomyopathy, dilated, 1hh | -| GARD:15372 | Cardiomyopathy, dilated, 1i | -| GARD:15916 | Cardiomyopathy, dilated, 1ii | -| GARD:15924 | Cardiomyopathy, dilated, 1jj | -| GARD:15382 | Cardiomyopathy, dilated, 1k | -| GARD:15926 | Cardiomyopathy, dilated, 1kk | -| GARD:15397 | Cardiomyopathy, dilated, 1l | -| GARD:15413 | Cardiomyopathy, dilated, 1m | -| GARD:16031 | Cardiomyopathy, dilated, 1nn | -| GARD:15434 | Cardiomyopathy, dilated, 1o | -| GARD:15469 | Cardiomyopathy, dilated, 1p | -| GARD:15470 | Cardiomyopathy, dilated, 1q | -| GARD:15661 | Cardiomyopathy, dilated, 1r | -| GARD:12832 | Cardiomyopathy, dilated, 1s | -| GARD:15689 | Cardiomyopathy, dilated, 1u | -| GARD:15690 | Cardiomyopathy, dilated, 1v | -| GARD:15515 | Cardiomyopathy, dilated, 1w | -| GARD:15522 | Cardiomyopathy, dilated, 1x | -| GARD:15530 | Cardiomyopathy, dilated, 1y | -| GARD:15531 | Cardiomyopathy, dilated, 1z | -| GARD:15532 | Cardiomyopathy, dilated, 2a | -| GARD:15832 | Cardiomyopathy, dilated, 2b | -| GARD:16305 | Cardiomyopathy, dilated, 2c | -| GARD:15287 | Cardiomyopathy, dilated, 3b | -| GARD:16014 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | -| GARD:18070 | Cardiomyopathy, familial restrictive, 1 | -| GARD:18071 | Cardiomyopathy, familial restrictive, 2 | -| GARD:18072 | Cardiomyopathy, familial restrictive, 3 | -| GARD:1102 | Cardiomyopathy-cataract-hip spine disease syndrome | -| GARD:16795 | Cardiomyopathy-hypotonia-lactic acidosis syndrome | -| GARD:2362 | Cardiospondylocarpofacial syndrome | -| GARD:3889 | Carey-Fineman-Ziter syndrome | -| GARD:19372 | Caribbean parkinsonism | -| GARD:1119 | Carney complex | -| GARD:15090 | Carney complex, type 1 | -| GARD:15377 | Carney complex, type 2 | -| GARD:17448 | Carney complex-trismus-pseudocamptodactyly syndrome | -| GARD:10924 | Carney triad | -| GARD:10643 | Carney-Stratakis syndrome | -| GARD:1120 | Carnitine palmitoyl transferase 1A deficiency | -| GARD:17149 | Carnitine palmitoyl transferase II deficiency, myopathic form | -| GARD:17151 | Carnitine palmitoyl transferase II deficiency, neonatal form | -| GARD:17150 | Carnitine palmitoyl transferase II deficiency, severe infantile form | -| GARD:1121 | Carnitine palmitoyltransferase II deficiency | -| GARD:1123 | Carnitine-acylcarnitine translocase deficiency | -| GARD:6001 | Carnosinase deficiency | -| GARD:6002 | Caroli disease | -| GARD:21976 | Caroli syndrome | -| GARD:6003 | Carpenter syndrome | -| GARD:15128 | Carpenter syndrome 1 | -| GARD:15889 | Carpenter syndrome 2 | -| GARD:1128 | Carpotarsal osteochondromatosis | -| GARD:6996 | Cartilage-hair hypoplasia | -| GARD:5595 | Carvajal syndrome | -| GARD:12656 | Castleman disease | -| GARD:26 | Cat-eye syndrome | -| GARD:27 | Cat-scratch disease | -| GARD:15047 | Cataract 1, multiple types | -| GARD:9892 | Cataract 18 | -| GARD:15327 | Cataract 24 | -| GARD:18232 | Cataract 25 | -| GARD:18235 | Cataract 27 | -| GARD:18233 | Cataract 29 | -| GARD:15335 | Cataract 3, multiple types | -| GARD:18236 | Cataract 33, multiple types | -| GARD:15599 | Cataract 34, multiple types | -| GARD:9492 | Cataract 35 | -| GARD:15800 | Cataract 37 | -| GARD:1144 | Cataract 4, multiple types | -| GARD:18234 | Cataract 41 | -| GARD:16127 | Cataract 44 | -| GARD:16350 | Cataract 48 | -| GARD:15046 | Cataract 7 | -| GARD:15364 | Cataract 9, multiple types | -| GARD:5554 | Cataract-aberrant oral frenula-growth delay syndrome | -| GARD:1141 | Cataract-ataxia-deafness syndrome | -| GARD:17440 | Cataract-congenital heart disease-neural tube defect syndrome | -| GARD:248 | Cataract-deafness-hypogonadism syndrome | -| GARD:1160 | Cataract-glaucoma syndrome | -| GARD:17727 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | -| GARD:1052 | Cataract-hypertrichosis-intellectual disability syndrome | -| GARD:192 | Cataract-intellectual disability-anal atresia-urinary defects syndrome | -| GARD:3406 | Cataract-intellectual disability-hypogonadism syndrome | -| GARD:1155 | Cataract-microcornea syndrome | -| GARD:1614 | Cataract-nephropathy-encephalopathy syndrome | -| GARD:9820 | Catastrophic antiphospholipid syndrome | -| GARD:4421 | Catecholaminergic polymorphic ventricular tachycardia | -| GARD:28 | Catel-Manzke syndrome | -| GARD:22320 | Cathepsin A-related arteriopathy-strokes-leukoencephalopathy | -| GARD:1163 | Caudal appendage-deafness syndrome | -| GARD:1164 | Caudal duplication | -| GARD:6007 | Caudal regression syndrome | -| GARD:21862 | Caudal regression-sirenomelia spectrum | -| GARD:20066 | Cavitary myiasis | -| GARD:12308 | Celiac artery compression syndrome | -| GARD:2166 | Celiac disease-epilepsy-cerebral calcification syndrome | -| GARD:5084 | Cenani-Lenz syndrome | -| GARD:10049 | Central areolar choroidal dystrophy | -| GARD:16881 | Central cloudy dystrophy of François | -| GARD:12280 | Central congenital hypothyroidism | -| GARD:6014 | Central core disease | -| GARD:6015 | Central diabetes insipidus | -| GARD:18789 | Central nervous system calcification-deafness-tubular acidosis-anemia syndrome | -| GARD:20988 | Central nervous system cystic malformation | -| GARD:20718 | Central nervous system embryonal tumor | -| GARD:19394 | Central nervous system malformation | -| GARD:10641 | Central neurocytoma | -| GARD:21200 | Central polydactyly | -| GARD:16546 | Central precocious puberty | -| GARD:21734 | Central retinal vein occlusion | -| GARD:200 | Central serous chorioretinopathy | -| GARD:19125 | Centrifugal lipodystrophy | -| GARD:101 | Centronuclear myopathy | -| GARD:20967 | Cephalocele | -| GARD:15384 | Cerebellar ataxia and hypergonadotropic hypogonadism | -| GARD:17937 | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | -| GARD:20385 | Cerebellar ataxia with peripheral neuropathy | -| GARD:16836 | Cerebellar ataxia, Cayman type | -| GARD:15473 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | -| GARD:15634 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 | -| GARD:15930 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | -| GARD:1188 | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | -| GARD:1189 | Cerebellar ataxia-ectodermal dysplasia syndrome | -| GARD:3314 | Cerebellar ataxia-hypogonadism syndrome | -| GARD:18020 | Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | -| GARD:1196 | Cerebellar hypoplasia-tapetoretinal degeneration syndrome | -| GARD:10642 | Cerebellar liponeurocytoma | -| GARD:20238 | Cerebellar malformation | -| GARD:17761 | Cerebellar-facial-dental syndrome | -| GARD:3020 | Cerebral arteriovenous malformation | -| GARD:1049 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | -| GARD:10424 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | -| GARD:18313 | Cerebral cavernous malformations 2 | -| GARD:18314 | Cerebral cavernous malformations 3 | -| GARD:20982 | Cerebral cortical dysplasia | -| GARD:20091 | Cerebral diseases of vascular origin with epilepsy | -| GARD:19491 | Cerebral lipidosis with dementia | -| GARD:20088 | Cerebral malformation with epilepsy | -| GARD:18945 | Cerebral organic aciduria | -| GARD:18309 | Cerebral palsy, spastic quadriplegic, 2 | -| GARD:18310 | Cerebral palsy, spastic quadriplegic, 3 | -| GARD:21485 | Cerebral sinovenous thrombosis | -| GARD:21871 | Cerebral visual impairment | -| GARD:6026 | Cerebrocostomandibular syndrome | -| GARD:12662 | Cerebrofacial arteriovenous metameric syndrome | -| GARD:19959 | Cerebrofacial arteriovenous metameric syndrome type 1 | -| GARD:19960 | Cerebrofacial arteriovenous metameric syndrome type 3 | -| GARD:5456 | Cerebrofacioarticular syndrome | -| GARD:1210 | Cerebrofaciothoracic dysplasia | -| GARD:15150 | Cerebrooculofacioskeletal syndrome 1 | -| GARD:15497 | Cerebrooculofacioskeletal syndrome 2 | -| GARD:16140 | Cerebrooculofacioskeletal syndrome 3 | -| GARD:15498 | Cerebrooculofacioskeletal syndrome 4 | -| GARD:3480 | Cerebrooculonasal syndrome | -| GARD:15458 | Cerebrorenodigital syndrome with limb malformations and triradiate acetabula | -| GARD:18441 | Cerebroretinal microangiopathy with calcifications and cysts 1 | -| GARD:18442 | Cerebroretinal microangiopathy with calcifications and cysts 2 | -| GARD:5622 | Cerebrotendinous xanthomatosis | -| GARD:17045 | Cernunnos-XLF deficiency | -| GARD:9508 | Cerulean cataract | -| GARD:19639 | Cervical aortic arch | -| GARD:19937 | Cervical dermoid cyst | -| GARD:1226 | Cervical hypertrichosis-peripheral neuropathy syndrome | -| GARD:20955 | Cervical spina bifida aperta | -| GARD:20962 | Cervical spina bifida cystica | -| GARD:19941 | Cervicofacial fibrochondroma | -| GARD:20956 | Cervicothoracic spina bifida aperta | -| GARD:20963 | Cervicothoracic spina bifida cystica | -| GARD:6033 | Chandler syndrome | -| GARD:20242 | Channelopathy with epilepsy | -| GARD:21415 | Chapare hemorrhagic fever | -| GARD:1237 | Char syndrome | -| GARD:12433 | Charcot-Marie-Tooth disease type 1 | -| GARD:1245 | Charcot-Marie-Tooth disease type 1A | -| GARD:1246 | Charcot-Marie-Tooth disease type 1B | -| GARD:1247 | Charcot-Marie-Tooth disease type 1C | -| GARD:9189 | Charcot-Marie-Tooth disease type 1D | -| GARD:9190 | Charcot-Marie-Tooth disease type 1E | -| GARD:9191 | Charcot-Marie-Tooth disease type 1F | -| GARD:8548 | Charcot-Marie-Tooth disease type 2B1 | -| GARD:1249 | Charcot-Marie-Tooth disease type 2B2 | -| GARD:17153 | Charcot-Marie-Tooth disease type 2B5 | -| GARD:9196 | Charcot-Marie-Tooth disease type 2H | -| GARD:12435 | Charcot-Marie-Tooth disease type 2P | -| GARD:12451 | Charcot-Marie-Tooth disease type 2R | -| GARD:17751 | Charcot-Marie-Tooth disease type 2S | -| GARD:17909 | Charcot-Marie-Tooth disease type 2T | -| GARD:12440 | Charcot-Marie-Tooth disease type 4 | -| GARD:1252 | Charcot-Marie-Tooth disease type 4A | -| GARD:1253 | Charcot-Marie-Tooth disease type 4B1 | -| GARD:9200 | Charcot-Marie-Tooth disease type 4B2 | -| GARD:17578 | Charcot-Marie-Tooth disease type 4B3 | -| GARD:9201 | Charcot-Marie-Tooth disease type 4C | -| GARD:3973 | Charcot-Marie-Tooth disease type 4D | -| GARD:9203 | Charcot-Marie-Tooth disease type 4E | -| GARD:12441 | Charcot-Marie-Tooth disease type 4F | -| GARD:10132 | Charcot-Marie-Tooth disease type 4G | -| GARD:12442 | Charcot-Marie-Tooth disease type 4H | -| GARD:12443 | Charcot-Marie-Tooth disease type 4J | -| GARD:16786 | Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome | -| GARD:6034 | Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy | -| GARD:1261 | Charlie M syndrome | -| GARD:412 | Cheilitis glandularis | -| GARD:19682 | Cheirospondyloenchondromatosis | -| GARD:6036 | Cherubism | -| GARD:6038 | Chikungunya | -| GARD:19130 | Chilblain lupus | -| GARD:18493 | Chilblain lupus 1 | -| GARD:18494 | Chilblain lupus 2 | -| GARD:16667 | Childhood absence epilepsy | -| GARD:6040 | Childhood disintegrative disorder | -| GARD:13571 | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | -| GARD:22362 | Childhood-onset Steinert myotonic dystrophy | -| GARD:17568 | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | -| GARD:12232 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | -| GARD:17918 | Childhood-onset basal ganglia degeneration syndrome | -| GARD:17906 | Childhood-onset benign chorea with striatal involvement | -| GARD:19437 | Childhood-onset epilepsy syndrome | -| GARD:8735 | Childhood-onset hypophosphatasia | -| GARD:13658 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | -| GARD:7171 | Childhood-onset nemaline myopathy | -| GARD:21942 | Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome | -| GARD:12681 | Childhood-onset spasticity with hyperglycinemia | -| GARD:16951 | Choanal atresia | -| GARD:19890 | Choanal atresia, bilateral | -| GARD:19889 | Choanal atresia, unilateral | -| GARD:22366 | Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | -| GARD:9304 | Cholangiocarcinoma | -| GARD:15992 | Cholangiocarcinoma, susceptibility to | -| GARD:21973 | Choledochal cyst | -| GARD:6043 | Cholera | -| GARD:15888 | Cholestasis, intrahepatic, of pregnancy 3 | -| GARD:15079 | Cholestasis, intrahepatic, of pregnancy, 1 | -| GARD:18621 | Cholestasis, progressive familial intrahepatic, 4 | -| GARD:370 | Cholestasis-lymphedema syndrome | -| GARD:9280 | Cholestasis-pigmentary retinopathy-cleft palate syndrome | -| GARD:16724 | Cholesterol-ester transfer protein deficiency | -| GARD:12099 | Cholesteryl ester storage disease | -| GARD:6048 | Chondrocalcinosis 1 | -| GARD:8542 | Chondrodysplasia punctata | -| GARD:16716 | Chondrodysplasia punctata, Toriello type | -| GARD:15347 | Chondrodysplasia punctata, brachytelephalangic, autosomal | -| GARD:16715 | Chondrodysplasia punctata, tibial-metacarpal type | -| GARD:11009 | Chondrodysplasia with joint dislocations, gPAPP type | -| GARD:16565 | Chondrodysplasia-disorder of sex development syndrome | -| GARD:21408 | Chondroectodermal dysplasia with night blindness | -| GARD:21720 | Chondromyxoid fibroma | -| GARD:6055 | Chondrosarcoma | -| GARD:20715 | Chordoid glioma | -| GARD:1303 | Chordoma | -| GARD:15152 | Chorea, benign familial | -| GARD:3956 | Choreoacanthocytosis | -| GARD:20734 | Choriocarcinoma of the central nervous system | -| GARD:8238 | Choroid plexus carcinoma | -| GARD:20722 | Choroid plexus tumor | -| GARD:3704 | Choroidal atrophy-alopecia syndrome | -| GARD:15615 | Choroidal dystrophy, central areolar 2 | -| GARD:15623 | Choroidal dystrophy, central areolar, 3 | -| GARD:6061 | Choroideremia | -| GARD:10572 | Christianson syndrome | -| GARD:1319 | Chromomycosis | -| GARD:6064 | Chromophobe renal cell carcinoma | -| GARD:19528 | Chromosomal anomaly with cataract | -| GARD:20085 | Chromosomal anomaly with epilepsy as a major feature | -| GARD:19214 | Chromosomal disease with overgrowth | -| GARD:15572 | Chromosome 17p13.3, telomeric, duplication syndrome | -| GARD:16461 | Chromosome 20q11-q12 deletion syndrome | -| GARD:15688 | Chromosome 2q31.1 duplication syndrome | -| GARD:15589 | Chromosome 5q14.3 deletion syndrome, distal | -| GARD:19430 | Chromosome X structural anomaly | -| GARD:19429 | Chromosome Y structural anomaly | -| GARD:22683 | Chromosome xp11.22 duplication syndrome | -| GARD:18433 | Chromosome xq26.3 duplication syndrome | -| GARD:15266 | Chromosome xq28 duplication syndrome | -| GARD:9534 | Chronic Epstein-Barr virus infection syndrome | -| GARD:20409 | Chronic acquired demyelinating polyneuropathy | -| GARD:21506 | Chronic actinic dermatitis | -| GARD:12281 | Chronic atrial and intestinal dysrhythmia syndrome | -| GARD:867 | Chronic beryllium disease | -| GARD:22198 | Chronic bilirubin encephalopathy | -| GARD:20043 | Chronic cutaneous lupus erythematosus | -| GARD:19838 | Chronic diarrhea due to glucoamylase deficiency | -| GARD:16576 | Chronic diarrhea with villous atrophy | -| GARD:19434 | Chronic encephalitis | -| GARD:21060 | Chronic endophthalmitis | -| GARD:21946 | Chronic enteropathy associated with SLCO2A1 gene | -| GARD:20104 | Chronic eosinophilic leukemia | -| GARD:10964 | Chronic graft versus host disease | -| GARD:6100 | Chronic granulomatous disease | -| GARD:19256 | Chronic hepatic porphyria | -| GARD:6657 | Chronic hiccup | -| GARD:17417 | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity | -| GARD:6102 | Chronic inflammatory demyelinating polyneuropathy | -| GARD:22443 | Chronic intervillositis of unknown etiology | -| GARD:21178 | Chronic intestinal failure | -| GARD:12744 | Chronic intestinal pseudoobstruction | -| GARD:22072 | Chronic lymphoproliferative disorder of natural killer cells | -| GARD:22277 | Chronic mast cell leukemia | -| GARD:1077 | Chronic mucocutaneous candidiasis | -| GARD:6105 | Chronic myeloid leukemia | -| GARD:8225 | Chronic myelomonocytic leukemia | -| GARD:16764 | Chronic myeloproliferative disease, unclassifiable | -| GARD:22456 | Chronic neurovisceral acid sphingomyelinase deficiency | -| GARD:10585 | Chronic neutrophilic leukemia | -| GARD:6108 | Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis | -| GARD:19166 | Chronic pneumonitis of infancy | -| GARD:20410 | Chronic polyradiculoneuropathy | -| GARD:19803 | Chronic primary adrenal insufficiency | -| GARD:22038 | Chronic relapsing inflammatory optic neuropathy | -| GARD:17127 | Chronic respiratory distress with surfactant metabolism deficiency | -| GARD:13124 | Chronic thromboembolic pulmonary hypertension | -| GARD:10729 | Chronic visceral acid sphingomyelinase deficiency | -| GARD:86 | Chudley-McCullough syndrome | -| GARD:17176 | Chuvash erythrocytosis | -| GARD:9683 | Chylomicron retention disease | -| GARD:1359 | Chylous ascites | -| GARD:6035 | Chédiak-Higashi syndrome | -| GARD:1360 | Ciliary discoordination due to random ciliary orientation | -| GARD:2981 | Ciliary dyskinesia with defective radial spokes | -| GARD:2982 | Ciliary dyskinesia with excessively long cilia | -| GARD:1361 | Ciliary dyskinesia with transposition of ciliary microtubules | -| GARD:15560 | Ciliary dyskinesia, primary, 10 | -| GARD:15574 | Ciliary dyskinesia, primary, 11 | -| GARD:15575 | Ciliary dyskinesia, primary, 12 | -| GARD:15628 | Ciliary dyskinesia, primary, 13 | -| GARD:15713 | Ciliary dyskinesia, primary, 14 | -| GARD:15714 | Ciliary dyskinesia, primary, 15 | -| GARD:15743 | Ciliary dyskinesia, primary, 16 | -| GARD:15835 | Ciliary dyskinesia, primary, 17 | -| GARD:15868 | Ciliary dyskinesia, primary, 18 | -| GARD:15883 | Ciliary dyskinesia, primary, 19 | -| GARD:15400 | Ciliary dyskinesia, primary, 2 | -| GARD:15902 | Ciliary dyskinesia, primary, 20 | -| GARD:15940 | Ciliary dyskinesia, primary, 21 | -| GARD:15968 | Ciliary dyskinesia, primary, 22 | -| GARD:15969 | Ciliary dyskinesia, primary, 23 | -| GARD:15971 | Ciliary dyskinesia, primary, 24 | -| GARD:15972 | Ciliary dyskinesia, primary, 25 | -| GARD:15974 | Ciliary dyskinesia, primary, 26 | -| GARD:15976 | Ciliary dyskinesia, primary, 27 | -| GARD:15977 | Ciliary dyskinesia, primary, 28 | -| GARD:16025 | Ciliary dyskinesia, primary, 29 | -| GARD:15436 | Ciliary dyskinesia, primary, 3 | -| GARD:16052 | Ciliary dyskinesia, primary, 30 | -| GARD:16122 | Ciliary dyskinesia, primary, 32 | -| GARD:16154 | Ciliary dyskinesia, primary, 33 | -| GARD:16187 | Ciliary dyskinesia, primary, 34 | -| GARD:16188 | Ciliary dyskinesia, primary, 35 | -| GARD:15280 | Ciliary dyskinesia, primary, 36, x-linked | -| GARD:16239 | Ciliary dyskinesia, primary, 37 | -| GARD:16288 | Ciliary dyskinesia, primary, 38 | -| GARD:15437 | Ciliary dyskinesia, primary, 4 | -| GARD:16353 | Ciliary dyskinesia, primary, 41 | -| GARD:16373 | Ciliary dyskinesia, primary, 42 | -| GARD:16380 | Ciliary dyskinesia, primary, 44 | -| GARD:16383 | Ciliary dyskinesia, primary, 45 | -| GARD:15438 | Ciliary dyskinesia, primary, 5 | -| GARD:15502 | Ciliary dyskinesia, primary, 6 | -| GARD:15533 | Ciliary dyskinesia, primary, 7 | -| GARD:15546 | Ciliary dyskinesia, primary, 8 | -| GARD:15558 | Ciliary dyskinesia, primary, 9 | -| GARD:16822 | Ciliopathies with major skeletal involvement | -| GARD:21544 | Ciliopathy | -| GARD:18898 | Circumscribed palmoplantar hypokeratosis | -| GARD:10706 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | -| GARD:18852 | Cirrhotic cardiomyopathy | -| GARD:20661 | Citrin deficiency | -| GARD:16522 | Citrullinemia | -| GARD:6114 | Citrullinemia type I | -| GARD:10215 | Citrullinemia type II | -| GARD:9994 | Clark-Baraitser syndrome | -| GARD:6520 | Class I glucose-6-phosphate dehydrogenase deficiency | -| GARD:16529 | Classic Hodgkin lymphoma | -| GARD:19594 | Classic Hodgkin lymphoma, lymphocyte-depleted type | -| GARD:19593 | Classic Hodgkin lymphoma, lymphocyte-rich type | -| GARD:19592 | Classic Hodgkin lymphoma, mixed cellularity type | -| GARD:19591 | Classic Hodgkin lymphoma, nodular sclerosis type | -| GARD:12665 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | -| GARD:21398 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form | -| GARD:21399 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form | -| GARD:21473 | Classic congenital lipoid adrenal hyperplasia due to STAR deficency | -| GARD:22452 | Classic eosinophilic pustular folliculitis | -| GARD:13639 | Classic galactosemia | -| GARD:9265 | Classic glucose transporter type 1 deficiency syndrome | -| GARD:6560 | Classic hairy cell leukemia | -| GARD:6667 | Classic homocystinuria | -| GARD:5049 | Classic lissencephaly | -| GARD:17263 | Classic maple syrup urine disease | -| GARD:17216 | Classic medulloblastoma | -| GARD:13661 | Classic multiminicore myopathy | -| GARD:3863 | Classic mycosis fungoides | -| GARD:21500 | Classic neuroendocrine tumor of appendix | -| GARD:18947 | Classic organic aciduria | -| GARD:17114 | Classic pantothenate kinase-associated neurodegeneration | -| GARD:18982 | Classic phenylketonuria | -| GARD:17182 | Classic progressive supranuclear palsy syndrome | -| GARD:22220 | Classic pyoderma gangrenosum | -| GARD:17754 | Classic stiff person syndrome | -| GARD:2088 | Classical Ehlers-Danlos syndrome | -| GARD:8507 | Classical-like Ehlers-Danlos syndrome type 1 | -| GARD:17975 | Classical-like Ehlers-Danlos syndrome type 2 | -| GARD:21652 | Clear cell adenocarcinoma of the ovary | -| GARD:21721 | Clear cell papillary renal cell carcinoma | -| GARD:9574 | Clear cell renal carcinoma | -| GARD:21905 | Clear cell sarcoma of kidney | -| GARD:19774 | Cleft hard palate | -| GARD:16976 | Cleft lip and alveolus | -| GARD:22068 | Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome | -| GARD:18754 | Cleft lip with or without cleft palate | -| GARD:435 | Cleft lip-retinopathy syndrome | -| GARD:17092 | Cleft lip/palate | -| GARD:18755 | Cleft lip/palate-deafness-sacral lipoma syndrome | -| GARD:375 | Cleft lip/palate-ectodermal dysplasia syndrome | -| GARD:3430 | Cleft lip/palate-intestinal malrotation-cardiopathy syndrome | -| GARD:19267 | Cleft mitral valve | -| GARD:1896 | Cleft palate | -| GARD:162 | Cleft palate-large ears-small head syndrome | -| GARD:1391 | Cleft palate-lateral synechia syndrome | -| GARD:1392 | Cleft palate-short stature-vertebral anomalies syndrome | -| GARD:1393 | Cleft palate-stapes fixation-oligodontia syndrome | -| GARD:18243 | Cleft soft palate | -| GARD:16907 | Cleft velum | -| GARD:6118 | Cleidocranial dysplasia | -| GARD:19206 | Cleidocranial dysplasia and isolated cranial ossification defect | -| GARD:10623 | Cleidocranial dysplasia, recessive form | -| GARD:5532 | Cleidorhizomelic syndrome | -| GARD:19609 | Climatic droplet keratopathy | -| GARD:4080 | Cloacal exstrophy | -| GARD:20950 | Closed iniencephaly | -| GARD:853 | Cloverleaf skull-asphyxiating thoracic dysplasia syndrome | -| GARD:16811 | Cloverleaf skull-multiple congenital anomalies syndrome | -| GARD:15153 | Coach syndrome 1 | -| GARD:16422 | Coach syndrome 2 | -| GARD:16423 | Coach syndrome 3 | -| GARD:6121 | Coats disease | -| GARD:17412 | Coats plus syndrome | -| GARD:3277 | Cobblestone lissencephaly | -| GARD:17526 | Cobblestone lissencephaly without muscular or ocular involvement | -| GARD:1413 | Cocaine embryofetopathy | -| GARD:19115 | Cocaine intoxication | -| GARD:9525 | Coccidioidomycosis | -| GARD:22045 | Cochlear nerve deficiency | -| GARD:9418 | Cochleosaccular degeneration-cataract syndrome | -| GARD:22044 | Cochleovestibular malformation | -| GARD:6122 | Cockayne syndrome | -| GARD:15154 | Cockayne syndrome a | -| GARD:15067 | Cockayne syndrome b | -| GARD:1415 | Cockayne syndrome type 1 | -| GARD:1420 | Cockayne syndrome type 2 | -| GARD:1417 | Cockayne syndrome type 3 | -| GARD:10423 | Coenzyme Q10 deficiency | -| GARD:18378 | Coenzyme q10 deficiency, primary, 1 | -| GARD:18379 | Coenzyme q10 deficiency, primary, 3 | -| GARD:15539 | Coenzyme q10 deficiency, primary, 4 | -| GARD:16403 | Coenzyme q10 deficiency, primary, 9 | -| GARD:6123 | Coffin-Lowry syndrome | -| GARD:6124 | Coffin-Siris syndrome | -| GARD:15072 | Coffin-siris syndrome 1 | -| GARD:16358 | Coffin-siris syndrome 10 | -| GARD:16379 | Coffin-siris syndrome 11 | -| GARD:16443 | Coffin-siris syndrome 12 | -| GARD:15820 | Coffin-siris syndrome 2 | -| GARD:15821 | Coffin-siris syndrome 3 | -| GARD:15822 | Coffin-siris syndrome 4 | -| GARD:16170 | Coffin-siris syndrome 5 | -| GARD:16254 | Coffin-siris syndrome 6 | -| GARD:16287 | Coffin-siris syndrome 7 | -| GARD:16347 | Coffin-siris syndrome 8 | -| GARD:16023 | Coffin-siris syndrome 9 | -| GARD:1421 | Cogan syndrome | -| GARD:6125 | Cogan-Reese syndrome | -| GARD:12845 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | -| GARD:6126 | Cohen syndrome | -| GARD:16235 | Cohen-gibson syndrome | -| GARD:18803 | Colchicine poisoning | -| GARD:6130 | Cold agglutinin disease | -| GARD:16983 | Cold-induced sweating syndrome | -| GARD:21708 | Cold-induced sweating syndrome-hyperthermia spectrum | -| GARD:1425 | Cole-Carpenter syndrome | -| GARD:16077 | Cole-carpenter syndrome 2 | -| GARD:19048 | Collagen type III glomerulopathy | -| GARD:22237 | Collagen-related glomerular basement membrane disease | -| GARD:9573 | Collecting duct carcinoma | -| GARD:16875 | Coloboma of choroid and retina | -| GARD:1433 | Coloboma of eye lens | -| GARD:19605 | Coloboma of eyelid | -| GARD:19978 | Coloboma of inferior eyelid | -| GARD:1434 | Coloboma of iris | -| GARD:1436 | Coloboma of macula | -| GARD:1437 | Coloboma of macula-brachydactyly type B syndrome | -| GARD:1438 | Coloboma of optic disc | -| GARD:19977 | Coloboma of superior eyelid | -| GARD:18021 | Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome | -| GARD:17844 | Colobomatous macrophthalmia-microcornea syndrome | -| GARD:3644 | Colobomatous microphthalmia | -| GARD:17575 | Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome | -| GARD:17707 | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | -| GARD:17719 | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | -| GARD:1446 | Colonic atresia | -| GARD:19537 | Color-vision disease | -| GARD:19042 | Colorado tick fever | -| GARD:15457 | Colorectal cancer, hereditary nonpolyposis, type 2 | -| GARD:15791 | Colorectal cancer, hereditary nonpolyposis, type 4 | -| GARD:15792 | Colorectal cancer, hereditary nonpolyposis, type 5 | -| GARD:15789 | Colorectal cancer, hereditary nonpolyposis, type 6 | -| GARD:15799 | Colorectal cancer, hereditary nonpolyposis, type 7 | -| GARD:15638 | Colorectal cancer, hereditary nonpolyposis, type 8 | -| GARD:18485 | Colorectal cancer, susceptibility to, 10 | -| GARD:18486 | Colorectal cancer, susceptibility to, 12 | -| GARD:19806 | Combined T and B cell immunodeficiency | -| GARD:16639 | Combined deficiency of factor V and factor VIII | -| GARD:22418 | Combined deficiency of factor VII and factor X | -| GARD:19432 | Combined dystonia | -| GARD:21843 | Combined hamartoma of the retina and retinal pigment epithelium | -| GARD:22200 | Combined hepatocellular carcinoma and cholangiocarcinoma | -| GARD:20541 | Combined hyperactive dysfunction syndrome of the cranial nerves | -| GARD:17981 | Combined immunodeficiency due to CARMIL2 deficiency | -| GARD:17174 | Combined immunodeficiency due to CD27 deficiency | -| GARD:17046 | Combined immunodeficiency due to CD3gamma deficiency | -| GARD:17978 | Combined immunodeficiency due to CD70 deficiency | -| GARD:17048 | Combined immunodeficiency due to CRAC channel dysfunction | -| GARD:2816 | Combined immunodeficiency due to DOCK8 deficiency | -| GARD:17941 | Combined immunodeficiency due to GINS1 deficiency | -| GARD:17550 | Combined immunodeficiency due to IL21R deficiency | -| GARD:17979 | Combined immunodeficiency due to ITK deficiency | -| GARD:13565 | Combined immunodeficiency due to LRBA deficiency | -| GARD:17647 | Combined immunodeficiency due to MALT1 deficiency | -| GARD:17939 | Combined immunodeficiency due to Moesin deficiency | -| GARD:10524 | Combined immunodeficiency due to ORAI1 deficiency | -| GARD:17710 | Combined immunodeficiency due to OX40 deficiency | -| GARD:22392 | Combined immunodeficiency due to RELA haploinsufficiency | -| GARD:10523 | Combined immunodeficiency due to STIM1 deficiency | -| GARD:17430 | Combined immunodeficiency due to STK4 deficiency | -| GARD:17849 | Combined immunodeficiency due to TFRC deficiency | -| GARD:387 | Combined immunodeficiency due to ZAP70 deficiency | -| GARD:13712 | Combined immunodeficiency due to partial RAG1 deficiency | -| GARD:17139 | Combined immunodeficiency with faciooculoskeletal anomalies | -| GARD:13587 | Combined immunodeficiency with granulomatosis | -| GARD:17731 | Combined immunodeficiency-enteropathy spectrum | -| GARD:10818 | Combined malonic and methylmalonic acidemia | -| GARD:18316 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | -| GARD:18317 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | -| GARD:17487 | Combined oxidative phosphorylation defect type 11 | -| GARD:17454 | Combined oxidative phosphorylation defect type 13 | -| GARD:17455 | Combined oxidative phosphorylation defect type 14 | -| GARD:17456 | Combined oxidative phosphorylation defect type 15 | -| GARD:17589 | Combined oxidative phosphorylation defect type 17 | -| GARD:17232 | Combined oxidative phosphorylation defect type 2 | -| GARD:17699 | Combined oxidative phosphorylation defect type 20 | -| GARD:17700 | Combined oxidative phosphorylation defect type 21 | -| GARD:17759 | Combined oxidative phosphorylation defect type 23 | -| GARD:17765 | Combined oxidative phosphorylation defect type 24 | -| GARD:17775 | Combined oxidative phosphorylation defect type 25 | -| GARD:17854 | Combined oxidative phosphorylation defect type 26 | -| GARD:17856 | Combined oxidative phosphorylation defect type 27 | -| GARD:17863 | Combined oxidative phosphorylation defect type 29 | -| GARD:17864 | Combined oxidative phosphorylation defect type 30 | -| GARD:17999 | Combined oxidative phosphorylation defect type 39 | -| GARD:17233 | Combined oxidative phosphorylation defect type 4 | -| GARD:17234 | Combined oxidative phosphorylation defect type 7 | -| GARD:17452 | Combined oxidative phosphorylation defect type 8 | -| GARD:17453 | Combined oxidative phosphorylation defect type 9 | -| GARD:18466 | Combined oxidative phosphorylation deficiency 19 | -| GARD:17403 | Combined pancreatic lipase-colipase deficiency | -| GARD:10602 | Combined pituitary hormone deficiencies, genetic forms | -| GARD:21238 | Combined pulmonary fibrosis-emphysema syndrome | -| GARD:19939 | Commissural lip fistula | -| GARD:21915 | Common cystic lymphatic malformation | -| GARD:6140 | Common variable immunodeficiency | -| GARD:21092 | Communicating congenital bronchopulmonary-foregut malformation | -| GARD:1452 | Complement component 2 deficiency | -| GARD:16489 | Complement component 3 deficiency | -| GARD:15798 | Complement component 4a deficiency | -| GARD:15797 | Complement component 4b deficiency | -| GARD:2191 | Complement component 5 deficiency | -| GARD:18291 | Complement component 6 deficiency | -| GARD:18290 | Complement component 7 deficiency | -| GARD:10626 | Complement component 8 deficiency, type i | -| GARD:10625 | Complement component 8 deficiency, type ii | -| GARD:18292 | Complement component 9 deficiency | -| GARD:15155 | Complement component c1r/c1s deficiency | -| GARD:15707 | Complement component c1s deficiency | -| GARD:18551 | Complement factor h deficiency | -| GARD:15003 | Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome | -| GARD:10597 | Complete androgen insensitivity syndrome | -| GARD:1454 | Complete atrioventricular septal defect | -| GARD:16893 | Complete atrioventricular septal defect with ventricular hypoplasia | -| GARD:22322 | Complete atrioventricular septal defect without ventricular hypoplasia | -| GARD:16894 | Complete atrioventricular septal defect-tetralogy of Fallot | -| GARD:16876 | Complete cryptophthalmia | -| GARD:22033 | Complete hemimelia | -| GARD:17224 | Complete hydatidiform mole | -| GARD:20181 | Complete septate uterus | -| GARD:20906 | Complex chromosomal rearrangement | -| GARD:19823 | Complex hereditary spastic paraplegia | -| GARD:17807 | Complex lethal osteochondrodysplasia | -| GARD:4647 | Complex regional pain syndrome | -| GARD:16928 | Complex regional pain syndrome type 1 | -| GARD:19727 | Complex regional pain syndrome type 2 | -| GARD:20465 | Complex vascular malformation with associated anomalies | -| GARD:21259 | Complication after organ transplantation | -| GARD:20948 | Complication in hemodialysis | -| GARD:19107 | Complications after hematopoietic stem cell transplantation | -| GARD:21907 | Composite hemangioendothelioma | -| GARD:20109 | Composite lymphoma | -| GARD:1460 | Conductive deafness-malformed external ear syndrome | -| GARD:305 | Conductive deafness-ptosis-skeletal anomalies syndrome | -| GARD:15342 | Cone dystrophy 3 | -| GARD:16449 | Cone dystrophy 4 | -| GARD:10649 | Cone dystrophy with supernormal rod response | -| GARD:10119 | Cone dystrophy, x-linked, with tapetal-like sheen | -| GARD:10790 | Cone rod dystrophy | -| GARD:10651 | Cone-rod dystrophy 1 | -| GARD:15477 | Cone-rod dystrophy 10 | -| GARD:15484 | Cone-rod dystrophy 11 | -| GARD:15577 | Cone-rod dystrophy 12 | -| GARD:15426 | Cone-rod dystrophy 13 | -| GARD:15686 | Cone-rod dystrophy 15 | -| GARD:15812 | Cone-rod dystrophy 16 | -| GARD:15914 | Cone-rod dystrophy 17 | -| GARD:15953 | Cone-rod dystrophy 18 | -| GARD:16022 | Cone-rod dystrophy 19 | -| GARD:6145 | Cone-rod dystrophy 2 | -| GARD:16036 | Cone-rod dystrophy 20 | -| GARD:16125 | Cone-rod dystrophy 21 | -| GARD:10653 | Cone-rod dystrophy 3 | -| GARD:10655 | Cone-rod dystrophy 5 | -| GARD:10656 | Cone-rod dystrophy 6 | -| GARD:15356 | Cone-rod dystrophy 7 | -| GARD:15381 | Cone-rod dystrophy 8 | -| GARD:15582 | Cone-rod dystrophy 9 | -| GARD:10652 | Cone-rod dystrophy, x-linked, 1 | -| GARD:1462 | Cone-rod dystrophy, x-linked, 2 | -| GARD:10654 | Cone-rod dystrophy, x-linked, 3 | -| GARD:15485 | Cone-rod synaptic disorder, congenital nonprogressive | -| GARD:20544 | Confetti-like macular atrophy | -| GARD:18903 | Congenital Epstein-Barr virus infection | -| GARD:19647 | Congenital Gerbode defect | -| GARD:6670 | Congenital Horner syndrome | -| GARD:21837 | Congenital abducens nerve palsy | -| GARD:21194 | Congenital absence of both forearm and hand | -| GARD:21195 | Congenital absence of both lower leg and foot | -| GARD:21193 | Congenital absence of thigh and lower leg with foot present | -| GARD:12123 | Congenital absence of upper arm and forearm with hand present | -| GARD:377 | Congenital absence/hypoplasia of fingers excluding thumb, unilateral | -| GARD:21438 | Congenital achiasma | -| GARD:1467 | Congenital adrenal hyperplasia | -| GARD:5658 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | -| GARD:1469 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | -| GARD:9152 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | -| GARD:12664 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | -| GARD:22011 | Congenital agenesis of the scrotum | -| GARD:19510 | Congenital alacrima | -| GARD:731 | Congenital alpha2-antiplasmin deficiency | -| GARD:8644 | Congenital alveolar capillary dysplasia | -| GARD:640 | Congenital amegakaryocytic thrombocytopenia | -| GARD:22002 | Congenital amyoplasia | -| GARD:13056 | Congenital analbuminemia | -| GARD:19282 | Congenital anomaly of hepatic vein | -| GARD:19275 | Congenital anomaly of superior vena cava | -| GARD:19277 | Congenital anomaly of the coronary sinus | -| GARD:19556 | Congenital anomaly of the great arteries | -| GARD:21541 | Congenital anomaly of the great veins | -| GARD:19276 | Congenital anomaly of the inferior vena cava | -| GARD:19623 | Congenital anomaly of the tricuspid valve chordae | -| GARD:19260 | Congenital aortic valve atresia | -| GARD:19776 | Congenital aortic valve dysplasia | -| GARD:18786 | Congenital aortic valve stenosis | -| GARD:738 | Congenital aortopulmonary window | -| GARD:22453 | Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome | -| GARD:19560 | Congenital arteriovenous fistula | -| GARD:9595 | Congenital atransferrinemia | -| GARD:22274 | Congenital autosomal recessive small-platelet thrombocytopenia | -| GARD:22218 | Congenital axonal neuropathy with encephalopathy | -| GARD:5461 | Congenital bilateral absence of vas deferens | -| GARD:19180 | Congenital bilateral megacalycosis | -| GARD:21996 | Congenital bile acid synthesis defect | -| GARD:9813 | Congenital bile acid synthesis defect type 1 | -| GARD:10045 | Congenital bile acid synthesis defect type 2 | -| GARD:16713 | Congenital bile acid synthesis defect type 3 | -| GARD:10046 | Congenital bile acid synthesis defect type 4 | -| GARD:953 | Congenital bowing of long bones | -| GARD:22076 | Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome | -| GARD:9848 | Congenital brain dysgenesis due to glutamine synthetase deficiency | -| GARD:17327 | Congenital cataract microcornea with corneal opacity | -| GARD:17365 | Congenital cataract-hearing loss-severe developmental delay syndrome | -| GARD:1142 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | -| GARD:10522 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | -| GARD:22144 | Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome | -| GARD:16645 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | -| GARD:8535 | Congenital central hypoventilation syndrome | -| GARD:22075 | Congenital cerebellar ataxia due to RNU12 mutation | -| GARD:18706 | Congenital cervical spinal stenosis | -| GARD:10001 | Congenital chloride diarrhea | -| GARD:17500 | Congenital chronic diarrhea with protein-losing enteropathy | -| GARD:10156 | Congenital chylothorax | -| GARD:20998 | Congenital communicating hydrocephalus | -| GARD:19666 | Congenital complete agenesis of pericardium | -| GARD:5899 | Congenital contractural arachnodactyly | -| GARD:18622 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | -| GARD:16657 | Congenital cornea plana | -| GARD:19273 | Congenital coronary artery aneurysm | -| GARD:10617 | Congenital cystic eye | -| GARD:17040 | Congenital deficiency in alpha-fetoprotein | -| GARD:21182 | Congenital deformities of fingers | -| GARD:21181 | Congenital deformities of limbs | -| GARD:1481 | Congenital diaphragmatic hernia | -| GARD:10307 | Congenital disorder of glycosylation | -| GARD:21607 | Congenital disorder of glycosylation with cardiac malformation as a major feature | -| GARD:21612 | Congenital disorder of glycosylation with deafness as a major feature | -| GARD:12782 | Congenital disorder of glycosylation with developmental anomaly | -| GARD:21606 | Congenital disorder of glycosylation with dilated cardiomyopathy | -| GARD:21604 | Congenital disorder of glycosylation with epilepsy as a major feature | -| GARD:21605 | Congenital disorder of glycosylation with hepatic involvement | -| GARD:21608 | Congenital disorder of glycosylation with intestinal involvement | -| GARD:21611 | Congenital disorder of glycosylation with nephropathy as a major feature | -| GARD:21603 | Congenital disorder of glycosylation with neurological involvement | -| GARD:21610 | Congenital disorder of glycosylation with skin involvement | -| GARD:21609 | Congenital disorder of glycosylation-related bone disorder | -| GARD:1999 | Congenital dyserythropoietic anemia | -| GARD:2000 | Congenital dyserythropoietic anemia type I | -| GARD:2001 | Congenital dyserythropoietic anemia type II | -| GARD:2002 | Congenital dyserythropoietic anemia type III | -| GARD:17344 | Congenital dyserythropoietic anemia type IV | -| GARD:19502 | Congenital ectropion | -| GARD:19169 | Congenital ectropion uveae | -| GARD:21224 | Congenital elbow dislocation, bilateral | -| GARD:21223 | Congenital elbow dislocation, unilateral | -| GARD:19839 | Congenital enterocyte heparan sulfate deficiency | -| GARD:17038 | Congenital enteropathy due to enteropeptidase deficiency | -| GARD:19845 | Congenital enteropathy involving intestinal mucosa development | -| GARD:2130 | Congenital enterovirus infection | -| GARD:20016 | Congenital epulis | -| GARD:20619 | Congenital erosive and vesicular dermatosis | -| GARD:4446 | Congenital erythropoietic porphyria | -| GARD:19165 | Congenital esophageal diverticulum | -| GARD:19675 | Congenital eyelid retraction | -| GARD:2926 | Congenital factor II deficiency | -| GARD:2237 | Congenital factor V deficiency | -| GARD:2238 | Congenital factor VII deficiency | -| GARD:6404 | Congenital factor X deficiency | -| GARD:9670 | Congenital factor XI deficiency | -| GARD:6558 | Congenital factor XII deficiency | -| GARD:10766 | Congenital factor XIII deficiency | -| GARD:6161 | Congenital fiber-type disproportion myopathy | -| GARD:2320 | Congenital fibrinogen deficiency | -| GARD:12590 | Congenital fibrosis of extraocular muscles | -| GARD:21956 | Congenital generalized hypercontractile muscle stiffness syndrome | -| GARD:8206 | Congenital generalized hypertrichosis, Ambras type | -| GARD:13388 | Congenital generalized lipodystrophy | -| GARD:21226 | Congenital genu flexum | -| GARD:21225 | Congenital genu recurvatum | -| GARD:2485 | Congenital glaucoma | -| GARD:6164 | Congenital heart block | -| GARD:4905 | Congenital heart defect-round face-developmental delay syndrome | -| GARD:21910 | Congenital hemangioma | -| GARD:19610 | Congenital hereditary endothelial dystrophy type I | -| GARD:6196 | Congenital hereditary endothelial dystrophy type II | -| GARD:17379 | Congenital hereditary facial paralysis-variable hearing loss syndrome | -| GARD:18687 | Congenital herpes simplex virus infection | -| GARD:2684 | Congenital high-molecular-weight kininogen deficiency | -| GARD:6682 | Congenital hydrocephalus | -| GARD:20135 | Congenital hypogonadotropic hypogonadism | -| GARD:21198 | Congenital hypoplasia of thumb | -| GARD:1487 | Congenital hypothyroidism | -| GARD:19295 | Congenital hypothyroidism due to developmental anomaly | -| GARD:20563 | Congenital hypothyroidism due to maternal intake of antithyroid drugs | -| GARD:19297 | Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies | -| GARD:17515 | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | -| GARD:1489 | Congenital ichthyosis-microcephalus-tetraplegia syndrome | -| GARD:22333 | Congenital infiltrating lipomatosis of the face | -| GARD:21890 | Congenital insensitivity to pain with severe intellectual disability | -| GARD:12267 | Congenital insensitivity to pain-anosmia-neuropathic arthropathy | -| GARD:20514 | Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation | -| GARD:19844 | Congenital intestinal disease due to an enzymatic defect | -| GARD:19841 | Congenital intestinal transport defect | -| GARD:12426 | Congenital intrauterine infection-like syndrome | -| GARD:3024 | Congenital intrinsic factor deficiency | -| GARD:5727 | Congenital isolated ACTH deficiency | -| GARD:3947 | Congenital isolated hyperinsulinism | -| GARD:21184 | Congenital joint dislocations | -| GARD:21211 | Congenital knee dislocation | -| GARD:22010 | Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome | -| GARD:12311 | Congenital lactase deficiency | -| GARD:8370 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | -| GARD:19953 | Congenital laryngeal cyst | -| GARD:12713 | Congenital laryngeal palsy | -| GARD:16596 | Congenital laryngeal web | -| GARD:6865 | Congenital laryngomalacia | -| GARD:2305 | Congenital left ventricular aneurysm | -| GARD:2192 | Congenital lethal erythroderma | -| GARD:17111 | Congenital lethal myopathy, Compton-North type | -| GARD:18886 | Congenital limb malformation | -| GARD:16075 | Congenital limbs-face contractures-hypotonia-developmental delay syndrome | -| GARD:1465 | Congenital lipoid adrenal hyperplasia due to STAR deficency | -| GARD:2104 | Congenital lobar emphysema | -| GARD:16599 | Congenital macroglossia | -| GARD:19522 | Congenital malformation of the eye with glaucoma as a major feature | -| GARD:19496 | Congenital malformation of the eyelid | -| GARD:19174 | Congenital megacalycosis | -| GARD:18896 | Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization | -| GARD:1493 | Congenital mesoblastic nephroma | -| GARD:17617 | Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome | -| GARD:3635 | Congenital microcoria | -| GARD:20330 | Congenital microgastria | -| GARD:1495 | Congenital mitral malformation | -| GARD:1496 | Congenital mitral stenosis | -| GARD:19266 | Congenital mitral valve insufficiency and/or stenosis | -| GARD:10316 | Congenital multicore myopathy with external ophthalmoplegia | -| GARD:12588 | Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | -| GARD:9138 | Congenital muscular dystrophy | -| GARD:12585 | Congenital muscular dystrophy due to LMNA mutation | -| GARD:12584 | Congenital muscular dystrophy due to dystroglycanopathy | -| GARD:12586 | Congenital muscular dystrophy type 1B | -| GARD:17605 | Congenital muscular dystrophy with cerebellar involvement | -| GARD:21600 | Congenital muscular dystrophy with hyperlaxity | -| GARD:12587 | Congenital muscular dystrophy with integrin alpha-7 deficiency | -| GARD:17606 | Congenital muscular dystrophy with intellectual disability | -| GARD:12416 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | -| GARD:17607 | Congenital muscular dystrophy without intellectual disability | -| GARD:6475 | Congenital muscular dystrophy, Fukuyama type | -| GARD:4769 | Congenital muscular dystrophy, Ullrich type | -| GARD:835 | Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome | -| GARD:17883 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | -| GARD:11902 | Congenital myasthenic syndrome | -| GARD:17539 | Congenital myasthenic syndromes with glycosylation defect | -| GARD:5898 | Congenital myopathy | -| GARD:20134 | Congenital myopathy with cores | -| GARD:16869 | Congenital myopathy with excess of thin filaments | -| GARD:17443 | Congenital myopathy with internal nuclei and atypical cores | -| GARD:21783 | Congenital myopathy with myasthenic-like onset | -| GARD:17989 | Congenital myopathy with reduced type 2 muscle fibers | -| GARD:20335 | Congenital myopathy, Paradas type | -| GARD:20373 | Congenital myotonia | -| GARD:21901 | Congenital nemaline myopathy | -| GARD:1500 | Congenital nephrotic syndrome, Finnish type | -| GARD:17031 | Congenital neuronal ceroid lipofuscinosis | -| GARD:17585 | Congenital neutropenia-myelofibrosis-nephromegaly syndrome | -| GARD:9736 | Congenital non-bullous ichthyosiform erythroderma | -| GARD:17272 | Congenital non-communicating hydrocephalus | -| GARD:21836 | Congenital oculomotor nerve palsy | -| GARD:22112 | Congenital optic disc excavation | -| GARD:22154 | Congenital optic disc excavation of genetic origin | -| GARD:16978 | Congenital or early infantile CACH syndrome | -| GARD:4139 | Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome | -| GARD:21361 | Congenital pancreatic cyst | -| GARD:19912 | Congenital panfollicular nevus | -| GARD:19667 | Congenital partial agenesis of pericardium | -| GARD:19665 | Congenital partial pulmonary venous return anomaly | -| GARD:9692 | Congenital patella dislocation | -| GARD:19634 | Congenital patent ductus arteriosus aneurysm | -| GARD:18779 | Congenital pericardium anomaly | -| GARD:4381 | Congenital plasminogen activator inhibitor type 1 deficiency | -| GARD:21979 | Congenital portosystemic shunt | -| GARD:4477 | Congenital prekallikrein deficiency | -| GARD:9952 | Congenital primary aphakia | -| GARD:22307 | Congenital primary lymphedema of Gordon | -| GARD:18769 | Congenital primary lymphedema without systemic or visceral involvement | -| GARD:18700 | Congenital primary megaureter | -| GARD:20642 | Congenital primary megaureter, nonrefluxing and unobstructed form | -| GARD:20640 | Congenital primary megaureter, obstructed form | -| GARD:22236 | Congenital primary megaureter, refluxing and obstructed form | -| GARD:20641 | Congenital primary megaureter, refluxing form | -| GARD:22071 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | -| GARD:16673 | Congenital pseudoarthrosis of the clavicle | -| GARD:21204 | Congenital pseudoarthrosis of the femur | -| GARD:21205 | Congenital pseudoarthrosis of the fibula | -| GARD:20015 | Congenital pseudoarthrosis of the limbs | -| GARD:21206 | Congenital pseudoarthrosis of the radius | -| GARD:21203 | Congenital pseudoarthrosis of the tibia | -| GARD:21207 | Congenital pseudoarthrosis of the ulna | -| GARD:16798 | Congenital ptosis | -| GARD:18772 | Congenital pulmonary airway malformation | -| GARD:21093 | Congenital pulmonary airway malformation type 0 | -| GARD:21094 | Congenital pulmonary airway malformation type 1 | -| GARD:21095 | Congenital pulmonary airway malformation type 2 | -| GARD:21096 | Congenital pulmonary airway malformation type 3 | -| GARD:21097 | Congenital pulmonary airway malformation type 4 | -| GARD:9900 | Congenital pulmonary lymphangiectasia | -| GARD:4593 | Congenital pulmonary sequestration | -| GARD:16623 | Congenital pulmonary valvar stenosis | -| GARD:19559 | Congenital pulmonary veins anomaly | -| GARD:4598 | Congenital pulmonary veins atresia or stenosis | -| GARD:4599 | Congenital pulmonary venous return anomaly | -| GARD:10876 | Congenital radioulnar synostosis | -| GARD:19381 | Congenital renal artery stenosis | -| GARD:1475 | Congenital respiratory-biliary fistula | -| GARD:17305 | Congenital reticular ichthyosiform erythroderma | -| GARD:21530 | Congenital retinal arteriovenous communication | -| GARD:4744 | Congenital rubella syndrome | -| GARD:20635 | Congenital secondary polycythemia | -| GARD:16592 | Congenital short bowel syndrome | -| GARD:18585 | Congenital short bowel syndrome | -| GARD:19184 | Congenital sialidosis type 2 | -| GARD:17586 | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | -| GARD:20902 | Congenital smooth muscle hamartoma | -| GARD:16945 | Congenital sodium diarrhea | -| GARD:3995 | Congenital stationary night blindness | -| GARD:19663 | Congenital stenosis of the inferior vena cava | -| GARD:16943 | Congenital stromal corneal dystrophy | -| GARD:19952 | Congenital subglottic stenosis | -| GARD:7710 | Congenital sucrase-isomaltase deficiency | -| GARD:19626 | Congenital supravalvular mitral ring | -| GARD:19606 | Congenital symblepharon | -| GARD:22036 | Congenital syphilis | -| GARD:18758 | Congenital systemic arteriovenous fistula | -| GARD:18785 | Congenital systemic veins anomaly | -| GARD:20450 | Congenital temporomandibular joint ankylosis | -| GARD:9430 | Congenital thrombotic thrombocytopenic purpura | -| GARD:19299 | Congenital thyroid malformation without hypothyroidism | -| GARD:16896 | Congenital total pulmonary venous return anomaly | -| GARD:18708 | Congenital toxoplasmosis | -| GARD:12008 | Congenital tracheal stenosis | -| GARD:10515 | Congenital tracheomalacia | -| GARD:19555 | Congenital tricuspid malformation | -| GARD:19262 | Congenital tricuspid stenosis | -| GARD:22241 | Congenital tricuspid valve dysplasia | -| GARD:10034 | Congenital trigeminal anesthesia | -| GARD:19545 | Congenital trochlear nerve palsy | -| GARD:10630 | Congenital tufting enteropathy | -| GARD:19627 | Congenital unguarded mitral orifice | -| GARD:16557 | Congenital unilateral hypoplasia of depressor anguli oris | -| GARD:21814 | Congenital urachal anomaly | -| GARD:45 | Congenital varicella syndrome | -| GARD:20629 | Congenital vascular bone syndrome | -| GARD:5470 | Congenital velopharyngeal incompetence | -| GARD:17961 | Congenital vertebral-cardiac-renal anomalies syndrome | -| GARD:5488 | Congenital vertical talus | -| GARD:21218 | Congenital vertical talus, bilateral | -| GARD:21217 | Congenital vertical talus, unilateral | -| GARD:20121 | Congenital vitamin K-dependent coagulation factors deficiency | -| GARD:22361 | Congenital-onset Steinert myotonic dystrophy | -| GARD:1544 | Congenitally corrected transposition of the great arteries | -| GARD:1551 | Congenitally short costocoracoid ligament | -| GARD:5476 | Congenitally uncorrected transposition of the great arteries | -| GARD:20503 | Congenitally uncorrected transposition of the great arteries with cardiac malformation | -| GARD:19614 | Congenitally uncorrected transposition of the great arteries with coarctation | -| GARD:10744 | Conjunctival malignant melanoma | -| GARD:17362 | Connective tissue disorder due to lysyl hydroxylase-3 deficiency | -| GARD:21750 | Cono-spondylar dysplasia | -| GARD:8189 | Conotruncal heart malformations | -| GARD:19452 | Constitutional anemia due to iron metabolism disorder | -| GARD:20669 | Constitutional deficiency anemia | -| GARD:21172 | Constitutional dyserythropoietic anemia | -| GARD:19457 | Constitutional hemolytic anemia due to acanthocytosis | -| GARD:19463 | Constitutional megaloblastic anemia due to folate metabolism disorder | -| GARD:19462 | Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder | -| GARD:11000 | Constitutional megaloblastic anemia with severe neurologic disease | -| GARD:17217 | Constitutional mismatch repair deficiency syndrome | -| GARD:19809 | Constitutional neutropenia | -| GARD:21508 | Constitutional neutropenia with extra-hematopoietic manifestations | -| GARD:19453 | Constitutional sideroblastic anemia | -| GARD:429 | Constriction rings syndrome | -| GARD:1513 | Continuous spikes and waves during sleep | -| GARD:21816 | Contractures-developmental delay-Pierre Robin syndrome | -| GARD:1515 | Contractures-ectodermal dysplasia-cleft lip/palate syndrome | -| GARD:21364 | Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome | -| GARD:4083 | Cooks syndrome | -| GARD:16567 | Cooper-Jabs syndrome | -| GARD:12483 | Cor triatriatum dexter | -| GARD:12484 | Cor triatriatum sinister | -| GARD:16886 | Coralliform cataract | -| GARD:18049 | Cornea plana 1, autosomal dominant | -| GARD:18050 | Cornea plana 2, autosomal recessive | -| GARD:18810 | Corneal dystrophy | -| GARD:18216 | Corneal dystrophy, fuchs endothelial, 1 | -| GARD:18217 | Corneal dystrophy, fuchs endothelial, 2 | -| GARD:18218 | Corneal dystrophy, fuchs endothelial, 3 | -| GARD:18219 | Corneal dystrophy, fuchs endothelial, 4 | -| GARD:18220 | Corneal dystrophy, fuchs endothelial, 5 | -| GARD:18221 | Corneal dystrophy, fuchs endothelial, 6 | -| GARD:18222 | Corneal dystrophy, fuchs endothelial, 7 | -| GARD:18223 | Corneal dystrophy, fuchs endothelial, 8 | -| GARD:10320 | Corneal dystrophy, lattice type iiia | -| GARD:18212 | Corneal dystrophy, posterior polymorphous, 1 | -| GARD:18213 | Corneal dystrophy, posterior polymorphous, 2 | -| GARD:18214 | Corneal dystrophy, posterior polymorphous, 3 | -| GARD:18215 | Corneal dystrophy, posterior polymorphous, 4 | -| GARD:1529 | Corneal dystrophy-perceptive deafness syndrome | -| GARD:19880 | Corneal endotheliitis | -| GARD:17525 | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | -| GARD:10109 | Cornelia de Lange syndrome | -| GARD:15259 | Cornelia de lange syndrome 2 | -| GARD:15499 | Cornelia de lange syndrome 3 with or without midline brain defects | -| GARD:15837 | Cornelia de lange syndrome 4 with or without midline brain defects | -| GARD:15271 | Cornelia de lange syndrome 5 | -| GARD:1531 | Corneodermatoosseous syndrome | -| GARD:19523 | Corneodysgenesis | -| GARD:1533 | Coronary arterial fistula | -| GARD:1534 | Coronary artery congenital malformation | -| GARD:19643 | Coronary ostial stenosis or atresia | -| GARD:19659 | Coronary sinus atresia | -| GARD:19658 | Coronary sinus stenosis | -| GARD:4528 | Corpus callosum agenesis-abnormal genitalia syndrome | -| GARD:12486 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | -| GARD:21918 | Corpus callosum agenesis-macrocephaly-hypertelorism syndrome | -| GARD:1537 | Corpus callosum agenesis-neuronopathy syndrome | -| GARD:1548 | Cortical blindness-intellectual disability-polydactyly syndrome | -| GARD:13032 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | -| GARD:13168 | Corticobasal syndrome | -| GARD:13101 | Corticosteroid-binding globulin deficiency | -| GARD:10946 | Corticosteroid-sensitive aseptic abscess syndrome | -| GARD:15375 | Cortisone reductase deficiency 1 | -| GARD:15830 | Cortisone reductase deficiency 2 | -| GARD:1550 | Costello syndrome | -| GARD:6202 | Cowden syndrome | -| GARD:16450 | Cowden syndrome 1 | -| GARD:16463 | Cowden syndrome 4 | -| GARD:16464 | Cowden syndrome 5 | -| GARD:16465 | Cowden syndrome 6 | -| GARD:16470 | Cowden syndrome 7 | -| GARD:1558 | Coxoauricular syndrome | -| GARD:3030 | Coxopodopatellar syndrome | -| GARD:6205 | Cramp-fasciculation syndrome | -| GARD:1561 | Crandall syndrome | -| GARD:8428 | Crane-Heise syndrome | -| GARD:19390 | Cranial malformation | -| GARD:20968 | Cranial meningocele | -| GARD:19482 | Cranial nerve and nuclear aplasia | -| GARD:20542 | Cranial neuralgia | -| GARD:17693 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | -| GARD:1564 | Cranio-osteoarthropathy | -| GARD:15156 | Craniodiaphyseal dysplasia | -| GARD:1567 | Craniodiaphyseal dysplasia | -| GARD:249 | Craniodiaphyseal dysplasia, autosomal dominant | -| GARD:4776 | Craniodigital-intellectual disability syndrome | -| GARD:359 | Cranioectodermal dysplasia | -| GARD:15680 | Cranioectodermal dysplasia 2 | -| GARD:15757 | Cranioectodermal dysplasia 3 | -| GARD:15796 | Cranioectodermal dysplasia 4 | -| GARD:19533 | Craniofacial anomaly with cataract | -| GARD:19049 | Craniofacial conodysplasia | -| GARD:17814 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | -| GARD:1571 | Craniofacial-deafness-hand syndrome | -| GARD:17571 | Craniofaciofrontodigital syndrome | -| GARD:1578 | Craniofrontonasal dysplasia | -| GARD:428 | Craniofrontonasal dysplasia-Poland anomaly syndrome | -| GARD:16647 | Craniolenticulosutural dysplasia | -| GARD:16737 | Craniometadiaphyseal dysplasia, wormian bone type | -| GARD:15013 | Craniometaphyseal dysplasia | -| GARD:1581 | Craniometaphyseal dysplasia, autosomal dominant | -| GARD:1582 | Craniometaphyseal dysplasia, autosomal recessive | -| GARD:1583 | Craniomicromelic syndrome | -| GARD:10486 | Craniopharyngioma | -| GARD:10504 | Craniorachischisis | -| GARD:16984 | Craniorhiny | -| GARD:19543 | Craniostenosis with strabismus | -| GARD:6209 | Craniosynostosis | -| GARD:18045 | Craniosynostosis 1 | -| GARD:18047 | Craniosynostosis 3 | -| GARD:18046 | Craniosynostosis 5, susceptibility to | -| GARD:18048 | Craniosynostosis 6 | -| GARD:5538 | Craniosynostosis, Boston type | -| GARD:18762 | Craniosynostosis, Herrmann-Opitz type | -| GARD:1601 | Craniosynostosis, Philadelphia type | -| GARD:998 | Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome | -| GARD:9506 | Craniosynostosis-anal anomalies-porokeratosis syndrome | -| GARD:17309 | Craniosynostosis-dental anomalies | -| GARD:20127 | Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome | -| GARD:16653 | Craniosynostosis-intracranial calcifications syndrome | -| GARD:18001 | Craniosynostosis-microretrognathia-severe intellectual disability syndrome | -| GARD:1605 | Craniotelencephalic dysplasia | -| GARD:18952 | Creatine deficiency syndrome | -| GARD:16919 | Cree leukoencephalopathy | -| GARD:1609 | Creeping myiasis | -| GARD:16526 | Crigler-Najjar syndrome | -| GARD:47 | Crigler-Najjar syndrome type 1 | -| GARD:8683 | Crigler-Najjar syndrome type 2 | -| GARD:19690 | Crimean-Congo hemorrhagic fever | -| GARD:1611 | Crisponi syndrome | -| GARD:18277 | Crisponi/cold-induced sweating syndrome 2 | -| GARD:18724 | Criss-cross heart | -| GARD:4427 | Cronkhite-Canada syndrome | -| GARD:1617 | Crossed polysyndactyly | -| GARD:6206 | Crouzon syndrome | -| GARD:16810 | Crouzon syndrome-acanthosis nigricans syndrome | -| GARD:6386 | Cryoglobulinemic vasculitis | -| GARD:10927 | Cryopyrin-associated periodic syndrome | -| GARD:6218 | Cryptococcosis | -| GARD:20050 | Cryptogenic late-onset epileptic spasms | -| GARD:21945 | Cryptogenic multifocal ulcerous stenosing enteritis | -| GARD:1620 | Cryptogenic organizing pneumonia | -| GARD:8174 | Cryptomicrotia-brachydactyly-excess fingertip arch syndrome | -| GARD:10505 | Cryptophthalmia | -| GARD:860 | Cryptorchidism-arachnodactyly-intellectual disability syndrome | -| GARD:10163 | Curly hair-acral keratoderma-caries syndrome | -| GARD:1626 | Currarino syndrome | -| GARD:5584 | Curry-Jones syndrome | -| GARD:12867 | Cushing disease | -| GARD:6224 | Cushing syndrome | -| GARD:19698 | Cushing syndrome due to ectopic ACTH secretion | -| GARD:10824 | Cushing syndrome due to macronodular adrenal hyperplasia | -| GARD:12428 | Cutaneous collagenous vasculopathy | -| GARD:1629 | Cutaneous larva migrans | -| GARD:12687 | Cutaneous mastocytoma | -| GARD:7842 | Cutaneous mastocytosis | -| GARD:19723 | Cutaneous myiasis | -| GARD:9266 | Cutaneous neuroendocrine carcinoma | -| GARD:1633 | Cutaneous photosensitivity-lethal colitis syndrome | -| GARD:7415 | Cutaneous polyarteritis nodosa | -| GARD:21889 | Cutaneous pseudolymphoma | -| GARD:7851 | Cutaneous small vessel vasculitis | -| GARD:332 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | -| GARD:6227 | Cutis laxa | -| GARD:17140 | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | -| GARD:15055 | Cutis laxa, autosomal dominant 1 | -| GARD:15802 | Cutis laxa, autosomal dominant 2 | -| GARD:16143 | Cutis laxa, autosomal dominant 3 | -| GARD:15157 | Cutis laxa, autosomal recessive, type ia | -| GARD:15804 | Cutis laxa, autosomal recessive, type ib | -| GARD:17069 | Cutis laxa-Marfanoid syndrome | -| GARD:6228 | Cutis marmorata telangiectatica congenita | -| GARD:21938 | Cyanide poisoning | -| GARD:21266 | Cyanide-induced parkinsonism-dystonia | -| GARD:6229 | Cyclic neutropenia | -| GARD:9528 | Cyclosporosis | -| GARD:11906 | Cylindrical spirals myopathy | -| GARD:9487 | Cyprus facial-neuromusculoskeletal syndrome | -| GARD:20346 | Cystadenoma of childhood | -| GARD:2428 | Cystathioninuria | -| GARD:2764 | Cystic echinococcosis | -| GARD:6233 | Cystic fibrosis | -| GARD:3303 | Cystic fibrosis-gastritis-megaloblastic anemia syndrome | -| GARD:2557 | Cystic hamartoma of lung and kidney | -| GARD:13199 | Cystic leukoencephalopathy without megalencephaly | -| GARD:8194 | Cysticercosis | -| GARD:6236 | Cystinosis | -| GARD:6237 | Cystinuria | -| GARD:16827 | Cystinuria type A | -| GARD:16828 | Cystinuria type B | -| GARD:16694 | Cystoid macular dystrophy | -| GARD:19973 | Cysts and fistulae of the face and oral cavity | -| GARD:19884 | Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk | -| GARD:19249 | Cytophagic histiocytic panniculitis | -| GARD:17857 | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | -| GARD:4969 | Czeizel-Losonci syndrome | -| GARD:17540 | D,L-2-hydroxyglutaric aciduria | -| GARD:5661 | D-2-hydroxyglutaric aciduria | -| GARD:15685 | D-2-hydroxyglutaric aciduria 2 | -| GARD:234 | D-glyceric aciduria | -| GARD:12398 | DDOST-CDG | -| GARD:17899 | DDX41-related hematologic malignancy predisposition syndrome | -| GARD:16701 | DEND syndrome | -| GARD:17904 | DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | -| GARD:17679 | DITRA | -| GARD:12393 | DK1-CDG | -| GARD:20114 | DNA repair defect other than combined T-cell and B-cell immunodeficiencies | -| GARD:17518 | DNA2-related mitochondrial DNA deletion syndrome | -| GARD:18653 | DNAJB2-related Charcot-Marie-Tooth disease type 2 | -| GARD:12528 | DNAJB6-related limb-girdle muscular dystrophy D1 | -| GARD:17509 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect | -| GARD:12653 | DOCK2 deficiency | -| GARD:22314 | DONSON-related microcephaly-short stature-limb abnormalities spectrum | -| GARD:1685 | DOORS syndrome | -| GARD:9837 | DPAGT1-CDG | -| GARD:9831 | DPM1-CDG | -| GARD:12395 | DPM3-CDG | -| GARD:13519 | DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy | -| GARD:13527 | DYRK1A-related intellectual disability syndrome | -| GARD:20947 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | -| GARD:351 | Dacryocystitis-osteopoikilosis syndrome | -| GARD:237 | Dahlberg-Borer-Newcomer syndrome | -| GARD:1669 | Dandy-Walker malformation-postaxial polydactyly syndrome | -| GARD:6243 | Darier disease | -| GARD:49 | De Barsy syndrome | -| GARD:20651 | De novo thrombotic microangiopathy after kidney transplantation | -| GARD:5535 | Deaf blind hypopigmentation syndrome, Yemenite type | -| GARD:10707 | Deafness with labyrinthine aplasia, microtia, and microdontia | -| GARD:18161 | Deafness, aminoglycoside-induced | -| GARD:18103 | Deafness, autosomal dominant 10 | -| GARD:18104 | Deafness, autosomal dominant 11 | -| GARD:18107 | Deafness, autosomal dominant 12 | -| GARD:18108 | Deafness, autosomal dominant 13 | -| GARD:18109 | Deafness, autosomal dominant 15 | -| GARD:18110 | Deafness, autosomal dominant 16 | -| GARD:9726 | Deafness, autosomal dominant 17 | -| GARD:18113 | Deafness, autosomal dominant 18 | -| GARD:18111 | Deafness, autosomal dominant 20 | -| GARD:18116 | Deafness, autosomal dominant 21 | -| GARD:9167 | Deafness, autosomal dominant 22 | -| GARD:1708 | Deafness, autosomal dominant 23 | -| GARD:9166 | Deafness, autosomal dominant 24 | -| GARD:18112 | Deafness, autosomal dominant 25 | -| GARD:18128 | Deafness, autosomal dominant 27 | -| GARD:18124 | Deafness, autosomal dominant 28 | -| GARD:18099 | Deafness, autosomal dominant 2a | -| GARD:18131 | Deafness, autosomal dominant 2b | -| GARD:18114 | Deafness, autosomal dominant 30 | -| GARD:18125 | Deafness, autosomal dominant 31 | -| GARD:18135 | Deafness, autosomal dominant 33 | -| GARD:18115 | Deafness, autosomal dominant 36 | -| GARD:15383 | Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | -| GARD:9933 | Deafness, autosomal dominant 3a | -| GARD:18130 | Deafness, autosomal dominant 3b | -| GARD:18142 | Deafness, autosomal dominant 40 | -| GARD:18121 | Deafness, autosomal dominant 41 | -| GARD:18123 | Deafness, autosomal dominant 43 | -| GARD:18118 | Deafness, autosomal dominant 44 | -| GARD:18126 | Deafness, autosomal dominant 47 | -| GARD:18120 | Deafness, autosomal dominant 48 | -| GARD:18122 | Deafness, autosomal dominant 49 | -| GARD:18100 | Deafness, autosomal dominant 4a | -| GARD:18136 | Deafness, autosomal dominant 4b | -| GARD:18102 | Deafness, autosomal dominant 5 | -| GARD:18132 | Deafness, autosomal dominant 50 | -| GARD:18133 | Deafness, autosomal dominant 51 | -| GARD:18119 | Deafness, autosomal dominant 52 | -| GARD:9934 | Deafness, autosomal dominant 53 | -| GARD:18138 | Deafness, autosomal dominant 54 | -| GARD:18137 | Deafness, autosomal dominant 56 | -| GARD:18139 | Deafness, autosomal dominant 58 | -| GARD:18129 | Deafness, autosomal dominant 59 | -| GARD:18101 | Deafness, autosomal dominant 6 | -| GARD:18134 | Deafness, autosomal dominant 64 | -| GARD:18140 | Deafness, autosomal dominant 65 | -| GARD:18146 | Deafness, autosomal dominant 66 | -| GARD:18141 | Deafness, autosomal dominant 67 | -| GARD:18144 | Deafness, autosomal dominant 68 | -| GARD:18143 | Deafness, autosomal dominant 69 | -| GARD:18106 | Deafness, autosomal dominant 7 | -| GARD:18145 | Deafness, autosomal dominant 70 | -| GARD:18147 | Deafness, autosomal dominant 71 | -| GARD:18148 | Deafness, autosomal dominant 72 | -| GARD:18149 | Deafness, autosomal dominant 73 | -| GARD:18151 | Deafness, autosomal dominant 74 | -| GARD:18153 | Deafness, autosomal dominant 75 | -| GARD:18154 | Deafness, autosomal dominant 76 | -| GARD:18155 | Deafness, autosomal dominant 77 | -| GARD:18156 | Deafness, autosomal dominant 78 | -| GARD:18157 | Deafness, autosomal dominant 79 | -| GARD:18158 | Deafness, autosomal dominant 80 | -| GARD:18105 | Deafness, autosomal dominant 9 | -| GARD:18117 | Deafness, autosomal recessive | -| GARD:22660 | Deafness, autosomal recessive 100 | -| GARD:22651 | Deafness, autosomal recessive 101 | -| GARD:22652 | Deafness, autosomal recessive 102 | -| GARD:22653 | Deafness, autosomal recessive 103 | -| GARD:22654 | Deafness, autosomal recessive 104 | -| GARD:22656 | Deafness, autosomal recessive 106 | -| GARD:22657 | Deafness, autosomal recessive 107 | -| GARD:22658 | Deafness, autosomal recessive 108 | -| GARD:18150 | Deafness, autosomal recessive 110 | -| GARD:22659 | Deafness, autosomal recessive 111 | -| GARD:18377 | Deafness, autosomal recessive 112 | -| GARD:18152 | Deafness, autosomal recessive 113 | -| GARD:22662 | Deafness, autosomal recessive 114 | -| GARD:22664 | Deafness, autosomal recessive 116 | -| GARD:22665 | Deafness, autosomal recessive 117 | -| GARD:22590 | Deafness, autosomal recessive 12 | -| GARD:22594 | Deafness, autosomal recessive 13 | -| GARD:22596 | Deafness, autosomal recessive 14 | -| GARD:22591 | Deafness, autosomal recessive 15 | -| GARD:22597 | Deafness, autosomal recessive 16 | -| GARD:22593 | Deafness, autosomal recessive 17 | -| GARD:22592 | Deafness, autosomal recessive 18a | -| GARD:22648 | Deafness, autosomal recessive 18b | -| GARD:1697 | Deafness, autosomal recessive 1a | -| GARD:22629 | Deafness, autosomal recessive 1b | -| GARD:22582 | Deafness, autosomal recessive 2 | -| GARD:22598 | Deafness, autosomal recessive 20 | -| GARD:22595 | Deafness, autosomal recessive 21 | -| GARD:22601 | Deafness, autosomal recessive 22 | -| GARD:22613 | Deafness, autosomal recessive 23 | -| GARD:22626 | Deafness, autosomal recessive 24 | -| GARD:22632 | Deafness, autosomal recessive 25 | -| GARD:22599 | Deafness, autosomal recessive 26 | -| GARD:22600 | Deafness, autosomal recessive 27 | -| GARD:22617 | Deafness, autosomal recessive 28 | -| GARD:22641 | Deafness, autosomal recessive 29 | -| GARD:22583 | Deafness, autosomal recessive 3 | -| GARD:22603 | Deafness, autosomal recessive 30 | -| GARD:22602 | Deafness, autosomal recessive 31 | -| GARD:22610 | Deafness, autosomal recessive 32, with or without immotile sperm | -| GARD:22604 | Deafness, autosomal recessive 33 | -| GARD:22609 | Deafness, autosomal recessive 35 | -| GARD:22611 | Deafness, autosomal recessive 36, with or without vestibular involvement | -| GARD:22605 | Deafness, autosomal recessive 37 | -| GARD:22606 | Deafness, autosomal recessive 38 | -| GARD:22608 | Deafness, autosomal recessive 39 | -| GARD:22584 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | -| GARD:22607 | Deafness, autosomal recessive 40 | -| GARD:22614 | Deafness, autosomal recessive 42 | -| GARD:22620 | Deafness, autosomal recessive 44 | -| GARD:22628 | Deafness, autosomal recessive 45 | -| GARD:22615 | Deafness, autosomal recessive 46 | -| GARD:9935 | Deafness, autosomal recessive 47 | -| GARD:22612 | Deafness, autosomal recessive 48 | -| GARD:22619 | Deafness, autosomal recessive 49 | -| GARD:22585 | Deafness, autosomal recessive 5 | -| GARD:9918 | Deafness, autosomal recessive 51 | -| GARD:22616 | Deafness, autosomal recessive 53 | -| GARD:9919 | Deafness, autosomal recessive 55 | -| GARD:22622 | Deafness, autosomal recessive 59 | -| GARD:22586 | Deafness, autosomal recessive 6 | -| GARD:22639 | Deafness, autosomal recessive 61 | -| GARD:22618 | Deafness, autosomal recessive 62 | -| GARD:22627 | Deafness, autosomal recessive 63 | -| GARD:22623 | Deafness, autosomal recessive 65 | -| GARD:22621 | Deafness, autosomal recessive 66 | -| GARD:22624 | Deafness, autosomal recessive 67 | -| GARD:22625 | Deafness, autosomal recessive 68 | -| GARD:22587 | Deafness, autosomal recessive 7 | -| GARD:22646 | Deafness, autosomal recessive 70 | -| GARD:22630 | Deafness, autosomal recessive 71 | -| GARD:22638 | Deafness, autosomal recessive 74 | -| GARD:22650 | Deafness, autosomal recessive 76 | -| GARD:22631 | Deafness, autosomal recessive 77 | -| GARD:22633 | Deafness, autosomal recessive 79 | -| GARD:22589 | Deafness, autosomal recessive 8 | -| GARD:22637 | Deafness, autosomal recessive 83 | -| GARD:22634 | Deafness, autosomal recessive 84a | -| GARD:22647 | Deafness, autosomal recessive 84b | -| GARD:22635 | Deafness, autosomal recessive 85 | -| GARD:22643 | Deafness, autosomal recessive 86 | -| GARD:22649 | Deafness, autosomal recessive 88 | -| GARD:22640 | Deafness, autosomal recessive 89 | -| GARD:22588 | Deafness, autosomal recessive 9 | -| GARD:22636 | Deafness, autosomal recessive 91 | -| GARD:22645 | Deafness, autosomal recessive 93 | -| GARD:22661 | Deafness, autosomal recessive 94 | -| GARD:22642 | Deafness, autosomal recessive 96 | -| GARD:22655 | Deafness, autosomal recessive 97 | -| GARD:22644 | Deafness, autosomal recessive 98 | -| GARD:22663 | Deafness, autosomal recessive 99 | -| GARD:18160 | Deafness, nonsyndromic sensorineural, mitochondrial | -| GARD:18159 | Deafness, sensorineural, autosomal-mitochondrial type | -| GARD:18098 | Deafness, x-linked 1 | -| GARD:4504 | Deafness, x-linked 2 | -| GARD:18095 | Deafness, x-linked 3 | -| GARD:18096 | Deafness, x-linked 4 | -| GARD:18097 | Deafness, x-linked 6 | -| GARD:1686 | Deafness-craniofacial syndrome | -| GARD:1684 | Deafness-ear malformation-facial palsy syndrome | -| GARD:1687 | Deafness-enamel hypoplasia-nail defects syndrome | -| GARD:17230 | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | -| GARD:1688 | Deafness-epiphyseal dysplasia-short stature syndrome | -| GARD:4303 | Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome | -| GARD:1691 | Deafness-hypogonadism syndrome | -| GARD:11911 | Deafness-infertility syndrome | -| GARD:16750 | Deafness-intellectual disability syndrome, Martin-Probst type | -| GARD:13030 | Deafness-lymphedema-leukemia syndrome | -| GARD:1698 | Deafness-oligodontia syndrome | -| GARD:16624 | Deafness-onychodystrophy syndrome | -| GARD:2568 | Deafness-small bowel diverticulosis-neuropathy syndrome | -| GARD:1705 | Deafness-vitiligo-achalasia syndrome | -| GARD:19720 | Dedifferentiated liposarcoma | -| GARD:21631 | Deep dermatophytosis | -| GARD:21345 | Defect in V-ATPase | -| GARD:21344 | Defect in conserved oligomeric Golgi complex | -| GARD:17353 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | -| GARD:20194 | Deficient breast volume or number | -| GARD:5623 | Dehydrated hereditary stomatocytosis | -| GARD:15126 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | -| GARD:16152 | Dehydrated hereditary stomatocytosis 2 | -| GARD:9204 | Dejerine-Sottas syndrome | -| GARD:21265 | Delayed encephalopathy due to carbon monoxide poisoning | -| GARD:1727 | Delayed membranous cranial ossification | -| GARD:3449 | Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome | -| GARD:18730 | Deletion 5q35 | -| GARD:18533 | Delpire-mcneill syndrome | -| GARD:17165 | Delta-beta-thalassemia | -| GARD:8573 | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 | -| GARD:19371 | Dementia pugilistica | -| GARD:1802 | Demodicidosis | -| GARD:21952 | Demyelinating hereditary motor and sensory neuropathy | -| GARD:19082 | Dendritic cell sarcoma not otherwise specified | -| GARD:8317 | Dendritic cell tumor | -| GARD:6254 | Dengue fever | -| GARD:8555 | Dense deposit disease | -| GARD:19470 | Dense granule disease | -| GARD:13105 | Dent disease | -| GARD:1804 | Dent disease type 1 | -| GARD:10645 | Dent disease type 2 | -| GARD:701 | Dental ankylosis | -| GARD:5643 | Dentatorubral pallidoluysian atrophy | -| GARD:16575 | Dentin dysplasia | -| GARD:1807 | Dentin dysplasia type I | -| GARD:1806 | Dentin dysplasia type II | -| GARD:1808 | Dentin dysplasia-sclerotic bones syndrome | -| GARD:6258 | Dentinogenesis imperfecta | -| GARD:12796 | Dentinogenesis imperfecta type 2 | -| GARD:10144 | Dentinogenesis imperfecta type 3 | -| GARD:18909 | Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome | -| GARD:19532 | Dentocutaneous disease with cataract | -| GARD:5576 | Denys-Drash syndrome | -| GARD:1917 | Dermatitis herpetiformis | -| GARD:10075 | Dermatitis herpetiformis, familial | -| GARD:9569 | Dermatofibrosarcoma protuberans | -| GARD:1813 | Dermatoleukodystrophy | -| GARD:6263 | Dermatomyositis | -| GARD:1814 | Dermatoosteolysis, Kirghizian type | -| GARD:8550 | Dermatopathia pigmentosa reticularis | -| GARD:2089 | Dermatosparaxis Ehlers-Danlos syndrome | -| GARD:19006 | Dermis disorder | -| GARD:19007 | Dermis elastic tissue disorder | -| GARD:1815 | Dermochondrocorneal dystrophy | -| GARD:22206 | Dermoid or epidermoid cyst of the central nervous system | -| GARD:1816 | Dermoodontodysplasia | -| GARD:19683 | Dermotrichic syndrome | -| GARD:16451 | Desbuquois dysplasia 1 | -| GARD:16466 | Desbuquois dysplasia 2 | -| GARD:1818 | Desbuquois syndrome | -| GARD:16732 | Desmin-related myopathy with Mallory body-like inclusions | -| GARD:16870 | Desminopathy | -| GARD:15070 | Desmoid disease, hereditary | -| GARD:1820 | Desmoid tumor | -| GARD:20729 | Desmoplastic infantile astrocytoma/ganglioglioma | -| GARD:6265 | Desmoplastic small round cell tumor | -| GARD:17215 | Desmoplastic/nodular medulloblastoma | -| GARD:10283 | Desmosterolosis | -| GARD:16864 | Desquamative interstitial pneumonia | -| GARD:15298 | Developmental and epileptic encephalopathy 1 | -| GARD:15699 | Developmental and epileptic encephalopathy 11 | -| GARD:13318 | Developmental and epileptic encephalopathy 12 | -| GARD:13085 | Developmental and epileptic encephalopathy 13 | -| GARD:15886 | Developmental and epileptic encephalopathy 14 | -| GARD:15892 | Developmental and epileptic encephalopathy 15 | -| GARD:15945 | Developmental and epileptic encephalopathy 16 | -| GARD:13378 | Developmental and epileptic encephalopathy 17 | -| GARD:13676 | Developmental and epileptic encephalopathy 18 | -| GARD:16008 | Developmental and epileptic encephalopathy 19 | -| GARD:18617 | Developmental and epileptic encephalopathy 2 | -| GARD:16017 | Developmental and epileptic encephalopathy 21 | -| GARD:16024 | Developmental and epileptic encephalopathy 24 | -| GARD:12901 | Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta | -| GARD:12391 | Developmental and epileptic encephalopathy 26 | -| GARD:16063 | Developmental and epileptic encephalopathy 27 | -| GARD:16069 | Developmental and epileptic encephalopathy 28 | -| GARD:16092 | Developmental and epileptic encephalopathy 29 | -| GARD:15456 | Developmental and epileptic encephalopathy 3 | -| GARD:16093 | Developmental and epileptic encephalopathy 30 | -| GARD:16094 | Developmental and epileptic encephalopathy 31 | -| GARD:16096 | Developmental and epileptic encephalopathy 32 | -| GARD:16106 | Developmental and epileptic encephalopathy 33 | -| GARD:16147 | Developmental and epileptic encephalopathy 34 | -| GARD:16175 | Developmental and epileptic encephalopathy 38 | -| GARD:12900 | Developmental and epileptic encephalopathy 4 | -| GARD:16182 | Developmental and epileptic encephalopathy 40 | -| GARD:16190 | Developmental and epileptic encephalopathy 41 | -| GARD:16191 | Developmental and epileptic encephalopathy 42 | -| GARD:16192 | Developmental and epileptic encephalopathy 43 | -| GARD:16198 | Developmental and epileptic encephalopathy 44 | -| GARD:16203 | Developmental and epileptic encephalopathy 45 | -| GARD:16205 | Developmental and epileptic encephalopathy 46 | -| GARD:16206 | Developmental and epileptic encephalopathy 47 | -| GARD:16218 | Developmental and epileptic encephalopathy 48 | -| GARD:12949 | Developmental and epileptic encephalopathy 5 | -| GARD:16223 | Developmental and epileptic encephalopathy 52 | -| GARD:16224 | Developmental and epileptic encephalopathy 53 | -| GARD:16225 | Developmental and epileptic encephalopathy 54 | -| GARD:16241 | Developmental and epileptic encephalopathy 55 | -| GARD:16259 | Developmental and epileptic encephalopathy 58 | -| GARD:16270 | Developmental and epileptic encephalopathy 60 | -| GARD:16271 | Developmental and epileptic encephalopathy 62 | -| GARD:16283 | Developmental and epileptic encephalopathy 65 | -| GARD:16295 | Developmental and epileptic encephalopathy 67 | -| GARD:16310 | Developmental and epileptic encephalopathy 68 | -| GARD:16336 | Developmental and epileptic encephalopathy 70 | -| GARD:16349 | Developmental and epileptic encephalopathy 74 | -| GARD:16352 | Developmental and epileptic encephalopathy 75 | -| GARD:16355 | Developmental and epileptic encephalopathy 76 | -| GARD:16365 | Developmental and epileptic encephalopathy 78 | -| GARD:16366 | Developmental and epileptic encephalopathy 79 | -| GARD:16391 | Developmental and epileptic encephalopathy 86 | -| GARD:16393 | Developmental and epileptic encephalopathy 87 | -| GARD:16398 | Developmental and epileptic encephalopathy 88 | -| GARD:16424 | Developmental and epileptic encephalopathy 89 | -| GARD:15286 | Developmental and epileptic encephalopathy 90 | -| GARD:16258 | Developmental and epileptic encephalopathy 92 | -| GARD:16285 | Developmental and epileptic encephalopathy 93 | -| GARD:13197 | Developmental and epileptic encephalopathy 94 | -| GARD:16445 | Developmental and epileptic encephalopathy 96 | -| GARD:17415 | Developmental and speech delay due to SOX5 deficiency | -| GARD:19900 | Developmental anomaly of metabolic origin | -| GARD:16857 | Developmental defect of the eye | -| GARD:16261 | Developmental delay and seizures with or without movement abnormalities | -| GARD:17322 | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency | -| GARD:17496 | Developmental delay with autism spectrum disorder and gait instability | -| GARD:18517 | Developmental delay with variable intellectual impairment and behavioral abnormalities | -| GARD:17588 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | -| GARD:22468 | Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome | -| GARD:9818 | Developmental malformations-deafness-dystonia syndrome | -| GARD:1827 | Dextrocardia | -| GARD:15289 | Diabetes insipidus, nephrogenic, 1, x-linked | -| GARD:15058 | Diabetes insipidus, nephrogenic, 2, autosomal | -| GARD:18602 | Diabetes insipidus, neurohypophyseal | -| GARD:18603 | Diabetes insipidus, neurohypophyseal, x-linked | -| GARD:16388 | Diabetes mellitus, permanent neonatal, 2 | -| GARD:16389 | Diabetes mellitus, permanent neonatal, 3 | -| GARD:16390 | Diabetes mellitus, permanent neonatal, 4 | -| GARD:15482 | Diabetes mellitus, transient neonatal, 2 | -| GARD:15490 | Diabetes mellitus, transient neonatal, 3 | -| GARD:16580 | Diabetic embryopathy | -| GARD:15039 | Diamond-blackfan anemia 1 | -| GARD:15645 | Diamond-blackfan anemia 10 | -| GARD:15879 | Diamond-blackfan anemia 11 | -| GARD:15985 | Diamond-blackfan anemia 12 | -| GARD:16030 | Diamond-blackfan anemia 13 | -| GARD:15275 | Diamond-blackfan anemia 14 with mandibulofacial dysostosis | -| GARD:15390 | Diamond-blackfan anemia 15 with mandibulofacial dysostosis | -| GARD:16227 | Diamond-blackfan anemia 16 | -| GARD:16228 | Diamond-blackfan anemia 17 | -| GARD:16338 | Diamond-blackfan anemia 18 | -| GARD:16339 | Diamond-blackfan anemia 19 | -| GARD:8283 | Diamond-blackfan anemia 2 | -| GARD:16340 | Diamond-blackfan anemia 20 | -| GARD:10241 | Diamond-blackfan anemia 3 | -| GARD:15561 | Diamond-blackfan anemia 4 | -| GARD:15562 | Diamond-blackfan anemia 5 | -| GARD:15568 | Diamond-blackfan anemia 6 | -| GARD:15569 | Diamond-blackfan anemia 7 | -| GARD:15570 | Diamond-blackfan anemia 8 | -| GARD:15644 | Diamond-blackfan anemia 9 | -| GARD:9797 | Dianzani autoimmune lymphoproliferative disease | -| GARD:16674 | Diaphanospondylodysostosis | -| GARD:2397 | Diaphragmatic defect-limb deficiency-skull defect syndrome | -| GARD:15161 | Diaphragmatic hernia 2 | -| GARD:15474 | Diaphragmatic hernia 3 | -| GARD:22193 | Diaphragmatic hernia-short bowel-asplenia syndrome | -| GARD:19393 | Diaphragmatic or abdominal wall malformation | -| GARD:10072 | Diaphyseal medullary stenosis-bone malignancy syndrome | -| GARD:18260 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | -| GARD:18261 | Diarrhea 8, secretory sodium, congenital | -| GARD:6275 | Diastrophic dysplasia | -| GARD:20068 | Diazoxide-resistant diffuse hyperinsulinism | -| GARD:18983 | Diazoxide-resistant focal hyperinsulinism | -| GARD:17286 | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | -| GARD:17285 | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | -| GARD:21055 | Diazoxide-resistant hyperinsulinism | -| GARD:20067 | Diazoxide-sensitive diffuse hyperinsulinism | -| GARD:1855 | Dicarboxylic aminoaciduria | -| GARD:20176 | Didelphys uterus | -| GARD:21591 | Didymosis aplasticosebacea | -| GARD:6276 | Diencephalic syndrome | -| GARD:21407 | Diencephalic-mesencephalic junction dysplasia | -| GARD:1859 | Diethylstilbestrol syndrome | -| GARD:12027 | Differentiated thyroid carcinoma | -| GARD:19110 | Diffuse alveolar hemorrhage | -| GARD:5907 | Diffuse astrocytoma | -| GARD:17672 | Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome | -| GARD:12686 | Diffuse cutaneous mastocytosis | -| GARD:9751 | Diffuse cutaneous systemic sclerosis | -| GARD:10780 | Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia | -| GARD:13075 | Diffuse intrinsic pontine glioma | -| GARD:3178 | Diffuse large B-cell lymphoma | -| GARD:21246 | Diffuse large B-cell lymphoma of the central nervous system | -| GARD:21250 | Diffuse large B-cell lymphoma with chronic inflammation | -| GARD:20739 | Diffuse leptomeningeal melanocytosis | -| GARD:19961 | Diffuse lymphatic malformation | -| GARD:1861 | Diffuse neonatal hemangiomatosis | -| GARD:21289 | Diffuse palmoplantar keratoderma | -| GARD:17595 | Diffuse palmoplantar keratoderma with painful fissures | -| GARD:19089 | Diffuse palmoplantar keratoderma-acrocyanosis syndrome | -| GARD:8526 | Diffuse panbronchiolitis | -| GARD:15118 | Digeorge syndrome | -| GARD:18684 | Digestive duplication | -| GARD:19942 | Digestive duplication cyst of the tongue | -| GARD:19391 | Digestive tract malformation | -| GARD:2589 | Digital extensor muscle aplasia-polyneuropathy | -| GARD:18807 | Digitalis poisoning | -| GARD:15059 | Digitotalar dysmorphism | -| GARD:4319 | Dihydropteridine reductase deficiency | -| GARD:19 | Dihydropyrimidine dehydrogenase deficiency | -| GARD:12347 | Dihydropyrimidinuria | -| GARD:221 | Dilated cardiomyopathy | -| GARD:12964 | Dilated cardiomyopathy with ataxia | -| GARD:3373 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | -| GARD:17185 | Dimethylglycine dehydrogenase deficiency | -| GARD:1872 | Diphallia | -| GARD:1875 | Diphtheria | -| GARD:942 | Diphyllobothriasis | -| GARD:1876 | Diprosopus | -| GARD:11908 | Dirofilariasis | -| GARD:19131 | Discoid lupus erythematosus | -| GARD:19620 | Discrete fibromuscular subaortic stenosis | -| GARD:16892 | Discrete fixed membranous subaortic stenosis | -| GARD:19138 | Discrete papular lichen myxedematosus | -| GARD:19274 | Disease associated with non-acquired combined pituitary hormone deficiency | -| GARD:21291 | Disease with diffuse palmoplantar keratoderma as a major feature | -| GARD:21296 | Disease with focal palmoplantar keratoderma as a major feature | -| GARD:21300 | Disease with punctate palmoplantar keratoderma as a major feature | -| GARD:1428 | Dislocation of the hip-dysmorphism syndrome | -| GARD:21338 | Disorder of O-N-acetylgalactosaminylglycan synthesis | -| GARD:21340 | Disorder of O-mannosylglycan synthesis | -| GARD:21339 | Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis | -| GARD:21337 | Disorder of O-xylosylglycan synthesis | -| GARD:18948 | Disorder of amino acid absorption and transport | -| GARD:18937 | Disorder of amino acid and other organic acid metabolism | -| GARD:21622 | Disorder of asparagine metabolism | -| GARD:21303 | Disorder of beta and omega amino acid metabolism | -| GARD:18949 | Disorder of bile acid synthesis | -| GARD:21347 | Disorder of bilirubin metabolism and excretion | -| GARD:18976 | Disorder of biogenic amine metabolism and transport | -| GARD:18971 | Disorder of branched-chain amino acid metabolism | -| GARD:21313 | Disorder of carbohydrate absorption and transport | -| GARD:18946 | Disorder of carbohydrate metabolism | -| GARD:21320 | Disorder of carnitine cycle and carnitine transport | -| GARD:21351 | Disorder of catecholamine synthesis | -| GARD:18951 | Disorder of cobalamin metabolism and transport | -| GARD:21354 | Disorder of copper metabolism | -| GARD:18972 | Disorder of energy metabolism | -| GARD:21317 | Disorder of fatty acid oxidation and ketogenesis | -| GARD:18954 | Disorder of fatty acid oxidation and ketone body metabolism | -| GARD:21131 | Disorder of folate metabolism and transport | -| GARD:21307 | Disorder of fructose metabolism | -| GARD:21341 | Disorder of fucoglycosan synthesis | -| GARD:21308 | Disorder of galactose metabolism | -| GARD:18955 | Disorder of gamma-aminobutyric acid metabolism | -| GARD:21156 | Disorder of glutamine metabolism | -| GARD:18958 | Disorder of glycerol metabolism | -| GARD:21306 | Disorder of glycolysis | -| GARD:21342 | Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation | -| GARD:21312 | Disorder of glyoxylate metabolism | -| GARD:18959 | Disorder of histidine metabolism | -| GARD:21355 | Disorder of iron metabolism and transport | -| GARD:18960 | Disorder of ketolysis | -| GARD:21821 | Disorder of keton body transport | -| GARD:21316 | Disorder of lipid absorption and transport | -| GARD:21314 | Disorder of lipid metabolism | -| GARD:21155 | Disorder of lysine and hydroxylysine metabolism | -| GARD:18974 | Disorder of lysosomal amino acid transport | -| GARD:21334 | Disorder of lysosomal-related organelles | -| GARD:21357 | Disorder of magnesium transport | -| GARD:21358 | Disorder of manganese transport | -| GARD:21528 | Disorder of melanin metabolism | -| GARD:21349 | Disorder of metabolite absorption and transport | -| GARD:18953 | Disorder of methionine cycle and sulfur amino acid metabolism | -| GARD:21353 | Disorder of mineral absorption and transport | -| GARD:21343 | Disorder of multiple glycosylation | -| GARD:18950 | Disorder of neurotransmitter metabolism and transport | -| GARD:21305 | Disorder of neutral amino acid transport | -| GARD:21158 | Disorder of ornithine metabolism | -| GARD:18961 | Disorder of ornithine or proline metabolism | -| GARD:21352 | Disorder of other vitamins and cofactors metabolism and transport | -| GARD:18962 | Disorder of pentose phosphate metabolism | -| GARD:18963 | Disorder of peptide metabolism | -| GARD:12476 | Disorder of peroxisomal alpha-, beta- and omega-oxidation | -| GARD:18964 | Disorder of phenylalanin or tyrosine metabolism | -| GARD:21126 | Disorder of phenylalanine metabolism | -| GARD:21516 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis | -| GARD:21517 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement | -| GARD:21518 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement | -| GARD:21519 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement | -| GARD:18790 | Disorder of plasmalogens biosynthesis | -| GARD:21346 | Disorder of porphyrin and heme metabolism | -| GARD:21157 | Disorder of proline metabolism | -| GARD:21335 | Disorder of protein N-glycosylation | -| GARD:21336 | Disorder of protein O-glycosylation | -| GARD:21348 | Disorder of pterin metabolism | -| GARD:18965 | Disorder of purine metabolism | -| GARD:18980 | Disorder of purine or pyrimidine metabolism | -| GARD:18966 | Disorder of pyridoxine metabolism | -| GARD:18967 | Disorder of pyrimidine metabolism | -| GARD:18968 | Disorder of serine or glycine metabolism | -| GARD:19147 | Disorder of sex development | -| GARD:21477 | Disorder of sex development of gynecological interest | -| GARD:4550 | Disorder of sex development-intellectual disability syndrome | -| GARD:21332 | Disorder of sialic acid metabolism | -| GARD:18970 | Disorder of the gamma-glutamyl cycle | -| GARD:21231 | Disorder of thiamine metabolism and transport | -| GARD:21154 | Disorder of tryptophan metabolism | -| GARD:21127 | Disorder of tyrosine metabolism | -| GARD:7837 | Disorder of urea cycle metabolism and ammonia detoxification | -| GARD:21350 | Disorder of vitamin and non-protein cofactor absorption and transport | -| GARD:21356 | Disorder of zinc metabolism and transport | -| GARD:22293 | Disorder with multisystemic involvement and glomerulopathy | -| GARD:22298 | Disorder with multisystemic involvement and primary lymphedema | -| GARD:22113 | Disorder with optic nerve compression | -| GARD:21841 | Disorders of pentose/polyol metabolism | -| GARD:21132 | Disorders of vitamin D metabolism | -| GARD:1883 | Dissecting cellulitis of the scalp | -| GARD:12843 | Disseminated peritoneal leiomyomatosis | -| GARD:10983 | Disseminated superficial actinic porokeratosis | -| GARD:17244 | Distal 16p11.2 microdeletion syndrome | -| GARD:10996 | Distal 17p13.1 microdeletion syndrome | -| GARD:20776 | Distal 17p13.3 microdeletion syndrome | -| GARD:17245 | Distal 22q11.2 microdeletion syndrome | -| GARD:20780 | Distal 22q11.2 microduplication syndrome | -| GARD:17218 | Distal 7q11.23 microdeletion syndrome | -| GARD:20770 | Distal 7q11.23 microduplication syndrome | -| GARD:17350 | Distal Xq28 microduplication syndrome | -| GARD:17653 | Distal anoctaminopathy | -| GARD:786 | Distal arthrogryposis | -| GARD:787 | Distal arthrogryposis type 1 | -| GARD:17212 | Distal arthrogryposis type 10 | -| GARD:13059 | Distal arthrogryposis type 5D | -| GARD:12683 | Distal hereditary motor neuropathy | -| GARD:16953 | Distal hereditary motor neuropathy type 1 | -| GARD:16954 | Distal hereditary motor neuropathy type 2 | -| GARD:16955 | Distal hereditary motor neuropathy type 5 | -| GARD:16960 | Distal hereditary motor neuropathy type 7 | -| GARD:10133 | Distal hereditary motor neuropathy, Jerash type | -| GARD:3252 | Distal limb deficiencies-micrognathia syndrome | -| GARD:1323 | Distal monosomy 10p | -| GARD:3711 | Distal monosomy 10q | -| GARD:21078 | Distal monosomy 12p | -| GARD:19328 | Distal monosomy 12q | -| GARD:16571 | Distal monosomy 13q | -| GARD:19329 | Distal monosomy 14q | -| GARD:16572 | Distal monosomy 15q | -| GARD:10972 | Distal monosomy 17q | -| GARD:19326 | Distal monosomy 19p13.3 | -| GARD:16640 | Distal monosomy 1q | -| GARD:3750 | Distal monosomy 3p | -| GARD:19327 | Distal monosomy 4q | -| GARD:16845 | Distal monosomy 6p | -| GARD:19325 | Distal monosomy 7p | -| GARD:18731 | Distal monosomy 7q36 | -| GARD:18732 | Distal monosomy 9p | -| GARD:18699 | Distal myopathy | -| GARD:17080 | Distal myopathy with anterior tibial onset | -| GARD:16666 | Distal myopathy with posterior leg and anterior hand involvement | -| GARD:17900 | Distal myopathy, Tateyama type | -| GARD:5552 | Distal myopathy, Welander type | -| GARD:16871 | Distal myotilinopathy | -| GARD:21656 | Distal nebulin myopathy | -| GARD:4667 | Distal renal tubular acidosis | -| GARD:12354 | Distal renal tubular acidosis with anemia | -| GARD:16956 | Distal spinal muscular atrophy type 3 | -| GARD:5074 | Distal symphalangism | -| GARD:17424 | Distal tetrasomy 15q | -| GARD:19317 | Distal trisomy 10q | -| GARD:19318 | Distal trisomy 11q | -| GARD:19319 | Distal trisomy 13q | -| GARD:18739 | Distal trisomy 14q | -| GARD:18740 | Distal trisomy 15q | -| GARD:19320 | Distal trisomy 16q | -| GARD:18794 | Distal trisomy 17q | -| GARD:18742 | Distal trisomy 18q | -| GARD:18743 | Distal trisomy 19q | -| GARD:19303 | Distal trisomy 1p36 | -| GARD:19321 | Distal trisomy 20q | -| GARD:19322 | Distal trisomy 22q | -| GARD:19304 | Distal trisomy 2p | -| GARD:19310 | Distal trisomy 2q | -| GARD:19305 | Distal trisomy 3p | -| GARD:19312 | Distal trisomy 4q | -| GARD:19313 | Distal trisomy 5q | -| GARD:18745 | Distal trisomy 6p | -| GARD:19314 | Distal trisomy 6q | -| GARD:19307 | Distal trisomy 7p | -| GARD:19315 | Distal trisomy 8q | -| GARD:19316 | Distal trisomy 9q | -| GARD:1891 | Distomatosis | -| GARD:5092 | Dobrow syndrome | -| GARD:17164 | Dominant beta-thalassemia | -| GARD:17186 | Dominant hypophosphatemia with nephrolithiasis or osteoporosis | -| GARD:1899 | Donnai-Barrow syndrome | -| GARD:12144 | Dopa-responsive dystonia | -| GARD:10365 | Dopa-responsive dystonia due to sepiapterin reductase deficiency | -| GARD:1903 | Dopamine beta-hydroxylase deficiency | -| GARD:1907 | Double outlet left ventricle | -| GARD:1908 | Double outlet right ventricle | -| GARD:21756 | Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy | -| GARD:19617 | Double outlet right ventricle with non-committed subpulmonary ventricular septal defect | -| GARD:21755 | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect | -| GARD:19615 | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis | -| GARD:19616 | Double outlet right ventricle with subpulmonary ventricular septal defect | -| GARD:1910 | Double uterus-hemivagina-renal agenesis syndrome | -| GARD:19268 | Double-orifice mitral valve | -| GARD:9775 | Dowling-Degos disease | -| GARD:15944 | Dowling-degos disease 2 | -| GARD:16001 | Dowling-degos disease 3 | -| GARD:16002 | Dowling-degos disease 4 | -| GARD:10247 | Down syndrome | -| GARD:6286 | Dracunculiasis | -| GARD:10430 | Dravet syndrome | -| GARD:20942 | Drug or radiation exposure-related interstitial lung disease | -| GARD:13629 | Drug reaction with eosinophilia and systemic symptoms | -| GARD:21026 | Drug- or toxin-induced pulmonary arterial hypertension | -| GARD:19102 | Drug-induced autoimmune hemolytic anemia | -| GARD:19126 | Drug-induced localized lipodystrophy | -| GARD:20599 | Drug-induced lupus erythematosus | -| GARD:20697 | Drug-induced vasculitis | -| GARD:19378 | Drug-related renal tubular dysgenesis | -| GARD:18842 | Duane anomaly-myopathy-scoliosis syndrome | -| GARD:6288 | Duane retraction syndrome | -| GARD:10763 | Duane retraction syndrome 1 | -| GARD:9966 | Duane retraction syndrome 2 | -| GARD:10691 | Duane retraction syndrome 3 with or without deafness | -| GARD:17968 | Duane retraction syndrome with congenital deafness | -| GARD:2793 | Dubin-Johnson syndrome | -| GARD:6290 | Dubowitz syndrome | -| GARD:18686 | Duchenne and Becker muscular dystrophy | -| GARD:6291 | Duchenne muscular dystrophy | -| GARD:54 | Duodenal atresia | -| GARD:19751 | Duodenal neuroendocrine tumor | -| GARD:19164 | Duplication of the esophagus | -| GARD:21381 | Duplication of the pituitary gland | -| GARD:1975 | Duplication of urethra | -| GARD:19368 | Dural sinus malformation | -| GARD:6295 | Dyggve-Melchior-Clausen disease | -| GARD:15290 | Dyggve-melchior-clausen syndrome, x-linked | -| GARD:6703 | Dysbetalipoproteinemia | -| GARD:1994 | Dyschondrosteosis-nephritis syndrome | -| GARD:334 | Dyschromatosis symmetrica hereditaria | -| GARD:1996 | Dyschromatosis universalis hereditaria | -| GARD:15581 | Dyschromatosis universalis hereditaria 2 | -| GARD:15959 | Dyschromatosis universalis hereditaria 3 | -| GARD:10640 | Dysembryoplastic neuroepithelial tumor | -| GARD:1998 | Dysequilibrium syndrome | -| GARD:8574 | Dysferlin-related limb-girdle muscular dystrophy R2 | -| GARD:10905 | Dyskeratosis congenita | -| GARD:6299 | Dyskeratosis congenita, autosomal dominant 1 | -| GARD:15741 | Dyskeratosis congenita, autosomal dominant 2 | -| GARD:15742 | Dyskeratosis congenita, autosomal dominant 3 | -| GARD:16136 | Dyskeratosis congenita, autosomal dominant 6 | -| GARD:6300 | Dyskeratosis congenita, autosomal recessive 1 | -| GARD:15739 | Dyskeratosis congenita, autosomal recessive 2 | -| GARD:15740 | Dyskeratosis congenita, autosomal recessive 3 | -| GARD:15917 | Dyskeratosis congenita, autosomal recessive 5 | -| GARD:16095 | Dyskeratosis congenita, autosomal recessive 6 | -| GARD:2007 | Dyskeratosis congenita, x-linked | -| GARD:2009 | Dysmorphism-cleft palate-loose skin syndrome | -| GARD:17328 | Dysmorphism-conductive hearing loss-heart defect syndrome | -| GARD:18760 | Dysmorphism-pectus carinatum-joint laxity syndrome | -| GARD:18764 | Dysmorphism-short stature-deafness-disorder of sex development syndrome | -| GARD:2012 | Dysosteosclerosis | -| GARD:21571 | Dysostosis | -| GARD:21725 | Dysostosis of genetic origin | -| GARD:21726 | Dysostosis of genetic origin with limb anomaly as a major feature | -| GARD:18895 | Dysostosis with brachydactyly | -| GARD:22023 | Dysostosis with brachydactyly with extraskeletal manifestations | -| GARD:22022 | Dysostosis with brachydactyly without extraskeletal manifestations | -| GARD:21187 | Dysostosis with combined reduction defects of upper and lower limbs | -| GARD:21573 | Dysostosis with limb and face anomalies as a major feature | -| GARD:21572 | Dysostosis with limb anomaly as a major feature | -| GARD:19207 | Dysostosis with predominant craniofacial involvement | -| GARD:19208 | Dysostosis with predominant vertebral and costal involvement | -| GARD:2016 | Dysostosis, Stanescu type | -| GARD:19641 | Dysphagia lusoria | -| GARD:2019 | Dysplasia epiphysealis hemimelica | -| GARD:20098 | Dysplasia of head of femur, Meyer type | -| GARD:2022 | Dysplastic cortical hyperostosis | -| GARD:3438 | Dysraphism-cleft lip/palate-limb reduction defects syndrome | -| GARD:9810 | Dyssegmental dysplasia, Rolland-Desbuquois type | -| GARD:2026 | Dyssegmental dysplasia, Silverman-Handmaker type | -| GARD:19051 | Dysspondyloenchondromatosis | -| GARD:15061 | Dystonia 1, torsion, autosomal dominant | -| GARD:18616 | Dystonia 11, myoclonic | -| GARD:10539 | Dystonia 16 | -| GARD:16103 | Dystonia 26, myoclonic | -| GARD:22359 | Dystonia 28 | -| GARD:21739 | Dystonia-aphonia syndrome | -| GARD:17958 | Dystonia-parkinsonism-hypermanganesemia syndrome | -| GARD:2150 | Dystrophic epidermolysis bullosa | -| GARD:16779 | Dystrophic epidermolysis bullosa pruriginosa | -| GARD:10514 | EAST syndrome | -| GARD:17349 | EDICT syndrome | -| GARD:2076 | EEC syndrome | -| GARD:19512 | EEC syndrome and related disorders | -| GARD:2078 | EEM syndrome | -| GARD:22485 | EGF-related primary hypomagnesemia with intellectual disability | -| GARD:21994 | EMILIN-1-related connective tissue disease | -| GARD:18027 | EN1-related dorsoventral syndrome | -| GARD:22302 | EPHB4-related lymphatic-related hydrops fetalis | -| GARD:17913 | EVEN-plus syndrome | -| GARD:6309 | Eales disease | -| GARD:2033 | Ear-patella-short stature syndrome | -| GARD:9255 | Early infantile epileptic encephalopathy | -| GARD:16581 | Early myoclonic encephalopathy | -| GARD:17482 | Early-onset Lafora body disease | -| GARD:10199 | Early-onset X-linked optic atrophy | -| GARD:1140 | Early-onset anterior polar cataract | -| GARD:19487 | Early-onset ataxia with dementia | -| GARD:22465 | Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome | -| GARD:12798 | Early-onset autosomal dominant Alzheimer disease | -| GARD:22246 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | -| GARD:2600 | Early-onset cerebellar ataxia with retained tendon reflexes | -| GARD:17897 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | -| GARD:21134 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | -| GARD:17687 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | -| GARD:22243 | Early-onset familial hypoaldosteronism | -| GARD:2027 | Early-onset generalized limb-onset dystonia | -| GARD:13155 | Early-onset lamellar cataract | -| GARD:17324 | Early-onset myopathy with fatal cardiomyopathy | -| GARD:12199 | Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome | -| GARD:16801 | Early-onset non-syndromic cataract | -| GARD:16887 | Early-onset nuclear cataract | -| GARD:19685 | Early-onset obesity-hyperphagia-severe developmental delay syndrome | -| GARD:3203 | Early-onset parkinsonism-intellectual disability syndrome | -| GARD:16888 | Early-onset partial cataract | -| GARD:16889 | Early-onset posterior polar cataract | -| GARD:21846 | Early-onset posterior subcapsular cataract | -| GARD:17911 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | -| GARD:2995 | Early-onset progressive encephalopathy with migrant continuous myoclonus | -| GARD:17923 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | -| GARD:17914 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | -| GARD:17523 | Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | -| GARD:19352 | Early-onset schizophrenia | -| GARD:17942 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | -| GARD:17409 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | -| GARD:16885 | Early-onset sutural cataract | -| GARD:1898 | Early-onset zonular cataract | -| GARD:17613 | East Texas bleeding disorder | -| GARD:10821 | Eastern equine encephalitis | -| GARD:20078 | Eating reflex epilepsy | -| GARD:2035 | Ebola hemorrhagic fever | -| GARD:6313 | Ebstein malformation of the tricuspid valve | -| GARD:19650 | Ectasia of the left atrial appendage | -| GARD:19649 | Ectasia of the right atrial appendage | -| GARD:18591 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | -| GARD:15163 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | -| GARD:18592 | Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant | -| GARD:15885 | Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive | -| GARD:18593 | Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | -| GARD:16361 | Ectodermal dysplasia 15, hypohidrotic/hair type | -| GARD:18062 | Ectodermal dysplasia 4, hair/nail type | -| GARD:18063 | Ectodermal dysplasia 5, hair/nail type | -| GARD:18064 | Ectodermal dysplasia 6, hair/nail type | -| GARD:18065 | Ectodermal dysplasia 7, hair/nail type | -| GARD:18066 | Ectodermal dysplasia 9, hair/nail type | -| GARD:15542 | Ectodermal dysplasia and immunodeficiency 2 | -| GARD:6317 | Ectodermal dysplasia syndrome | -| GARD:10526 | Ectodermal dysplasia with natal teeth, Turnpenny type | -| GARD:2055 | Ectodermal dysplasia, trichoodontoonychial type | -| GARD:2045 | Ectodermal dysplasia-blindness syndrome | -| GARD:17199 | Ectodermal dysplasia-cutaneous syndactyly syndrome | -| GARD:16578 | Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome | -| GARD:9723 | Ectodermal dysplasia-sensorineural deafness syndrome | -| GARD:9705 | Ectodermal dysplasia-skin fragility syndrome | -| GARD:17198 | Ectodermal dysplasia-syndactyly syndrome | -| GARD:21877 | Ectopia cordis | -| GARD:15062 | Ectopia lentis 1, isolated, autosomal dominant | -| GARD:2060 | Ectopia lentis 2, isolated, autosomal recessive | -| GARD:15164 | Ectopia lentis et pupillae | -| GARD:3999 | Ectopia lentis-chorioretinal dystrophy-myopia syndrome | -| GARD:20622 | Ectopic aldosterone-producing tumor | -| GARD:22030 | Ectrodactyly with and without other manifestations | -| GARD:15063 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 | -| GARD:2068 | Ectrodactyly-polydactyly syndrome | -| GARD:2074 | Edinburgh malformation syndrome | -| GARD:6322 | Ehlers-Danlos syndrome | -| GARD:17156 | Ehlers-Danlos/osteogenesis imperfecta syndrome | -| GARD:16256 | Ehlers-danlos syndrome, arthrochalasia type, 2 | -| GARD:15982 | Ehlers-danlos syndrome, musculocontractural type, 2 | -| GARD:16209 | Ehlers-danlos syndrome, periodontal type, 2 | -| GARD:15947 | Ehlers-danlos syndrome, spondylodysplastic type, 2 | -| GARD:2092 | Ehrlichiosis | -| GARD:16698 | Eiken syndrome | -| GARD:6323 | Eisenmenger syndrome | -| GARD:12716 | Elastoderma | -| GARD:20580 | Elastofibroma dorsi | -| GARD:20582 | Elastoma | -| GARD:10103 | Elastosis perforans serpiginosa | -| GARD:15528 | Elliptocytosis 1 | -| GARD:15064 | Elliptocytosis 2 | -| GARD:16273 | Elliptocytosis 3 | -| GARD:1301 | Ellis Van Creveld syndrome | -| GARD:9835 | Emanuel syndrome | -| GARD:5140 | Embryonal carcinoma | -| GARD:18836 | Embryonal carcinoma of the central nervous system | -| GARD:4702 | Embryonal rhabdomyosarcoma | -| GARD:20716 | Embryonal tumor of neuroepithelial tissue | -| GARD:6329 | Emery-Dreifuss muscular dystrophy | -| GARD:2593 | Emery-Nelson syndrome | -| GARD:10230 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | -| GARD:18209 | Emery-dreifuss muscular dystrophy 3, autosomal recessive | -| GARD:18206 | Emery-dreifuss muscular dystrophy 4, autosomal dominant | -| GARD:18207 | Emery-dreifuss muscular dystrophy 5, autosomal dominant | -| GARD:18208 | Emery-dreifuss muscular dystrophy 7, autosomal dominant | -| GARD:646 | Enamel-renal syndrome | -| GARD:19357 | Encephalitis | -| GARD:6332 | Encephalitis lethargica | -| GARD:20987 | Encephaloclastic disorder | -| GARD:2108 | Encephalocraniocutaneous lipomatosis | -| GARD:22192 | Encephalopathy due to mitochondrial and peroxisomal fission defect | -| GARD:12505 | Encephalopathy due to prosaposin deficiency | -| GARD:16549 | Encephalopathy due to sulfite oxidase deficiency | -| GARD:15853 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 | -| GARD:15854 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 | -| GARD:16131 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | -| GARD:16267 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | -| GARD:18384 | Encephalopathy, acute, infection-induced, susceptibility to, 4 | -| GARD:17470 | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | -| GARD:19635 | Encircling double aortic arch | -| GARD:6336 | Endocardial fibroelastosis | -| GARD:17094 | Endocrine-cerebro-osteodysplasia syndrome | -| GARD:20220 | Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature | -| GARD:6339 | Endometrial stromal sarcoma | -| GARD:21893 | Endometrioid carcinoma of ovary | -| GARD:20333 | Endophthalmitis | -| GARD:390 | Endosteal hyperostosis, Worth type | -| GARD:1195 | Endosteal sclerosis-cerebellar hypoplasia syndrome | -| GARD:18561 | Endove syndrome, limb-brain type | -| GARD:18560 | Endove syndrome, limb-only type | -| GARD:20554 | Energy metabolism disorder with epilepsy | -| GARD:2123 | Eng-Strom syndrome | -| GARD:16662 | Enlarged parietal foramina | -| GARD:16729 | Enteric anendocrinosis | -| GARD:9809 | Enteropathy-associated T-cell lymphoma | -| GARD:10969 | Enthesitis-related juvenile idiopathic arthritis | -| GARD:21886 | Eosinophilic angiocentric fibrosis | -| GARD:21715 | Eosinophilic colitis | -| GARD:6351 | Eosinophilic fasciitis | -| GARD:9142 | Eosinophilic gastroenteritis | -| GARD:6111 | Eosinophilic granulomatosis with polyangiitis | -| GARD:16527 | Ependymal tumor | -| GARD:20720 | Ependymoblastoma | -| GARD:6353 | Ependymoma | -| GARD:19671 | Epiblepharon | -| GARD:20625 | Epibulbar lipodermoid-preauricular appendage-polythelia syndrome | -| GARD:19032 | Epidemic typhus | -| GARD:18993 | Epidermal appendage anomaly | -| GARD:18984 | Epidermal disease | -| GARD:18813 | Epidermal nevus syndrome | -| GARD:6357 | Epidermodysplasia verruciformis | -| GARD:16334 | Epidermodysplasia verruciformis, susceptibility to, 3 | -| GARD:16337 | Epidermodysplasia verruciformis, susceptibility to, 5 | -| GARD:15291 | Epidermodysplasia verruciformis, x-linked | -| GARD:6360 | Epidermolysis bullosa acquisita | -| GARD:10752 | Epidermolysis bullosa simplex | -| GARD:17690 | Epidermolysis bullosa simplex due to BP230 deficiency | -| GARD:17691 | Epidermolysis bullosa simplex due to exophilin 5 deficiency | -| GARD:18766 | Epidermolysis bullosa simplex with anodontia/hypodontia | -| GARD:16990 | Epidermolysis bullosa simplex with circinate migratory erythema | -| GARD:22387 | Epidermolysis bullosa simplex with extracutaneous involvement | -| GARD:9737 | Epidermolysis bullosa simplex with mottled pigmentation | -| GARD:2137 | Epidermolysis bullosa simplex with muscular dystrophy | -| GARD:16991 | Epidermolysis bullosa simplex with pyloric atresia | -| GARD:22386 | Epidermolysis bullosa simplex without extracutaneous involvement | -| GARD:22016 | Epidermolytic nevus | -| GARD:2826 | Epidermolytic palmoplantar keratoderma | -| GARD:19943 | Epignathus | -| GARD:21277 | Epilepsy and/or ataxia with myoclonus as a major feature | -| GARD:20083 | Epilepsy syndrome | -| GARD:19087 | Epilepsy with myoclonic absences | -| GARD:18057 | Epilepsy, childhood absence, susceptibility to, 1 | -| GARD:18061 | Epilepsy, childhood absence, susceptibility to, 5 | -| GARD:18060 | Epilepsy, childhood absence, susceptibility to, 6 | -| GARD:18082 | Epilepsy, familial adult myoclonic, 1 | -| GARD:18083 | Epilepsy, familial adult myoclonic, 2 | -| GARD:18084 | Epilepsy, familial adult myoclonic, 3 | -| GARD:18085 | Epilepsy, familial adult myoclonic, 4 | -| GARD:18086 | Epilepsy, familial adult myoclonic, 5 | -| GARD:18202 | Epilepsy, familial focal, with variable foci 1 | -| GARD:18203 | Epilepsy, familial focal, with variable foci 2 | -| GARD:18204 | Epilepsy, familial focal, with variable foci 3 | -| GARD:18279 | Epilepsy, familial temporal lobe, 3 | -| GARD:15523 | Epilepsy, familial temporal lobe, 4 | -| GARD:18280 | Epilepsy, familial temporal lobe, 5 | -| GARD:18281 | Epilepsy, familial temporal lobe, 6 | -| GARD:16112 | Epilepsy, familial temporal lobe, 7 | -| GARD:16116 | Epilepsy, familial temporal lobe, 8 | -| GARD:18286 | Epilepsy, hot water, 1 | -| GARD:18287 | Epilepsy, hot water, 2 | -| GARD:18059 | Epilepsy, idiopathic generalized, susceptibility to, 13 | -| GARD:16269 | Epilepsy, juvenile myoclonic, susceptibility to, 10 | -| GARD:15784 | Epilepsy, juvenile myoclonic, susceptibility to, 9 | -| GARD:15319 | Epilepsy, nocturnal frontal lobe, 1 | -| GARD:15352 | Epilepsy, nocturnal frontal lobe, 2 | -| GARD:15380 | Epilepsy, nocturnal frontal lobe, 3 | -| GARD:15481 | Epilepsy, nocturnal frontal lobe, 4 | -| GARD:15891 | Epilepsy, nocturnal frontal lobe, 5 | -| GARD:15556 | Epilepsy, progressive myoclonic, 1b | -| GARD:836 | Epilepsy-microcephaly-skeletal dysplasia syndrome | -| GARD:2168 | Epilepsy-telangiectasia syndrome | -| GARD:17532 | Epileptic encephalopathy with global cerebral demyelination | -| GARD:9791 | Epiphyseal dysplasia, multiple, 2 | -| GARD:9792 | Epiphyseal dysplasia, multiple, 3 | -| GARD:13376 | Epiphyseal dysplasia, multiple, 6 | -| GARD:2178 | Epiphyseal dysplasia-hearing loss-dysmorphism syndrome | -| GARD:4189 | Epiphyseal stippling-osteoclastic hyperplasia syndrome | -| GARD:21666 | Epiphysiolysis of the hip | -| GARD:16641 | Episodic ataxia type 1 | -| GARD:16702 | Episodic ataxia type 3 | -| GARD:16703 | Episodic ataxia type 4 | -| GARD:17113 | Episodic ataxia type 5 | -| GARD:17107 | Episodic ataxia type 6 | -| GARD:17108 | Episodic ataxia type 7 | -| GARD:17665 | Episodic ataxia with slurred speech | -| GARD:15506 | Episodic kinesigenic dyskinesia 2 | -| GARD:18440 | Episodic pain syndrome, familial, 2 | -| GARD:9732 | Epithelial basement membrane dystrophy | -| GARD:17338 | Epithelial recurrent erosion dystrophy | -| GARD:21771 | Epithelial tumor of anal canal | -| GARD:21766 | Epithelial tumor of the appendix | -| GARD:20014 | Epithelioid hemangioendothelioma | -| GARD:10181 | Epithelioid sarcoma | -| GARD:20750 | Epithelioid trophoblastic tumor | -| GARD:21148 | Epstein-Barr Virus-associated carcinoma | -| GARD:21149 | Epstein-Barr Virus-associated mesenchymal tumor | -| GARD:21146 | Epstein-Barr Virus-related tumor | -| GARD:21362 | Epstein-Barr virus-associated gastric carcinoma | -| GARD:21147 | Epstein-Barr virus-associated malignant lymphoproliferative disorder | -| GARD:21150 | Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly | -| GARD:6369 | Erdheim-Chester disease | -| GARD:407 | Ermine phenotype | -| GARD:2188 | Erosive pustular dermatosis of the scalp | -| GARD:8653 | Erythema elevatum diutinum | -| GARD:22049 | Erythema multiforme major | -| GARD:17157 | Erythema palmare hereditarium | -| GARD:17392 | Erythrocyte galactose epimerase deficiency | -| GARD:18355 | Erythrocytosis, familial, 3 | -| GARD:18356 | Erythrocytosis, familial, 4 | -| GARD:6878 | Erythroderma desquamativum | -| GARD:18986 | Erythrokeratoderma | -| GARD:1722 | Erythrokeratoderma ''en cocardes'' | -| GARD:10923 | Erythrokeratoderma variabilis progressiva | -| GARD:16528 | Erythrokeratodermia variabilis | -| GARD:18588 | Erythrokeratodermia variabilis et progressiva 2 | -| GARD:18589 | Erythrokeratodermia variabilis et progressiva 3 | -| GARD:18590 | Erythrokeratodermia variabilis et progressiva 4 | -| GARD:18669 | Erythrokeratodermia variabilis et progressiva 5 | -| GARD:18672 | Erythrokeratodermia variabilis et progressiva 6 | -| GARD:18674 | Erythrokeratodermia variabilis et progressiva 7 | -| GARD:21950 | Erythrokeratodermia-cardiomyopathy syndrome | -| GARD:15066 | Erythroleukemia, familial, susceptibility to | -| GARD:10948 | Erythropoietic uroporphyria associated with myeloid malignancy | -| GARD:6381 | Esophageal atresia | -| GARD:19744 | Esophageal duplication cyst | -| GARD:19095 | Esophageal malformation | -| GARD:6471 | Essential fructosuria | -| GARD:19611 | Essential iris atrophy | -| GARD:6594 | Essential thrombocythemia | -| GARD:2197 | Esthesioneuroblastoma | -| GARD:16548 | Estrogen resistance syndrome | -| GARD:18805 | Ethylene glycol poisoning | -| GARD:2198 | Ethylmalonic encephalopathy | -| GARD:19674 | Euryblepharon | -| GARD:21940 | Euthyroid Graves orbitopathy | -| GARD:22401 | Euthyroid dysprealbuminemic hyperthyroxinemia | -| GARD:6389 | Evans syndrome | -| GARD:20193 | Excess breast volume or number | -| GARD:20765 | Exercise intolerance with lactic acidosis | -| GARD:9932 | Exercise-induced hyperinsulinism | -| GARD:21936 | Exercise-induced malignant hyperthermia | -| GARD:17329 | Exfoliative ichthyosis | -| GARD:2204 | Exostoses, multiple, type i | -| GARD:2205 | Exostoses, multiple, type ii | -| GARD:2206 | Exostoses, multiple, type iii | -| GARD:2202 | Exostoses-anetodermia-brachydactyly type E syndrome | -| GARD:20943 | Exposure-related interstitial lung disease | -| GARD:2207 | Exstrophy-epispadias complex | -| GARD:21842 | Extensive peripapillary myelinated nerve fibers | -| GARD:2597 | Extensor tendons of finger anomalies | -| GARD:16969 | External auditory canal aplasia/hypoplasia | -| GARD:4638 | External auditory canal atresia-vertical talus-hypertelorism syndrome | -| GARD:22003 | Extracranial carotid artery aneurysm | -| GARD:18871 | Extracutaneous mastocytoma | -| GARD:9325 | Extragonadal germ cell tumor | -| GARD:2005 | Extragonadal germinoma | -| GARD:19706 | Extragonadal non-dysgerminomatous germ cell tumor | -| GARD:18711 | Extragonadal teratoma | -| GARD:21091 | Extralobar congenital pulmonary sequestration | -| GARD:4192 | Extramammary Paget disease | -| GARD:19740 | Extramedullary soft tissue plasmacytoma | -| GARD:19730 | Extraneural perineurioma | -| GARD:7041 | Extranodal nasal NK/T cell lymphoma | -| GARD:19886 | Extrapelvic endometriosis | -| GARD:17600 | Extraskeletal Ewing sarcoma | -| GARD:17105 | Extraskeletal myxoid chondrosarcoma | -| GARD:2213 | Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome | -| GARD:20727 | Extraventricular neurocytoma | -| GARD:15068 | Exudative vitreoretinopathy 1 | -| GARD:15292 | Exudative vitreoretinopathy 2, x-linked | -| GARD:15386 | Exudative vitreoretinopathy 3 | -| GARD:15337 | Exudative vitreoretinopathy 4 | -| GARD:15646 | Exudative vitreoretinopathy 5 | -| GARD:16118 | Exudative vitreoretinopathy 6 | -| GARD:16238 | Exudative vitreoretinopathy 7 | -| GARD:10054 | Eye defects-arachnodactyly-cardiopathy syndrome | -| GARD:2216 | Eyebrow duplication-syndactyly syndrome | -| GARD:19498 | Eyelid border anomaly | -| GARD:22454 | F12-associated cold autoinflammatory syndrome | -| GARD:16935 | F12-related hereditary angioedema with normal C1Inh | -| GARD:15004 | FADD-related immunodeficiency | -| GARD:17026 | FASTKD2-related infantile mitochondrial encephalomyopathy | -| GARD:2622 | FATCO syndrome | -| GARD:21717 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | -| GARD:2317 | FG syndrome type 1 | -| GARD:10965 | FGFR2-related bent bone dysplasia | -| GARD:19185 | FGFR3-related chondrodysplasia | -| GARD:12533 | FKRP-related limb-girdle muscular dystrophy R9 | -| GARD:1096 | FLNA-related X-linked myxomatous valvular dysplasia | -| GARD:2346 | FLOTCH syndrome | -| GARD:12825 | FOXG1 syndrome | -| GARD:20771 | FOXG1 syndrome due to 14q12 microdeletion | -| GARD:22402 | FOXG1 syndrome due to intragenic alteration | -| GARD:2378 | FRAXE intellectual disability | -| GARD:19769 | FRAXF syndrome | -| GARD:13472 | FTH1-related iron overload | -| GARD:6400 | Fabry disease | -| GARD:12663 | Facial arteriovenous malformation | -| GARD:19964 | Facial cleft | -| GARD:19938 | Facial dermoid cyst | -| GARD:21984 | Facial diplegia with paresthesias | -| GARD:2221 | Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome | -| GARD:17311 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | -| GARD:17839 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | -| GARD:18019 | Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome | -| GARD:17528 | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | -| GARD:17688 | Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | -| GARD:2222 | Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome | -| GARD:17422 | Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome | -| GARD:4778 | Facial dysmorphism-shawl scrotum-joint laxity syndrome | -| GARD:12036 | Facial onset sensory and motor neuronopathy | -| GARD:18436 | Facial paresis, hereditary congenital, 2 | -| GARD:18437 | Facial paresis, hereditary congenital, 3 | -| GARD:2230 | Faciocardiorenal syndrome | -| GARD:9941 | Facioscapulohumeral dystrophy | -| GARD:15087 | Facioscapulohumeral muscular dystrophy 1 | -| GARD:15088 | Facioscapulohumeral muscular dystrophy 2, digenic | -| GARD:22414 | Factor V Amsterdam bleeding disorder | -| GARD:22415 | Factor V Atlanta bleeding disorder | -| GARD:22413 | Factor V short isoforms-related bleeding disorder | -| GARD:18630 | Factor v and factor viii, combined deficiency of, 1 | -| GARD:18632 | Factor v and factor viii, combined deficiency of, 2 | -| GARD:18631 | Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor | -| GARD:15633 | Factor xiii, a subunit, deficiency of | -| GARD:15635 | Factor xiii, b subunit, deficiency of | -| GARD:893 | Fallot complex-intellectual disability-growth delay syndrome | -| GARD:21084 | Familial Alzheimer-like prion disease | -| GARD:17874 | Familial Chilblain lupus | -| GARD:17973 | Familial GPIHBP1 deficiency | -| GARD:4011 | Familial LCAT deficiency | -| GARD:6421 | Familial Mediterranean fever | -| GARD:7610 | Familial Scheuermann disease | -| GARD:9181 | Familial abdominal aortic aneurysm | -| GARD:13232 | Familial acute necrotizing encephalopathy | -| GARD:6408 | Familial adenomatous polyposis | -| GARD:20786 | Familial adenomatous polyposis due to 5q22.2 microdeletion | -| GARD:16839 | Familial adrenal hypoplasia with absent pituitary luteinizing hormone | -| GARD:9242 | Familial advanced sleep-phase syndrome | -| GARD:5761 | Familial afibrinogenemia | -| GARD:20585 | Familial anetoderma | -| GARD:17089 | Familial angiolipomatosis | -| GARD:1654 | Familial aortic dissection | -| GARD:6704 | Familial apolipoprotein A5 deficiency | -| GARD:759 | Familial apolipoprotein C-II deficiency | -| GARD:3054 | Familial articular hypermobility syndrome | -| GARD:9740 | Familial atrial fibrillation | -| GARD:139 | Familial atrial myxoma | -| GARD:17729 | Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease | -| GARD:9281 | Familial atypical multiple mole melanoma syndrome | -| GARD:10914 | Familial avascular necrosis of femoral head | -| GARD:6559 | Familial benign chronic pemphigus | -| GARD:1522 | Familial benign copper deficiency | -| GARD:18651 | Familial benign flecked retina | -| GARD:17670 | Familial bicuspid aortic valve | -| GARD:1292 | Familial calcium pyrophosphate deposition | -| GARD:215 | Familial caudal dysgenesis | -| GARD:17822 | Familial cavitary optic disc anomaly | -| GARD:13641 | Familial cerebral cavernous malformation | -| GARD:17161 | Familial cerebral saccular aneurysm | -| GARD:18823 | Familial cervical artery dissection | -| GARD:6414 | Familial chylomicronemia syndrome | -| GARD:17177 | Familial clubfoot due to 17q23.1q23.2 microduplication | -| GARD:17336 | Familial clubfoot due to 5q31 microdeletion | -| GARD:17337 | Familial clubfoot due to PITX1 point mutation | -| GARD:17093 | Familial clubfoot with or without associated lower limb anomalies | -| GARD:15051 | Familial cold autoinflammatory syndrome 1 | -| GARD:16061 | Familial cold autoinflammatory syndrome 4 | -| GARD:9535 | Familial cold urticaria | -| GARD:21840 | Familial colorectal cancer Type X | -| GARD:12551 | Familial congenital mirror movements | -| GARD:17784 | Familial congenital nasolacrimal duct obstruction | -| GARD:10355 | Familial congenital palsy of trochlear nerve | -| GARD:17444 | Familial cortical myoclonus | -| GARD:9799 | Familial cutaneous collagenoma | -| GARD:17413 | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome | -| GARD:9707 | Familial cylindromatosis | -| GARD:1823 | Familial developmental dysphasia | -| GARD:16735 | Familial digital arthropathy-brachydactyly | -| GARD:20525 | Familial dilated cardiomyopathy | -| GARD:18615 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | -| GARD:1912 | Familial drusen | -| GARD:7581 | Familial dysautonomia | -| GARD:2004 | Familial dysfibrinogenemia | -| GARD:12722 | Familial dyskinesia and facial myokymia | -| GARD:10037 | Familial encephalopathy with neuroserpin inclusion bodies | -| GARD:12684 | Familial episodic pain syndrome | -| GARD:17619 | Familial episodic pain syndrome with predominantly lower limb involvement | -| GARD:17618 | Familial episodic pain syndrome with predominantly upper body involvement | -| GARD:9168 | Familial expansile osteolysis | -| GARD:1613 | Familial exudative vitreoretinopathy | -| GARD:13295 | Familial focal epilepsy with variable foci | -| GARD:21932 | Familial gastric type 1 neuroendocrine tumor | -| GARD:17158 | Familial generalized lentiginosis | -| GARD:16913 | Familial gestational hyperthyroidism | -| GARD:2498 | Familial glucocorticoid deficiency | -| GARD:6589 | Familial hemophagocytic lymphohistiocytosis | -| GARD:20630 | Familial hyperaldosteronism | -| GARD:2790 | Familial hyperaldosteronism type I | -| GARD:2789 | Familial hyperaldosteronism type II | -| GARD:12362 | Familial hyperaldosteronism type III | -| GARD:17173 | Familial hypercholanemia | -| GARD:22466 | Familial hyperinflammatory lymphoproliferative immunodeficiency | -| GARD:21053 | Familial hyperinsulinism | -| GARD:10879 | Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome | -| GARD:17634 | Familial hyperprolactinemia | -| GARD:2858 | Familial hyperthyroidism due to mutations in TSH receptor | -| GARD:16532 | Familial hypoaldosteronism | -| GARD:10828 | Familial hypocalciuric hypercalcemia | -| GARD:2796 | Familial hypocalciuric hypercalcemia type 1 | -| GARD:9758 | Familial hypocalciuric hypercalcemia type 2 | -| GARD:2878 | Familial hypocalciuric hypercalcemia type 3 | -| GARD:17202 | Familial hypodysfibrinogenemia | -| GARD:2887 | Familial hypofibrinogenemia | -| GARD:18735 | Familial idiopathic dilatation of the right atrium | -| GARD:17141 | Familial infantile bilateral striatal necrosis | -| GARD:17521 | Familial infantile myoclonic epilepsy | -| GARD:22067 | Familial intestinal malrotation | -| GARD:21119 | Familial intrahepatic cholestasis | -| GARD:17129 | Familial isolated arrhythmogenic right ventricular dysplasia | -| GARD:17346 | Familial isolated arrhythmogenic ventricular dysplasia, biventricular form | -| GARD:17345 | Familial isolated arrhythmogenic ventricular dysplasia, left dominant form | -| GARD:17347 | Familial isolated arrhythmogenic ventricular dysplasia, right dominant form | -| GARD:21202 | Familial isolated clinodactyly of fingers | -| GARD:16944 | Familial isolated congenital asplenia | -| GARD:2905 | Familial isolated dilated cardiomyopathy | -| GARD:16923 | Familial isolated hyperparathyroidism | -| GARD:2910 | Familial isolated hypoparathyroidism | -| GARD:16589 | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | -| GARD:17088 | Familial isolated hypoparathyroidism due to impaired PTH secretion | -| GARD:10959 | Familial isolated pituitary adenoma | -| GARD:16692 | Familial isolated restrictive cardiomyopathy | -| GARD:13167 | Familial isolated trichomegaly | -| GARD:9450 | Familial juvenile hypertrophy of the breast | -| GARD:18693 | Familial keratoacanthoma | -| GARD:10244 | Familial lipase maturation factor 1 deficiency | -| GARD:12241 | Familial lipoprotein lipase deficiency | -| GARD:16547 | Familial long QT syndrome | -| GARD:4475 | Familial male-limited precocious puberty | -| GARD:17663 | Familial median cleft of the upper and lower lips | -| GARD:15069 | Familial mediterranean fever, autosomal dominant | -| GARD:16901 | Familial medullary thyroid carcinoma | -| GARD:3460 | Familial melanoma | -| GARD:17011 | Familial mesial temporal lobe epilepsy with febrile seizures | -| GARD:3687 | Familial mitral valve prolapse | -| GARD:3765 | Familial monosomy 7 syndrome | -| GARD:17278 | Familial multinodular goiter | -| GARD:8479 | Familial multiple discoid fibromas | -| GARD:12925 | Familial multiple lipomatosis | -| GARD:17260 | Familial multiple meningioma | -| GARD:3986 | Familial multiple nevi flammei | -| GARD:10867 | Familial multiple trichoepithelioma | -| GARD:2254 | Familial nasal acilia | -| GARD:21421 | Familial nonmedullary thyroid carcinoma | -| GARD:10878 | Familial normophosphatemic tumoral calcinosis | -| GARD:21086 | Familial omphalocele syndrome with facial dysmorphism | -| GARD:10768 | Familial or sporadic hemiplegic migraine | -| GARD:17713 | Familial ossifying fibroma | -| GARD:4133 | Familial osteochondritis dissecans | -| GARD:4136 | Familial osteodysplasia, Anderson type | -| GARD:20467 | Familial ovarian cancer | -| GARD:4206 | Familial pancreatic carcinoma | -| GARD:8488 | Familial papillary or follicular thyroid carcinoma | -| GARD:16853 | Familial papillary thyroid carcinoma with renal papillary neoplasia | -| GARD:9602 | Familial paroxysmal ataxia | -| GARD:2173 | Familial partial epilepsy | -| GARD:11962 | Familial partial lipodystrophy | -| GARD:3126 | Familial partial lipodystrophy, Dunnigan type | -| GARD:12598 | Familial partial lipodystrophy, Köbberling type | -| GARD:17828 | Familial patent arterial duct | -| GARD:10352 | Familial platelet disorder with associated myeloid malignancy | -| GARD:2258 | Familial porencephaly | -| GARD:17750 | Familial porphyria cutanea tarda | -| GARD:2837 | Familial primary hyperparathyroidism | -| GARD:17533 | Familial primary localized cutaneous amyloidosis | -| GARD:10005 | Familial progressive cardiac conduction defect | -| GARD:17298 | Familial progressive hyper- and hypopigmentation | -| GARD:16706 | Familial progressive hyperpigmentation | -| GARD:17888 | Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome | -| GARD:4520 | Familial prostate cancer | -| GARD:16785 | Familial pseudohyperkalemia | -| GARD:4569 | Familial pterygium of the conjunctiva | -| GARD:13331 | Familial reactive perforating collagenosis | -| GARD:16609 | Familial recurrent peripheral facial palsy | -| GARD:7548 | Familial renal glucosuria | -| GARD:20532 | Familial restrictive cardiomyopathy | -| GARD:12779 | Familial retinal arterial macroaneurysm | -| GARD:17159 | Familial rhabdoid tumor | -| GARD:20113 | Familial scaphocephaly syndrome | -| GARD:3426 | Familial scaphocephaly syndrome, McGillivray type | -| GARD:17876 | Familial schizencephaly | -| GARD:16650 | Familial short QT syndrome | -| GARD:13663 | Familial sick sinus syndrome | -| GARD:4997 | Familial spontaneous pneumothorax | -| GARD:13818 | Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | -| GARD:17295 | Familial steroid-resistant nephrotic syndrome with sensorineural deafness | -| GARD:2259 | Familial supernumerary nipples | -| GARD:21589 | Familial syringomyelia | -| GARD:5135 | Familial temporal lobe epilepsy | -| GARD:2249 | Familial thoracic aortic aneurysm and aortic dissection | -| GARD:16688 | Familial thrombocytosis | -| GARD:5195 | Familial thrombomodulin anomalies | -| GARD:5204 | Familial thyroglossal duct cyst | -| GARD:16843 | Familial thyroid dyshormonogenesis | -| GARD:10877 | Familial tumoral calcinosis | -| GARD:17323 | Familial vesicoureteral reflux | -| GARD:3443 | Familial visceral myopathy | -| GARD:6425 | Fanconi anemia | -| GARD:15170 | Fanconi anemia, complementation group a | -| GARD:15257 | Fanconi anemia, complementation group b | -| GARD:15168 | Fanconi anemia, complementation group c | -| GARD:15169 | Fanconi anemia, complementation group d2 | -| GARD:15324 | Fanconi anemia, complementation group e | -| GARD:15355 | Fanconi anemia, complementation group f | -| GARD:15753 | Fanconi anemia, complementation group g | -| GARD:15448 | Fanconi anemia, complementation group i | -| GARD:15449 | Fanconi anemia, complementation group j | -| GARD:15754 | Fanconi anemia, complementation group l | -| GARD:15500 | Fanconi anemia, complementation group n | -| GARD:15656 | Fanconi anemia, complementation group o | -| GARD:15731 | Fanconi anemia, complementation group p | -| GARD:15934 | Fanconi anemia, complementation group q | -| GARD:16214 | Fanconi anemia, complementation group r | -| GARD:16264 | Fanconi anemia, complementation group s | -| GARD:16111 | Fanconi anemia, complementation group t | -| GARD:16215 | Fanconi anemia, complementation group u | -| GARD:16213 | Fanconi anemia, complementation group v | -| GARD:15655 | Fanconi renotubular syndrome 2 | -| GARD:15991 | Fanconi renotubular syndrome 3 | -| GARD:16048 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | -| GARD:16392 | Fanconi renotubular syndrome 5 | -| GARD:2268 | Fanconi-Bickel syndrome | -| GARD:6426 | Farber disease | -| GARD:6427 | Farmer's lung disease | -| GARD:15171 | Fascial dystrophy, congenital | -| GARD:10728 | Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | -| GARD:6429 | Fatal familial insomnia | -| GARD:16569 | Fatal infantile cytochrome C oxidase deficiency | -| GARD:17296 | Fatal infantile hypertonic myofibrillar myopathy | -| GARD:3163 | Fatal infantile lactic acidosis with methylmalonic aciduria | -| GARD:17035 | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | -| GARD:21620 | Fatal post-viral neurodegenerative disorder | -| GARD:10810 | Fatty acid hydroxylase-associated neurodegeneration | -| GARD:20528 | Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy | -| GARD:20522 | Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy | -| GARD:13319 | Fatty acyl-CoA reductase 1 deficiency | -| GARD:11005 | Febrile infection-related epilepsy syndrome | -| GARD:18283 | Febrile seizures, familial, 11 | -| GARD:18058 | Febrile seizures, familial, 8 | -| GARD:8407 | Feingold syndrome | -| GARD:17624 | Feingold syndrome type 1 | -| GARD:17625 | Feingold syndrome type 2 | -| GARD:8234 | Felty syndrome | -| GARD:21694 | Female infertility due to an implantation defect of genetic origin | -| GARD:17887 | Female infertility due to oocyte meiotic arrest | -| GARD:17675 | Female infertility due to zona pellucida defect | -| GARD:10806 | Female restricted epilepsy with intellectual disability | -| GARD:1503 | Femoral agenesis/hypoplasia | -| GARD:61 | Femoral-facial syndrome | -| GARD:2286 | Femur-fibula-ulna complex | -| GARD:21637 | Ferro-cerebro-cutaneous syndrome | -| GARD:10675 | Fetal Gaucher disease | -| GARD:9634 | Fetal akinesia deformation sequence | -| GARD:16495 | Fetal akinesia deformation sequence 2 | -| GARD:16496 | Fetal akinesia deformation sequence 3 | -| GARD:16497 | Fetal akinesia deformation sequence 4 | -| GARD:2293 | Fetal akinesia syndrome, x-linked | -| GARD:17553 | Fetal akinesia-cerebral and retinal hemorrhage syndrome | -| GARD:599 | Fetal alcohol syndrome | -| GARD:2295 | Fetal and neonatal alloimmune thrombocytopenia | -| GARD:21594 | Fetal anticonvulsant syndrome | -| GARD:21595 | Fetal carbamazepine syndrome | -| GARD:1480 | Fetal cytomegalovirus syndrome | -| GARD:17823 | Fetal encasement syndrome | -| GARD:18656 | Fetal hemoglobin quantitative trait locus 1 | -| GARD:18657 | Fetal hemoglobin quantitative trait locus 2 | -| GARD:18658 | Fetal hemoglobin quantitative trait locus 3 | -| GARD:6435 | Fetal hydantoin syndrome | -| GARD:2304 | Fetal iodine syndrome | -| GARD:21804 | Fetal lower urinary tract obstruction | -| GARD:21118 | Fetal lung interstitial tumor | -| GARD:3575 | Fetal methylmercury syndrome | -| GARD:2308 | Fetal minoxidil syndrome | -| GARD:4236 | Fetal parvovirus syndrome | -| GARD:18750 | Fetal trimethadione syndrome | -| GARD:5447 | Fetal valproate spectrum disorder | -| GARD:17820 | Fever-associated acute infantile liver failure syndrome | -| GARD:20708 | Fibrillary astrocytoma | -| GARD:21958 | Fibroblastic rheumatism | -| GARD:2321 | Fibrochondrogenesis | -| GARD:15815 | Fibrochondrogenesis 2 | -| GARD:6445 | Fibrodysplasia ossificans progressiva | -| GARD:22239 | Fibrohistiocytic inflammatory pseudotumor of the liver | -| GARD:21704 | Fibrolamellar hepatocellular carcinoma | -| GARD:6509 | Fibromatosis, gingival, 1 | -| GARD:2474 | Fibromatosis, gingival, 2 | -| GARD:9911 | Fibromatosis, gingival, 3 | -| GARD:2475 | Fibromatosis, gingival, 4 | -| GARD:18357 | Fibromatosis, gingival, 5 | -| GARD:15019 | Fibronectin glomerulopathy | -| GARD:2327 | Fibrosarcoma | -| GARD:5697 | Fibrosclerosis, multifocal | -| GARD:15341 | Fibrosis of extraocular muscles, congenital, 2 | -| GARD:15321 | Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | -| GARD:15459 | Fibrosis of extraocular muscles, congenital, 3c | -| GARD:18164 | Fibrosis of extraocular muscles, congenital, 5 | -| GARD:15466 | Fibrosis of extraocular muscles, congenital, with synergistic divergence | -| GARD:22487 | Fibrosis-neurodegeneration-cerebral angiomatosis syndrome | -| GARD:6444 | Fibrous dysplasia of bone | -| GARD:22384 | Fibrous dysplasia/McCune-Albright syndrome | -| GARD:9879 | Fibular aplasia-complex brachydactyly syndrome | -| GARD:2331 | Fibular aplasia-ectrodactyly syndrome | -| GARD:18746 | Fibular dimelia-diplopodia syndrome | -| GARD:8659 | Fibular hemimelia | -| GARD:320 | Fibulo-ulnar hypoplasia-renal anomalies syndrome | -| GARD:19190 | Filamin-related bone disorder | -| GARD:18757 | Filariasis | -| GARD:62 | Filippi syndrome | -| GARD:21584 | Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome | -| GARD:12720 | Fingerprint body myopathy | -| GARD:17652 | Finnish upper limb-onset distal myopathy | -| GARD:19934 | First branchial cleft anomaly | -| GARD:6450 | Fish-eye disease | -| GARD:21170 | Fixed drug eruption | -| GARD:16619 | Fixed subaortic stenosis | -| GARD:4873 | Flat face-microstomia-ear anomaly syndrome | -| GARD:16879 | Fleck corneal dystrophy | -| GARD:6455 | Floating-Harbor syndrome | -| GARD:10173 | Florid cemento-osseous dysplasia | -| GARD:2347 | Flynn-Aird syndrome | -| GARD:21299 | Focal acral hyperkeratosis | -| GARD:6457 | Focal dermal hypoplasia | -| GARD:21522 | Focal epilepsy-intellectual disability-cerebro-cerebellar malformation | -| GARD:8416 | Focal facial dermal dysplasia | -| GARD:16524 | Focal facial dermal dysplasia type I | -| GARD:17649 | Focal facial dermal dysplasia type II | -| GARD:121 | Focal facial dermal dysplasia type III | -| GARD:17650 | Focal facial dermal dysplasia type IV | -| GARD:18837 | Focal myositis | -| GARD:3098 | Focal palmoplantar and gingival keratoderma | -| GARD:21294 | Focal palmoplantar keratoderma | -| GARD:17596 | Focal palmoplantar keratoderma with joint keratoses | -| GARD:15353 | Focal segmental glomerulosclerosis 1 | -| GARD:15362 | Focal segmental glomerulosclerosis 2 | -| GARD:15422 | Focal segmental glomerulosclerosis 3, susceptibility to | -| GARD:15564 | Focal segmental glomerulosclerosis 4, susceptibility to | -| GARD:15636 | Focal segmental glomerulosclerosis 5 | -| GARD:15761 | Focal segmental glomerulosclerosis 6 | -| GARD:16045 | Focal segmental glomerulosclerosis 7 | -| GARD:16051 | Focal segmental glomerulosclerosis 8 | -| GARD:16070 | Focal segmental glomerulosclerosis 9 | -| GARD:17756 | Focal stiff limb syndrome | -| GARD:18749 | Focal, segmental or multifocal dystonia | -| GARD:4163 | Foix-Alajouanine syndrome | -| GARD:2351 | Foix-Chavany-Marie syndrome | -| GARD:18938 | Folinic acid-responsive seizures | -| GARD:21236 | Follicular cholangitis and pancreatitis | -| GARD:19081 | Follicular dendritic cell sarcoma | -| GARD:2356 | Follicular lymphoma | -| GARD:15608 | Follicular lymphoma, susceptibility to, 1 | -| GARD:20154 | Folliculotropic mycosis fungoides | -| GARD:20591 | Foodborne botulism | -| GARD:9279 | Formiminoglutamic aciduria | -| GARD:64 | Fountain syndrome | -| GARD:19936 | Fourth branchial cleft anomaly | -| GARD:17632 | Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome | -| GARD:406 | Foveal hypoplasia-presenile cataract syndrome | -| GARD:2365 | Fowler urethral sphincter dysfunction syndrome | -| GARD:17138 | Fowler vasculopaty | -| GARD:6464 | Fragile X syndrome | -| GARD:16806 | Fragile X-associated tremor/ataxia syndrome | -| GARD:5138 | Frank-Ter Haar syndrome | -| GARD:6465 | Fraser syndrome | -| GARD:2375 | Frasier syndrome | -| GARD:10870 | Free sialic acid storage disease | -| GARD:175 | Free sialic acid storage disease, infantile form | -| GARD:6466 | Freeman-Sheldon syndrome | -| GARD:16753 | Fried syndrome | -| GARD:16903 | Fried's tooth and nail syndrome | -| GARD:6468 | Friedreich ataxia | -| GARD:15340 | Friedreich ataxia 2 | -| GARD:18753 | Frontal encephalocele | -| GARD:10886 | Frontal fibrosing alopecia | -| GARD:2390 | Frontofacionasal dysplasia | -| GARD:826 | Frontometaphyseal dysplasia | -| GARD:15293 | Frontometaphyseal dysplasia 1 | -| GARD:16199 | Frontometaphyseal dysplasia 2 | -| GARD:19955 | Frontonasal arteriovenous malformation | -| GARD:2392 | Frontonasal dysplasia | -| GARD:12641 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | -| GARD:22142 | Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome | -| GARD:12640 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | -| GARD:12642 | Frontorhiny | -| GARD:19485 | Frontotemporal degeneration with dementia | -| GARD:8436 | Frontotemporal dementia | -| GARD:18396 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | -| GARD:18397 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | -| GARD:16113 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | -| GARD:18398 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | -| GARD:16427 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | -| GARD:15733 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | -| GARD:15322 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | -| GARD:18395 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 | -| GARD:17273 | Frontotemporal dementia with motor neuron disease | -| GARD:21268 | Frontotemporal neurodegeneration with movement disorder | -| GARD:2400 | Fructose-1,6-bisphosphatase deficiency | -| GARD:3699 | Fryns syndrome | -| GARD:2409 | Fryns-Smeets-Thiry syndrome | -| GARD:10018 | Fuchs endothelial corneal dystrophy | -| GARD:6791 | Fuchs heterochromic iridocyclitis | -| GARD:6473 | Fucosidosis | -| GARD:2410 | Fuhrmann syndrome | -| GARD:12538 | Fukutin-related limb-girdle muscular dystrophy R13 | -| GARD:18812 | Fulminant viral hepatitis | -| GARD:6476 | Fumaric aciduria | -| GARD:20321 | Functional neutrophil defect | -| GARD:20613 | Functional variant of Guillain-Barré syndrome | -| GARD:19158 | Functioning gonadotropic adenoma | -| GARD:22053 | Functioning neuroendocrine tumor of pancreas | -| GARD:21389 | Functioning pituitary adenoma | -| GARD:13809 | Fundus albipunctatus | -| GARD:9633 | Fundus dystrophy, pseudoinflammatory, recessive form | -| GARD:19613 | Fundus pulverulentus | -| GARD:22134 | Fungal keratitis | -| GARD:20380 | Fungal myositis | -| GARD:2418 | Furuncular myiasis | -| GARD:22260 | Furuncular myiasis due to Cordylobia anthropophaga | -| GARD:22261 | Furuncular myiasis due to Cordylobia rodhaini | -| GARD:22259 | Furuncular myiasis due to Dermatobia hominis | -| GARD:20570 | Fusariosis | -| GARD:2419 | Fused mandibular incisors | -| GARD:400 | GAPO syndrome | -| GARD:10460 | GCGR-related hyperglucagonemia | -| GARD:22299 | GJC2-related late-onset primary lymphedema | -| GARD:10891 | GM1 gangliosidosis | -| GARD:6479 | GM1 gangliosidosis type 1 | -| GARD:10126 | GM1 gangliosidosis type 2 | -| GARD:2431 | GM1 gangliosidosis type 3 | -| GARD:21323 | GM2 gangliosidosis | -| GARD:17406 | GM2 gangliosidosis, AB variant | -| GARD:12059 | GM3 synthase deficiency | -| GARD:12544 | GMPPB-related limb-girdle muscular dystrophy R19 | -| GARD:2523 | GMS syndrome | -| GARD:22369 | GNAO1-related developmental delay-seizures-movement disorder spectrum | -| GARD:17982 | GNB5-related intellectual disability-cardiac arrhythmia syndrome | -| GARD:9493 | GNE myopathy | -| GARD:1 | GRACILE syndrome | -| GARD:19356 | GRFoma | -| GARD:22356 | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder | -| GARD:2844 | GTP cyclohydrolase I deficiency | -| GARD:17947 | Gabriele-de Vries syndrome | -| GARD:19104 | Gaisböck syndrome | -| GARD:2422 | Galactokinase deficiency | -| GARD:5392 | Galactose epimerase deficiency | -| GARD:18005 | Galactose mutarotase deficiency | -| GARD:2424 | Galactosemia | -| GARD:3953 | Galactosialidosis | -| GARD:19761 | Gallbladder neuroendocrine tumor | -| GARD:65 | Galloway-Mowat syndrome | -| GARD:15199 | Galloway-mowat syndrome 1 | -| GARD:15281 | Galloway-mowat syndrome 2, x-linked | -| GARD:16247 | Galloway-mowat syndrome 3 | -| GARD:16248 | Galloway-mowat syndrome 4 | -| GARD:16249 | Galloway-mowat syndrome 5 | -| GARD:16343 | Galloway-mowat syndrome 6 | -| GARD:16344 | Galloway-mowat syndrome 7 | -| GARD:16345 | Galloway-mowat syndrome 8 | -| GARD:194 | Gamma-aminobutyric acid transaminase deficiency | -| GARD:10099 | Gamma-glutamyl transpeptidase deficiency | -| GARD:10346 | Gamma-heavy chain disease | -| GARD:2429 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | -| GARD:10638 | Gangliocytoma | -| GARD:2430 | Ganglioglioma | -| GARD:20719 | Ganglioneuroblastoma | -| GARD:20731 | Ganglioneuroma | -| GARD:12510 | Gangliosidosis | -| GARD:6482 | Gardner syndrome | -| GARD:17416 | Gastric adenocarcinoma and proximal polyposis of the stomach | -| GARD:18822 | Gastric linitis plastica | -| GARD:2438 | Gastrocutaneous syndrome | -| GARD:19383 | Gastroduodenal malformation | -| GARD:21985 | Gastroenteric neuroendocrine neoplasm | -| GARD:2437 | Gastroenteropancreatic neuroendocrine neoplasm | -| GARD:8598 | Gastrointestinal stromal tumor | -| GARD:8661 | Gastroschisis | -| GARD:8233 | Gaucher disease | -| GARD:2441 | Gaucher disease type 1 | -| GARD:2442 | Gaucher disease type 2 | -| GARD:2443 | Gaucher disease type 3 | -| GARD:12504 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | -| GARD:16234 | Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development | -| GARD:9647 | Gelatinous drop-like corneal dystrophy | -| GARD:2449 | Geleophysic dysplasia | -| GARD:15172 | Geleophysic dysplasia 1 | -| GARD:15768 | Geleophysic dysplasia 2 | -| GARD:16255 | Geleophysic dysplasia 3 | -| GARD:2451 | Gemignani syndrome | -| GARD:20709 | Gemistocytic astrocytoma | -| GARD:8380 | Generalized arterial calcification of infancy | -| GARD:17042 | Generalized basaloid follicular hamartoma syndrome | -| GARD:20368 | Generalized bulbospinal muscular atrophy | -| GARD:18659 | Generalized epilepsy with febrile seizures plus, type 1 | -| GARD:18671 | Generalized epilepsy with febrile seizures plus, type 10 | -| GARD:18661 | Generalized epilepsy with febrile seizures plus, type 2 | -| GARD:18662 | Generalized epilepsy with febrile seizures plus, type 4 | -| GARD:18663 | Generalized epilepsy with febrile seizures plus, type 6 | -| GARD:18665 | Generalized epilepsy with febrile seizures plus, type 7 | -| GARD:18664 | Generalized epilepsy with febrile seizures plus, type 8 | -| GARD:18668 | Generalized epilepsy with febrile seizures plus, type 9 | -| GARD:18641 | Generalized epilepsy with febrile seizures-plus | -| GARD:16704 | Generalized epilepsy-paroxysmal dyskinesia syndrome | -| GARD:20018 | Generalized eruptive histiocytosis | -| GARD:21736 | Generalized eruptive keratoacanthoma | -| GARD:21087 | Generalized essential telangiectasia | -| GARD:17393 | Generalized galactose epimerase deficiency | -| GARD:2499 | Generalized glucocorticoid resistance syndrome | -| GARD:21618 | Generalized isolated dystonia | -| GARD:17508 | Generalized juvenile polyposis/juvenile polyposis coli | -| GARD:12862 | Generalized peeling skin syndrome | -| GARD:4552 | Generalized pseudohypoaldosteronism type 1 | -| GARD:12819 | Generalized pustular psoriasis | -| GARD:21482 | Genetic 46,XX disorder of sex development | -| GARD:21483 | Genetic 46,XY disorder of sex development | -| GARD:21484 | Genetic 46,XY disorder of sex development of endocrine origin | -| GARD:20263 | Genetic acrokeratoderma | -| GARD:21987 | Genetic alopecia | -| GARD:22488 | Genetic autoinflammatory syndrome with skin involvement | -| GARD:20006 | Genetic biliary tract disease | -| GARD:20289 | Genetic bone tumor | -| GARD:20301 | Genetic branchial arch or oral-acral syndrome | -| GARD:21016 | Genetic cardiac anomaly | -| GARD:21969 | Genetic cardiac malformation | -| GARD:19785 | Genetic cardiac rhythm disease | -| GARD:21013 | Genetic cardiac tumor | -| GARD:20281 | Genetic central nervous system and retinal vascular disease | -| GARD:20282 | Genetic central nervous system malformation | -| GARD:21006 | Genetic cerebellar malformation | -| GARD:21004 | Genetic cerebral malformation | -| GARD:21960 | Genetic cerebral small vessel disease | -| GARD:19804 | Genetic chronic primary adrenal insufficiency | -| GARD:21922 | Genetic complex vascular malformation with associated anomalies | -| GARD:20292 | Genetic congenital limb malformation | -| GARD:22189 | Genetic congenital malformation of the eye with glaucoma as a major feature | -| GARD:22176 | Genetic corneal dystrophy | -| GARD:20294 | Genetic cranial malformation | -| GARD:19228 | Genetic cystic renal disease | -| GARD:20028 | Genetic dementia | -| GARD:20272 | Genetic dermis disorder | -| GARD:20574 | Genetic dermis elastic tissue disorder | -| GARD:20298 | Genetic developmental defect of the eye | -| GARD:20295 | Genetic digestive tract malformation | -| GARD:21012 | Genetic digestive tract tumor | -| GARD:21481 | Genetic disorder of sex development | -| GARD:21480 | Genetic disorder of sex development of gynecological interest | -| GARD:20012 | Genetic endocrine growth disease | -| GARD:20265 | Genetic epidermal appendage anomaly | -| GARD:20260 | Genetic epidermal disorder | -| GARD:20262 | Genetic erythrokeratoderma | -| GARD:20310 | Genetic eye tumor | -| GARD:21740 | Genetic facial cleft | -| GARD:21040 | Genetic frontotemporal degeneration with dementia | -| GARD:20061 | Genetic gastro-esophageal disease | -| GARD:20304 | Genetic glomerular disease | -| GARD:20324 | Genetic gynecological tumor | -| GARD:20266 | Genetic hair anomaly | -| GARD:20303 | Genetic head and neck malformation | -| GARD:21934 | Genetic hemoglobinopathy | -| GARD:22330 | Genetic hemolytic uremic syndrome | -| GARD:21617 | Genetic hyperaldosteronism | -| GARD:20751 | Genetic hyperferritinemia without iron overload | -| GARD:20408 | Genetic hyperparathyroidism | -| GARD:20270 | Genetic hyperpigmentation of the skin | -| GARD:20407 | Genetic hypoparathyroidism | -| GARD:20271 | Genetic hypopigmentation of the skin | -| GARD:20278 | Genetic immune deficiency with skin involvement | -| GARD:21021 | Genetic infertility | -| GARD:22020 | Genetic inflammatory or rheumatoid-like osteoarthropathy | -| GARD:20944 | Genetic interstitial lung disease | -| GARD:20060 | Genetic intestinal disease | -| GARD:21547 | Genetic intestinal disease due to fat malabsorption | -| GARD:21548 | Genetic intestinal polyposis | -| GARD:21546 | Genetic intractable diarrhea of infancy | -| GARD:21811 | Genetic larynx anomaly | -| GARD:20308 | Genetic lens and zonula anomaly | -| GARD:21947 | Genetic lethal multiple congenital anomalies/dysmorphic syndrome | -| GARD:12597 | Genetic lipodystrophy | -| GARD:20302 | Genetic malformation syndrome with odontal and/or periodontal component | -| GARD:20299 | Genetic malformation syndrome with short stature | -| GARD:20274 | Genetic mixed dermis disorder | -| GARD:19478 | Genetic motor neuron disease | -| GARD:20291 | Genetic multiple congenital anomalies/dysmorphic syndrome | -| GARD:21507 | Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability | -| GARD:22441 | Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability | -| GARD:20267 | Genetic nail anomaly | -| GARD:22265 | Genetic nephrotic syndrome | -| GARD:20309 | Genetic neuro-ophthalmological disease | -| GARD:20280 | Genetic neurodegenerative disease | -| GARD:21039 | Genetic neurodegenerative disease with dementia | -| GARD:21015 | Genetic neuroendocrine tumor | -| GARD:19568 | Genetic neurological channelopathy of the central nervous system | -| GARD:19562 | Genetic neurological muscular channelopathy | -| GARD:20279 | Genetic neuromuscular disease | -| GARD:19475 | Genetic neuromuscular junction disease | -| GARD:21614 | Genetic neurovascular malformation | -| GARD:21992 | Genetic non-acquired premature ovarian failure | -| GARD:21003 | Genetic non-syndromic central nervous system malformation | -| GARD:19439 | Genetic non-syndromic obesity | -| GARD:21540 | Genetic non-syndromic renal or urinary tract malformation | -| GARD:21810 | Genetic nose and cavum anomaly | -| GARD:18935 | Genetic obesity | -| GARD:21935 | Genetic otorhinolaryngologic disease | -| GARD:21809 | Genetic otorhinolaryngological malformation | -| GARD:20300 | Genetic overgrowth/obesity syndrome | -| GARD:20062 | Genetic pancreatic disease | -| GARD:20005 | Genetic parenchymatous liver disease | -| GARD:21613 | Genetic periodic paralysis | -| GARD:10711 | Genetic peripheral neuropathy | -| GARD:20277 | Genetic photodermatosis | -| GARD:20269 | Genetic pigmentation anomaly of the skin | -| GARD:20682 | Genetic polycythemia | -| GARD:20317 | Genetic polyendocrinopathy | -| GARD:20264 | Genetic porokeratosis | -| GARD:21005 | Genetic posterior fossa malformation | -| GARD:21806 | Genetic precocious puberty | -| GARD:21808 | Genetic precocious puberty in female | -| GARD:22140 | Genetic primary orthostatic disorder | -| GARD:21878 | Genetic primary orthostatic hypotension | -| GARD:21543 | Genetic progeroid syndrome | -| GARD:16916 | Genetic recurrent myoglobinuria | -| GARD:20293 | Genetic renal or urinary tract malformation | -| GARD:20306 | Genetic renal tubular disease | -| GARD:20307 | Genetic renal tumor | -| GARD:20311 | Genetic respiratory malformation | -| GARD:20297 | Genetic respiratory or mediastinal malformation | -| GARD:20268 | Genetic sebaceous gland anomaly | -| GARD:20358 | Genetic skeletal muscle disease | -| GARD:20276 | Genetic skin tumor or hamartoma | -| GARD:20273 | Genetic skin vascular disorder | -| GARD:21011 | Genetic soft tissue tumor | -| GARD:3946 | Genetic steroid-resistant nephrotic syndrome | -| GARD:20275 | Genetic subcutaneous tissue disorder | -| GARD:22177 | Genetic superficial corneal dystrophy | -| GARD:20322 | Genetic susceptibility to infections due to particular pathogens | -| GARD:21009 | Genetic syndrome with a Dandy-Walker malformation as a major feature | -| GARD:21007 | Genetic syndrome with a central nervous system malformation as a major feature | -| GARD:21008 | Genetic syndrome with a cerebellar malformation as a major feature | -| GARD:21010 | Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature | -| GARD:21728 | Genetic syndrome with limb malformations as a major feature | -| GARD:21727 | Genetic syndrome with limb reduction defects | -| GARD:21545 | Genetic syndromic Pierre Robin syndrome | -| GARD:21616 | Genetic syndromic esophageal malformation | -| GARD:22290 | Genetic systemic disease with glomerulopathy as a major feature | -| GARD:20305 | Genetic thrombotic microangiopathy | -| GARD:21812 | Genetic tracheal anomaly | -| GARD:20564 | Genetic transient congenital hypothyroidism | -| GARD:21434 | Genetic tumor of hematopoietic and lymphoid tissues | -| GARD:20009 | Genetic urogenital tract malformation | -| GARD:21014 | Genetic urogenital tumor | -| GARD:20258 | Genetic urticaria | -| GARD:20459 | Genetic vascular anomaly | -| GARD:20296 | Genetic visceral malformation of the liver, biliary tract, pancreas or spleen | -| GARD:2460 | Genitopalatocardiac syndrome | -| GARD:10994 | Genitopatellar syndrome | -| GARD:16741 | Genochondromatosis type 1 | -| GARD:16820 | Genochondromatosis type 2 | -| GARD:18797 | Germ cell tumor | -| GARD:13047 | Germ cell tumor of testis | -| GARD:2462 | German syndrome | -| GARD:19162 | Germinoma of the central nervous system | -| GARD:413 | Geroderma osteodysplastica | -| GARD:8660 | Gerstmann syndrome | -| GARD:7690 | Gerstmann-Straussler-Scheinker syndrome | -| GARD:19712 | Gestational choriocarcinoma | -| GARD:20748 | Gestational trophoblastic disease | -| GARD:6498 | Gestational trophoblastic neoplasm | -| GARD:10297 | Ghosal hematodiaphyseal dysplasia | -| GARD:20206 | Giant adenofibroma of the breast | -| GARD:6500 | Giant axonal neuropathy | -| GARD:9615 | Giant cell arteritis | -| GARD:20705 | Giant cell glioblastoma | -| GARD:13046 | Giant cell tumor of bone | -| GARD:15223 | Gillessen-kaesbach-nishimura syndrome | -| GARD:10528 | Gingival fibromatosis-facial dysmorphism syndrome | -| GARD:2324 | Gingival fibromatosis-hypertrichosis syndrome | -| GARD:3056 | Gingival fibromatosis-progressive deafness syndrome | -| GARD:15106 | Gist-plus syndrome | -| GARD:8547 | Gitelman syndrome | -| GARD:22486 | Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation | -| GARD:2478 | Glanzmann thrombasthenia | -| GARD:15240 | Glanzmann thrombasthenia 1 | -| GARD:16439 | Glanzmann thrombasthenia 2 | -| GARD:20500 | Glassy cell carcinoma of the cervix uteri | -| GARD:9485 | Glaucoma 1, open angle, a | -| GARD:18228 | Glaucoma 1, open angle, j | -| GARD:18229 | Glaucoma 1, open angle, k | -| GARD:18230 | Glaucoma 1, open angle, m | -| GARD:18231 | Glaucoma 1, open angle, n | -| GARD:18224 | Glaucoma 3, primary congenital, a | -| GARD:18225 | Glaucoma 3, primary congenital, c | -| GARD:18226 | Glaucoma 3, primary congenital, d | -| GARD:18227 | Glaucoma 3, primary congenital, e | -| GARD:2490 | Glaucoma 3, primary infantile, b | -| GARD:10942 | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea | -| GARD:2452 | Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome | -| GARD:2483 | Glaucoma-sleep apnea syndrome | -| GARD:6513 | Glial tumor | -| GARD:20713 | Glial tumor of neuroepithelial tissue with unknown origin | -| GARD:2491 | Glioblastoma | -| GARD:20989 | Glioependymal/ependymal cyst | -| GARD:6514 | Gliomatosis cerebri | -| GARD:5653 | Gliosarcoma | -| GARD:20997 | Global cerebellar malformation | -| GARD:16477 | Global developmental delay with or without impaired intellectual development | -| GARD:18541 | Global developmental delay with speech and behavioral abnormalities | -| GARD:17987 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | -| GARD:17676 | Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome | -| GARD:17893 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | -| GARD:18919 | Global developmental delay-osteopenia-ectodermal defect syndrome | -| GARD:17871 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | -| GARD:12736 | Glomerular disease | -| GARD:9268 | Glomerulopathy with fibronectin deposits 1 | -| GARD:9914 | Glomerulopathy with fibronectin deposits 2 | -| GARD:21626 | Glomus tumor | -| GARD:16728 | Glomuvenous malformation | -| GARD:19954 | Glossopalatine ankylosis | -| GARD:6519 | Glossopharyngeal neuralgia | -| GARD:2496 | Glucagonoma | -| GARD:15412 | Glucocorticoid deficiency 2 | -| GARD:15450 | Glucocorticoid deficiency 3 | -| GARD:15840 | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | -| GARD:16257 | Glucocorticoid deficiency 5 | -| GARD:18956 | Gluconeogenesis disorder | -| GARD:18957 | Glucose transport disorder | -| GARD:6521 | Glucose-galactose malabsorption | -| GARD:16631 | Glutamate-cysteine ligase deficiency | -| GARD:12469 | Glutaric acidemia type 3 | -| GARD:6522 | Glutaryl-CoA dehydrogenase deficiency | -| GARD:10047 | Glutathione synthetase deficiency | -| GARD:17330 | Glutathione synthetase deficiency with 5-oxoprolinuria | -| GARD:17331 | Glutathione synthetase deficiency without 5-oxoprolinuria | -| GARD:21311 | Glycerol kinase deficiency | -| GARD:17317 | Glycerol kinase deficiency, adult form | -| GARD:17316 | Glycerol kinase deficiency, juvenile form | -| GARD:7219 | Glycine encephalopathy | -| GARD:18973 | Glycogen storage disease | -| GARD:9730 | Glycogen storage disease due to LAMP-2 deficiency | -| GARD:5714 | Glycogen storage disease due to acid maltase deficiency | -| GARD:21310 | Glycogen storage disease due to acid maltase deficiency, infantile onset | -| GARD:21746 | Glycogen storage disease due to acid maltase deficiency, late-onset | -| GARD:600 | Glycogen storage disease due to aldolase A deficiency | -| GARD:16523 | Glycogen storage disease due to glucose-6-phosphatase deficiency | -| GARD:7864 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia | -| GARD:2515 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | -| GARD:2520 | Glycogen storage disease due to glycogen branching enzyme deficiency | -| GARD:17400 | Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form | -| GARD:17398 | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form | -| GARD:17399 | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | -| GARD:17397 | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | -| GARD:17396 | Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form | -| GARD:17395 | Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | -| GARD:17394 | Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form | -| GARD:9442 | Glycogen storage disease due to glycogen debranching enzyme deficiency | -| GARD:21309 | Glycogen storage disease due to glycogen synthase deficiency | -| GARD:2513 | Glycogen storage disease due to hepatic glycogen synthase deficiency | -| GARD:3161 | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | -| GARD:3160 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | -| GARD:3159 | Glycogen storage disease due to lactate dehydrogenase deficiency | -| GARD:16711 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | -| GARD:6529 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | -| GARD:17261 | Glycogen storage disease due to liver phosphorylase kinase deficiency | -| GARD:10760 | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | -| GARD:2125 | Glycogen storage disease due to muscle beta-enolase deficiency | -| GARD:6528 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | -| GARD:5686 | Glycogen storage disease due to muscle phosphofructokinase deficiency | -| GARD:3858 | Glycogen storage disease due to muscle phosphorylase kinase deficiency | -| GARD:7389 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | -| GARD:9964 | Glycogen storage disease due to phosphoglycerate mutase deficiency | -| GARD:18691 | Glycogen storage disease due to phosphorylase kinase deficiency | -| GARD:15173 | Glycogen storage disease ic | -| GARD:18386 | Glycogen storage disease ixa1 | -| GARD:18387 | Glycogen storage disease ixc | -| GARD:20519 | Glycogen storage disease with hypertrophic cardiomyopathy | -| GARD:17254 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | -| GARD:10670 | Glycoproteinosis | -| GARD:18353 | Glycosylphosphatidylinositol biosynthesis defect 11 | -| GARD:22577 | Glycosylphosphatidylinositol biosynthesis defect 16 | -| GARD:8698 | Gnathodiaphyseal dysplasia | -| GARD:10414 | Goblet cell carcinoma | -| GARD:9849 | Goldberg-Shprintzen megacolon syndrome | -| GARD:10781 | Goldmann-Favre syndrome | -| GARD:2285 | Gollop-Wolfgang complex | -| GARD:19408 | Gonadal dysgenesis of gynecological interest | -| GARD:21554 | Gonadal germ cell tumor | -| GARD:17100 | Gonadoblastoma | -| GARD:2546 | Gonococcal conjunctivitis | -| GARD:8622 | Good syndrome | -| GARD:2549 | Goodman syndrome | -| GARD:2553 | Gordon syndrome | -| GARD:6542 | Gorham-Stout disease | -| GARD:7166 | Gorlin syndrome | -| GARD:66 | Gorlin-Chaudhry-Moss syndrome | -| GARD:16642 | Graft versus host disease | -| GARD:3195 | Graham Little-Piccardi-Lassueur syndrome | -| GARD:16697 | Grange syndrome | -| GARD:2559 | Grant syndrome | -| GARD:9677 | Granular corneal dystrophy type I | -| GARD:9278 | Granular corneal dystrophy type II | -| GARD:22442 | Granuloma faciale | -| GARD:7880 | Granulomatosis with polyangiitis | -| GARD:21455 | Granulomatous autoinflammatory syndrome | -| GARD:21460 | Granulomatous autoinflammatory syndrome of childhood | -| GARD:15176 | Granulomatous disease, chronic, autosomal recessive, 1 | -| GARD:15177 | Granulomatous disease, chronic, autosomal recessive, 2 | -| GARD:15736 | Granulomatous disease, chronic, autosomal recessive, 3 | -| GARD:15175 | Granulomatous disease, chronic, autosomal recessive, 4 | -| GARD:16395 | Granulomatous disease, chronic, autosomal recessive, 5 | -| GARD:15294 | Granulomatous disease, chronic, x-linked | -| GARD:18863 | Granulomatous mastitis | -| GARD:10986 | Granulomatous slack skin | -| GARD:2562 | Gray platelet syndrome | -| GARD:21167 | Grayson-Wilbrandt corneal dystrophy | -| GARD:8754 | Greenberg dysplasia | -| GARD:6550 | Greig cephalopolysyndactyly syndrome | -| GARD:10913 | Griscelli syndrome | -| GARD:2566 | Griscelli syndrome type 1 | -| GARD:4483 | Griscelli syndrome type 2 | -| GARD:9715 | Griscelli syndrome type 3 | -| GARD:21380 | Growing teratoma syndrome | -| GARD:17615 | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | -| GARD:10609 | Growth delay due to insulin-like growth factor I resistance | -| GARD:10627 | Growth delay due to insulin-like growth factor type 1 deficiency | -| GARD:2427 | Growth delay-hydrocephaly-lung hypoplasia syndrome | -| GARD:17980 | Growth delay-intellectual disability-hepatopathy syndrome | -| GARD:3924 | Growth hormone insensitivity syndrome | -| GARD:18311 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | -| GARD:18312 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | -| GARD:21621 | Growth retardation-mild developmental delay-chronic hepatitis syndrome | -| GARD:2576 | Grubben-de Cock-Borghgraef syndrome | -| GARD:2578 | Guanidinoacetate methyltransferase deficiency | -| GARD:6554 | Guillain-Barré syndrome | -| GARD:18211 | Guillain-barre syndrome, familial | -| GARD:4470 | Guttmacher syndrome | -| GARD:9665 | Gynandroblastoma | -| GARD:6556 | Gyrate atrophy of choroid and retina | -| GARD:229 | Gómez-López-Hernández syndrome | -| GARD:10239 | H syndrome | -| GARD:10889 | HANAC syndrome | -| GARD:2620 | HEC syndrome | -| GARD:8528 | HELLP syndrome | -| GARD:22310 | HHV-8-associated multicentric Castleman disease | -| GARD:21857 | HIV-associated cancer | -| GARD:10221 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | -| GARD:12531 | HNRNPDL-related limb-girdle muscular dystrophy D3 | -| GARD:10716 | HSD10 disease | -| GARD:16749 | HSD10 disease, atypical type | -| GARD:17622 | HSD10 disease, infantile type | -| GARD:17623 | HSD10 disease, neonatal type | -| GARD:17877 | HTRA1-related autosomal dominant cerebral small vessel disease | -| GARD:21988 | HTRA1-related cerebral small vessel disease | -| GARD:16909 | Haddad syndrome | -| GARD:44 | Haim-Munk syndrome | -| GARD:18994 | Hair anomaly | -| GARD:21249 | Hairy cell leukemia variant | -| GARD:508 | Hajdu-Cheney syndrome | -| GARD:2586 | Hall-Riggs syndrome | -| GARD:288 | Hallermann-Streiff syndrome | -| GARD:290 | Hallermann-Streiff-like syndrome | -| GARD:3118 | Hallux varus-preaxial polysyndactyly syndrome | -| GARD:19240 | Hamel cerebro-palato-cardiac syndrome | -| GARD:2594 | Hand-foot-genital syndrome | -| GARD:69 | Hantavirus pulmonary syndrome | -| GARD:6568 | Harlequin ichthyosis | -| GARD:8610 | Harlequin syndrome | -| GARD:2601 | Harrod syndrome | -| GARD:6569 | Hartnup disease | -| GARD:2725 | Hartsfield syndrome | -| GARD:5668 | Hawkinsinuria | -| GARD:16992 | Hb Bart's hydrops fetalis | -| GARD:18788 | Hearing loss-familial salivary gland insensitivity to aldosterone syndrome | -| GARD:4166 | Heart defect-tongue hamartoma-polysyndactyly syndrome | -| GARD:2613 | Heart defects-limb shortening syndrome | -| GARD:19550 | Heart position anomaly | -| GARD:20573 | Heart-hand syndrome | -| GARD:9847 | Heart-hand syndrome type 2 | -| GARD:2614 | Heart-hand syndrome type 3 | -| GARD:9846 | Heart-hand syndrome, Slovenian type | -| GARD:19222 | Heavy chain deposition disease | -| GARD:19074 | Heavy chain disease | -| GARD:16144 | Heimler syndrome 2 | -| GARD:19714 | Heiner syndrome | -| GARD:16757 | Helicoid peripapillary chorioretinal degeneration | -| GARD:8232 | Hemangioblastoma | -| GARD:2627 | Hemangiopericytoma, malignant | -| GARD:20419 | Hematological disease associated with an acquired peripheral neuropathy | -| GARD:19231 | Hematological disorder with renal involvement | -| GARD:17995 | Heme oxygenase-1 deficiency | -| GARD:10795 | Hemicrania continua | -| GARD:21273 | Hemidystonia-hemiatrophy syndrome | -| GARD:16971 | Hemifacial hyperplasia | -| GARD:10084 | Hemifacial myohyperplasia | -| GARD:17137 | Hemifacial spasm | -| GARD:21051 | Hemihyperplasia-multiple lipomatosis syndrome | -| GARD:2637 | Hemimegalencephaly | -| GARD:18761 | Hemimelia | -| GARD:21262 | Hemiparkinsonism-hemiatrophy syndrome | -| GARD:10092 | Hemochromatosis type 2 | -| GARD:10093 | Hemochromatosis type 3 | -| GARD:10094 | Hemochromatosis type 4 | -| GARD:15647 | Hemochromatosis, type 2b | -| GARD:2640 | Hemoglobin C disease | -| GARD:20608 | Hemoglobin C-beta-thalassemia syndrome | -| GARD:19103 | Hemoglobin D disease | -| GARD:2641 | Hemoglobin E disease | -| GARD:20609 | Hemoglobin E-beta-thalassemia syndrome | -| GARD:16829 | Hemoglobin H disease | -| GARD:21505 | Hemoglobin Lepore-beta-thalassemia syndrome | -| GARD:13007 | Hemoglobin M disease | -| GARD:18883 | Hemoglobinopathy | -| GARD:17297 | Hemoglobinopathy Toms River | -| GARD:19460 | Hemolytic anemia due to a disorder of glycolytic enzymes | -| GARD:16760 | Hemolytic anemia due to adenylate kinase deficiency | -| GARD:19461 | Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder | -| GARD:1874 | Hemolytic anemia due to diphosphoglycerate mutase deficiency | -| GARD:19669 | Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | -| GARD:16541 | Hemolytic anemia due to glucophosphate isomerase deficiency | -| GARD:16784 | Hemolytic anemia due to glutathione reductase deficiency | -| GARD:18089 | Hemolytic anemia due to glutathione reductase deficiency | -| GARD:19459 | Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies | -| GARD:16635 | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | -| GARD:7514 | Hemolytic anemia due to red cell pyruvate kinase deficiency | -| GARD:15179 | Hemolytic anemia with thermal sensitivity of red cells | -| GARD:21037 | Hemolytic disease due to fetomaternal alloimmunization | -| GARD:21038 | Hemolytic disease of the newborn with Kell alloimmunization | -| GARD:22233 | Hemolytic uremic syndrome | -| GARD:17543 | Hemolytic uremic syndrome with DGKE deficiency | -| GARD:18550 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | -| GARD:18552 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | -| GARD:18553 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | -| GARD:18554 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | -| GARD:18555 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | -| GARD:18556 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | -| GARD:9922 | Hemophagocytic lymphohistiocytosis, familial, 2 | -| GARD:9928 | Hemophagocytic lymphohistiocytosis, familial, 3 | -| GARD:9929 | Hemophagocytic lymphohistiocytosis, familial, 4 | -| GARD:15614 | Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease | -| GARD:20024 | Hemophagocytic syndrome | -| GARD:7857 | Hemophagocytic syndrome associated with an infection | -| GARD:10418 | Hemophilia | -| GARD:6591 | Hemophilia A | -| GARD:8732 | Hemophilia B | -| GARD:22455 | Hemophilia B Leyden | -| GARD:20148 | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | -| GARD:18689 | Hemorrhagic fever-renal syndrome | -| GARD:15180 | Hemosiderosis, pulmonary, with deficiency of gamma-a globulin | -| GARD:21448 | Hendra virus infection | -| GARD:15181 | Hennekam lymphangiectasia-lymphedema syndrome 1 | -| GARD:16047 | Hennekam lymphangiectasia-lymphedema syndrome 2 | -| GARD:16296 | Hennekam lymphangiectasia-lymphedema syndrome 3 | -| GARD:3318 | Hennekam syndrome | -| GARD:3409 | Hennekam-Beemer syndrome | -| GARD:2650 | Heparin-induced thrombocytopenia | -| GARD:2651 | Hepatic cystic hamartoma | -| GARD:5177 | Hepatic fibrosis-renal cysts-intellectual disability syndrome | -| GARD:13004 | Hepatic veno-occlusive disease | -| GARD:10083 | Hepatic veno-occlusive disease-immunodeficiency syndrome | -| GARD:19117 | Hepatitis B reinfection following liver transplantation | -| GARD:21716 | Hepatitis delta | -| GARD:2657 | Hepatoblastoma | -| GARD:18847 | Hepatocellular adenoma | -| GARD:16773 | Hepatocellular carcinoma | -| GARD:16949 | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | -| GARD:6169 | Hepatoerythropoietic porphyria | -| GARD:18865 | Hepatoportal sclerosis | -| GARD:19077 | Hepatosplenic T-cell lymphoma | -| GARD:21017 | Hereditary ATTR amyloidosis | -| GARD:17037 | Hereditary North American Indian childhood cirrhosis | -| GARD:18781 | Hereditary acrokeratotic poikiloderma | -| GARD:6611 | Hereditary amyloidosis | -| GARD:8282 | Hereditary amyloidosis with primary renal involvement | -| GARD:5979 | Hereditary angioedema | -| GARD:16933 | Hereditary angioedema type 1 | -| GARD:16934 | Hereditary angioedema type 2 | -| GARD:22194 | Hereditary angioedema with C1Inh deficiency | -| GARD:22195 | Hereditary angioedema with normal C1Inh | -| GARD:22406 | Hereditary angioedema with normal C1Inh not related to F12 or PLG variant | -| GARD:10762 | Hereditary arterial and articular multiple calcification syndrome | -| GARD:17524 | Hereditary benign intraepithelial dyskeratosis | -| GARD:15010 | Hereditary breast and ovarian cancer syndrome | -| GARD:17142 | Hereditary breast cancer | -| GARD:1038 | Hereditary bullous dystrophy, macular type | -| GARD:16629 | Hereditary central diabetes insipidus | -| GARD:10266 | Hereditary cerebral hemorrhage with amyloidosis | -| GARD:6632 | Hereditary chronic pancreatitis | -| GARD:9571 | Hereditary clear cell renal cell carcinoma | -| GARD:16856 | Hereditary combined deficiency of vitamin K-dependent clotting factors | -| GARD:1512 | Hereditary continuous muscle fiber activity | -| GARD:6619 | Hereditary coproporphyria | -| GARD:10184 | Hereditary cryohydrocytosis with normal stomatin | -| GARD:17036 | Hereditary cryohydrocytosis with reduced stomatin | -| GARD:20094 | Hereditary dentin defect | -| GARD:10900 | Hereditary diffuse gastric cancer | -| GARD:10981 | Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | -| GARD:6621 | Hereditary elliptocytosis | -| GARD:20457 | Hereditary episodic ataxia | -| GARD:13218 | Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome | -| GARD:12983 | Hereditary folate malabsorption | -| GARD:6622 | Hereditary fructose intolerance | -| GARD:21758 | Hereditary gastric cancer | -| GARD:9501 | Hereditary geniospasm | -| GARD:16582 | Hereditary gingival fibromatosis | -| GARD:6626 | Hereditary hemorrhagic telangiectasia | -| GARD:17090 | Hereditary hypercarotenemia and vitamin A deficiency | -| GARD:3129 | Hereditary hyperekplexia | -| GARD:2806 | Hereditary hyperferritinemia-cataract syndrome | -| GARD:16977 | Hereditary hypophosphatemic rickets with hypercalciuria | -| GARD:17124 | Hereditary hypotrichosis with recurrent skin vesicles | -| GARD:21440 | Hereditary inclusion body myopathy type 4 | -| GARD:9494 | Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome | -| GARD:17635 | Hereditary isolated aplastic anemia | -| GARD:17684 | Hereditary late-onset Parkinson disease | -| GARD:10096 | Hereditary leiomyomatosis and renal cell cancer | -| GARD:2659 | Hereditary methemoglobinemia | -| GARD:16981 | Hereditary mixed polyposis syndrome | -| GARD:9208 | Hereditary motor and sensory neuropathy type 5 | -| GARD:16787 | Hereditary motor and sensory neuropathy type 6 | -| GARD:19124 | Hereditary motor and sensory neuropathy with acrodystrophy | -| GARD:10131 | Hereditary motor and sensory neuropathy, Okinawa type | -| GARD:5427 | Hereditary mucoepithelial dysplasia | -| GARD:12591 | Hereditary myopathy with early respiratory failure | -| GARD:16643 | Hereditary myopathy with lactic acidosis due to ISCU deficiency | -| GARD:676 | Hereditary neurocutaneous malformation | -| GARD:21899 | Hereditary neuroendocrine tumor of small intestine | -| GARD:5221 | Hereditary neuropathy with liability to pressure palsies | -| GARD:17287 | Hereditary neutrophilia | -| GARD:8533 | Hereditary nonpolyposis colon cancer | -| GARD:19540 | Hereditary optic neuropathy | -| GARD:5429 | Hereditary orotic aciduria | -| GARD:16705 | Hereditary painful callosities | -| GARD:18988 | Hereditary palmoplantar keratoderma | -| GARD:16767 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | -| GARD:13157 | Hereditary papillary renal cell carcinoma | -| GARD:17848 | Hereditary pediatric Behçet-like disease | -| GARD:21453 | Hereditary periodic fever syndrome | -| GARD:18647 | Hereditary persistence of alpha-fetoprotein | -| GARD:18642 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | -| GARD:22458 | Hereditary persistence of fetal hemoglobin-intellectual disability syndrome | -| GARD:18648 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | -| GARD:11984 | Hereditary pheochromocytoma-paraganglioma | -| GARD:20545 | Hereditary poikiloderma | -| GARD:16989 | Hereditary progressive mucinous histiocytosis | -| GARD:4582 | Hereditary pulmonary alveolar proteinosis | -| GARD:9496 | Hereditary renal hypouricemia | -| GARD:17544 | Hereditary retinoblastoma | -| GARD:17136 | Hereditary sclerosing poikiloderma, Weary type | -| GARD:11010 | Hereditary sensorimotor neuropathy with hyperelastic skin | -| GARD:12688 | Hereditary sensory and autonomic neuropathy | -| GARD:13568 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | -| GARD:6635 | Hereditary sensory and autonomic neuropathy type 1 | -| GARD:16958 | Hereditary sensory and autonomic neuropathy type 1B | -| GARD:3976 | Hereditary sensory and autonomic neuropathy type 2 | -| GARD:3006 | Hereditary sensory and autonomic neuropathy type 4 | -| GARD:12328 | Hereditary sensory and autonomic neuropathy type 5 | -| GARD:12987 | Hereditary sensory and autonomic neuropathy type 6 | -| GARD:12732 | Hereditary sensory and autonomic neuropathy type 7 | -| GARD:17866 | Hereditary sensory and autonomic neuropathy type 8 | -| GARD:19920 | Hereditary sensory and autonomic neuropathy with deafness and global delay | -| GARD:11927 | Hereditary sensory neuropathy-deafness-dementia syndrome | -| GARD:20468 | Hereditary site-specific ovarian cancer syndrome | -| GARD:6637 | Hereditary spastic paraplegia | -| GARD:6639 | Hereditary spherocytosis | -| GARD:19456 | Hereditary stomatocytosis | -| GARD:16731 | Hereditary thermosensitive neuropathy | -| GARD:17870 | Hereditary thrombocytopenia with early-onset myelofibrosis | -| GARD:17267 | Hereditary thrombocytopenia with normal platelets | -| GARD:6148 | Hereditary thrombophilia due to congenital antithrombin deficiency | -| GARD:17125 | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | -| GARD:16628 | Hereditary xanthinuria | -| GARD:11914 | Heritable pulmonary arterial hypertension | -| GARD:6643 | Hermansky-Pudlak syndrome | -| GARD:15026 | Hermansky-Pudlak syndrome due to AP-3 deficiency | -| GARD:17170 | Hermansky-Pudlak syndrome due to BLOC-1 deficiency | -| GARD:17169 | Hermansky-Pudlak syndrome due to BLOC-2 deficiency | -| GARD:17168 | Hermansky-Pudlak syndrome due to BLOC-3 deficiency | -| GARD:18331 | Hermansky-pudlak syndrome 1 | -| GARD:16180 | Hermansky-pudlak syndrome 10 | -| GARD:18339 | Hermansky-pudlak syndrome 11 | -| GARD:9435 | Hermansky-pudlak syndrome 2 | -| GARD:18333 | Hermansky-pudlak syndrome 3 | -| GARD:18332 | Hermansky-pudlak syndrome 4 | -| GARD:18334 | Hermansky-pudlak syndrome 5 | -| GARD:18335 | Hermansky-pudlak syndrome 6 | -| GARD:18336 | Hermansky-pudlak syndrome 7 | -| GARD:18337 | Hermansky-pudlak syndrome 8 | -| GARD:18338 | Hermansky-pudlak syndrome 9 | -| GARD:15295 | Hernia, anterior diaphragmatic | -| GARD:3491 | Hernández-Aguirre Negrete syndrome | -| GARD:6649 | Herpes simplex virus encephalitis | -| GARD:19879 | Herpes simplex virus stromal keratitis | -| GARD:20406 | Herpetiform pemphigus | -| GARD:10875 | Heterotaxia | -| GARD:2056 | Hidrotic ectodermal dysplasia | -| GARD:2682 | Hidrotic ectodermal dysplasia, Christianson-Fourie type | -| GARD:280 | Hidrotic ectodermal dysplasia, Halal type | -| GARD:21502 | High altitude pulmonary edema | -| GARD:21366 | High bone mass osteogenesis imperfecta | -| GARD:21980 | High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement | -| GARD:12844 | High myopia-sensorineural deafness syndrome | -| GARD:20704 | High-grade astrocytoma | -| GARD:20598 | High-grade dysplasia in patients with Barrett esophagus | -| GARD:20489 | High-grade neuroendocrine carcinoma of the cervix uteri | -| GARD:20482 | High-grade neuroendocrine carcinoma of the corpus uteri | -| GARD:19047 | Hinman syndrome | -| GARD:2690 | Hip dysplasia, Beukes type | -| GARD:6660 | Hirschsprung disease | -| GARD:15076 | Hirschsprung disease, susceptibility to, 1 | -| GARD:15315 | Hirschsprung disease, susceptibility to, 2 | -| GARD:15696 | Hirschsprung disease, susceptibility to, 3 | -| GARD:15697 | Hirschsprung disease, susceptibility to, 4 | -| GARD:15316 | Hirschsprung disease, susceptibility to, 5 | -| GARD:15402 | Hirschsprung disease, susceptibility to, 6 | -| GARD:15403 | Hirschsprung disease, susceptibility to, 7 | -| GARD:15432 | Hirschsprung disease, susceptibility to, 8 | -| GARD:15525 | Hirschsprung disease, susceptibility to, 9 | -| GARD:157 | Hirschsprung disease-deafness-polydactyly syndrome | -| GARD:2695 | Hirschsprung disease-ganglioneuroblastoma syndrome | -| GARD:584 | Hirschsprung disease-nail hypoplasia-dysmorphism syndrome | -| GARD:2700 | Hirschsprung disease-type D brachydactyly syndrome | -| GARD:2706 | His bundle tachycardia | -| GARD:6661 | Histidinemia | -| GARD:2708 | Histidinuria-renal tubular defect syndrome | -| GARD:19441 | Histiocytic and dendritic cell tumor | -| GARD:19080 | Histiocytic sarcoma | -| GARD:9511 | Histiocytoid cardiomyopathy | -| GARD:18692 | Histoplasmosis | -| GARD:2714 | Hodgkin lymphoma | -| GARD:5749 | Holmes-Adie syndrome | -| GARD:2721 | Holocarboxylase synthetase deficiency | -| GARD:6665 | Holoprosencephaly | -| GARD:2722 | Holoprosencephaly-caudal dysgenesis syndrome | -| GARD:2454 | Holoprosencephaly-craniosynostosis syndrome | -| GARD:344 | Holoprosencephaly-postaxial polydactyly syndrome | -| GARD:2727 | Holoprosencephaly-radial heart renal anomalies syndrome | -| GARD:6666 | Holt-Oram syndrome | -| GARD:2728 | Holzgreve syndrome | -| GARD:2734 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | -| GARD:16537 | Homocystinuria without methylmalonic aciduria | -| GARD:21582 | Homozygous 2p21 microdeletion syndrome | -| GARD:10416 | Homozygous familial hypercholesterolemia | -| GARD:12682 | Horizontal gaze palsy with progressive scoliosis | -| GARD:17028 | Hot water reflex epilepsy | -| GARD:19703 | House allergic alveolitis | -| GARD:346 | Hoyeraal-Hreidarsson syndrome | -| GARD:20569 | Hughes-Stovin syndrome | -| GARD:19830 | Human herpesvirus 8-related disorder | -| GARD:21822 | Human infection by orthopoxvirus | -| GARD:18851 | Human prion disease | -| GARD:21192 | Humeral agenesis/hypoplasia | -| GARD:2748 | Humero-radial synostosis | -| GARD:2749 | Humero-radio-ulnar synostosis | -| GARD:19244 | Humero-ulnar synostosis | -| GARD:21220 | Humero-ulnar synostosis, bilateral | -| GARD:21219 | Humero-ulnar synostosis, unilateral | -| GARD:2750 | Humerus trochlea aplasia | -| GARD:2754 | Hunter-McAlpine syndrome | -| GARD:6677 | Huntington disease | -| GARD:16985 | Huntington disease-like 1 | -| GARD:16874 | Huntington disease-like 2 | -| GARD:16986 | Huntington disease-like 3 | -| GARD:20029 | Huntington disease-like syndrome | -| GARD:21702 | Huntington disease-like syndrome due to C9ORF72 expansions | -| GARD:8517 | Huriez syndrome | -| GARD:12559 | Hurler syndrome | -| GARD:12560 | Hurler-Scheie syndrome | -| GARD:7467 | Hutchinson-Gilford progeria syndrome | -| GARD:7148 | Hyaline body myopathy | -| GARD:22029 | Hyaline fibromatosis syndrome | -| GARD:16675 | Hyaluronidase deficiency | -| GARD:10263 | Hydatidiform mole | -| GARD:18365 | Hydatidiform mole, recurrent, 1 | -| GARD:18366 | Hydatidiform mole, recurrent, 2 | -| GARD:18367 | Hydatidiform mole, recurrent, 3 | -| GARD:18368 | Hydatidiform mole, recurrent, 4 | -| GARD:6681 | Hydranencephaly | -| GARD:9654 | Hydroa vacciniforme | -| GARD:21563 | Hydroa vacciniforme-like lymphoma | -| GARD:434 | Hydrocephalus with stenosis of the aqueduct of Sylvius | -| GARD:18090 | Hydrocephalus, congenital communicating, 1 | -| GARD:236 | Hydrocephalus-blue sclerae-nephropathy syndrome | -| GARD:5518 | Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome | -| GARD:2775 | Hydrocephalus-obesity-hypogonadism syndrome | -| GARD:1200 | Hydrocephaly-cerebellar agenesis syndrome | -| GARD:4199 | Hydrocephaly-low insertion umbilicus syndrome | -| GARD:1666 | Hydrocephaly-tall stature-joint laxity syndrome | -| GARD:6683 | Hydrolethalus | -| GARD:15182 | Hydrolethalus syndrome 1 | -| GARD:15759 | Hydrolethalus syndrome 2 | -| GARD:2783 | Hydrops fetalis | -| GARD:17966 | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | -| GARD:10039 | Hydroxykynureninuria | -| GARD:2787 | Hymenolepiasis | -| GARD:10956 | Hyper-IgE syndrome | -| GARD:10578 | Hyper-IgM syndrome type 2 | -| GARD:10579 | Hyper-IgM syndrome type 3 | -| GARD:10580 | Hyper-IgM syndrome type 4 | -| GARD:10581 | Hyper-IgM syndrome type 5 | -| GARD:17084 | Hyper-IgM syndrome with susceptibility to opportunistic infections | -| GARD:17085 | Hyper-IgM syndrome without susceptibility to opportunistic infections | -| GARD:10267 | Hyper-beta-alaninemia | -| GARD:20230 | Hyperalphalipoproteinemia | -| GARD:18075 | Hyperalphalipoproteinemia 1 | -| GARD:7158 | Hyperammonemia due to N-acetylglutamate synthase deficiency | -| GARD:13201 | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | -| GARD:9882 | Hyperandrogenism due to cortisone reductase deficiency | -| GARD:17279 | Hyperbiliverdinemia | -| GARD:18434 | Hypercalcemia, infantile, 1 | -| GARD:18435 | Hypercalcemia, infantile, 2 | -| GARD:18584 | Hypercalciuria, absorptive, 1 | -| GARD:18583 | Hypercalciuria, absorptive, 2 | -| GARD:18301 | Hypercarotenemia and vitamin a deficiency, autosomal dominant | -| GARD:18302 | Hypercarotenemia and vitamin a deficiency, autosomal recessive | -| GARD:18340 | Hypercholanemia, familial 1 | -| GARD:18341 | Hypercholanemia, familial, 2 | -| GARD:20441 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | -| GARD:8588 | Hypercholesterolemia, familial, 2 | -| GARD:18614 | Hypercholesterolemia, familial, 4 | -| GARD:9965 | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | -| GARD:21955 | Hypercontractile muscle stiffness syndrome | -| GARD:21281 | Hyperekplexia | -| GARD:15826 | Hyperekplexia 2 | -| GARD:15825 | Hyperekplexia 3 | -| GARD:16284 | Hyperekplexia 4 | -| GARD:17010 | Hyperekplexia-epilepsy syndrome | -| GARD:2804 | Hypereosinophilic syndrome | -| GARD:298 | Hypergonadotropic hypogonadism-cataract syndrome | -| GARD:2788 | Hyperimmunoglobulinemia D with periodic fever | -| GARD:21849 | Hyperinsulinemic hypoglycaemia | -| GARD:21444 | Hyperinsulinism due to HNF1A deficiency | -| GARD:20903 | Hyperinsulinism due to HNF4A deficiency | -| GARD:17256 | Hyperinsulinism due to INSR deficiency | -| GARD:21054 | Hyperinsulinism due to UCP2 deficiency | -| GARD:2818 | Hyperinsulinism due to glucokinase deficiency | -| GARD:9870 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | -| GARD:9931 | Hyperinsulinism-hyperammonemia syndrome | -| GARD:195 | Hyperkalemic periodic paralysis | -| GARD:2824 | Hyperkeratosis lenticularis perstans | -| GARD:16563 | Hyperkeratosis-hyperpigmentation syndrome | -| GARD:12864 | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency | -| GARD:15077 | Hyperlipidemia, familial combined, 3 | -| GARD:2828 | Hyperlysinemia | -| GARD:15183 | Hyperlysinemia due to defect in lysine transport into mitochondria | -| GARD:10764 | Hypermethioninemia due to glycine N-methyltransferase deficiency | -| GARD:17321 | Hypermethioninemia encephalopathy due to adenosine kinase deficiency | -| GARD:2081 | Hypermobile Ehlers-Danlos syndrome | -| GARD:2830 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | -| GARD:2833 | Hyperostosis corticalis generalisata | -| GARD:17753 | Hyperostosis cranialis interna | -| GARD:18253 | Hyperparathyroidism 1 | -| GARD:18255 | Hyperparathyroidism 3 | -| GARD:18256 | Hyperparathyroidism 4 | -| GARD:18254 | Hyperparathyroidism, primary, caused by water clear cell hyperplasia | -| GARD:16304 | Hyperparathyroidism, transient neonatal | -| GARD:10829 | Hyperparathyroidism-jaw tumor syndrome | -| GARD:21199 | Hyperphalangy | -| GARD:17950 | Hyperphenylalaninemia due to DNAJC12 deficiency | -| GARD:7751 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | -| GARD:18349 | Hyperphosphatasia with mental retardation syndrome 1 | -| GARD:18351 | Hyperphosphatasia with mental retardation syndrome 2 | -| GARD:18350 | Hyperphosphatasia with mental retardation syndrome 3 | -| GARD:18352 | Hyperphosphatasia with mental retardation syndrome 4 | -| GARD:18354 | Hyperphosphatasia with mental retardation syndrome 6 | -| GARD:17188 | Hyperphosphatasia-intellectual disability syndrome | -| GARD:19004 | Hyperpigmentation of the skin | -| GARD:18073 | Hyperpigmentation with or without hypopigmentation, familial progressive | -| GARD:18074 | Hyperpigmentation, familial progressive, 1 | -| GARD:2847 | Hyperprolinemia type 1 | -| GARD:6710 | Hyperprolinemia type 2 | -| GARD:12 | Hypersensitivity pneumonitis | -| GARD:8240 | Hypersensitivity pneumonitis, familial | -| GARD:287 | Hypertelorism-hypospadias-polysyndactyly syndrome | -| GARD:897 | Hypertelorism-microtia-facial clefting syndrome | -| GARD:17351 | Hypertelorism-preauricular sinus-punctual pits-deafness syndrome | -| GARD:19093 | Hypertension due to gain-of-function mutations in the mineralocorticoid receptor | -| GARD:143 | Hypertrichosis cubiti | -| GARD:2865 | Hypertrichosis lanuginosa congenita | -| GARD:21442 | Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation | -| GARD:19132 | Hypertrophic or verrucous lupus erythematosus | -| GARD:15101 | Hypertrophic osteoarthropathy, primary, autosomal dominant | -| GARD:15216 | Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | -| GARD:15805 | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | -| GARD:2871 | Hypertryptophanemia | -| GARD:17569 | Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | -| GARD:17213 | Hyperzincemia and hypercalprotectinemia | -| GARD:10796 | Hypnic headache | -| GARD:3347 | Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome | -| GARD:18801 | Hypoalphalipoproteinemia | -| GARD:18802 | Hypobetalipoproteinemia | -| GARD:2876 | Hypobetalipoproteinemia, familial, 1 | -| GARD:15376 | Hypobetalipoproteinemia, familial, 2 | -| GARD:15951 | Hypocalcemia, autosomal dominant 2 | -| GARD:21133 | Hypocalcemic rickets | -| GARD:17319 | Hypocalcemic vitamin D-dependent rickets | -| GARD:16805 | Hypocalcemic vitamin D-resistant rickets | -| GARD:16931 | Hypocalcified amelogenesis imperfecta | -| GARD:16815 | Hypochondrogenesis | -| GARD:6724 | Hypochondroplasia | -| GARD:6725 | Hypocomplementemic urticarial vasculitis | -| GARD:5587 | Hypodontia-dysplasia of nails syndrome | -| GARD:68 | Hypoglossia-hypodactyly syndrome | -| GARD:19995 | Hypoglossia/aglossia | -| GARD:1078 | Hypogonadism-mitral valve prolapse-intellectual disability syndrome | -| GARD:3071 | Hypogonadotropic hypogonadism 1 with or without anosmia | -| GARD:18600 | Hypogonadotropic hypogonadism 10 with or without anosmia | -| GARD:15851 | Hypogonadotropic hypogonadism 11 with or without anosmia | -| GARD:276 | Hypogonadotropic hypogonadism 12 with or without anosmia | -| GARD:18601 | Hypogonadotropic hypogonadism 13 with or without anosmia | -| GARD:15857 | Hypogonadotropic hypogonadism 14 with or without anosmia | -| GARD:15872 | Hypogonadotropic hypogonadism 15 with or without anosmia | -| GARD:15878 | Hypogonadotropic hypogonadism 16 with or without anosmia | -| GARD:15928 | Hypogonadotropic hypogonadism 17 with or without anosmia | -| GARD:15929 | Hypogonadotropic hypogonadism 18 with or without anosmia | -| GARD:15931 | Hypogonadotropic hypogonadism 19 with or without anosmia | -| GARD:3070 | Hypogonadotropic hypogonadism 2 with or without anosmia | -| GARD:15932 | Hypogonadotropic hypogonadism 20 with or without anosmia | -| GARD:15933 | Hypogonadotropic hypogonadism 21 with or without anosmia | -| GARD:16050 | Hypogonadotropic hypogonadism 22 with or without anosmia | -| GARD:16387 | Hypogonadotropic hypogonadism 25 with anosmia | -| GARD:3073 | Hypogonadotropic hypogonadism 3 with or without anosmia | -| GARD:10772 | Hypogonadotropic hypogonadism 4 with or without anosmia | -| GARD:10773 | Hypogonadotropic hypogonadism 5 with or without anosmia | -| GARD:10774 | Hypogonadotropic hypogonadism 6 with or without anosmia | -| GARD:2897 | Hypogonadotropic hypogonadism 7 with or without anosmia | -| GARD:15849 | Hypogonadotropic hypogonadism 8 with or without anosmia | -| GARD:15850 | Hypogonadotropic hypogonadism 9 with or without anosmia | -| GARD:324 | Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome | -| GARD:1234 | Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome | -| GARD:21174 | Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome | -| GARD:17967 | Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome | -| GARD:17562 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | -| GARD:76 | Hypohidrotic ectodermal dysplasia | -| GARD:9936 | Hypohidrotic ectodermal dysplasia with immunodeficiency | -| GARD:2049 | Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome | -| GARD:17352 | Hypoinsulinemic hypoglycemia and body hemihypertrophy | -| GARD:6729 | Hypokalemic periodic paralysis | -| GARD:15649 | Hypokalemic periodic paralysis, type 2 | -| GARD:2907 | Hypomandibular faciocranial dysostosis | -| GARD:8349 | Hypomaturation amelogenesis imperfecta | -| GARD:16932 | Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | -| GARD:16948 | Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome | -| GARD:16604 | Hypomyelination neuropathy-arthrogryposis syndrome | -| GARD:22405 | Hypomyelination of early myelinating structures | -| GARD:10917 | Hypomyelination with atrophy of basal ganglia and cerebellum | -| GARD:17554 | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | -| GARD:17773 | Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome | -| GARD:11980 | Hypomyelination-congenital cataract syndrome | -| GARD:16771 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | -| GARD:18257 | Hypoparathyroidism, familial isolated, 2 | -| GARD:2914 | Hypoparathyroidism, x-linked | -| GARD:2911 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | -| GARD:6734 | Hypophosphatasia | -| GARD:6735 | Hypophosphatemic rickets | -| GARD:18416 | Hypophosphatemic rickets, autosomal recessive, 1 | -| GARD:18417 | Hypophosphatemic rickets, autosomal recessive, 2 | -| GARD:15011 | Hypophosphatemic rickets, x-linked recessive | -| GARD:19005 | Hypopigmentation of the skin | -| GARD:12384 | Hypopigmentation-punctate palmoplantar keratoderma syndrome | -| GARD:19625 | Hypoplasia of the mitral valve annulus | -| GARD:4380 | Hypoplasminogenemia | -| GARD:645 | Hypoplastic amelogenesis imperfecta | -| GARD:6739 | Hypoplastic left heart syndrome | -| GARD:15803 | Hypoplastic left heart syndrome 2 | -| GARD:5237 | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome | -| GARD:2922 | Hypoplastic right heart syndrome | -| GARD:16590 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | -| GARD:18185 | Hypospadias 1, x-linked | -| GARD:18186 | Hypospadias 2, x-linked | -| GARD:18184 | Hypospadias 3, autosomal | -| GARD:18187 | Hypospadias 4, x-linked, susceptibility to | -| GARD:2928 | Hypospadias-intellectual disability, Goldblatt type syndrome | -| GARD:21850 | Hypothalamic adipsic hypernatraemia syndrome | -| GARD:19084 | Hypothalamic hamartomas with gelastic seizures | -| GARD:16793 | Hypothyroidism due to TSH receptor mutations | -| GARD:20562 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | -| GARD:15165 | Hypothyroidism, congenital, nongoitrous, 5 | -| GARD:16950 | Hypotonia with lactic acidemia and hyperammonemia | -| GARD:18457 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | -| GARD:18458 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | -| GARD:16998 | Hypotonia-cystinuria syndrome | -| GARD:20634 | Hypotonia-cystinuria type 1 syndrome | -| GARD:16725 | Hypotonia-failure to thrive-microcephaly syndrome | -| GARD:17609 | Hypotonia-speech impairment-severe cognitive delay syndrome | -| GARD:15782 | Hypotrichosis 10 | -| GARD:15900 | Hypotrichosis 11 | -| GARD:16027 | Hypotrichosis 12 | -| GARD:16029 | Hypotrichosis 13 | -| GARD:16335 | Hypotrichosis 14 | -| GARD:18093 | Hypotrichosis 2 | -| GARD:18094 | Hypotrichosis 3 | -| GARD:15078 | Hypotrichosis 4 | -| GARD:15585 | Hypotrichosis 5 | -| GARD:15423 | Hypotrichosis 6 | -| GARD:8178 | Hypotrichosis 7 | -| GARD:15247 | Hypotrichosis 8 | -| GARD:15781 | Hypotrichosis 9 | -| GARD:9170 | Hypotrichosis simplex | -| GARD:16789 | Hypotrichosis simplex of the scalp | -| GARD:3066 | Hypotrichosis with juvenile macular degeneration | -| GARD:21504 | Hypotrichosis-deafness syndrome | -| GARD:18763 | Hypotrichosis-intellectual disability, Lopes type | -| GARD:15420 | Hypotrichosis-lymphedema-telangiectasia syndrome | -| GARD:12827 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | -| GARD:2492 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | -| GARD:17384 | Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome | -| GARD:15296 | Hypouricemia, familial renal, due to tubular hypersecretion | -| GARD:15186 | Hypouricemia, hypercalcinuria, and decreased bone density | -| GARD:15541 | Hypouricemia, renal, 2 | -| GARD:16710 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | -| GARD:2943 | Hypoxanthine-guanine phosphoribosyltransferase deficiency | -| GARD:2945 | ICF syndrome | -| GARD:17852 | IL21-related infantile inflammatory bowel disease | -| GARD:12312 | IMAGe syndrome | -| GARD:22396 | IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome | -| GARD:10957 | IRIDA syndrome | -| GARD:12868 | IRVAN syndrome | -| GARD:17519 | ISPD-related limb-girdle muscular dystrophy R20 | -| GARD:17741 | ITM2B amyloidosis | -| GARD:17806 | ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | -| GARD:269 | IVIC syndrome | -| GARD:22329 | Iatrogenic Creutzfeldt-Jakob disease | -| GARD:20747 | Iatrogenic botulism | -| GARD:18985 | Ichthyosis | -| GARD:2952 | Ichthyosis follicularis-alopecia-photophobia syndrome | -| GARD:2954 | Ichthyosis hystrix of Curth-Macklin | -| GARD:3170 | Ichthyosis, congenital, autosomal recessive 1 | -| GARD:15897 | Ichthyosis, congenital, autosomal recessive 10 | -| GARD:16471 | Ichthyosis, congenital, autosomal recessive 14 | -| GARD:15187 | Ichthyosis, congenital, autosomal recessive 2 | -| GARD:15393 | Ichthyosis, congenital, autosomal recessive 3 | -| GARD:9733 | Ichthyosis, congenital, autosomal recessive 4a | -| GARD:9734 | Ichthyosis, congenital, autosomal recessive 5 | -| GARD:15547 | Ichthyosis, congenital, autosomal recessive 6 | -| GARD:15895 | Ichthyosis, congenital, autosomal recessive 7 | -| GARD:16457 | Ichthyosis, congenital, autosomal recessive 8 | -| GARD:15896 | Ichthyosis, congenital, autosomal recessive 9 | -| GARD:15417 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis | -| GARD:15349 | Ichthyosis, hystrix-like, with deafness | -| GARD:15250 | Ichthyosis, x-linked, without steroid sulfatase deficiency | -| GARD:292 | Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome | -| GARD:1993 | Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome | -| GARD:10116 | Ichthyosis-hypotrichosis syndrome | -| GARD:4641 | Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome | -| GARD:2960 | Ichthyosis-oral and digital anomalies syndrome | -| GARD:9886 | Ichthyosis-prematurity syndrome | -| GARD:17579 | Ichthyosis-short stature-brachydactyly-microspherophakia syndrome | -| GARD:12375 | Idiopathic CD4 lymphocytopenia | -| GARD:5708 | Idiopathic achalasia | -| GARD:519 | Idiopathic acute eosinophilic pneumonia | -| GARD:19914 | Idiopathic acute transverse myelitis | -| GARD:21098 | Idiopathic anterior uveitis | -| GARD:5836 | Idiopathic aplastic anemia | -| GARD:21665 | Idiopathic avascular necrosis | -| GARD:20124 | Idiopathic bilateral vestibulopathy | -| GARD:16664 | Idiopathic bronchiectasis | -| GARD:1063 | Idiopathic camptocormia | -| GARD:20119 | Idiopathic central precocious puberty | -| GARD:1130 | Idiopathic chronic eosinophilic pneumonia | -| GARD:19298 | Idiopathic congenital hypothyroidism | -| GARD:17106 | Idiopathic copper-associated cirrhosis | -| GARD:21874 | Idiopathic dropped head syndrome | -| GARD:21975 | Idiopathic ductopenia | -| GARD:20664 | Idiopathic eosinophilic myositis | -| GARD:20246 | Idiopathic eosinophilic pneumonia | -| GARD:22249 | Idiopathic gastroparesis | -| GARD:21494 | Idiopathic giant cell myocarditis | -| GARD:19085 | Idiopathic hemiconvulsion-hemiplegia syndrome | -| GARD:16587 | Idiopathic hypercalciuria | -| GARD:16625 | Idiopathic hypereosinophilic syndrome | -| GARD:8737 | Idiopathic hypersomnia | -| GARD:9128 | Idiopathic inflammatory myopathy | -| GARD:13337 | Idiopathic interstitial pneumonia | -| GARD:4561 | Idiopathic intracranial hypertension | -| GARD:19292 | Idiopathic isolated micropenis | -| GARD:6760 | Idiopathic juvenile osteoporosis | -| GARD:21365 | Idiopathic linear interstitial keratitis | -| GARD:19127 | Idiopathic localized lipodystrophy | -| GARD:21531 | Idiopathic macular telangiectasia type 1 | -| GARD:21532 | Idiopathic macular telangiectasia type 3 | -| GARD:19046 | Idiopathic malabsorption due to bile acid synthesis defects | -| GARD:22309 | Idiopathic multicentric Castleman disease | -| GARD:22287 | Idiopathic multidrug-resistant nephrotic syndrome | -| GARD:18831 | Idiopathic neonatal atrial flutter | -| GARD:21539 | Idiopathic nephrotic syndrome | -| GARD:22285 | Idiopathic non-lupus full-house nephropathy | -| GARD:22041 | Idiopathic optic perineuritis | -| GARD:20087 | Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes | -| GARD:21100 | Idiopathic panuveitis | -| GARD:21977 | Idiopathic peliosis hepatis | -| GARD:21860 | Idiopathic phalangeal acro-osteolysis | -| GARD:22004 | Idiopathic pleuroparenchymal fibroelastosis | -| GARD:21099 | Idiopathic posterior uveitis | -| GARD:21025 | Idiopathic pulmonary arterial hypertension | -| GARD:6757 | Idiopathic pulmonary artery dilatation | -| GARD:8609 | Idiopathic pulmonary fibrosis | -| GARD:6763 | Idiopathic pulmonary hemosiderosis | -| GARD:20695 | Idiopathic recurrent pericarditis | -| GARD:21045 | Idiopathic recurrent stupor | -| GARD:10822 | Idiopathic spontaneous coronary artery dissection | -| GARD:18003 | Idiopathic steroid-resistant nephrotic syndrome | -| GARD:22288 | Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy | -| GARD:16678 | Idiopathic steroid-sensitive nephrotic syndrome | -| GARD:22286 | Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance | -| GARD:19693 | Idiopathic syringomyelia | -| GARD:10363 | Idiopathic trachyonychia | -| GARD:20442 | Idiopathic uveal effusion syndrome | -| GARD:4227 | Idiopathic ventricular fibrillation, non Brugada type | -| GARD:16531 | Idiopathic/heritable pulmonary arterial hypertension | -| GARD:15297 | Ifap syndrome 1, with or without bresheck syndrome | -| GARD:16402 | Ifap syndrome 2 | -| GARD:22242 | IgA pemphigus | -| GARD:21883 | IgG4-related aortitis | -| GARD:7043 | IgG4-related dacryoadenitis and sialadenitis | -| GARD:12521 | IgG4-related disease | -| GARD:21882 | IgG4-related kidney disease | -| GARD:8337 | IgG4-related mediastinitis | -| GARD:8169 | IgG4-related mesenteritis | -| GARD:21885 | IgG4-related ophthalmic disease | -| GARD:13256 | IgG4-related pachymeningitis | -| GARD:9568 | IgG4-related retroperitoneal fibrosis | -| GARD:21867 | IgG4-related sclerosing cholangitis | -| GARD:21884 | IgG4-related submandibular gland disease | -| GARD:22391 | IgG4-related systemic disease | -| GARD:18866 | IgG4-related thyroid disease | -| GARD:19753 | Ileal neuroendocrine tumor | -| GARD:20637 | Ileal pouch anal anastomosis related faecal incontinence | -| GARD:16381 | Imagawa-matsumoto syndrome | -| GARD:7006 | Imerslund-Gräsbeck syndrome | -| GARD:8424 | Iminoglycinuria | -| GARD:19984 | Immune complex mediated vasculitis | -| GARD:22464 | Immune deficiency due to impaired neutrophil phagocytosis and migration | -| GARD:19019 | Immune deficiency with skin involvement | -| GARD:2984 | Immune deficiency, familial variable | -| GARD:16400 | Immune dysregulation and systemic hyperinflammation syndrome | -| GARD:20117 | Immune dysregulation disease with immunodeficiency | -| GARD:22203 | Immune dysregulation with inflammatory bowel disease | -| GARD:13016 | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | -| GARD:22204 | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome | -| GARD:1850 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | -| GARD:21561 | Immune hydrops fetalis | -| GARD:5194 | Immune thrombocytopenia | -| GARD:21933 | Immune-mediated acquired neuromuscular junction disease | -| GARD:22494 | Immune-mediated cerebellar ataxia | -| GARD:20351 | Immune-mediated necrotizing myopathy | -| GARD:4607 | Immune-mediated thrombotic thrombocytopenic purpura | -| GARD:20115 | Immuno-osseous dysplasia | -| GARD:18293 | Immunodeficiency 104 | -| GARD:15979 | Immunodeficiency 14a, autosomal dominant | -| GARD:18469 | Immunodeficiency 15a | -| GARD:18468 | Immunodeficiency 15b | -| GARD:18295 | Immunodeficiency 18 | -| GARD:18296 | Immunodeficiency 19 | -| GARD:18294 | Immunodeficiency 25 | -| GARD:16046 | Immunodeficiency 36 | -| GARD:15185 | Immunodeficiency 43 | -| GARD:15732 | Immunodeficiency 51 | -| GARD:10007 | Immunodeficiency 61 | -| GARD:16360 | Immunodeficiency 64 | -| GARD:18299 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | -| GARD:18300 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | -| GARD:18194 | Immunodeficiency 75 | -| GARD:15600 | Immunodeficiency 83, susceptibility to viral infections | -| GARD:8427 | Immunodeficiency by defective expression of MHC class I | -| GARD:824 | Immunodeficiency by defective expression of MHC class II | -| GARD:17049 | Immunodeficiency due to CD25 deficiency | -| GARD:17512 | Immunodeficiency due to MASP-2 deficiency | -| GARD:15025 | Immunodeficiency due to a classical component pathway complement deficiency | -| GARD:21919 | Immunodeficiency due to a complement cascade component deficiency | -| GARD:19811 | Immunodeficiency due to a complement cascade protein anomaly | -| GARD:21920 | Immunodeficiency due to a complement regulatory deficiency | -| GARD:17050 | Immunodeficiency due to a late component of complement deficiency | -| GARD:21511 | Immunodeficiency due to absence of thymus | -| GARD:17513 | Immunodeficiency due to ficolin3 deficiency | -| GARD:10311 | Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | -| GARD:11903 | Immunodeficiency due to selective anti-polysaccharide antibody deficiency | -| GARD:19807 | Immunodeficiency predominantly affecting antibody production | -| GARD:20116 | Immunodeficiency syndrome with autoimmunity | -| GARD:21515 | Immunodeficiency syndrome with hypopigmentation | -| GARD:17099 | Immunodeficiency with factor H anomaly | -| GARD:17098 | Immunodeficiency with factor I anomaly | -| GARD:21512 | Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells | -| GARD:21513 | Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells | -| GARD:15990 | Immunodeficiency, common variable, 10 | -| GARD:16141 | Immunodeficiency, common variable, 12, with autoimmunity | -| GARD:15184 | Immunodeficiency, common variable, 2 | -| GARD:15668 | Immunodeficiency, common variable, 3 | -| GARD:15669 | Immunodeficiency, common variable, 4 | -| GARD:15670 | Immunodeficiency, common variable, 5 | -| GARD:15671 | Immunodeficiency, common variable, 6 | -| GARD:15836 | Immunodeficiency, common variable, 7 | -| GARD:19443 | Immunodeficiency-associated lymphoproliferative disease | -| GARD:15188 | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | -| GARD:15751 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | -| GARD:16168 | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | -| GARD:16169 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | -| GARD:8204 | Immunoglobulin A vasculitis | -| GARD:20111 | Immunoglobulin heavy chain deficiency | -| GARD:17506 | Immunoglobulin-mediated membranoproliferative glomerulonephritis | -| GARD:12048 | Immunotactoid glomerulopathy | -| GARD:12741 | Immunotactoid or fibrillary glomerulopathy | -| GARD:2989 | Imperforate oropharynx-costovertebral anomalies syndrome | -| GARD:18832 | Incessant infant ventricular tachycardia | -| GARD:10899 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | -| GARD:15962 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | -| GARD:15963 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | -| GARD:3896 | Inclusion body myositis | -| GARD:20364 | Inclusion myopathy | -| GARD:22394 | Incomplete septal cirrhosis | -| GARD:6778 | Incontinentia pigmenti | -| GARD:20022 | Indeterminate cell histiocytosis | -| GARD:21244 | Indolent B-cell non-Hodgkin lymphoma | -| GARD:20164 | Indolent primary cutaneous B-cell lymphoma | -| GARD:20161 | Indolent primary cutaneous T-cell lymphoma | -| GARD:19595 | Indolent systemic mastocytosis | -| GARD:2303 | Indomethacin embryofetopathy | -| GARD:112 | Infant acute respiratory distress syndrome | -| GARD:20150 | Infant botulism | -| GARD:20343 | Infantile Krabbe disease | -| GARD:4648 | Infantile Refsum disease | -| GARD:6779 | Infantile apnea | -| GARD:5040 | Infantile bilateral striatal necrosis | -| GARD:13264 | Infantile cerebellar-retinal degeneration | -| GARD:10995 | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | -| GARD:1313 | Infantile choroidocerebral calcification syndrome | -| GARD:8553 | Infantile convulsions and choreoathetosis | -| GARD:8487 | Infantile digital fibromatosis | -| GARD:10484 | Infantile dystonia-parkinsonism | -| GARD:19436 | Infantile epilepsy syndrome | -| GARD:17582 | Infantile epileptic-dyskinetic encephalopathy | -| GARD:17333 | Infantile glycine encephalopathy | -| GARD:20453 | Infantile hemangioma of rare localization | -| GARD:12892 | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | -| GARD:17192 | Infantile hypophosphatasia | -| GARD:17962 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | -| GARD:18000 | Infantile inflammatory bowel disease with neurological involvement | -| GARD:13113 | Infantile liver failure syndrome 2 | -| GARD:16483 | Infantile liver failure syndrome 3 | -| GARD:20653 | Infantile mercury poisoning | -| GARD:17791 | Infantile multisystem neurologic-endocrine-pancreatic disease | -| GARD:2998 | Infantile myofibromatosis | -| GARD:16825 | Infantile nephronophthisis | -| GARD:9755 | Infantile nephropathic cystinosis | -| GARD:3957 | Infantile neuroaxonal dystrophy | -| GARD:9447 | Infantile neuronal ceroid lipofuscinosis | -| GARD:7206 | Infantile neurovisceral acid sphingomyelinase deficiency | -| GARD:20694 | Infantile onset panniculitis with uveitis and systemic granulomatosis | -| GARD:10082 | Infantile osteopetrosis with neuroaxonal dysplasia | -| GARD:7887 | Infantile spasms syndrome | -| GARD:3002 | Infantile spasms-broad thumbs syndrome | -| GARD:20899 | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | -| GARD:6807 | Infantile systemic hyalinosis | -| GARD:8521 | Infantile-onset X-linked spinal muscular atrophy | -| GARD:4914 | Infantile-onset ascending hereditary spastic paralysis | -| GARD:4954 | Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | -| GARD:21904 | Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome | -| GARD:17905 | Infantile-onset generalized dyskinesia with orofacial involvement | -| GARD:21619 | Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression | -| GARD:13198 | Infantile-onset periodic fever-panniculitis-dermatosis syndrome | -| GARD:22313 | Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia | -| GARD:4062 | Infantile-onset spinocerebellar ataxia | -| GARD:22234 | Infection-related hemolytic uremic syndrome | -| GARD:21067 | Infectious anterior uveitis | -| GARD:19386 | Infectious disease of the nervous system | -| GARD:19489 | Infectious disease with dementia | -| GARD:20092 | Infectious disease with epilepsy | -| GARD:20357 | Infectious disease with peripheral neuropathy | -| GARD:20626 | Infectious embryofetopathy | -| GARD:19433 | Infectious encephalitis | -| GARD:19877 | Infectious epithelial keratitis | -| GARD:21068 | Infectious panuveitis | -| GARD:21066 | Infectious posterior uveitis | -| GARD:20376 | Infectious, fungal or parasitic myopathy | -| GARD:21135 | Infective dermatitis associated with HTLV-1 | -| GARD:6337 | Infective endocarditis | -| GARD:22085 | Infective keratitis | -| GARD:19664 | Inferior vena cava interruption without azygos continuation | -| GARD:20090 | Inflammatory and autoimmune disease with epilepsy | -| GARD:18342 | Inflammatory bowel disease 25, autosomal recessive | -| GARD:18343 | Inflammatory bowel disease 28, autosomal recessive | -| GARD:22205 | Inflammatory bowel disease-recurrent sinopulmonary infections syndrome | -| GARD:5484 | Inflammatory linear verrucous epidermal nevus | -| GARD:7146 | Inflammatory myofibroblastic tumor | -| GARD:20663 | Inflammatory myopathy with abundant macrophages | -| GARD:19098 | Inflammatory pseudotumor of the liver | -| GARD:18429 | Inflammatory skin and bowel disease, neonatal, 1 | -| GARD:18430 | Inflammatory skin and bowel disease, neonatal, 2 | -| GARD:22078 | Inflammatory/autoimmune disorder involving the lacrimal system | -| GARD:20632 | Infundibulo-neurohypophysitis | -| GARD:20657 | Inhalational anthrax | -| GARD:20746 | Inhalational botulism | -| GARD:17307 | Inherited Creutzfeldt-Jakob disease | -| GARD:17450 | Inherited acute myeloid leukemia | -| GARD:19921 | Inherited cancer-predisposing syndrome | -| GARD:17449 | Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations | -| GARD:17109 | Inherited congenital spastic tetraplegia | -| GARD:21793 | Inherited digestive cancer-predisposing syndrome | -| GARD:18992 | Inherited epidermolysis bullosa | -| GARD:22360 | Inherited gynecological cancer-predisposing syndrome | -| GARD:22461 | Inherited hematologic cancer-predisposing syndrome | -| GARD:21085 | Inherited human prion disease | -| GARD:20261 | Inherited ichthyosis | -| GARD:21105 | Inherited ichthyosis syndromic form | -| GARD:21143 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | -| GARD:20742 | Inherited nervous system cancer-predisposing syndrome | -| GARD:21104 | Inherited non-syndromic ichthyosis | -| GARD:21420 | Inherited renal cancer-predisposing syndrome | -| GARD:18916 | Inherited retinal disorder | -| GARD:10506 | Iniencephaly | -| GARD:10808 | Insulin autoimmune syndrome | -| GARD:3008 | Insulin-resistance syndrome type A | -| GARD:3009 | Insulin-resistance syndrome type B | -| GARD:3010 | Insulinoma | -| GARD:16306 | Intellectual developmental disorder and retinitis pigmentosa | -| GARD:18516 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | -| GARD:18512 | Intellectual developmental disorder with autism and speech delay | -| GARD:18522 | Intellectual developmental disorder with autistic features and language delay, with or without seizures | -| GARD:18529 | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | -| GARD:18520 | Intellectual developmental disorder with impaired language and dysmorphic facies | -| GARD:18527 | Intellectual developmental disorder with seizures and language delay | -| GARD:18518 | Intellectual developmental disorder with severe speech and ambulation defects | -| GARD:22581 | Intellectual developmental disorder with short stature and behavioral abnormalities | -| GARD:18536 | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy | -| GARD:18623 | Intellectual developmental disorder, autosomal dominant 1 | -| GARD:16460 | Intellectual developmental disorder, autosomal dominant 10 | -| GARD:16462 | Intellectual developmental disorder, autosomal dominant 13 | -| GARD:16458 | Intellectual developmental disorder, autosomal dominant 2 | -| GARD:13379 | Intellectual developmental disorder, autosomal dominant 29 | -| GARD:16454 | Intellectual developmental disorder, autosomal dominant 3 | -| GARD:13136 | Intellectual developmental disorder, autosomal dominant 30 | -| GARD:16082 | Intellectual developmental disorder, autosomal dominant 33 | -| GARD:16469 | Intellectual developmental disorder, autosomal dominant 38 | -| GARD:16455 | Intellectual developmental disorder, autosomal dominant 4 | -| GARD:18501 | Intellectual developmental disorder, autosomal dominant 42 | -| GARD:13179 | Intellectual developmental disorder, autosomal dominant 43 | -| GARD:12558 | Intellectual developmental disorder, autosomal dominant 5 | -| GARD:16472 | Intellectual developmental disorder, autosomal dominant 52 | -| GARD:16473 | Intellectual developmental disorder, autosomal dominant 53 | -| GARD:16474 | Intellectual developmental disorder, autosomal dominant 54 | -| GARD:16260 | Intellectual developmental disorder, autosomal dominant 55, with seizures | -| GARD:13524 | Intellectual developmental disorder, autosomal dominant 56 | -| GARD:16476 | Intellectual developmental disorder, autosomal dominant 58 | -| GARD:12851 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | -| GARD:16367 | Intellectual developmental disorder, autosomal dominant 60, with seizures | -| GARD:18514 | Intellectual developmental disorder, autosomal dominant 61 | -| GARD:16478 | Intellectual developmental disorder, autosomal dominant 64 | -| GARD:18547 | Intellectual developmental disorder, autosomal dominant 65 | -| GARD:22537 | Intellectual developmental disorder, autosomal recessive 1 | -| GARD:22545 | Intellectual developmental disorder, autosomal recessive 10 | -| GARD:22546 | Intellectual developmental disorder, autosomal recessive 11 | -| GARD:22540 | Intellectual developmental disorder, autosomal recessive 12 | -| GARD:22548 | Intellectual developmental disorder, autosomal recessive 13 | -| GARD:22549 | Intellectual developmental disorder, autosomal recessive 14 | -| GARD:22551 | Intellectual developmental disorder, autosomal recessive 16 | -| GARD:22552 | Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy | -| GARD:22558 | Intellectual developmental disorder, autosomal recessive 19 | -| GARD:22538 | Intellectual developmental disorder, autosomal recessive 2 | -| GARD:22559 | Intellectual developmental disorder, autosomal recessive 23 | -| GARD:22560 | Intellectual developmental disorder, autosomal recessive 24 | -| GARD:22561 | Intellectual developmental disorder, autosomal recessive 25 | -| GARD:22555 | Intellectual developmental disorder, autosomal recessive 27 | -| GARD:22562 | Intellectual developmental disorder, autosomal recessive 28 | -| GARD:22554 | Intellectual developmental disorder, autosomal recessive 29 | -| GARD:22539 | Intellectual developmental disorder, autosomal recessive 3 | -| GARD:22557 | Intellectual developmental disorder, autosomal recessive 30 | -| GARD:22553 | Intellectual developmental disorder, autosomal recessive 31 | -| GARD:22556 | Intellectual developmental disorder, autosomal recessive 33 | -| GARD:22563 | Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly | -| GARD:22547 | Intellectual developmental disorder, autosomal recessive 4 | -| GARD:22565 | Intellectual developmental disorder, autosomal recessive 43 | -| GARD:22566 | Intellectual developmental disorder, autosomal recessive 44 | -| GARD:22567 | Intellectual developmental disorder, autosomal recessive 45 | -| GARD:22568 | Intellectual developmental disorder, autosomal recessive 46 | -| GARD:22569 | Intellectual developmental disorder, autosomal recessive 47 | -| GARD:22541 | Intellectual developmental disorder, autosomal recessive 5 | -| GARD:22570 | Intellectual developmental disorder, autosomal recessive 50 | -| GARD:22571 | Intellectual developmental disorder, autosomal recessive 51 | -| GARD:22572 | Intellectual developmental disorder, autosomal recessive 52 | -| GARD:22573 | Intellectual developmental disorder, autosomal recessive 54 | -| GARD:22574 | Intellectual developmental disorder, autosomal recessive 56 | -| GARD:22575 | Intellectual developmental disorder, autosomal recessive 57 | -| GARD:22542 | Intellectual developmental disorder, autosomal recessive 6 | -| GARD:16475 | Intellectual developmental disorder, autosomal recessive 63 | -| GARD:22578 | Intellectual developmental disorder, autosomal recessive 65 | -| GARD:22579 | Intellectual developmental disorder, autosomal recessive 66 | -| GARD:22543 | Intellectual developmental disorder, autosomal recessive 7 | -| GARD:22580 | Intellectual developmental disorder, autosomal recessive 70 | -| GARD:16208 | Intellectual developmental disorder, autosomal recessive 74 | -| GARD:22544 | Intellectual developmental disorder, autosomal recessive 9 | -| GARD:22699 | Intellectual developmental disorder, x-linked 1 | -| GARD:22694 | Intellectual developmental disorder, x-linked 101 | -| GARD:22696 | Intellectual developmental disorder, x-linked 104 | -| GARD:22697 | Intellectual developmental disorder, x-linked 105 | -| GARD:22698 | Intellectual developmental disorder, x-linked 107 | -| GARD:8557 | Intellectual developmental disorder, x-linked 14 | -| GARD:22687 | Intellectual developmental disorder, x-linked 19 | -| GARD:22675 | Intellectual developmental disorder, x-linked 2 | -| GARD:22667 | Intellectual developmental disorder, x-linked 20 | -| GARD:22669 | Intellectual developmental disorder, x-linked 21 | -| GARD:22666 | Intellectual developmental disorder, x-linked 23 | -| GARD:5614 | Intellectual developmental disorder, x-linked 29 | -| GARD:22682 | Intellectual developmental disorder, x-linked 30 | -| GARD:22689 | Intellectual developmental disorder, x-linked 41 | -| GARD:22674 | Intellectual developmental disorder, x-linked 42 | -| GARD:22679 | Intellectual developmental disorder, x-linked 45 | -| GARD:22677 | Intellectual developmental disorder, x-linked 46 | -| GARD:22668 | Intellectual developmental disorder, x-linked 50 | -| GARD:22672 | Intellectual developmental disorder, x-linked 53 | -| GARD:22670 | Intellectual developmental disorder, x-linked 58 | -| GARD:5613 | Intellectual developmental disorder, x-linked 63 | -| GARD:22671 | Intellectual developmental disorder, x-linked 72 | -| GARD:22673 | Intellectual developmental disorder, x-linked 73 | -| GARD:22678 | Intellectual developmental disorder, x-linked 77 | -| GARD:22676 | Intellectual developmental disorder, x-linked 81 | -| GARD:22680 | Intellectual developmental disorder, x-linked 84 | -| GARD:22700 | Intellectual developmental disorder, x-linked 9 | -| GARD:22690 | Intellectual developmental disorder, x-linked 90 | -| GARD:22684 | Intellectual developmental disorder, x-linked 95 | -| GARD:22685 | Intellectual developmental disorder, x-linked 96 | -| GARD:22686 | Intellectual developmental disorder, x-linked 97 | -| GARD:22693 | Intellectual developmental disorder, x-linked 99 | -| GARD:15282 | Intellectual developmental disorder, x-linked, syndromic, houge type | -| GARD:15254 | Intellectual developmental disorder, x-linked, syndromic, lubs type | -| GARD:15264 | Intellectual developmental disorder, x-linked, syndromic, raymond type | -| GARD:81 | Intellectual developmental disorder, x-linked, syndromic, turner type | -| GARD:21926 | Intellectual disability syndrome due to a DYRK1A point mutation | -| GARD:10358 | Intellectual disability, Birk-Barel type | -| GARD:3485 | Intellectual disability, Buenos-Aires type | -| GARD:3530 | Intellectual disability, Wolff type | -| GARD:17326 | Intellectual disability-alacrima-achalasia syndrome | -| GARD:17970 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | -| GARD:257 | Intellectual disability-balding-patella luxation-acromicria syndrome | -| GARD:17583 | Intellectual disability-brachydactyly-Pierre Robin syndrome | -| GARD:17948 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | -| GARD:4488 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | -| GARD:20128 | Intellectual disability-cataracts-kyphosis syndrome | -| GARD:17636 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | -| GARD:13043 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | -| GARD:7890 | Intellectual disability-developmental delay-contractures syndrome | -| GARD:9811 | Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome | -| GARD:13474 | Intellectual disability-epilepsy-extrapyramidal syndrome | -| GARD:17724 | Intellectual disability-expressive aphasia-facial dysmorphism syndrome | -| GARD:17673 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | -| GARD:21585 | Intellectual disability-facial dysmorphism-hand anomalies syndrome | -| GARD:21579 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | -| GARD:12487 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | -| GARD:21379 | Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome | -| GARD:3521 | Intellectual disability-hypotonic facies syndrome, x-linked, 1 | -| GARD:17802 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | -| GARD:21906 | Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome | -| GARD:1358 | Intellectual disability-myopathy-short stature-endocrine defect syndrome | -| GARD:21521 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | -| GARD:17648 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | -| GARD:3141 | Intellectual disability-polydactyly-uncombable hair syndrome | -| GARD:17953 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | -| GARD:17584 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | -| GARD:21583 | Intellectual disability-seizures-macrocephaly-obesity syndrome | -| GARD:12501 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | -| GARD:3514 | Intellectual disability-short stature-hypertelorism syndrome | -| GARD:3523 | Intellectual disability-spasticity-ectrodactyly syndrome | -| GARD:17563 | Intellectual disability-strabismus syndrome | -| GARD:15018 | Interatrial communication | -| GARD:21180 | Intercalary limb defects | -| GARD:16765 | Interdigitating dendritic cell sarcoma | -| GARD:21954 | Intermediate Charcot-Marie-Tooth disease | -| GARD:19724 | Intermediate DEND syndrome | -| GARD:22325 | Intermediate atrioventricular septal defect | -| GARD:17951 | Intermediate epidermolysis bullosa simplex with cardiomyopathy | -| GARD:12922 | Intermediate generalized junctional epidermolysis bullosa | -| GARD:17264 | Intermediate maple syrup urine disease | -| GARD:12823 | Intermediate nemaline myopathy | -| GARD:4156 | Intermediate osteopetrosis | -| GARD:10871 | Intermediate severe Salla disease | -| GARD:21065 | Intermediate uveitis | -| GARD:21499 | Intermittent hydrarthrosis | -| GARD:17265 | Intermittent maple syrup urine disease | -| GARD:3012 | Internal carotid absence | -| GARD:18825 | Interstitial cystitis | -| GARD:18940 | Interstitial granulomatous dermatitis with arthritis | -| GARD:20244 | Interstitial lung disease | -| GARD:17745 | Interstitial lung disease due to ABCA3 deficiency | -| GARD:17744 | Interstitial lung disease due to SP-C deficiency | -| GARD:20934 | Interstitial lung disease in childhood and adulthood | -| GARD:20931 | Interstitial lung disease specific to adulthood | -| GARD:20921 | Interstitial lung disease specific to childhood | -| GARD:20925 | Interstitial lung disease specific to infancy | -| GARD:17377 | Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome | -| GARD:18205 | Interstitial pneumonitis, desquamative, familial | -| GARD:16895 | Interventricular septum aneurysm | -| GARD:20151 | Intestinal botulism | -| GARD:19843 | Intestinal disease due to fat malabsorption | -| GARD:19842 | Intestinal disease due to vitamin absorption anomaly | -| GARD:12331 | Intestinal lymphangiectasia | -| GARD:19384 | Intestinal malformation | -| GARD:17418 | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | -| GARD:19847 | Intestinal polyposis syndrome | -| GARD:3017 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked | -| GARD:18918 | Intractable diarrhea of infancy | -| GARD:19882 | Intractable diarrhea-choanal atresia-eye anomalies syndrome | -| GARD:21779 | Intraductal papillary mucinous carcinoma of pancreas | -| GARD:22331 | Intraductal tubulopapillary neoplasm of pancreas | -| GARD:9804 | Intrahepatic cholestasis of pregnancy | -| GARD:21090 | Intralobar congenital pulmonary sequestration | -| GARD:10921 | Intraneural perineurioma | -| GARD:20945 | Intraocular medulloepithelioma | -| GARD:17949 | Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome | -| GARD:21818 | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | -| GARD:5593 | Intrauterine growth retardation with increased mitomycin c sensitivity | -| GARD:19590 | Intravascular large B-cell lymphoma | -| GARD:15190 | Intrinsic factor and r binder, combined congenital deficiency of | -| GARD:19120 | Invasive infections due to vancomycin-resistant enterococci | -| GARD:19711 | Invasive mole | -| GARD:21449 | Invasive non-typhoidal salmonellosis | -| GARD:21488 | Inverse Klippel-Trénaunay syndrome | -| GARD:19608 | Inverse Marcus-Gunn phenomenon | -| GARD:5153 | Inverted duplicated chromosome 15 syndrome | -| GARD:60 | Iridocorneal endothelial syndrome | -| GARD:6793 | Isaacs syndrome | -| GARD:19052 | Ischiovertebral syndrome | -| GARD:10223 | Isobutyryl-CoA dehydrogenase deficiency | -| GARD:19349 | Isochromosome Y | -| GARD:19579 | Isochromosomy Yp | -| GARD:19580 | Isochromosomy Yq | -| GARD:18649 | Isolated ATP synthase deficiency | -| GARD:6242 | Isolated Dandy-Walker malformation | -| GARD:20993 | Isolated Dandy-Walker malformation with hydrocephalus | -| GARD:20994 | Isolated Dandy-Walker malformation without hydrocephalus | -| GARD:10280 | Isolated Klippel-Feil syndrome | -| GARD:4347 | Isolated Pierre Robin syndrome | -| GARD:17155 | Isolated agammaglobulinemia | -| GARD:21844 | Isolated agenesis of gallbladder | -| GARD:20976 | Isolated amyelia | -| GARD:22254 | Isolated anencephaly | -| GARD:5808 | Isolated anencephaly/exencephaly | -| GARD:5816 | Isolated aniridia | -| GARD:19168 | Isolated ankyloblepharon filiforme adnatum | -| GARD:8438 | Isolated anterior cervical hypertrichosis | -| GARD:20979 | Isolated arhinencephaly | -| GARD:364 | Isolated arrhinia | -| GARD:20356 | Isolated asymptomatic elevation of creatine phosphokinase | -| GARD:20334 | Isolated autosomal dominant hypomagnesemia, Glaudemans type | -| GARD:20996 | Isolated bilateral hemispheric cerebellar hypoplasia | -| GARD:12010 | Isolated biliary atresia | -| GARD:22124 | Isolated blepharochalasis | -| GARD:20037 | Isolated bone marrow mastocytosis | -| GARD:18720 | Isolated cerebellar agenesis | -| GARD:20990 | Isolated cerebellar vermis agenesis | -| GARD:20337 | Isolated cerebellar vermis hypoplasia | -| GARD:12889 | Isolated childhood apraxia of speech | -| GARD:22096 | Isolated chorioretinal dystrophy | -| GARD:17091 | Isolated cleft lip | -| GARD:3908 | Isolated complex I deficiency | -| GARD:8295 | Isolated complex III deficiency | -| GARD:12550 | Isolated congenital adermatoglyphia | -| GARD:22263 | Isolated congenital aglossia | -| GARD:16799 | Isolated congenital alacrima | -| GARD:10048 | Isolated congenital anonychia | -| GARD:9486 | Isolated congenital anosmia | -| GARD:20040 | Isolated congenital auditory ossicle malformation | -| GARD:9489 | Isolated congenital breast hypoplasia/aplasia | -| GARD:17117 | Isolated congenital digital clubbing | -| GARD:19673 | Isolated congenital ectropion | -| GARD:22123 | Isolated congenital entropion | -| GARD:21995 | Isolated congenital hepatic fibrosis | -| GARD:22264 | Isolated congenital hypoglossia | -| GARD:16972 | Isolated congenital hypoglossia/aglossia | -| GARD:20643 | Isolated congenital hypogonadotropic hypogonadism | -| GARD:12648 | Isolated congenital megalocornea | -| GARD:3603 | Isolated congenital microcephaly | -| GARD:20039 | Isolated congenital nasal pyriform aperture stenosis | -| GARD:9761 | Isolated congenital onychodysplasia | -| GARD:21210 | Isolated congenital radial head dislocation | -| GARD:16800 | Isolated congenital sclerocornea | -| GARD:19962 | Isolated congenital syngnathia | -| GARD:20502 | Isolated congenitally uncorrected transposition of the great arteries | -| GARD:21968 | Isolated constitutional thrombocytopenia | -| GARD:18681 | Isolated corpus callosum agenesis | -| GARD:16797 | Isolated cryptophthalmia | -| GARD:48 | Isolated cytochrome C oxidase deficiency | -| GARD:20674 | Isolated delta-storage pool disease | -| GARD:21290 | Isolated diffuse palmoplantar keratoderma | -| GARD:16899 | Isolated distichiasis | -| GARD:19985 | Isolated dystonia | -| GARD:12251 | Isolated ectopia lentis | -| GARD:6333 | Isolated encephalocele | -| GARD:19235 | Isolated epispadias | -| GARD:22255 | Isolated exencephaly | -| GARD:22434 | Isolated female hypospadias | -| GARD:16671 | Isolated focal cortical dysplasia | -| GARD:20983 | Isolated focal cortical dysplasia type I | -| GARD:10190 | Isolated focal cortical dysplasia type II | -| GARD:17270 | Isolated focal cortical dysplasia type IIa | -| GARD:17271 | Isolated focal cortical dysplasia type IIb | -| GARD:20984 | Isolated focal cortical dysplasia type Ia | -| GARD:20985 | Isolated focal cortical dysplasia type Ib | -| GARD:20986 | Isolated focal cortical dysplasia type Ic | -| GARD:17781 | Isolated focal non-epidermolytic palmoplantar keratoderma | -| GARD:21295 | Isolated focal palmoplantar keratoderma | -| GARD:10128 | Isolated follicle stimulating hormone deficiency | -| GARD:22127 | Isolated foveal hypoplasia | -| GARD:17843 | Isolated generalized anhidrosis with normal sweat glands | -| GARD:2807 | Isolated glycerol kinase deficiency | -| GARD:7399 | Isolated growth hormone deficiency type IA | -| GARD:3919 | Isolated growth hormone deficiency type IB | -| GARD:1696 | Isolated growth hormone deficiency type II | -| GARD:3921 | Isolated growth hormone deficiency type III | -| GARD:18997 | Isolated hair shaft abnormality | -| GARD:2630 | Isolated hemihyperplasia | -| GARD:8583 | Isolated hereditary congenital facial paralysis | -| GARD:20539 | Isolated hereditary giant platelet disorder | -| GARD:17984 | Isolated hyperchlorhidrosis | -| GARD:22136 | Isolated inherited retinal disorder | -| GARD:22125 | Isolated iridoschisis | -| GARD:18715 | Isolated lissencephaly type 1 without known genetic defects | -| GARD:22097 | Isolated macular dystrophy | -| GARD:20977 | Isolated megalencephaly | -| GARD:22129 | Isolated megalopapilla | -| GARD:22368 | Isolated melanotic schwannoma | -| GARD:22339 | Isolated mesenteric vein thrombosis | -| GARD:12085 | Isolated microphthalmia-anophthalmia-coloboma | -| GARD:22126 | Isolated microspherophakia | -| GARD:19000 | Isolated nail anomaly | -| GARD:21983 | Isolated neonatal sclerosing cholangitis | -| GARD:8419 | Isolated optic nerve hypoplasia/aplasia | -| GARD:22039 | Isolated optic neuritis | -| GARD:22377 | Isolated optic neuritis with anti-MOG antibodies | -| GARD:22376 | Isolated optic neuritis without anti-MOG antibodies | -| GARD:17027 | Isolated osteopoikilosis | -| GARD:20766 | Isolated oxidative phosphorylation complex disorder | -| GARD:20992 | Isolated partial cerebellar vermis agenesis | -| GARD:19347 | Isolated partial vaginal agenesis | -| GARD:10457 | Isolated permanent neonatal diabetes mellitus | -| GARD:9457 | Isolated polycystic liver disease | -| GARD:22099 | Isolated progressive inherited retinal disorder | -| GARD:20924 | Isolated pulmonary capillaritis | -| GARD:18768 | Isolated punctate palmoplantar keratoderma | -| GARD:4721 | Isolated right ventricular hypoplasia | -| GARD:18652 | Isolated sedoheptulokinase deficiency | -| GARD:7673 | Isolated spina bifida | -| GARD:22338 | Isolated splenic vein thrombosis | -| GARD:21903 | Isolated splenogonadal fusion | -| GARD:6319 | Isolated split hand-split foot malformation | -| GARD:22105 | Isolated stationary inherited retinal disorder | -| GARD:20144 | Isolated sternocostoclavicular hyperostosis | -| GARD:5053 | Isolated succinate-CoQ reductase deficiency | -| GARD:5062 | Isolated sulfite oxidase deficiency | -| GARD:10129 | Isolated thyroid-stimulating hormone deficiency | -| GARD:17179 | Isolated thyrotropin-releasing hormone deficiency | -| GARD:20991 | Isolated total cerebellar vermis agenesis | -| GARD:21895 | Isolated tracheoesophageal fistula | -| GARD:20995 | Isolated unilateral hemispheric cerebellar hypoplasia | -| GARD:22098 | Isolated vitreoretinopathy | -| GARD:3033 | Isosporiasis | -| GARD:18765 | Isotretinoin syndrome | -| GARD:9675 | Isotretinoin-like syndrome | -| GARD:465 | Isovaleric acidemia | -| GARD:6796 | Jackson-Weiss syndrome | -| GARD:307 | Jacobsen syndrome | -| GARD:1463 | Jalili syndrome | -| GARD:6797 | Japanese encephalitis | -| GARD:17410 | Jawad syndrome | -| GARD:19916 | Jeavons syndrome | -| GARD:19752 | Jejunal neuroendocrine tumor | -| GARD:3048 | Jervell and Lange-Nielsen syndrome | -| GARD:10364 | Jervell and lange-nielsen syndrome 2 | -| GARD:6940 | Jessner lymphocytic infiltration of the skin | -| GARD:3049 | Jeune syndrome | -| GARD:80 | Johanson-Blizzard syndrome | -| GARD:378 | Johnson neuroectodermal syndrome | -| GARD:21183 | Joint formation defects | -| GARD:6802 | Joubert syndrome | -| GARD:15265 | Joubert syndrome 10 | -| GARD:15765 | Joubert syndrome 13 | -| GARD:15801 | Joubert syndrome 14 | -| GARD:15806 | Joubert syndrome 15 | -| GARD:15807 | Joubert syndrome 16 | -| GARD:15824 | Joubert syndrome 17 | -| GARD:15843 | Joubert syndrome 18 | -| GARD:10167 | Joubert syndrome 2 | -| GARD:15887 | Joubert syndrome 20 | -| GARD:15997 | Joubert syndrome 21 | -| GARD:15999 | Joubert syndrome 22 | -| GARD:16124 | Joubert syndrome 23 | -| GARD:16150 | Joubert syndrome 24 | -| GARD:16159 | Joubert syndrome 25 | -| GARD:16160 | Joubert syndrome 26 | -| GARD:16194 | Joubert syndrome 27 | -| GARD:16195 | Joubert syndrome 28 | -| GARD:15435 | Joubert syndrome 3 | -| GARD:16243 | Joubert syndrome 30 | -| GARD:16251 | Joubert syndrome 31 | -| GARD:16297 | Joubert syndrome 35 | -| GARD:16376 | Joubert syndrome 36 | -| GARD:16434 | Joubert syndrome 37 | -| GARD:15465 | Joubert syndrome 4 | -| GARD:15475 | Joubert syndrome 5 | -| GARD:15494 | Joubert syndrome 6 | -| GARD:15519 | Joubert syndrome 7 | -| GARD:15550 | Joubert syndrome 8 | -| GARD:15549 | Joubert syndrome 9 | -| GARD:19931 | Joubert syndrome and related disorders | -| GARD:17637 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | -| GARD:1410 | Joubert syndrome with hepatic defect | -| GARD:10168 | Joubert syndrome with ocular defect | -| GARD:9455 | Joubert syndrome with oculorenal defect | -| GARD:10169 | Joubert syndrome with renal defect | -| GARD:3060 | Juberg-Hayward syndrome | -| GARD:2152 | Junctional epidermolysis bullosa | -| GARD:2143 | Junctional epidermolysis bullosa inversa | -| GARD:9694 | Junctional epidermolysis bullosa with pyloric atresia | -| GARD:3062 | Jung syndrome | -| GARD:10510 | Juvenile Huntington disease | -| GARD:2831 | Juvenile Paget disease | -| GARD:2162 | Juvenile absence epilepsy | -| GARD:11901 | Juvenile amyotrophic lateral sclerosis | -| GARD:16382 | Juvenile arthritis | -| GARD:17196 | Juvenile cataract-microcornea-renal glucosuria syndrome | -| GARD:6805 | Juvenile dermatomyositis | -| GARD:16883 | Juvenile glaucoma | -| GARD:16583 | Juvenile hyaline fibromatosis | -| GARD:18677 | Juvenile idiopathic arthritis | -| GARD:21496 | Juvenile idiopathic inflammatory myopathy | -| GARD:21624 | Juvenile myasthenia gravis | -| GARD:9884 | Juvenile myelomonocytic leukemia | -| GARD:6808 | Juvenile myoclonic epilepsy | -| GARD:21144 | Juvenile nasopharyngeal angiofibroma | -| GARD:18645 | Juvenile nephronophthisis | -| GARD:17685 | Juvenile nephropathic cystinosis | -| GARD:4938 | Juvenile neuronal ceroid lipofuscinosis | -| GARD:16980 | Juvenile or adult CACH syndrome | -| GARD:21497 | Juvenile overlap myositis | -| GARD:12742 | Juvenile polymyositis | -| GARD:16696 | Juvenile polyposis of infancy | -| GARD:3065 | Juvenile polyposis syndrome | -| GARD:4485 | Juvenile primary lateral sclerosis | -| GARD:19183 | Juvenile sialidosis type 2 | -| GARD:3068 | Juvenile temporal arteritis | -| GARD:20020 | Juvenile xanthogranuloma | -| GARD:22363 | Juvenile-onset Steinert myotonic dystrophy | -| GARD:17768 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | -| GARD:19648 | Juxtaposition of the atrial appendages | -| GARD:22399 | KAT6B-related multiple congenital anomalies syndrome | -| GARD:82 | KBG syndrome | -| GARD:13060 | KCNQ2-related epileptic encephalopathy | -| GARD:16744 | KDM5C-related syndromic X-linked intellectual disability | -| GARD:18022 | KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome | -| GARD:3113 | KID syndrome | -| GARD:22436 | KLHL7-related Bohring-Opitz-like syndrome | -| GARD:22435 | KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome | -| GARD:22437 | KLHL7-related cold-induced sweating-like syndrome | -| GARD:22438 | KLHL7-related disorder | -| GARD:21655 | KLHL9-related early-onset distal myopathy | -| GARD:5186 | KRT1-related diffuse nonepidermolytic keratoderma | -| GARD:6810 | Kabuki syndrome | -| GARD:15270 | Kabuki syndrome 2 | -| GARD:17219 | Kagami-Ogata syndrome | -| GARD:17223 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | -| GARD:17221 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | -| GARD:5409 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | -| GARD:10771 | Kallmann syndrome | -| GARD:18767 | Kallmann syndrome-heart disease syndrome | -| GARD:16900 | Kandori fleck retina | -| GARD:6814 | Kaposi sarcoma | -| GARD:15080 | Kaposi sarcoma, susceptibility to | -| GARD:3077 | Kaposiform hemangioendothelioma | -| GARD:13451 | Kaposiform lymphangiomatosis | -| GARD:3078 | Kapur-Toriello syndrome | -| GARD:4967 | Karsch-Neugebauer syndrome | -| GARD:11003 | Karyomegalic interstitial nephritis | -| GARD:70 | Kasabach-Merritt syndrome | -| GARD:6816 | Kawasaki disease | -| GARD:18537 | Kaya-barakat-masson syndrome | -| GARD:6817 | Kearns-Sayre syndrome | -| GARD:267 | Keipert syndrome | -| GARD:6818 | Kennedy disease | -| GARD:16594 | Kenny-Caffey syndrome | -| GARD:17716 | Keppen-Lubinsky syndrome | -| GARD:21107 | Keratinopathic ichthyosis | -| GARD:2946 | Keratitis-ichthyosis-deafness syndrome, autosomal recessive | -| GARD:21870 | Keratocystic odontogenic tumor | -| GARD:3092 | Keratoderma hereditarium mutilans | -| GARD:16719 | Keratoderma hereditarium mutilans with ichthyosis | -| GARD:8275 | Keratolytic winter erythema | -| GARD:6829 | Keratosis follicularis spinulosa decalvans | -| GARD:15586 | Keratosis follicularis spinulosa decalvans, autosomal dominant | -| GARD:15299 | Keratosis follicularis spinulosa decalvans, x-linked | -| GARD:3099 | Keratosis follicularis-dwarfism-cerebral atrophy syndrome | -| GARD:17306 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | -| GARD:16766 | Keratosis palmaris et plantaris-clinodactyly syndrome | -| GARD:15590 | Keratosis palmoplantaris striata ii | -| GARD:9173 | Keratosis palmoplantaris striata iii | -| GARD:18694 | Keratosis pilaris atrophicans | -| GARD:3109 | Kerion celsi | -| GARD:21169 | Ketamine-induced biliary dilatation | -| GARD:17733 | Ketoacidosis due to monocarboxylate transporter-1 deficiency | -| GARD:8449 | Keutel syndrome | -| GARD:18920 | Kidney tubulopathy-dilated cardiomyopathy syndrome | -| GARD:9690 | Kienbock disease | -| GARD:6834 | Kikuchi-Fujimoto disease | -| GARD:6835 | Kimura disease | -| GARD:4391 | Kindler epidermolysis bullosa | -| GARD:8433 | King-Denborough syndrome | -| GARD:10175 | Klatskin tumor | -| GARD:8672 | Kleefstra syndrome | -| GARD:18382 | Kleefstra syndrome 2 | -| GARD:16846 | Kleefstra syndrome due to 9q34 microdeletion | -| GARD:17253 | Kleefstra syndrome due to a point mutation | -| GARD:3117 | Kleine-Levin syndrome | -| GARD:17778 | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | -| GARD:16788 | Klippel-Trénaunay syndrome | -| GARD:15049 | Klippel-feil syndrome 1, autosomal dominant | -| GARD:15151 | Klippel-feil syndrome 2, autosomal recessive | -| GARD:15691 | Klippel-feil syndrome 3, autosomal dominant | -| GARD:6840 | Klüver-Bucy syndrome | -| GARD:6841 | Kniest dysplasia | -| GARD:380 | Knobloch syndrome | -| GARD:3125 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | -| GARD:19637 | Kommerell diverticulum | -| GARD:10727 | Koolen-De Vries syndrome | -| GARD:21559 | Koolen-De Vries syndrome due to a point mutation | -| GARD:17860 | Kosaki overgrowth syndrome | -| GARD:302 | Kostmann syndrome | -| GARD:4752 | Kousseff syndrome | -| GARD:6844 | Krabbe disease | -| GARD:9174 | Kufor-Rakeb syndrome | -| GARD:7617 | Kuru | -| GARD:15191 | Kuru, susceptibility to | -| GARD:3150 | Kuskokwim syndrome | -| GARD:8257 | Kyasanur forest disease | -| GARD:10149 | Kyphomelic dysplasia | -| GARD:22012 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | -| GARD:2083 | Kyphoscoliotic Ehlers-Danlos syndrome | -| GARD:17361 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | -| GARD:22216 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | -| GARD:17912 | Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome | -| GARD:10472 | L-2-hydroxyglutaric aciduria | -| GARD:10323 | L-Arginine:glycine amidinotransferase deficiency | -| GARD:17748 | L-ferritin deficiency | -| GARD:12524 | L1 syndrome | -| GARD:22146 | LAMA5-related multisystemic syndrome | -| GARD:16539 | LCAT deficiency | -| GARD:15000 | LIG4 syndrome | -| GARD:17834 | LIMS2-related limb-girdle muscular dystrophy | -| GARD:13126 | LIPE-related familial partial lipodystrophy | -| GARD:21555 | LMNA-related cardiocutaneous progeria syndrome | -| GARD:22031 | LRP5-related primary osteoporosis | -| GARD:19045 | LUMBAR syndrome | -| GARD:10925 | La Crosse encephalitis | -| GARD:19511 | Lacrimal drainage system anomaly | -| GARD:22164 | Lacrimal drainage system anomaly of genetic origin | -| GARD:6848 | Lacrimoauriculodentodigital syndrome | -| GARD:8214 | Lafora disease | -| GARD:10769 | Laing early-onset distal myopathy | -| GARD:22211 | Lamb-Shaffer syndrome | -| GARD:3169 | Lambert syndrome | -| GARD:6851 | Lambert-Eaton myasthenic syndrome | -| GARD:10803 | Lamellar ichthyosis | -| GARD:3843 | Laminin subunit alpha 2-related congenital muscular dystrophy | -| GARD:22270 | Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 | -| GARD:20396 | Laminin subunit alpha 2-related muscular dystrophy | -| GARD:19444 | Laminopathy | -| GARD:21242 | Laminopathy with lipodystrophy | -| GARD:21241 | Laminopathy with peripheral neuropathy | -| GARD:21243 | Laminopathy with premature aging | -| GARD:21240 | Laminopathy with striated muscle involvement | -| GARD:6855 | Landau-Kleffner syndrome | -| GARD:3553 | Langer mesomelic dysplasia | -| GARD:6858 | Langerhans cell histiocytosis | -| GARD:10491 | Langerhans cell sarcoma | -| GARD:2469 | Large congenital melanocytic nevus | -| GARD:22073 | Large granular lymphocyte leukemia | -| GARD:6859 | Laron syndrome | -| GARD:17133 | Laron syndrome with immunodeficiency | -| GARD:6860 | Larsen syndrome | -| GARD:16595 | Larsen-like osseous dysplasia-short stature syndrome | -| GARD:17308 | Larsen-like syndrome, B3GAT3 type | -| GARD:5509 | Laryngeal abductor paralysis | -| GARD:16597 | Laryngeal abductor paralysis-intellectual disability syndrome | -| GARD:19758 | Laryngeal neuroendocrine tumor | -| GARD:368 | Laryngo-onycho-cutaneous syndrome | -| GARD:3191 | Laryngocele | -| GARD:19893 | Laryngotracheal angioma | -| GARD:3188 | Laryngotracheoesophageal cleft | -| GARD:21072 | Laryngotracheoesophageal cleft type 0 | -| GARD:19236 | Laryngotracheoesophageal cleft type 1 | -| GARD:19237 | Laryngotracheoesophageal cleft type 2 | -| GARD:16833 | Laryngotracheoesophageal cleft type 3 | -| GARD:19238 | Laryngotracheoesophageal cleft type 4 | -| GARD:20001 | Larynx anomaly | -| GARD:3194 | Larynx atresia | -| GARD:19688 | Lassa fever | -| GARD:16979 | Late infantile CACH syndrome | -| GARD:17032 | Late infantile neuronal ceroid lipofuscinosis | -| GARD:20344 | Late-infantile/juvenile Krabbe disease | -| GARD:22365 | Late-onset Steinert myotonic dystrophy | -| GARD:19488 | Late-onset ataxia with dementia | -| GARD:1886 | Late-onset distal myopathy, Markesbery-Griggs type | -| GARD:22244 | Late-onset familial hypoaldosteronism | -| GARD:20578 | Late-onset focal dermal elastosis | -| GARD:20331 | Late-onset isolated ACTH deficiency | -| GARD:12921 | Late-onset junctional epidermolysis bullosa | -| GARD:299 | Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome | -| GARD:16824 | Late-onset nephronophthisis | -| GARD:21153 | Late-onset primary lymphedema without systemic or visceral involvement | -| GARD:4357 | Late-onset retinal degeneration | -| GARD:21796 | Late-onset scapuloperoneal muscular dystrophy with hyaline bodies | -| GARD:19970 | Lateral facial cleft | -| GARD:9873 | Lateral meningocele syndrome | -| GARD:9711 | Lathosterolosis | -| GARD:9678 | Lattice corneal dystrophy type I | -| GARD:19646 | Laubry-Pezzi syndrome | -| GARD:12635 | Laurence-Moon syndrome | -| GARD:155 | Laurin-Sandrow syndrome | -| GARD:21503 | Lead poisoning | -| GARD:634 | Leber congenital amaurosis | -| GARD:635 | Leber congenital amaurosis 1 | -| GARD:10487 | Leber congenital amaurosis 10 | -| GARD:10488 | Leber congenital amaurosis 11 | -| GARD:10489 | Leber congenital amaurosis 12 | -| GARD:10882 | Leber congenital amaurosis 13 | -| GARD:10883 | Leber congenital amaurosis 14 | -| GARD:10884 | Leber congenital amaurosis 15 | -| GARD:10885 | Leber congenital amaurosis 16 | -| GARD:15950 | Leber congenital amaurosis 17 | -| GARD:16359 | Leber congenital amaurosis 19 | -| GARD:636 | Leber congenital amaurosis 2 | -| GARD:9661 | Leber congenital amaurosis 3 | -| GARD:9662 | Leber congenital amaurosis 4 | -| GARD:9983 | Leber congenital amaurosis 5 | -| GARD:10490 | Leber congenital amaurosis 6 | -| GARD:10880 | Leber congenital amaurosis 7 | -| GARD:10881 | Leber congenital amaurosis 8 | -| GARD:9491 | Leber congenital amaurosis 9 | -| GARD:6870 | Leber hereditary optic neuropathy | -| GARD:15300 | Leber hereditary optic neuropathy, modifier of | -| GARD:15311 | Leber optic atrophy and dystonia | -| GARD:8476 | Leber plus disease | -| GARD:6873 | Ledderhose disease | -| GARD:22282 | Left sided atrial isomerism | -| GARD:10985 | Left ventricular noncompaction | -| GARD:15956 | Left ventricular noncompaction 10 | -| GARD:15460 | Left ventricular noncompaction 2 | -| GARD:15906 | Left ventricular noncompaction 7 | -| GARD:15952 | Left ventricular noncompaction 8 | -| GARD:6874 | Legg-Calvé-Perthes disease | -| GARD:22419 | Legionellosis | -| GARD:6876 | Legionnaires disease | -| GARD:10714 | Legius syndrome | -| GARD:6877 | Leigh syndrome | -| GARD:16685 | Leigh syndrome with cardiomyopathy | -| GARD:17238 | Leigh syndrome with leukodystrophy | -| GARD:17239 | Leigh syndrome with nephrotic syndrome | -| GARD:10097 | Leiomyoma of vulva and esophagus | -| GARD:6880 | Leiomyosarcoma | -| GARD:19852 | Leiomyosarcoma of small intestine | -| GARD:20495 | Leiomyosarcoma of the cervix uteri | -| GARD:20477 | Leiomyosarcoma of the corpus uteri | -| GARD:6881 | Leishmaniasis | -| GARD:10367 | Lelis syndrome | -| GARD:6882 | Lemierre syndrome | -| GARD:9912 | Lennox-Gastaut syndrome | -| GARD:19535 | Lens position anomaly | -| GARD:22172 | Lens position anomaly of genetic origin | -| GARD:19536 | Lens shape anomaly | -| GARD:19534 | Lens size anomaly | -| GARD:22171 | Lens size anomaly of genetic origin | -| GARD:3223 | Lenz-Majewski hyperostotic dwarfism | -| GARD:15518 | Leopard syndrome 2 | -| GARD:15694 | Leopard syndrome 3 | -| GARD:6885 | Leprechaunism | -| GARD:6886 | Leprosy | -| GARD:15415 | Leprosy, susceptibility to, 2 | -| GARD:15192 | Leprosy, susceptibility to, 3 | -| GARD:15504 | Leprosy, susceptibility to, 4 | -| GARD:15632 | Leprosy, susceptibility to, 5 | -| GARD:15659 | Leprosy, susceptibility to, 6 | -| GARD:20973 | Leptomyelolipoma | -| GARD:7881 | Leptospirosis | -| GARD:88 | Leri pleonosteosis | -| GARD:7226 | Lesch-Nyhan syndrome | -| GARD:18538 | Lessel-kreienkamp syndrome | -| GARD:3124 | Lethal Kniest-like dysplasia | -| GARD:3181 | Lethal Larsen-like syndrome | -| GARD:9910 | Lethal acantholytic erosive disorder | -| GARD:17432 | Lethal arteriopathy syndrome due to fibulin-4 deficiency | -| GARD:8756 | Lethal ataxia with deafness and optic atrophy | -| GARD:22332 | Lethal brain and heart developmental defects | -| GARD:19215 | Lethal chondrodysplasia | -| GARD:12643 | Lethal congenital contracture syndrome | -| GARD:12645 | Lethal congenital contracture syndrome 4 | -| GARD:18564 | Lethal congenital contracture syndrome 7 | -| GARD:18565 | Lethal congenital contracture syndrome 8 | -| GARD:3227 | Lethal congenital contracture syndrome type 1 | -| GARD:9177 | Lethal congenital contracture syndrome type 2 | -| GARD:12644 | Lethal congenital contracture syndrome type 3 | -| GARD:2229 | Lethal faciocardiomelic dysplasia | -| GARD:18654 | Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome | -| GARD:17743 | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | -| GARD:2642 | Lethal hemolytic anemia-genital anomalies syndrome | -| GARD:21978 | Lethal hydranencephaly-diaphragmatic hernia syndrome | -| GARD:17226 | Lethal infantile mitochondrial myopathy | -| GARD:3788 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | -| GARD:17865 | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | -| GARD:21925 | Lethal multiple congenital anomalies/dysmorphic syndrome | -| GARD:3834 | Lethal multiple pterygium syndrome | -| GARD:17718 | Lethal neonatal spasticity-epileptic encephalopathy syndrome | -| GARD:17348 | Lethal occipital encephalocele-skeletal dysplasia syndrome | -| GARD:4079 | Lethal omphalocele-cleft palate syndrome | -| GARD:282 | Lethal osteosclerotic bone dysplasia | -| GARD:17110 | Lethal polymalformative syndrome, Boissel type | -| GARD:18034 | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome | -| GARD:18036 | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation | -| GARD:18037 | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster | -| GARD:3399 | Lethal recessive chondrodysplasia | -| GARD:22199 | Letrozole toxicity | -| GARD:15467 | Leukemia, chronic lymphocytic, susceptibility to, 1 | -| GARD:15042 | Leukemia, chronic lymphocytic, susceptibility to, 2 | -| GARD:15565 | Leukemia, chronic lymphocytic, susceptibility to, 3 | -| GARD:15566 | Leukemia, chronic lymphocytic, susceptibility to, 4 | -| GARD:15567 | Leukemia, chronic lymphocytic, susceptibility to, 5 | -| GARD:16616 | Leukocyte adhesion deficiency | -| GARD:6893 | Leukocyte adhesion deficiency type I | -| GARD:4634 | Leukocyte adhesion deficiency type II | -| GARD:16915 | Leukocyte adhesion deficiency type III | -| GARD:6895 | Leukodystrophy | -| GARD:18088 | Leukodystrophy, hypomyelinating, 11 | -| GARD:16266 | Leukodystrophy, hypomyelinating, 14 | -| GARD:15557 | Leukodystrophy, hypomyelinating, 6 | -| GARD:18087 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | -| GARD:18624 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | -| GARD:19917 | Leukoencephalopathy with bilateral anterior temporal lobe cysts | -| GARD:12652 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | -| GARD:10732 | Leukoencephalopathy with calcifications and cysts | -| GARD:17565 | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | -| GARD:18252 | Leukoencephalopathy, progressive, with ovarian failure | -| GARD:12471 | Leukoencephalopathy-dystonia-motor neuropathy syndrome | -| GARD:3232 | Leukoencephalopathy-palmoplantar keratoderma syndrome | -| GARD:4891 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | -| GARD:12893 | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | -| GARD:2044 | Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome | -| GARD:9759 | Leukonychia totalis | -| GARD:20448 | Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome | -| GARD:12032 | Levocardia | -| GARD:13070 | Lewis-Sumner syndrome | -| GARD:3244 | Leydig cell hypoplasia | -| GARD:10127 | Leydig cell hypoplasia due to LHB deficiency | -| GARD:16851 | Leydig cell hypoplasia due to complete LH resistance | -| GARD:16852 | Leydig cell hypoplasia due to partial LH resistance | -| GARD:6901 | Lhermitte-Duclos disease | -| GARD:6902 | Li-Fraumeni syndrome | -| GARD:16263 | Li-fraumeni syndrome 2 | -| GARD:18526 | Li-ghorbani-weisz-hubshman syndrome | -| GARD:18839 | Lichen amyloidosis | -| GARD:21709 | Lichen myxedematosus | -| GARD:3247 | Lichen planopilaris | -| GARD:12677 | Lichen planus pemphigoides | -| GARD:10816 | Lichen planus pigmentosus | -| GARD:3248 | Lichtenstein syndrome | -| GARD:7381 | Liddle syndrome | -| GARD:19223 | Light and heavy chain deposition disease | -| GARD:6906 | Light chain deposition disease | -| GARD:3251 | Limb body wall complex | -| GARD:6907 | Limb-girdle muscular dystrophy | -| GARD:17769 | Limb-girdle muscular dystrophy due to POMK deficiency | -| GARD:10051 | Limb-mammary syndrome | -| GARD:20123 | Limbal stem cell deficiency | -| GARD:1053 | Limited cutaneous systemic sclerosis | -| GARD:9749 | Limited systemic sclerosis | -| GARD:18834 | Linear IgA dermatosis | -| GARD:11004 | Linear and whorled nevoid hypermelanosis | -| GARD:19932 | Linear atrophoderma of Moulin | -| GARD:20579 | Linear focal elastosis | -| GARD:22358 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | -| GARD:11898 | Linear lichen planus | -| GARD:10291 | Linear nevus sebaceus syndrome | -| GARD:15272 | Linear skin defects with multiple congenital anomalies 2 | -| GARD:15276 | Linear skin defects with multiple congenital anomalies 3 | -| GARD:3259 | Linear verrucous nevus syndrome | -| GARD:12511 | Lipid storage disease | -| GARD:12015 | Lipoblastoma | -| GARD:12604 | Lipodystrophy due to peptidic growth factors deficiency | -| GARD:84 | Lipodystrophy, congenital generalized, type 1 | -| GARD:10212 | Lipodystrophy, congenital generalized, type 2 | -| GARD:13389 | Lipodystrophy, congenital generalized, type 3 | -| GARD:10937 | Lipodystrophy, congenital generalized, type 4 | -| GARD:18038 | Lipodystrophy, familial partial, type 7 | -| GARD:16646 | Lipodystrophy-intellectual disability-deafness syndrome | -| GARD:12679 | Lipoic acid biosynthesis defect | -| GARD:12678 | Lipoic acid synthetase deficiency | -| GARD:3268 | Lipoid proteinosis | -| GARD:20972 | Lipoma associated with neurospinal dysraphism | -| GARD:10053 | Lipomyelomeningocele | -| GARD:17504 | Lipoprotein glomerulopathy | -| GARD:6913 | Liposarcoma | -| GARD:12680 | Lipoyl transferase 1 deficiency | -| GARD:21872 | Lipoyl transferase 2 deficiency | -| GARD:16877 | Lisch epithelial corneal dystrophy | -| GARD:12291 | Lissencephaly | -| GARD:16838 | Lissencephaly due to LIS1 mutation | -| GARD:17066 | Lissencephaly due to TUBA1A mutation | -| GARD:16780 | Lissencephaly syndrome, Norman-Roberts type | -| GARD:6914 | Lissencephaly type 1 due to doublecortin gene mutation | -| GARD:19821 | Lissencephaly type 3 | -| GARD:19067 | Lissencephaly type 3-familial fetal akinesia sequence syndrome | -| GARD:16763 | Lissencephaly type 3-metacarpal bone dysplasia syndrome | -| GARD:19068 | Lissencephaly with cerebellar hypoplasia | -| GARD:19731 | Lissencephaly with cerebellar hypoplasia type A | -| GARD:19732 | Lissencephaly with cerebellar hypoplasia type B | -| GARD:19733 | Lissencephaly with cerebellar hypoplasia type C | -| GARD:19734 | Lissencephaly with cerebellar hypoplasia type D | -| GARD:19735 | Lissencephaly with cerebellar hypoplasia type E | -| GARD:19736 | Lissencephaly with cerebellar hypoplasia type F | -| GARD:6915 | Listeriosis | -| GARD:12784 | Livedoid vasculopathy | -| GARD:22278 | Liver adenomatosis | -| GARD:16830 | Lobar holoprosencephaly | -| GARD:22388 | Localized dystrophic epidermolysis bullosa | -| GARD:20031 | Localized dystrophic epidermolysis bullosa, acral form | -| GARD:20032 | Localized dystrophic epidermolysis bullosa, nails only | -| GARD:2155 | Localized dystrophic epidermolysis bullosa, pretibial form | -| GARD:2146 | Localized epidermolysis bullosa simplex | -| GARD:12923 | Localized junctional epidermolysis bullosa | -| GARD:7321 | Localized lichen myxedematosus | -| GARD:19142 | Localized lichen myxedematosus with mixed features of different subtypes | -| GARD:19143 | Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms | -| GARD:5867 | Localized lipodystrophy | -| GARD:20155 | Localized pagetoid reticulosis | -| GARD:7058 | Localized scleroderma | -| GARD:6919 | Locked-in syndrome | -| GARD:18929 | Loeffler endocarditis | -| GARD:10788 | Loeys-Dietz syndrome | -| GARD:9458 | Loeys-dietz syndrome 1 | -| GARD:10586 | Loeys-dietz syndrome 2 | -| GARD:10588 | Loeys-dietz syndrome 4 | -| GARD:12356 | Loeys-dietz syndrome 5 | -| GARD:10791 | Logopenic progressive aphasia | -| GARD:3283 | Loiasis | -| GARD:6867 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | -| GARD:10436 | Long qt syndrome 10 | -| GARD:10437 | Long qt syndrome 11 | -| GARD:15595 | Long qt syndrome 12 | -| GARD:15666 | Long qt syndrome 13 | -| GARD:16073 | Long qt syndrome 14 | -| GARD:16074 | Long qt syndrome 15 | -| GARD:3285 | Long qt syndrome 2 | -| GARD:3286 | Long qt syndrome 3 | -| GARD:10433 | Long qt syndrome 5 | -| GARD:10434 | Long qt syndrome 6 | -| GARD:10435 | Long qt syndrome 9 | -| GARD:22024 | Longitudinal limb defect | -| GARD:20190 | Longitudinal vaginal septum | -| GARD:3287 | Loose anagen syndrome | -| GARD:16683 | Low phospholipid-associated cholelithiasis | -| GARD:19933 | Low-flow priapism | -| GARD:20706 | Low-grade astrocytoma | -| GARD:20483 | Low-grade neuroendocrine tumor of the corpus uteri | -| GARD:1695 | Lowe-Kohn-Cohen syndrome | -| GARD:21213 | Lower limb hypertrophy | -| GARD:18773 | Lower limb malformation-hypospadias syndrome | -| GARD:19940 | Lower lip fistula | -| GARD:17282 | Lower motor neuron syndrome with late-adult onset | -| GARD:16550 | Lown-Ganong-Levine syndrome | -| GARD:3300 | Lowry-MacLean syndrome | -| GARD:264 | Lowry-Wood syndrome | -| GARD:3307 | Lujan-Fryns syndrome | -| GARD:21410 | Lujo hemorrhagic fever | -| GARD:20954 | Lumbosacral spina bifida aperta | -| GARD:20961 | Lumbosacral spina bifida cystica | -| GARD:3378 | Lung agenesis-heart defect-thumb anomalies syndrome | -| GARD:16947 | Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome | -| GARD:19133 | Lupus erythematosus panniculitis | -| GARD:13003 | Lupus erythematosus tumidus | -| GARD:13789 | Luscan-Lumish syndrome | -| GARD:19170 | Lyme disease | -| GARD:3319 | Lymphangioleiomyomatosis | -| GARD:3321 | Lymphatic filariasis | -| GARD:3328 | Lymphatic malformation 1 | -| GARD:16453 | Lymphatic malformation 2 | -| GARD:16456 | Lymphatic malformation 3 | -| GARD:16468 | Lymphatic malformation 4 | -| GARD:284 | Lymphedema-atrial septal defects-facial changes syndrome | -| GARD:9217 | Lymphedema-cerebral arteriovenous anomaly syndrome | -| GARD:333 | Lymphedema-distichiasis syndrome | -| GARD:16898 | Lymphedema-posterior choanal atresia syndrome | -| GARD:21397 | Lymphocytic hypereosinophilic syndrome | -| GARD:21151 | Lymphoepithelial-like carcinoma | -| GARD:20131 | Lymphoid hemopathy | -| GARD:16700 | Lymphoid interstitial pneumonia | -| GARD:15194 | Lymphokine deficiency | -| GARD:20548 | Lymphoma | -| GARD:6943 | Lymphomatoid granulomatosis | -| GARD:6944 | Lymphomatoid papulosis | -| GARD:22240 | Lymphoplasmacytic inflammatory pseudotumor of the liver | -| GARD:21851 | Lymphoplasmacytic lymphoma without IgM production | -| GARD:16855 | Lymphoproliferative disease associated with primary immune disease | -| GARD:20633 | Lymphoproliferative syndrome | -| GARD:9905 | Lynch syndrome | -| GARD:15052 | Lynch syndrome i | -| GARD:3335 | Lysinuric protein intolerance | -| GARD:12097 | Lysosomal acid lipase deficiency | -| GARD:16636 | Lysosomal acid phosphatase deficiency | -| GARD:18884 | Lysosomal disease | -| GARD:20550 | Lysosomal disease with epilepsy | -| GARD:20520 | Lysosomal disease with hypertrophic cardiomyopathy | -| GARD:20533 | Lysosomal disease with restrictive cardiomyopathy | -| GARD:21333 | Lysosomal glycogen storage disease | -| GARD:19203 | Lysosomal storage disease with skeletal involvement | -| GARD:3224 | Léri-Weill dyschondrosteosis | -| GARD:13316 | MAGEL2-related Prader-Willi-like syndrome | -| GARD:13371 | MAGIC syndrome | -| GARD:6485 | MALT lymphoma | -| GARD:12417 | MAN1B1-CDG | -| GARD:6986 | MASA syndrome | -| GARD:17072 | MEDNIK syndrome | -| GARD:12963 | MEGDEL syndrome | -| GARD:9178 | MEHMO syndrome | -| GARD:7009 | MELAS | -| GARD:17666 | MEND syndrome | -| GARD:13488 | MEPAN syndrome | -| GARD:7144 | MERRF | -| GARD:17881 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | -| GARD:9828 | MGAT2-CDG | -| GARD:22495 | MIR140-related spondyloepiphyseal dysplasia | -| GARD:13108 | MIRAGE syndrome | -| GARD:17343 | MITF-related melanoma and renal cell carcinoma predisposition syndrome | -| GARD:17916 | MME-related autosomal dominant Charcot Marie Tooth disease type 2 | -| GARD:3693 | MMEP syndrome | -| GARD:3697 | MODY | -| GARD:10767 | MOGS-CDG | -| GARD:178 | MOMO syndrome | -| GARD:10121 | MORM syndrome | -| GARD:9832 | MPDU1-CDG | -| GARD:9830 | MPI-CDG | -| GARD:17255 | MRCS syndrome | -| GARD:17868 | MSH3-related attenuated familial adenomatous polyposis | -| GARD:21433 | MT-ATP6-related mitochondrial spastic paraplegia | -| GARD:18018 | MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome | -| GARD:7002 | MUC1-related autosomal dominant tubulointerstitial kidney disease | -| GARD:10805 | MUTYH-related attenuated familial adenomatous polyposis | -| GARD:22035 | MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome | -| GARD:10313 | MYH7-related late-onset scapuloperoneal muscular dystrophy | -| GARD:180 | MYH9-related disease | -| GARD:21972 | MYO5B-related progressive familial intrahepatic cholestasis | -| GARD:21048 | Machado-Joseph disease type 1 | -| GARD:21049 | Machado-Joseph disease type 2 | -| GARD:21050 | Machado-Joseph disease type 3 | -| GARD:17630 | Macrocephaly-developmental delay syndrome | -| GARD:17112 | Macrocephaly-intellectual disability-autism syndrome | -| GARD:17832 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | -| GARD:13636 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | -| GARD:172 | Macrocephaly-short stature-paraplegia syndrome | -| GARD:16598 | Macrocephaly-spastic paraplegia-dysmorphism syndrome | -| GARD:6010 | Macrocystic lymphatic malformation | -| GARD:8529 | Macrodactyly of fingers | -| GARD:21228 | Macrodactyly of fingers, bilateral | -| GARD:21227 | Macrodactyly of fingers, unilateral | -| GARD:6951 | Macrodactyly of toes | -| GARD:21230 | Macrodactyly of toes, bilateral | -| GARD:21229 | Macrodactyly of toes, unilateral | -| GARD:15486 | Macroglobulinemia, waldenstrom, susceptibility to, 2 | -| GARD:3342 | Macroglossia | -| GARD:12124 | Macrophage activation syndrome | -| GARD:19442 | Macrophage or histiocytic tumor | -| GARD:176 | Macrophagic myofasciitis | -| GARD:177 | Macrosomia-microphthalmia-cleft palate syndrome | -| GARD:19044 | Macrostomia-preauricular tags-external ophthalmoplegia syndrome | -| GARD:20538 | Macrothrombocytopenia with mitral valve insufficiency | -| GARD:18271 | Macrothrombocytopenia, isolated, 1, autosomal dominant | -| GARD:17884 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | -| GARD:19885 | Macular amyloidosis | -| GARD:16802 | Macular coloboma-cleft palate-hallux valgus syndrome | -| GARD:6953 | Macular corneal dystrophy | -| GARD:15268 | Macular degeneration, x-linked atrophic | -| GARD:18237 | Macular dystrophy, patterned, 1 | -| GARD:18238 | Macular dystrophy, patterned, 2 | -| GARD:10120 | Macular dystrophy, vitelliform, 1 | -| GARD:16064 | Macular dystrophy, vitelliform, 4 | -| GARD:16065 | Macular dystrophy, vitelliform, 5 | -| GARD:16723 | Maculopapular cutaneous mastocytosis | -| GARD:19887 | Madras motor neuron disease | -| GARD:6958 | Maffucci syndrome | -| GARD:10088 | Majeed syndrome | -| GARD:92 | Mal de Meleda | -| GARD:6959 | Mal de débarquement | -| GARD:6960 | Malakoplakia | -| GARD:13811 | Malan overgrowth syndrome | -| GARD:6961 | Malaria | -| GARD:4899 | Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome | -| GARD:17971 | Male infertility due to acephalic spermatozoa | -| GARD:12502 | Male infertility due to globozoospermia | -| GARD:19445 | Male infertility due to gonadal dysgenesis | -| GARD:21673 | Male infertility due to gonadal dysgenesis or sperm disorder | -| GARD:12385 | Male infertility due to large-headed multiflagellar polyploid spermatozoa | -| GARD:19446 | Male infertility due to obstructive azoospermia | -| GARD:21688 | Male infertility due to obstructive azoospermia of genetic origin | -| GARD:21674 | Male infertility due to sperm disorder | -| GARD:21676 | Male infertility due to sperm motility disorder | -| GARD:8530 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | -| GARD:21675 | Male infertility with spermatogenesis disorder | -| GARD:12513 | Male infertility with spermatogenesis disorder due to single gene mutation | -| GARD:17654 | Male infertility with teratozoospermia due to single gene mutation | -| GARD:19481 | Malformation of the cerebellar hemispheres | -| GARD:19480 | Malformation of the cerebellar vermis | -| GARD:20974 | Malformation of the neurenteric canal, spinal cord and column | -| GARD:19431 | Malformation syndrome with hamartosis | -| GARD:19909 | Malformation syndrome with odontal and/or periodontal component | -| GARD:19902 | Malformation syndrome with short stature | -| GARD:20209 | Malformative syndrome with dentinogenesis imperfecta | -| GARD:19707 | Maligant granulosa cell tumor of the ovary | -| GARD:21138 | Malignancy diagnosed during pregnancy | -| GARD:5495 | Malignant Sertoli-Leydig cell tumor of the ovary | -| GARD:6249 | Malignant atrophic papulosis | -| GARD:19705 | Malignant dysgerminomatous germ cell tumor of the ovary | -| GARD:9362 | Malignant epithelial tumor of ovary | -| GARD:21043 | Malignant epithelial tumor of salivary glands | -| GARD:9330 | Malignant germ cell tumor of ovary | -| GARD:20501 | Malignant germ cell tumor of the cervix uteri | -| GARD:20485 | Malignant germ cell tumor of the corpus uteri | -| GARD:20347 | Malignant germ cell tumor of the vagina | -| GARD:6964 | Malignant hyperthermia of anesthesia | -| GARD:3363 | Malignant hyperthermia, susceptibility to, 1 | -| GARD:3364 | Malignant hyperthermia, susceptibility to, 2 | -| GARD:3365 | Malignant hyperthermia, susceptibility to, 3 | -| GARD:3366 | Malignant hyperthermia, susceptibility to, 4 | -| GARD:3367 | Malignant hyperthermia, susceptibility to, 5 | -| GARD:3368 | Malignant hyperthermia, susceptibility to, 6 | -| GARD:20387 | Malignant lymphoma with peripheral neuropathy | -| GARD:20110 | Malignant melanoma of the mucosa | -| GARD:12919 | Malignant migrating focal seizures of infancy | -| GARD:7296 | Malignant mixed Müllerian tumor of the ovary | -| GARD:20490 | Malignant mixed epithelial and mesenchymal tumor of cervix uteri | -| GARD:20472 | Malignant mixed epithelial and mesenchymal tumor of corpus uteri | -| GARD:20349 | Malignant non-dysgerminomatous germ cell tumor of ovary | -| GARD:21650 | Malignant non-epithelial tumor of ovary | -| GARD:10872 | Malignant peripheral nerve sheath tumor | -| GARD:20741 | Malignant peripheral nerve sheath tumor with perineurial differentiation | -| GARD:20102 | Malignant peritoneal mesothelioma | -| GARD:18816 | Malignant sex cord stromal tumor of ovary | -| GARD:21654 | Malignant teratoma of ovary | -| GARD:20743 | Malignant triton tumor | -| GARD:20204 | Malignant tumor of fallopian tubes | -| GARD:9366 | Malignant tumor of penis | -| GARD:3371 | Malonic aciduria | -| GARD:19645 | Malposition of a coronary ostium | -| GARD:17180 | Mammary-digital-nail syndrome | -| GARD:19957 | Mandibular arteriovenous malformation | -| GARD:10989 | Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome | -| GARD:11893 | Mandibuloacral dysplasia | -| GARD:3374 | Mandibuloacral dysplasia with type A lipodystrophy | -| GARD:9989 | Mandibuloacral dysplasia with type B lipodystrophy | -| GARD:19980 | Mandibulofacial dysostosis | -| GARD:17758 | Mandibulofacial dysostosis with alopecia | -| GARD:17547 | Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome | -| GARD:10056 | Mandibulofacial dysostosis-microcephaly syndrome | -| GARD:21264 | Manganese poisoning | -| GARD:8216 | Mansonelliasis | -| GARD:6969 | Mantle cell lymphoma | -| GARD:3228 | Maple syrup urine disease | -| GARD:18388 | Maple syrup urine disease, mild variant | -| GARD:20572 | Marburg acute multiple sclerosis | -| GARD:9444 | Marburg hemorrhagic fever | -| GARD:6971 | Marchiafava-Bignami disease | -| GARD:6972 | Marcus-Gunn syndrome | -| GARD:6973 | Marden-Walker syndrome | -| GARD:16535 | Marfan syndrome | -| GARD:21129 | Marfan syndrome and Marfan-related disorders | -| GARD:6975 | Marfan syndrome type 1 | -| GARD:17318 | Marfan syndrome type 2 | -| GARD:3388 | Marfanoid habitus-autosomal recessive intellectual disability syndrome | -| GARD:21368 | Marfanoid habitus-inguinal hernia-advanced bone age syndrome | -| GARD:3401 | Marfanoid syndrome, De Silva type | -| GARD:21298 | Marginal papular palmoplantar keratoderma | -| GARD:13237 | Marginal zone lymphoma | -| GARD:3390 | Marie Unna hereditary hypotrichosis | -| GARD:19779 | Marin-Amat syndrome | -| GARD:8341 | Marinesco-Sjögren syndrome | -| GARD:6984 | Marshall syndrome | -| GARD:6985 | Marshall-Smith syndrome | -| GARD:17826 | Martinique crinkled retinal pigment epitheliopathy | -| GARD:19598 | Mast cell leukemia | -| GARD:18870 | Mast cell sarcoma | -| GARD:6987 | Mastocytosis | -| GARD:20702 | Maternal disease-related embryofetopathy | -| GARD:2856 | Maternal hyperthermia-induced birth defects | -| GARD:3413 | Maternal phenylketonuria | -| GARD:17686 | Maternal riboflavin deficiency | -| GARD:19424 | Maternal uniparental disomy | -| GARD:20689 | Maternal uniparental disomy of chromosome 1 | -| GARD:19382 | Maternal uniparental disomy of chromosome 13 | -| GARD:19336 | Maternal uniparental disomy of chromosome 16 | -| GARD:19331 | Maternal uniparental disomy of chromosome 2 | -| GARD:16849 | Maternal uniparental disomy of chromosome 20 | -| GARD:19337 | Maternal uniparental disomy of chromosome 21 | -| GARD:19338 | Maternal uniparental disomy of chromosome 22 | -| GARD:19332 | Maternal uniparental disomy of chromosome 4 | -| GARD:19333 | Maternal uniparental disomy of chromosome 6 | -| GARD:19335 | Maternal uniparental disomy of chromosome 9 | -| GARD:20783 | Maternal uniparental disomy of chromosome X | -| GARD:4003 | Maternally-inherited diabetes and deafness | -| GARD:713 | Matthew-Wood syndrome | -| GARD:15392 | Maturity-onset diabetes of the young | -| GARD:3418 | Maturity-onset diabetes of the young, type 1 | -| GARD:15652 | Maturity-onset diabetes of the young, type 10 | -| GARD:15653 | Maturity-onset diabetes of the young, type 11 | -| GARD:16090 | Maturity-onset diabetes of the young, type 13 | -| GARD:16128 | Maturity-onset diabetes of the young, type 14 | -| GARD:10657 | Maturity-onset diabetes of the young, type 2 | -| GARD:10658 | Maturity-onset diabetes of the young, type 3 | -| GARD:10659 | Maturity-onset diabetes of the young, type 4 | -| GARD:10660 | Maturity-onset diabetes of the young, type 6 | -| GARD:10661 | Maturity-onset diabetes of the young, type 7 | -| GARD:10662 | Maturity-onset diabetes of the young, type 8, with exocrine dysfunction | -| GARD:10663 | Maturity-onset diabetes of the young, type 9 | -| GARD:19956 | Maxillary arteriovenous malformation | -| GARD:6992 | Maxillonasal dysplasia | -| GARD:5445 | Mayer-Rokitansky-Küster-Hauser syndrome | -| GARD:4737 | Mayer-Rokitansky-Küster-Hauser syndrome type 1 | -| GARD:5513 | Mayer-Rokitansky-Küster-Hauser syndrome type 2 | -| GARD:18853 | Mazabraud syndrome | -| GARD:6995 | McCune-Albright syndrome | -| GARD:3424 | McDonough syndrome | -| GARD:3427 | McKusick-Kaufman syndrome | -| GARD:10731 | McLeod neuroacanthocytosis syndrome | -| GARD:3432 | Meacham syndrome | -| GARD:3436 | Meckel syndrome | -| GARD:16236 | Meckel syndrome 13 | -| GARD:15957 | Meckel syndrome, type 11 | -| GARD:8743 | Meckel syndrome, type 2 | -| GARD:8744 | Meckel syndrome, type 3 | -| GARD:15509 | Meckel syndrome, type 4 | -| GARD:15520 | Meckel syndrome, type 5 | -| GARD:15548 | Meckel syndrome, type 6 | -| GARD:15727 | Meckel syndrome, type 8 | -| GARD:15773 | Meckel syndrome, type 9 | -| GARD:10494 | Meconium aspiration syndrome | -| GARD:10910 | Medial condensing osteitis of the clavicle | -| GARD:18756 | Median cleft lip/mandibule | -| GARD:19966 | Median cleft of the upper lip and maxilla | -| GARD:19965 | Median facial cleft | -| GARD:3440 | Median nodule of the upper lip | -| GARD:21598 | Medich giant platelet syndrome | -| GARD:540 | Medium chain acyl-CoA dehydrogenase deficiency | -| GARD:19815 | Medullar disease | -| GARD:232 | Medullary sponge kidney | -| GARD:7004 | Medullary thyroid carcinoma | -| GARD:7005 | Medulloblastoma | -| GARD:17214 | Medulloblastoma with extensive nodularity | -| GARD:20721 | Medulloepithelioma of the central nervous system | -| GARD:9688 | Meesmann corneal dystrophy | -| GARD:19355 | Mega-cisterna magna | -| GARD:10317 | Megaconial congenital muscular dystrophy | -| GARD:20638 | Megacystis-megaureter syndrome | -| GARD:3442 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | -| GARD:15195 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | -| GARD:16447 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | -| GARD:21712 | Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) | -| GARD:3445 | Megalencephalic leukoencephalopathy with subcortical cysts | -| GARD:15728 | Megalencephalic leukoencephalopathy with subcortical cysts 2a | -| GARD:15729 | Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation | -| GARD:16601 | Megalencephaly | -| GARD:6950 | Megalencephaly-capillary malformation-polymicrogyria syndrome | -| GARD:18077 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | -| GARD:18078 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | -| GARD:18079 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | -| GARD:10341 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | -| GARD:17805 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | -| GARD:3448 | Megalocornea-intellectual disability syndrome | -| GARD:15162 | Meier-gorlin syndrome 1 | -| GARD:15708 | Meier-gorlin syndrome 2 | -| GARD:15710 | Meier-gorlin syndrome 3 | -| GARD:15711 | Meier-gorlin syndrome 4 | -| GARD:15712 | Meier-gorlin syndrome 5 | -| GARD:16163 | Meier-gorlin syndrome 6 | -| GARD:16181 | Meier-gorlin syndrome 7 | -| GARD:3324 | Meige disease | -| GARD:21372 | Meigs syndrome | -| GARD:8468 | Melanoma and neural system tumor syndrome | -| GARD:19367 | Melanoma of soft tissue | -| GARD:18472 | Melanoma, cutaneous malignant, susceptibility to, 1 | -| GARD:18582 | Melanoma, cutaneous malignant, susceptibility to, 10 | -| GARD:18575 | Melanoma, cutaneous malignant, susceptibility to, 2 | -| GARD:18578 | Melanoma, cutaneous malignant, susceptibility to, 3 | -| GARD:18577 | Melanoma, cutaneous malignant, susceptibility to, 4 | -| GARD:18579 | Melanoma, cutaneous malignant, susceptibility to, 5 | -| GARD:18580 | Melanoma, cutaneous malignant, susceptibility to, 6 | -| GARD:18581 | Melanoma, cutaneous malignant, susceptibility to, 9 | -| GARD:18576 | Melanoma, malignant familial intraocular | -| GARD:15394 | Melanoma, uveal, susceptibility to, 1 | -| GARD:15395 | Melanoma, uveal, susceptibility to, 2 | -| GARD:18473 | Melanoma-pancreatic cancer syndrome | -| GARD:3462 | Melhem-Fahl syndrome | -| GARD:9546 | Melioidosis | -| GARD:15986 | Melioidosis, susceptibility to | -| GARD:7010 | Melkersson-Rosenthal syndrome | -| GARD:7011 | Melnick-Needles syndrome | -| GARD:9474 | Melorheostosis | -| GARD:3690 | Melorheostosis with osteopoikilosis | -| GARD:12977 | Mendelian susceptibility to mycobacterial diseases | -| GARD:9185 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency | -| GARD:17457 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency | -| GARD:12976 | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | -| GARD:10984 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | -| GARD:17458 | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | -| GARD:17463 | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | -| GARD:17462 | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | -| GARD:20740 | Meningeal melanocytoma | -| GARD:7015 | Meningioma | -| GARD:18385 | Meningioma, familial, susceptibility to | -| GARD:8491 | Meningioma, radiation-induced | -| GARD:18809 | Meningococcal meningitis | -| GARD:22371 | Menke-Hennekam syndrome | -| GARD:1521 | Menkes disease | -| GARD:22017 | Menstrual cycle-dependent periodic fever | -| GARD:22681 | Mental retardation, x-linked 82 | -| GARD:22692 | Mental retardation, x-linked 88 | -| GARD:22688 | Mental retardation, x-linked 89 | -| GARD:22691 | Mental retardation, x-linked 92 | -| GARD:7021 | Mercury poisoning | -| GARD:21761 | Mesenchymal tumor of small intestine | -| GARD:19684 | Mesial temporal lobe epilepsy with hippocampal sclerosis | -| GARD:10590 | Mesoaxial synostotic syndactyly with phalangeal reduction | -| GARD:19259 | Mesocardia | -| GARD:4302 | Mesomelia-synostoses syndrome | -| GARD:19195 | Mesomelic and rhizo-mesomelic dysplasia | -| GARD:3555 | Mesomelic dwarfism, Reinhardt-Pfeiffer type | -| GARD:3552 | Mesomelic dwarfism-cleft palate-camptodactyly syndrome | -| GARD:3074 | Mesomelic dysplasia, Kantaputra type | -| GARD:3554 | Mesomelic dysplasia, Nievergelt type | -| GARD:10584 | Mesomelic dysplasia, Savarirayan type | -| GARD:21321 | Metabolic disease due to other fatty acid oxidation disorder | -| GARD:18979 | Metabolic disease involving other neurotransmitter deficiency | -| GARD:19529 | Metabolic disease with cataract | -| GARD:19490 | Metabolic disease with dementia | -| GARD:19850 | Metabolic disease with intestinal involvement | -| GARD:19015 | Metabolic disease with skin involvement | -| GARD:20089 | Metabolic diseases with epilepsy | -| GARD:19472 | Metabolic myopathy | -| GARD:17067 | Metabolic myopathy due to lactate transporter defect | -| GARD:20557 | Metabolic neurotransmission anomaly with epilepsy | -| GARD:3560 | Metachondromatosis | -| GARD:3230 | Metachromatic leukodystrophy | -| GARD:21330 | Metachromatic leukodystrophy, adult form | -| GARD:21329 | Metachromatic leukodystrophy, juvenile form | -| GARD:21328 | Metachromatic leukodystrophy, late infantile form | -| GARD:20553 | Metal transport or utilization disorder with epilepsy | -| GARD:3519 | Metaphyseal acroscyphodysplasia | -| GARD:3562 | Metaphyseal anadysplasia | -| GARD:15610 | Metaphyseal anadysplasia 2 | -| GARD:79 | Metaphyseal chondrodysplasia, Jansen type | -| GARD:17018 | Metaphyseal chondrodysplasia, Kaitila type | -| GARD:7029 | Metaphyseal chondrodysplasia, Schmid type | -| GARD:3563 | Metaphyseal chondrodysplasia, Spahr type | -| GARD:16902 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | -| GARD:3566 | Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome | -| GARD:16738 | Metaphyseal dysplasia, Braun-Tinschert type | -| GARD:3568 | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | -| GARD:10804 | Metaplastic carcinoma of the breast | -| GARD:3571 | Metatropic dysplasia | -| GARD:18804 | Methanol poisoning | -| GARD:3909 | Methemoglobin reductase deficiency | -| GARD:15196 | Methemoglobinemia and ambiguous genitalia | -| GARD:15197 | Methemoglobinemia due to deficiency of methemoglobin reductase | -| GARD:16277 | Methemoglobinemia, alpha type | -| GARD:16276 | Methemoglobinemia, beta type | -| GARD:3573 | Methimazole embryofetopathy | -| GARD:22269 | Methotrexate toxicity | -| GARD:19083 | Methotrexate-associated lymphoproliferative disorders | -| GARD:17385 | Methylcobalamin deficiency type cblDv1 | -| GARD:3576 | Methylcobalamin deficiency type cblE | -| GARD:3577 | Methylcobalamin deficiency type cblG | -| GARD:17390 | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | -| GARD:3579 | Methylmalonic acidemia with homocystinuria | -| GARD:3584 | Methylmalonic acidemia with homocystinuria type cblF | -| GARD:12128 | Methylmalonic acidemia with homocystinuria, type cblC | -| GARD:3582 | Methylmalonic acidemia with homocystinuria, type cblD | -| GARD:12621 | Methylmalonic acidemia with homocystinuria, type cblJ | -| GARD:13137 | Methylmalonic acidemia with homocystinuria, type cblX | -| GARD:13163 | Methylmalonic acidemia without homocystinuria | -| GARD:16481 | Methylmalonic aciduria due to transcobalamin receptor defect | -| GARD:22047 | Metopic ridging-ptosis-facial dysmorphism syndrome | -| GARD:21315 | Mevalonate kinase deficiency | -| GARD:3588 | Mevalonic aciduria | -| GARD:17446 | MiT family translocation renal cell carcinoma | -| GARD:5534 | Micro syndrome | -| GARD:19497 | Microblepharon-ablephara syndrome | -| GARD:3596 | Microbrachycephaly-ptosis-cleft lip syndrome | -| GARD:17841 | Microcephalic cortical malformations-short stature due to RTTN deficiency | -| GARD:16736 | Microcephalic osteodysplastic dysplasia, Saul-Wilson type | -| GARD:9844 | Microcephalic osteodysplastic primordial dwarfism type II | -| GARD:5120 | Microcephalic osteodysplastic primordial dwarfism types I and III | -| GARD:15144 | Microcephalic osteodysplastic primordial dwarfism, type i | -| GARD:15145 | Microcephalic osteodysplastic primordial dwarfism, type iii | -| GARD:21450 | Microcephalic primordial dwarfism | -| GARD:17498 | Microcephalic primordial dwarfism due to ZNF335 deficiency | -| GARD:17469 | Microcephalic primordial dwarfism, Dauber type | -| GARD:895 | Microcephalic primordial dwarfism, Montreal type | -| GARD:3602 | Microcephalic primordial dwarfism, Toriello type | -| GARD:17728 | Microcephalic primordial dwarfism-insulin resistance syndrome | -| GARD:15198 | Microcephaly 1, primary, autosomal recessive | -| GARD:16057 | Microcephaly 12, primary, autosomal recessive | -| GARD:16054 | Microcephaly 13, primary, autosomal recessive | -| GARD:16105 | Microcephaly 14, primary, autosomal recessive | -| GARD:16151 | Microcephaly 16, primary, autosomal recessive | -| GARD:16186 | Microcephaly 17, primary, autosomal recessive | -| GARD:16233 | Microcephaly 18, primary, autosomal dominant | -| GARD:16253 | Microcephaly 19, primary, autosomal recessive | -| GARD:15366 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | -| GARD:16268 | Microcephaly 20, primary, autosomal recessive | -| GARD:16278 | Microcephaly 21, primary, autosomal recessive | -| GARD:16279 | Microcephaly 22, primary, autosomal recessive | -| GARD:16280 | Microcephaly 23, primary, autosomal recessive | -| GARD:16302 | Microcephaly 24, primary, autosomal recessive | -| GARD:16346 | Microcephaly 25, primary, autosomal recessive | -| GARD:16432 | Microcephaly 26, primary, autosomal dominant | -| GARD:16433 | Microcephaly 27, primary, autosomal dominant | -| GARD:15373 | Microcephaly 3, primary, autosomal recessive | -| GARD:15367 | Microcephaly 4, primary, autosomal recessive | -| GARD:15441 | Microcephaly 5, primary, autosomal recessive | -| GARD:15431 | Microcephaly 6, primary, autosomal recessive | -| GARD:15580 | Microcephaly 7, primary, autosomal recessive | -| GARD:15833 | Microcephaly 8, primary, autosomal recessive | -| GARD:15855 | Microcephaly 9, primary, autosomal recessive | -| GARD:18481 | Microcephaly and chorioretinopathy, autosomal recessive, 1 | -| GARD:18482 | Microcephaly and chorioretinopathy, autosomal recessive, 3 | -| GARD:15360 | Microcephaly with simplified gyral pattern | -| GARD:18438 | Microcephaly, epilepsy, and diabetes syndrome 1 | -| GARD:18439 | Microcephaly, epilepsy, and diabetes syndrome 2 | -| GARD:18507 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | -| GARD:10933 | Microcephaly, seizures, and developmental delay | -| GARD:18459 | Microcephaly, short stature, and impaired glucose metabolism 1 | -| GARD:18460 | Microcephaly, short stature, and impaired glucose metabolism 2 | -| GARD:3604 | Microcephaly-albinism-digital anomalies syndrome | -| GARD:5490 | Microcephaly-brachydactyly-kyphoscoliosis syndrome | -| GARD:3607 | Microcephaly-brain defect-spasticity-hypernatremia syndrome | -| GARD:17354 | Microcephaly-capillary malformation syndrome | -| GARD:2098 | Microcephaly-cardiac defect-lung malsegmentation syndrome | -| GARD:3609 | Microcephaly-cardiomyopathy syndrome | -| GARD:17502 | Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | -| GARD:3610 | Microcephaly-cervical spine fusion anomalies syndrome | -| GARD:8623 | Microcephaly-cleft palate-abnormal retinal pigmentation syndrome | -| GARD:21762 | Microcephaly-complex motor and sensory axonal neuropathy syndrome | -| GARD:17886 | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | -| GARD:17924 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | -| GARD:17803 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | -| GARD:230 | Microcephaly-deafness-intellectual disability syndrome | -| GARD:22145 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | -| GARD:17116 | Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type | -| GARD:3615 | Microcephaly-glomerulonephritis-marfanoid habitus syndrome | -| GARD:17804 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | -| GARD:3622 | Microcephaly-lymphedema-chorioretinopathy syndrome | -| GARD:3627 | Microcephaly-microcornea syndrome, Seemanova type | -| GARD:18011 | Microcephaly-micromelia syndrome | -| GARD:20125 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | -| GARD:18774 | Microcephaly-seizures-intellectual disability-heart disease syndrome | -| GARD:21751 | Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome | -| GARD:18655 | Microcephaly-short stature-limb abnormalities syndrome | -| GARD:17645 | Microcephaly-thin corpus callosum-intellectual disability syndrome | -| GARD:18383 | Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 | -| GARD:3637 | Microcornea-glaucoma-absent frontal sinuses syndrome | -| GARD:17593 | Microcornea-myopic chorioretinal atrophy-telecanthus syndrome | -| GARD:10938 | Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome | -| GARD:13020 | Microcystic lymphatic malformation | -| GARD:22304 | Microcystic stromal tumor | -| GARD:12360 | Microcytic anemia with liver iron overload | -| GARD:12766 | Microduplication Xp11.22p11.23 syndrome | -| GARD:17290 | Microform holoprosencephaly | -| GARD:3640 | Microgastria-limb reduction defect syndrome | -| GARD:17850 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | -| GARD:16555 | Microlissencephaly | -| GARD:18840 | Microlissencephaly-micromelia syndrome | -| GARD:1404 | Micromelic bone dysplasia with cloverleaf skull | -| GARD:3645 | Microphthalmia with brain and digit anomalies | -| GARD:722 | Microphthalmia with limb anomalies | -| GARD:3659 | Microphthalmia with linear skin defects syndrome | -| GARD:87 | Microphthalmia, Lenz type | -| GARD:18628 | Microphthalmia, isolated 6 | -| GARD:16110 | Microphthalmia, isolated, with coloboma 10 | -| GARD:15385 | Microphthalmia, isolated, with coloboma 2 | -| GARD:15471 | Microphthalmia, isolated, with coloboma 3 | -| GARD:15200 | Microphthalmia, isolated, with coloboma 4 | -| GARD:15524 | Microphthalmia, isolated, with coloboma 5 | -| GARD:15692 | Microphthalmia, isolated, with coloboma 6 | -| GARD:15811 | Microphthalmia, isolated, with coloboma 7 | -| GARD:15909 | Microphthalmia, isolated, with coloboma 9 | -| GARD:15304 | Microphthalmia, syndromic 1 | -| GARD:13235 | Microphthalmia, syndromic 12 | -| GARD:5066 | Microphthalmia-ankyloblepharon-intellectual disability syndrome | -| GARD:19493 | Microphthalmia-anophthalmia-coloboma | -| GARD:9292 | Microphthalmia-brain atrophy syndrome | -| GARD:3650 | Microphthalmia-microtia-fetal akinesia syndrome | -| GARD:17205 | Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome | -| GARD:3652 | Microscopic polyangiitis | -| GARD:5481 | Microspherophakia-metaphyseal dysplasia syndrome | -| GARD:3655 | Microsporidiosis | -| GARD:431 | Microtia | -| GARD:10300 | Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome | -| GARD:21142 | Microtriplication 11q24.1 | -| GARD:7039 | Microvillus inclusion disease | -| GARD:20082 | Micturation-induced seizures | -| GARD:20589 | Mid-dermal elastolysis | -| GARD:22321 | Middle East respiratory syndrome | -| GARD:20056 | Middle ear anomaly | -| GARD:19759 | Middle ear neuroendocrine tumor | -| GARD:20978 | Midline cerebral malformation | -| GARD:19971 | Midline cervical cleft | -| GARD:16832 | Midline interhemispheric variant of holoprosencephaly | -| GARD:3524 | Mietens syndrome | -| GARD:2638 | Migraine, familial hemiplegic, 1 | -| GARD:10095 | Migraine, familial hemiplegic, 2 | -| GARD:10974 | Migraine, familial hemiplegic, 3 | -| GARD:3617 | Mikati-Najjar-Sahli syndrome | -| GARD:17438 | Mild Canavan disease | -| GARD:17061 | Mild hemophilia A | -| GARD:17058 | Mild hemophilia B | -| GARD:19027 | Mild hyperphenylalaninemia | -| GARD:10324 | Mild phenylketonuria | -| GARD:17681 | Mild phosphoribosylpyrophosphate synthetase superactivity | -| GARD:16812 | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis | -| GARD:3668 | Miller Fisher syndrome | -| GARD:3669 | Miller-Dieker syndrome | -| GARD:19250 | Mills syndrome | -| GARD:7220 | Milroy disease | -| GARD:21529 | Minimal pigment oculocutaneous albinism type 1 | -| GARD:10177 | Mirizzi syndrome | -| GARD:15086 | Mirror movements 1 | -| GARD:15814 | Mirror movements 2 | -| GARD:16055 | Mirror movements 3 | -| GARD:16333 | Mirror movements 4 | -| GARD:18784 | Mirror polydactyly-vertebral segmentation-limbs defects syndrome | -| GARD:22034 | Mirror-image polydactyly | -| GARD:21285 | Miscellaneous movement disorder due to genetic neurodegenerative disease | -| GARD:21267 | Miscellaneous movement disorder due to neurodegenerative disease | -| GARD:420 | Mismatch repair cancer syndrome 1 | -| GARD:18362 | Mismatch repair cancer syndrome 2 | -| GARD:18363 | Mismatch repair cancer syndrome 3 | -| GARD:18364 | Mismatch repair cancer syndrome 4 | -| GARD:13643 | Mitochondrial DNA depletion syndrome | -| GARD:17225 | Mitochondrial DNA depletion syndrome, encephalomyopathic form | -| GARD:3681 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | -| GARD:13200 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy | -| GARD:13298 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | -| GARD:20769 | Mitochondrial DNA depletion syndrome, hepatocerebral form | -| GARD:13644 | Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | -| GARD:17564 | Mitochondrial DNA depletion syndrome, hepatocerebrorenal form | -| GARD:17228 | Mitochondrial DNA depletion syndrome, myopathic form | -| GARD:21520 | Mitochondrial DNA maintenance syndrome | -| GARD:3671 | Mitochondrial DNA-associated Leigh syndrome | -| GARD:18719 | Mitochondrial DNA-related cardiomyopathy and hearing loss | -| GARD:20767 | Mitochondrial DNA-related dystonia | -| GARD:20757 | Mitochondrial DNA-related mitochondrial myopathy | -| GARD:16479 | Mitochondrial DNA-related progressive external ophthalmoplegia | -| GARD:15201 | Mitochondrial complex i deficiency, nuclear type 1 | -| GARD:16320 | Mitochondrial complex i deficiency, nuclear type 10 | -| GARD:16321 | Mitochondrial complex i deficiency, nuclear type 11 | -| GARD:15283 | Mitochondrial complex i deficiency, nuclear type 12 | -| GARD:18371 | Mitochondrial complex i deficiency, nuclear type 13 | -| GARD:16322 | Mitochondrial complex i deficiency, nuclear type 14 | -| GARD:16323 | Mitochondrial complex i deficiency, nuclear type 15 | -| GARD:16324 | Mitochondrial complex i deficiency, nuclear type 16 | -| GARD:18372 | Mitochondrial complex i deficiency, nuclear type 17 | -| GARD:16325 | Mitochondrial complex i deficiency, nuclear type 18 | -| GARD:16326 | Mitochondrial complex i deficiency, nuclear type 19 | -| GARD:16312 | Mitochondrial complex i deficiency, nuclear type 2 | -| GARD:16327 | Mitochondrial complex i deficiency, nuclear type 21 | -| GARD:18373 | Mitochondrial complex i deficiency, nuclear type 22 | -| GARD:18374 | Mitochondrial complex i deficiency, nuclear type 23 | -| GARD:16328 | Mitochondrial complex i deficiency, nuclear type 24 | -| GARD:16329 | Mitochondrial complex i deficiency, nuclear type 25 | -| GARD:18375 | Mitochondrial complex i deficiency, nuclear type 27 | -| GARD:18376 | Mitochondrial complex i deficiency, nuclear type 28 | -| GARD:16330 | Mitochondrial complex i deficiency, nuclear type 29 | -| GARD:16313 | Mitochondrial complex i deficiency, nuclear type 3 | -| GARD:15284 | Mitochondrial complex i deficiency, nuclear type 30 | -| GARD:16331 | Mitochondrial complex i deficiency, nuclear type 31 | -| GARD:18067 | Mitochondrial complex i deficiency, nuclear type 32 | -| GARD:16332 | Mitochondrial complex i deficiency, nuclear type 33 | -| GARD:16378 | Mitochondrial complex i deficiency, nuclear type 34 | -| GARD:16401 | Mitochondrial complex i deficiency, nuclear type 35 | -| GARD:16431 | Mitochondrial complex i deficiency, nuclear type 36 | -| GARD:16440 | Mitochondrial complex i deficiency, nuclear type 37 | -| GARD:16314 | Mitochondrial complex i deficiency, nuclear type 4 | -| GARD:16315 | Mitochondrial complex i deficiency, nuclear type 5 | -| GARD:16316 | Mitochondrial complex i deficiency, nuclear type 6 | -| GARD:16317 | Mitochondrial complex i deficiency, nuclear type 7 | -| GARD:16318 | Mitochondrial complex i deficiency, nuclear type 8 | -| GARD:16319 | Mitochondrial complex i deficiency, nuclear type 9 | -| GARD:15202 | Mitochondrial complex ii deficiency, nuclear type 1 | -| GARD:16429 | Mitochondrial complex ii deficiency, nuclear type 2 | -| GARD:16430 | Mitochondrial complex ii deficiency, nuclear type 3 | -| GARD:16438 | Mitochondrial complex ii deficiency, nuclear type 4 | -| GARD:15056 | Mitochondrial complex iii deficiency, nuclear type 1 | -| GARD:16377 | Mitochondrial complex iii deficiency, nuclear type 10 | -| GARD:15910 | Mitochondrial complex iii deficiency, nuclear type 2 | -| GARD:15911 | Mitochondrial complex iii deficiency, nuclear type 3 | -| GARD:15912 | Mitochondrial complex iii deficiency, nuclear type 4 | -| GARD:15913 | Mitochondrial complex iii deficiency, nuclear type 5 | -| GARD:15970 | Mitochondrial complex iii deficiency, nuclear type 6 | -| GARD:16015 | Mitochondrial complex iii deficiency, nuclear type 7 | -| GARD:16018 | Mitochondrial complex iii deficiency, nuclear type 8 | -| GARD:16060 | Mitochondrial complex iii deficiency, nuclear type 9 | -| GARD:15158 | Mitochondrial complex iv deficiency, nuclear type 1 | -| GARD:16408 | Mitochondrial complex iv deficiency, nuclear type 10 | -| GARD:16409 | Mitochondrial complex iv deficiency, nuclear type 11 | -| GARD:16410 | Mitochondrial complex iv deficiency, nuclear type 12 | -| GARD:18573 | Mitochondrial complex iv deficiency, nuclear type 13 | -| GARD:16411 | Mitochondrial complex iv deficiency, nuclear type 14 | -| GARD:16412 | Mitochondrial complex iv deficiency, nuclear type 15 | -| GARD:16413 | Mitochondrial complex iv deficiency, nuclear type 16 | -| GARD:16414 | Mitochondrial complex iv deficiency, nuclear type 17 | -| GARD:16415 | Mitochondrial complex iv deficiency, nuclear type 18 | -| GARD:16416 | Mitochondrial complex iv deficiency, nuclear type 19 | -| GARD:18570 | Mitochondrial complex iv deficiency, nuclear type 2 | -| GARD:16417 | Mitochondrial complex iv deficiency, nuclear type 20 | -| GARD:16418 | Mitochondrial complex iv deficiency, nuclear type 21 | -| GARD:16448 | Mitochondrial complex iv deficiency, nuclear type 22 | -| GARD:16404 | Mitochondrial complex iv deficiency, nuclear type 3 | -| GARD:16405 | Mitochondrial complex iv deficiency, nuclear type 4 | -| GARD:15159 | Mitochondrial complex iv deficiency, nuclear type 5 | -| GARD:18571 | Mitochondrial complex iv deficiency, nuclear type 6 | -| GARD:16406 | Mitochondrial complex iv deficiency, nuclear type 7 | -| GARD:16407 | Mitochondrial complex iv deficiency, nuclear type 8 | -| GARD:18572 | Mitochondrial complex iv deficiency, nuclear type 9 | -| GARD:18660 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 1 | -| GARD:18666 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 3 | -| GARD:18667 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | -| GARD:18670 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 5 | -| GARD:18673 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 6 | -| GARD:18887 | Mitochondrial disease | -| GARD:20527 | Mitochondrial disease with dilated cardiomyopathy | -| GARD:20555 | Mitochondrial disease with epilepsy | -| GARD:20521 | Mitochondrial disease with hypertrophic cardiomyopathy | -| GARD:20556 | Mitochondrial disease with peripheral neuropathy | -| GARD:21322 | Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes | -| GARD:18814 | Mitochondrial disorder due to a defect in mitochondrial protein synthesis | -| GARD:15961 | Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive | -| GARD:18370 | Mitochondrial dna depletion syndrome 19 | -| GARD:18369 | Mitochondrial dna depletion syndrome 2 (myopathic type) | -| GARD:17428 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | -| GARD:12569 | Mitochondrial membrane protein-associated neurodegeneration | -| GARD:20761 | Mitochondrial membrane transport disorder | -| GARD:20371 | Mitochondrial myopathy | -| GARD:3885 | Mitochondrial myopathy and sideroblastic anemia | -| GARD:17227 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | -| GARD:17934 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | -| GARD:3682 | Mitochondrial myopathy-lactic acidosis-deafness syndrome | -| GARD:9920 | Mitochondrial neurogastrointestinal encephalomyopathy | -| GARD:16792 | Mitochondrial non-syndromic sensorineural deafness | -| GARD:20546 | Mitochondrial oxidative phosphorylation disorder | -| GARD:20755 | Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA | -| GARD:20756 | Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA | -| GARD:20754 | Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies | -| GARD:18771 | Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies | -| GARD:20760 | Mitochondrial oxidative phosphorylation disorder with no known mechanism | -| GARD:20763 | Mitochondrial protein import disorder | -| GARD:17771 | Mitochondrial pyruvate carrier deficiency | -| GARD:13019 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | -| GARD:20762 | Mitochondrial substrate carrier disorder | -| GARD:3684 | Mitochondrial trifunctional protein deficiency | -| GARD:3685 | Mitral atresia | -| GARD:19629 | Mitral valve agenesis | -| GARD:3688 | Mitral valve prolapse 1 | -| GARD:15421 | Mitral valve prolapse 2 | -| GARD:15501 | Mitral valve prolapse 3 | -| GARD:21456 | Mixed autoinflammatory and autoimmune syndrome | -| GARD:7051 | Mixed connective tissue disease | -| GARD:19220 | Mixed cryoglobulinemia type II | -| GARD:19221 | Mixed cryoglobulinemia type III | -| GARD:21912 | Mixed cystic lymphatic malformation | -| GARD:19009 | Mixed dermis disorder | -| GARD:21390 | Mixed functioning pituitary adenoma | -| GARD:20202 | Mixed germ cell tumor | -| GARD:20736 | Mixed germ cell tumor of central nervous system | -| GARD:22057 | Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas | -| GARD:20728 | Mixed neuronal-glial tumor | -| GARD:17972 | Mixed phenotype acute leukemia | -| GARD:22354 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | -| GARD:22357 | Mixed phenotype acute leukemia with t(v;11q23.3) | -| GARD:21439 | Mixed sclerosing bone dystrophy with extra-skeletal manifestations | -| GARD:19101 | Mixed-type autoimmune hemolytic anemia | -| GARD:15648 | Miyoshi muscular dystrophy 2 | -| GARD:9676 | Miyoshi myopathy | -| GARD:19108 | Moderate and severe traumatic brain injury | -| GARD:17060 | Moderate hemophilia A | -| GARD:17057 | Moderate hemophilia B | -| GARD:17078 | Moderate multiminicore disease with hand involvement | -| GARD:20896 | Moderately-differentiated thymic neuroendocrine carcinoma | -| GARD:8549 | Moebius syndrome | -| GARD:3698 | Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome | -| GARD:8331 | Mohr-Tranebjaerg syndrome | -| GARD:93 | Monilethrix | -| GARD:3531 | Monoamine oxidase A deficiency | -| GARD:12980 | Monoclonal mast cell activation syndrome | -| GARD:15203 | Monocyte chemotactic disorder | -| GARD:10934 | Monocytopenia with susceptibility to infections | -| GARD:20086 | Monogenic disease with epilepsy | -| GARD:9697 | Monomelic amyotrophy | -| GARD:4886 | Mononen-Karnes-Senac syndrome | -| GARD:16570 | Monosomy 13q14 | -| GARD:16847 | Monosomy 13q34 | -| GARD:8631 | Monosomy 18p | -| GARD:10865 | Monosomy 18q | -| GARD:10860 | Monosomy 21 | -| GARD:19324 | Monosomy 22 | -| GARD:10130 | Monosomy 22q13.3 | -| GARD:6213 | Monosomy 5p | -| GARD:18505 | Monosomy 7 myelodysplasia and leukemia syndrome 1 | -| GARD:18506 | Monosomy 7 myelodysplasia and leukemia syndrome 2 | -| GARD:3773 | Monosomy 9p | -| GARD:18934 | Monosomy 9q22.3 | -| GARD:19676 | Monosomy X | -| GARD:19181 | Monostotic fibrous dysplasia | -| GARD:22132 | Mooren ulcer | -| GARD:8593 | Morgagni-Stewart-Morel syndrome | -| GARD:13354 | Morning glory disc anomaly | -| GARD:9766 | Morvan syndrome | -| GARD:21493 | Mosaic genome-wide paternal uniparental disomy | -| GARD:19677 | Mosaic monosomy X | -| GARD:18736 | Mosaic trisomy 1 | -| GARD:19302 | Mosaic trisomy 10 | -| GARD:5304 | Mosaic trisomy 12 | -| GARD:1327 | Mosaic trisomy 14 | -| GARD:5313 | Mosaic trisomy 15 | -| GARD:18741 | Mosaic trisomy 16 | -| GARD:5317 | Mosaic trisomy 17 | -| GARD:5331 | Mosaic trisomy 2 | -| GARD:18744 | Mosaic trisomy 20 | -| GARD:6085 | Mosaic trisomy 22 | -| GARD:5342 | Mosaic trisomy 3 | -| GARD:19300 | Mosaic trisomy 4 | -| GARD:19301 | Mosaic trisomy 5 | -| GARD:5354 | Mosaic trisomy 7 | -| GARD:5359 | Mosaic trisomy 8 | -| GARD:43 | Mosaic trisomy 9 | -| GARD:3007 | Mosaic variegated aneuploidy syndrome | -| GARD:15758 | Mosaic variegated aneuploidy syndrome 2 | -| GARD:16240 | Mosaic variegated aneuploidy syndrome 3 | -| GARD:19477 | Motor neuron disease | -| GARD:21279 | Motor stereotypies | -| GARD:3793 | Mounier-Kühn syndrome | -| GARD:9673 | Mowat-Wilson syndrome | -| GARD:17249 | Mowat-Wilson syndrome due to a ZEB2 point mutation | -| GARD:17248 | Mowat-Wilson syndrome due to monosomy 2q22 | -| GARD:21964 | Moyamoya angiopathy | -| GARD:17301 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | -| GARD:7064 | Moyamoya disease | -| GARD:15410 | Moyamoya disease 2 | -| GARD:15442 | Moyamoya disease 3 | -| GARD:15746 | Moyamoya disease 5 | -| GARD:17664 | Moyamoya disease with early-onset achalasia | -| GARD:606 | Moynahan syndrome | -| GARD:19741 | Mu-heavy chain disease | -| GARD:21651 | Mucinous adenocarcinoma of ovary | -| GARD:21629 | Mucinous adenocarcinoma of the appendix | -| GARD:21778 | Mucinous cystadenocarcinoma of the pancreas | -| GARD:22257 | Mucinous cystadenoma of childhood | -| GARD:21418 | Mucinous tubular and spindle cell renal carcinoma | -| GARD:8472 | Muckle-Wells syndrome | -| GARD:16600 | Mucocutaneous venous malformations | -| GARD:18975 | Mucolipidosis | -| GARD:6749 | Mucolipidosis type II | -| GARD:3806 | Mucolipidosis type III | -| GARD:17704 | Mucolipidosis type III alpha/beta | -| GARD:17705 | Mucolipidosis type III gamma | -| GARD:94 | Mucolipidosis type IV | -| GARD:7065 | Mucopolysaccharidosis | -| GARD:10335 | Mucopolysaccharidosis type 1 | -| GARD:6675 | Mucopolysaccharidosis type 2 | -| GARD:17119 | Mucopolysaccharidosis type 2, attenuated form | -| GARD:17118 | Mucopolysaccharidosis type 2, severe form | -| GARD:3807 | Mucopolysaccharidosis type 3 | -| GARD:12562 | Mucopolysaccharidosis type 4 | -| GARD:3785 | Mucopolysaccharidosis type 4A | -| GARD:3786 | Mucopolysaccharidosis type 4B | -| GARD:7095 | Mucopolysaccharidosis type 6 | -| GARD:21046 | Mucopolysaccharidosis type 6, rapidly progressing | -| GARD:21047 | Mucopolysaccharidosis type 6, slowly progressing | -| GARD:7096 | Mucopolysaccharidosis type 7 | -| GARD:19016 | Mucopolysaccharidosis with skin involvement | -| GARD:17944 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | -| GARD:5913 | Mucous membrane pemphigoid | -| GARD:22283 | Mueller-Weiss syndrome | -| GARD:7097 | Muenke syndrome | -| GARD:6821 | Muir-Torre syndrome | -| GARD:95 | Mulibrey nanism | -| GARD:3818 | Multicentric carpo-tarsal osteolysis with or without nephropathy | -| GARD:13743 | Multicentric osteolysis, nodulosis, and arthropathy | -| GARD:17610 | Multicentric osteolysis-nodulosis-arthropathy spectrum | -| GARD:7103 | Multicentric reticulohistiocytosis | -| GARD:18748 | Multicystic dysplastic kidney | -| GARD:1235 | Multifocal atrial tachycardia | -| GARD:10467 | Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome | -| GARD:11011 | Multifocal motor neuropathy | -| GARD:19612 | Multifocal pattern dystrophy simulating fundus flavimaculatus | -| GARD:21417 | Multilocular cystic renal neoplasm of low malignant potential | -| GARD:19376 | Multiloculated renal cyst | -| GARD:16536 | Multiminicore myopathy | -| GARD:1671 | Multinodular goiter-cystic kidney-polydactyly syndrome | -| GARD:17922 | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | -| GARD:6523 | Multiple acyl-CoA dehydrogenase deficiency | -| GARD:17627 | Multiple acyl-CoA dehydrogenase deficiency, mild type | -| GARD:17626 | Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type | -| GARD:3589 | Multiple benign circumferential skin creases on limbs | -| GARD:3824 | Multiple carboxylase deficiency | -| GARD:12781 | Multiple congenital anomalies-hypotonia-seizures syndrome | -| GARD:16363 | Multiple congenital anomalies-hypotonia-seizures syndrome 4 | -| GARD:12777 | Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | -| GARD:18876 | Multiple congenital anomalies/dysmorphic syndrome | -| GARD:19833 | Multiple congenital anomalies/dysmorphic syndrome without intellectual disability | -| GARD:19832 | Multiple congenital anomalies/dysmorphic syndrome-intellectual disability | -| GARD:21044 | Multiple endocrine neoplasia | -| GARD:3829 | Multiple endocrine neoplasia type 1 | -| GARD:3830 | Multiple endocrine neoplasia type 2 | -| GARD:4881 | Multiple endocrine neoplasia type 2A | -| GARD:10225 | Multiple endocrine neoplasia type 2B | -| GARD:17275 | Multiple endocrine neoplasia type 4 | -| GARD:10756 | Multiple epiphyseal dysplasia | -| GARD:19191 | Multiple epiphyseal dysplasia and pseudoachondroplasia | -| GARD:15024 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | -| GARD:2180 | Multiple epiphyseal dysplasia type 1 | -| GARD:9793 | Multiple epiphyseal dysplasia type 4 | -| GARD:9794 | Multiple epiphyseal dysplasia type 5 | -| GARD:17014 | Multiple epiphyseal dysplasia, Al-Gazali type | -| GARD:17012 | Multiple epiphyseal dysplasia, Beighton type | -| GARD:17013 | Multiple epiphyseal dysplasia, Lowry type | -| GARD:17016 | Multiple epiphyseal dysplasia, with miniepiphyses | -| GARD:17015 | Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia | -| GARD:3013 | Multiple intestinal atresia | -| GARD:19192 | Multiple metaphyseal dysplasia | -| GARD:20758 | Multiple mitochondrial DNA deletion syndrome | -| GARD:12632 | Multiple mitochondrial dysfunctions syndrome | -| GARD:17661 | Multiple mitochondrial dysfunctions syndrome type 1 | -| GARD:17662 | Multiple mitochondrial dysfunctions syndrome type 2 | -| GARD:17555 | Multiple mitochondrial dysfunctions syndrome type 3 | -| GARD:17809 | Multiple mitochondrial dysfunctions syndrome type 4 | -| GARD:22305 | Multiple mitochondrial dysfunctions syndrome type 5 | -| GARD:18004 | Multiple mitochondrial dysfunctions syndrome type 6 | -| GARD:7108 | Multiple myeloma | -| GARD:7035 | Multiple osteochondromas | -| GARD:21435 | Multiple paragangliomas associated with polycythemia | -| GARD:19766 | Multiple polyglandular tumor | -| GARD:21177 | Multiple pterygium syndrome | -| GARD:3361 | Multiple pterygium-malignant hyperthermia syndrome | -| GARD:20571 | Multiple sclerosis variant | -| GARD:18787 | Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome | -| GARD:3090 | Multiple self-healing squamous epithelioma | -| GARD:5061 | Multiple sulfatase deficiency | -| GARD:6957 | Multiple symmetric lipomatosis | -| GARD:3836 | Multiple synostoses syndrome | -| GARD:15115 | Multiple synostoses syndrome 1 | -| GARD:9916 | Multiple synostoses syndrome 2 | -| GARD:15597 | Multiple synostoses syndrome 3 | -| GARD:7079 | Multiple system atrophy | -| GARD:20565 | Multiple system atrophy, cerebellar type | -| GARD:19604 | Multiple system atrophy, parkinsonian type | -| GARD:22403 | Multisystem inflammatory syndrome in children and adults | -| GARD:12811 | Multisystemic smooth muscle dysfunction syndrome | -| GARD:19033 | Murine typhus | -| GARD:17062 | Muscle filaminopathy | -| GARD:156 | Muscle-eye-brain disease | -| GARD:17608 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | -| GARD:2417 | Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome | -| GARD:18917 | Muscular channelopathy | -| GARD:7922 | Muscular dystrophy | -| GARD:17096 | Muscular dystrophy, Selcen type | -| GARD:15089 | Muscular dystrophy, pseudohypertrophic, with internalized capillaries | -| GARD:15317 | Muscular dystrophy, scapulohumeral | -| GARD:15898 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | -| GARD:15915 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | -| GARD:15927 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | -| GARD:15938 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | -| GARD:15948 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | -| GARD:15624 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 | -| GARD:15204 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 | -| GARD:15205 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 | -| GARD:15625 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 | -| GARD:15626 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 | -| GARD:15829 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 | -| GARD:15846 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | -| GARD:16134 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | -| GARD:18455 | Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 | -| GARD:18456 | Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 | -| GARD:16294 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8 | -| GARD:20370 | Muscular glycogenosis | -| GARD:21441 | Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome | -| GARD:20369 | Muscular lipidosis | -| GARD:8270 | Muscular pseudohypertrophy-hypothyroidism syndrome | -| GARD:20375 | Muscular tumor | -| GARD:8486 | Musculocontractural Ehlers-Danlos syndrome | -| GARD:19531 | Musculoskeletal disease with cataract | -| GARD:16959 | Mutilating hereditary sensory neuropathy with spastic paraplegia | -| GARD:4075 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | -| GARD:18775 | Myalgia-eosinophilia syndrome associated with tryptophan | -| GARD:7122 | Myasthenia gravis | -| GARD:15206 | Myasthenic syndrome, congenital, 10 | -| GARD:16089 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | -| GARD:18451 | Myasthenic syndrome, congenital, 12 | -| GARD:18452 | Myasthenic syndrome, congenital, 13 | -| GARD:18454 | Myasthenic syndrome, congenital, 14 | -| GARD:18453 | Myasthenic syndrome, congenital, 15 | -| GARD:15771 | Myasthenic syndrome, congenital, 16 | -| GARD:16080 | Myasthenic syndrome, congenital, 17 | -| GARD:16091 | Myasthenic syndrome, congenital, 18 | -| GARD:16153 | Myasthenic syndrome, congenital, 19 | -| GARD:15330 | Myasthenic syndrome, congenital, 1a, slow-channel | -| GARD:15445 | Myasthenic syndrome, congenital, 1b, fast-channel | -| GARD:16202 | Myasthenic syndrome, congenital, 20, presynaptic | -| GARD:16212 | Myasthenic syndrome, congenital, 21, presynaptic | -| GARD:16308 | Myasthenic syndrome, congenital, 23, presynaptic | -| GARD:16309 | Myasthenic syndrome, congenital, 24, presynaptic | -| GARD:16341 | Myasthenic syndrome, congenital, 25, presynaptic | -| GARD:9895 | Myasthenic syndrome, congenital, 2a, slow-channel | -| GARD:16083 | Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency | -| GARD:16084 | Myasthenic syndrome, congenital, 3a, slow-channel | -| GARD:16085 | Myasthenic syndrome, congenital, 3b, fast-channel | -| GARD:16086 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | -| GARD:15387 | Myasthenic syndrome, congenital, 4a, slow-channel | -| GARD:16087 | Myasthenic syndrome, congenital, 4b, fast-channel | -| GARD:10108 | Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency | -| GARD:18210 | Myasthenic syndrome, congenital, 5 | -| GARD:9689 | Myasthenic syndrome, congenital, 6, presynaptic | -| GARD:16053 | Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant | -| GARD:15908 | Myasthenic syndrome, congenital, 8 | -| GARD:16088 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | -| GARD:3862 | Mycetoma | -| GARD:2456 | Mycobacterium tuberculosis, susceptibility to | -| GARD:20946 | Mycophenolate mofetil embryopathy | -| GARD:19040 | Mycoplasma encephalitis | -| GARD:20166 | Mycosis fungoides and variants | -| GARD:20966 | Myelocystocele | -| GARD:7132 | Myelodysplastic syndrome | -| GARD:8723 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | -| GARD:9351 | Myelodysplastic/myeloproliferative disease | -| GARD:20130 | Myeloid hemopathy | -| GARD:12763 | Myeloid sarcoma | -| GARD:17043 | Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement | -| GARD:22355 | Myeloid/lymphoid neoplasm associated with JAK2 rearrangement | -| GARD:20106 | Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement | -| GARD:20107 | Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement | -| GARD:20105 | Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 | -| GARD:3475 | Myelomeningocele | -| GARD:3868 | Myeloperoxidase deficiency | -| GARD:9319 | Myeloproliferative neoplasm | -| GARD:2572 | Myhre syndrome | -| GARD:18924 | Myiasis | -| GARD:19088 | Myoclonic epilepsy in non-progressive encephalopathies | -| GARD:19086 | Myoclonic epilepsy of infancy | -| GARD:15443 | Myoclonic epilepsy, juvenile, susceptibility to, 3 | -| GARD:15513 | Myoclonic epilepsy, juvenile, susceptibility to, 4 | -| GARD:2169 | Myoclonic-astatic epilepsy | -| GARD:16108 | Myoclonic-atonic epilepsy | -| GARD:3873 | Myoclonus-cerebellar ataxia-deafness syndrome | -| GARD:7139 | Myoclonus-dystonia syndrome | -| GARD:10529 | Myofibrillar myopathy | -| GARD:15939 | Myofibromatosis, infantile, 2 | -| GARD:18251 | Myoglobinuria, acute recurrent, autosomal recessive | -| GARD:3879 | Myoglobinuria, recurrent | -| GARD:22215 | Myopathic Ehlers-Danlos syndrome | -| GARD:19853 | Myopathic intestinal pseudoobstruction | -| GARD:3881 | Myopathy and diabetes mellitus | -| GARD:15248 | Myopathy due to myoadenylate deaminase deficiency | -| GARD:20129 | Myopathy with hexagonally cross-linked tubular arrays | -| GARD:15208 | Myopathy, centronuclear, 2 | -| GARD:16035 | Myopathy, centronuclear, 5 | -| GARD:16250 | Myopathy, centronuclear, 6, with fiber-type disproportion | -| GARD:15258 | Myopathy, congenital, with fiber-type disproportion, x-linked | -| GARD:16204 | Myopathy, distal, with rimmed vacuoles | -| GARD:15676 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | -| GARD:15312 | Myopathy, lactic acidosis, and sideroblastic anemia 3 | -| GARD:15429 | Myopathy, myosin storage, autosomal dominant | -| GARD:15207 | Myopathy, myosin storage, autosomal recessive | -| GARD:16026 | Myopathy, tubular aggregate, 2 | -| GARD:21152 | Myopericytoma | -| GARD:18198 | Myopia 23, autosomal recessive | -| GARD:9937 | Myopia 6 | -| GARD:18197 | Myopia, high, with cataract and vitreoretinal degeneration | -| GARD:20153 | Myopic macular degeneration | -| GARD:17325 | Myosclerosis | -| GARD:21255 | Myospherulosis | -| GARD:10238 | Myostatin-related muscle hypertrophy | -| GARD:20440 | Myotilinopathy | -| GARD:6176 | Myotonia congenita, autosomal dominant | -| GARD:844 | Myotonia congenita, autosomal recessive | -| GARD:16904 | Myotonia fluctuans | -| GARD:16905 | Myotonia permanens | -| GARD:10419 | Myotonic dystrophy | -| GARD:20372 | Myotonic syndrome | -| GARD:18941 | Myxofibrosarcoma | -| GARD:15667 | Myxoid liposarcoma | -| GARD:7157 | Myxoid/round cell liposarcoma | -| GARD:10633 | Myxopapillary ependymoma | -| GARD:2436 | Ménétrier disease | -| GARD:7100 | Müllerian aplasia | -| GARD:17195 | Müllerian aplasia and hyperandrogenism | -| GARD:5430 | Müllerian derivatives-lymphangiectasia-polydactyly syndrome | -| GARD:2908 | Müllerian duct anomalies-limb anomalies syndrome | -| GARD:3902 | N syndrome | -| GARD:17990 | NAD(P)HX dehydratase deficiency | -| GARD:17991 | NAD(P)HX epimerase deficiency | -| GARD:262 | NARP syndrome | -| GARD:10216 | NDE1-related microhydranencephaly | -| GARD:17818 | NEK9-related lethal skeletal dysplasia | -| GARD:21593 | NEVADA syndrome | -| GARD:21864 | NIK deficiency | -| GARD:20905 | NK-cell enteropathy | -| GARD:17964 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | -| GARD:18014 | NLRC4-related familial cold autoinflammatory syndrome | -| GARD:17201 | NLRP12-associated hereditary periodic fever syndrome | -| GARD:20513 | NMDA receptor encephalitis | -| GARD:4665 | NPHP3-related Meckel-like syndrome | -| GARD:22416 | NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance | -| GARD:17790 | NTHL1-related attenuated familial adenomatous polyposis | -| GARD:21852 | NUT midline carcinoma | -| GARD:3912 | Naegeli-Franceschetti-Jadassohn syndrome | -| GARD:498 | Nager syndrome | -| GARD:17703 | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | -| GARD:18999 | Nail anomaly | -| GARD:15040 | Nail disorder, nonsyndromic congenital, 6 | -| GARD:15762 | Nail disorder, nonsyndromic congenital, 9 | -| GARD:7160 | Nail-patella syndrome | -| GARD:321 | Nail-patella-like renal disease | -| GARD:7161 | Nance-Horan syndrome | -| GARD:16637 | Nanophthalmos | -| GARD:18625 | Nanophthalmos 1 | -| GARD:18626 | Nanophthalmos 2 | -| GARD:18627 | Nanophthalmos 3 | -| GARD:18629 | Nanophthalmos 4 | -| GARD:22460 | Narcolepsy | -| GARD:15091 | Narcolepsy 1 | -| GARD:15388 | Narcolepsy 2, susceptibility to | -| GARD:15447 | Narcolepsy 3 | -| GARD:15555 | Narcolepsy 4, susceptibility to | -| GARD:15587 | Narcolepsy 5, susceptibility to | -| GARD:15779 | Narcolepsy 6, susceptibility to | -| GARD:15783 | Narcolepsy 7 | -| GARD:7162 | Narcolepsy type 1 | -| GARD:19038 | Narcolepsy type 2 | -| GARD:16970 | Nasal dermoid cyst | -| GARD:19963 | Nasal dorsum fistula | -| GARD:19951 | Nasal encephalocele | -| GARD:19950 | Nasal ganglioglioma | -| GARD:19949 | Nasal glial heterotopia | -| GARD:19944 | Nasolacrimal duct cyst | -| GARD:3927 | Nasopalpebral lipoma-coloboma syndrome | -| GARD:7163 | Nasopharyngeal carcinoma | -| GARD:15092 | Nasopharyngeal carcinoma, susceptibility to, 2 | -| GARD:16184 | Nasopharyngeal carcinoma, susceptibility to, 3 | -| GARD:19948 | Nasopharyngeal teratoma | -| GARD:9921 | Nasu-Hakola disease | -| GARD:3929 | Nathalie syndrome | -| GARD:8432 | Native American myopathy | -| GARD:3972 | Navajo neurohepatopathy | -| GARD:9795 | Naxos disease | -| GARD:13040 | Necrobiosis lipoidica | -| GARD:10951 | Necrobiotic xanthogranuloma | -| GARD:9767 | Necrotizing enterocolitis | -| GARD:21839 | Necrotizing soft tissue infection | -| GARD:7170 | Nelson syndrome | -| GARD:12033 | Nemaline myopathy | -| GARD:15453 | Nemaline myopathy 1 | -| GARD:16066 | Nemaline myopathy 10 | -| GARD:16222 | Nemaline myopathy 11, autosomal recessive | -| GARD:15209 | Nemaline myopathy 2 | -| GARD:10111 | Nemaline myopathy 3 | -| GARD:15454 | Nemaline myopathy 4 | -| GARD:15452 | Nemaline myopathy 6 | -| GARD:15493 | Nemaline myopathy 7 | -| GARD:15946 | Nemaline myopathy 8 | -| GARD:16007 | Nemaline myopathy 9 | -| GARD:21128 | Neonatal Marfan syndrome | -| GARD:17126 | Neonatal acute respiratory distress due to SP-B deficiency | -| GARD:559 | Neonatal adrenoleukodystrophy | -| GARD:21929 | Neonatal alloimmune neutropenia | -| GARD:21644 | Neonatal antiphospholipid syndrome | -| GARD:21645 | Neonatal autoimmune hemolytic anemia | -| GARD:19892 | Neonatal brainstem dysfunction | -| GARD:21646 | Neonatal dermatomyositis | -| GARD:18682 | Neonatal diabetes mellitus | -| GARD:16699 | Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome | -| GARD:17796 | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | -| GARD:19435 | Neonatal epilepsy syndrome | -| GARD:17994 | Neonatal epileptic encephalopathy due to glutaminase deficiency | -| GARD:17332 | Neonatal glycine encephalopathy | -| GARD:7172 | Neonatal hemochromatosis | -| GARD:19875 | Neonatal hypoxic and ischemic brain injury | -| GARD:10583 | Neonatal ichthyosis-sclerosing cholangitis syndrome | -| GARD:17355 | Neonatal inflammatory skin and bowel disease | -| GARD:10214 | Neonatal intrahepatic cholestasis due to citrin deficiency | -| GARD:20644 | Neonatal iodine exposure | -| GARD:21647 | Neonatal lupus erythematosus | -| GARD:19199 | Neonatal osteosclerotic dysplasia | -| GARD:21648 | Neonatal scleroderma | -| GARD:17831 | Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect | -| GARD:2838 | Neonatal severe primary hyperparathyroidism | -| GARD:22462 | Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 | -| GARD:19245 | Neovascular glaucoma | -| GARD:7892 | Nephroblastoma | -| GARD:7178 | Nephrogenic diabetes insipidus | -| GARD:259 | Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome | -| GARD:10306 | Nephrogenic syndrome of inappropriate antidiuresis | -| GARD:9725 | Nephrogenic systemic fibrosis | -| GARD:15305 | Nephrolithiasis, x-linked recessive, with renal failure | -| GARD:18346 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | -| GARD:18347 | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | -| GARD:206 | Nephronophthisis | -| GARD:18080 | Nephronophthisis 11 | -| GARD:15852 | Nephronophthisis 15 | -| GARD:18183 | Nephronophthisis 16 | -| GARD:18081 | Nephronophthisis 19 | -| GARD:18182 | Nephronophthisis 2 | -| GARD:18181 | Nephronophthisis 20 | -| GARD:18179 | Nephronophthisis 3 | -| GARD:18180 | Nephronophthisis-like nephropathy 1 | -| GARD:19229 | Nephropathy secondary to a storage or other metabolic disease | -| GARD:15344 | Nephropathy, progressive tubulointerstitial, with cholestatic liver disease | -| GARD:3940 | Nephropathy-deafness-hyperparathyroidism syndrome | -| GARD:3943 | Nephrosis-deafness-urinary tract-digital malformations syndrome | -| GARD:22294 | Nephrotic syndrome without extrarenal manifestations | -| GARD:16155 | Nephrotic syndrome, type 11 | -| GARD:16166 | Nephrotic syndrome, type 12 | -| GARD:16167 | Nephrotic syndrome, type 13 | -| GARD:16299 | Nephrotic syndrome, type 17 | -| GARD:16300 | Nephrotic syndrome, type 18 | -| GARD:16301 | Nephrotic syndrome, type 19 | -| GARD:15326 | Nephrotic syndrome, type 2 | -| GARD:15285 | Nephrotic syndrome, type 20 | -| GARD:16428 | Nephrotic syndrome, type 22 | -| GARD:16435 | Nephrotic syndrome, type 23 | -| GARD:15495 | Nephrotic syndrome, type 3 | -| GARD:15210 | Nephrotic syndrome, type 4 | -| GARD:15770 | Nephrotic syndrome, type 6 | -| GARD:18557 | Nephrotic syndrome, type 7 | -| GARD:15925 | Nephrotic syndrome, type 8 | -| GARD:15989 | Nephrotic syndrome, type 9 | -| GARD:17367 | Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome | -| GARD:16459 | Nescav syndrome | -| GARD:11008 | Nestor-Guillermo progeria syndrome | -| GARD:7182 | Netherton syndrome | -| GARD:102 | Neu-Laxova syndrome | -| GARD:22336 | Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency | -| GARD:22337 | Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency | -| GARD:22335 | Neu-laxova syndrome due to phosphoserine aminotransferase deficiency | -| GARD:19638 | Neuhauser anomaly | -| GARD:3949 | Neuhauser-Eichner-Opitz syndrome | -| GARD:17268 | Neural tube closure defect | -| GARD:18796 | Neural tube defect | -| GARD:4228 | Neuralgic amyotrophy | -| GARD:20975 | Neurenteric cyst | -| GARD:19930 | Neuro-ophthalmological disease | -| GARD:10902 | Neuroacanthocytosis | -| GARD:7185 | Neuroblastoma | -| GARD:15211 | Neuroblastoma, susceptibility to, 1 | -| GARD:15603 | Neuroblastoma, susceptibility to, 2 | -| GARD:15604 | Neuroblastoma, susceptibility to, 3 | -| GARD:15605 | Neuroblastoma, susceptibility to, 4 | -| GARD:15606 | Neuroblastoma, susceptibility to, 5 | -| GARD:15607 | Neuroblastoma, susceptibility to, 6 | -| GARD:16161 | Neuroblastoma, susceptibility to, 7 | -| GARD:7186 | Neurocutaneous melanocytosis | -| GARD:20084 | Neurocutaneous syndrome with epilepsy | -| GARD:13202 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | -| GARD:11899 | Neurodegeneration with brain iron accumulation | -| GARD:10688 | Neurodegeneration with brain iron accumulation 2b | -| GARD:21271 | Neurodegenerative disease with chorea | -| GARD:19484 | Neurodegenerative disease with dementia | -| GARD:10594 | Neurodegenerative syndrome due to cerebral folate transport deficiency | -| GARD:17969 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | -| GARD:18519 | Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly | -| GARD:18542 | Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | -| GARD:18545 | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | -| GARD:18513 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | -| GARD:18521 | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | -| GARD:18543 | Neurodevelopmental disorder with dysmorphic facies and variable seizures | -| GARD:18528 | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | -| GARD:22564 | Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities | -| GARD:13539 | Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features | -| GARD:18515 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | -| GARD:16232 | Neurodevelopmental disorder with involuntary movements | -| GARD:22576 | Neurodevelopmental disorder with microcephaly, ataxia, and seizures | -| GARD:18534 | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | -| GARD:18535 | Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | -| GARD:18532 | Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy | -| GARD:18540 | Neurodevelopmental disorder with or without autism or seizures | -| GARD:18539 | Neurodevelopmental disorder with or without early-onset generalized epilepsy | -| GARD:13686 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | -| GARD:18502 | Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy | -| GARD:16123 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities | -| GARD:18531 | Neurodevelopmental disorder with seizures and brain atrophy | -| GARD:18524 | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | -| GARD:16130 | Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities | -| GARD:18530 | Neurodevelopmental disorder with speech impairment and dysmorphic facies | -| GARD:17785 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome | -| GARD:21526 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | -| GARD:13418 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | -| GARD:18523 | Neurodevelopmental, jaw, eye, and digital syndrome | -| GARD:16630 | Neuroectodermal melanolysosomal disease | -| GARD:22056 | Neuroendocrine carcinoma of pancreas | -| GARD:20517 | Neuroendocrine cell hyperplasia of infancy | -| GARD:9316 | Neuroendocrine neoplasm | -| GARD:19754 | Neuroendocrine neoplasm of appendix | -| GARD:22058 | Neuroendocrine neoplasm of esophagus | -| GARD:22052 | Neuroendocrine neoplasm of pancreas | -| GARD:19757 | Neuroendocrine tumor of anal canal | -| GARD:13034 | Neuroendocrine tumor of pancreas | -| GARD:19750 | Neuroendocrine tumor of stomach | -| GARD:19755 | Neuroendocrine tumor of the colon | -| GARD:19756 | Neuroendocrine tumor of the rectum | -| GARD:21765 | Neuroendocrine tumor of the small intestine | -| GARD:19768 | Neuroendocrine tumor with other location | -| GARD:3964 | Neurofaciodigitorenal syndrome | -| GARD:10686 | Neuroferritinopathy | -| GARD:7191 | Neurofibroma | -| GARD:7866 | Neurofibromatosis type 1 | -| GARD:17570 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | -| GARD:7193 | Neurofibromatosis type 2 | -| GARD:3967 | Neurofibromatosis type 6 | -| GARD:15094 | Neurofibromatosis, type iii, mixed central and peripheral | -| GARD:372 | Neurofibromatosis-Noonan syndrome | -| GARD:790 | Neurogenic arthrogryposis multiplex congenita | -| GARD:10312 | Neurogenic scapuloperoneal syndrome, Kaeser type | -| GARD:19749 | Neurogenic thoracic outlet syndrome | -| GARD:7195 | Neuroleptic malignant syndrome | -| GARD:19574 | Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect | -| GARD:19573 | Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect | -| GARD:19570 | Neurological channelopathy of the central nervous system due to a genetic calcium channel defect | -| GARD:22219 | Neurological channelopathy of the central nervous system due to a genetic chloride channel defect | -| GARD:19572 | Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect | -| GARD:19571 | Neurological channelopathy of the central nervous system due to a genetic potassium channel defect | -| GARD:19569 | Neurological channelopathy of the central nervous system due to a genetic sodium channel defect | -| GARD:9741 | Neurological conditions associated with aminoacylase 1 deficiency | -| GARD:19565 | Neurological muscular channelopathy due to a genetic calcium channel defect | -| GARD:19564 | Neurological muscular channelopathy due to a genetic chloride channel defect | -| GARD:19566 | Neurological muscular channelopathy due to a genetic potassium channel defect | -| GARD:19567 | Neurological muscular channelopathy due to a genetic ryanodine receptor defect | -| GARD:19563 | Neurological muscular channelopathy due to a genetic sodium channel defect | -| GARD:20354 | Neurolymphomatosis | -| GARD:18890 | Neurometabolic disease | -| GARD:18815 | Neurometabolic disorder due to serine deficiency | -| GARD:18888 | Neuromuscular disease | -| GARD:20526 | Neuromuscular disease with dilated cardiomyopathy | -| GARD:19473 | Neuromuscular junction disease | -| GARD:6267 | Neuromyelitis optica spectrum disorder | -| GARD:22372 | Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies | -| GARD:22373 | Neuromyelitis optica spectrum disorder with anti-MOG antibodies | -| GARD:22374 | Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies | -| GARD:10739 | Neuronal ceroid lipofuscinosis | -| GARD:3928 | Neuronal intestinal pseudoobstruction | -| GARD:3971 | Neuronal intranuclear inclusion disease | -| GARD:20726 | Neuronal tumor | -| GARD:18262 | Neuronopathy, distal hereditary motor, type iia | -| GARD:18263 | Neuronopathy, distal hereditary motor, type iib | -| GARD:18264 | Neuronopathy, distal hereditary motor, type iic | -| GARD:18265 | Neuronopathy, distal hereditary motor, type iid | -| GARD:18266 | Neuronopathy, distal hereditary motor, type va | -| GARD:18267 | Neuronopathy, distal hereditary motor, type vb | -| GARD:18268 | Neuronopathy, distal hereditary motor, type vc | -| GARD:18269 | Neuronopathy, distal hereditary motor, type viia | -| GARD:18270 | Neuronopathy, distal hereditary motor, type viib | -| GARD:19919 | Neuropathy with hearing impairment | -| GARD:18567 | Neuropathy, congenital hypomyelinating, 3 | -| GARD:18091 | Neuropathy, hereditary motor and sensory, type via, with optic atrophy | -| GARD:18092 | Neuropathy, hereditary motor and sensory, type vib, with optic atrophy | -| GARD:18444 | Neuropathy, hereditary motor, with myopathic features | -| GARD:15095 | Neuropathy, hereditary sensory and autonomic, type ia | -| GARD:15683 | Neuropathy, hereditary sensory and autonomic, type ic | -| GARD:15129 | Neuropathy, hereditary sensory and autonomic, type iia | -| GARD:15618 | Neuropathy, hereditary sensory and autonomic, type iib | -| GARD:15695 | Neuropathy, hereditary sensory, type id | -| GARD:15995 | Neuropathy, hereditary sensory, type if | -| GARD:15774 | Neuropathy, hereditary sensory, type iic | -| GARD:19878 | Neurotrophic keratopathy | -| GARD:19819 | Neurovascular malformation | -| GARD:3262 | Neutral lipid storage disease | -| GARD:3979 | Neutral lipid storage disease with ichthyosis | -| GARD:10288 | Neutral lipid storage myopathy | -| GARD:6107 | Neutropenia, lethal congenital, with eosinophilia | -| GARD:15616 | Neutropenia, severe congenital, 2, autosomal dominant | -| GARD:16375 | Neutropenia, severe congenital, 8, autosomal dominant | -| GARD:3982 | Neutropenia-monocytopenia-deafness syndrome | -| GARD:17087 | Neutrophil immunodeficiency syndrome | -| GARD:13073 | Nevus comedonicus syndrome | -| GARD:10830 | Nevus of Ito | -| GARD:20901 | Nevus of Ota | -| GARD:12244 | New-onset refractory status epilepticus | -| GARD:270 | Nicolaides-Baraitser syndrome | -| GARD:7207 | Niemann-Pick disease type C | -| GARD:20508 | Niemann-Pick disease type C, adult neurologic onset | -| GARD:20507 | Niemann-Pick disease type C, juvenile neurologic onset | -| GARD:20506 | Niemann-Pick disease type C, late infantile neurologic onset | -| GARD:20505 | Niemann-Pick disease type C, severe early infantile neurologic onset | -| GARD:20504 | Niemann-Pick disease type C, severe perinatal form | -| GARD:15488 | Night blindness, congenital stationary, autosomal dominant 1 | -| GARD:15096 | Night blindness, congenital stationary, autosomal dominant 2 | -| GARD:15487 | Night blindness, congenital stationary, autosomal dominant 3 | -| GARD:15306 | Night blindness, congenital stationary, type 1a | -| GARD:15212 | Night blindness, congenital stationary, type 1b | -| GARD:15631 | Night blindness, congenital stationary, type 1c | -| GARD:15721 | Night blindness, congenital stationary, type 1d | -| GARD:15816 | Night blindness, congenital stationary, type 1e | -| GARD:15899 | Night blindness, congenital stationary, type 1f | -| GARD:16099 | Night blindness, congenital stationary, type 1g | -| GARD:16177 | Night blindness, congenital stationary, type 1h | -| GARD:15251 | Night blindness, congenital stationary, type 2a | -| GARD:16364 | Night blindness, congenital stationary, type1i | -| GARD:3994 | Night blindness-skeletal anomalies-dysmorphism syndrome | -| GARD:3904 | Nijmegen breakage syndrome | -| GARD:17184 | Nijmegen breakage syndrome-like disorder | -| GARD:19689 | Nipah virus disease | -| GARD:7210 | Nocardiosis | -| GARD:19075 | Nodal marginal zone B-cell lymphoma | -| GARD:10562 | Nodular cutaneous amyloidosis | -| GARD:21959 | Nodular fasciitis | -| GARD:19137 | Nodular lichen myxedematosus | -| GARD:19079 | Nodular lymphocyte predominant Hodgkin lymphoma | -| GARD:16586 | Nodular neuronal heterotopia | -| GARD:7879 | Nodular non-suppurative panniculitis | -| GARD:10929 | Nodular regenerative hyperplasia of the liver | -| GARD:20035 | Nodular urticaria pigmentosa | -| GARD:4001 | Noma | -| GARD:21278 | Non progressive epilepsy and/or ataxia with myoclonus as a major feature | -| GARD:21185 | Non syndromic limb overgrowth | -| GARD:10949 | Non-24-hour sleep-wake syndrome | -| GARD:11953 | Non-Hodgkin lymphoma | -| GARD:8231 | Non-Langerhans cell histiocytosis | -| GARD:20140 | Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations | -| GARD:2252 | Non-acquired combined pituitary hormone deficiency | -| GARD:10603 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | -| GARD:12556 | Non-acquired isolated growth hormone deficiency | -| GARD:15020 | Non-acquired panhypopituitarism | -| GARD:19272 | Non-acquired pituitary hormone deficiency | -| GARD:19294 | Non-acquired premature ovarian failure | -| GARD:12740 | Non-amyloid fibrillary glomerulopathy | -| GARD:19073 | Non-amyloid monoclonal immunoglobulin deposition disease | -| GARD:21137 | Non-central nervous system-localized embryonal carcinoma | -| GARD:21474 | Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency | -| GARD:18729 | Non-distal monosomy 10q | -| GARD:19330 | Non-distal monosomy 12q | -| GARD:18737 | Non-distal trisomy 10q | -| GARD:18738 | Non-distal trisomy 13q | -| GARD:19323 | Non-distal trisomy 9q | -| GARD:20363 | Non-dystrophic myopathy | -| GARD:1862 | Non-epidermolytic palmoplantar keratoderma | -| GARD:5027 | Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome | -| GARD:20530 | Non-familial dilated cardiomyopathy | -| GARD:20524 | Non-familial hypertrophic cardiomyopathy | -| GARD:21452 | Non-familial rare disease with dilated cardiomyopathy | -| GARD:20535 | Non-familial restrictive cardiomyopathy | -| GARD:22054 | Non-functioning neuroendocrine tumor of pancreas | -| GARD:19248 | Non-functioning paraganglioma | -| GARD:19159 | Non-functioning pituitary adenoma | -| GARD:20537 | Non-genetic cardiac rhythm disease | -| GARD:22291 | Non-genetic systemic disease with glomerulopathy as a major feature | -| GARD:20655 | Non-hereditary degenerative ataxia | -| GARD:17545 | Non-hereditary retinoblastoma | -| GARD:18701 | Non-histaminic angioedema | -| GARD:21495 | Non-hypoproteinemic hypertrophic gastropathy | -| GARD:17580 | Non-immune hydrops fetalis | -| GARD:21260 | Non-infectious anterior uveitis | -| GARD:19111 | Non-infectious posterior uveitis | -| GARD:22014 | Non-inflammatory vasculopathy | -| GARD:21056 | Non-insulinoma pancreatogenous hypoglycemia syndrome | -| GARD:10890 | Non-involuting congenital hemangioma | -| GARD:20447 | Non-papillary transitional cell carcinoma of the bladder | -| GARD:20413 | Non-paraneoplastic sensory ganglionopathy | -| GARD:17429 | Non-progressive cerebellar ataxia with intellectual disability | -| GARD:21819 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | -| GARD:21826 | Non-recovering obstetric brachial plexus lesion | -| GARD:18679 | Non-rhizomelic chondrodysplasia punctata | -| GARD:17561 | Non-seminomatous germ cell tumor of testis | -| GARD:21981 | Non-severe combined immunodeficiency | -| GARD:22500 | Non-specific autoimmune brainstem encephalitis with characteristic antibodies | -| GARD:22501 | Non-specific autoimmune brainstem encephalitis without characteristic antibodies | -| GARD:22503 | Non-specific autoimmune cerebellar ataxia with characteristic antibodies | -| GARD:22504 | Non-specific autoimmune cerebellar ataxia without characteristic antibodies | -| GARD:22497 | Non-specific autoimmune supratentorial encephalitis with characteristic antibodies | -| GARD:22498 | Non-specific autoimmune supratentorial encephalitis without characteristic antibodies | -| GARD:15028 | Non-specific early-onset epileptic encephalopathy | -| GARD:19167 | Non-specific interstitial pneumonia | -| GARD:17965 | Non-specific syndromic intellectual disability | -| GARD:3672 | Non-spherocytic hemolytic anemia due to hexokinase deficiency | -| GARD:16534 | Non-syndromic anorectal malformation | -| GARD:22433 | Non-syndromic anorectal malformation with H-type fistula | -| GARD:22428 | Non-syndromic anorectal malformation with anal stenosis | -| GARD:22420 | Non-syndromic anorectal malformation with perineal fistula | -| GARD:22429 | Non-syndromic anorectal malformation with pouch colon | -| GARD:22430 | Non-syndromic anorectal malformation with rectal atresia | -| GARD:22431 | Non-syndromic anorectal malformation with rectal stenosis | -| GARD:22421 | Non-syndromic anorectal malformation with rectourethral fistula | -| GARD:22422 | Non-syndromic anorectal malformation with rectourethral fistula, bulbar type | -| GARD:22423 | Non-syndromic anorectal malformation with rectourethral fistula, prostatic type | -| GARD:22432 | Non-syndromic anorectal malformation with rectovaginal fistula | -| GARD:22424 | Non-syndromic anorectal malformation with rectovesical fistula | -| GARD:22425 | Non-syndromic anorectal malformation with vestibular fistula | -| GARD:22427 | Non-syndromic anorectal malformation without fistula | -| GARD:22479 | Non-syndromic bicoronal and metopic craniosynostosis | -| GARD:22480 | Non-syndromic bicoronal and sagittal craniosynostosis | -| GARD:16634 | Non-syndromic bicoronal craniosynostosis | -| GARD:1575 | Non-syndromic bilambdoid and sagittal craniosynostosis | -| GARD:22476 | Non-syndromic bilambdoid craniosynostosis | -| GARD:19865 | Non-syndromic central nervous system malformation | -| GARD:20338 | Non-syndromic cerebral malformation | -| GARD:20041 | Non-syndromic cerebral malformation due to abnormal neuronal migration | -| GARD:22426 | Non-syndromic cloacal malformation | -| GARD:22028 | Non-syndromic complex polydactyly | -| GARD:19910 | Non-syndromic craniosynostosis | -| GARD:19863 | Non-syndromic diaphragmatic or abdominal wall malformation | -| GARD:20211 | Non-syndromic diaphragmatic or thoracic malformation | -| GARD:19855 | Non-syndromic esophageal malformation | -| GARD:19857 | Non-syndromic gastroduodenal malformation | -| GARD:19091 | Non-syndromic genetic deafness | -| GARD:19859 | Non-syndromic intestinal malformation | -| GARD:19872 | Non-syndromic limb malformation | -| GARD:19210 | Non-syndromic limb reduction defect | -| GARD:17277 | Non-syndromic male infertility due to sperm motility disorder | -| GARD:22478 | Non-syndromic metopic and sagittal craniosynostosis | -| GARD:16626 | Non-syndromic metopic craniosynostosis | -| GARD:22474 | Non-syndromic multisutural craniosynostosis | -| GARD:22475 | Non-syndromic non-specific multisutural craniosynostosis | -| GARD:22481 | Non-syndromic pansynostosis | -| GARD:4410 | Non-syndromic polydactyly | -| GARD:19211 | Non-syndromic polydactyly, syndactyly and/or hyperphalangy | -| GARD:10977 | Non-syndromic pontocerebellar hypoplasia | -| GARD:22027 | Non-syndromic postaxial polydactyly | -| GARD:16840 | Non-syndromic posterior hypospadias | -| GARD:22026 | Non-syndromic preaxial polydactyly | -| GARD:19217 | Non-syndromic renal or urinary tract malformation | -| GARD:19867 | Non-syndromic respiratory or mediastinal malformation | -| GARD:16633 | Non-syndromic sagittal craniosynostosis | -| GARD:19100 | Non-syndromic syndactyly | -| GARD:22477 | Non-syndromic unicoronal and sagittal craniosynostosis | -| GARD:22470 | Non-syndromic unicoronal craniosynostosis | -| GARD:22472 | Non-syndromic unifrontosphenoidal craniosynostosis | -| GARD:22471 | Non-syndromic unilambdoid craniosynostosis | -| GARD:22473 | Non-syndromic unisquamosal craniosynostosis | -| GARD:22469 | Non-syndromic unisutural craniosynostosis | -| GARD:20063 | Non-syndromic urogenital tract malformation | -| GARD:20251 | Non-syndromic urogenital tract malformation of female | -| GARD:20252 | Non-syndromic urogenital tract malformation of male | -| GARD:20253 | Non-syndromic urogenital tract malformation of male and female | -| GARD:20171 | Non-syndromic uterovaginal malformation | -| GARD:19861 | Non-syndromic visceral malformation | -| GARD:10955 | Noonan syndrome | -| GARD:7223 | Noonan syndrome 1 | -| GARD:16139 | Noonan syndrome 10 | -| GARD:16357 | Noonan syndrome 11 | -| GARD:16369 | Noonan syndrome 12 | -| GARD:16419 | Noonan syndrome 13 | -| GARD:10698 | Noonan syndrome 2 | -| GARD:9885 | Noonan syndrome 3 | -| GARD:10699 | Noonan syndrome 4 | -| GARD:10700 | Noonan syndrome 5 | -| GARD:10701 | Noonan syndrome 6 | -| GARD:15693 | Noonan syndrome 7 | -| GARD:15949 | Noonan syndrome 8 | -| GARD:16137 | Noonan syndrome 9 | -| GARD:19561 | Noonan syndrome and Noonan-related syndrome | -| GARD:1100 | Noonan syndrome with multiple lentigines | -| GARD:17577 | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | -| GARD:10719 | Noonan syndrome-like disorder with loose anagen hair | -| GARD:16533 | Normosmic congenital hypogonadotropic hypogonadism | -| GARD:7224 | Norrie disease | -| GARD:9179 | North Carolina macular dystrophy | -| GARD:20000 | Nose and cavum anomaly | -| GARD:21393 | Null pituitary adenoma | -| GARD:17292 | Null syndrome | -| GARD:19718 | O'Sullivan-McLeod syndrome | -| GARD:4129 | OSLAM syndrome | -| GARD:17631 | Obesity due to CEP19 deficiency | -| GARD:21580 | Obesity due to SIM1 deficiency | -| GARD:13015 | Obesity due to congenital leptin deficiency | -| GARD:20169 | Obesity due to congenital leptin resistance | -| GARD:17083 | Obesity due to leptin receptor gene deficiency | -| GARD:16690 | Obesity due to melanocortin 4 receptor deficiency | -| GARD:10823 | Obesity due to pro-opiomelanocortin deficiency | -| GARD:16689 | Obesity due to prohormone convertase I deficiency | -| GARD:19092 | Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome | -| GARD:19967 | Oblique facial cleft | -| GARD:20969 | Occipital encephalocele | -| GARD:4017 | Occipital horn syndrome | -| GARD:17299 | Occipital pachygyria and polymicrogyria | -| GARD:17200 | Occult macular dystrophy | -| GARD:19704 | Occupational allergic alveolitis | -| GARD:104 | Ochoa syndrome | -| GARD:21124 | Ocular albinism | -| GARD:592 | Ocular albinism with late-onset sensorineural deafness | -| GARD:17915 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | -| GARD:8759 | Ocular cicatricial pemphigoid | -| GARD:9756 | Ocular cystinosis | -| GARD:16 | Ocular motor apraxia, Cogan type | -| GARD:12074 | Oculo-auriculo-vertebral spectrum | -| GARD:16606 | Oculo-palato-cerebral syndrome | -| GARD:16988 | Oculoauricular syndrome, Schorderet type | -| GARD:4031 | Oculoauriculofrontonasal syndrome | -| GARD:3653 | Oculoauriculovertebral spectrum with radial defects | -| GARD:105 | Oculocerebral hypopigmentation syndrome, Cross type | -| GARD:4034 | Oculocerebral hypopigmentation syndrome, Preus type | -| GARD:106 | Oculocerebrocutaneous syndrome | -| GARD:17993 | Oculocerebrodental syndrome | -| GARD:3084 | Oculocerebrofacial syndrome, Kaufman type | -| GARD:3295 | Oculocerebrorenal syndrome of Lowe | -| GARD:10958 | Oculocutaneous albinism | -| GARD:4037 | Oculocutaneous albinism type 1 | -| GARD:16721 | Oculocutaneous albinism type 1A | -| GARD:594 | Oculocutaneous albinism type 1B | -| GARD:4038 | Oculocutaneous albinism type 2 | -| GARD:4039 | Oculocutaneous albinism type 3 | -| GARD:16722 | Oculocutaneous albinism type 4 | -| GARD:17598 | Oculocutaneous albinism type 5 | -| GARD:17599 | Oculocutaneous albinism type 6 | -| GARD:17531 | Oculocutaneous albinism type 7 | -| GARD:18017 | Oculocutaneous albinism type 8 | -| GARD:19548 | Oculocutaneous or ocular albinism | -| GARD:212 | Oculodental syndrome, Rutherfurd type | -| GARD:7239 | Oculodentodigital dysplasia | -| GARD:15213 | Oculodentodigital dysplasia, autosomal recessive | -| GARD:4628 | Oculofaciocardiodental syndrome | -| GARD:5496 | Oculogastrointestinal muscular dystrophy | -| GARD:18024 | Oculogastrointestinal-neurodevelopmental syndrome | -| GARD:4046 | Oculomaxillofacial dysostosis | -| GARD:19547 | Oculomotor apraxia | -| GARD:992 | Oculoosteocutaneous syndrome | -| GARD:16910 | Oculootodental syndrome | -| GARD:7245 | Oculopharyngeal muscular dystrophy | -| GARD:12592 | Oculopharyngodistal myopathy | -| GARD:15097 | Oculopharyngodistal myopathy 1 | -| GARD:16397 | Oculopharyngodistal myopathy 2 | -| GARD:3395 | Oculotrichoanal syndrome | -| GARD:16607 | Oculotrichodysplasia | -| GARD:4051 | Odonto-onycho dysplasia-alopecia syndrome | -| GARD:4054 | Odonto-onycho-dermal dysplasia | -| GARD:16679 | Odonto-tricho-ungual-digito-palmar syndrome | -| GARD:8717 | Odontochondrodysplasia | -| GARD:17194 | Odontohypophosphatasia | -| GARD:9632 | Odontoleukodystrophy | -| GARD:238 | Odontomatosis-aortae esophagus stenosis syndrome | -| GARD:4053 | Odontomicronychial dysplasia | -| GARD:2381 | Odontotrichomelic syndrome | -| GARD:21627 | Off-periods in Parkinson disease not responding to oral treatment | -| GARD:17281 | Ogden syndrome | -| GARD:10118 | Oguchi disease | -| GARD:15660 | Oguchi disease 2 | -| GARD:4064 | Okamoto syndrome | -| GARD:9182 | Okihiro syndrome | -| GARD:20787 | Okihiro syndrome due to 20q13 microdeletion | -| GARD:20788 | Okihiro syndrome due to a point mutation | -| GARD:15008 | Okur-Chung neurodevelopmental syndrome (OCNDS) | -| GARD:4261 | Oligoarticular juvenile idiopathic arthritis | -| GARD:20712 | Oligoastrocytic tumor | -| GARD:9769 | Oligoastrocytoma | -| GARD:18925 | Oligocone trichromacy | -| GARD:13156 | Oligodendroglial tumor | -| GARD:9953 | Oligodendroglioma | -| GARD:16908 | Oligodontia | -| GARD:17376 | Oligodontia-cancer predisposition syndrome | -| GARD:4066 | Oligomeganephronia | -| GARD:18977 | Oligosaccharidosis | -| GARD:4069 | Oliver syndrome | -| GARD:4070 | Olivopontocerebellar atrophy-deafness syndrome | -| GARD:7251 | Ollier disease | -| GARD:15818 | Olmsted syndrome 1 | -| GARD:16437 | Olmsted syndrome 2 | -| GARD:15273 | Olmsted syndrome, x-linked | -| GARD:8198 | Omenn syndrome | -| GARD:16608 | Omodysplasia | -| GARD:16540 | Omphalocele | -| GARD:9850 | Omphalocele syndrome, Shprintzen-Goldberg type | -| GARD:18586 | Omphalocele, autosomal | -| GARD:18587 | Omphalocele, x-linked | -| GARD:10354 | Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome | -| GARD:4081 | Omphalomesenteric cyst | -| GARD:8254 | Omsk hemorrhagic fever | -| GARD:7252 | Onchocerciasis | -| GARD:9652 | Oncogenic osteomalacia | -| GARD:11007 | Onychocytic matricoma | -| GARD:21234 | Onychomatricoma | -| GARD:18500 | Oocyte maturation defect 10 | -| GARD:18496 | Oocyte maturation defect 2 | -| GARD:18497 | Oocyte maturation defect 4 | -| GARD:18498 | Oocyte maturation defect 8 | -| GARD:18499 | Oocyte maturation defect 9 | -| GARD:20949 | Open iniencephaly | -| GARD:4365 | Ophthalmomandibulomelic dysplasia | -| GARD:3236 | Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome | -| GARD:193 | Opitz GBBB syndrome | -| GARD:4098 | Opsismodysplasia | -| GARD:10009 | Opsoclonus-myoclonus syndrome | -| GARD:15099 | Optic atrophy 1 | -| GARD:18200 | Optic atrophy 10 with or without ataxia, mental retardation, and seizures | -| GARD:18201 | Optic atrophy 11 | -| GARD:16399 | Optic atrophy 12 | -| GARD:15379 | Optic atrophy 4 | -| GARD:10201 | Optic atrophy 5 | -| GARD:10200 | Optic atrophy 6 | -| GARD:16148 | Optic atrophy 8 | -| GARD:18199 | Optic atrophy 9 | -| GARD:15098 | Optic atrophy with demyelinating disease of cns | -| GARD:15057 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | -| GARD:402 | Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant | -| GARD:22231 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | -| GARD:12903 | Optic atrophy-intellectual disability syndrome | -| GARD:22130 | Optic disc pit | -| GARD:4107 | Optic pathway glioma | -| GARD:18800 | Oral erosive lichen | -| GARD:7264 | Oral submucous fibrosis | -| GARD:22069 | Oral-facial-digital syndrome with short stature and brachymesophalangy | -| GARD:18845 | Orbital leiomyoma | -| GARD:9433 | Organic aciduria | -| GARD:20079 | Orgasm-induced seizures | -| GARD:8391 | Ornithine transcarbamylase deficiency | -| GARD:18306 | Orofacial cleft 10 | -| GARD:18303 | Orofacial cleft 11 | -| GARD:18307 | Orofacial cleft 15 | -| GARD:18305 | Orofacial cleft 5 | -| GARD:18304 | Orofacial cleft 6, susceptibility to | -| GARD:18308 | Orofacial cleft 8 | -| GARD:19908 | Orofacial clefting syndrome | -| GARD:10692 | Orofaciodigital syndrome | -| GARD:4121 | Orofaciodigital syndrome type 1 | -| GARD:4061 | Orofaciodigital syndrome type 10 | -| GARD:4118 | Orofaciodigital syndrome type 11 | -| GARD:10693 | Orofaciodigital syndrome type 12 | -| GARD:10694 | Orofaciodigital syndrome type 13 | -| GARD:13655 | Orofaciodigital syndrome type 14 | -| GARD:3701 | Orofaciodigital syndrome type 2 | -| GARD:10518 | Orofaciodigital syndrome type 3 | -| GARD:816 | Orofaciodigital syndrome type 4 | -| GARD:4120 | Orofaciodigital syndrome type 5 | -| GARD:4412 | Orofaciodigital syndrome type 6 | -| GARD:4060 | Orofaciodigital syndrome type 8 | -| GARD:10520 | Orofaciodigital syndrome type 9 | -| GARD:16197 | Orofaciodigital syndrome xv | -| GARD:19243 | Oromandibular dystonia | -| GARD:19996 | Oromandibular-limb anomalies syndrome | -| GARD:4116 | Oromandibular-limb hypogenesis syndrome | -| GARD:18861 | Oroya fever | -| GARD:19364 | Osgood-Schlatter disease | -| GARD:18921 | Ossification anomalies-psychomotor developmental delay syndrome | -| GARD:18854 | Osteoblastoma | -| GARD:12703 | Osteochondritis dissecans | -| GARD:18776 | Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome | -| GARD:12704 | Osteochondrosis | -| GARD:21669 | Osteochondrosis of genetic origin | -| GARD:2380 | Osteochondrosis of the metatarsal bone | -| GARD:6842 | Osteochondrosis of the tarsal bone | -| GARD:21782 | Osteoclastic giant cell tumor of pancreas | -| GARD:3396 | Osteocraniostenosis | -| GARD:10887 | Osteofibrous dysplasia | -| GARD:1017 | Osteogenesis imperfecta | -| GARD:8694 | Osteogenesis imperfecta type 1 | -| GARD:10142 | Osteogenesis imperfecta type 2 | -| GARD:8695 | Osteogenesis imperfecta type 3 | -| GARD:8696 | Osteogenesis imperfecta type 4 | -| GARD:8699 | Osteogenesis imperfecta type 5 | -| GARD:15100 | Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures | -| GARD:10619 | Osteogenesis imperfecta, type ix | -| GARD:8700 | Osteogenesis imperfecta, type vi | -| GARD:8701 | Osteogenesis imperfecta, type vii | -| GARD:10152 | Osteogenesis imperfecta, type viii | -| GARD:12874 | Osteogenesis imperfecta, type x | -| GARD:12875 | Osteogenesis imperfecta, type xi | -| GARD:15722 | Osteogenesis imperfecta, type xii | -| GARD:15856 | Osteogenesis imperfecta, type xiii | -| GARD:15901 | Osteogenesis imperfecta, type xiv | -| GARD:15919 | Osteogenesis imperfecta, type xv | -| GARD:16072 | Osteogenesis imperfecta, type xvi | -| GARD:16126 | Osteogenesis imperfecta, type xvii | -| GARD:587 | Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome | -| GARD:4142 | Osteoglosphonic dysplasia | -| GARD:391 | Osteomesopyknosis | -| GARD:21657 | Osteonecrosis | -| GARD:21667 | Osteonecrosis of genetic origin | -| GARD:21663 | Osteonecrosis of the jaw | -| GARD:4148 | Osteopathia striata-cranial sclerosis syndrome | -| GARD:5562 | Osteopathia striata-pigmentary dermopathy-white forelock syndrome | -| GARD:354 | Osteopenia-intellectual disability-sparse hair syndrome | -| GARD:4155 | Osteopetrosis and related disorders | -| GARD:4154 | Osteopetrosis with renal tubular acidosis | -| GARD:5993 | Osteopetrosis, autosomal recessive 4 | -| GARD:2579 | Osteopetrosis, autosomal recessive 1 | -| GARD:4157 | Osteopetrosis, autosomal recessive 2 | -| GARD:4153 | Osteopetrosis, autosomal recessive 5 | -| GARD:15905 | Osteopetrosis, autosomal recessive 8 | -| GARD:10106 | Osteopetrosis-hypogammaglobulinemia syndrome | -| GARD:15218 | Osteoporosis, juvenile | -| GARD:18778 | Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome | -| GARD:404 | Osteoporosis-oculocutaneous hypopigmentation syndrome | -| GARD:4160 | Osteoporosis-pseudoglioma syndrome | -| GARD:22138 | Osteoradionecrosis of the mandible | -| GARD:7284 | Osteosarcoma | -| GARD:20147 | Osteosclerosis-developmental delay-craniosynostosis syndrome | -| GARD:9904 | Osteosclerosis-ichthyosis-premature ovarian failure syndrome | -| GARD:17931 | Osteosclerotic metaphyseal dysplasia | -| GARD:19119 | Other acquired skin disease | -| GARD:19010 | Other dermis disorder | -| GARD:18990 | Other epidermal disorder | -| GARD:21970 | Other genetic dermis disorder | -| GARD:18991 | Other genetic epidermal disease | -| GARD:21514 | Other immunodeficiency syndrome with predominantly antibody defects | -| GARD:21509 | Other immunodeficiency syndromes due to defects in innate immunity | -| GARD:19152 | Other metabolic disease | -| GARD:20559 | Other metabolic disease with epilepsy | -| GARD:18978 | Other metabolic disease with skin involvement | -| GARD:20217 | Other rare diabetes mellitus | -| GARD:21001 | Other syndrome with a central nervous system malformation as a major feature | -| GARD:19820 | Other syndrome with lissencephaly as a major feature | -| GARD:4168 | Otodental syndrome | -| GARD:4169 | Otofaciocervical syndrome | -| GARD:16502 | Otofaciocervical syndrome 1 | -| GARD:16503 | Otofaciocervical syndrome 2, with t-cell deficiency | -| GARD:19979 | Otomandibular dysplasia | -| GARD:19994 | Otomandibular dysplasia associated with monogenic syndromes | -| GARD:4170 | Otoonychoperoneal syndrome | -| GARD:21570 | Otopalatodigital syndrome spectrum disorder | -| GARD:5121 | Otopalatodigital syndrome type 1 | -| GARD:5802 | Otopalatodigital syndrome type 2 | -| GARD:4130 | Otospondylomegaepiphyseal dysplasia | -| GARD:7295 | Ovarian cancer | -| GARD:18039 | Ovarian dysgenesis 1 | -| GARD:18040 | Ovarian dysgenesis 2 | -| GARD:18041 | Ovarian dysgenesis 3 | -| GARD:18042 | Ovarian dysgenesis 6 | -| GARD:18043 | Ovarian dysgenesis 7 | -| GARD:21375 | Ovarian fibroma | -| GARD:21376 | Ovarian fibrothecoma | -| GARD:16668 | Ovarian hyperstimulation syndrome | -| GARD:16918 | Ovarioleukodystrophy | -| GARD:22021 | Overgrowth or tall stature syndrome with skeletal involvement | -| GARD:19213 | Overgrowth syndrome | -| GARD:22032 | Overgrowth syndrome with 2q37 translocation | -| GARD:18646 | Overgrowth-macrocephaly-facial dysmorphism syndrome | -| GARD:10066 | Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome | -| GARD:19903 | Overgrowth/obesity syndrome | -| GARD:4183 | Overhydrated hereditary stomatocytosis | -| GARD:20352 | Overlap myositis | -| GARD:20696 | Overlapping connective tissue disease | -| GARD:617 | Oxoglutaric aciduria | -| GARD:15005 | PACAK-ZHUANG syndrome | -| GARD:3086 | PAGOD syndrome | -| GARD:7312 | PANDAS | -| GARD:4223 | PARC syndrome | -| GARD:17736 | PCNA-related progressive neurodegenerative photosensitivity syndrome | -| GARD:17742 | PDE4D haploinsufficiency syndrome | -| GARD:4264 | PEHO syndrome | -| GARD:16911 | PEHO-like syndrome | -| GARD:13447 | PENS syndrome | -| GARD:5657 | PFAPA syndrome | -| GARD:4329 | PGM1-CDG | -| GARD:4331 | PGM3-CDG | -| GARD:8338 | PHACE syndrome | -| GARD:4465 | PHAVER syndrome | -| GARD:22367 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | -| GARD:22301 | PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis | -| GARD:22209 | PIK3CA-related overgrowth syndrome | -| GARD:12567 | PLA2G6-associated neurodegeneration | -| GARD:17960 | PLAA-associated neurodevelopmental disorder | -| GARD:17369 | PLCG2-associated antibody deficiency and immune dysregulation | -| GARD:2148 | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement | -| GARD:22217 | PLG-related hereditary angioedema with normal C1Inh | -| GARD:12601 | PLIN1-related familial partial lipodystrophy | -| GARD:9826 | PMM2-CDG | -| GARD:17851 | PMP2-related Charcot-Marie-Tooth disease type 1 | -| GARD:17859 | PMP22-RAI1 contiguous gene duplication syndrome | -| GARD:7411 | POEMS syndrome | -| GARD:17869 | POGLUT1-related limb-girdle muscular dystrophy R21 | -| GARD:12540 | POMGNT1-related limb-girdle muscular dystrophy R15 | -| GARD:22271 | POMGNT2-related limb-girdle muscular dystrophy R24 | -| GARD:12535 | POMT1-related limb-girdle muscular dystrophy R11 | -| GARD:12539 | POMT2-related limb-girdle muscular dystrophy R14 | -| GARD:12600 | PPARG-related familial partial lipodystrophy | -| GARD:19358 | PPoma | -| GARD:21738 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | -| GARD:17985 | PRUNE1-related neurological syndrome | -| GARD:12800 | PTEN hamartoma tumor syndrome | -| GARD:22351 | PUM1-associated developmental disability-ataxia-seizure syndrome | -| GARD:17739 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | -| GARD:17740 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | -| GARD:17340 | PYCR1-related De Barsy syndrome | -| GARD:17873 | PYCR2-related microcephaly-progressive leukoencephalopathy | -| GARD:7299 | Pachydermoperiostosis | -| GARD:409 | Pachygyria-intellectual disability-epilepsy syndrome | -| GARD:10753 | Pachyonychia congenita | -| GARD:15102 | Pachyonychia congenita 1 | -| GARD:15103 | Pachyonychia congenita 2 | -| GARD:16005 | Pachyonychia congenita 3 | -| GARD:16006 | Pachyonychia congenita 4 | -| GARD:15219 | Pachyonychia congenita, autosomal recessive | -| GARD:7303 | Paget disease of the nipple | -| GARD:3439 | Pai syndrome | -| GARD:12706 | Painful legs and moving toes syndrome | -| GARD:11006 | Painful orbital and systemic neurofibromas-marfanoid habitus syndrome | -| GARD:17862 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | -| GARD:7305 | Pallister-Hall syndrome | -| GARD:9172 | Palmoplantar keratoderma i, striate, focal, or diffuse | -| GARD:16967 | Palmoplantar keratoderma, Nagashima type | -| GARD:18487 | Palmoplantar keratoderma, nonepidermolytic, focal 1 | -| GARD:18488 | Palmoplantar keratoderma, nonepidermolytic, focal 2 | -| GARD:15081 | Palmoplantar keratoderma, punctate type ia | -| GARD:15884 | Palmoplantar keratoderma, punctate type ib | -| GARD:16733 | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | -| GARD:3094 | Palmoplantar keratoderma-deafness syndrome | -| GARD:3102 | Palmoplantar keratoderma-esophageal carcinoma syndrome | -| GARD:17977 | Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome | -| GARD:3095 | Palmoplantar keratoderma-spastic paralysis syndrome | -| GARD:15104 | Pancreas, dorsal, agenesis of | -| GARD:15220 | Pancreatic agenesis 1 | -| GARD:16033 | Pancreatic agenesis 2 | -| GARD:17992 | Pancreatic agenesis-holoprosencephaly syndrome | -| GARD:15401 | Pancreatic cancer, susceptibility to, 1 | -| GARD:15650 | Pancreatic cancer, susceptibility to, 2 | -| GARD:15651 | Pancreatic cancer, susceptibility to, 3 | -| GARD:15788 | Pancreatic cancer, susceptibility to, 4 | -| GARD:17402 | Pancreatic colipase deficiency | -| GARD:347 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | -| GARD:17095 | Pancreatic insufficiency-anemia-hyperostosis syndrome | -| GARD:17401 | Pancreatic triacylglycerol lipase deficiency | -| GARD:4210 | Pancreatoblastoma | -| GARD:17442 | Pancytopenia due to IKZF1 mutations | -| GARD:17655 | Pancytopenia-developmental delay syndrome | -| GARD:19285 | Panhypophysitis | -| GARD:6737 | Panhypopituitarism, x-linked | -| GARD:19365 | Panner disease | -| GARD:19128 | Panniculitis-induced localized lipodystrophy | -| GARD:6564 | Pantothenate kinase-associated neurodegeneration | -| GARD:8577 | Panuveitis | -| GARD:20497 | Papillary carcinoma of the cervix uteri | -| GARD:20730 | Papillary glioneuronal tumor | -| GARD:9572 | Papillary renal cell carcinoma | -| GARD:15358 | Papillary thyroid microcarcinoma | -| GARD:20725 | Papillary tumor of the pineal region | -| GARD:4214 | Papilloma of choroid plexus | -| GARD:3100 | Papillon-Lefèvre syndrome | -| GARD:20583 | Papular elastorrhexis | -| GARD:19139 | Papular mucinosis of infancy | -| GARD:20021 | Papular xanthoma | -| GARD:21931 | Paracetamol poisoning | -| GARD:19624 | Parachute tricuspid valve | -| GARD:7323 | Paracoccidioidomycosis | -| GARD:7324 | Paragangliomas 1 | -| GARD:10544 | Paragangliomas 2 | -| GARD:10545 | Paragangliomas 3 | -| GARD:10546 | Paragangliomas 4 | -| GARD:15763 | Paragangliomas 5 | -| GARD:16354 | Paragangliomas 6 | -| GARD:16356 | Paragangliomas 7 | -| GARD:10359 | Paralysis agitans, juvenile, of hunt | -| GARD:19997 | Paralytic facial malformation | -| GARD:19975 | Paramedian facial cleft | -| GARD:16973 | Paramedian nasal cleft | -| GARD:7325 | Paramyotonia congenita of Von Eulenburg | -| GARD:2598 | Parana hard skin syndrome | -| GARD:22493 | Paraneoplastic cerebellar degeneration | -| GARD:22499 | Paraneoplastic isolated brainstem encephalitis | -| GARD:7326 | Paraneoplastic neurologic syndrome | -| GARD:18858 | Paraneoplastic pemphigus | -| GARD:20414 | Paraneoplastic sensory ganglionopathy | -| GARD:21069 | Paraneoplastic uveitis | -| GARD:20615 | Paraparetic variant of Guillain-Barré syndrome | -| GARD:2344 | Paraplegia-intellectual disability-hyperkeratosis syndrome | -| GARD:18806 | Paraquat poisoning | -| GARD:20379 | Parasitic myositis | -| GARD:4222 | Parastremmatic dwarfism | -| GARD:21550 | Paratesticular adenocarcinoma | -| GARD:7329 | Parathyroid carcinoma | -| GARD:21855 | Paratyphoid fever | -| GARD:22295 | Parenteral nutrition-associated cholestasis | -| GARD:20970 | Parietal encephalocele | -| GARD:18051 | Parietal foramina 1 | -| GARD:18053 | Parietal foramina 2 | -| GARD:18052 | Parietal foramina 3 | -| GARD:17207 | Parietal foramina with clavicular hypoplasia | -| GARD:4224 | Paris-Trousseau thrombocytopenia | -| GARD:9787 | Parkes Weber syndrome | -| GARD:18474 | Parkinson disease 1, autosomal dominant | -| GARD:18607 | Parkinson disease 10 | -| GARD:18477 | Parkinson disease 11, autosomal dominant, susceptibility to | -| GARD:18604 | Parkinson disease 12 | -| GARD:18608 | Parkinson disease 13, autosomal dominant, susceptibility to | -| GARD:18478 | Parkinson disease 17 | -| GARD:18479 | Parkinson disease 18, autosomal dominant, susceptibility to | -| GARD:18461 | Parkinson disease 19a, juvenile-onset | -| GARD:9642 | Parkinson disease 2, autosomal recessive juvenile | -| GARD:18462 | Parkinson disease 20, early-onset | -| GARD:18480 | Parkinson disease 21 | -| GARD:18610 | Parkinson disease 23, autosomal recessive early-onset | -| GARD:8578 | Parkinson disease 3, autosomal dominant | -| GARD:18475 | Parkinson disease 4, autosomal dominant | -| GARD:18609 | Parkinson disease 5, autosomal dominant, susceptibility to | -| GARD:18605 | Parkinson disease 6, autosomal recessive early-onset | -| GARD:18606 | Parkinson disease 7, autosomal recessive early-onset | -| GARD:18476 | Parkinson disease 8, autosomal dominant | -| GARD:9239 | Parkinson-dementia complex of Guam | -| GARD:9175 | Parkinsonian-pyramidal syndrome | -| GARD:18028 | Parkinsonism with polyneuropathy | -| GARD:7335 | Paroxysmal cold hemoglobinuria | -| GARD:18721 | Paroxysmal dyskinesia | -| GARD:20340 | Paroxysmal dystonia | -| GARD:16656 | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | -| GARD:10541 | Paroxysmal exertion-induced dyskinesia | -| GARD:12854 | Paroxysmal extreme pain disorder | -| GARD:10794 | Paroxysmal hemicrania | -| GARD:8721 | Paroxysmal kinesigenic dyskinesia | -| GARD:7337 | Paroxysmal nocturnal hemoglobinuria | -| GARD:15958 | Paroxysmal nocturnal hemoglobinuria 2 | -| GARD:8722 | Paroxysmal non-kinesigenic dyskinesia | -| GARD:15510 | Paroxysmal nonkinesigenic dyskinesia 2 | -| GARD:5692 | Partial androgen insensitivity syndrome | -| GARD:4229 | Partial atrioventricular septal defect | -| GARD:22323 | Partial atrioventricular septal defect with ventricular hypoplasia | -| GARD:22324 | Partial atrioventricular septal defect without ventricular hypoplasia | -| GARD:19422 | Partial autosomal monosomy | -| GARD:19420 | Partial autosomal trisomy/tetrasomy | -| GARD:20172 | Partial bilateral aplasia of the Müllerian ducts | -| GARD:16574 | Partial chromosome Y deletion | -| GARD:21707 | Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome | -| GARD:19607 | Partial cryptophthalmia | -| GARD:19118 | Partial deep dermal and full thickness burns | -| GARD:20789 | Partial deletion of chromosome 1 | -| GARD:20798 | Partial deletion of chromosome 10 | -| GARD:20799 | Partial deletion of chromosome 11 | -| GARD:21115 | Partial deletion of chromosome 12 | -| GARD:20801 | Partial deletion of chromosome 16 | -| GARD:20802 | Partial deletion of chromosome 17 | -| GARD:20803 | Partial deletion of chromosome 18 | -| GARD:20804 | Partial deletion of chromosome 19 | -| GARD:20790 | Partial deletion of chromosome 2 | -| GARD:20805 | Partial deletion of chromosome 20 | -| GARD:20791 | Partial deletion of chromosome 3 | -| GARD:20792 | Partial deletion of chromosome 4 | -| GARD:20793 | Partial deletion of chromosome 5 | -| GARD:20794 | Partial deletion of chromosome 6 | -| GARD:20795 | Partial deletion of chromosome 7 | -| GARD:20796 | Partial deletion of chromosome 8 | -| GARD:20797 | Partial deletion of chromosome 9 | -| GARD:20911 | Partial deletion of chromosome X | -| GARD:20821 | Partial deletion of the long arm of chromosome 1 | -| GARD:20831 | Partial deletion of the long arm of chromosome 11 | -| GARD:20800 | Partial deletion of the long arm of chromosome 12 | -| GARD:20832 | Partial deletion of the long arm of chromosome 13 | -| GARD:20833 | Partial deletion of the long arm of chromosome 14 | -| GARD:20834 | Partial deletion of the long arm of chromosome 15 | -| GARD:20835 | Partial deletion of the long arm of chromosome 16 | -| GARD:20836 | Partial deletion of the long arm of chromosome 17 | -| GARD:20837 | Partial deletion of the long arm of chromosome 18 | -| GARD:20838 | Partial deletion of the long arm of chromosome 19 | -| GARD:20822 | Partial deletion of the long arm of chromosome 2 | -| GARD:20839 | Partial deletion of the long arm of chromosome 20 | -| GARD:20840 | Partial deletion of the long arm of chromosome 21 | -| GARD:20841 | Partial deletion of the long arm of chromosome 22 | -| GARD:20823 | Partial deletion of the long arm of chromosome 3 | -| GARD:20824 | Partial deletion of the long arm of chromosome 4 | -| GARD:20825 | Partial deletion of the long arm of chromosome 5 | -| GARD:20826 | Partial deletion of the long arm of chromosome 6 | -| GARD:20827 | Partial deletion of the long arm of chromosome 7 | -| GARD:20828 | Partial deletion of the long arm of chromosome 8 | -| GARD:20915 | Partial deletion of the long arm of chromosome X | -| GARD:20806 | Partial deletion of the short arm of chromosome 1 | -| GARD:20814 | Partial deletion of the short arm of chromosome 10 | -| GARD:20815 | Partial deletion of the short arm of chromosome 11 | -| GARD:21404 | Partial deletion of the short arm of chromosome 12 | -| GARD:20816 | Partial deletion of the short arm of chromosome 16 | -| GARD:20818 | Partial deletion of the short arm of chromosome 18 | -| GARD:20819 | Partial deletion of the short arm of chromosome 19 | -| GARD:20807 | Partial deletion of the short arm of chromosome 2 | -| GARD:37 | Partial deletion of the short arm of chromosome 3 | -| GARD:20808 | Partial deletion of the short arm of chromosome 4 | -| GARD:20809 | Partial deletion of the short arm of chromosome 5 | -| GARD:20810 | Partial deletion of the short arm of chromosome 6 | -| GARD:20811 | Partial deletion of the short arm of chromosome 7 | -| GARD:20812 | Partial deletion of the short arm of chromosome 8 | -| GARD:20813 | Partial deletion of the short arm of chromosome 9 | -| GARD:20842 | Partial duplication of chromosome 1 | -| GARD:20851 | Partial duplication of chromosome 10 | -| GARD:20852 | Partial duplication of chromosome 11 | -| GARD:20854 | Partial duplication of chromosome 16 | -| GARD:20855 | Partial duplication of chromosome 17 | -| GARD:20857 | Partial duplication of chromosome 19 | -| GARD:20843 | Partial duplication of chromosome 2 | -| GARD:20844 | Partial duplication of chromosome 3 | -| GARD:20845 | Partial duplication of chromosome 4 | -| GARD:20847 | Partial duplication of chromosome 6 | -| GARD:20848 | Partial duplication of chromosome 7 | -| GARD:20849 | Partial duplication of chromosome 8 | -| GARD:20916 | Partial duplication of chromosome X | -| GARD:20872 | Partial duplication of the long arm of chromosome 1 | -| GARD:20881 | Partial duplication of the long arm of chromosome 10 | -| GARD:20882 | Partial duplication of the long arm of chromosome 11 | -| GARD:20883 | Partial duplication of the long arm of chromosome 13 | -| GARD:20884 | Partial duplication of the long arm of chromosome 14 | -| GARD:20885 | Partial duplication of the long arm of chromosome 15 | -| GARD:20887 | Partial duplication of the long arm of chromosome 17 | -| GARD:20889 | Partial duplication of the long arm of chromosome 19 | -| GARD:20873 | Partial duplication of the long arm of chromosome 2 | -| GARD:20891 | Partial duplication of the long arm of chromosome 22 | -| GARD:20874 | Partial duplication of the long arm of chromosome 3 | -| GARD:20875 | Partial duplication of the long arm of chromosome 4 | -| GARD:20877 | Partial duplication of the long arm of chromosome 6 | -| GARD:20878 | Partial duplication of the long arm of chromosome 7 | -| GARD:20879 | Partial duplication of the long arm of chromosome 8 | -| GARD:20917 | Partial duplication of the long arm of chromosome X | -| GARD:20919 | Partial duplication of the short arm of chromosome 1 | -| GARD:20867 | Partial duplication of the short arm of chromosome 10 | -| GARD:20868 | Partial duplication of the short arm of chromosome 11 | -| GARD:20869 | Partial duplication of the short arm of chromosome 16 | -| GARD:20870 | Partial duplication of the short arm of chromosome 17 | -| GARD:21876 | Partial duplication of the short arm of chromosome 19 | -| GARD:20859 | Partial duplication of the short arm of chromosome 2 | -| GARD:20860 | Partial duplication of the short arm of chromosome 3 | -| GARD:20861 | Partial duplication of the short arm of chromosome 4 | -| GARD:20863 | Partial duplication of the short arm of chromosome 6 | -| GARD:20864 | Partial duplication of the short arm of chromosome 7 | -| GARD:20865 | Partial duplication of the short arm of chromosome 8 | -| GARD:12421 | Partial duplication of the short arm of chromosome X | -| GARD:20749 | Partial hydatidiform mole | -| GARD:20830 | Partial monosomy of the long arm of chromosome 10 | -| GARD:20829 | Partial monosomy of the long arm of chromosome 9 | -| GARD:20817 | Partial monosomy of the short arm of chromosome 17 | -| GARD:20820 | Partial monosomy of the short arm of chromosome 20 | -| GARD:20912 | Partial monosomy of the short arm of chromosome X | -| GARD:4203 | Partial pancreatic agenesis | -| GARD:20182 | Partial septate uterus | -| GARD:20858 | Partial trisomy of chromosome 20 | -| GARD:20886 | Partial trisomy of the long arm of chromosome 16 | -| GARD:20888 | Partial trisomy of the long arm of chromosome 18 | -| GARD:20890 | Partial trisomy of the long arm of chromosome 20 | -| GARD:20876 | Partial trisomy of the long arm of chromosome 5 | -| GARD:20880 | Partial trisomy of the long arm of chromosome 9 | -| GARD:20856 | Partial trisomy/tetrasomy of chromosome 18 | -| GARD:20846 | Partial trisomy/tetrasomy of chromosome 5 | -| GARD:20850 | Partial trisomy/tetrasomy of chromosome 9 | -| GARD:20853 | Partial trisomy/tetrasomy of the short arm of chromosome 12 | -| GARD:20871 | Partial trisomy/tetrasomy of the short arm of chromosome 18 | -| GARD:20862 | Partial trisomy/tetrasomy of the short arm of chromosome 5 | -| GARD:20866 | Partial trisomy/tetrasomy of the short arm of chromosome 9 | -| GARD:21911 | Partially involuting congenital hemangioma | -| GARD:4235 | Partington syndrome | -| GARD:8709 | Patella aplasia/hypoplasia | -| GARD:19209 | Patellar dysostosis | -| GARD:7342 | Patent ductus arteriosus 1 | -| GARD:18489 | Patent ductus arteriosus 2 | -| GARD:18490 | Patent ductus arteriosus 3 | -| GARD:17148 | Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome | -| GARD:21798 | Patent urachus | -| GARD:20777 | Paternal 20q13.2q13.3 microdeletion syndrome | -| GARD:19425 | Paternal uniparental disomy | -| GARD:20688 | Paternal uniparental disomy of chromosome 1 | -| GARD:19678 | Paternal uniparental disomy of chromosome 13 | -| GARD:19343 | Paternal uniparental disomy of chromosome 20 | -| GARD:19344 | Paternal uniparental disomy of chromosome 21 | -| GARD:19339 | Paternal uniparental disomy of chromosome 5 | -| GARD:19340 | Paternal uniparental disomy of chromosome 6 | -| GARD:19341 | Paternal uniparental disomy of chromosome 7 | -| GARD:20784 | Paternal uniparental disomy of chromosome X | -| GARD:9821 | Pattern dystrophy | -| GARD:4260 | Patterson-Stevenson-Fontaine syndrome | -| GARD:19175 | Pauci-immune glomerulonephritis | -| GARD:19379 | Pauci-immune glomerulonephritis with ANCA | -| GARD:19380 | Pauci-immune glomerulonephritis without ANCA | -| GARD:7343 | Pearson syndrome | -| GARD:374 | Pectus excavatum-macrocephaly-dysplastic nails syndrome | -| GARD:21824 | Pediatric arterial ischemic stroke | -| GARD:21998 | Pediatric collagenous gastritis | -| GARD:9331 | Pediatric hepatocellular carcinoma | -| GARD:10443 | Pediatric multiple sclerosis | -| GARD:19219 | Pediatric systemic lupus erythematosus | -| GARD:22190 | Pediatric-onset Graves disease | -| GARD:22188 | Pediatric-onset glaucoma | -| GARD:2486 | Pediatric-onset glaucoma of genetic origin | -| GARD:7347 | Peeling skin syndrome | -| GARD:18426 | Peeling skin syndrome 4 | -| GARD:18427 | Peeling skin syndrome 5 | -| GARD:17258 | Peeling skin syndrome type A | -| GARD:17259 | Peeling skin syndrome type B | -| GARD:20904 | Peeling skin syndrome type C | -| GARD:17764 | Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome | -| GARD:4265 | Pelizaeus-Merzbacher disease | -| GARD:21075 | Pelizaeus-Merzbacher disease in female carriers | -| GARD:21073 | Pelizaeus-Merzbacher disease, classic form | -| GARD:17291 | Pelizaeus-Merzbacher disease, connatal form | -| GARD:21074 | Pelizaeus-Merzbacher disease, transitional form | -| GARD:12300 | Pelizaeus-Merzbacher-like disease | -| GARD:4266 | Pelizaeus-Merzbacher-like disease due to AIMP1 mutation | -| GARD:17293 | Pelizaeus-Merzbacher-like disease due to GJC2 mutation | -| GARD:17294 | Pelizaeus-Merzbacher-like disease due to HSPD1 mutation | -| GARD:10014 | Pellagra | -| GARD:11895 | Pellucid marginal degeneration | -| GARD:4269 | Pelvic dysplasia-arthrogryposis of lower limbs syndrome | -| GARD:16611 | Pelvis-shoulder dysplasia | -| GARD:1555 | Pelviscapular dysplasia | -| GARD:6497 | Pemphigoid gestationis | -| GARD:19022 | Pemphigus erythematosus | -| GARD:7354 | Pemphigus foliaceus | -| GARD:19021 | Pemphigus vegetans | -| GARD:7355 | Pemphigus vulgaris | -| GARD:4270 | Pemphigus vulgaris, familial | -| GARD:4271 | Pendred syndrome | -| GARD:4272 | Penile agenesis | -| GARD:4273 | Penoscrotal transposition | -| GARD:7359 | Pentalogy of Cantrell | -| GARD:5678 | Pentasomy X | -| GARD:418 | Pentosuria | -| GARD:18278 | Perching syndrome | -| GARD:18780 | Pericardial and diaphragmatic defect | -| GARD:17191 | Perinatal lethal hypophosphatasia | -| GARD:9258 | Perineural cyst | -| GARD:12698 | Perineurioma | -| GARD:19812 | Periodic fever syndrome | -| GARD:21458 | Periodic fever syndrome of childhood | -| GARD:17725 | Periodic fever-infantile enterocolitis-autoinflammatory syndrome | -| GARD:20374 | Periodic paralysis | -| GARD:21634 | Periodic paralysis with later-onset distal motor neuropathy | -| GARD:21635 | Periodic paralysis with transient compartment-like syndrome | -| GARD:12474 | Periodontal Ehlers-Danlos syndrome | -| GARD:19915 | Perioral myoclonia with absences | -| GARD:22128 | Peripapillary staphyloma | -| GARD:220 | Peripartum cardiomyopathy | -| GARD:17004 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | -| GARD:2015 | Peripheral dysostosis | -| GARD:3791 | Peripheral motor neuropathy-dysautonomia syndrome | -| GARD:20417 | Peripheral neuropathy associated with monoclonal gammopathy | -| GARD:17639 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | -| GARD:17601 | Peripheral primitive neuroectodermal tumor | -| GARD:4589 | Peripheral pulmonary stenosis | -| GARD:10777 | Peritoneal cystic mesothelioma | -| GARD:22383 | Perivascular epithelioid cell neoplasm | -| GARD:15424 | Periventricular heterotopia with microcephaly, autosomal recessive | -| GARD:12724 | Periventricular nodular heterotopia | -| GARD:7371 | Periventricular nodular heterotopia 1 | -| GARD:15425 | Periventricular nodular heterotopia 3 | -| GARD:15983 | Periventricular nodular heterotopia 6 | -| GARD:16210 | Periventricular nodular heterotopia 7 | -| GARD:16303 | Periventricular nodular heterotopia 8 | -| GARD:16394 | Periventricular nodular heterotopia 9 | -| GARD:19189 | Perlecan-related bone disorder | -| GARD:3936 | Perlman syndrome | -| GARD:20560 | Permanent congenital hypothyroidism | -| GARD:16670 | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | -| GARD:4543 | Peroxisomal acyl-CoA oxidase deficiency | -| GARD:12470 | Peroxisomal beta-oxidation disorder | -| GARD:18885 | Peroxisomal disease | -| GARD:20551 | Peroxisomal disease with epilepsy | -| GARD:11890 | Peroxisome biogenesis disorder | -| GARD:15873 | Peroxisome biogenesis disorder 10a (zellweger) | -| GARD:15874 | Peroxisome biogenesis disorder 11a (zellweger) | -| GARD:15875 | Peroxisome biogenesis disorder 11b | -| GARD:15876 | Peroxisome biogenesis disorder 12a (zellweger) | -| GARD:15877 | Peroxisome biogenesis disorder 13a (zellweger) | -| GARD:15881 | Peroxisome biogenesis disorder 14b | -| GARD:15149 | Peroxisome biogenesis disorder 2a (zellweger) | -| GARD:15134 | Peroxisome biogenesis disorder 2b | -| GARD:15858 | Peroxisome biogenesis disorder 3a (zellweger) | -| GARD:15226 | Peroxisome biogenesis disorder 3b | -| GARD:15859 | Peroxisome biogenesis disorder 4a (zellweger) | -| GARD:15860 | Peroxisome biogenesis disorder 4b | -| GARD:15861 | Peroxisome biogenesis disorder 5a (zellweger) | -| GARD:15862 | Peroxisome biogenesis disorder 5b | -| GARD:15864 | Peroxisome biogenesis disorder 6a (zellweger) | -| GARD:15865 | Peroxisome biogenesis disorder 6b | -| GARD:15866 | Peroxisome biogenesis disorder 7a (zellweger) | -| GARD:15867 | Peroxisome biogenesis disorder 7b | -| GARD:15869 | Peroxisome biogenesis disorder 8a (zellweger) | -| GARD:15870 | Peroxisome biogenesis disorder 8b | -| GARD:15871 | Peroxisome biogenesis disorder 9b | -| GARD:2542 | Perrault syndrome | -| GARD:15882 | Perrault syndrome 2 | -| GARD:15760 | Perrault syndrome 3 | -| GARD:15943 | Perrault syndrome 4 | -| GARD:16062 | Perrault syndrome 5 | -| GARD:16237 | Perrault syndrome 6 | -| GARD:10453 | Perry syndrome | -| GARD:8435 | Persistent Müllerian duct syndrome | -| GARD:21628 | Persistent combined dystonia | -| GARD:19661 | Persistent eustachian valve | -| GARD:19636 | Persistent fifth aortic arch | -| GARD:16803 | Persistent hyperplastic primary vitreous | -| GARD:18168 | Persistent hyperplastic primary vitreous, autosomal dominant | -| GARD:18167 | Persistent hyperplastic primary vitreous, autosomal recessive | -| GARD:21649 | Persistent idiopathic facial pain | -| GARD:19652 | Persistent left superior vena cava connecting through coronary sinus to left-sided atrium | -| GARD:19654 | Persistent left superior vena cava connecting to the roof of left-sided atrium | -| GARD:19369 | Persistent placoid maculopathy | -| GARD:17366 | Persistent polyclonal B-cell lymphocytosis | -| GARD:7377 | Peters anomaly | -| GARD:8422 | Peters plus syndrome | -| GARD:7378 | Peutz-Jeghers syndrome | -| GARD:7380 | Pfeiffer syndrome | -| GARD:16807 | Pfeiffer syndrome type 1 | -| GARD:16808 | Pfeiffer syndrome type 2 | -| GARD:16809 | Pfeiffer syndrome type 3 | -| GARD:4305 | Pfeiffer-Palm-Teller syndrome | -| GARD:20443 | Phacoanaphylactic uveitis | -| GARD:19023 | Phakomatosis cesioflammea | -| GARD:19024 | Phakomatosis cesiomarmorata | -| GARD:4311 | Phakomatosis pigmentokeratotica | -| GARD:4312 | Phakomatosis pigmentovascularis | -| GARD:19025 | Phakomatosis spilorosea | -| GARD:21524 | Phalangeal microgeodic syndrome | -| GARD:20614 | Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome | -| GARD:4315 | Phenobarbital embryopathy | -| GARD:7383 | Phenylketonuria | -| GARD:15105 | Pheochromocytoma | -| GARD:22315 | Pheochromocytoma-paraganglioma | -| GARD:9212 | Phocomelia, Schinzel type | -| GARD:4323 | Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome | -| GARD:16613 | Phosphoenolpyruvate carboxykinase deficiency | -| GARD:4278 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | -| GARD:4279 | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | -| GARD:4337 | Phosphoribosylpyrophosphate synthetase superactivity | -| GARD:13273 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | -| GARD:15065 | Photoparoxysmal response 1 | -| GARD:15463 | Photoparoxysmal response 2 | -| GARD:15464 | Photoparoxysmal response 3 | -| GARD:5648 | Photosensitive epilepsy | -| GARD:9514 | Phyllodes tumor of the breast | -| GARD:9404 | Phyllodes tumor of the prostate | -| GARD:5133 | Piebald trait-neurologic defects syndrome | -| GARD:4344 | Piebaldism | -| GARD:17885 | Pierpont syndrome | -| GARD:19896 | Pierre Robin syndrome associated with a chromosomal anomaly | -| GARD:19898 | Pierre Robin syndrome associated with bone disease | -| GARD:19897 | Pierre Robin syndrome associated with branchial archs anomalies | -| GARD:19894 | Pierre Robin syndrome associated with collagen disease | -| GARD:1274 | Pierre Robin syndrome-faciodigital anomaly syndrome | -| GARD:10090 | Pierre robin sequence with pectus excavatum and rib and scapular anomalies | -| GARD:9420 | Pierson syndrome | -| GARD:16924 | Pigeon-breeder lung disease | -| GARD:19003 | Pigmentation anomaly of the skin | -| GARD:17776 | Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome | -| GARD:18620 | Pigmented nodular adrenocortical disease, primary, 1 | -| GARD:15489 | Pigmented nodular adrenocortical disease, primary, 2 | -| GARD:15769 | Pigmented nodular adrenocortical disease, primary, 3 | -| GARD:16016 | Pigmented nodular adrenocortical disease, primary, 4 | -| GARD:17208 | Pigmented paravenous retinochoroidal atrophy | -| GARD:18703 | Pili bifurcati | -| GARD:19026 | Pili gemini | -| GARD:4361 | Pili torti | -| GARD:4362 | Pili torti-developmental delay-neurological abnormalities syndrome | -| GARD:4364 | Pili torti-onychodysplasia syndrome | -| GARD:9808 | Pilocytic astrocytoma | -| GARD:277 | Pilodental dysplasia-refractive errors syndrome | -| GARD:22042 | Pilomatrix carcinoma | -| GARD:9452 | Pilomatrixoma | -| GARD:20710 | Pilomyxoid astrocytoma | -| GARD:10644 | Pineal parenchymal tumor of intermediate differenciation | -| GARD:20724 | Pineal tumor of neuroepithelial tissue | -| GARD:9369 | Pineoblastoma | -| GARD:8207 | Pineocytoma | -| GARD:19999 | Pinnae and external auditory canal anomaly | -| GARD:19974 | Pinnae fistula or cyst | -| GARD:4372 | Pitt-Hopkins syndrome | -| GARD:20711 | Pituicytoma | -| GARD:19680 | Pituitary adenoma | -| GARD:15274 | Pituitary adenoma 2, growth hormone-secreting | -| GARD:19287 | Pituitary apoplexy | -| GARD:9371 | Pituitary carcinoma | -| GARD:19801 | Pituitary deficiency | -| GARD:19160 | Pituitary deficiency due to Rathke cleft cysts | -| GARD:19163 | Pituitary deficiency due to empty sella turcica syndrome | -| GARD:19161 | Pituitary dermoid and epidermoid cysts | -| GARD:6506 | Pituitary gigantism | -| GARD:19280 | Pituitary hormone deficiency of meningeal origin | -| GARD:19279 | Pituitary hormone deficiency of tumoral origin | -| GARD:19286 | Pituitary hormone deficiency of vascular origin | -| GARD:19288 | Pituitary hormone deficiency secondary to a granulomatous disease | -| GARD:19289 | Pituitary hormone deficiency secondary to storage disease | -| GARD:10601 | Pituitary hormone deficiency, combined 1 | -| GARD:15222 | Pituitary hormone deficiency, combined, 2 | -| GARD:16520 | Pituitary hormone deficiency, combined, 6 | -| GARD:13209 | Pituitary stalk interruption syndrome | -| GARD:21253 | Pituitary tumor | -| GARD:7401 | Pityriasis rubra pilaris | -| GARD:21823 | Placental insufficiency | -| GARD:7403 | Placental site trophoblastic tumor | -| GARD:18702 | Plague | -| GARD:20034 | Plaque-form urticaria pigmentosa | -| GARD:9373 | Plasma cell leukemia | -| GARD:19440 | Plasma cell tumor | -| GARD:12125 | Plasmablastic lymphoma | -| GARD:13446 | Plasmacytoma | -| GARD:21835 | Plastic bronchitis | -| GARD:15329 | Platelet disorder, familial, with associated myeloid malignancy | -| GARD:4382 | Platyspondylic dysplasia, Torrance type | -| GARD:12542 | Plectin-related limb-girdle muscular dystrophy R17 | -| GARD:19719 | Pleomorphic liposarcoma | -| GARD:21165 | Pleomorphic rhabdomyosarcoma | -| GARD:17789 | Pleomorphic salivary gland adenoma | -| GARD:10631 | Pleomorphic xanthoastrocytoma | -| GARD:21879 | Pleural empyema | -| GARD:7026 | Pleural mesothelioma | -| GARD:19668 | Pleuro-pericardial cyst | -| GARD:8757 | Pleuropulmonary blastoma | -| GARD:10734 | Pleuropulmonary blastoma familial tumor susceptibility syndrome | -| GARD:19715 | Pleuropulmonary blastoma type 1 | -| GARD:19716 | Pleuropulmonary blastoma type 2 | -| GARD:19717 | Pleuropulmonary blastoma type 3 | -| GARD:8259 | Plummer-Vinson syndrome | -| GARD:18849 | Pneumococcal meningitis | -| GARD:20245 | Pneumoconiosis | -| GARD:4386 | Pneumocystosis | -| GARD:13613 | Pneumonia caused by Pseudomonas aeruginosa infection | -| GARD:4085 | Poikiloderma with neutropenia | -| GARD:7412 | Poland syndrome | -| GARD:7413 | Poliomyelitis | -| GARD:7360 | Polyarteritis nodosa | -| GARD:21729 | Polyarticular juvenile idiopathic arthritis | -| GARD:21887 | Polyclonal hyperviscosity syndrome | -| GARD:18597 | Polycystic kidney disease 1 with or without polycystic liver disease | -| GARD:18599 | Polycystic kidney disease 2 with or without polycystic liver disease | -| GARD:18598 | Polycystic kidney disease 3 with or without polycystic liver disease | -| GARD:6168 | Polycystic kidney disease 4 with or without polycystic liver disease | -| GARD:16242 | Polycystic kidney disease 5 | -| GARD:16174 | Polycystic liver disease 2 with or without kidney cysts | -| GARD:19466 | Polycythemia | -| GARD:7422 | Polycythemia vera | -| GARD:4417 | Polydactyly of a biphalangeal thumb | -| GARD:5289 | Polydactyly of a triphalangeal thumb | -| GARD:2256 | Polydactyly of an index finger | -| GARD:4414 | Polydactyly, postaxial, type a1 | -| GARD:18178 | Polydactyly, postaxial, type a10 | -| GARD:18173 | Polydactyly, postaxial, type a2 | -| GARD:18174 | Polydactyly, postaxial, type a3 | -| GARD:18175 | Polydactyly, postaxial, type a4 | -| GARD:18172 | Polydactyly, postaxial, type a5 | -| GARD:18176 | Polydactyly, postaxial, type a6 | -| GARD:16293 | Polydactyly, postaxial, type a8 | -| GARD:18177 | Polydactyly, postaxial, type a9 | -| GARD:4413 | Polydactyly-myopia syndrome | -| GARD:9621 | Polyembryoma | -| GARD:17787 | Polyendocrine-polyneuropathy syndrome | -| GARD:19800 | Polyendocrinopathy | -| GARD:17643 | Polyglucosan body myopathy type 1 | -| GARD:17793 | Polyglucosan body myopathy type 2 | -| GARD:12913 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | -| GARD:20259 | Polymalformative genetic syndrome with increased risk of developing cancer | -| GARD:17772 | Polymerase proofreading-related adenomatous polyposis | -| GARD:18818 | Polymicrogyria | -| GARD:17375 | Polymicrogyria due to TUBB2B mutation | -| GARD:20687 | Polymicrogyria with optic nerve hypoplasia | -| GARD:16009 | Polymicrogyria, bilateral perisylvian, autosomal recessive | -| GARD:15256 | Polymicrogyria, bilateral perisylvian, x-linked | -| GARD:4704 | Polymyalgia rheumatica | -| GARD:7425 | Polymyositis | -| GARD:13173 | Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG | -| GARD:17071 | Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome | -| GARD:4424 | Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome | -| GARD:4213 | Polyostotic fibrous dysplasia | -| GARD:19348 | Polyploidy | -| GARD:18276 | Polyposis syndrome, hereditary mixed, 2 | -| GARD:20411 | Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies | -| GARD:19945 | Polyrrhinia | -| GARD:20910 | Polysomy of X chromosome | -| GARD:9903 | Polysyndactyly | -| GARD:4428 | Polysyndactyly-cardiac malformation syndrome | -| GARD:20594 | Polyvalvular heart disease syndrome | -| GARD:13588 | Pontiac fever | -| GARD:17855 | Pontine autosomal dominant microangiopathy with leukoencephalopathy | -| GARD:10919 | Pontine tegmental cap dysplasia | -| GARD:10704 | Pontocerebellar hypoplasia type 1 | -| GARD:17680 | Pontocerebellar hypoplasia type 10 | -| GARD:18029 | Pontocerebellar hypoplasia type 11 | -| GARD:18030 | Pontocerebellar hypoplasia type 12 | -| GARD:18031 | Pontocerebellar hypoplasia type 13 | -| GARD:18032 | Pontocerebellar hypoplasia type 14 | -| GARD:10705 | Pontocerebellar hypoplasia type 2 | -| GARD:10708 | Pontocerebellar hypoplasia type 3 | -| GARD:343 | Pontocerebellar hypoplasia type 4 | -| GARD:10710 | Pontocerebellar hypoplasia type 6 | -| GARD:17315 | Pontocerebellar hypoplasia type 7 | -| GARD:17488 | Pontocerebellar hypoplasia type 8 | -| GARD:17590 | Pontocerebellar hypoplasia type 9 | -| GARD:18562 | Pontocerebellar hypoplasia, type 14 | -| GARD:18563 | Pontocerebellar hypoplasia, type 15 | -| GARD:15416 | Pontocerebellar hypoplasia, type 1a | -| GARD:15834 | Pontocerebellar hypoplasia, type 1b | -| GARD:16058 | Pontocerebellar hypoplasia, type 1c | -| GARD:16289 | Pontocerebellar hypoplasia, type 1d | -| GARD:16441 | Pontocerebellar hypoplasia, type 1e | -| GARD:16442 | Pontocerebellar hypoplasia, type 1f | -| GARD:15244 | Pontocerebellar hypoplasia, type 2a | -| GARD:15553 | Pontocerebellar hypoplasia, type 2b | -| GARD:15554 | Pontocerebellar hypoplasia, type 2c | -| GARD:15717 | Pontocerebellar hypoplasia, type 2d | -| GARD:18348 | Pontocerebellar hypoplasia, type 2e | -| GARD:16178 | Pontocerebellar hypoplasia, type 2f | -| GARD:20897 | Poorly differentiated thymic neuroendocrine carcinoma | -| GARD:21189 | Popliteal pterygium syndrome | -| GARD:7430 | Porencephaly | -| GARD:4437 | Porencephaly-cerebellar hypoplasia-internal malformations syndrome | -| GARD:17380 | Porencephaly-microcephaly-bilateral congenital cataract syndrome | -| GARD:18989 | Porokeratosis | -| GARD:15108 | Porokeratosis 1, multiple types | -| GARD:9505 | Porokeratosis 3, multiple types | -| GARD:9504 | Porokeratosis 4, disseminated superficial actinic type | -| GARD:15551 | Porokeratosis 5, disseminated superficial actinic type | -| GARD:15552 | Porokeratosis 6, multiple types | -| GARD:15838 | Porokeratosis 7, multiple types | -| GARD:16056 | Porokeratosis 8, disseminated superficial actinic type | -| GARD:16146 | Porokeratosis 9, multiple types | -| GARD:4438 | Porokeratosis of Mibelli | -| GARD:16542 | Porokeratosis plantaris palmaris et disseminata | -| GARD:20070 | Porokeratotic eccrine ostial and dermal duct nevus | -| GARD:10353 | Porphyria | -| GARD:7433 | Porphyria cutanea tarda | -| GARD:16937 | Porphyria due to ALA dehydratase deficiency | -| GARD:7848 | Porphyria variegata | -| GARD:4014 | Port-wine nevi-mega cisterna magna-hydrocephalus syndrome | -| GARD:22393 | Portosinusoidal vascular disease | -| GARD:9553 | Post-transplant lymphoproliferative disease | -| GARD:19290 | Post-traumatic pituitary deficiency | -| GARD:8410 | Postaxial acrofacial dysostosis | -| GARD:16817 | Postaxial polydactyly type A | -| GARD:16818 | Postaxial polydactyly type B | -| GARD:13349 | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | -| GARD:16614 | Postaxial polydactyly-dental and vertebral anomalies syndrome | -| GARD:4065 | Postaxial tetramelic oligodactyly | -| GARD:20898 | Postcardiotomy right ventricular failure | -| GARD:19370 | Postencephalitic parkinsonism | -| GARD:16880 | Posterior amorphous corneal dystrophy | -| GARD:9898 | Posterior column ataxia-retinitis pigmentosa syndrome | -| GARD:19520 | Posterior corneal dystrophy | -| GARD:18846 | Posterior cortical atrophy | -| GARD:19483 | Posterior fossa malformation | -| GARD:2276 | Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome | -| GARD:20965 | Posterior meningocele | -| GARD:16882 | Posterior polymorphous corneal dystrophy | -| GARD:7439 | Posterior urethral valve | -| GARD:4457 | Posterior uveitis | -| GARD:18007 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | -| GARD:21272 | Postinfectious autoimmune disease with chorea | -| GARD:22502 | Postinfectious cerebellitis | -| GARD:18835 | Postinfectious vasculitis | -| GARD:17853 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | -| GARD:10809 | Postorgasmic illness syndrome | -| GARD:21853 | Postpartum psychosis | -| GARD:4454 | Postpoliomyelitis syndrome | -| GARD:15022 | Postsynaptic congenital myasthenic syndromes | -| GARD:20051 | Posttransplant acute limbic encephalitis | -| GARD:13591 | Postural orthostatic tachycardia syndrome due to NET deficiency | -| GARD:4459 | Potassium-aggravated myotonia | -| GARD:9762 | Potocki-Shaffer syndrome | -| GARD:20510 | Pouchitis | -| GARD:21632 | PrP systemic amyloidosis | -| GARD:5575 | Prader-Willi syndrome | -| GARD:17075 | Prader-Willi syndrome due to imprinting mutation | -| GARD:16861 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | -| GARD:19576 | Prader-Willi syndrome due to paternal 15q11q13 deletion | -| GARD:20138 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | -| GARD:20139 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | -| GARD:17074 | Prader-Willi syndrome due to translocation | -| GARD:21641 | Prader-Willi-like syndrome | -| GARD:21168 | Pre-Descemet corneal dystrophy | -| GARD:4304 | Preaxial polydactyly-colobomata-intellectual disability syndrome | -| GARD:21807 | Precocious puberty in female | -| GARD:16920 | Precursor B-cell acute lymphoblastic leukemia | -| GARD:19694 | Precursor T-cell acute lymphoblastic leukemia | -| GARD:17795 | Predisposition to invasive fungal disease due to CARD9 deficiency | -| GARD:22318 | Predisposition to severe viral infection due to IRF7 deficiency | -| GARD:19981 | Predominantly large-vessel vasculitis | -| GARD:19982 | Predominantly medium-vessel vasculitis | -| GARD:19983 | Predominantly small-vessel vasculitis | -| GARD:12924 | Preeclampsia | -| GARD:18389 | Preeclampsia/eclampsia 1 | -| GARD:18390 | Preeclampsia/eclampsia 2 | -| GARD:18391 | Preeclampsia/eclampsia 3 | -| GARD:18392 | Preeclampsia/eclampsia 4 | -| GARD:18393 | Preeclampsia/eclampsia 5 | -| GARD:19017 | Premature aging | -| GARD:19271 | Premature closure of the arterial duct | -| GARD:18044 | Premature ovarian failure 16 | -| GARD:20662 | Prenatal benign hypophosphatasia | -| GARD:15225 | Prenatal bowing | -| GARD:17882 | Prenatal-onset spinal muscular atrophy with congenital bone fractures | -| GARD:22191 | Prepubertal anorexia nervosa | -| GARD:19129 | Pressure-induced localized lipoatrophy | -| GARD:15023 | Presynaptic congenital myasthenic syndromes | -| GARD:17054 | Primary CD59 deficiency | -| GARD:9118 | Primary Fanconi renotubular syndrome | -| GARD:10252 | Primary Sjögren syndrome | -| GARD:10898 | Primary acquired pure red cell aplasia | -| GARD:19465 | Primary acquired red cell aplasia | -| GARD:19802 | Primary adrenal insufficiency | -| GARD:18709 | Primary adult heart tumor | -| GARD:20584 | Primary anetoderma | -| GARD:8703 | Primary angiitis of the central nervous system | -| GARD:22147 | Primary autoimmune enteropathy | -| GARD:21664 | Primary avascular necrosis | -| GARD:1037 | Primary basilar invagination | -| GARD:7459 | Primary biliary cholangitis | -| GARD:22250 | Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome | -| GARD:21567 | Primary bone dysplasia | -| GARD:19201 | Primary bone dysplasia with decreased bone density | -| GARD:19202 | Primary bone dysplasia with defective bone mineralization | -| GARD:19205 | Primary bone dysplasia with disorganized development of skeletal components | -| GARD:19200 | Primary bone dysplasia with increased bone density | -| GARD:21569 | Primary bone dysplasia with micromelia | -| GARD:19198 | Primary bone dysplasia with multiple joint dislocations | -| GARD:21568 | Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments | -| GARD:21385 | Primary bone lymphoma | -| GARD:9318 | Primary central nervous system lymphoma | -| GARD:4484 | Primary ciliary dyskinesia | -| GARD:17190 | Primary ciliary dyskinesia-retinitis pigmentosa syndrome | -| GARD:21966 | Primary condylar hyperplasia | -| GARD:20561 | Primary congenital hypothyroidism | -| GARD:19296 | Primary congenital hypothyroidism without thyroid developmental anomaly | -| GARD:20165 | Primary cutaneous B-cell lymphoma | -| GARD:18697 | Primary cutaneous CD30+ T-cell lymphoproliferative disease | -| GARD:20156 | Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma | -| GARD:6226 | Primary cutaneous T-cell lymphoma | -| GARD:20157 | Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma | -| GARD:132 | Primary cutaneous amyloidosis | -| GARD:21247 | Primary cutaneous anaplastic large cell lymphoma | -| GARD:20160 | Primary cutaneous diffuse large B-cell lymphoma, leg type | -| GARD:13701 | Primary cutaneous follicle center lymphoma | -| GARD:20158 | Primary cutaneous gamma/delta-positive T-cell lymphoma | -| GARD:18698 | Primary cutaneous lymphoma | -| GARD:20159 | Primary cutaneous marginal zone B-cell lymphoma | -| GARD:19078 | Primary cutaneous peripheral T-cell lymphoma not otherwise specified | -| GARD:21888 | Primary cutaneous plasmacytosis | -| GARD:1643 | Primary cutis verticis gyrata | -| GARD:22268 | Primary desmosis coli | -| GARD:10537 | Primary dystonia, DYT13 type | -| GARD:10536 | Primary dystonia, DYT17 type | -| GARD:2028 | Primary dystonia, DYT2 type | -| GARD:17383 | Primary dystonia, DYT21 type | -| GARD:17819 | Primary dystonia, DYT27 type | -| GARD:10138 | Primary dystonia, DYT4 type | -| GARD:9630 | Primary dystonia, DYT6 type | -| GARD:16490 | Primary early-onset glaucoma | -| GARD:9247 | Primary effusion lymphoma | -| GARD:21714 | Primary eosinophilic gastrointestinal disease | -| GARD:6377 | Primary erythromelalgia | -| GARD:21537 | Primary essential cutis verticis gyrata | -| GARD:17692 | Primary failure of tooth eruption | -| GARD:9843 | Primary familial polycythemia | -| GARD:20732 | Primary germ cell tumor of central nervous system | -| GARD:20025 | Primary hemophagocytic lymphohistiocytosis | -| GARD:19760 | Primary hepatic neuroendocrine carcinoma | -| GARD:17591 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | -| GARD:21395 | Primary hypereosinophilic syndrome | -| GARD:16588 | Primary hypergonadotropic hypogonadism-partial alopecia syndrome | -| GARD:16530 | Primary hyperoxaluria | -| GARD:2835 | Primary hyperoxaluria type 1 | -| GARD:2836 | Primary hyperoxaluria type 2 | -| GARD:10738 | Primary hyperoxaluria type 3 | -| GARD:20667 | Primary hypertrophic osteoarthropathy | -| GARD:21254 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis | -| GARD:3451 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | -| GARD:2906 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | -| GARD:13072 | Primary hypomagnesemia with secondary hypocalcemia | -| GARD:22484 | Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome | -| GARD:22266 | Primary hypomagnesemia-refractory seizures-intellectual disability syndrome | -| GARD:19281 | Primary hypophysitis | -| GARD:19813 | Primary immunodeficiency | -| GARD:20168 | Primary immunodeficiency due to a defect in adaptive immunity | -| GARD:19810 | Primary immunodeficiency due to a defect in innate immunity | -| GARD:16783 | Primary immunodeficiency syndrome due to LAMTOR2 deficiency | -| GARD:16695 | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | -| GARD:17711 | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | -| GARD:21795 | Primary immunodeficiency with predisposition to severe viral infection | -| GARD:20935 | Primary interstitial lung disease in childhood and adulthood | -| GARD:20936 | Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder | -| GARD:20937 | Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder | -| GARD:20932 | Primary interstitial lung disease specific to adulthood | -| GARD:10559 | Primary interstitial lung disease specific to childhood | -| GARD:20922 | Primary interstitial lung disease specific to childhood due to alveolar structure disorder | -| GARD:20923 | Primary interstitial lung disease specific to childhood due to alveolar vascular disorder | -| GARD:19746 | Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies | -| GARD:7873 | Primary intestinal lymphangiectasia | -| GARD:21974 | Primary intrahepatic lithiasis | -| GARD:21909 | Primary intralymphatic angioendothelioma | -| GARD:21063 | Primary intraocular lymphoma | -| GARD:16961 | Primary intraosseous venous malformation | -| GARD:19891 | Primary laryngeal lymphangioma | -| GARD:10684 | Primary lateral sclerosis | -| GARD:12596 | Primary lipodystrophy | -| GARD:21387 | Primary localized amyloidosis | -| GARD:18932 | Primary lymphedema | -| GARD:22297 | Primary lymphedema with systemic or visceral involvement | -| GARD:22296 | Primary lymphedema without systemic or visceral involvement | -| GARD:21426 | Primary lymphoma of the conjunctiva | -| GARD:20101 | Primary malignant peritoneal tumor | -| GARD:19589 | Primary mediastinal large B-cell lymphoma | -| GARD:20639 | Primary megaureter, adult-onset form | -| GARD:20738 | Primary melanocytic tumor of central nervous system | -| GARD:12016 | Primary melanoma of the central nervous system | -| GARD:11982 | Primary membranoproliferative glomerulonephritis | -| GARD:9180 | Primary membranous glomerulonephritis | -| GARD:17381 | Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | -| GARD:17620 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | -| GARD:8618 | Primary myelofibrosis | -| GARD:21275 | Primary myoclonus | -| GARD:21538 | Primary non-essential cutis verticis gyrata | -| GARD:21136 | Primary non-gestational choriocarcinoma of ovary | -| GARD:21062 | Primary oculocerebral lymphoma | -| GARD:21064 | Primary organ-specific lymphoma | -| GARD:22141 | Primary orthostatic disorder | -| GARD:12959 | Primary orthostatic hypotension | -| GARD:8563 | Primary orthostatic tremor | -| GARD:19204 | Primary osteolysis | -| GARD:18710 | Primary pediatric heart tumor | -| GARD:20103 | Primary peritoneal carcinoma | -| GARD:21653 | Primary peritoneal serous/papillary carcinoma | -| GARD:20100 | Primary peritoneal tumor | -| GARD:10906 | Primary pigmented nodular adrenocortical disease | -| GARD:19739 | Primary plasmacytoma of the bone | -| GARD:21830 | Primary polyarteritis nodosa | -| GARD:8541 | Primary progressive aphasia | -| GARD:21377 | Primary progressive apraxia of speech | -| GARD:18930 | Primary progressive freezing gait | -| GARD:16591 | Primary pulmonary hypoplasia | -| GARD:18770 | Primary pulmonary lymphoma | -| GARD:21602 | Primary qualitative or quantitative defects of alpha-dystroglycan | -| GARD:7552 | Primary renal tubular acidosis | -| GARD:1280 | Primary sclerosing cholangitis | -| GARD:21578 | Primary short bowel syndrome | -| GARD:19691 | Primary syringomyelia | -| GARD:17431 | Primary systemic amyloidosis | -| GARD:4018 | Primary tethered cord syndrome | -| GARD:20620 | Primary unilateral adrenal hyperplasia | -| GARD:20496 | Primitive neuroectodermal tumor of the cervix uteri | -| GARD:20478 | Primitive neuroectodermal tumor of the corpus uteri | -| GARD:18707 | Primitive portal vein thrombosis | -| GARD:19947 | Proboscis lateralis | -| GARD:4494 | Progeria-short stature-pigmented nevi syndrome | -| GARD:17371 | Progeroid and marfanoid aspect-lipodystrophy syndrome | -| GARD:17722 | Progeroid features-hepatocellular carcinoma predisposition syndrome | -| GARD:19906 | Progeroid syndrome | -| GARD:4497 | Progeroid syndrome, Petty type | -| GARD:17780 | Progressive autosomal recessive ataxia-deafness syndrome | -| GARD:10123 | Progressive bifocal chorioretinal atrophy | -| GARD:19918 | Progressive cavitating leukoencephalopathy | -| GARD:17187 | Progressive cerebello-cerebral atrophy | -| GARD:11897 | Progressive cone dystrophy | -| GARD:5170 | Progressive deafness with stapes fixation | -| GARD:22208 | Progressive dementia with neuroserpin inclusion bodies | -| GARD:13110 | Progressive encephalomyelitis with rigidity and myoclonus | -| GARD:10327 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | -| GARD:4010 | Progressive epilepsy-intellectual disability syndrome, Finnish type | -| GARD:17798 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | -| GARD:4503 | Progressive external ophthalmoplegia | -| GARD:13174 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 | -| GARD:16498 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 | -| GARD:16499 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 | -| GARD:16500 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 | -| GARD:16501 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 | -| GARD:15215 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 | -| GARD:18450 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 | -| GARD:16183 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 | -| GARD:17517 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | -| GARD:1093 | Progressive familial heart block, type ia | -| GARD:2610 | Progressive familial heart block, type ib | -| GARD:4879 | Progressive familial heart block, type ii | -| GARD:15255 | Progressive familial intrahepatic cholestasis | -| GARD:9802 | Progressive familial intrahepatic cholestasis type 1 | -| GARD:1288 | Progressive familial intrahepatic cholestasis type 2 | -| GARD:1289 | Progressive familial intrahepatic cholestasis type 3 | -| GARD:9803 | Progressive familial intrahepatic cholestasis type 4 | -| GARD:17867 | Progressive familial intrahepatic cholestasis type 5 | -| GARD:7338 | Progressive hemifacial atrophy | -| GARD:17858 | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | -| GARD:7468 | Progressive multifocal leukoencephalopathy | -| GARD:21891 | Progressive muscular atrophy | -| GARD:20360 | Progressive muscular dystrophy | -| GARD:7140 | Progressive myoclonic epilepsy | -| GARD:3876 | Progressive myoclonic epilepsy type 1 | -| GARD:2167 | Progressive myoclonic epilepsy type 3 | -| GARD:17671 | Progressive myoclonic epilepsy type 5 | -| GARD:3872 | Progressive myoclonic epilepsy type 6 | -| GARD:17715 | Progressive myoclonic epilepsy type 7 | -| GARD:17706 | Progressive myoclonic epilepsy type 8 | -| GARD:17801 | Progressive myoclonic epilepsy type 9 | -| GARD:17522 | Progressive myoclonic epilepsy with dystonia | -| GARD:22207 | Progressive myoclonic epilepsy with neuroserpin inclusion bodies | -| GARD:20023 | Progressive nodular histiocytosis | -| GARD:10793 | Progressive non-fluent aphasia | -| GARD:18759 | Progressive non-infectious anterior vertebral fusion | -| GARD:109 | Progressive osseous heteroplasia | -| GARD:17123 | Progressive polyneuropathy with bilateral striatal necrosis | -| GARD:9184 | Progressive pseudorheumatoid arthropathy of childhood | -| GARD:17529 | Progressive retinal dystrophy due to retinol transport defect | -| GARD:17779 | Progressive scapulohumeroperoneal distal myopathy | -| GARD:17145 | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | -| GARD:17808 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | -| GARD:7471 | Progressive supranuclear palsy | -| GARD:20648 | Progressive supranuclear palsy-corticobasal syndrome | -| GARD:17183 | Progressive supranuclear palsy-parkinsonism syndrome | -| GARD:20649 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | -| GARD:20647 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | -| GARD:18639 | Progressive symmetric erythrokeratodermia | -| GARD:4508 | Prolactinoma | -| GARD:7473 | Prolidase deficiency | -| GARD:4509 | Proliferating trichilemmal cyst | -| GARD:144 | Prominent glabella-microcephaly-hypogenitalism syndrome | -| GARD:4513 | Properdin deficiency | -| GARD:467 | Propionic acidemia | -| GARD:21991 | Propylthiouracil embryofetopathy | -| GARD:15334 | Prostate cancer, hereditary, 1 | -| GARD:15507 | Prostate cancer, hereditary, 10 | -| GARD:15536 | Prostate cancer, hereditary, 11 | -| GARD:15529 | Prostate cancer, hereditary, 12 | -| GARD:15534 | Prostate cancer, hereditary, 13 | -| GARD:15537 | Prostate cancer, hereditary, 14 | -| GARD:15538 | Prostate cancer, hereditary, 15 | -| GARD:15839 | Prostate cancer, hereditary, 2 | -| GARD:15439 | Prostate cancer, hereditary, 3 | -| GARD:15440 | Prostate cancer, hereditary, 4 | -| GARD:15455 | Prostate cancer, hereditary, 5 | -| GARD:15462 | Prostate cancer, hereditary, 6 | -| GARD:15478 | Prostate cancer, hereditary, 7 | -| GARD:15351 | Prostate cancer, hereditary, 8 | -| GARD:15505 | Prostate cancer, hereditary, 9 | -| GARD:15253 | Prostate cancer, hereditary, x-linked 1 | -| GARD:15260 | Prostate cancer, hereditary, x-linked 2 | -| GARD:15357 | Prostate cancer/brain cancer susceptibility | -| GARD:13824 | Proteasome-associated autoinflammatory syndrome | -| GARD:3916 | Proteasome-associated autoinflammatory syndrome 1 | -| GARD:18447 | Proteasome-associated autoinflammatory syndrome 2 | -| GARD:18446 | Proteasome-associated autoinflammatory syndrome 3 | -| GARD:18449 | Proteasome-associated autoinflammatory syndrome 4 | -| GARD:18448 | Proteasome-associated autoinflammatory syndrome 5 | -| GARD:18799 | Protein S acquired deficiency | -| GARD:15301 | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | -| GARD:7475 | Proteus syndrome | -| GARD:12801 | Proteus-like syndrome | -| GARD:21735 | Proton-pump inhibitor-responsive esophageal eosinophilia | -| GARD:20707 | Protoplasmic astrocytoma | -| GARD:10740 | Proximal 16p11.2 microdeletion syndrome | -| GARD:12388 | Proximal 16p11.2 microduplication syndrome | -| GARD:9781 | Proximal Xq28 duplication syndrome | -| GARD:12978 | Proximal myopathy with extrapyramidal signs | -| GARD:17956 | Proximal myopathy with focal depletion of mitochondria | -| GARD:9728 | Proximal myotonic myopathy | -| GARD:16644 | Proximal renal tubular acidosis | -| GARD:4531 | Proximal spinal muscular atrophy | -| GARD:7883 | Proximal spinal muscular atrophy type 1 | -| GARD:4945 | Proximal spinal muscular atrophy type 2 | -| GARD:198 | Proximal spinal muscular atrophy type 3 | -| GARD:564 | Proximal spinal muscular atrophy type 4 | -| GARD:8182 | Proximal symphalangism | -| GARD:7479 | Prune belly syndrome | -| GARD:9635 | Pruritic urticarial papules and plaques of pregnancy | -| GARD:21373 | Pseudo-Meigs syndrome | -| GARD:8312 | Pseudo-von Willebrand disease | -| GARD:4540 | Pseudoachondroplasia | -| GARD:4544 | Pseudoaminopterin syndrome | -| GARD:9463 | Pseudodiastrophic dysplasia | -| GARD:21861 | Pseudohypoaldosteronism | -| GARD:16545 | Pseudohypoaldosteronism type 1 | -| GARD:4553 | Pseudohypoaldosteronism type 2 | -| GARD:16775 | Pseudohypoaldosteronism type 2A | -| GARD:16776 | Pseudohypoaldosteronism type 2B | -| GARD:16777 | Pseudohypoaldosteronism type 2C | -| GARD:17372 | Pseudohypoaldosteronism type 2D | -| GARD:17373 | Pseudohypoaldosteronism type 2E | -| GARD:10758 | Pseudohypoparathyroidism | -| GARD:7486 | Pseudohypoparathyroidism type 1A | -| GARD:10680 | Pseudohypoparathyroidism type 1B | -| GARD:10681 | Pseudohypoparathyroidism type 1C | -| GARD:10682 | Pseudohypoparathyroidism type 2 | -| GARD:5770 | Pseudohypoparathyroidism with Albright hereditary osteodystrophy | -| GARD:21900 | Pseudohypoparathyroidism without Albright hereditary osteodystrophy | -| GARD:4259 | Pseudoleprechaunism syndrome, Patterson type | -| GARD:7488 | Pseudomyxoma peritonei | -| GARD:22114 | Pseudopapilledema | -| GARD:4536 | Pseudopelade of Brocq | -| GARD:415 | Pseudoprogeria syndrome | -| GARD:7860 | Pseudopseudohypoparathyroidism | -| GARD:19034 | Pseudotyphus of California | -| GARD:20175 | Pseudounicornuate uterus | -| GARD:9643 | Pseudoxanthoma elasticum | -| GARD:10104 | Pseudoxanthoma elasticum, forme fruste | -| GARD:20588 | Pseudoxanthoma elasticum-like papillary dermal elastolysis | -| GARD:21820 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | -| GARD:21089 | Pseudoxanthomatous diffuse cutaneous mastocytosis | -| GARD:16059 | Psoriasis 15, pustular, susceptibility to | -| GARD:10970 | Psoriasis-related juvenile idiopathic arthritis | -| GARD:18914 | Psychogenic movement disorders | -| GARD:17943 | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | -| GARD:2843 | Pterin-4 alpha-carbinolamine dehydratase deficiency | -| GARD:4568 | Pterygium colli-intellectual disability-digital anomalies syndrome | -| GARD:18162 | Ptosis, hereditary congenital 1 | -| GARD:18163 | Ptosis, hereditary congenital 2 | -| GARD:4577 | Ptosis-strabismus-ectopic pupils syndrome | -| GARD:20593 | Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome | -| GARD:427 | Ptosis-vocal cord paralysis syndrome | -| GARD:10713 | Pudendal neuralgia | -| GARD:9119 | Pulmonary agenesis | -| GARD:11894 | Pulmonary alveolar microlithiasis | -| GARD:7501 | Pulmonary arterial hypertension | -| GARD:21030 | Pulmonary arterial hypertension associated with HIV infection | -| GARD:21027 | Pulmonary arterial hypertension associated with another disease | -| GARD:21033 | Pulmonary arterial hypertension associated with chronic hemolytic anemia | -| GARD:21029 | Pulmonary arterial hypertension associated with congenital heart disease | -| GARD:21028 | Pulmonary arterial hypertension associated with connective tissue disease | -| GARD:21031 | Pulmonary arterial hypertension associated with portal hypertension | -| GARD:21032 | Pulmonary arterial hypertension associated with schistosomiasis | -| GARD:4584 | Pulmonary arteriovenous malformation | -| GARD:19619 | Pulmonary artery coming from patent ductus arteriosus | -| GARD:19642 | Pulmonary artery hypoplasia | -| GARD:19553 | Pulmonary artery or pulmonary branch anomaly | -| GARD:4588 | Pulmonary atresia with ventricular septal defect | -| GARD:4600 | Pulmonary atresia-intact ventricular septum syndrome | -| GARD:18864 | Pulmonary blastoma | -| GARD:15027 | Pulmonary capillary hemangiomatosis | -| GARD:16098 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | -| GARD:16097 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | -| GARD:20449 | Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome | -| GARD:20512 | Pulmonary fungal infections in patients deemed at risk | -| GARD:21034 | Pulmonary hypertension owing to lung disease and/or hypoxia | -| GARD:21035 | Pulmonary hypertension with unclear multifactorial mechanism | -| GARD:18394 | Pulmonary hypertension, primary, 2 | -| GARD:20516 | Pulmonary interstitial glycogenosis | -| GARD:16663 | Pulmonary nodular lymphoid hyperplasia | -| GARD:12829 | Pulmonary non-tuberculous mycobacterial infection | -| GARD:4597 | Pulmonary valve agenesis | -| GARD:19618 | Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome | -| GARD:19780 | Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome | -| GARD:21801 | Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis | -| GARD:10153 | Pulmonary venoocclusive disease | -| GARD:8527 | Pulmonary venoocclusive disease 2, autosomal recessive | -| GARD:16884 | Pulverulent cataract | -| GARD:4603 | Punctate acrokeratoderma freckle-like pigmentation | -| GARD:7503 | Punctate inner choroidopathy | -| GARD:21297 | Punctate palmoplantar keratoderma | -| GARD:3103 | Punctate palmoplantar keratoderma type 1 | -| GARD:4439 | Punctate palmoplantar keratoderma type 2 | -| GARD:10428 | Pure autonomic failure | -| GARD:16680 | Pure hair and nail ectodermal dysplasia | -| GARD:19822 | Pure hereditary spastic paraplegia | -| GARD:20768 | Pure mitochondrial myopathy | -| GARD:21432 | Pure or complex X-linked spastic paraplegia | -| GARD:21430 | Pure or complex autosomal dominant spastic paraplegia | -| GARD:21431 | Pure or complex autosomal recessive spastic paraplegia | -| GARD:21429 | Pure or complex hereditary spastic paraplegia | -| GARD:4606 | Purine nucleoside phosphorylase deficiency | -| GARD:22221 | Pustular pyoderma gangrenosum | -| GARD:12820 | Pustulosis palmaris et plantaris | -| GARD:4611 | Pycnodysostosis | -| GARD:4610 | Pyknoachondrogenesis | -| GARD:4612 | Pyle disease | -| GARD:7510 | Pyoderma gangrenosum | -| GARD:21139 | Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome | -| GARD:9176 | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | -| GARD:21454 | Pyogenic autoinflammatory syndrome | -| GARD:21459 | Pyogenic autoinflammatory syndrome of childhood | -| GARD:4614 | Pyomyositis | -| GARD:469 | Pyramidal molars-abnormal upper lip syndrome | -| GARD:10730 | Pyridoxal phosphate-responsive seizures | -| GARD:9298 | Pyridoxine-dependent epilepsy | -| GARD:7512 | Pyruvate carboxylase deficiency | -| GARD:17538 | Pyruvate carboxylase deficiency, benign type | -| GARD:17536 | Pyruvate carboxylase deficiency, infantile type | -| GARD:17537 | Pyruvate carboxylase deficiency, severe neonatal type | -| GARD:4620 | Pyruvate dehydrogenase E1-alpha deficiency | -| GARD:17236 | Pyruvate dehydrogenase E1-beta deficiency | -| GARD:16712 | Pyruvate dehydrogenase E2 deficiency | -| GARD:3263 | Pyruvate dehydrogenase E3 deficiency | -| GARD:17237 | Pyruvate dehydrogenase E3-binding protein deficiency | -| GARD:7513 | Pyruvate dehydrogenase deficiency | -| GARD:9888 | Pyruvate dehydrogenase phosphatase deficiency | -| GARD:20752 | Pyruvate metabolism disorder | -| GARD:7515 | Q fever | -| GARD:18015 | QRICH1-related intellectual disability-chondrodysplasia syndrome | -| GARD:18006 | QRSL1-related combined oxidative phosphorylation defect | -| GARD:371 | Qazi-Markouizos syndrome | -| GARD:22229 | Quadricuspid aortic valve | -| GARD:20403 | Qualitative or quantitative defects of FKRP | -| GARD:20400 | Qualitative or quantitative defects of TRIM32 | -| GARD:21784 | Qualitative or quantitative defects of Torsin-1A-interacting protein 1 | -| GARD:20432 | Qualitative or quantitative defects of alpha-actin | -| GARD:21601 | Qualitative or quantitative defects of alpha-dystroglycan | -| GARD:20390 | Qualitative or quantitative defects of alpha-sarcoglycan | -| GARD:20427 | Qualitative or quantitative defects of alphaB-cristallin | -| GARD:20434 | Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) | -| GARD:20391 | Qualitative or quantitative defects of beta-sarcoglycan | -| GARD:20399 | Qualitative or quantitative defects of calpain | -| GARD:20394 | Qualitative or quantitative defects of caveolin-3 | -| GARD:20395 | Qualitative or quantitative defects of collagen 6 | -| GARD:20393 | Qualitative or quantitative defects of delta-sarcoglycan | -| GARD:20426 | Qualitative or quantitative defects of desmin | -| GARD:2003 | Qualitative or quantitative defects of dysferlin | -| GARD:2031 | Qualitative or quantitative defects of dystrophin | -| GARD:20435 | Qualitative or quantitative defects of emerin | -| GARD:20428 | Qualitative or quantitative defects of filamin C | -| GARD:20404 | Qualitative or quantitative defects of fukutin | -| GARD:20392 | Qualitative or quantitative defects of gamma-sarcoglycan | -| GARD:20439 | Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - | -| GARD:20397 | Qualitative or quantitative defects of integrin alpha-7 | -| GARD:20425 | Qualitative or quantitative defects of myofibrillar proteins | -| GARD:20401 | Qualitative or quantitative defects of myotubularin | -| GARD:20433 | Qualitative or quantitative defects of nebulin | -| GARD:20398 | Qualitative or quantitative defects of perlecan | -| GARD:20437 | Qualitative or quantitative defects of plectin | -| GARD:20421 | Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase | -| GARD:20423 | Qualitative or quantitative defects of protein O-mannosyltransferase 1 | -| GARD:20424 | Qualitative or quantitative defects of protein O-mannosyltransferase 2 | -| GARD:20438 | Qualitative or quantitative defects of protein SERCA1 | -| GARD:20429 | Qualitative or quantitative defects of protein ZASP | -| GARD:20422 | Qualitative or quantitative defects of protein glycosyltransferase-like | -| GARD:20402 | Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan | -| GARD:20389 | Qualitative or quantitative defects of sarcoglycan | -| GARD:20436 | Qualitative or quantitative defects of selenoprotein N1 | -| GARD:20431 | Qualitative or quantitative defects of telethonin | -| GARD:20430 | Qualitative or quantitative defects of titin | -| GARD:21123 | Qualitative or quantitative defects of tropomyosin | -| GARD:21122 | Qualitative or quantitative defects of troponin | -| GARD:20388 | Qualitative or quantitative protein defects in neuromuscular diseases | -| GARD:19808 | Quantitative and/or qualitative congenital phagocyte defect | -| GARD:8345 | Quebec platelet disorder | -| GARD:15583 | Question mark ears, isolated | -| GARD:373 | Quinquaud folliculitis decalvans | -| GARD:4637 | RAPADILINO syndrome | -| GARD:17734 | RARS-related autosomal recessive hypomyelinating leukodystrophy | -| GARD:17262 | RAS-associated autoimmune leukoproliferative disease | -| GARD:22213 | RASopathy | -| GARD:22210 | RELA fusion-positive ependymoma | -| GARD:13461 | REN-related autosomal dominant tubulointerstitial kidney disease | -| GARD:17902 | RERE-related neurodevelopmental syndrome | -| GARD:12394 | RFT1-CDG | -| GARD:18010 | RFVT2-related riboflavin transporter deficiency | -| GARD:12861 | RFVT3-related riboflavin transporter deficiency | -| GARD:9681 | RHYNS syndrome | -| GARD:17701 | RIDDLE syndrome | -| GARD:17120 | RIN2 syndrome | -| GARD:17988 | RNF13-related severe early-onset epileptic encephalopathy | -| GARD:7516 | Rabies | -| GARD:226 | Rabson-Mendenhall syndrome | -| GARD:18716 | Radial deficiency-tibial hypoplasia syndrome | -| GARD:225 | Radial hemimelia | -| GARD:258 | Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome | -| GARD:4627 | Radial ray hypoplasia-choanal atresia syndrome | -| GARD:19099 | Radiation myelitis | -| GARD:18900 | Radiation proctitis | -| GARD:22139 | Radiation-induced disorder | -| GARD:22137 | Radiation-induced plexopathy | -| GARD:224 | Radio-renal syndrome | -| GARD:21222 | Radio-ulnar synostosis, bilateral | -| GARD:21221 | Radio-ulnar synostosis, unilateral | -| GARD:16687 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | -| GARD:18068 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | -| GARD:18069 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | -| GARD:1810 | Radioulnar synostosis-developmental delay-hypotonia syndrome | -| GARD:394 | Radioulnar synostosis-microcephaly-scoliosis syndrome | -| GARD:22550 | Rafiq syndrome | -| GARD:18297 | Rajab interstitial lung disease with brain calcifications 1 | -| GARD:18298 | Rajab interstitial lung disease with brain calcifications 2 | -| GARD:7523 | Ramon syndrome | -| GARD:4636 | Ramos-Arroyo syndrome | -| GARD:7525 | Ramsay Hunt syndrome | -| GARD:10407 | Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome | -| GARD:9628 | Rapid-onset dystonia-parkinsonism | -| GARD:19958 | Rapidly involuting congenital hemangioma | -| GARD:22534 | Rare abdominal surgical disease | -| GARD:20058 | Rare acquired aplastic anemia | -| GARD:20670 | Rare acquired deficiency anemia | -| GARD:20236 | Rare acquired hemolytic anemia | -| GARD:12773 | Rare adenocarcinoma of the breast | -| GARD:19798 | Rare adrenal disease | -| GARD:20136 | Rare adult hypothyroidism | -| GARD:22530 | Rare allergic disease | -| GARD:19398 | Rare allergic respiratory disease | -| GARD:19869 | Rare anemia | -| GARD:20464 | Rare arteriovenous malformation | -| GARD:19816 | Rare ataxia | -| GARD:19558 | Rare atrial defect and interatrial communication | -| GARD:21754 | Rare autonomic nervous system disorder | -| GARD:20044 | Rare bacterial infectious disease | -| GARD:12775 | Rare benign breast tumor | -| GARD:19363 | Rare benign ovarian tumor | -| GARD:19791 | Rare biliary tract disease | -| GARD:19901 | Rare bone development disorder | -| GARD:22511 | Rare bone disease | -| GARD:21575 | Rare bone disease related to a common gene or pathway defect | -| GARD:18892 | Rare bone tumor | -| GARD:22115 | Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature | -| GARD:20192 | Rare breast malformation | -| GARD:20205 | Rare breast tumor | -| GARD:19794 | Rare bronchopulmonary tumor | -| GARD:20486 | Rare cancer of cervix uteri | -| GARD:20470 | Rare cancer of corpus uteri | -| GARD:20461 | Rare capillary malformation | -| GARD:21914 | Rare capillary malformation with associated anomalies | -| GARD:20511 | Rare carcinoma of pancreas | -| GARD:21763 | Rare carcinoma of small intestine | -| GARD:21757 | Rare carcinoma of stomach | -| GARD:22515 | Rare cardiac disease | -| GARD:20536 | Rare cardiac rhythm disease | -| GARD:20097 | Rare cardiac tumor | -| GARD:20096 | Rare cardiomyopathy | -| GARD:19232 | Rare cause of hypertension | -| GARD:18911 | Rare central nervous system and retinal vascular disease | -| GARD:19492 | Rare cerebrovascular dementia | -| GARD:21270 | Rare choreic movement disorder | -| GARD:22100 | Rare choroidal disorder | -| GARD:18874 | Rare chromosomal anomaly | -| GARD:22527 | Rare circulatory system disease | -| GARD:19468 | Rare coagulation disorder | -| GARD:21916 | Rare combined vascular malformation | -| GARD:21948 | Rare congenital anomaly of ventricular septum | -| GARD:19094 | Rare congenital non-syndromic heart malformation | -| GARD:22086 | Rare conjunctivitis | -| GARD:20318 | Rare constitutional anemia | -| GARD:18889 | Rare constitutional aplastic anemia | -| GARD:20235 | Rare constitutional hemolytic anemia | -| GARD:19455 | Rare constitutional hemolytic anemia due to a red cell membrane anomaly | -| GARD:19458 | Rare constitutional hemolytic anemia due to an enzyme disorder | -| GARD:22087 | Rare corneal disorder | -| GARD:20744 | Rare cutaneous lichen planus | -| GARD:6225 | Rare cutaneous lupus erythematosus | -| GARD:18880 | Rare deafness | -| GARD:20668 | Rare deficiency anemia | -| GARD:19096 | Rare dementia | -| GARD:22513 | Rare developmental defect during embryogenesis | -| GARD:19905 | Rare developmental defect with connective tissue involvement | -| GARD:19904 | Rare developmental defect with skin/mucosae involvement | -| GARD:19796 | Rare diabetes mellitus | -| GARD:20215 | Rare diabetes mellitus type 1 | -| GARD:20216 | Rare diabetes mellitus type 2 | -| GARD:19403 | Rare digestive tumor | -| GARD:19846 | Rare disease involving intestinal motility | -| GARD:21388 | Rare disease with Cushing syndrome as a major feature | -| GARD:19895 | Rare disease with Pierre Robin syndrome | -| GARD:10248 | Rare disease with autism | -| GARD:20095 | Rare disease with dentinogenesis imperfecta | -| GARD:19524 | Rare disease with glaucoma as a major feature | -| GARD:21937 | Rare disease with malignant hyperthermia | -| GARD:21276 | Rare disease with myoclonus as a major feature | -| GARD:19388 | Rare disease with odontological manifestation | -| GARD:21130 | Rare disease with thoracic aortic aneurysm and aortic dissection | -| GARD:22451 | Rare disorder due to inadequate sharing of the placenta | -| GARD:22245 | Rare disorder due to poisoning | -| GARD:22533 | Rare disorder due to toxic effects | -| GARD:22450 | Rare disorder due to unbalanced inter-twin blood transfusion | -| GARD:22110 | Rare disorder involving multiple structures of the eye | -| GARD:22088 | Rare disorder of the anterior segment of the eye | -| GARD:19509 | Rare disorder of the lacrimal apparatus | -| GARD:22079 | Rare disorder of the ocular adnexa | -| GARD:22101 | Rare disorder of the posterior segment of the eye | -| GARD:22089 | Rare disorder of the pupil | -| GARD:22135 | Rare disorder of the visual organs | -| GARD:22062 | Rare disorder potentially indicated for bowel transplant | -| GARD:22065 | Rare disorder potentially indicated for heart transplant | -| GARD:22063 | Rare disorder potentially indicated for hematopoietic stem cell transplant | -| GARD:22061 | Rare disorder potentially indicated for kidney transplant | -| GARD:22060 | Rare disorder potentially indicated for liver transplant | -| GARD:22064 | Rare disorder potentially indicated for lung transplant | -| GARD:22059 | Rare disorder potentially indicated for transplant | -| GARD:22536 | Rare disorder potentially indicated for transplant or complication after transplantation | -| GARD:22449 | Rare disorder related to monochorionic twin pregnancy | -| GARD:20049 | Rare disorder related with pregnancy, childbirth and puerperium | -| GARD:22248 | Rare disorder with Hirschsprung disease as a major feature | -| GARD:21965 | Rare disorder with a moyamoya angiopathy | -| GARD:19513 | Rare disorder with conjunctival involvement as a major feature | -| GARD:22090 | Rare disorder with corneal involvement as a major feature | -| GARD:21596 | Rare disorder with dystonia and other neurologic or systemic manifestation | -| GARD:22080 | Rare disorder with ectropion | -| GARD:22081 | Rare disorder with entropion | -| GARD:21680 | Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism | -| GARD:20233 | Rare disorder with hypergonadotropic hypogonadism | -| GARD:18996 | Rare disorder with hypertrichosis | -| GARD:19526 | Rare disorder with lens opacification | -| GARD:20219 | Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism | -| GARD:21677 | Rare disorder with obstructive azoospermia | -| GARD:22117 | Rare disorder with optic disc malformation | -| GARD:22094 | Rare disorder with pigmented sclera | -| GARD:19507 | Rare disorder with ptosis | -| GARD:19541 | Rare disorder with strabismus | -| GARD:22444 | Rare disorder without a determined diagnosis after full investigation | -| GARD:19797 | Rare dyslipidemia | -| GARD:18882 | Rare dystonia | -| GARD:22521 | Rare endocrine disease | -| GARD:19146 | Rare endocrine growth disease | -| GARD:19814 | Rare epilepsy | -| GARD:21767 | Rare epithelial tumor of colon | -| GARD:21775 | Rare epithelial tumor of pancreas | -| GARD:21769 | Rare epithelial tumor of rectum | -| GARD:21794 | Rare epithelial tumor of small intestine | -| GARD:18857 | Rare epithelial tumor of stomach | -| GARD:19795 | Rare eye tumor | -| GARD:19508 | Rare eyebrow/eyelash disorder | -| GARD:19501 | Rare eyelid malposition disorder | -| GARD:19686 | Rare familial disorder with hypertrophic cardiomyopathy | -| GARD:19397 | Rare female infertility | -| GARD:21679 | Rare female infertility due to a congenital hypogonadotropic hypogonadism | -| GARD:21692 | Rare female infertility due to adrenal disorder of genetic origin | -| GARD:21681 | Rare female infertility due to an adrenal disorder | -| GARD:21682 | Rare female infertility due to an anomaly of ovarian function | -| GARD:21693 | Rare female infertility due to an anomaly of ovarian function of genetic origin | -| GARD:21684 | Rare female infertility due to an implantation defect | -| GARD:21683 | Rare female infertility due to gonadal dysgenesis | -| GARD:21678 | Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder | -| GARD:21691 | Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin | -| GARD:21718 | Rare female infertility due to oocyte maturation defect | -| GARD:18704 | Rare form of salmonellosis | -| GARD:22516 | Rare gastroenterologic disease | -| GARD:19786 | Rare gastroesophageal disease | -| GARD:20213 | Rare gastroesophageal tumor | -| GARD:20316 | Rare genetic adrenal disease | -| GARD:21802 | Rare genetic autonomic nervous system disorder | -| GARD:21730 | Rare genetic bone development disorder | -| GARD:20288 | Rare genetic bone disease | -| GARD:22150 | Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature | -| GARD:21921 | Rare genetic capillary malformation | -| GARD:19399 | Rare genetic cardiac disease | -| GARD:20010 | Rare genetic cause of hypertension | -| GARD:22187 | Rare genetic choroidal disorder | -| GARD:20319 | Rare genetic coagulation disorder | -| GARD:22174 | Rare genetic corneal disorder | -| GARD:19346 | Rare genetic deafness | -| GARD:20290 | Rare genetic developmental defect during embryogenesis | -| GARD:20312 | Rare genetic diabetes mellitus | -| GARD:22531 | Rare genetic disease | -| GARD:21288 | Rare genetic disease with myoclonus as a major feature | -| GARD:22185 | Rare genetic disorder involving multiple structures of the eye | -| GARD:22166 | Rare genetic disorder of the anterior segment of the eye | -| GARD:22163 | Rare genetic disorder of the lacrimal apparatus | -| GARD:22159 | Rare genetic disorder of the ocular adnexa | -| GARD:22181 | Rare genetic disorder of the posterior segment of the eye | -| GARD:22180 | Rare genetic disorder of the pupil | -| GARD:22149 | Rare genetic disorder of the visual organs | -| GARD:22168 | Rare genetic disorder with conjunctival involvement as a major feature | -| GARD:22175 | Rare genetic disorder with corneal involvement as a major feature | -| GARD:22162 | Rare genetic disorder with entropion | -| GARD:22169 | Rare genetic disorder with lens opacification | -| GARD:21689 | Rare genetic disorder with obstructive azoospermia | -| GARD:22156 | Rare genetic disorder with strabismus | -| GARD:21630 | Rare genetic dystonia | -| GARD:20011 | Rare genetic endocrine disease | -| GARD:20284 | Rare genetic epilepsy | -| GARD:19782 | Rare genetic eye disease | -| GARD:22161 | Rare genetic eyelid malposition disorder | -| GARD:21690 | Rare genetic female infertility | -| GARD:20059 | Rare genetic gastroenterological disease | -| GARD:20323 | Rare genetic gynecological and obstetrical diseases | -| GARD:20283 | Rare genetic headache | -| GARD:20030 | Rare genetic hematologic disease | -| GARD:20004 | Rare genetic hepatic disease | -| GARD:22013 | Rare genetic hyperkinetic movement disorder | -| GARD:20313 | Rare genetic hypothalamic or pituitary disease | -| GARD:20327 | Rare genetic immune disease | -| GARD:22179 | Rare genetic inflammatory/autoimmune corneal disorder | -| GARD:20325 | Rare genetic intellectual disability | -| GARD:22183 | Rare genetic macular disorder | -| GARD:21685 | Rare genetic male infertility | -| GARD:20285 | Rare genetic medullar disease | -| GARD:20287 | Rare genetic movement disorder | -| GARD:21287 | Rare genetic myoclonus | -| GARD:18915 | Rare genetic neurological disorder | -| GARD:22158 | Rare genetic neuromuscular disorder with ocular motility/alignment anomaly | -| GARD:22489 | Rare genetic nevus | -| GARD:22155 | Rare genetic ocular motility/alignment disorder | -| GARD:21748 | Rare genetic odontal or periodontal disorder | -| GARD:18936 | Rare genetic odontologic disease | -| GARD:22151 | Rare genetic ophthalmic disorder with cortical involvement | -| GARD:22152 | Rare genetic ophthalmic disorder with cranial nerve involvement | -| GARD:22153 | Rare genetic optic nerve disorder | -| GARD:22160 | Rare genetic palpebral disorder | -| GARD:20315 | Rare genetic parathyroid disease and phosphocalcic metabolism disorder | -| GARD:21283 | Rare genetic parkinsonian disorder | -| GARD:19400 | Rare genetic renal disease | -| GARD:20007 | Rare genetic respiratory disease | -| GARD:22182 | Rare genetic retinal disorder | -| GARD:22184 | Rare genetic retinal vasculopathy | -| GARD:18877 | Rare genetic skin disease | -| GARD:20326 | Rare genetic syndromic intellectual disability | -| GARD:21018 | Rare genetic systemic or rheumatologic disease | -| GARD:20314 | Rare genetic thyroid disease | -| GARD:21286 | Rare genetic tremor disorder | -| GARD:18875 | Rare genetic tumor | -| GARD:20008 | Rare genetic urogenital disease | -| GARD:20628 | Rare genetic vascular disease | -| GARD:21923 | Rare genetic vascular tumor | -| GARD:21924 | Rare genetic venous malformation | -| GARD:22514 | Rare gynecologic or obstetric disease | -| GARD:19407 | Rare gynecological tumor | -| GARD:19972 | Rare head and neck malformation | -| GARD:21163 | Rare head and neck tumor | -| GARD:19387 | Rare headache | -| GARD:22522 | Rare hematologic disease | -| GARD:19454 | Rare hemolytic anemia | -| GARD:20671 | Rare hemorrhagic disorder | -| GARD:20672 | Rare hemorrhagic disorder due to a coagulation factors defect | -| GARD:18873 | Rare hemorrhagic disorder due to a constitutional coagulation factors defect | -| GARD:18905 | Rare hemorrhagic disorder due to a constitutional platelet anomaly | -| GARD:21019 | Rare hemorrhagic disorder due to a constitutional thrombocytopenia | -| GARD:20673 | Rare hemorrhagic disorder due to a platelet anomaly | -| GARD:21020 | Rare hemorrhagic disorder due to a qualitative platelet defect | -| GARD:20093 | Rare hemorrhagic disorder due to an acquired coagulation factor defect | -| GARD:20675 | Rare hemorrhagic disorder due to an acquired platelet anomaly | -| GARD:19792 | Rare hepatic and biliary tract tumor | -| GARD:22506 | Rare hepatic disease | -| GARD:20286 | Rare hereditary ataxia | -| GARD:22459 | Rare hereditary connective tissue disease | -| GARD:21662 | Rare hereditary disease with avascular necrosis | -| GARD:12733 | Rare hereditary disease with peripheral neuropathy | -| GARD:20540 | Rare hereditary hemochromatosis | -| GARD:20382 | Rare hereditary metabolic disease with peripheral neuropathy | -| GARD:20384 | Rare hereditary neurologic disease with peripheral neuropathy | -| GARD:20383 | Rare hereditary systemic disease with peripheral neuropathy | -| GARD:20515 | Rare hereditary thrombophilia | -| GARD:21971 | Rare hypercholesterolemia | -| GARD:22008 | Rare hyperkinetic movement disorder | -| GARD:20229 | Rare hyperlipidemia | -| GARD:19515 | Rare hyperopia and astigmatism | -| GARD:20225 | Rare hyperparathyroidism | -| GARD:20222 | Rare hyperthyroidism | -| GARD:20518 | Rare hypertrophic cardiomyopathy | -| GARD:20228 | Rare hypoaldosteronism | -| GARD:20231 | Rare hypolipidemia | -| GARD:20224 | Rare hypoparathyroidism | -| GARD:20218 | Rare hypothalamic or pituitary disease | -| GARD:20221 | Rare hypothyroidism | -| GARD:21989 | Rare idiopathic macular telangiectasia | -| GARD:22523 | Rare immune disease | -| GARD:22508 | Rare inborn errors of metabolism | -| GARD:22509 | Rare infectious disease | -| GARD:22529 | Rare infertility | -| GARD:19849 | Rare inflammatory bowel disease | -| GARD:22091 | Rare inflammatory/autoimmune corneal disorder | -| GARD:20214 | Rare insulin-resistance syndrome | -| GARD:19090 | Rare intellectual disability | -| GARD:19873 | Rare intestinal disease | -| GARD:21258 | Rare intoxication due to medical products | -| GARD:16859 | Rare isolated myopia | -| GARD:19525 | Rare lens disease | -| GARD:12344 | Rare lichen planus | -| GARD:9789 | Rare lymphatic malformation | -| GARD:20463 | Rare lymphatic system anomaly | -| GARD:22102 | Rare macular disorder | -| GARD:19396 | Rare male infertility | -| GARD:21671 | Rare male infertility due to adrenal disorder | -| GARD:21687 | Rare male infertility due to adrenal disorder of genetic origin | -| GARD:21670 | Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder | -| GARD:21686 | Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin | -| GARD:21672 | Rare male infertility due to testicular endocrine disorder | -| GARD:12772 | Rare malignant breast tumor | -| GARD:21785 | Rare malignant epithelial tumor of liver and intrahepatic biliary tract | -| GARD:22507 | Rare maxillo-facial surgical disease | -| GARD:19790 | Rare metabolic liver disease | -| GARD:19817 | Rare movement disorder | -| GARD:20745 | Rare mucosal lichen planus | -| GARD:20047 | Rare mycosis | -| GARD:21274 | Rare myoclonus | -| GARD:21235 | Rare nail tumor | -| GARD:22535 | Rare neoplastic disease | -| GARD:19406 | Rare nervous system tumor | -| GARD:20240 | Rare neurodegenerative disease | -| GARD:20239 | Rare neuroinflammatory or neuroimmunological disease | -| GARD:22524 | Rare neurologic disease | -| GARD:19389 | Rare neurologic disease with psychiatric involvement | -| GARD:22118 | Rare neuromuscular disorder with ocular motility/alignment anomaly | -| GARD:21176 | Rare nevus | -| GARD:20624 | Rare non surgically correctable form of primary aldosteronism | -| GARD:20198 | Rare non-malformative breast disease | -| GARD:20197 | Rare non-malformative gynecologic or obstetric disease | -| GARD:20207 | Rare non-malformative uterine adnexal disease | -| GARD:20199 | Rare non-malformative uterovaginal or vulvovaginal disease | -| GARD:19783 | Rare non-syndromic intellectual disability | -| GARD:22122 | Rare ocular motility/alignment disorder | -| GARD:19544 | Rare oculomotor nerve disorder | -| GARD:20055 | Rare odontal or periodontal disorder | -| GARD:21370 | Rare odontogenic tumor | -| GARD:22526 | Rare odontologic disease | -| GARD:22520 | Rare ophthalmic disorder | -| GARD:22116 | Rare ophthalmic disorder with cortical involvement | -| GARD:22119 | Rare ophthalmic disorder with cranial nerve involvement | -| GARD:22120 | Rare optic nerve disorder | -| GARD:22528 | Rare otorhinolaryngologic disease | -| GARD:19405 | Rare otorhinolaryngologic tumor | -| GARD:19350 | Rare otorhinolaryngological malformation | -| GARD:19495 | Rare palpebral disorder | -| GARD:19787 | Rare pancreatic disease | -| GARD:20046 | Rare parasitic disease | -| GARD:18893 | Rare parathyroid disease and phosphocalcic metabolism anomaly | -| GARD:19764 | Rare parathyroid tumor | -| GARD:19789 | Rare parenchymal liver disease | -| GARD:18891 | Rare parkinsonian disorder | -| GARD:21284 | Rare parkinsonian syndrome due to genetic neurodegenerative disease | -| GARD:21263 | Rare parkinsonian syndrome due to intoxication | -| GARD:21261 | Rare parkinsonian syndrome due to neurodegenerative disease | -| GARD:21280 | Rare paroxysmal movement disorder | -| GARD:21997 | Rare pediatric rheumatologic disease | -| GARD:21082 | Rare pediatric systemic disease | -| GARD:21081 | Rare pediatric vasculitis | -| GARD:19476 | Rare peripheral neuropathy | -| GARD:20141 | Rare peripheral precocious puberty | -| GARD:20099 | Rare pervasive developmental disorder | -| GARD:19018 | Rare photodermatosis | -| GARD:7446 | Rare precocious puberty | -| GARD:20227 | Rare primary hyperaldosteronism | -| GARD:19793 | Rare pulmonary disease | -| GARD:18904 | Rare pulmonary hypertension | -| GARD:19514 | Rare refraction anomaly | -| GARD:22512 | Rare renal disease | -| GARD:19230 | Rare renal tubular disease | -| GARD:19233 | Rare renal tumor | -| GARD:22517 | Rare respiratory disease | -| GARD:19404 | Rare respiratory tumor | -| GARD:22103 | Rare retinal disorder | -| GARD:22104 | Rare retinal vasculopathy | -| GARD:20257 | Rare rheumatologic disease | -| GARD:22095 | Rare scleral disorder | -| GARD:22510 | Rare skin disease | -| GARD:19014 | Rare skin tumor or hamartoma | -| GARD:18879 | Rare sleep disorder | -| GARD:18907 | Rare soft tissue tumor | -| GARD:22519 | Rare surgical cardiac disease | -| GARD:22518 | Rare surgical thoracic disease | -| GARD:20623 | Rare surgically correctable form of primary aldosteronism | -| GARD:20003 | Rare syndrome with cardiac malformations | -| GARD:20232 | Rare syndromic dyslipidemia | -| GARD:19834 | Rare syndromic intellectual disability | -| GARD:22440 | Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome | -| GARD:20255 | Rare systemic disease | -| GARD:22525 | Rare systemic or rheumatologic disease | -| GARD:21079 | Rare systemic or rheumatological disease of childhood | -| GARD:22505 | Rare teratologic disease | -| GARD:20237 | Rare thrombotic disease of hematologic origin | -| GARD:20676 | Rare thrombotic disorder due to a coagulation factors defect | -| GARD:20677 | Rare thrombotic disorder due to a constitutional coagulation factors defect | -| GARD:20680 | Rare thrombotic disorder due to a constitutional platelet anomaly | -| GARD:20679 | Rare thrombotic disorder due to a platelet anomaly | -| GARD:20678 | Rare thrombotic disorder due to an acquired coagulation factors defect | -| GARD:20681 | Rare thrombotic disorder due to an acquired platelet anomaly | -| GARD:19799 | Rare thyroid disease | -| GARD:30000 | Rare to-be-classified GARD Diseases | -| GARD:21269 | Rare tremor disorder | -| GARD:22121 | Rare trochlear nerve disorder | -| GARD:19401 | Rare tumor | -| GARD:21256 | Rare tumor of gallbladder and extrahepatic biliary tract | -| GARD:19848 | Rare tumor of intestine | -| GARD:21257 | Rare tumor of liver and intrahepatic biliary tract | -| GARD:20703 | Rare tumor of neuroepithelial tissue | -| GARD:9364 | Rare tumor of pancreas | -| GARD:21042 | Rare tumor of salivary glands | -| GARD:21760 | Rare tumor of small intestine | -| GARD:19402 | Rare urinary tract tumor | -| GARD:22532 | Rare urogenital disease | -| GARD:20250 | Rare urogenital tumor | -| GARD:19012 | Rare urticaria | -| GARD:20201 | Rare uterine adnexal tumor | -| GARD:20469 | Rare uterine cancer | -| GARD:20188 | Rare vaginal malformation | -| GARD:20471 | Rare variants of adenocarcinoma of the corpus uteri | -| GARD:18881 | Rare vascular disease | -| GARD:19788 | Rare vascular liver disease | -| GARD:21917 | Rare vascular malformation of major vessels | -| GARD:20458 | Rare vascular tumor | -| GARD:20462 | Rare venous malformation | -| GARD:20045 | Rare viral disease | -| GARD:21145 | Rare virus associated tumor | -| GARD:20208 | Rare vulvovaginal tumor | -| GARD:18752 | Rasmussen subacute encephalitis | -| GARD:9557 | Rat-bite fever | -| GARD:3231 | Ravine syndrome | -| GARD:5693 | Reactive arthritis | -| GARD:17029 | Reading seizures | -| GARD:7904 | Recessive X-linked ichthyosis | -| GARD:16720 | Recessive dystrophic epidermolysis bullosa inversa | -| GARD:21083 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | -| GARD:19251 | Recessive mitochondrial ataxia syndrome | -| GARD:9698 | Recombinant 8 syndrome | -| GARD:20122 | Rectal duplication | -| GARD:17055 | Recurrent Neisseria infections due to factor D deficiency | -| GARD:19106 | Recurrent hepatitis C virus induced liver disease in liver transplant recipients | -| GARD:22040 | Recurrent idiopathic neuroretinitis | -| GARD:10778 | Recurrent infection due to specific granule deficiency | -| GARD:17086 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | -| GARD:13423 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | -| GARD:111 | Recurrent respiratory papillomatosis | -| GARD:12162 | Reducing body myopathy | -| GARD:15261 | Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset | -| GARD:15262 | Reducing body myopathy, x-linked 1b, with late childhood or adult onset | -| GARD:18688 | Reflex epilepsy | -| GARD:19585 | Refractory anemia | -| GARD:19070 | Refractory anemia with excess blasts | -| GARD:20108 | Refractory anemia with excess blasts in transformation | -| GARD:19737 | Refractory anemia with excess blasts type 1 | -| GARD:19738 | Refractory anemia with excess blasts type 2 | -| GARD:21640 | Refractory celiac disease | -| GARD:19069 | Refractory cytopenia with multilineage dysplasia | -| GARD:5691 | Refsum disease | -| GARD:19036 | Regional odontodysplasia | -| GARD:20612 | Regional variant of Guillain-Barré syndrome | -| GARD:17782 | Regressive spondylometaphyseal dysplasia | -| GARD:9276 | Reis-Bücklers corneal dystrophy | -| GARD:19726 | Relapsing epidemic typhus | -| GARD:19171 | Relapsing fever | -| GARD:7417 | Relapsing polychondritis | -| GARD:9228 | Renal agenesis | -| GARD:16579 | Renal agenesis, bilateral | -| GARD:16804 | Renal agenesis, unilateral | -| GARD:4655 | Renal caliceal diverticuli-deafness syndrome | -| GARD:13215 | Renal cell carcinoma | -| GARD:8417 | Renal cell carcinoma 4 | -| GARD:18445 | Renal cell carcinoma, xp11-associated | -| GARD:19986 | Renal ciliopathy | -| GARD:4106 | Renal coloboma syndrome | -| GARD:19530 | Renal disease with cataract | -| GARD:19173 | Renal dysplasia | -| GARD:19178 | Renal dysplasia, bilateral | -| GARD:19177 | Renal dysplasia, unilateral | -| GARD:19172 | Renal hypoplasia | -| GARD:19374 | Renal hypoplasia, bilateral | -| GARD:19373 | Renal hypoplasia, unilateral | -| GARD:13175 | Renal medullary carcinoma | -| GARD:11971 | Renal nutcracker syndrome | -| GARD:19216 | Renal or urinary tract malformation | -| GARD:9145 | Renal pseudohypoaldosteronism type 1 | -| GARD:15228 | Renal tubular acidosis iii | -| GARD:15229 | Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss | -| GARD:15350 | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | -| GARD:379 | Renal tubular dysgenesis | -| GARD:19377 | Renal tubular dysgenesis due to twin-twin transfusion | -| GARD:16854 | Renal tubular dysgenesis of genetic origin | -| GARD:17231 | Renal tubulopathy-encephalopathy-liver failure syndrome | -| GARD:17356 | Renal-hepatic-pancreatic dysplasia | -| GARD:18431 | Renal-hepatic-pancreatic dysplasia 1 | -| GARD:18432 | Renal-hepatic-pancreatic dysplasia 2 | -| GARD:16936 | Renin-angiotensin-aldosterone system-blocker-induced angioedema | -| GARD:9509 | Renpenning syndrome | -| GARD:22275 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha | -| GARD:18002 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta | -| GARD:16914 | Resistance to thyrotropin-releasing hormone syndrome | -| GARD:18942 | Respiratory bronchiolitis-interstitial lung disease syndrome | -| GARD:20249 | Respiratory malformation | -| GARD:19395 | Respiratory or mediastinal malformation | -| GARD:19385 | Respiratory or thoracic malformation | -| GARD:20531 | Restrictive cardiomyopathy | -| GARD:1516 | Restrictive dermopathy | -| GARD:8625 | Reticular dysgenesis | -| GARD:18239 | Reticular dystrophy of retinal pigment epithelium | -| GARD:16891 | Reticular dystrophy of the retinal pigment epithelium | -| GARD:19728 | Reticular perineurioma | -| GARD:17079 | Reticulate acropigmentation of Kitamura | -| GARD:21908 | Retiform hemangioendothelioma | -| GARD:15109 | Retinal aplasia | -| GARD:16693 | Retinal arterial tortuosity | -| GARD:18908 | Retinal capillary malformation | -| GARD:19987 | Retinal ciliopathy | -| GARD:19993 | Retinal ciliopathy due to mutation in Bardet-Biedl gene | -| GARD:19991 | Retinal ciliopathy due to mutation in Usher gene | -| GARD:19992 | Retinal ciliopathy due to mutation in nephronophthisis gene | -| GARD:19989 | Retinal ciliopathy due to mutation in the RPGR gene | -| GARD:19990 | Retinal ciliopathy due to mutation in the RPGRIP gene | -| GARD:19988 | Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | -| GARD:3196 | Retinal cone dystrophy 1 | -| GARD:10648 | Retinal cone dystrophy 3a | -| GARD:10650 | Retinal cone dystrophy 4 | -| GARD:395 | Retinal degeneration-nanophthalmos-glaucoma syndrome | -| GARD:17640 | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | -| GARD:18241 | Retinal dystrophy with or without extraocular anomalies | -| GARD:18240 | Retinal dystrophy, reticular pigmentary, of posterior pole | -| GARD:17411 | Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome | -| GARD:4635 | Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome | -| GARD:17467 | Retinal macular dystrophy type 2 | -| GARD:1217 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | -| GARD:5694 | Retinitis pigmentosa | -| GARD:9149 | Retinitis pigmentosa 1 | -| GARD:15110 | Retinitis pigmentosa 10 | -| GARD:10383 | Retinitis pigmentosa 11 | -| GARD:10376 | Retinitis pigmentosa 12 | -| GARD:10388 | Retinitis pigmentosa 13 | -| GARD:10385 | Retinitis pigmentosa 14 | -| GARD:10387 | Retinitis pigmentosa 17 | -| GARD:10392 | Retinitis pigmentosa 18 | -| GARD:10398 | Retinitis pigmentosa 19 | -| GARD:10380 | Retinitis pigmentosa 2 | -| GARD:10404 | Retinitis pigmentosa 20 | -| GARD:10393 | Retinitis pigmentosa 22 | -| GARD:10391 | Retinitis pigmentosa 23 | -| GARD:10389 | Retinitis pigmentosa 24 | -| GARD:10384 | Retinitis pigmentosa 25 | -| GARD:10397 | Retinitis pigmentosa 26 | -| GARD:15700 | Retinitis pigmentosa 27 | -| GARD:10394 | Retinitis pigmentosa 28 | -| GARD:10378 | Retinitis pigmentosa 29 | -| GARD:10381 | Retinitis pigmentosa 3 | -| GARD:10401 | Retinitis pigmentosa 30 | -| GARD:10396 | Retinitis pigmentosa 31 | -| GARD:10395 | Retinitis pigmentosa 32 | -| GARD:10400 | Retinitis pigmentosa 33 | -| GARD:10390 | Retinitis pigmentosa 34 | -| GARD:10402 | Retinitis pigmentosa 35 | -| GARD:10403 | Retinitis pigmentosa 36 | -| GARD:15508 | Retinitis pigmentosa 37 | -| GARD:15725 | Retinitis pigmentosa 38 | -| GARD:15715 | Retinitis pigmentosa 39 | -| GARD:10405 | Retinitis pigmentosa 4 | -| GARD:15709 | Retinitis pigmentosa 40 | -| GARD:10379 | Retinitis pigmentosa 41 | -| GARD:15593 | Retinitis pigmentosa 42 | -| GARD:15716 | Retinitis pigmentosa 43 | -| GARD:15705 | Retinitis pigmentosa 44 | -| GARD:15704 | Retinitis pigmentosa 45 | -| GARD:15571 | Retinitis pigmentosa 46 | -| GARD:15702 | Retinitis pigmentosa 47 | -| GARD:15720 | Retinitis pigmentosa 48 | -| GARD:15701 | Retinitis pigmentosa 49 | -| GARD:15629 | Retinitis pigmentosa 50 | -| GARD:15665 | Retinitis pigmentosa 51 | -| GARD:15662 | Retinitis pigmentosa 54 | -| GARD:15677 | Retinitis pigmentosa 55 | -| GARD:15678 | Retinitis pigmentosa 56 | -| GARD:15679 | Retinitis pigmentosa 57 | -| GARD:15682 | Retinitis pigmentosa 58 | -| GARD:15724 | Retinitis pigmentosa 59 | -| GARD:10377 | Retinitis pigmentosa 6 | -| GARD:15738 | Retinitis pigmentosa 60 | -| GARD:15766 | Retinitis pigmentosa 61 | -| GARD:15767 | Retinitis pigmentosa 62 | -| GARD:15810 | Retinitis pigmentosa 63 | -| GARD:15923 | Retinitis pigmentosa 66 | -| GARD:15988 | Retinitis pigmentosa 67 | -| GARD:16004 | Retinitis pigmentosa 68 | -| GARD:16011 | Retinitis pigmentosa 69 | -| GARD:10386 | Retinitis pigmentosa 7 | -| GARD:16032 | Retinitis pigmentosa 70 | -| GARD:16101 | Retinitis pigmentosa 71 | -| GARD:16119 | Retinitis pigmentosa 72 | -| GARD:16135 | Retinitis pigmentosa 73 | -| GARD:16138 | Retinitis pigmentosa 74 | -| GARD:16176 | Retinitis pigmentosa 75 | -| GARD:16196 | Retinitis pigmentosa 76 | -| GARD:16221 | Retinitis pigmentosa 77 | -| GARD:16229 | Retinitis pigmentosa 78 | -| GARD:16231 | Retinitis pigmentosa 79 | -| GARD:16252 | Retinitis pigmentosa 80 | -| GARD:15965 | Retinitis pigmentosa 82 with or without situs inversus | -| GARD:16298 | Retinitis pigmentosa 83 | -| GARD:16311 | Retinitis pigmentosa 84 | -| GARD:16342 | Retinitis pigmentosa 85 | -| GARD:16368 | Retinitis pigmentosa 86 | -| GARD:16374 | Retinitis pigmentosa 87 with choroidal involvement | -| GARD:16385 | Retinitis pigmentosa 88 | -| GARD:10382 | Retinitis pigmentosa 9 | -| GARD:15230 | Retinitis pigmentosa, late-adult onset | -| GARD:15310 | Retinitis pigmentosa, y-linked | -| GARD:4684 | Retinitis pigmentosa-deafness syndrome | -| GARD:17903 | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | -| GARD:4683 | Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome | -| GARD:17730 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | -| GARD:16655 | Retinitis punctata albescens | -| GARD:7563 | Retinoblastoma | -| GARD:5695 | Retinopathy of prematurity | -| GARD:15231 | Retinopathy, pericentral pigmentary, autosomal recessive | -| GARD:15111 | Retinopathy, pericentral pigmentary, dominant | -| GARD:5696 | Rett syndrome | -| GARD:15664 | Rett syndrome, congenital variant | -| GARD:12768 | Reversible cerebral vasoconstriction syndrome | -| GARD:4695 | Revesz syndrome | -| GARD:7570 | Reye syndrome | -| GARD:4697 | Reynolds syndrome | -| GARD:12916 | Rh deficiency syndrome | -| GARD:16275 | Rh-null, amorph type | -| GARD:7572 | Rhabdoid tumor | -| GARD:18318 | Rhabdoid tumor predisposition syndrome 1 | -| GARD:18319 | Rhabdoid tumor predisposition syndrome 2 | -| GARD:11951 | Rhabdomyosarcoma | -| GARD:20494 | Rhabdomyosarcoma of the cervix uteri | -| GARD:20475 | Rhabdomyosarcoma of the corpus uteri | -| GARD:5699 | Rheumatic fever | -| GARD:15232 | Rheumatic fever-related antigen | -| GARD:3931 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | -| GARD:19064 | Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis | -| GARD:13160 | Rhizomelic chondrodysplasia punctata | -| GARD:6049 | Rhizomelic chondrodysplasia punctata type 1 | -| GARD:9429 | Rhizomelic chondrodysplasia punctata type 2 | -| GARD:9682 | Rhizomelic chondrodysplasia punctata type 3 | -| GARD:13320 | Rhizomelic chondrodysplasia punctata type 5 | -| GARD:4703 | Rhizomelic dysplasia, Patterson-Lowry type | -| GARD:4705 | Rhizomelic syndrome, Urbach type | -| GARD:18855 | Rhombencephalosynapsis | -| GARD:9993 | Riboflavin transporter deficiency | -| GARD:17747 | Ribose-5-P isomerase deficiency | -| GARD:8423 | Richards-Rundle syndrome | -| GARD:4718 | Richieri Costa-Pereira syndrome | -| GARD:4709 | Richieri Costa-da Silva syndrome | -| GARD:22311 | Ricin poisoning | -| GARD:19827 | Rickettsial disease | -| GARD:19030 | Rickettsialpox | -| GARD:16482 | Rieger anomaly | -| GARD:21416 | Rift valley fever | -| GARD:19640 | Right aortic arch | -| GARD:19660 | Right inferior vena cava connecting to left-sided atrium | -| GARD:6795 | Right sided atrial isomerism | -| GARD:19653 | Right superior vena cava connecting to left-sided atrium | -| GARD:4723 | Rigid spine syndrome | -| GARD:21542 | Ring chromosome | -| GARD:1320 | Ring chromosome 1 syndrome | -| GARD:1322 | Ring chromosome 10 syndrome | -| GARD:10846 | Ring chromosome 11 syndrome | -| GARD:1325 | Ring chromosome 12 syndrome | -| GARD:6069 | Ring chromosome 13 syndrome | -| GARD:6072 | Ring chromosome 14 syndrome | -| GARD:1328 | Ring chromosome 15 syndrome | -| GARD:10855 | Ring chromosome 16 syndrome | -| GARD:4724 | Ring chromosome 17 syndrome | -| GARD:6077 | Ring chromosome 18 syndrome | -| GARD:1333 | Ring chromosome 19 syndrome | -| GARD:10837 | Ring chromosome 2 syndrome | -| GARD:1334 | Ring chromosome 20 syndrome | -| GARD:6083 | Ring chromosome 21 syndrome | -| GARD:1336 | Ring chromosome 22 syndrome | -| GARD:10839 | Ring chromosome 3 syndrome | -| GARD:1339 | Ring chromosome 4 syndrome | -| GARD:10841 | Ring chromosome 5 syndrome | -| GARD:6095 | Ring chromosome 6 syndrome | -| GARD:1345 | Ring chromosome 7 syndrome | -| GARD:1347 | Ring chromosome 8 syndrome | -| GARD:1348 | Ring chromosome 9 syndrome | -| GARD:20785 | Ring chromosome Y syndrome | -| GARD:9696 | Ring dermoid of cornea | -| GARD:4359 | Ringed hair disease | -| GARD:9164 | Rippling muscle disease | -| GARD:9165 | Rippling muscle disease 1 | -| GARD:20353 | Rippling muscle disease with myasthenia gravis | -| GARD:15160 | Ritscher-schinzel syndrome 1 | -| GARD:15278 | Ritscher-schinzel syndrome 2 | -| GARD:16426 | Ritscher-schinzel syndrome 3 | -| GARD:7387 | Roberts syndrome | -| GARD:4729 | Robin sequence-oligodactyly syndrome | -| GARD:312 | Robinow syndrome | -| GARD:2013 | Robinow syndrome, autosomal dominant 1 | -| GARD:18548 | Robinow syndrome, autosomal dominant 2 | -| GARD:18549 | Robinow syndrome, autosomal dominant 3 | -| GARD:4730 | Robinow-sorauf syndrome | -| GARD:4733 | Roch-Leri mesosomatous lipomatosis | -| GARD:7585 | Rocky Mountain spotted fever | -| GARD:9163 | Roifman syndrome | -| GARD:10287 | Rolandic epilepsy | -| GARD:18282 | Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked | -| GARD:17003 | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | -| GARD:17002 | Rolandic epilepsy-speech dyspraxia syndrome | -| GARD:3284 | Romano-Ward syndrome | -| GARD:4738 | Rombo syndrome | -| GARD:7588 | Rosaï-Dorfman disease | -| GARD:13593 | Rosette-forming glioneuronal tumor | -| GARD:4392 | Rothmund-Thomson syndrome | -| GARD:17134 | Rothmund-Thomson syndrome type 1 | -| GARD:17135 | Rothmund-Thomson syndrome type 2 | -| GARD:218 | Rotor syndrome | -| GARD:4741 | Roussy-Lévy syndrome | -| GARD:19043 | Rubella panencephalitis | -| GARD:7593 | Rubinstein-Taybi syndrome | -| GARD:10754 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | -| GARD:17534 | Rubinstein-Taybi syndrome due to CREBBP mutations | -| GARD:17535 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | -| GARD:4748 | Ruvalcaba syndrome | -| GARD:13177 | S-adenosylhomocysteine hydrolase deficiency | -| GARD:22463 | SAMD9L-associated autoinflammatory syndrome | -| GARD:7606 | SAPHO syndrome | -| GARD:22326 | SATB2-associated syndrome | -| GARD:17204 | SATB2-associated syndrome due to a chromosomal rearrangement | -| GARD:18013 | SATB2-associated syndrome due to a pathogenic variant | -| GARD:22491 | SBDS-related severe neonatal spondylometaphyseal dysplasia | -| GARD:21592 | SCALP syndrome | -| GARD:247 | SCARF syndrome | -| GARD:10302 | SERKAL syndrome | -| GARD:22397 | SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome | -| GARD:7633 | SHORT syndrome | -| GARD:17434 | SHOX-related short stature | -| GARD:21642 | SIM1-related Prader-Willi-like syndrome | -| GARD:17925 | SIN3A-related intellectual disability syndrome due to a point mutation | -| GARD:22001 | SIX2-related frontonasal dysplasia | -| GARD:12409 | SLC35A1-CDG | -| GARD:12403 | SLC35A2-CDG | -| GARD:12610 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | -| GARD:17846 | SLC39A8-CDG | -| GARD:21943 | SMARCA4-deficient sarcoma of thorax | -| GARD:957 | SPECC1L-related hypertelorism syndrome | -| GARD:4970 | SPONASTRIME dysplasia | -| GARD:12397 | SRD5A3-CDG | -| GARD:12405 | SSR4-CDG | -| GARD:17935 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | -| GARD:17737 | STAT3-related early-onset multisystem autoimmune disease | -| GARD:15006 | STAT5 Haploinsuffciency | -| GARD:12357 | STING-associated vasculopathy with onset in infancy | -| GARD:17602 | STT3A-CDG | -| GARD:17603 | STT3B-CDG | -| GARD:22404 | STXBP1-related encephalopathy | -| GARD:9257 | SUNCT syndrome | -| GARD:17616 | SURF1-related Charcot-Marie-Tooth disease type 4 | -| GARD:22232 | SYNGAP1-related developmental and epileptic encephalopathy | -| GARD:314 | Saccharopinuria | -| GARD:17642 | Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | -| GARD:319 | Sacrococcygeal teratoma | -| GARD:7598 | Saethre-Chotzen syndrome | -| GARD:21233 | Sagliker syndrome | -| GARD:8600 | Saldino-Mainzer syndrome | -| GARD:12774 | Salivary gland type cancer of the breast | -| GARD:4754 | Salla disease | -| GARD:2521 | Sandhoff disease | -| GARD:17405 | Sandhoff disease, adult form | -| GARD:7604 | Sandhoff disease, infantile form | -| GARD:17404 | Sandhoff disease, juvenile form | -| GARD:9684 | Sandifer syndrome | -| GARD:7071 | Sanfilippo syndrome type A | -| GARD:7072 | Sanfilippo syndrome type B | -| GARD:7073 | Sanfilippo syndrome type C | -| GARD:7074 | Sanfilippo syndrome type D | -| GARD:411 | Sanjad-Sakati syndrome | -| GARD:18848 | Sarcocystosis | -| GARD:7607 | Sarcoidosis | -| GARD:18594 | Sarcoidosis, susceptibility to, 1 | -| GARD:18595 | Sarcoidosis, susceptibility to, 2 | -| GARD:18596 | Sarcoidosis, susceptibility to, 3 | -| GARD:20493 | Sarcoma of cervix uteri | -| GARD:20476 | Sarcoma of the corpus uteri | -| GARD:158 | Sarcosinemia | -| GARD:160 | Satoyoshi syndrome | -| GARD:239 | Say-Barber-Miller syndrome | -| GARD:241 | Scalp defects-postaxial polydactyly syndrome | -| GARD:159 | Scalp-ear-nipple syndrome | -| GARD:10314 | Scapuloperoneal spinal muscular atrophy | -| GARD:19121 | Scarring in glaucoma filtration surgical procedures | -| GARD:21880 | Scedosporiosis | -| GARD:12561 | Scheie syndrome | -| GARD:2930 | Schilbach-Rott syndrome | -| GARD:16661 | Schilder disease | -| GARD:4984 | Schimke immuno-osseous dysplasia | -| GARD:117 | Schinzel-Giedion syndrome | -| GARD:246 | Schisis association | -| GARD:15112 | Schistosoma mansoni infection, susceptibility/resistance to | -| GARD:9687 | Schistosomiasis | -| GARD:166 | Schizencephaly | -| GARD:169 | Schneckenbecken dysplasia | -| GARD:12390 | Schnitzler syndrome | -| GARD:9277 | Schnyder corneal dystrophy | -| GARD:4768 | Schwannomatosis | -| GARD:16000 | Schwannomatosis 2 | -| GARD:250 | Schwartz-Jampel syndrome | -| GARD:16649 | Schöpf-Schulz-Passarge syndrome | -| GARD:18680 | Scimitar syndrome | -| GARD:5975 | Scleredema | -| GARD:18705 | Scleroderma | -| GARD:7615 | Scleromyxedema | -| GARD:19144 | Scleromyxedema without monoclonal gammopathy | -| GARD:21868 | Sclerosing cholangitis | -| GARD:19729 | Sclerosing perineurioma | -| GARD:4771 | Sclerosteosis | -| GARD:15233 | Sclerosteosis 1 | -| GARD:15786 | Sclerosteosis 2 | -| GARD:21939 | Scorpion envenomation | -| GARD:4777 | Scott syndrome | -| GARD:19035 | Scrub typhus | -| GARD:8241 | Sea-blue histiocytosis | -| GARD:19002 | Sebaceous gland anomaly | -| GARD:5003 | Sebocystomatosis | -| GARD:17039 | Seborrhea-like dermatitis with psoriasiform elements | -| GARD:8562 | Seckel syndrome | -| GARD:15143 | Seckel syndrome 1 | -| GARD:18484 | Seckel syndrome 10 | -| GARD:15399 | Seckel syndrome 2 | -| GARD:15687 | Seckel syndrome 4 | -| GARD:15719 | Seckel syndrome 5 | -| GARD:16013 | Seckel syndrome 8 | -| GARD:16158 | Seckel syndrome 9 | -| GARD:16968 | Second branchial cleft anomaly | -| GARD:21659 | Secondary avascular necrosis | -| GARD:20120 | Secondary central precocious puberty | -| GARD:22111 | Secondary early-onset glaucoma | -| GARD:22186 | Secondary early-onset glaucoma of genetic origin | -| GARD:19503 | Secondary ectropion | -| GARD:22201 | Secondary erythromelalgia | -| GARD:20026 | Secondary hemophagocytic lymphohistiocytosis | -| GARD:21396 | Secondary hypereosinophilic syndrome | -| GARD:19922 | Secondary hypoparathyroidism due to impaired parathormon secretion | -| GARD:20938 | Secondary interstitial lung disease in childhood and adulthood | -| GARD:20247 | Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease | -| GARD:20940 | Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease | -| GARD:20939 | Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease | -| GARD:20941 | Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis | -| GARD:20933 | Secondary interstitial lung disease specific to adulthood associated with a systemic disease | -| GARD:20927 | Secondary interstitial lung disease specific to childhood associated with a connective tissue disease | -| GARD:20929 | Secondary interstitial lung disease specific to childhood associated with a granulomatous disease | -| GARD:20930 | Secondary interstitial lung disease specific to childhood associated with a metabolic disease | -| GARD:20926 | Secondary interstitial lung disease specific to childhood associated with a systemic disease | -| GARD:20928 | Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis | -| GARD:19135 | Secondary intestinal lymphangiectasia | -| GARD:21643 | Secondary neonatal autoimmune disease | -| GARD:21661 | Secondary non-traumatic avascular necrosis | -| GARD:21831 | Secondary polyarteritis nodosa | -| GARD:19467 | Secondary polycythemia | -| GARD:21744 | Secondary pulmonary alveolar proteinosis | -| GARD:19713 | Secondary pulmonary hemosiderosis | -| GARD:21869 | Secondary sclerosing cholangitis | -| GARD:19258 | Secondary short bowel syndrome | -| GARD:19692 | Secondary syringomyelia | -| GARD:21863 | Secondary vasculitis | -| GARD:18872 | Segmental odontomaxillary dysplasia | -| GARD:19881 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | -| GARD:21384 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | -| GARD:856 | Seizures, benign familial infantile, 1 | -| GARD:16504 | Seizures, benign familial infantile, 2 | -| GARD:16521 | Seizures, benign familial infantile, 3 | -| GARD:16505 | Seizures, benign familial infantile, 4 | -| GARD:16506 | Seizures, benign familial infantile, 5 | -| GARD:15054 | Seizures, benign familial neonatal, 2 | -| GARD:15427 | Seizures, benign familial neonatal, 3 | -| GARD:15234 | Seizures, benign familial neonatal, autosomal recessive | -| GARD:16709 | Seizures-intellectual disability due to hydroxylysinuria syndrome | -| GARD:17836 | Seizures-scoliosis-macrocephaly syndrome | -| GARD:12547 | Selective IgM deficiency | -| GARD:22447 | Selective intrauterine growth restriction | -| GARD:19141 | Self-healing papular mucinosis | -| GARD:17303 | Self-improving collodion baby | -| GARD:10010 | Self-improving dystrophic epidermolysis bullosa | -| GARD:10792 | Semantic dementia | -| GARD:21745 | Semicircular canal dehiscence syndrome | -| GARD:17131 | Semilobar holoprosencephaly | -| GARD:16730 | Senior-Boichis syndrome | -| GARD:322 | Senior-Loken syndrome | -| GARD:15405 | Senior-loken syndrome 3 | -| GARD:15406 | Senior-loken syndrome 4 | -| GARD:15451 | Senior-loken syndrome 5 | -| GARD:15476 | Senior-loken syndrome 6 | -| GARD:15681 | Senior-loken syndrome 7 | -| GARD:16081 | Senior-loken syndrome 8 | -| GARD:16145 | Senior-loken syndrome 9 | -| GARD:17128 | Sensorineural deafness with dilated cardiomyopathy | -| GARD:18869 | Sensorineural hearing loss-early graying-essential tremor syndrome | -| GARD:9998 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | -| GARD:19105 | Sepsis in premature infants | -| GARD:20180 | Septate uterus | -| GARD:20189 | Septate vagina | -| GARD:7627 | Septo-optic dysplasia spectrum | -| GARD:16519 | Septooptic dysplasia | -| GARD:17289 | Septopreoptic holoprosencephaly | -| GARD:22334 | Serine biosynthesis pathway deficiency, infantile/juvenile form | -| GARD:22258 | Seromucinous cystadenoma of childhood | -| GARD:22253 | Seronegative autoimmune hepatitis | -| GARD:18828 | Serotonin syndrome | -| GARD:22055 | Serotonin-producing neuroendocrine tumor of pancreas | -| GARD:20481 | Serous carcinoma of the corpus uteri | -| GARD:21781 | Serous cystadenocarcinoma of pancreas | -| GARD:22256 | Serous cystadenoma of childhood | -| GARD:31 | Serpiginous choroiditis | -| GARD:20683 | Serpinopathy | -| GARD:20685 | Serpinopathy with loss of serpin function | -| GARD:20684 | Serpinopathy with toxic serpin polymerization | -| GARD:16982 | Serrated polyposis syndrome | -| GARD:17437 | Severe Canavan disease | -| GARD:5611 | Severe X-linked intellectual disability, Gustavson type | -| GARD:17171 | Severe X-linked mitochondrial encephalomyopathy | -| GARD:9443 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | -| GARD:9237 | Severe acute respiratory syndrome | -| GARD:17738 | Severe autosomal recessive macrothrombocytopenia | -| GARD:7628 | Severe combined immunodeficiency | -| GARD:17549 | Severe combined immunodeficiency due to CARD11 deficiency | -| GARD:17144 | Severe combined immunodeficiency due to CORO1A deficiency | -| GARD:17696 | Severe combined immunodeficiency due to CTPS1 deficiency | -| GARD:9987 | Severe combined immunodeficiency due to DCLRE1C deficiency | -| GARD:17441 | Severe combined immunodeficiency due to DNA-PKcs deficiency | -| GARD:4358 | Severe combined immunodeficiency due to FOXN1 deficiency | -| GARD:17641 | Severe combined immunodeficiency due to IKK2 deficiency | -| GARD:17938 | Severe combined immunodeficiency due to LAT deficiency | -| GARD:17288 | Severe combined immunodeficiency due to LCK deficiency | -| GARD:5748 | Severe combined immunodeficiency due to adenosine deaminase deficiency | -| GARD:10339 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | -| GARD:17364 | Severe congenital hypochromic anemia with ringed sideroblasts | -| GARD:12821 | Severe congenital nemaline myopathy | -| GARD:13592 | Severe congenital neutropenia | -| GARD:17594 | Severe dermatitis-multiple allergies-metabolic wasting syndrome | -| GARD:18811 | Severe disseminated cytomegalovirus infection in immunocompetent patients | -| GARD:21565 | Severe early-childhood-onset retinal dystrophy | -| GARD:19123 | Severe early-onset axonal neuropathy due to MFN2 deficiency | -| GARD:21486 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | -| GARD:17746 | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | -| GARD:2153 | Severe generalized junctional epidermolysis bullosa | -| GARD:17895 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | -| GARD:17059 | Severe hemophilia A | -| GARD:17056 | Severe hemophilia B | -| GARD:16544 | Severe hereditary thrombophilia due to congenital protein C deficiency | -| GARD:16543 | Severe hereditary thrombophilia due to congenital protein S deficiency | -| GARD:17840 | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | -| GARD:8689 | Severe immune-mediated enteropathy | -| GARD:10999 | Severe intellectual disability and progressive spastic paraplegia | -| GARD:17824 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | -| GARD:19247 | Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia | -| GARD:21817 | Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome | -| GARD:12815 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | -| GARD:13221 | Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome | -| GARD:3505 | Severe intellectual disability-progressive spastic diplegia syndrome | -| GARD:17611 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | -| GARD:21436 | Severe lateral tibial bowing with short stature | -| GARD:3482 | Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome | -| GARD:17592 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | -| GARD:17963 | Severe myopia-generalized joint laxity-short stature syndrome | -| GARD:21383 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | -| GARD:17629 | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency | -| GARD:17103 | Severe neonatal-onset encephalopathy with microcephaly | -| GARD:17552 | Severe neurodegenerative syndrome with lipodystrophy | -| GARD:17930 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | -| GARD:4050 | Severe oculo-renal-cerebellar syndrome | -| GARD:17682 | Severe phosphoribosylpyrophosphate synthetase superactivity | -| GARD:6447 | Severe primary trimethylaminuria | -| GARD:21476 | Sex chromosome disorder of sex development | -| GARD:21551 | Sex cord-stromal tumor of testis | -| GARD:19426 | Sex-chromosome anomaly | -| GARD:19427 | Sex-chromosome number anomaly | -| GARD:19428 | Sex-chromosome structural anomaly | -| GARD:7630 | Sheehan syndrome | -| GARD:16556 | Sheldon-Hall syndrome | -| GARD:6588 | Shiga toxin-associated hemolytic uremic syndrome | -| GARD:4818 | Shigellosis | -| GARD:19630 | Shone complex | -| GARD:1502 | Short bowel syndrome | -| GARD:4822 | Short chain acyl-CoA dehydrogenase deficiency | -| GARD:18868 | Short fifth metacarpals-insulin resistance syndrome | -| GARD:18633 | Short qt syndrome 1 | -| GARD:18634 | Short qt syndrome 2 | -| GARD:18635 | Short qt syndrome 3 | -| GARD:18726 | Short rib-polydactyly syndrome | -| GARD:17919 | Short rib-polydactyly syndrome type 5 | -| GARD:4832 | Short rib-polydactyly syndrome, Beemer-Langer type | -| GARD:4833 | Short rib-polydactyly syndrome, Majewski type | -| GARD:4834 | Short rib-polydactyly syndrome, Saldino-Noonan type | -| GARD:4835 | Short rib-polydactyly syndrome, Verma-Naumoff type | -| GARD:17436 | Short stature due to GHSR deficiency | -| GARD:408 | Short stature due to growth hormone qualitative anomaly | -| GARD:16538 | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia | -| GARD:17435 | Short stature due to partial GHR deficiency | -| GARD:16964 | Short stature due to primary acid-labile subunit deficiency | -| GARD:4838 | Short stature, Brussels type | -| GARD:18483 | Short stature, microcephaly, and endocrine dysfunction | -| GARD:17717 | Short stature-advanced bone age-early-onset osteoarthritis syndrome | -| GARD:17633 | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | -| GARD:17817 | Short stature-brachydactyly-obesity-global developmental delay syndrome | -| GARD:2605 | Short stature-craniofacial anomalies-genital hypoplasia syndrome | -| GARD:4841 | Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome | -| GARD:17068 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | -| GARD:17419 | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | -| GARD:10945 | Short stature-optic atrophy-Pelger-Huët anomaly syndrome | -| GARD:10604 | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | -| GARD:22350 | Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome | -| GARD:16612 | Short stature-valvular heart disease-characteristic facies syndrome | -| GARD:583 | Short stature-webbed neck-heart disease syndrome | -| GARD:4856 | Short stature-wormian bones-dextrocardia syndrome | -| GARD:296 | Short tarsus-absence of lower eyelashes syndrome | -| GARD:17548 | Short ulna-dysmorphism-hypotonia-intellectual disability syndrome | -| GARD:2988 | Short-limb skeletal dysplasia with severe combined immunodeficiency | -| GARD:15140 | Short-rib thoracic dysplasia 1 with or without polydactyly | -| GARD:15993 | Short-rib thoracic dysplasia 10 with or without polydactyly | -| GARD:15996 | Short-rib thoracic dysplasia 11 with or without polydactyly | -| GARD:16079 | Short-rib thoracic dysplasia 13 with or without polydactyly | -| GARD:18467 | Short-rib thoracic dysplasia 14 with polydactyly | -| GARD:16185 | Short-rib thoracic dysplasia 15 with polydactyly | -| GARD:16189 | Short-rib thoracic dysplasia 16 with or without polydactyly | -| GARD:15511 | Short-rib thoracic dysplasia 2 with or without polydactyly | -| GARD:15613 | Short-rib thoracic dysplasia 3 with or without polydactyly | -| GARD:15718 | Short-rib thoracic dysplasia 4 with or without polydactyly | -| GARD:15795 | Short-rib thoracic dysplasia 5 with or without polydactyly | -| GARD:15224 | Short-rib thoracic dysplasia 6 with or without polydactyly | -| GARD:15756 | Short-rib thoracic dysplasia 7 with or without polydactyly | -| GARD:15975 | Short-rib thoracic dysplasia 8 with or without polydactyly | -| GARD:15227 | Short-rib thoracic dysplasia 9 with or without polydactyly | -| GARD:4861 | Shprintzen-Goldberg syndrome | -| GARD:18511 | Shukla-vernon syndrome | -| GARD:4863 | Shwachman-Diamond syndrome | -| GARD:15221 | Shwachman-diamond syndrome 1 | -| GARD:16272 | Shwachman-diamond syndrome 2 | -| GARD:21331 | Sialidosis | -| GARD:7639 | Sialidosis type 1 | -| GARD:7183 | Sialidosis type 2 | -| GARD:4865 | Sialuria | -| GARD:18284 | Sick sinus syndrome 2 | -| GARD:18285 | Sick sinus syndrome 3, susceptibility to | -| GARD:8614 | Sickle cell anemia | -| GARD:21024 | Sickle cell disease and related diseases | -| GARD:12459 | Sickle cell disease associated with another hemoglobin anomaly | -| GARD:10333 | Sickle cell-beta-thalassemia disease syndrome | -| GARD:6584 | Sickle cell-hemoglobin C disease syndrome | -| GARD:12458 | Sickle cell-hemoglobin D disease syndrome | -| GARD:20700 | Sickle cell-hemoglobin E disease syndrome | -| GARD:18714 | Sideroblastic anemia | -| GARD:4867 | Siegler-Brewer-Carey syndrome | -| GARD:21392 | Silent pituitary adenoma | -| GARD:18910 | Silent sinus syndrome | -| GARD:4869 | Sillence syndrome | -| GARD:4870 | Silver-Russell syndrome | -| GARD:20605 | Silver-Russell syndrome due to 11p15 microduplication | -| GARD:20603 | Silver-Russell syndrome due to 7p11.2p13 microduplication | -| GARD:17628 | Silver-Russell syndrome due to a point mutation | -| GARD:20604 | Silver-Russell syndrome due to an imprinting defect of 11p15 | -| GARD:20606 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 | -| GARD:19334 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | -| GARD:18463 | Silver-russell syndrome 3 | -| GARD:18464 | Silver-russell syndrome 4 | -| GARD:18465 | Silver-russell syndrome 5 | -| GARD:6217 | Simple cryoglobulinemia | -| GARD:20460 | Simple vascular malformation | -| GARD:7649 | Simpson-Golabi-Behmel syndrome | -| GARD:19366 | Sinding-Larsen-Johansson disease | -| GARD:21832 | Single-organ polyarteritis nodosa | -| GARD:122 | Singleton-Merten dysplasia | -| GARD:16078 | Singleton-merten syndrome 2 | -| GARD:17484 | Sinoatrial node dysfunction and deafness | -| GARD:4880 | Sinus node disease and myopia | -| GARD:7652 | Sirenomelia | -| GARD:7653 | Sitosterolemia | -| GARD:16372 | Sitosterolemia 2 | -| GARD:20013 | Situs ambiguus | -| GARD:4883 | Situs inversus totalis | -| GARD:7654 | Sjögren-Larsson syndrome | -| GARD:6390 | Skeletal Ewing sarcoma | -| GARD:22070 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | -| GARD:350 | Skeletal dysplasia-epilepsy-short stature syndrome | -| GARD:19471 | Skeletal muscle disease | -| GARD:16156 | Skin creases, congenital symmetric circumferential, 2 | -| GARD:5231 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | -| GARD:19008 | Skin vascular disease | -| GARD:19197 | Slender bone dysplasia | -| GARD:11923 | Small cell carcinoma of the bladder | -| GARD:10411 | Small cell carcinoma of the ovary | -| GARD:9344 | Small cell lung cancer | -| GARD:5683 | Smith-Lemli-Opitz syndrome | -| GARD:8197 | Smith-Magenis syndrome | -| GARD:10620 | Smith-McCort dysplasia | -| GARD:15411 | Smith-mccort dysplasia 1 | -| GARD:15921 | Smith-mccort dysplasia 2 | -| GARD:20036 | Smoldering systemic mastocytosis | -| GARD:21881 | Snakebite envenomation | -| GARD:7664 | Sneddon syndrome | -| GARD:9706 | Snowflake vitreoretinal degeneration | -| GARD:17382 | Sodium channelopathy-related small fiber neuropathy | -| GARD:4898 | Soft tissue sarcoma | -| GARD:19353 | Solar urticaria | -| GARD:21780 | Solid pseudopapillary carcinoma of pancreas | -| GARD:20420 | Solid tumor associated with an acquired peripheral neuropathy | -| GARD:19039 | Solitary bone cyst | -| GARD:15014 | Solitary fibrous tumor/hemangiopericytoma | -| GARD:4877 | Solitary median maxillary central incisor | -| GARD:19743 | Solitary necrotic nodule of the liver | -| GARD:20444 | Solitary rectal ulcer syndrome | -| GARD:21391 | Somatomammotropinoma | -| GARD:4900 | Somatostatinoma | -| GARD:16850 | Somatotropic adenoma | -| GARD:10511 | Sorsby fundus dystrophy | -| GARD:16480 | Sorsby pseudoinflammatory fundus dystrophy | -| GARD:10091 | Sotos syndrome | -| GARD:15048 | Sotos syndrome | -| GARD:16867 | Southeast Asian ovalocytosis | -| GARD:21058 | Spasmus nutans | -| GARD:21401 | Spastic ataxia | -| GARD:16560 | Spastic ataxia with congenital miosis | -| GARD:3795 | Spastic ataxia-corneal dystrophy syndrome | -| GARD:22247 | Spastic ataxia-dysarthria due to glutaminase deficiency | -| GARD:18033 | Spastic paraparesis-cataracts-speech delay syndrome | -| GARD:5555 | Spastic paraparesis-deafness syndrome | -| GARD:15749 | Spastic paraplegia 47, autosomal recessive | -| GARD:15592 | Spastic paraplegia 50, autosomal recessive | -| GARD:13737 | Spastic paraplegia 51, autosomal recessive | -| GARD:15750 | Spastic paraplegia 52, autosomal recessive | -| GARD:4923 | Spastic paraplegia type 2 | -| GARD:4927 | Spastic paraplegia type 7 | -| GARD:21491 | Spastic paraplegia-Paget disease of bone syndrome | -| GARD:806 | Spastic paraplegia-facial-cutaneous lesions syndrome | -| GARD:4931 | Spastic paraplegia-glaucoma-intellectual disability syndrome | -| GARD:17957 | Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome | -| GARD:2342 | Spastic paraplegia-nephritis-deafness syndrome | -| GARD:4921 | Spastic paraplegia-neuropathy-poikiloderma syndrome | -| GARD:21797 | Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder | -| GARD:17479 | Spastic paraplegia-optic atrophy-neuropathy syndrome | -| GARD:4918 | Spastic paraplegia-precocious puberty syndrome | -| GARD:17816 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | -| GARD:4932 | Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome | -| GARD:13425 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | -| GARD:20118 | Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells | -| GARD:20456 | Specific language disorder | -| GARD:20455 | Specific learning disability | -| GARD:17516 | Spectrin-associated autosomal recessive cerebellar ataxia | -| GARD:16921 | Spermatocytic seminoma | -| GARD:15214 | Spermatogenic failure 1 | -| GARD:18401 | Spermatogenic failure 10 | -| GARD:15904 | Spermatogenic failure 11 | -| GARD:15960 | Spermatogenic failure 12 | -| GARD:16019 | Spermatogenic failure 13 | -| GARD:16020 | Spermatogenic failure 14 | -| GARD:16173 | Spermatogenic failure 15 | -| GARD:18402 | Spermatogenic failure 18 | -| GARD:18403 | Spermatogenic failure 19 | -| GARD:15041 | Spermatogenic failure 2 | -| GARD:18404 | Spermatogenic failure 20 | -| GARD:16245 | Spermatogenic failure 22 | -| GARD:16246 | Spermatogenic failure 23 | -| GARD:16274 | Spermatogenic failure 25 | -| GARD:18405 | Spermatogenic failure 27 | -| GARD:16290 | Spermatogenic failure 28 | -| GARD:18399 | Spermatogenic failure 3 | -| GARD:16291 | Spermatogenic failure 30 | -| GARD:16292 | Spermatogenic failure 32 | -| GARD:18406 | Spermatogenic failure 33 | -| GARD:18407 | Spermatogenic failure 34 | -| GARD:18408 | Spermatogenic failure 37 | -| GARD:18409 | Spermatogenic failure 38 | -| GARD:18410 | Spermatogenic failure 39 | -| GARD:15235 | Spermatogenic failure 4 | -| GARD:18411 | Spermatogenic failure 40 | -| GARD:18412 | Spermatogenic failure 41 | -| GARD:18413 | Spermatogenic failure 42 | -| GARD:18414 | Spermatogenic failure 43 | -| GARD:16420 | Spermatogenic failure 48 | -| GARD:16436 | Spermatogenic failure 52 | -| GARD:15032 | Spermatogenic failure 6 | -| GARD:18400 | Spermatogenic failure 7 | -| GARD:15734 | Spermatogenic failure 8 | -| GARD:15735 | Spermatogenic failure 9 | -| GARD:8406 | Spermatogenic failure, x-linked, 1 | -| GARD:15302 | Spermatogenic failure, x-linked, 2 | -| GARD:18503 | Spermatogenic failure, y-linked, 1 | -| GARD:18504 | Spermatogenic failure, y-linked, 2 | -| GARD:16149 | Spherocytosis, type 2 | -| GARD:15236 | Spherocytosis, type 3 | -| GARD:15576 | Spherocytosis, type 4 | -| GARD:15578 | Spherocytosis, type 5 | -| GARD:8711 | Spheroid body myopathy | -| GARD:7672 | Sphingolipidosis | -| GARD:21615 | Sphingolipidosis with epilepsy | -| GARD:21371 | Spigelian hernia-cryptorchidism syndrome | -| GARD:20951 | Spina bifida aperta | -| GARD:20958 | Spina bifida cystica | -| GARD:4940 | Spina bifida-hypospadias syndrome | -| GARD:15113 | Spinal arachnoiditis | -| GARD:11892 | Spinal arteriovenous metameric syndrome | -| GARD:4942 | Spinal atrophy-ophthalmoplegia-pyramidal syndrome | -| GARD:19109 | Spinal cord injury | -| GARD:9701 | Spinal intradural arachnoid cysts | -| GARD:20381 | Spinal muscular atrophy associated with central nervous system anomaly | -| GARD:4947 | Spinal muscular atrophy with congenital bone fractures 1 | -| GARD:18495 | Spinal muscular atrophy with congenital bone fractures 2 | -| GARD:8592 | Spinal muscular atrophy with respiratory distress type 1 | -| GARD:21723 | Spinal muscular atrophy with respiratory distress type 2 | -| GARD:18443 | Spinal muscular atrophy, distal, autosomal recessive, 5 | -| GARD:18922 | Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome | -| GARD:3875 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | -| GARD:20452 | Spindle cell hemangioma | -| GARD:4071 | Spinocerebellar ataxia type 1 | -| GARD:10474 | Spinocerebellar ataxia type 10 | -| GARD:10475 | Spinocerebellar ataxia type 11 | -| GARD:10476 | Spinocerebellar ataxia type 12 | -| GARD:9611 | Spinocerebellar ataxia type 13 | -| GARD:9867 | Spinocerebellar ataxia type 14 | -| GARD:10477 | Spinocerebellar ataxia type 15/16 | -| GARD:10469 | Spinocerebellar ataxia type 17 | -| GARD:9976 | Spinocerebellar ataxia type 18 | -| GARD:12365 | Spinocerebellar ataxia type 19/22 | -| GARD:4072 | Spinocerebellar ataxia type 2 | -| GARD:9997 | Spinocerebellar ataxia type 20 | -| GARD:9999 | Spinocerebellar ataxia type 21 | -| GARD:9950 | Spinocerebellar ataxia type 23 | -| GARD:9996 | Spinocerebellar ataxia type 25 | -| GARD:9995 | Spinocerebellar ataxia type 26 | -| GARD:9963 | Spinocerebellar ataxia type 27 | -| GARD:9951 | Spinocerebellar ataxia type 28 | -| GARD:10480 | Spinocerebellar ataxia type 29 | -| GARD:6801 | Spinocerebellar ataxia type 3 | -| GARD:4950 | Spinocerebellar ataxia type 30 | -| GARD:9975 | Spinocerebellar ataxia type 31 | -| GARD:17276 | Spinocerebellar ataxia type 32 | -| GARD:59 | Spinocerebellar ataxia type 34 | -| GARD:12366 | Spinocerebellar ataxia type 35 | -| GARD:12367 | Spinocerebellar ataxia type 36 | -| GARD:12368 | Spinocerebellar ataxia type 37 | -| GARD:12369 | Spinocerebellar ataxia type 38 | -| GARD:9970 | Spinocerebellar ataxia type 4 | -| GARD:12371 | Spinocerebellar ataxia type 40 | -| GARD:17810 | Spinocerebellar ataxia type 41 | -| GARD:17811 | Spinocerebellar ataxia type 42 | -| GARD:17917 | Spinocerebellar ataxia type 43 | -| GARD:22353 | Spinocerebellar ataxia type 45 | -| GARD:22352 | Spinocerebellar ataxia type 46 | -| GARD:4953 | Spinocerebellar ataxia type 5 | -| GARD:10351 | Spinocerebellar ataxia type 6 | -| GARD:4955 | Spinocerebellar ataxia type 7 | -| GARD:4956 | Spinocerebellar ataxia type 8 | -| GARD:10000 | Spinocerebellar ataxia with axonal neuropathy type 1 | -| GARD:12860 | Spinocerebellar ataxia with axonal neuropathy type 2 | -| GARD:17229 | Spinocerebellar ataxia with epilepsy | -| GARD:15389 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | -| GARD:4958 | Spinocerebellar ataxia-dysmorphism syndrome | -| GARD:1525 | Spinocerebellar degeneration-corneal dystrophy syndrome | -| GARD:19701 | Spirillary rat-bite fever | -| GARD:21248 | Splenic diffuse red pulp small B-cell lymphoma | -| GARD:19072 | Splenic marginal zone lymphoma | -| GARD:4963 | Splenogonadal fusion-limb defects-micrognathia syndrome | -| GARD:22317 | Split cord malformation | -| GARD:1851 | Split cord malformation type I | -| GARD:22316 | Split cord malformation type II | -| GARD:16686 | Split hand-split foot-deafness syndrome | -| GARD:17889 | Split-foot malformation-mesoaxial polydactyly syndrome | -| GARD:15308 | Split-hand/foot malformation 2 | -| GARD:15193 | Split-hand/foot malformation 3 | -| GARD:15378 | Split-hand/foot malformation 4 | -| GARD:15398 | Split-hand/foot malformation 5 | -| GARD:15166 | Split-hand/foot malformation 6 | -| GARD:15050 | Split-hand/foot malformation with long bone deficiency 1 | -| GARD:15492 | Split-hand/foot malformation with long bone deficiency 2 | -| GARD:17154 | Spondylo-megaepiphyseal-metaphyseal dysplasia | -| GARD:16740 | Spondylo-ocular syndrome | -| GARD:4972 | Spondylocamptodactyly syndrome | -| GARD:4974 | Spondylocarpotarsal synostosis | -| GARD:10726 | Spondylocostal dysostosis 1, autosomal recessive | -| GARD:9703 | Spondylocostal dysostosis 2, autosomal recessive | -| GARD:4973 | Spondylocostal dysostosis 3, autosomal recessive | -| GARD:4976 | Spondylocostal dysostosis 4, autosomal recessive | -| GARD:12807 | Spondylocostal dysostosis 6, autosomal recessive | -| GARD:22214 | Spondylodysplastic Ehlers-Danlos syndrome | -| GARD:19193 | Spondylodysplastic dysplasia | -| GARD:4978 | Spondyloenchondrodysplasia | -| GARD:134 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type | -| GARD:4982 | Spondyloepimetaphyseal dysplasia with joint laxity | -| GARD:16348 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | -| GARD:9866 | Spondyloepimetaphyseal dysplasia with multiple dislocations | -| GARD:10057 | Spondyloepimetaphyseal dysplasia, Geneviève type | -| GARD:10741 | Spondyloepimetaphyseal dysplasia, Handigodu type | -| GARD:16819 | Spondyloepimetaphyseal dysplasia, Irapa type | -| GARD:21586 | Spondyloepimetaphyseal dysplasia, Isidor type | -| GARD:10618 | Spondyloepimetaphyseal dysplasia, Missouri type | -| GARD:16813 | Spondyloepimetaphyseal dysplasia, PAPSS2 type | -| GARD:4980 | Spondyloepimetaphyseal dysplasia, Shohat type | -| GARD:10513 | Spondyloepimetaphyseal dysplasia, aggrecan type | -| GARD:10611 | Spondyloepimetaphyseal dysplasia, matrilin-3 type | -| GARD:17030 | Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome | -| GARD:10101 | Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome | -| GARD:10616 | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | -| GARD:7687 | Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia | -| GARD:4987 | Spondyloepiphyseal dysplasia congenita | -| GARD:10624 | Spondyloepiphyseal dysplasia tarda | -| GARD:16995 | Spondyloepiphyseal dysplasia tarda, Kohn type | -| GARD:15114 | Spondyloepiphyseal dysplasia tarda, autosomal dominant | -| GARD:15237 | Spondyloepiphyseal dysplasia tarda, autosomal recessive | -| GARD:4985 | Spondyloepiphyseal dysplasia tarda, x-linked | -| GARD:10220 | Spondyloepiphyseal dysplasia with metatarsal shortening | -| GARD:16814 | Spondyloepiphyseal dysplasia, Kimberley type | -| GARD:16996 | Spondyloepiphyseal dysplasia, MacDermot type | -| GARD:994 | Spondyloepiphyseal dysplasia, Maroteaux type | -| GARD:16994 | Spondyloepiphyseal dysplasia, Reardon type | -| GARD:17812 | Spondyloepiphyseal dysplasia, Stanescu type | -| GARD:10629 | Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome | -| GARD:16993 | Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome | -| GARD:18025 | Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome | -| GARD:18685 | Spondylometaphyseal dysplasia | -| GARD:4991 | Spondylometaphyseal dysplasia, 'corner fracture' type | -| GARD:458 | Spondylometaphyseal dysplasia, A4 type | -| GARD:21587 | Spondylometaphyseal dysplasia, Czarny-Ratajczak type | -| GARD:8343 | Spondylometaphyseal dysplasia, Golden type | -| GARD:3047 | Spondylometaphyseal dysplasia, Kozlowski type | -| GARD:504 | Spondylometaphyseal dysplasia, Schmidt type | -| GARD:4993 | Spondylometaphyseal dysplasia, Sedaghatian type | -| GARD:8719 | Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome | -| GARD:10647 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | -| GARD:18016 | Spondylometaphyseal dysplasia-corneal dystrophy syndrome | -| GARD:4994 | Spondyloperipheral dysplasia-short ulna syndrome | -| GARD:21854 | Spontaneous intracranial hypotension | -| GARD:4815 | Spontaneous periodic hypothermia | -| GARD:6956 | Sporadic Creutzfeldt-Jakob disease | -| GARD:20654 | Sporadic adult-onset ataxia of unknown etiology | -| GARD:22349 | Sporadic fatal insomnia | -| GARD:18734 | Sporadic fetal brain disruption sequence | -| GARD:22327 | Sporadic human prion disease | -| GARD:21282 | Sporadic hyperekplexia | -| GARD:20549 | Sporadic infantile bilateral striatal necrosis | -| GARD:7385 | Sporadic pheochromocytoma/secreting paraganglioma | -| GARD:17749 | Sporadic porphyria cutanea tarda | -| GARD:7692 | Sporotrichosis | -| GARD:19828 | Spotted fever rickettsiosis | -| GARD:7693 | Sprengel deformity | -| GARD:21792 | Squamous cell carcinoma of gallbladder and extrahepatic biliary tract | -| GARD:21789 | Squamous cell carcinoma of liver and intrahepatic biliary tract | -| GARD:22046 | Squamous cell carcinoma of oral cavity and lip | -| GARD:21776 | Squamous cell carcinoma of pancreas | -| GARD:17929 | Squamous cell carcinoma of salivary glands | -| GARD:21774 | Squamous cell carcinoma of the anal canal | -| GARD:20487 | Squamous cell carcinoma of the cervix uteri | -| GARD:21768 | Squamous cell carcinoma of the colon | -| GARD:20479 | Squamous cell carcinoma of the corpus uteri | -| GARD:18901 | Squamous cell carcinoma of the esophagus | -| GARD:17907 | Squamous cell carcinoma of the hypopharynx | -| GARD:17908 | Squamous cell carcinoma of the larynx | -| GARD:17933 | Squamous cell carcinoma of the lip | -| GARD:17927 | Squamous cell carcinoma of the nasal cavity and paranasal sinuses | -| GARD:17932 | Squamous cell carcinoma of the oral cavity | -| GARD:17928 | Squamous cell carcinoma of the oropharynx | -| GARD:21639 | Squamous cell carcinoma of the penis | -| GARD:21770 | Squamous cell carcinoma of the rectum | -| GARD:21764 | Squamous cell carcinoma of the small intestine | -| GARD:21743 | Squamous cell carcinoma of the stomach | -| GARD:19041 | St. Louis encephalitis | -| GARD:12631 | Stapes ankylosis with broad thumbs and toes | -| GARD:18821 | Staphylococcal necrotizing pneumonia | -| GARD:13158 | Staphylococcal scalded skin syndrome | -| GARD:18819 | Staphylococcal scarlet fever | -| GARD:21239 | Staphylococcal toxemia | -| GARD:19710 | Staphylococcal toxic-shock syndrome | -| GARD:181 | Stargardt disease | -| GARD:15314 | Stargardt disease 3 | -| GARD:15359 | Stargardt disease 4 | -| GARD:20081 | Startle epilepsy | -| GARD:5004 | Steatocystoma multiplex-natal teeth syndrome | -| GARD:17735 | Steel syndrome | -| GARD:8310 | Steinert myotonic dystrophy | -| GARD:10516 | Sterile multifocal osteomyelitis with periostitis and pustulosis | -| GARD:5012 | Sternal cleft | -| GARD:5015 | Steroid dehydrogenase deficiency-dental anomalies syndrome | -| GARD:8570 | Steroid-responsive encephalopathy associated with autoimmune thyroiditis | -| GARD:18969 | Sterol biosynthesis disorder | -| GARD:18981 | Sterol metabolism disorder | -| GARD:20558 | Sterol metabolism disorder with epilepsy | -| GARD:7700 | Stevens-Johnson syndrome | -| GARD:22066 | Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome | -| GARD:7743 | Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum | -| GARD:10782 | Stickler syndrome | -| GARD:5018 | Stickler syndrome type 1 | -| GARD:5020 | Stickler syndrome type 2 | -| GARD:15461 | Stickler syndrome, type i, nonsyndromic ocular | -| GARD:18358 | Stickler syndrome, type iv | -| GARD:18359 | Stickler syndrome, type v | -| GARD:5023 | Stiff person spectrum disorder | -| GARD:5025 | Stiff skin syndrome | -| GARD:5026 | Stimmler syndrome | -| GARD:5188 | Stormorken-Sjaastad-Langslet syndrome | -| GARD:19631 | Straddling and/or overriding mitral valve | -| GARD:19263 | Straddling or overriding tricuspid valve | -| GARD:19702 | Streptobacillary rat-bite fever | -| GARD:19709 | Streptococcal toxic-shock syndrome | -| GARD:22235 | Streptococcus pneumoniae-associated hemolytic uremic syndrome | -| GARD:15016 | Striate palmoplantar keratoderma | -| GARD:18315 | Striatonigral degeneration, infantile, mitochondrial | -| GARD:19519 | Stromal corneal dystrophy | -| GARD:17945 | Stromme syndrome | -| GARD:8195 | Strongyloidiasis | -| GARD:22082 | Structural developmental eye defect | -| GARD:22165 | Structural developmental eye defect of genetic origin | -| GARD:7706 | Sturge-Weber syndrome | -| GARD:5045 | Stüve-Wiedemann syndrome | -| GARD:19775 | Sub-cortical nodular heterotopia | -| GARD:20042 | Subacute cutaneous lupus erythematosus | -| GARD:20355 | Subacute inflammatory demyelinating polyneuropathy | -| GARD:7708 | Subacute sclerosing leukoencephalitis | -| GARD:19656 | Subaortic course of innominate vein | -| GARD:18242 | Subaortic stenosis, membranous | -| GARD:405 | Subaortic stenosis-short stature syndrome | -| GARD:13606 | Subcorneal pustular dermatosis | -| GARD:1904 | Subcortical band heterotopia | -| GARD:10193 | Subcutaneous panniculitis-like T-cell lymphoma | -| GARD:19011 | Subcutaneous tissue disease | -| GARD:10632 | Subependymal giant cell astrocytoma | -| GARD:5050 | Subependymal nodular heterotopia | -| GARD:10070 | Subependymoma | -| GARD:16878 | Subepithelial mucinous corneal dystrophy | -| GARD:19976 | Submucosal cleft palate | -| GARD:5051 | Subpulmonary stenosis | -| GARD:7695 | Succinic semialdehyde dehydrogenase deficiency | -| GARD:4774 | Succinyl-CoA:3-oxoacid CoA transferase deficiency | -| GARD:12382 | Sudden infant death-dysgenesis of the testes syndrome | -| GARD:5058 | Sugarman brachydactyly | -| GARD:19188 | Sulfation-related bone disorder | -| GARD:3705 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency | -| GARD:17386 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | -| GARD:17387 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | -| GARD:17388 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | -| GARD:127 | Summitt syndrome | -| GARD:19518 | Superficial corneal dystrophy | -| GARD:2966 | Superficial epidermolytic ichthyosis | -| GARD:20328 | Superficial fibromatosis | -| GARD:18833 | Superficial pemphigus | -| GARD:9484 | Superficial siderosis | -| GARD:10940 | Superior limbic keratoconjunctivitis | -| GARD:7712 | Superior mesenteric artery syndrome | -| GARD:20195 | Supernumerary breasts | -| GARD:19946 | Supernumerary nostril | -| GARD:19546 | Supranuclear eye movement disorder | -| GARD:18344 | Supranuclear palsy, progressive, 2 | -| GARD:18345 | Supranuclear palsy, progressive, 3 | -| GARD:21941 | Supratip dysplasia | -| GARD:743 | Supravalvular aortic stenosis | -| GARD:4594 | Supravalvular pulmonary stenosis | -| GARD:15263 | Surfactant metabolism dysfunction, pulmonary, 4 | -| GARD:15793 | Surfactant metabolism dysfunction, pulmonary, 5 | -| GARD:7713 | Susac syndrome | -| GARD:17514 | Susceptibility to infection due to TYK2 deficiency | -| GARD:21865 | Susceptibility to localized juvenile periodontitis | -| GARD:17047 | Susceptibility to respiratory infections associated with CD8alpha chain mutation | -| GARD:17612 | Susceptibility to viral and mycobacterial infections due to STAT1 deficiency | -| GARD:521 | Sweet syndrome | -| GARD:7716 | Sydenham chorea | -| GARD:1680 | Symbrachydactyly of hands and feet | -| GARD:5070 | Symmetrical thalamic calcifications | -| GARD:18939 | Sympathetic ophthalmia | -| GARD:5077 | Symphalangism with multiple anomalies of hands and feet | -| GARD:15942 | Symphalangism, proximal, 1b | -| GARD:21057 | Symptomatic form of Coffin-Lowry syndrome in female carriers | -| GARD:22439 | Symptomatic form of X-linked centronuclear myopathy in female carriers | -| GARD:17783 | Symptomatic form of fragile X syndrome in female carriers | -| GARD:10417 | Symptomatic form of hemochromatosis type 1 | -| GARD:20350 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | -| GARD:16872 | Synaptic congenital myasthenic syndromes | -| GARD:5081 | Syndactyly type 1 | -| GARD:5087 | Syndactyly type 2 | -| GARD:5088 | Syndactyly type 3 | -| GARD:4434 | Syndactyly type 4 | -| GARD:5089 | Syndactyly type 5 | -| GARD:21201 | Syndactyly type 6 | -| GARD:3559 | Syndactyly type 8 | -| GARD:17551 | Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome | -| GARD:21175 | Syndactyly-nystagmus syndrome due to 2q31.1 microduplication | -| GARD:5090 | Syndactyly-polydactyly-ear lobe syndrome | -| GARD:10295 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | -| GARD:20529 | Syndrome associated with dilated cardiomyopathy | -| GARD:20523 | Syndrome associated with hypertrophic cardiomyopathy | -| GARD:22390 | Syndrome of reduced sensitivity to thyroid hormone | -| GARD:19998 | Syndrome or malformation associated with head and neck malformations | -| GARD:21467 | Syndrome with 46,XX disorder of sex development | -| GARD:19411 | Syndrome with 46,XY disorder of sex development | -| GARD:21002 | Syndrome with a Dandy-Walker malformation as a major feature | -| GARD:19866 | Syndrome with a central nervous system malformation as a major feature | -| GARD:20999 | Syndrome with a cerebellar malformation as a major feature | -| GARD:20627 | Syndrome with alpha-thalassemia as a major feature | -| GARD:21510 | Syndrome with combined immunodeficiency | -| GARD:20339 | Syndrome with corpus callosum agenesis/dysgenesis as a major feature | -| GARD:21479 | Syndrome with disorder of sex development of gynecological interest | -| GARD:20223 | Syndrome with hypoparathyroidism | -| GARD:21188 | Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy | -| GARD:19871 | Syndrome with limb malformations as a major feature | -| GARD:21186 | Syndrome with limb reduction defects | -| GARD:21000 | Syndrome with microcephaly as a major feature | -| GARD:21036 | Syndrome with pulmonary hypertension as a major feature | -| GARD:19212 | Syndrome with synostosis or other joint formation defect | -| GARD:21803 | Syndrome with woolly hair | -| GARD:9156 | Syndromic X-linked intellectual disability 7 | -| GARD:20596 | Syndromic agammaglobulinemia | -| GARD:19494 | Syndromic aniridia | -| GARD:19499 | Syndromic ankyloblepharon filiforme adnatum | -| GARD:19874 | Syndromic anorectal malformation | -| GARD:22148 | Syndromic autoimmune enteropathy | -| GARD:22019 | Syndromic biliary atresia | -| GARD:20196 | Syndromic breast hypoplasia/aplasia | -| GARD:19527 | Syndromic cataract | -| GARD:22106 | Syndromic chorioretinal dystrophy | -| GARD:22262 | Syndromic congenital sodium diarrhea | -| GARD:21967 | Syndromic constitutional thrombocytopenia | -| GARD:19521 | Syndromic corneal dystrophy | -| GARD:19911 | Syndromic craniosynostosis | -| GARD:19864 | Syndromic diaphragmatic or abdominal wall malformation | -| GARD:20212 | Syndromic diaphragmatic or thoracic malformation | -| GARD:5258 | Syndromic diarrhea | -| GARD:19542 | Syndromic disorder with strabismus | -| GARD:22092 | Syndromic ectopia lentis | -| GARD:19504 | Syndromic epicanthus | -| GARD:19856 | Syndromic esophageal malformation | -| GARD:19500 | Syndromic eyelid coloboma | -| GARD:19858 | Syndromic gastroduodenal malformation | -| GARD:22170 | Syndromic genetic cataract | -| GARD:19145 | Syndromic genetic deafness | -| GARD:22157 | Syndromic genetic disorder with strabismus | -| GARD:22173 | Syndromic genetic ectopia lentis | -| GARD:22178 | Syndromic genetic keratoconus | -| GARD:18998 | Syndromic hair shaft abnormality | -| GARD:21845 | Syndromic hereditary optic neuropathy | -| GARD:19516 | Syndromic hyperopia | -| GARD:20137 | Syndromic hypothyroidism | -| GARD:22108 | Syndromic inherited retinal disorder | -| GARD:19860 | Syndromic intestinal malformation | -| GARD:19517 | Syndromic keratoconus | -| GARD:22083 | Syndromic lacrimal system disorder | -| GARD:22107 | Syndromic macular dystrophy | -| GARD:3692 | Syndromic microphthalmia type 5 | -| GARD:20342 | Syndromic microphthalmia-anophthalmia-coloboma | -| GARD:22093 | Syndromic microspherophakia | -| GARD:10775 | Syndromic multisystem autoimmune disease due to Itch deficiency | -| GARD:19001 | Syndromic nail anomaly | -| GARD:20650 | Syndromic obesity | -| GARD:21125 | Syndromic oculocutaneous albinism | -| GARD:19888 | Syndromic optic nerve hypoplasia | -| GARD:16858 | Syndromic orbital border hypoplasia | -| GARD:19506 | Syndromic outer canthal malposition | -| GARD:17302 | Syndromic recessive X-linked ichthyosis | -| GARD:19218 | Syndromic renal or urinary tract malformation | -| GARD:19868 | Syndromic respiratory or mediastinal malformation | -| GARD:19538 | Syndromic rod-cone dystrophy | -| GARD:17799 | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | -| GARD:19505 | Syndromic telecanthus | -| GARD:20064 | Syndromic urogenital tract malformation | -| GARD:20187 | Syndromic uterovaginal malformation | -| GARD:19862 | Syndromic visceral malformation | -| GARD:22109 | Syndromic vitreoretinopathy | -| GARD:5091 | Syngnathia-cleft palate syndrome | -| GARD:9863 | Synostoses, tarsal, carpal, and digital | -| GARD:7721 | Synovial sarcoma | -| GARD:17358 | Synpolydactyly type 1 | -| GARD:17359 | Synpolydactyly type 2 | -| GARD:17360 | Synpolydactyly type 3 | -| GARD:5100 | Syringocystadenoma papilliferum | -| GARD:7725 | Syringomyelia | -| GARD:21562 | Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood | -| GARD:20256 | Systemic autoimmune disease | -| GARD:1084 | Systemic capillary leak syndrome | -| GARD:22289 | Systemic disease with glomerulopathy as a major feature | -| GARD:21160 | Systemic disease with skin involvement | -| GARD:21101 | Systemic diseases with anterior uveitis | -| GARD:21103 | Systemic diseases with panuveitis | -| GARD:21102 | Systemic diseases with posterior uveitis | -| GARD:20416 | Systemic inflammatory disease associated with an acquired peripheral neuropathy | -| GARD:18695 | Systemic lupus erythematosus | -| GARD:8616 | Systemic mastocytosis | -| GARD:19596 | Systemic mastocytosis with associated hematologic neoplasm | -| GARD:19116 | Systemic monochloroacetate poisoning | -| GARD:21833 | Systemic polyarteritis nodosa | -| GARD:5104 | Systemic primary carnitine deficiency | -| GARD:9748 | Systemic sclerosis | -| GARD:22292 | Systemic vasculitis associated with glomerulopathy | -| GARD:10966 | Systemic-onset juvenile idiopathic arthritis | -| GARD:7629 | Sézary syndrome | -| GARD:21636 | T+ B+ severe combined immunodeficiency | -| GARD:21405 | T-B+ severe combined immunodeficiency | -| GARD:17053 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | -| GARD:17052 | T-B+ severe combined immunodeficiency due to CD45 deficiency | -| GARD:17051 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | -| GARD:16632 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | -| GARD:5618 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | -| GARD:21406 | T-B- severe combined immunodeficiency | -| GARD:17483 | T-cell immunodeficiency with epidermodysplasia verruciformis | -| GARD:9812 | T-cell large granular lymphocyte leukemia | -| GARD:20133 | T-cell non-Hodgkin lymphoma | -| GARD:13731 | T-cell prolymphocytic leukemia | -| GARD:12257 | T-cell/histiocyte rich large B cell lymphoma | -| GARD:21902 | TAFRO syndrome | -| GARD:10089 | TARP syndrome | -| GARD:17896 | TBCK-related intellectual disability syndrome | -| GARD:17646 | TCR-alpha-beta-positive T-cell deficiency | -| GARD:17898 | TELO2-related intellectual disability-neurodevelopmental disorder | -| GARD:10962 | TEMPI syndrome | -| GARD:17558 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | -| GARD:12413 | TMEM165-CDG | -| GARD:17825 | TMEM199-CDG | -| GARD:16561 | TMEM70-related mitochondrial encephalo-cardio-myopathy | -| GARD:17998 | TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome | -| GARD:12530 | TNP03-related limb-girdle muscular dystrophy D2 | -| GARD:17708 | TOR1AIP1-related limb-girdle muscular dystrophy | -| GARD:22370 | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | -| GARD:12543 | TRAPPC11-related limb-girdle muscular dystrophy R18 | -| GARD:22395 | TRIM22-related inflammatory bowel disease | -| GARD:3844 | TRIM32-related limb-girdle muscular dystrophy R8 | -| GARD:21577 | TRPV4-related bone disorder | -| GARD:19157 | TSH-secreting pituitary adenoma | -| GARD:7730 | Takayasu arteritis | -| GARD:9400 | Tako-Tsubo cardiomyopathy | -| GARD:17921 | Tall stature-intellectual disability-renal anomalies syndrome | -| GARD:17495 | Tall stature-long halluces-multiple extra-epiphyses syndrome | -| GARD:10061 | Talo-patello-scaphoid osteolysis | -| GARD:7731 | Tangier disease | -| GARD:19672 | Tarsal kink syndrome | -| GARD:9225 | Tarsal-carpal coalition syndrome | -| GARD:17674 | Tatton-Brown-Rahman syndrome | -| GARD:7737 | Tay-Sachs disease | -| GARD:21326 | Tay-Sachs disease, B variant, adult form | -| GARD:21324 | Tay-Sachs disease, B variant, infantile form | -| GARD:21325 | Tay-Sachs disease, B variant, juvenile form | -| GARD:21327 | Tay-Sachs disease, B1 variant | -| GARD:5125 | Teebi-Shaltout syndrome | -| GARD:5128 | Tel Hashomer camptodactyly syndrome | -| GARD:19136 | Telangiectasia macularis eruptiva perstans | -| GARD:9901 | Telangiectasia, hereditary hemorrhagic, type 2 | -| GARD:9902 | Telangiectasia, hereditary hemorrhagic, type 3 | -| GARD:10615 | Telangiectasia, hereditary hemorrhagic, type 4 | -| GARD:15978 | Telangiectasia, hereditary hemorrhagic, type 5 | -| GARD:18791 | Telecanthus-hypertelorism-strabismus-pes cavus syndrome | -| GARD:10471 | Telethonin-related limb-girdle muscular dystrophy R7 | -| GARD:17530 | Temperature-sensitive oculocutaneous albinism type 1 | -| GARD:13431 | Temple syndrome | -| GARD:16848 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | -| GARD:17222 | Temple syndrome due to paternal 14q32.2 hypomethylation | -| GARD:17220 | Temple syndrome due to paternal 14q32.2 microdeletion | -| GARD:9441 | Temple-Baraitser syndrome | -| GARD:20451 | Temporomandibular joint anomaly | -| GARD:9679 | Temtamy preaxial brachydactyly syndrome | -| GARD:5688 | Temtamy syndrome | -| GARD:7396 | Tenosynovial giant cell tumor | -| GARD:19899 | Teratogenic Pierre Robin syndrome | -| GARD:20735 | Teratoma of the central nervous system | -| GARD:16769 | Terminal osseous dysplasia-pigmentary defects syndrome | -| GARD:22025 | Terminal transverse limb defect | -| GARD:22133 | Terrien marginal degeneration | -| GARD:16974 | Tessier number 4 facial cleft | -| GARD:19968 | Tessier number 5 facial cleft | -| GARD:19969 | Tessier number 6 facial cleft | -| GARD:16975 | Tessier number 7 facial cleft | -| GARD:5819 | Testicular agenesis | -| GARD:18360 | Testicular anomalies with or without congenital heart disease | -| GARD:16552 | Testicular regression syndrome | -| GARD:4792 | Testicular seminomatous germ cell tumor | -| GARD:17560 | Testicular teratoma | -| GARD:5144 | Tetanus | -| GARD:5148 | Tetra-amelia | -| GARD:15238 | Tetraamelia syndrome 1 | -| GARD:16286 | Tetraamelia syndrome 2 | -| GARD:386 | Tetraamelia-multiple malformations syndrome | -| GARD:20332 | Tetragametic chimerism | -| GARD:21166 | Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria | -| GARD:2245 | Tetralogy of Fallot | -| GARD:3707 | Tetramelic monodactyly | -| GARD:5151 | Tetraploidy | -| GARD:8421 | Tetrasomy 12p | -| GARD:35 | Tetrasomy 18p | -| GARD:12480 | Tetrasomy 21 | -| GARD:18792 | Tetrasomy 5p | -| GARD:42 | Tetrasomy 9p | -| GARD:7754 | Tetrasomy X | -| GARD:5158 | Thakker-Donnai syndrome | -| GARD:2313 | Thalidomide embryopathy | -| GARD:85 | Thanatophoric dysplasia | -| GARD:9295 | Thanatophoric dysplasia type 1 | -| GARD:1402 | Thanatophoric dysplasia type 2 | -| GARD:19708 | Theca steroid-producing cell malignant tumor of ovary, not further specified | -| GARD:12762 | Therapy related acute myeloid leukemia and myelodysplastic syndrome | -| GARD:17097 | Thiamine-responsive encephalopathy | -| GARD:17266 | Thiamine-responsive maple syrup urine disease | -| GARD:9210 | Thiamine-responsive megaloblastic anemia syndrome | -| GARD:2195 | Thickened earlobes-conductive deafness syndrome | -| GARD:9275 | Thiel-Behnke corneal dystrophy | -| GARD:4131 | Thiemann disease, familial form | -| GARD:18727 | Thin ribs-tubular bones-dysmorphism syndrome | -| GARD:20080 | Thinking seizures | -| GARD:19935 | Third branchial cleft anomaly | -| GARD:5175 | Thomas syndrome | -| GARD:12301 | Thomsen and Becker disease | -| GARD:5180 | Thoracic dysplasia-hydrocephalus syndrome | -| GARD:20248 | Thoracic malformation | -| GARD:7759 | Thoracic outlet syndrome | -| GARD:5181 | Thoraco-abdominal enteric duplication | -| GARD:15116 | Thoracolaryngopelvic dysplasia | -| GARD:5184 | Thoracolaryngopelvic dysplasia | -| GARD:20953 | Thoracolumbosacral spina bifida aperta | -| GARD:20960 | Thoracolumbosacral spina bifida cystica | -| GARD:10612 | Thoracomelic dysplasia | -| GARD:15239 | Three m syndrome 1 | -| GARD:15591 | Three m syndrome 2 | -| GARD:15772 | Three m syndrome 3 | -| GARD:21487 | Thrombocythemia with distal limb defects | -| GARD:5191 | Thrombocytopenia 2 | -| GARD:18288 | Thrombocytopenia 3 | -| GARD:18289 | Thrombocytopenia 4 | -| GARD:18492 | Thrombocytopenia 7 | -| GARD:16676 | Thrombocytopenia with congenital dyserythropoietic anemia | -| GARD:5116 | Thrombocytopenia-absent radius syndrome | -| GARD:17726 | Thrombomodulin-related bleeding disorder | -| GARD:18574 | Thrombophilia due to protein c deficiency, autosomal dominant | -| GARD:13041 | Thrombophilia due to protein c deficiency, autosomal recessive | -| GARD:18568 | Thrombophilia due to protein s deficiency, autosomal dominant | -| GARD:18569 | Thrombophilia due to protein s deficiency, autosomal recessive | -| GARD:19227 | Thrombotic microangiopathy | -| GARD:16659 | Thrombotic thrombocytopenic purpura | -| GARD:5199 | Thumb deformity-alopecia-pigmentation anomaly syndrome | -| GARD:4375 | Thumb stiffness-brachydactyly-intellectual disability syndrome | -| GARD:22131 | Thygeson superficial punctate keratitis | -| GARD:7201 | Thymic aplasia | -| GARD:19695 | Thymic carcinoma | -| GARD:5201 | Thymic epithelial neoplasm | -| GARD:19696 | Thymic neuroendocrine carcinoma | -| GARD:19361 | Thymic neuroendocrine tumor | -| GARD:19767 | Thymic tumor | -| GARD:5202 | Thymic-renal-anal-lung dysplasia | -| GARD:16922 | Thymoma | -| GARD:20892 | Thymoma type A | -| GARD:20894 | Thymoma type AB | -| GARD:20893 | Thymoma type B | -| GARD:1646 | Thyrocerebrorenal syndrome | -| GARD:5206 | Thyroid cancer, nonmedullary, 2 | -| GARD:15391 | Thyroid cancer, nonmedullary, 3 | -| GARD:16132 | Thyroid cancer, nonmedullary, 4 | -| GARD:16133 | Thyroid cancer, nonmedullary, 5 | -| GARD:19763 | Thyroid carcinoma | -| GARD:9428 | Thyroid carcinoma, hurthle cell | -| GARD:15354 | Thyroid carcinoma, nonmedullary, with or without cell oxyphilia | -| GARD:18188 | Thyroid dyshormonogenesis 1 | -| GARD:18189 | Thyroid dyshormonogenesis 2a | -| GARD:18190 | Thyroid dyshormonogenesis 3 | -| GARD:18191 | Thyroid dyshormonogenesis 4 | -| GARD:18192 | Thyroid dyshormonogenesis 5 | -| GARD:18193 | Thyroid dyshormonogenesis 6 | -| GARD:16841 | Thyroid ectopia | -| GARD:16844 | Thyroid hemiagenesis | -| GARD:8426 | Thyroid hypoplasia | -| GARD:19359 | Thyroid lymphoma | -| GARD:19762 | Thyroid tumor | -| GARD:10814 | Thyrotoxic periodic paralysis | -| GARD:15119 | Thyrotoxic periodic paralysis, susceptibility to, 1 | -| GARD:15637 | Thyrotoxic periodic paralysis, susceptibility to, 2 | -| GARD:15848 | Thyrotoxic periodic paralysis, susceptibility to, 3 | -| GARD:1369 | Tibial aplasia-ectrodactyly syndrome | -| GARD:8707 | Tibial hemimelia | -| GARD:8309 | Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome | -| GARD:13154 | Tibial muscular dystrophy | -| GARD:21208 | Tibio-fibular synostosis | -| GARD:5216 | Tick-borne encephalitis | -| GARD:7772 | Tietz syndrome | -| GARD:9294 | Timothy syndrome | -| GARD:22380 | Timothy syndrome type 1 | -| GARD:22381 | Timothy syndrome type 2 | -| GARD:12534 | Titin-related limb-girdle muscular dystrophy R10 | -| GARD:18525 | Tolchin-le caignec syndrome | -| GARD:7777 | Tolosa-Hunt syndrome | -| GARD:18751 | Toluene embryopathy | -| GARD:22695 | Tonne-kalscheuer syndrome | -| GARD:18244 | Tooth agenesis, selective, 1 | -| GARD:18247 | Tooth agenesis, selective, 3 | -| GARD:18245 | Tooth agenesis, selective, 4 | -| GARD:18248 | Tooth agenesis, selective, 5 | -| GARD:18249 | Tooth agenesis, selective, 7 | -| GARD:18250 | Tooth agenesis, selective, 8 | -| GARD:18246 | Tooth agenesis, selective, x-linked, 1 | -| GARD:5225 | Toriello-Carey syndrome | -| GARD:10366 | Toriello-Lacassie-Droste syndrome | -| GARD:16651 | Torsade-de-pointes syndrome with short coupling interval | -| GARD:9631 | Torsion dystonia with onset in infancy | -| GARD:5230 | Torticollis-keloids-cryptorchidism-renal dysplasia syndrome | -| GARD:19421 | Total autosomal monosomy | -| GARD:19419 | Total autosomal trisomy | -| GARD:1159 | Total early-onset cataract | -| GARD:20952 | Total spina bifida aperta | -| GARD:20959 | Total spina bifida cystica | -| GARD:7784 | Townes-Brocks syndrome | -| GARD:21171 | Toxic dermatosis | -| GARD:18696 | Toxic epidermal necrolysis | -| GARD:21061 | Toxic maculopathy due to antimalarial drugs | -| GARD:20566 | Toxic oil syndrome | -| GARD:20701 | Toxic or drug-related embryofetopathy | -| GARD:20597 | Toxin-mediated infectious botulism | -| GARD:18793 | Toxocariasis | -| GARD:5233 | Tracheal agenesis | -| GARD:20002 | Tracheal anomaly | -| GARD:5235 | Tracheobronchopathia osteochondroplastica | -| GARD:10445 | Transaldolase deficiency | -| GARD:4522 | Transcobalamin I deficiency | -| GARD:12338 | Transcobalamin deficiency | -| GARD:3096 | Transgrediens et progrediens palmoplantar keratoderma | -| GARD:20142 | Transient congenital hypothyroidism | -| GARD:20645 | Transient congenital hypothyroidism due to maternal factor | -| GARD:20646 | Transient congenital hypothyroidism due to neonatal factor | -| GARD:7793 | Transient erythroblastopenia of childhood | -| GARD:2791 | Transient familial neonatal hyperbilirubinemia | -| GARD:21159 | Transient hyperammonemia of the newborn | -| GARD:20112 | Transient hypogammaglobulinemia of infancy | -| GARD:17363 | Transient infantile hypertriglyceridemia and hepatosteatosis | -| GARD:12765 | Transient myeloproliferative syndrome | -| GARD:1839 | Transient neonatal diabetes mellitus | -| GARD:21498 | Transient neonatal multiple acyl-CoA dehydrogenase deficiency | -| GARD:21625 | Transient neonatal myasthenia gravis | -| GARD:19176 | Transient pseudohypoaldosteronism | -| GARD:5388 | Transient tyrosinemia of the newborn | -| GARD:20484 | Transitional cell carcinoma of the corpus uteri | -| GARD:17894 | Transketolase deficiency | -| GARD:7795 | Transposition of the great arteries | -| GARD:19551 | Transposition of the great arteries and conotruncal cardiac anomaly | -| GARD:20191 | Transverse vaginal septum | -| GARD:21660 | Traumatic avascular necrosis | -| GARD:15698 | Treacher collins syndrome 2 | -| GARD:9125 | Treacher collins syndrome 3 | -| GARD:16396 | Treacher collins syndrome 4 | -| GARD:9124 | Treacher-Collins syndrome | -| GARD:10372 | Trehalase deficiency | -| GARD:17774 | Tremor-ataxia-central hypomyelination syndrome | -| GARD:3948 | Tremor-nystagmus-duodenal ulcer syndrome | -| GARD:18862 | Trench fever | -| GARD:6194 | Triatrial heart | -| GARD:20753 | Tricarboxylic acid cycle disorder | -| GARD:5250 | Trichinellosis | -| GARD:7799 | Tricho-dento-osseous syndrome | -| GARD:938 | Tricho-retino-dento-digital syndrome | -| GARD:265 | Trichodental syndrome | -| GARD:4369 | Trichodermodysplasia-dental alterations syndrome | -| GARD:18943 | Trichodysplasia-amelogenesis imperfecta syndrome | -| GARD:5261 | Trichodysplasia-xeroderma syndrome | -| GARD:10373 | Trichoepithelioma, multiple familial, 2 | -| GARD:5263 | Trichofolliculoma | -| GARD:15819 | Trichohepatoenteric syndrome 2 | -| GARD:5266 | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | -| GARD:5267 | Trichoodontoonychial dysplasia | -| GARD:21451 | Trichorhinophalangeal syndrome | -| GARD:15017 | Trichorhinophalangeal syndrome type 1 and 3 | -| GARD:7801 | Trichorhinophalangeal syndrome type 2 | -| GARD:7800 | Trichorhinophalangeal syndrome, type i | -| GARD:7802 | Trichorhinophalangeal syndrome, type iii | -| GARD:12109 | Trichothiodystrophy | -| GARD:5270 | Trichothiodystrophy 1, photosensitive | -| GARD:16100 | Trichothiodystrophy 2, photosensitive | -| GARD:16102 | Trichothiodystrophy 3, photosensitive | -| GARD:5271 | Trichothiodystrophy 4, nonphotosensitive | -| GARD:15277 | Trichothiodystrophy 5, nonphotosensitive | -| GARD:16172 | Trichothiodystrophy 6, nonphotosensitive | -| GARD:16362 | Trichothiodystrophy 7, nonphotosensitive | -| GARD:5274 | Tricuspid atresia | -| GARD:19261 | Tricuspid valve agenesis | -| GARD:20017 | Trigeminal autonomic cephalalgia | -| GARD:7805 | Trigeminal neuralgia | -| GARD:22267 | Triglyceride deposit cardiomyovasculopathy | -| GARD:18558 | Trigonocephaly 1 | -| GARD:18559 | Trigonocephaly 2 | -| GARD:5126 | Trigonocephaly-bifid nose-acral anomalies syndrome | -| GARD:2756 | Trigonocephaly-broad thumbs syndrome | -| GARD:243 | Trigonocephaly-short stature-developmental delay syndrome | -| GARD:5286 | Triopia | -| GARD:5287 | Triose phosphate-isomerase deficiency | -| GARD:5290 | Triphalangeal thumbs-brachyectrodactyly syndrome | -| GARD:457 | Triple A syndrome | -| GARD:5295 | Triploidy | -| GARD:2621 | Trismus-pseudocamptodactyly syndrome | -| GARD:5299 | Trisomy 10p | -| GARD:5305 | Trisomy 12p | -| GARD:7341 | Trisomy 13 | -| GARD:5318 | Trisomy 17p | -| GARD:6321 | Trisomy 18 | -| GARD:5323 | Trisomy 18p | -| GARD:20781 | Trisomy 1q | -| GARD:5333 | Trisomy 20p | -| GARD:6091 | Trisomy 4p | -| GARD:6093 | Trisomy 5p | -| GARD:20920 | Trisomy 8p | -| GARD:5362 | Trisomy 8q | -| GARD:18683 | Trisomy 9p | -| GARD:5672 | Trisomy X | -| GARD:16768 | Tritanopia | -| GARD:18928 | Tropical endomyocardial fibrosis | -| GARD:16946 | Tropical pancreatitis | -| GARD:8208 | Tropical spastic paraparesis | -| GARD:21209 | True congenital shoulder dislocation | -| GARD:20174 | True unicornuate uterus | -| GARD:16627 | Truncus arteriosus | -| GARD:7827 | Tuberculosis | -| GARD:7828 | Tuberculous meningitis | -| GARD:15121 | Tuberous sclerosis 1 | -| GARD:15640 | Tuberous sclerosis 2 | -| GARD:7830 | Tuberous sclerosis complex | -| GARD:3884 | Tubular aggregate myopathy | -| GARD:19745 | Tubular duplication of the esophagus | -| GARD:21944 | Tubulinopathy-associated dysgyria | -| GARD:21419 | Tubulocystic renal cell carcinoma | -| GARD:9252 | Tubulointerstitial nephritis and uveitis syndrome | -| GARD:425 | Tufted angioma | -| GARD:9814 | Tukel syndrome | -| GARD:396 | Tularemia | -| GARD:8457 | Tumor necrosis factor receptor 1 associated periodic syndrome | -| GARD:12697 | Tumor of cranial and spinal nerves | -| GARD:20254 | Tumor of endocrine glands | -| GARD:18878 | Tumor of hematopoietic and lymphoid tissues | -| GARD:20737 | Tumor of meninges | -| GARD:21549 | Tumor of testis and paratestis | -| GARD:15146 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | -| GARD:16281 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | -| GARD:16282 | Tumoral calcinosis, hyperphosphatemic, familial, 3 | -| GARD:393 | Tungiasis | -| GARD:19621 | Tunnel subaortic stenosis | -| GARD:16912 | Turcot syndrome with polyposis | -| GARD:7831 | Turner syndrome | -| GARD:19681 | Turner syndrome due to structural X chromosome anomalies | -| GARD:22445 | Twin anemia-polycythemia sequence | -| GARD:325 | Twin to twin transfusion syndrome | -| GARD:22446 | Twin-reversed arterial perfusion sequence | -| GARD:21957 | Type 1 interferonopathy | -| GARD:21986 | Type 1 interferonopathy of childhood | -| GARD:19187 | Type 11 collagen-related bone disorder | -| GARD:19186 | Type 2 collagen-related bone disorder | -| GARD:9564 | Typhoid | -| GARD:19829 | Typhus-group rickettsiosis | -| GARD:12822 | Typical nemaline myopathy | -| GARD:20033 | Typical urticaria pigmentosa | -| GARD:2658 | Tyrosinemia type 1 | -| GARD:3105 | Tyrosinemia type 2 | -| GARD:10332 | Tyrosinemia type 3 | -| GARD:10679 | UMOD-related autosomal dominant tubulointerstitial kidney disease | -| GARD:17875 | USP18 deficiency | -| GARD:10947 | UV-sensitive syndrome | -| GARD:5393 | Uhl anomaly | -| GARD:5394 | Ulbright-Hodes syndrome | -| GARD:5395 | Ulerythema ophryogenesis | -| GARD:16120 | Ullrich congenital muscular dystrophy 2 | -| GARD:5398 | Ulna hypoplasia-intellectual disability syndrome | -| GARD:4740 | Ulna metaphyseal dysplasia syndrome | -| GARD:19182 | Ulnar hemimelia | -| GARD:5400 | Ulnar hypoplasia-split foot syndrome | -| GARD:118 | Ulnar-mammary syndrome | -| GARD:16654 | Ulnar/fibula ray defect-brachydactyly syndrome | -| GARD:5403 | Umbilical cord ulceration-intestinal atresia syndrome | -| GARD:12760 | Unclassified acute myeloid leukemia | -| GARD:21457 | Unclassified autoinflammatory syndrome | -| GARD:21461 | Unclassified autoinflammatory syndrome of childhood | -| GARD:20534 | Unclassified cardiomyopathy | -| GARD:19013 | Unclassified genetic skin disorder | -| GARD:19854 | Unclassified intestinal pseudoobstruction | -| GARD:19586 | Unclassified myelodysplastic syndrome | -| GARD:19584 | Unclassified myelodysplastic/myeloproliferative disease | -| GARD:20698 | Unclassified vasculitis | -| GARD:5404 | Uncombable hair syndrome | -| GARD:15122 | Uncombable hair syndrome 1 | -| GARD:16216 | Uncombable hair syndrome 2 | -| GARD:16217 | Uncombable hair syndrome 3 | -| GARD:19840 | Undetermined colitis | -| GARD:21742 | Undifferentiated carcinoma of esophagus | -| GARD:21788 | Undifferentiated carcinoma of liver and intrahepatic biliary tract | -| GARD:21759 | Undifferentiated carcinoma of stomach | -| GARD:20480 | Undifferentiated carcinoma of the corpus uteri | -| GARD:19097 | Undifferentiated connective tissue syndrome | -| GARD:20145 | Undifferentiated embryonal sarcoma of the liver | -| GARD:6963 | Undifferentiated pleomorphic sarcoma | -| GARD:20699 | Unexplained long-lasting fever/inflammatory syndrome | -| GARD:19831 | Unexplained periodic fever syndrome | -| GARD:21462 | Unexplained periodic fever syndrome of childhood | -| GARD:6005 | Unicentric Castleman disease | -| GARD:20179 | Unicervical bicornuate uterus | -| GARD:20173 | Unilateral aplasia of the Müllerian ducts | -| GARD:19179 | Unilateral congenital megacalycosis | -| GARD:20981 | Unilateral focal polymicrogyria | -| GARD:19777 | Unilateral hemispheric polymicrogyria | -| GARD:19375 | Unilateral multicystic dysplastic kidney | -| GARD:20980 | Unilateral polymicrogyria | -| GARD:20918 | Uniparental disomy of chromosome X | -| GARD:19269 | Univentricular cardiopathy | -| GARD:18725 | Univentricular heart | -| GARD:19155 | Unspecified juvenile idiopathic arthritis | -| GARD:20764 | Unspecified mitochondrial disorder | -| GARD:19670 | Unstable hemoglobin disease | -| GARD:5421 | Upington disease | -| GARD:16602 | Upper limb defect-eye and ear abnormalities syndrome | -| GARD:21212 | Upper limb hypertrophy | -| GARD:2408 | Upper limb mesomelic dysplasia | -| GARD:20957 | Upper thoracic spina bifida aperta | -| GARD:20964 | Upper thoracic spina bifida cystica | -| GARD:9376 | Upper tract urothelial carcinoma | -| GARD:5425 | Urachal cyst | -| GARD:21800 | Urachal diverticulum | -| GARD:21799 | Urachal sinus | -| GARD:5426 | Urban-Rogers-Meyer syndrome | -| GARD:19246 | Uremic pruritus | -| GARD:8539 | Urocanic aciduria | -| GARD:15907 | Urofacial syndrome 2 | -| GARD:19029 | Urogenital tract malformation | -| GARD:7843 | Usher syndrome | -| GARD:5435 | Usher syndrome type 1 | -| GARD:5440 | Usher syndrome type 2 | -| GARD:5442 | Usher syndrome type 3 | -| GARD:16370 | Usher syndrome, type 1m | -| GARD:5436 | Usher syndrome, type i | -| GARD:5437 | Usher syndrome, type ic | -| GARD:5438 | Usher syndrome, type id | -| GARD:5439 | Usher syndrome, type ie | -| GARD:10043 | Usher syndrome, type if | -| GARD:15404 | Usher syndrome, type ig | -| GARD:15573 | Usher syndrome, type ih | -| GARD:15241 | Usher syndrome, type iia | -| GARD:8497 | Usher syndrome, type iic | -| GARD:15514 | Usher syndrome, type iid | -| GARD:15242 | Usher syndrome, type iiia | -| GARD:15813 | Usher syndrome, type iiib | -| GARD:15863 | Usher syndrome, type ij | -| GARD:15890 | Usher syndrome, type ik | -| GARD:20186 | Uterine cervical aplasia and agenesis | -| GARD:20184 | Uterine hypoplasia | -| GARD:20170 | Uterovaginal malformation | -| GARD:15320 | Uv-sensitive syndrome 1 | -| GARD:15827 | Uv-sensitive syndrome 2 | -| GARD:15828 | Uv-sensitive syndrome 3 | -| GARD:1440 | Uveal coloboma-cleft lip and palate-intellectual disability | -| GARD:8621 | Uveal melanoma | -| GARD:19549 | Uveitis | -| GARD:272 | VACTERL with hydrocephalus | -| GARD:5443 | VACTERL/VATER association | -| GARD:15001 | VEXAS syndrome | -| GARD:3787 | VIPoma | -| GARD:17837 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | -| GARD:15309 | Vacterl association, x-linked, with or without hydrocephalus | -| GARD:16770 | Vacuolar myopathy with sarcoplasmic reticulum protein aggregates | -| GARD:18867 | Vaginal atresia | -| GARD:9348 | Vaginal carcinoma | -| GARD:19622 | Valvular pulmonary stenosis | -| GARD:5453 | Van den Bosch syndrome | -| GARD:3382 | Van den Ende-Gupta syndrome | -| GARD:8414 | Van der Woude syndrome | -| GARD:15370 | Van der woude syndrome 1, modifier of | -| GARD:7846 | Van der woude syndrome 2 | -| GARD:15984 | Van maldergem syndrome 2 | -| GARD:21894 | Variably protease-sensitive prionopathy | -| GARD:21382 | Variant ABeta2M amyloidosis | -| GARD:9550 | Variant Creutzfeldt-Jakob disease | -| GARD:20611 | Variant of Guillain-Barré syndrome | -| GARD:15243 | Vas deferens, congenital bilateral aplasia of | -| GARD:15279 | Vas deferens, congenital bilateral aplasia of, x-linked | -| GARD:2082 | Vascular Ehlers-Danlos syndrome | -| GARD:18894 | Vascular anomaly or angioma | -| GARD:21913 | Vascular tumor with associated anomalies | -| GARD:18844 | Vasculitis | -| GARD:12383 | Vasculitis due to ADA2 deficiency | -| GARD:21533 | Vasoproliferative tumor of the retina | -| GARD:22223 | Vegetative pyoderma gangrenosum | -| GARD:5467 | Vein of Galen aneurysmal malformation | -| GARD:5469 | Velo-facial-skeletal syndrome | -| GARD:15123 | Velocardiofacial syndrome | -| GARD:21413 | Venezuelan hemorrhagic fever | -| GARD:21536 | Venous thoracic outlet syndrome | -| GARD:22051 | Ventilator-induced diaphragmatic dysfunction | -| GARD:5472 | Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome | -| GARD:15596 | Ventricular fibrillation, paroxysmal familial, 2 | -| GARD:15535 | Ventricular tachycardia, catecholaminergic polymorphic, 2 | -| GARD:15744 | Ventricular tachycardia, catecholaminergic polymorphic, 3 | -| GARD:15880 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | -| GARD:17757 | Ventriculomegaly-cystic kidney disease | -| GARD:5482 | Verloove Vanhorick-Brubakk syndrome | -| GARD:7854 | Vernal keratoconjunctivitis | -| GARD:21927 | Verrucous hemangioma | -| GARD:19020 | Verrucous nevus | -| GARD:18508 | Vertebral, cardiac, renal, and limb defects syndrome 1 | -| GARD:18509 | Vertebral, cardiac, renal, and limb defects syndrome 2 | -| GARD:18510 | Vertebral, cardiac, renal, and limb defects syndrome 3 | -| GARD:5508 | Very long chain acyl-CoA dehydrogenase deficiency | -| GARD:18418 | Vesicoureteral reflux 1 | -| GARD:18419 | Vesicoureteral reflux 2 | -| GARD:18420 | Vesicoureteral reflux 3 | -| GARD:18421 | Vesicoureteral reflux 4 | -| GARD:18422 | Vesicoureteral reflux 5 | -| GARD:18423 | Vesicoureteral reflux 6 | -| GARD:18424 | Vesicoureteral reflux 7 | -| GARD:18425 | Vesicoureteral reflux 8 | -| GARD:223 | Vestibular schwannoma | -| GARD:17901 | Vibratory angioedema | -| GARD:9806 | Vibratory urticaria | -| GARD:448 | Vici syndrome | -| GARD:5494 | Viral hemorrhagic fever | -| GARD:20377 | Viral myositis | -| GARD:20592 | Virus-associated trichodysplasia spinulosa | -| GARD:21071 | Visceral calciphylaxis | -| GARD:19392 | Visceral malformation of the liver, biliary tract, pancreas or spleen | -| GARD:16446 | Visceral myopathy 2 | -| GARD:18923 | Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome | -| GARD:12062 | Visual snow syndrome | -| GARD:19464 | Vitamin B12- and folate-independent constitutional megaloblastic anemia | -| GARD:12623 | Vitamin B12-responsive methylmalonic acidemia | -| GARD:5500 | Vitamin B12-responsive methylmalonic acidemia type cblA | -| GARD:9479 | Vitamin B12-responsive methylmalonic acidemia type cblB | -| GARD:17391 | Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | -| GARD:3586 | Vitamin B12-unresponsive methylmalonic acidemia | -| GARD:16714 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | -| GARD:17335 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | -| GARD:8580 | Vitamin K antagonist embryofetopathy | -| GARD:18636 | Vitamin d hydroxylation-deficient rickets, type 1a | -| GARD:18415 | Vitamin d hydroxylation-deficient rickets, type 1b | -| GARD:18169 | Vitamin d-dependent rickets, type 2a | -| GARD:18170 | Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor | -| GARD:18171 | Vitamin d-dependent rickets, type 3 | -| GARD:18195 | Vitamin k-dependent clotting factors, combined deficiency of, 1 | -| GARD:18196 | Vitamin k-dependent clotting factors, combined deficiency of, 2 | -| GARD:19539 | Vitreoretinopathy | -| GARD:1887 | Vocal cord and pharyngeal distal myopathy | -| GARD:7862 | Vogt-Koyanagi-Harada disease | -| GARD:7855 | Von Hippel-Lindau disease | -| GARD:1894 | Von Voss-Cherstvoy syndrome | -| GARD:7867 | Von Willebrand disease | -| GARD:17019 | Von Willebrand disease type 1 | -| GARD:17020 | Von Willebrand disease type 2 | -| GARD:17021 | Von Willebrand disease type 2A | -| GARD:17022 | Von Willebrand disease type 2B | -| GARD:17023 | Von Willebrand disease type 2M | -| GARD:17024 | Von Willebrand disease type 2N | -| GARD:17025 | Von Willebrand disease type 3 | -| GARD:16467 | Vulto-van silfhout-de vries syndrome | -| GARD:22007 | Vulvar adenocarcinoma | -| GARD:22006 | Vulvar basal cell carcinoma | -| GARD:9349 | Vulvar carcinoma | -| GARD:19876 | Vulvar intraepithelial neoplasia | -| GARD:22005 | Vulvar squamous cell carcinoma | -| GARD:19037 | Vulvovaginal gingival syndrome | -| GARD:20348 | Vulvovaginal rhabdomyosarcoma | -| GARD:358 | W syndrome | -| GARD:17838 | WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome | -| GARD:5528 | WAGR syndrome | -| GARD:18012 | WARS2-related combined oxidative phosphorylation defect | -| GARD:9297 | WHIM syndrome | -| GARD:39 | WT limb-blood syndrome | -| GARD:5525 | Waardenburg syndrome | -| GARD:5519 | Waardenburg syndrome type 1 | -| GARD:5520 | Waardenburg syndrome type 2 | -| GARD:5523 | Waardenburg syndrome type 3 | -| GARD:5522 | Waardenburg syndrome, type 2b | -| GARD:15396 | Waardenburg syndrome, type 2c | -| GARD:15444 | Waardenburg syndrome, type 2d | -| GARD:15521 | Waardenburg syndrome, type 2e | -| GARD:15245 | Waardenburg syndrome, type 4a | -| GARD:15641 | Waardenburg syndrome, type 4b | -| GARD:15642 | Waardenburg syndrome, type 4c | -| GARD:5524 | Waardenburg-Shah syndrome | -| GARD:7871 | Wagner disease | -| GARD:7872 | Waldenström macroglobulinemia | -| GARD:2599 | Walker-Warburg syndrome | -| GARD:15780 | Warburg micro syndrome 2 | -| GARD:15778 | Warburg micro syndrome 3 | -| GARD:15998 | Warburg micro syndrome 4 | -| GARD:15007 | Warburg-Cinotti syndrome | -| GARD:13708 | Warsaw breakage syndrome | -| GARD:22300 | Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome | -| GARD:18899 | Warty dyskeratoma | -| GARD:9449 | Waterhouse-Friderichsen syndrome | -| GARD:7878 | Weaver syndrome | -| GARD:5545 | Weaver-Williams syndrome | -| GARD:4936 | Weill-Marchesani syndrome | -| GARD:15246 | Weill-marchesani syndrome 1 | -| GARD:15428 | Weill-marchesani syndrome 2 | -| GARD:15844 | Weill-marchesani syndrome 3 | -| GARD:5232 | Weismann-Netter syndrome | -| GARD:21120 | Well-differentiated fetal adenocarcinoma of the lung | -| GARD:19721 | Well-differentiated liposarcoma | -| GARD:20895 | Well-differentiated thymic neuroendocrine carcinoma | -| GARD:329 | Wells syndrome | -| GARD:7885 | Werner syndrome | -| GARD:15483 | West nile virus, susceptibility to | -| GARD:9959 | West-Nile encephalitis | -| GARD:7888 | Western equine encephalitis | -| GARD:7889 | Whipple disease | -| GARD:10024 | Whistling face syndrome, recessive form | -| GARD:20587 | White fibrous papulosis of the neck | -| GARD:10081 | White forelock with malformations | -| GARD:5560 | White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome | -| GARD:9282 | White platelet syndrome | -| GARD:8501 | White sponge nevus | -| GARD:16012 | White sponge nevus 2 | -| GARD:13774 | White-Sutton syndrome | -| GARD:8692 | Whooping cough | -| GARD:330 | Wiedemann-Rautenstrauch syndrome | -| GARD:5565 | Wiedemann-Steiner syndrome | -| GARD:19065 | Wild type ABeta2M amyloidosis | -| GARD:21501 | Wild type ATTR amyloidosis | -| GARD:5569 | Wildervanck syndrome | -| GARD:7891 | Williams syndrome | -| GARD:21731 | Williams-Campbell syndrome | -| GARD:15124 | Wilms tumor 1 | -| GARD:8559 | Wilms tumor 2 | -| GARD:15125 | Wilms tumor 3 | -| GARD:15328 | Wilms tumor 4 | -| GARD:15336 | Wilms tumor 5 | -| GARD:16162 | Wilms tumor 6 | -| GARD:15559 | Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome | -| GARD:7893 | Wilson disease | -| GARD:5579 | Wilson-Turner syndrome | -| GARD:7894 | Winchester syndrome | -| GARD:7895 | Wiskott-Aldrich syndrome | -| GARD:15809 | Wiskott-aldrich syndrome 2 | -| GARD:15325 | Wiskott-aldrich syndrome, autosomal dominant | -| GARD:22043 | Witteveen-Kolk syndrome | -| GARD:5589 | Wolcott-Rallison syndrome | -| GARD:7896 | Wolf-Hirschhorn syndrome | -| GARD:7898 | Wolfram syndrome | -| GARD:15374 | Wolfram syndrome 2 | -| GARD:15313 | Wolfram syndrome, mitochondrial form | -| GARD:17683 | Wolfram-like syndrome | -| GARD:7899 | Wolman disease | -| GARD:5592 | Woodhouse-Sakati syndrome | -| GARD:5597 | Woolly hair | -| GARD:13025 | Woolly hair nevus | -| GARD:16157 | Woolly hair, autosomal recessive 3 | -| GARD:17697 | Woolly hair-palmoplantar keratoderma syndrome | -| GARD:10290 | Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia | -| GARD:5598 | Worster-Drought syndrome | -| GARD:20149 | Wound botulism | -| GARD:20065 | Wound myiasis | -| GARD:273 | Wrinkly skin syndrome | -| GARD:7900 | Wyburn-Mason syndrome | -| GARD:20914 | X and Y chromosomal anomaly | -| GARD:20907 | X chromosome number anomaly | -| GARD:20908 | X chromosome number anomaly with female phenotype | -| GARD:20909 | X chromosome number anomaly with male phenotype | -| GARD:19345 | X small rings | -| GARD:16774 | X-linked Alport syndrome | -| GARD:2432 | X-linked Alport syndrome-diffuse leiomyomatosis | -| GARD:12444 | X-linked Charcot-Marie-Tooth disease | -| GARD:1258 | X-linked Charcot-Marie-Tooth disease type 1 | -| GARD:1243 | X-linked Charcot-Marie-Tooth disease type 2 | -| GARD:1244 | X-linked Charcot-Marie-Tooth disease type 3 | -| GARD:1240 | X-linked Charcot-Marie-Tooth disease type 4 | -| GARD:114 | X-linked Charcot-Marie-Tooth disease type 5 | -| GARD:12445 | X-linked Charcot-Marie-Tooth disease type 6 | -| GARD:8505 | X-linked Ehlers-Danlos syndrome | -| GARD:2102 | X-linked Emery-Dreifuss muscular dystrophy | -| GARD:17370 | X-linked acrogigantism | -| GARD:555 | X-linked adrenal hypoplasia congenita | -| GARD:5758 | X-linked adrenoleukodystrophy | -| GARD:1033 | X-linked agammaglobulinemia | -| GARD:1058 | X-linked calvarial hyperostosis | -| GARD:17499 | X-linked central congenital hypothyroidism with late-onset testicular enlargement | -| GARD:11925 | X-linked centronuclear myopathy | -| GARD:20665 | X-linked cerebellar ataxia | -| GARD:9412 | X-linked cerebral adrenoleukodystrophy | -| GARD:17006 | X-linked cerebral-cerebellar-coloboma syndrome | -| GARD:1394 | X-linked cleft palate and ankyloglossia | -| GARD:17709 | X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome | -| GARD:19599 | X-linked complex spastic paraplegia | -| GARD:12526 | X-linked complicated corpus callosum dysgenesis | -| GARD:12525 | X-linked complicated spastic paraplegia type 1 | -| GARD:16782 | X-linked cone dysfunction syndrome with myopia | -| GARD:2863 | X-linked congenital generalized hypertrichosis | -| GARD:2580 | X-linked corneal dermoid | -| GARD:1608 | X-linked creatine transporter deficiency | -| GARD:21724 | X-linked distal hereditary motor neuropathy | -| GARD:16957 | X-linked distal spinal muscular atrophy type 3 | -| GARD:6189 | X-linked dominant chondrodysplasia punctata | -| GARD:17007 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | -| GARD:17574 | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia | -| GARD:10533 | X-linked dystonia-parkinsonism | -| GARD:17339 | X-linked endothelial corneal dystrophy | -| GARD:16748 | X-linked epilepsy-learning disabilities-behavior disorders syndrome | -| GARD:17755 | X-linked erythropoietic protoporphyria | -| GARD:17926 | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome | -| GARD:13638 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | -| GARD:12731 | X-linked hereditary sensory and autonomic neuropathy with deafness | -| GARD:73 | X-linked hyper-IgM syndrome | -| GARD:10427 | X-linked hypohidrotic ectodermal dysplasia | -| GARD:12943 | X-linked hypophosphatemia | -| GARD:21109 | X-linked ichthyosis syndrome | -| GARD:10907 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | -| GARD:274 | X-linked immunoneurologic disorder | -| GARD:17581 | X-linked intellectual disability due to GRIA3 mutations | -| GARD:16677 | X-linked intellectual disability with isolated growth hormone deficiency | -| GARD:9157 | X-linked intellectual disability, Abidi type | -| GARD:16742 | X-linked intellectual disability, Armfield type | -| GARD:13244 | X-linked intellectual disability, Cabezas type | -| GARD:16743 | X-linked intellectual disability, Cantagrel type | -| GARD:20054 | X-linked intellectual disability, Cilliers type | -| GARD:19241 | X-linked intellectual disability, Golabi-Ito-Hall type | -| GARD:16834 | X-linked intellectual disability, Hedera type | -| GARD:9984 | X-linked intellectual disability, Miles-Carpenter type | -| GARD:12669 | X-linked intellectual disability, Najm type | -| GARD:17005 | X-linked intellectual disability, Nascimento type | -| GARD:19056 | X-linked intellectual disability, Pai type | -| GARD:19239 | X-linked intellectual disability, Porteous type | -| GARD:9288 | X-linked intellectual disability, Schimke type | -| GARD:19057 | X-linked intellectual disability, Seemanova type | -| GARD:4119 | X-linked intellectual disability, Shashi type | -| GARD:16751 | X-linked intellectual disability, Shrimpton type | -| GARD:9704 | X-linked intellectual disability, Siderius type | -| GARD:5615 | X-linked intellectual disability, Snyder type | -| GARD:19058 | X-linked intellectual disability, Stevenson type | -| GARD:1133 | X-linked intellectual disability, Stocco Dos Santos type | -| GARD:19059 | X-linked intellectual disability, Stoll type | -| GARD:19242 | X-linked intellectual disability, Sutherland-Haan type | -| GARD:17008 | X-linked intellectual disability, Van Esch type | -| GARD:16747 | X-linked intellectual disability, Wilson type | -| GARD:8520 | X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome | -| GARD:19060 | X-linked intellectual disability-acromegaly-hyperactivity syndrome | -| GARD:19063 | X-linked intellectual disability-ataxia-apraxia syndrome | -| GARD:17485 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | -| GARD:9947 | X-linked intellectual disability-cerebellar hypoplasia syndrome | -| GARD:17815 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | -| GARD:17009 | X-linked intellectual disability-craniofacioskeletal syndrome | -| GARD:16745 | X-linked intellectual disability-cubitus valgus-dysmorphism syndrome | -| GARD:4482 | X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome | -| GARD:16584 | X-linked intellectual disability-epilepsy syndrome | -| GARD:19054 | X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome | -| GARD:17872 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | -| GARD:19053 | X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome | -| GARD:345 | X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome | -| GARD:16752 | X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome | -| GARD:12715 | X-linked intellectual disability-hypotonia-movement disorder syndrome | -| GARD:21752 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | -| GARD:19055 | X-linked intellectual disability-macrocephaly-macroorchidism syndrome | -| GARD:2765 | X-linked intellectual disability-plagiocephaly syndrome | -| GARD:3506 | X-linked intellectual disability-psychosis-macroorchidism syndrome | -| GARD:8360 | X-linked intellectual disability-retinitis pigmentosa syndrome | -| GARD:5238 | X-linked intellectual disability-seizures-psoriasis syndrome | -| GARD:17800 | X-linked intellectual disability-short stature-overweight syndrome | -| GARD:21990 | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome | -| GARD:4573 | X-linked lethal multiple pterygium syndrome | -| GARD:12491 | X-linked lissencephaly with abnormal genitalia | -| GARD:10915 | X-linked lymphoproliferative disease | -| GARD:7906 | X-linked lymphoproliferative disease due to SH2D1A deficiency | -| GARD:10916 | X-linked lymphoproliferative disease due to XIAP deficiency | -| GARD:1002 | X-linked mandibulofacial dysostosis | -| GARD:17464 | X-linked mendelian susceptibility to mycobacterial diseases | -| GARD:17465 | X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | -| GARD:12915 | X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency | -| GARD:17721 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | -| GARD:3892 | X-linked myopathy with excessive autophagy | -| GARD:17081 | X-linked myopathy with postural muscle atrophy | -| GARD:17792 | X-linked myotubular myopathy-abnormal genitalia syndrome | -| GARD:19061 | X-linked neurodegenerative syndrome, Bertini type | -| GARD:19062 | X-linked neurodegenerative syndrome, Hamel type | -| GARD:17439 | X-linked non progressive cerebellar ataxia | -| GARD:18640 | X-linked non-syndromic intellectual disability | -| GARD:16790 | X-linked non-syndromic sensorineural deafness type DFN | -| GARD:17614 | X-linked osteoporosis with fractures | -| GARD:17567 | X-linked parkinsonism-spasticity syndrome | -| GARD:16558 | X-linked progressive cerebellar ataxia | -| GARD:21428 | X-linked pure spastic paraplegia | -| GARD:8471 | X-linked recessive ocular albinism | -| GARD:16756 | X-linked reticulate pigmentary disorder | -| GARD:4680 | X-linked retinal dysplasia | -| GARD:4690 | X-linked retinoschisis | -| GARD:7608 | X-linked scapuloperoneal muscular dystrophy | -| GARD:3981 | X-linked severe congenital neutropenia | -| GARD:22490 | X-linked severe syndromic thoracic aortic aneurysm and dissection | -| GARD:9456 | X-linked sideroblastic anemia | -| GARD:668 | X-linked sideroblastic anemia and spinocerebellar ataxia | -| GARD:3520 | X-linked skeletal dysplasia-intellectual disability syndrome | -| GARD:9585 | X-linked spastic paraplegia type 16 | -| GARD:17063 | X-linked spastic paraplegia type 34 | -| GARD:16622 | X-linked spasticity-intellectual disability-epilepsy syndrome | -| GARD:9981 | X-linked spinocerebellar ataxia type 3 | -| GARD:9980 | X-linked spinocerebellar ataxia type 4 | -| GARD:4979 | X-linked spondyloepimetaphyseal dysplasia | -| GARD:5176 | X-linked thrombocytopenia with normal platelets | -| GARD:8591 | X-linked visceral heterotaxy 1 | -| GARD:424 | XK aprosencephaly syndrome | -| GARD:2541 | XY type gonadal dysgenesis-associated anomalies syndrome | -| GARD:21599 | XYLT1-CDG | -| GARD:5621 | Xanthinuria type I | -| GARD:5620 | Xanthinuria type II | -| GARD:13186 | Xanthoma disseminatum | -| GARD:18613 | Xanthomatosis, susceptibility to | -| GARD:7910 | Xeroderma pigmentosum | -| GARD:5630 | Xeroderma pigmentosum variant | -| GARD:5624 | Xeroderma pigmentosum, complementation group a | -| GARD:5625 | Xeroderma pigmentosum, complementation group b | -| GARD:5626 | Xeroderma pigmentosum, complementation group c | -| GARD:16452 | Xeroderma pigmentosum, complementation group d | -| GARD:5627 | Xeroderma pigmentosum, complementation group e | -| GARD:5628 | Xeroderma pigmentosum, complementation group f | -| GARD:5629 | Xeroderma pigmentosum, complementation group g | -| GARD:17130 | Xeroderma pigmentosum-Cockayne syndrome complex | -| GARD:17246 | Xp21 deletion syndrome | -| GARD:21117 | Xp22.13p22.2 duplication syndrome | -| GARD:18733 | Xp22.3 microdeletion syndrome | -| GARD:21369 | Xq12-q13.3 duplication syndrome | -| GARD:369 | Xq21 microdeletion syndrome | -| GARD:17955 | Xq25 microduplication syndrome | -| GARD:17247 | Xq27.3q28 duplication syndrome | -| GARD:20913 | Y chromosome number anomaly | -| GARD:7914 | Yellow fever | -| GARD:184 | Yellow nail syndrome | -| GARD:348 | Yolk sac tumor | -| GARD:20733 | Yolk sac tumor of central nervous system | -| GARD:17421 | Young adult-onset distal hereditary motor neuropathy | -| GARD:341 | Young syndrome | -| GARD:16610 | Young-onset Parkinson disease | -| GARD:331 | Yunis-Varon syndrome | -| GARD:19354 | Zebra body myopathy | -| GARD:10582 | Zechi-Ceide syndrome | -| GARD:7917 | Zellweger syndrome | -| GARD:18841 | Zellweger-like syndrome without peroxisomal anomalies | -| GARD:12894 | Zika virus disease | -| GARD:385 | Zimmermann-Laband syndrome | -| GARD:15071 | Zimmermann-laband syndrome 1 | -| GARD:16115 | Zimmermann-laband syndrome 2 | -| GARD:16371 | Zimmermann-laband syndrome 3 | -| GARD:21825 | Zinc-responsive necrolytic acral erythema | -| GARD:7918 | Zollinger-Ellison syndrome | -| GARD:17357 | Zygodactyly type 1 | -| GARD:21214 | Zygodactyly type 2 | -| GARD:21215 | Zygodactyly type 3 | -| GARD:21216 | Zygodactyly type 4 | -| GARD:10224 | Zygomycosis | -| GARD:10574 | Åland Islands eye disease | \ No newline at end of file diff --git a/docs/sources/gard.md b/docs/sources/gard.md deleted file mode 100644 index bc9ab641..00000000 --- a/docs/sources/gard.md +++ /dev/null @@ -1,18 +0,0 @@ -# MONDO - GARD Alignment - -**Source name:** GARD - -**Source description:** The GARD mapping is mainly curated through the GARD-ORDO and GARD-OMIM mappings. From the GARD developers, we have confirmed that, For a given GARD ID, GARD guarantees no other concept will be assigned in the future. The concept will not be assigned to a different GARD ID, but this GARD ID may be retired when a similar but more accurate concept is created under a new GARD ID to replace this GARD ID. - - -**Homepage:** None - -**Comments about this source:** None - - - - - -The data pipeline that generates the source is implemented in `make`, in this source file: [src/ontology/mondo-ingest.Makefile](https://github.com/monarch-initiative/mondo-ingest/blob/main/src/ontology/mondo-ingest.Makefile). - -You can make issues or ask questions about this source [here](https://github.com/monarch-initiative/mondo-ingest/issues). diff --git a/mkdocs.yaml b/mkdocs.yaml index cd3d77f2..c35841bf 100644 --- a/mkdocs.yaml +++ b/mkdocs.yaml @@ -25,7 +25,6 @@ nav: - Mondo sources: - Overview: sources.md - DO: sources/doid.md - - GARD: sources/gard.md - ICD10CM: sources/icd10cm.md - ICD10WHO: sources/icd10who.md - ICD11Foundation: sources/icd11foundation.md @@ -38,7 +37,6 @@ nav: - Mondo source metrics: - Overview: metrics.md - DO: metrics/doid.md - - GARD: metrics/gard.md - ICD10CM: metrics/icd10cm.md - ICD10WHO: metrics/icd10who.md - ICD11Foundation: metrics/icd11foundation.md diff --git a/src/ontology/Makefile b/src/ontology/Makefile index 9bfb57cc..6f6ca0ef 100644 --- a/src/ontology/Makefile +++ b/src/ontology/Makefile @@ -10,7 +10,7 @@ # More information: https://github.com/INCATools/ontology-development-kit/ # Fingerprint of the configuration file when this Makefile was last generated -CONFIG_HASH= 1f779a242dc046d5c98b39bde1a60c2488195d1ad6e0a21ee94bac1ae0f05b98 +CONFIG_HASH= 96106b155c56dcf985ea2dc716aaaeb0cb34f47bbe55cb1cae81a9895138f6bf # ---------------------------------------- @@ -54,7 +54,7 @@ OBODATE ?= $(shell date +'%d:%m:%Y %H:%M') VERSION= $(TODAY) ANNOTATE_ONTOLOGY_VERSION = annotate -V $(ONTBASE)/releases/$(VERSION)/$@ --annotation owl:versionInfo $(VERSION) ANNOTATE_CONVERT_FILE = annotate --ontology-iri $(ONTBASE)/$@ $(ANNOTATE_ONTOLOGY_VERSION) convert -f ofn --output $@.tmp.owl && mv $@.tmp.owl $@ -OTHER_SRC = $(COMPONENTSDIR)/doid.owl $(COMPONENTSDIR)/gard.owl $(COMPONENTSDIR)/icd10cm.owl $(COMPONENTSDIR)/icd10who.owl $(COMPONENTSDIR)/icd11foundation.owl $(COMPONENTSDIR)/ncit.owl $(COMPONENTSDIR)/omim.owl $(COMPONENTSDIR)/ordo.owl +OTHER_SRC = $(COMPONENTSDIR)/doid.owl $(COMPONENTSDIR)/icd10cm.owl $(COMPONENTSDIR)/icd10who.owl $(COMPONENTSDIR)/icd11foundation.owl $(COMPONENTSDIR)/ncit.owl $(COMPONENTSDIR)/omim.owl $(COMPONENTSDIR)/ordo.owl ONTOLOGYTERMS = $(TMPDIR)/ontologyterms.txt EDIT_PREPROCESSED = $(TMPDIR)/$(ONT)-preprocess.owl @@ -443,20 +443,6 @@ $(COMPONENTSDIR)/doid.owl: component-download-doid.owl .PRECIOUS: $(COMPONENTSDIR)/doid.owl -.PHONY: component-download-gard.owl -component-download-gard.owl: | $(TMPDIR) - if [ $(MIR) = true ] && [ $(COMP) = true ]; then $(ROBOT) merge -I https://github.com/monarch-initiative/gard/releases/latest/download/gard.owl \ - annotate --ontology-iri $(ONTBASE)/$@ $(ANNOTATE_ONTOLOGY_VERSION) -o $(TMPDIR)/$@.owl; fi - -$(COMPONENTSDIR)/gard.owl: component-download-gard.owl - if [ $(COMP) = true ]; then if cmp -s $(TMPDIR)/component-download-gard.owl.owl $(TMPDIR)/component-download-gard.owl.tmp.owl ; then echo "Component identical."; \ - else echo "Component is different, updating." &&\ - cp $(TMPDIR)/component-download-gard.owl.owl $(TMPDIR)/component-download-gard.owl.tmp.owl &&\ - $(ROBOT) annotate -i $(TMPDIR)/component-download-gard.owl.owl --ontology-iri $(ONTBASE)/$@ $(ANNOTATE_ONTOLOGY_VERSION) -o $@; fi; fi - -.PRECIOUS: $(COMPONENTSDIR)/gard.owl - - .PHONY: component-download-icd10cm.owl component-download-icd10cm.owl: | $(TMPDIR) if [ $(MIR) = true ] && [ $(COMP) = true ]; then $(ROBOT) merge -I https://data.bioontology.org/ontologies/ICD10CM/submissions/23/download?apikey=8b5b7825-538d-40e0-9e9e-5ab9274a9aeb \ diff --git a/src/ontology/config/gard_exclusions.tsv b/src/ontology/config/gard_exclusions.tsv deleted file mode 100644 index bdde4626..00000000 --- a/src/ontology/config/gard_exclusions.tsv +++ /dev/null @@ -1 +0,0 @@ -term_id term_label exclusion_reason exclude_children diff --git a/src/ontology/metadata/gard.yml b/src/ontology/metadata/gard.yml deleted file mode 100644 index fdbd80ec..00000000 --- a/src/ontology/metadata/gard.yml +++ /dev/null @@ -1,12 +0,0 @@ -id: GARD -prefix_map: - GARD: http://purl.obolibrary.org/obo/GARD_ -description: > - The GARD mapping is mainly curated through the GARD-ORDO and GARD-OMIM mappings. - From the GARD developers, we have confirmed that, For a given GARD ID, - GARD guarantees no other concept will be assigned in the future. - The concept will not be assigned to a different GARD ID, but this GARD ID may be retired - when a similar but more accurate concept is created under a new GARD ID to replace this GARD ID. -homepage: -base_prefix_map: - GARD: http://purl.obolibrary.org/obo/GARD_ diff --git a/src/ontology/mondo-ingest-odk.yaml b/src/ontology/mondo-ingest-odk.yaml index 1320b2d2..38638a8d 100644 --- a/src/ontology/mondo-ingest-odk.yaml +++ b/src/ontology/mondo-ingest-odk.yaml @@ -27,8 +27,6 @@ components: products: - filename: doid.owl source: http://purl.obolibrary.org/obo/doid.owl - - filename: gard.owl - source: https://github.com/monarch-initiative/gard/releases/latest/download/gard.owl - filename: icd10cm.owl source: https://data.bioontology.org/ontologies/ICD10CM/submissions/23/download?apikey=8b5b7825-538d-40e0-9e9e-5ab9274a9aeb - filename: icd10who.owl diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index 56f44d16..edb0e67a 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -175,11 +175,6 @@ $(COMPONENTSDIR)/icd11foundation.owl: $(TMPDIR)/icd11foundation_relevant_signatu remove -T config/properties.txt --select complement --select properties --trim true \ annotate --ontology-iri $(URIBASE)/mondo/sources/icd11foundation.owl --version-iri $(URIBASE)/mondo/sources/$(TODAY)/icd11foundation.owl -o $@; fi -$(COMPONENTSDIR)/gard.owl: $(TMPDIR)/gard_relevant_signature.txt | component-download-gard.owl - if [ $(COMP) = true ]; then $(ROBOT) remove -i $(TMPDIR)/component-download-gard.owl.owl --select imports \ - remove -T $(TMPDIR)/gard_relevant_signature.txt --select complement --select "classes individuals" --trim false \ - annotate --ontology-iri $(URIBASE)/mondo/sources/gard.owl --version-iri $(URIBASE)/mondo/sources/$(TODAY)/gard.owl -o $@; fi - $(ONT)-full.owl: $(SRC) $(OTHER_SRC) $(IMPORT_FILES) $(ROBOT) merge $(patsubst %, -i %, $^) \ reason --reasoner ELK --equivalent-classes-allowed asserted-only --exclude-tautologies structural \ diff --git a/src/ontology/reports/component_signature-gard.tsv b/src/ontology/reports/component_signature-gard.tsv deleted file mode 100644 index 1784ddc9..00000000 --- a/src/ontology/reports/component_signature-gard.tsv +++ /dev/null @@ -1,12005 +0,0 @@ -?term - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 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a/src/ontology/reports/gard_excluded_terms_in_mondo_xrefs.tsv b/src/ontology/reports/gard_excluded_terms_in_mondo_xrefs.tsv deleted file mode 100644 index e7364156..00000000 --- a/src/ontology/reports/gard_excluded_terms_in_mondo_xrefs.tsv +++ /dev/null @@ -1 +0,0 @@ -term_id term_label 1_in_mirror_tsv 2_in_component_tsv 3_in_mondo_xrefs in1_notIn2_in3 diff --git a/src/ontology/reports/gard_excluded_terms_in_mondo_xrefs_summary.tsv b/src/ontology/reports/gard_excluded_terms_in_mondo_xrefs_summary.tsv deleted file mode 100644 index f8823b9c..00000000 --- a/src/ontology/reports/gard_excluded_terms_in_mondo_xrefs_summary.tsv +++ /dev/null @@ -1,2 +0,0 @@ -n_in1_notIn2_in3 pct_in1_notIn2_in3__over_in1 -0 0 diff --git a/src/ontology/reports/gard_exclusion_reasons.robot.template.tsv b/src/ontology/reports/gard_exclusion_reasons.robot.template.tsv deleted file mode 100644 index e95ac5e0..00000000 --- a/src/ontology/reports/gard_exclusion_reasons.robot.template.tsv +++ /dev/null @@ -1,2 +0,0 @@ -term_id exclusion_reason -ID AI MONDOREL:has_exclusion_reason diff --git a/src/ontology/reports/gard_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/gard_mapped_deprecated_terms.robot.template.tsv deleted file mode 100644 index a75b0682..00000000 --- a/src/ontology/reports/gard_mapped_deprecated_terms.robot.template.tsv +++ /dev/null @@ -1,2 +0,0 @@ -mondo_id source_id source -ID A oboInOwl:hasDbXref >A oboInOwl:source diff --git a/src/ontology/reports/gard_mapping_status.tsv b/src/ontology/reports/gard_mapping_status.tsv deleted file mode 100644 index 2653d926..00000000 --- a/src/ontology/reports/gard_mapping_status.tsv +++ /dev/null @@ -1,12005 +0,0 @@ -subject_id subject_label is_mapped is_excluded is_deprecated -GARD:1 GRACILE syndrome False False False -GARD:10000 Spinocerebellar ataxia with axonal neuropathy type 1 False False False -GARD:10001 Congenital chloride diarrhea False False False -GARD:10005 Familial progressive cardiac conduction defect False False False -GARD:10007 Immunodeficiency 61 False False False -GARD:10009 Opsoclonus-myoclonus syndrome False False False -GARD:10010 Self-improving dystrophic epidermolysis bullosa False False False -GARD:10011 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome False False False -GARD:10012 Camptodactyly-tall stature-scoliosis-hearing loss syndrome False False False -GARD:10014 Pellagra False False False -GARD:10018 Fuchs endothelial corneal dystrophy False False False -GARD:1002 X-linked mandibulofacial dysostosis False False False -GARD:10023 Bruck syndrome 2 False False False -GARD:10024 Whistling face syndrome, recessive form False False False -GARD:10025 Anterior segment developmental anomaly False False False -GARD:10027 Campomelic dysplasia False False False -GARD:10028 Benign recurrent intrahepatic cholestasis type 1 False False False -GARD:10029 Benign recurrent intrahepatic cholestasis type 2 False False False -GARD:10033 Aneurysm, intracranial berry, 2 False False False -GARD:10034 Congenital trigeminal anesthesia False False False -GARD:10037 Familial encephalopathy with neuroserpin inclusion bodies False False False -GARD:10039 Hydroxykynureninuria False False False -GARD:10041 Burn-McKeown syndrome False False False -GARD:10043 Usher syndrome, type if False False False -GARD:10045 Congenital bile acid synthesis defect type 2 False False False -GARD:10046 Congenital bile acid synthesis defect type 4 False False False -GARD:10047 Glutathione synthetase deficiency False False False -GARD:10048 Isolated congenital anonychia False False False -GARD:10049 Central areolar choroidal dystrophy False False False -GARD:10050 Bietti crystalline dystrophy False False False -GARD:10051 Limb-mammary syndrome False False False -GARD:10053 Lipomyelomeningocele False False False -GARD:10054 Eye defects-arachnodactyly-cardiopathy syndrome False False False -GARD:10056 Mandibulofacial dysostosis-microcephaly syndrome False False False -GARD:10057 Spondyloepimetaphyseal dysplasia, Geneviève type False False False -GARD:10061 Talo-patello-scaphoid osteolysis False False False -GARD:10066 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome False False False -GARD:10070 Subependymoma False False False -GARD:10072 Diaphyseal medullary stenosis-bone malignancy syndrome False False False -GARD:10075 Dermatitis herpetiformis, familial False False False -GARD:10081 White forelock with malformations False False False -GARD:10082 Infantile osteopetrosis with neuroaxonal dysplasia False False False -GARD:10083 Hepatic veno-occlusive disease-immunodeficiency syndrome False False False -GARD:10084 Hemifacial myohyperplasia False False False -GARD:10088 Majeed syndrome False False False -GARD:10089 TARP syndrome False False False -GARD:10090 Pierre robin sequence with pectus excavatum and rib and scapular anomalies False False False -GARD:10091 Sotos syndrome False False False -GARD:10092 Hemochromatosis type 2 False False False -GARD:10093 Hemochromatosis type 3 False False False -GARD:10094 Hemochromatosis type 4 False False False -GARD:10095 Migraine, familial hemiplegic, 2 False False False -GARD:10096 Hereditary leiomyomatosis and renal cell cancer False False False -GARD:10097 Leiomyoma of vulva and esophagus False False False -GARD:10099 Gamma-glutamyl transpeptidase deficiency False False False -GARD:101 Centronuclear myopathy False False False -GARD:10101 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome False False False -GARD:10103 Elastosis perforans serpiginosa False False False -GARD:10104 Pseudoxanthoma elasticum, forme fruste False False False -GARD:10106 Osteopetrosis-hypogammaglobulinemia syndrome False False False -GARD:10108 Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency False False False -GARD:10109 Cornelia de Lange syndrome False False False -GARD:10111 Nemaline myopathy 3 False False False -GARD:10116 Ichthyosis-hypotrichosis syndrome False False False -GARD:10118 Oguchi disease False False False -GARD:10119 Cone dystrophy, x-linked, with tapetal-like sheen False False False -GARD:10120 Macular dystrophy, vitelliform, 1 False False False -GARD:10121 MORM syndrome False False False -GARD:10123 Progressive bifocal chorioretinal atrophy False False False -GARD:10126 GM1 gangliosidosis type 2 False False False -GARD:10127 Leydig cell hypoplasia due to LHB deficiency False False False -GARD:10128 Isolated follicle stimulating hormone deficiency False False False -GARD:10129 Isolated thyroid-stimulating hormone deficiency False False False -GARD:10130 Monosomy 22q13.3 False False False -GARD:10131 Hereditary motor and sensory neuropathy, Okinawa type False False False -GARD:10132 Charcot-Marie-Tooth disease type 4G False False False -GARD:10133 Distal hereditary motor neuropathy, Jerash type False False False -GARD:10138 Primary dystonia, DYT4 type False False False -GARD:10140 Bohring-Opitz syndrome False False False -GARD:10142 Osteogenesis imperfecta type 2 False False False -GARD:10144 Dentinogenesis imperfecta type 3 False False False -GARD:10145 17p11.2 microduplication syndrome False False False -GARD:10147 BOR syndrome False False False -GARD:10148 Branchiootic syndrome False False False -GARD:10149 Kyphomelic dysplasia False False False -GARD:10151 Aicardi-goutieres syndrome 5 False False False -GARD:10152 Osteogenesis imperfecta, type viii False False False -GARD:10153 Pulmonary venoocclusive disease False False False -GARD:10156 Congenital chylothorax False False False -GARD:10163 Curly hair-acral keratoderma-caries syndrome False False False -GARD:10167 Joubert syndrome 2 False False False -GARD:10168 Joubert syndrome with ocular defect False False False -GARD:10169 Joubert syndrome with renal defect False False False -GARD:1017 Osteogenesis imperfecta False False False -GARD:10173 Florid cemento-osseous dysplasia False False False -GARD:10175 Klatskin tumor False False False -GARD:10177 Mirizzi syndrome False False False -GARD:10179 Brooke-Spiegler syndrome False False False -GARD:10181 Epithelioid sarcoma False False False -GARD:10184 Hereditary cryohydrocytosis with normal stomatin False False False -GARD:10188 Angioma serpiginosum, x-linked False False False -GARD:10189 Angioma serpiginosum, autosomal dominant False False False -GARD:1019 Brittle cornea syndrome False False False -GARD:10190 Isolated focal cortical dysplasia type II False False False -GARD:10193 Subcutaneous panniculitis-like T-cell lymphoma False False False -GARD:10199 Early-onset X-linked optic atrophy False False False -GARD:102 Neu-Laxova syndrome False False False -GARD:10200 Optic atrophy 6 False False False -GARD:10201 Optic atrophy 5 False False False -GARD:10202 2q37 microdeletion syndrome False False False -GARD:10203 Autosomal dominant optic atrophy and cataract False False False -GARD:10204 Bardet-biedl syndrome 5 False False False -GARD:10205 Bardet-biedl syndrome 6 False False False -GARD:10206 Bardet-biedl syndrome 7 False False False -GARD:10207 Bardet-biedl syndrome 8 False False False -GARD:10208 Bardet-biedl syndrome 9 False False False -GARD:10209 Bardet-biedl syndrome 10 False False False -GARD:10210 Bardet-biedl syndrome 11 False False False -GARD:10211 Bardet-biedl syndrome 12 False False False -GARD:10212 Lipodystrophy, congenital generalized, type 2 False False False -GARD:10213 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 False False False -GARD:10214 Neonatal intrahepatic cholestasis due to citrin deficiency False False False -GARD:10215 Citrullinemia type II False False False -GARD:10216 NDE1-related microhydranencephaly False False False -GARD:10220 Spondyloepiphyseal dysplasia with metatarsal shortening False False False -GARD:10221 HNF1B-related autosomal dominant tubulointerstitial kidney disease False False False -GARD:10223 Isobutyryl-CoA dehydrogenase deficiency False False False -GARD:10224 Zygomycosis False False False -GARD:10225 Multiple endocrine neoplasia type 2B False False False -GARD:10226 COG1-CDG False False False -GARD:10229 Autosomal dominant limb-girdle muscular dystrophy type 1A False False False -GARD:10230 Emery-dreifuss muscular dystrophy 2, autosomal dominant False False False -GARD:10237 Biotin-thiamine-responsive basal ganglia disease False False False -GARD:10238 Myostatin-related muscle hypertrophy False False False -GARD:10239 H syndrome False False False -GARD:10241 Diamond-blackfan anemia 3 False False False -GARD:10244 Familial lipase maturation factor 1 deficiency False False False -GARD:10247 Down syndrome False False False -GARD:10248 Rare disease with autism False False False -GARD:1025 Bronchogenic cyst False False False -GARD:10252 Primary Sjögren syndrome False False False -GARD:10263 Hydatidiform mole False False False -GARD:10266 Hereditary cerebral hemorrhage with amyloidosis False False False -GARD:10267 Hyper-beta-alaninemia False False False -GARD:10277 Adducted thumbs-arthrogryposis syndrome, Christian type False False False -GARD:10280 Isolated Klippel-Feil syndrome False False False -GARD:10281 Axenfeld-rieger syndrome, type 1 False False False -GARD:10283 Desmosterolosis False False False -GARD:10287 Rolandic epilepsy False False False -GARD:10288 Neutral lipid storage myopathy False False False -GARD:1029 Bruck syndrome False False False -GARD:10290 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia False False False -GARD:10291 Linear nevus sebaceus syndrome False False False -GARD:10294 Autosomal recessive ataxia due to ubiquinone deficiency False False False -GARD:10295 Syndactyly-telecanthus-anogenital and renal malformations syndrome False False False -GARD:10296 15q13.3 microdeletion syndrome False False False -GARD:10297 Ghosal hematodiaphyseal dysplasia False False False -GARD:10299 22q11.2 deletion syndrome False False False -GARD:1030 Brugada syndrome False False False -GARD:10300 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome False False False -GARD:10301 Autosomal recessive bestrophinopathy False False False -GARD:10302 SERKAL syndrome False False False -GARD:10303 Autism-facial port-wine stain syndrome False False False -GARD:10304 8p23.1 duplication syndrome False False False -GARD:10306 Nephrogenic syndrome of inappropriate antidiuresis False False False -GARD:10307 Congenital disorder of glycosylation False False False -GARD:10311 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency False False False -GARD:10312 Neurogenic scapuloperoneal syndrome, Kaeser type False False False -GARD:10313 MYH7-related late-onset scapuloperoneal muscular dystrophy False False False -GARD:10314 Scapuloperoneal spinal muscular atrophy False False False -GARD:10316 Congenital multicore myopathy with external ophthalmoplegia False False False -GARD:10317 Megaconial congenital muscular dystrophy False False False -GARD:10319 Autosomal dominant prognathism False False False -GARD:10320 Corneal dystrophy, lattice type iiia False False False -GARD:10321 3-methylglutaconic aciduria type 1 False False False -GARD:10322 2-methylbutyryl-CoA dehydrogenase deficiency False False False -GARD:10323 L-Arginine:glycine amidinotransferase deficiency False False False -GARD:10324 Mild phenylketonuria False False False -GARD:10327 Progressive encephalopathy with leukodystrophy due to DECR deficiency False False False -GARD:1033 X-linked agammaglobulinemia False False False -GARD:10332 Tyrosinemia type 3 False False False -GARD:10333 Sickle cell-beta-thalassemia disease syndrome False False False -GARD:10335 Mucopolysaccharidosis type 1 False False False -GARD:10339 Severe combined immunodeficiency due to complete RAG1/2 deficiency False False False -GARD:10341 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome False False False -GARD:10342 3-methylglutaconic aciduria type 4 False False False -GARD:10346 Gamma-heavy chain disease False False False -GARD:10351 Spinocerebellar ataxia type 6 False False False -GARD:10352 Familial platelet disorder with associated myeloid malignancy False False False -GARD:10353 Porphyria False False False -GARD:10354 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome False False False -GARD:10355 Familial congenital palsy of trochlear nerve False False False -GARD:10358 Intellectual disability, Birk-Barel type False False False -GARD:10359 Paralysis agitans, juvenile, of hunt False False False -GARD:10360 3q29 microduplication syndrome False False False -GARD:10361 Brugada syndrome 3 False False False -GARD:10362 Brugada syndrome 4 False False False -GARD:10363 Idiopathic trachyonychia False False False -GARD:10364 Jervell and lange-nielsen syndrome 2 False False False -GARD:10365 Dopa-responsive dystonia due to sepiapterin reductase deficiency False False False -GARD:10366 Toriello-Lacassie-Droste syndrome False False False -GARD:10367 Lelis syndrome False False False -GARD:1037 Primary basilar invagination False False False -GARD:10372 Trehalase deficiency False False False -GARD:10373 Trichoepithelioma, multiple familial, 2 False False False -GARD:10376 Retinitis pigmentosa 12 False False False -GARD:10377 Retinitis pigmentosa 6 False False False -GARD:10378 Retinitis pigmentosa 29 False False False -GARD:10379 Retinitis pigmentosa 41 False False False -GARD:1038 Hereditary bullous dystrophy, macular type False False False -GARD:10380 Retinitis pigmentosa 2 False False False -GARD:10381 Retinitis pigmentosa 3 False False False -GARD:10382 Retinitis pigmentosa 9 False False False -GARD:10383 Retinitis pigmentosa 11 False False False -GARD:10384 Retinitis pigmentosa 25 False False False -GARD:10385 Retinitis pigmentosa 14 False False False -GARD:10386 Retinitis pigmentosa 7 False False False -GARD:10387 Retinitis pigmentosa 17 False False False -GARD:10388 Retinitis pigmentosa 13 False False False -GARD:10389 Retinitis pigmentosa 24 False False False -GARD:1039 Autosomal dominant epidermolytic ichthyosis False False False -GARD:10390 Retinitis pigmentosa 34 False False False -GARD:10391 Retinitis pigmentosa 23 False False False -GARD:10392 Retinitis pigmentosa 18 False False False -GARD:10393 Retinitis pigmentosa 22 False False False -GARD:10394 Retinitis pigmentosa 28 False False False -GARD:10395 Retinitis pigmentosa 32 False False False -GARD:10396 Retinitis pigmentosa 31 False False False -GARD:10397 Retinitis pigmentosa 26 False False False -GARD:10398 Retinitis pigmentosa 19 False False False -GARD:104 Ochoa syndrome False False False -GARD:10400 Retinitis pigmentosa 33 False False False -GARD:10401 Retinitis pigmentosa 30 False False False -GARD:10402 Retinitis pigmentosa 35 False False False -GARD:10403 Retinitis pigmentosa 36 False False False -GARD:10404 Retinitis pigmentosa 20 False False False -GARD:10405 Retinitis pigmentosa 4 False False False -GARD:10407 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome False False False -GARD:10411 Small cell carcinoma of the ovary False False False -GARD:10413 Autosomal dominant polycystic kidney disease False False False -GARD:10414 Goblet cell carcinoma False False False -GARD:10416 Homozygous familial hypercholesterolemia False False False -GARD:10417 Symptomatic form of hemochromatosis type 1 False False False -GARD:10418 Hemophilia False False False -GARD:10419 Myotonic dystrophy False False False -GARD:10423 Coenzyme Q10 deficiency False False False -GARD:10424 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy False False False -GARD:10427 X-linked hypohidrotic ectodermal dysplasia False False False -GARD:10428 Pure autonomic failure False False False -GARD:10429 Autosomal dominant brachyolmia False False False -GARD:10430 Dravet syndrome False False False -GARD:10432 Cardiac arrhythmia, ankyrin-b-related False False False -GARD:10433 Long qt syndrome 5 False False False -GARD:10434 Long qt syndrome 6 False False False -GARD:10435 Long qt syndrome 9 False False False -GARD:10436 Long qt syndrome 10 False False False -GARD:10437 Long qt syndrome 11 False False False -GARD:1044 Buschke-Ollendorff syndrome False False False -GARD:10443 Pediatric multiple sclerosis False False False -GARD:10445 Transaldolase deficiency False False False -GARD:10453 Perry syndrome False False False -GARD:10457 Isolated permanent neonatal diabetes mellitus False False False -GARD:10460 GCGR-related hyperglucagonemia False False False -GARD:10467 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome False False False -GARD:10469 Spinocerebellar ataxia type 17 False False False -GARD:10471 Telethonin-related limb-girdle muscular dystrophy R7 False False False -GARD:10472 L-2-hydroxyglutaric aciduria False False False -GARD:10474 Spinocerebellar ataxia type 10 False False False -GARD:10475 Spinocerebellar ataxia type 11 False False False -GARD:10476 Spinocerebellar ataxia type 12 False False False -GARD:10477 Spinocerebellar ataxia type 15/16 False False False -GARD:10480 Spinocerebellar ataxia type 29 False False False -GARD:10484 Infantile dystonia-parkinsonism False False False -GARD:10486 Craniopharyngioma False False False -GARD:10487 Leber congenital amaurosis 10 False False False -GARD:10488 Leber congenital amaurosis 11 False False False -GARD:10489 Leber congenital amaurosis 12 False False False -GARD:1049 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy False False False -GARD:10490 Leber congenital amaurosis 6 False False False -GARD:10491 Langerhans cell sarcoma False False False -GARD:10493 Aggressive NK-cell leukemia False False False -GARD:10494 Meconium aspiration syndrome False False False -GARD:10496 Amyotrophic lateral sclerosis 11 False False False -GARD:10498 Amyotrophic lateral sclerosis 9 False False False -GARD:10499 Amyotrophic lateral sclerosis 8 False False False -GARD:105 Oculocerebral hypopigmentation syndrome, Cross type False False False -GARD:10500 Amyotrophic lateral sclerosis 7 False False False -GARD:10501 Amyotrophic lateral sclerosis 3 False False False -GARD:10502 Amyotrophic lateral sclerosis type 4 False False False -GARD:10504 Craniorachischisis False False False -GARD:10505 Cryptophthalmia False False False -GARD:10506 Iniencephaly False False False -GARD:10508 Bartter syndrome type 4 False False False -GARD:10509 Acquired partial lipodystrophy False False False -GARD:1051 Caffey disease False False False -GARD:10510 Juvenile Huntington disease False False False -GARD:10511 Sorsby fundus dystrophy False False False -GARD:10513 Spondyloepimetaphyseal dysplasia, aggrecan type False False False -GARD:10514 EAST syndrome False False False -GARD:10515 Congenital tracheomalacia False False False -GARD:10516 Sterile multifocal osteomyelitis with periostitis and pustulosis False False False -GARD:10517 Axenfeld-rieger syndrome, type 2 False False False -GARD:10518 Orofaciodigital syndrome type 3 False False False -GARD:1052 Cataract-hypertrichosis-intellectual disability syndrome False False False -GARD:10520 Orofaciodigital syndrome type 9 False False False -GARD:10522 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome False False False -GARD:10523 Combined immunodeficiency due to STIM1 deficiency False False False -GARD:10524 Combined immunodeficiency due to ORAI1 deficiency False False False -GARD:10525 15q11.2 microdeletion syndrome False False False -GARD:10526 Ectodermal dysplasia with natal teeth, Turnpenny type False False False -GARD:10528 Gingival fibromatosis-facial dysmorphism syndrome False False False -GARD:10529 Myofibrillar myopathy False False False -GARD:1053 Limited cutaneous systemic sclerosis False False False -GARD:10533 X-linked dystonia-parkinsonism False False False -GARD:10536 Primary dystonia, DYT17 type False False False -GARD:10537 Primary dystonia, DYT13 type False False False -GARD:10538 Autosomal recessive spastic paraplegia type 35 False False False -GARD:10539 Dystonia 16 False False False -GARD:10541 Paroxysmal exertion-induced dyskinesia False False False -GARD:10544 Paragangliomas 2 False False False -GARD:10545 Paragangliomas 3 False False False -GARD:10546 Paragangliomas 4 False False False -GARD:10556 CD4+/CD56+ hematodermic neoplasm False False False -GARD:10557 22q11.2 duplication syndrome False False False -GARD:10559 Primary interstitial lung disease specific to childhood False False False -GARD:10560 AA amyloidosis False False False -GARD:10562 Nodular cutaneous amyloidosis False False False -GARD:1057 Calpain-3-related limb-girdle muscular dystrophy R1 False False False -GARD:10570 Bartsocas-papas syndrome 1 False False False -GARD:10572 Christianson syndrome False False False -GARD:10573 Camptodactyly syndrome, Guadalajara type 3 False False False -GARD:10574 Åland Islands eye disease False False False -GARD:10578 Hyper-IgM syndrome type 2 False False False -GARD:10579 Hyper-IgM syndrome type 3 False False False -GARD:1058 X-linked calvarial hyperostosis False False False -GARD:10580 Hyper-IgM syndrome type 4 False False False -GARD:10581 Hyper-IgM syndrome type 5 False False False -GARD:10582 Zechi-Ceide syndrome False False False -GARD:10583 Neonatal ichthyosis-sclerosing cholangitis syndrome False False False -GARD:10584 Mesomelic dysplasia, Savarirayan type False False False -GARD:10585 Chronic neutrophilic leukemia False False False -GARD:10586 Loeys-dietz syndrome 2 False False False -GARD:10587 Adult-onset autosomal dominant leukodystrophy False False False -GARD:10588 Loeys-dietz syndrome 4 False False False -GARD:10590 Mesoaxial synostotic syndactyly with phalangeal reduction False False False -GARD:10591 1q21.1 microduplication syndrome False False False -GARD:10592 19q13.11 microdeletion syndrome False False False -GARD:10593 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins False False False -GARD:10594 Neurodegenerative syndrome due to cerebral folate transport deficiency False False False -GARD:10595 BNAR syndrome False False False -GARD:10597 Complete androgen insensitivity syndrome False False False -GARD:106 Oculocerebrocutaneous syndrome False False False -GARD:10601 Pituitary hormone deficiency, combined 1 False False False -GARD:10602 Combined pituitary hormone deficiencies, genetic forms False False False -GARD:10603 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome False False False -GARD:10604 Short stature-pituitary and cerebellar defects-small sella turcica syndrome False False False -GARD:10605 Acrocapitofemoral dysplasia False False False -GARD:10608 Atelosteogenesis type III False False False -GARD:10609 Growth delay due to insulin-like growth factor I resistance False False False -GARD:1061 Campomelia, Cumming type False False False -GARD:10611 Spondyloepimetaphyseal dysplasia, matrilin-3 type False False False -GARD:10612 Thoracomelic dysplasia False False False -GARD:10614 Adrenomyeloneuropathy False False False -GARD:10615 Telangiectasia, hereditary hemorrhagic, type 4 False False False -GARD:10616 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome False False False -GARD:10617 Congenital cystic eye False False False -GARD:10618 Spondyloepimetaphyseal dysplasia, Missouri type False False False -GARD:10619 Osteogenesis imperfecta, type ix False False False -GARD:1062 Camptobrachydactyly False False False -GARD:10620 Smith-McCort dysplasia False False False -GARD:10623 Cleidocranial dysplasia, recessive form False False False -GARD:10624 Spondyloepiphyseal dysplasia tarda False False False -GARD:10625 Complement component 8 deficiency, type ii False False False -GARD:10626 Complement component 8 deficiency, type i False False False -GARD:10627 Growth delay due to insulin-like growth factor type 1 deficiency False False False -GARD:10629 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome False False False -GARD:1063 Idiopathic camptocormia False False False -GARD:10630 Congenital tufting enteropathy False False False -GARD:10631 Pleomorphic xanthoastrocytoma False False False -GARD:10632 Subependymal giant cell astrocytoma False False False -GARD:10633 Myxopapillary ependymoma False False False -GARD:10634 Anaplastic ependymoma False False False -GARD:10635 Astroblastoma False False False -GARD:10637 Anaplastic oligoastrocytoma False False False -GARD:10638 Gangliocytoma False False False -GARD:10639 Anaplastic ganglioglioma False False False -GARD:1064 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome False False False -GARD:10640 Dysembryoplastic neuroepithelial tumor False False False -GARD:10641 Central neurocytoma False False False -GARD:10642 Cerebellar liponeurocytoma False False False -GARD:10643 Carney-Stratakis syndrome False False False -GARD:10644 Pineal parenchymal tumor of intermediate differenciation False False False -GARD:10645 Dent disease type 2 False False False -GARD:10647 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome False False False -GARD:10648 Retinal cone dystrophy 3a False False False -GARD:10649 Cone dystrophy with supernormal rod response False False False -GARD:10650 Retinal cone dystrophy 4 False False False -GARD:10651 Cone-rod dystrophy 1 False False False -GARD:10652 Cone-rod dystrophy, x-linked, 1 False False False -GARD:10653 Cone-rod dystrophy 3 False False False -GARD:10654 Cone-rod dystrophy, x-linked, 3 False False False -GARD:10655 Cone-rod dystrophy 5 False False False -GARD:10656 Cone-rod dystrophy 6 False False False -GARD:10657 Maturity-onset diabetes of the young, type 2 False False False -GARD:10658 Maturity-onset diabetes of the young, type 3 False False False -GARD:10659 Maturity-onset diabetes of the young, type 4 False False False -GARD:10660 Maturity-onset diabetes of the young, type 6 False False False -GARD:10661 Maturity-onset diabetes of the young, type 7 False False False -GARD:10662 Maturity-onset diabetes of the young, type 8, with exocrine dysfunction False False False -GARD:10663 Maturity-onset diabetes of the young, type 9 False False False -GARD:10664 Baroreflex failure False False False -GARD:10667 Autosomal dominant focal dystonia, DYT25 type False False False -GARD:1067 Camptodactyly syndrome, Guadalajara type 1 False False False -GARD:10670 Glycoproteinosis False False False -GARD:10675 Fetal Gaucher disease False False False -GARD:10679 UMOD-related autosomal dominant tubulointerstitial kidney disease False False False -GARD:1068 Camptodactyly syndrome, Guadalajara type 2 False False False -GARD:10680 Pseudohypoparathyroidism type 1B False False False -GARD:10681 Pseudohypoparathyroidism type 1C False False False -GARD:10682 Pseudohypoparathyroidism type 2 False False False -GARD:10684 Primary lateral sclerosis False False False -GARD:10686 Neuroferritinopathy False False False -GARD:10688 Neurodegeneration with brain iron accumulation 2b False False False -GARD:1069 Camptodactyly-taurinuria syndrome False False False -GARD:10691 Duane retraction syndrome 3 with or without deafness False False False -GARD:10692 Orofaciodigital syndrome False False False -GARD:10693 Orofaciodigital syndrome type 12 False False False -GARD:10694 Orofaciodigital syndrome type 13 False False False -GARD:10695 Atrial septal defect, ostium primum type False False False -GARD:10696 Atrial septal defect, sinus venosus type False False False -GARD:10697 Atrial septal defect, coronary sinus type False False False -GARD:10698 Noonan syndrome 2 False False False -GARD:10699 Noonan syndrome 4 False False False -GARD:10700 Noonan syndrome 5 False False False -GARD:10701 Noonan syndrome 6 False False False -GARD:10704 Pontocerebellar hypoplasia type 1 False False False -GARD:10705 Pontocerebellar hypoplasia type 2 False False False -GARD:10706 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome False False False -GARD:10707 Deafness with labyrinthine aplasia, microtia, and microdontia False False False -GARD:10708 Pontocerebellar hypoplasia type 3 False False False -GARD:1071 Camptomelic syndrome, long-limb type False False False -GARD:10710 Pontocerebellar hypoplasia type 6 False False False -GARD:10711 Genetic peripheral neuropathy False False False -GARD:10713 Pudendal neuralgia False False False -GARD:10714 Legius syndrome False False False -GARD:10716 HSD10 disease False False False -GARD:10719 Noonan syndrome-like disorder with loose anagen hair False False False -GARD:1072 Camurati-Engelmann disease False False False -GARD:10726 Spondylocostal dysostosis 1, autosomal recessive False False False -GARD:10727 Koolen-De Vries syndrome False False False -GARD:10728 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease False False False -GARD:10729 Chronic visceral acid sphingomyelinase deficiency False False False -GARD:10730 Pyridoxal phosphate-responsive seizures False False False -GARD:10731 McLeod neuroacanthocytosis syndrome False False False -GARD:10732 Leukoencephalopathy with calcifications and cysts False False False -GARD:10734 Pleuropulmonary blastoma familial tumor susceptibility syndrome False False False -GARD:10738 Primary hyperoxaluria type 3 False False False -GARD:10739 Neuronal ceroid lipofuscinosis False False False -GARD:10740 Proximal 16p11.2 microdeletion syndrome False False False -GARD:10741 Spondyloepimetaphyseal dysplasia, Handigodu type False False False -GARD:10744 Conjunctival malignant melanoma False False False -GARD:10752 Epidermolysis bullosa simplex False False False -GARD:10753 Pachyonychia congenita False False False -GARD:10754 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion False False False -GARD:10755 16p13.3 microduplication syndrome False False False -GARD:10756 Multiple epiphyseal dysplasia False False False -GARD:10758 Pseudohypoparathyroidism False False False -GARD:10760 Glycogen storage disease due to muscle and heart glycogen synthase deficiency False False False -GARD:10761 2-hydroxyglutaric aciduria False False False -GARD:10762 Hereditary arterial and articular multiple calcification syndrome False False False -GARD:10763 Duane retraction syndrome 1 False False False -GARD:10764 Hypermethioninemia due to glycine N-methyltransferase deficiency False False False -GARD:10766 Congenital factor XIII deficiency False False False -GARD:10767 MOGS-CDG False False False -GARD:10768 Familial or sporadic hemiplegic migraine False False False -GARD:10769 Laing early-onset distal myopathy False False False -GARD:1077 Chronic mucocutaneous candidiasis False False False -GARD:10771 Kallmann syndrome False False False -GARD:10772 Hypogonadotropic hypogonadism 4 with or without anosmia False False False -GARD:10773 Hypogonadotropic hypogonadism 5 with or without anosmia False False False -GARD:10774 Hypogonadotropic hypogonadism 6 with or without anosmia False False False -GARD:10775 Syndromic multisystem autoimmune disease due to Itch deficiency False False False -GARD:10777 Peritoneal cystic mesothelioma False False False -GARD:10778 Recurrent infection due to specific granule deficiency False False False -GARD:10779 CLIPPERS False False False -GARD:1078 Hypogonadism-mitral valve prolapse-intellectual disability syndrome False False False -GARD:10780 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia False False False -GARD:10781 Goldmann-Favre syndrome False False False -GARD:10782 Stickler syndrome False False False -GARD:10783 Bilateral frontal polymicrogyria False False False -GARD:10784 Bilateral frontoparietal polymicrogyria False False False -GARD:10785 Bilateral parasagittal parieto-occipital polymicrogyria False False False -GARD:10786 Bilateral generalized polymicrogyria False False False -GARD:10788 Loeys-Dietz syndrome False False False -GARD:10790 Cone rod dystrophy False False False -GARD:10791 Logopenic progressive aphasia False False False -GARD:10792 Semantic dementia False False False -GARD:10793 Progressive non-fluent aphasia False False False -GARD:10794 Paroxysmal hemicrania False False False -GARD:10795 Hemicrania continua False False False -GARD:10796 Hypnic headache False False False -GARD:108 Adult polyglucosan body disease False False False -GARD:10801 Autosomal dominant tubulointerstitial kidney disease False False False -GARD:10803 Lamellar ichthyosis False False False -GARD:10804 Metaplastic carcinoma of the breast False False False -GARD:10805 MUTYH-related attenuated familial adenomatous polyposis False False False -GARD:10806 Female restricted epilepsy with intellectual disability False False False -GARD:10808 Insulin autoimmune syndrome False False False -GARD:10809 Postorgasmic illness syndrome False False False -GARD:10810 Fatty acid hydroxylase-associated neurodegeneration False False False -GARD:10813 1q21.1 microdeletion syndrome False False False -GARD:10814 Thyrotoxic periodic paralysis False False False -GARD:10816 Lichen planus pigmentosus False False False -GARD:10817 Autosomal dominant spastic paraplegia type 31 False False False -GARD:10818 Combined malonic and methylmalonic acidemia False False False -GARD:10821 Eastern equine encephalitis False False False -GARD:10822 Idiopathic spontaneous coronary artery dissection False False False -GARD:10823 Obesity due to pro-opiomelanocortin deficiency False False False -GARD:10824 Cushing syndrome due to macronodular adrenal hyperplasia False False False -GARD:10828 Familial hypocalciuric hypercalcemia False False False -GARD:10829 Hyperparathyroidism-jaw tumor syndrome False False False -GARD:10830 Nevus of Ito False False False -GARD:10837 Ring chromosome 2 syndrome False False False -GARD:10839 Ring chromosome 3 syndrome False False False -GARD:1084 Systemic capillary leak syndrome False False False -GARD:10841 Ring chromosome 5 syndrome False False False -GARD:10846 Ring chromosome 11 syndrome False False False -GARD:10855 Ring chromosome 16 syndrome False False False -GARD:10860 Monosomy 21 False False False -GARD:10865 Monosomy 18q False False False -GARD:10867 Familial multiple trichoepithelioma False False False -GARD:10870 Free sialic acid storage disease False False False -GARD:10871 Intermediate severe Salla disease False False False -GARD:10872 Malignant peripheral nerve sheath tumor False False False -GARD:10875 Heterotaxia False False False -GARD:10876 Congenital radioulnar synostosis False False False -GARD:10877 Familial tumoral calcinosis False False False -GARD:10878 Familial normophosphatemic tumoral calcinosis False False False -GARD:10879 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome False False False -GARD:10880 Leber congenital amaurosis 7 False False False -GARD:10881 Leber congenital amaurosis 8 False False False -GARD:10882 Leber congenital amaurosis 13 False False False -GARD:10883 Leber congenital amaurosis 14 False False False -GARD:10884 Leber congenital amaurosis 15 False False False -GARD:10885 Leber congenital amaurosis 16 False False False -GARD:10886 Frontal fibrosing alopecia False False False -GARD:10887 Osteofibrous dysplasia False False False -GARD:10889 HANAC syndrome False False False -GARD:10890 Non-involuting congenital hemangioma False False False -GARD:10891 GM1 gangliosidosis False False False -GARD:10892 Blepharophimosis-intellectual disability syndrome False False False -GARD:10898 Primary acquired pure red cell aplasia False False False -GARD:10899 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia False False False -GARD:109 Progressive osseous heteroplasia False False False -GARD:10900 Hereditary diffuse gastric cancer False False False -GARD:10902 Neuroacanthocytosis False False False -GARD:10903 Brachyolmia False False False -GARD:10905 Dyskeratosis congenita False False False -GARD:10906 Primary pigmented nodular adrenocortical disease False False False -GARD:10907 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia False False False -GARD:10909 Adult-onset foveomacular vitelliform dystrophy False False False -GARD:10910 Medial condensing osteitis of the clavicle False False False -GARD:10911 Autoimmune pancreatitis False False False -GARD:10913 Griscelli syndrome False False False -GARD:10914 Familial avascular necrosis of femoral head False False False -GARD:10915 X-linked lymphoproliferative disease False False False -GARD:10916 X-linked lymphoproliferative disease due to XIAP deficiency False False False -GARD:10917 Hypomyelination with atrophy of basal ganglia and cerebellum False False False -GARD:10919 Pontine tegmental cap dysplasia False False False -GARD:10921 Intraneural perineurioma False False False -GARD:10922 49,XXXYY syndrome False False False -GARD:10923 Erythrokeratoderma variabilis progressiva False False False -GARD:10924 Carney triad False False False -GARD:10925 La Crosse encephalitis False False False -GARD:10927 Cryopyrin-associated periodic syndrome False False False -GARD:10929 Nodular regenerative hyperplasia of the liver False False False -GARD:1093 Progressive familial heart block, type ia False False False -GARD:10933 Microcephaly, seizures, and developmental delay False False False -GARD:10934 Monocytopenia with susceptibility to infections False False False -GARD:10935 16q24.3 microdeletion syndrome False False False -GARD:10936 17q23.1q23.2 microdeletion syndrome False False False -GARD:10937 Lipodystrophy, congenital generalized, type 4 False False False -GARD:10938 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome False False False -GARD:10939 CLOVES syndrome False False False -GARD:1094 Cardiac diverticulum False False False -GARD:10940 Superior limbic keratoconjunctivitis False False False -GARD:10941 Anterior uveitis False False False -GARD:10942 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea False False False -GARD:10943 1q44 microdeletion syndrome False False False -GARD:10944 COG6-CGD False False False -GARD:10945 Short stature-optic atrophy-Pelger-Huët anomaly syndrome False False False -GARD:10946 Corticosteroid-sensitive aseptic abscess syndrome False False False -GARD:10947 UV-sensitive syndrome False False False -GARD:10948 Erythropoietic uroporphyria associated with myeloid malignancy False False False -GARD:10949 Non-24-hour sleep-wake syndrome False False False -GARD:10951 Necrobiotic xanthogranuloma False False False -GARD:10954 3-methylcrotonyl-CoA carboxylase deficiency False False False -GARD:10955 Noonan syndrome False False False -GARD:10956 Hyper-IgE syndrome False False False -GARD:10957 IRIDA syndrome False False False -GARD:10958 Oculocutaneous albinism False False False -GARD:10959 Familial isolated pituitary adenoma False False False -GARD:1096 FLNA-related X-linked myxomatous valvular dysplasia False False False -GARD:10962 TEMPI syndrome False False False -GARD:10964 Chronic graft versus host disease False False False -GARD:10965 FGFR2-related bent bone dysplasia False False False -GARD:10966 Systemic-onset juvenile idiopathic arthritis False False False -GARD:10969 Enthesitis-related juvenile idiopathic arthritis False False False -GARD:10970 Psoriasis-related juvenile idiopathic arthritis False False False -GARD:10972 Distal monosomy 17q False False False -GARD:10973 Adult neuronal ceroid lipofuscinosis False False False -GARD:10974 Migraine, familial hemiplegic, 3 False False False -GARD:10977 Non-syndromic pontocerebellar hypoplasia False False False -GARD:10980 Autoimmune polyendocrinopathy type 3 False False False -GARD:10981 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia False False False -GARD:10983 Disseminated superficial actinic porokeratosis False False False -GARD:10984 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency False False False -GARD:10985 Left ventricular noncompaction False False False -GARD:10986 Granulomatous slack skin False False False -GARD:10989 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome False False False -GARD:10991 19p13.12 microdeletion syndrome False False False -GARD:10992 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome False False False -GARD:10994 Genitopatellar syndrome False False False -GARD:10995 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly False False False -GARD:10996 Distal 17p13.1 microdeletion syndrome False False False -GARD:10997 Aneurysm-osteoarthritis syndrome False False False -GARD:10998 2q23.1 microdeletion syndrome False False False -GARD:10999 Severe intellectual disability and progressive spastic paraplegia False False False -GARD:11 Alternating hemiplegia of childhood False False False -GARD:1100 Noonan syndrome with multiple lentigines False False False -GARD:11000 Constitutional megaloblastic anemia with severe neurologic disease False False False -GARD:11003 Karyomegalic interstitial nephritis False False False -GARD:11004 Linear and whorled nevoid hypermelanosis False False False -GARD:11005 Febrile infection-related epilepsy syndrome False False False -GARD:11006 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome False False False -GARD:11007 Onychocytic matricoma False False False -GARD:11008 Nestor-Guillermo progeria syndrome False False False -GARD:11009 Chondrodysplasia with joint dislocations, gPAPP type False False False -GARD:11010 Hereditary sensorimotor neuropathy with hyperelastic skin False False False -GARD:11011 Multifocal motor neuropathy False False False -GARD:1102 Cardiomyopathy-cataract-hip spine disease syndrome False False False -GARD:1104 Cardiomyopathy, dilated, 1a False False False -GARD:111 Recurrent respiratory papillomatosis False False False -GARD:1118 3MC syndrome False False False -GARD:1119 Carney complex False False False -GARD:112 Infant acute respiratory distress syndrome False False False -GARD:1120 Carnitine palmitoyl transferase 1A deficiency False False False -GARD:1121 Carnitine palmitoyltransferase II deficiency False False False -GARD:1123 Carnitine-acylcarnitine translocase deficiency False False False -GARD:1128 Carpotarsal osteochondromatosis False False False -GARD:1130 Idiopathic chronic eosinophilic pneumonia False False False -GARD:1133 X-linked intellectual disability, Stocco Dos Santos type False False False -GARD:1139 Autosomal recessive palmoplantar keratoderma and congenital alopecia False False False -GARD:114 X-linked Charcot-Marie-Tooth disease type 5 False False False -GARD:1140 Early-onset anterior polar cataract False False False -GARD:1141 Cataract-ataxia-deafness syndrome False False False -GARD:1142 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome False False False -GARD:1144 Cataract 4, multiple types False False False -GARD:1155 Cataract-microcornea syndrome False False False -GARD:1159 Total early-onset cataract False False False -GARD:116 Alpha-N-acetylgalactosaminidase deficiency type 1 False False False -GARD:1160 Cataract-glaucoma syndrome False False False -GARD:1163 Caudal appendage-deafness syndrome False False False -GARD:1164 Caudal duplication False False False -GARD:1167 Acrocardiofacial syndrome False False False -GARD:117 Schinzel-Giedion syndrome False False False -GARD:118 Ulnar-mammary syndrome False False False -GARD:11855 Ameloblastic carcinoma False False False -GARD:1188 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome False False False -GARD:1189 Cerebellar ataxia-ectodermal dysplasia syndrome False False False -GARD:11890 Peroxisome biogenesis disorder False False False -GARD:11892 Spinal arteriovenous metameric syndrome False False False -GARD:11893 Mandibuloacral dysplasia False False False -GARD:11894 Pulmonary alveolar microlithiasis False False False -GARD:11895 Pellucid marginal degeneration False False False -GARD:11897 Progressive cone dystrophy False False False -GARD:11898 Linear lichen planus False False False -GARD:11899 Neurodegeneration with brain iron accumulation False False False -GARD:11901 Juvenile amyotrophic lateral sclerosis False False False -GARD:11902 Congenital myasthenic syndrome False False False -GARD:11903 Immunodeficiency due to selective anti-polysaccharide antibody deficiency False False False -GARD:11904 Capillary malformation-arteriovenous malformation False False False -GARD:11906 Cylindrical spirals myopathy False False False -GARD:11907 Acute panmyelosis with myelofibrosis False False False -GARD:11908 Dirofilariasis False False False -GARD:1191 Autosomal recessive progressive external ophthalmoplegia False False False -GARD:11910 Atypical Werner syndrome False False False -GARD:11911 Deafness-infertility syndrome False False False -GARD:11914 Heritable pulmonary arterial hypertension False False False -GARD:11915 Cap myopathy False False False -GARD:11918 Autosomal dominant nocturnal frontal lobe epilepsy False False False -GARD:11923 Small cell carcinoma of the bladder False False False -GARD:11925 X-linked centronuclear myopathy False False False -GARD:11927 Hereditary sensory neuropathy-deafness-dementia syndrome False False False -GARD:1195 Endosteal sclerosis-cerebellar hypoplasia syndrome False False False -GARD:11951 Rhabdomyosarcoma False False False -GARD:11953 Non-Hodgkin lymphoma False False False -GARD:1196 Cerebellar hypoplasia-tapetoretinal degeneration syndrome False False False -GARD:11962 Familial partial lipodystrophy False False False -GARD:11971 Renal nutcracker syndrome False False False -GARD:11972 Autosomal dominant optic atrophy False False False -GARD:11973 Angioimmunoblastic T-cell lymphoma False False False -GARD:11974 3q29 microdeletion syndrome False False False -GARD:11979 Autoimmune encephalitis False False False -GARD:11980 Hypomyelination-congenital cataract syndrome False False False -GARD:11982 Primary membranoproliferative glomerulonephritis False False False -GARD:11983 Activated PI3K-delta syndrome False False False -GARD:11984 Hereditary pheochromocytoma-paraganglioma False False False -GARD:11985 48,XYYY syndrome False False False -GARD:1199 Autosomal recessive cerebelloparenchymal disorder type 3 False False False -GARD:11992 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies False False False -GARD:12 Hypersensitivity pneumonitis False False False -GARD:1200 Hydrocephaly-cerebellar agenesis syndrome False False False -GARD:12008 Congenital tracheal stenosis False False False -GARD:12010 Isolated biliary atresia False False False -GARD:12011 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E False False False -GARD:12015 Lipoblastoma False False False -GARD:12016 Primary melanoma of the central nervous system False False False -GARD:12027 Differentiated thyroid carcinoma False False False -GARD:12032 Levocardia False False False -GARD:12033 Nemaline myopathy False False False -GARD:12036 Facial onset sensory and motor neuronopathy False False False -GARD:12048 Immunotactoid glomerulopathy False False False -GARD:12059 GM3 synthase deficiency False False False -GARD:12062 Visual snow syndrome False False False -GARD:12074 Oculo-auriculo-vertebral spectrum False False False -GARD:12076 7q11.23 microduplication syndrome False False False -GARD:12085 Isolated microphthalmia-anophthalmia-coloboma False False False -GARD:12097 Lysosomal acid lipase deficiency False False False -GARD:12099 Cholesteryl ester storage disease False False False -GARD:121 Focal facial dermal dysplasia type III False False False -GARD:1210 Cerebrofaciothoracic dysplasia False False False -GARD:12107 Autosomal dominant non-syndromic intellectual disability False False False -GARD:12109 Trichothiodystrophy False False False -GARD:12117 Autosomal recessive primary microcephaly False False False -GARD:12123 Congenital absence of upper arm and forearm with hand present False False False -GARD:12124 Macrophage activation syndrome False False False -GARD:12125 Plasmablastic lymphoma False False False -GARD:12128 Methylmalonic acidemia with homocystinuria, type cblC False False False -GARD:12144 Dopa-responsive dystonia False False False -GARD:12162 Reducing body myopathy False False False -GARD:12163 Brain-lung-thyroid syndrome False False False -GARD:12166 5q14.3 microdeletion syndrome False False False -GARD:1217 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations False False False -GARD:12173 CDKL5-deficiency disorder False False False -GARD:1218 CLN10 disease False False False -GARD:12185 Benign recurrent intrahepatic cholestasis False False False -GARD:1219 CLN1 disease False False False -GARD:12199 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome False False False -GARD:122 Singleton-Merten dysplasia False False False -GARD:1220 CLN7 disease False False False -GARD:12219 15q24 microdeletion syndrome False False False -GARD:1222 CLN4B disease False False False -GARD:1223 CLN5 disease False False False -GARD:12232 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia False False False -GARD:12234 Autosomal recessive ataxia, Beauce type False False False -GARD:1224 CLN6 disease False False False -GARD:12241 Familial lipoprotein lipase deficiency False False False -GARD:12244 New-onset refractory status epilepticus False False False -GARD:12251 Isolated ectopia lentis False False False -GARD:12257 T-cell/histiocyte rich large B cell lymphoma False False False -GARD:1226 Cervical hypertrichosis-peripheral neuropathy syndrome False False False -GARD:12264 COL4A1-related familial vascular leukoencephalopathy False False False -GARD:12267 Congenital insensitivity to pain-anosmia-neuropathic arthropathy False False False -GARD:12280 Central congenital hypothyroidism False False False -GARD:12281 Chronic atrial and intestinal dysrhythmia syndrome False False False -GARD:12291 Lissencephaly False False False -GARD:12299 Bradyopsia False False False -GARD:12300 Pelizaeus-Merzbacher-like disease False False False -GARD:12301 Thomsen and Becker disease False False False -GARD:12308 Celiac artery compression syndrome False False False -GARD:12311 Congenital lactase deficiency False False False -GARD:12312 IMAGe syndrome False False False -GARD:12314 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome False False False -GARD:12315 Alacrimia-choreoathetosis-liver dysfunction syndrome False False False -GARD:12316 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency False False False -GARD:12328 Hereditary sensory and autonomic neuropathy type 5 False False False -GARD:1233 CHAND syndrome False False False -GARD:12331 Intestinal lymphangiectasia False False False -GARD:12335 Carcinosarcoma of the corpus uteri False False False -GARD:12338 Transcobalamin deficiency False False False -GARD:1234 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome False False False -GARD:12344 Rare lichen planus False False False -GARD:12347 Dihydropyrimidinuria False False False -GARD:12348 COG5-CDG False False False -GARD:1235 Multifocal atrial tachycardia False False False -GARD:12351 Breast-ovarian cancer, familial, susceptibility to, 1 False False False -GARD:12352 Breast-ovarian cancer, familial, susceptibility to, 2 False False False -GARD:12353 Autosomal recessive axonal neuropathy with neuromyotonia False False False -GARD:12354 Distal renal tubular acidosis with anemia False False False -GARD:12356 Loeys-dietz syndrome 5 False False False -GARD:12357 STING-associated vasculopathy with onset in infancy False False False -GARD:12360 Microcytic anemia with liver iron overload False False False -GARD:12362 Familial hyperaldosteronism type III False False False -GARD:12365 Spinocerebellar ataxia type 19/22 False False False -GARD:12366 Spinocerebellar ataxia type 35 False False False -GARD:12367 Spinocerebellar ataxia type 36 False False False -GARD:12368 Spinocerebellar ataxia type 37 False False False -GARD:12369 Spinocerebellar ataxia type 38 False False False -GARD:1237 Char syndrome False False False -GARD:12371 Spinocerebellar ataxia type 40 False False False -GARD:12372 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome False False False -GARD:12375 Idiopathic CD4 lymphocytopenia False False False -GARD:12382 Sudden infant death-dysgenesis of the testes syndrome False False False -GARD:12383 Vasculitis due to ADA2 deficiency False False False -GARD:12384 Hypopigmentation-punctate palmoplantar keratoderma syndrome False False False -GARD:12385 Male infertility due to large-headed multiflagellar polyploid spermatozoa False False False -GARD:12388 Proximal 16p11.2 microduplication syndrome False False False -GARD:12390 Schnitzler syndrome False False False -GARD:12391 Developmental and epileptic encephalopathy 26 False False False -GARD:12393 DK1-CDG False False False -GARD:12394 RFT1-CDG False False False -GARD:12395 DPM3-CDG False False False -GARD:12396 ALG11-CDG False False False -GARD:12397 SRD5A3-CDG False False False -GARD:12398 DDOST-CDG False False False -GARD:1240 X-linked Charcot-Marie-Tooth disease type 4 False False False -GARD:12401 ALG13-CDG False False False -GARD:12403 SLC35A2-CDG False False False -GARD:12404 Alacrima, achalasia, and mental retardation syndrome False False False -GARD:12405 SSR4-CDG False False False -GARD:12409 SLC35A1-CDG False False False -GARD:12411 COG8-CDG False False False -GARD:12412 COG4-CDG False False False -GARD:12413 TMEM165-CDG False False False -GARD:12416 Congenital muscular dystrophy with intellectual disability and severe epilepsy False False False -GARD:12417 MAN1B1-CDG False False False -GARD:12421 Partial duplication of the short arm of chromosome X False False False -GARD:12426 Congenital intrauterine infection-like syndrome False False False -GARD:12428 Cutaneous collagenous vasculopathy False False False -GARD:12429 Autosomal dominant Charcot-Marie-Tooth disease type 2N False False False -GARD:1243 X-linked Charcot-Marie-Tooth disease type 2 False False False -GARD:12431 Autosomal dominant Charcot-Marie-Tooth disease type 2 False False False -GARD:12432 Autosomal dominant Charcot-Marie-Tooth disease type 2L False False False -GARD:12433 Charcot-Marie-Tooth disease type 1 False False False -GARD:12434 Autosomal dominant Charcot-Marie-Tooth disease type 2O False False False -GARD:12435 Charcot-Marie-Tooth disease type 2P False False False -GARD:12436 Autosomal dominant intermediate Charcot-Marie-Tooth disease False False False -GARD:12437 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A False False False -GARD:12438 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B False False False -GARD:12439 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C False False False -GARD:1244 X-linked Charcot-Marie-Tooth disease type 3 False False False -GARD:12440 Charcot-Marie-Tooth disease type 4 False False False -GARD:12441 Charcot-Marie-Tooth disease type 4F False False False -GARD:12442 Charcot-Marie-Tooth disease type 4H False False False -GARD:12443 Charcot-Marie-Tooth disease type 4J False False False -GARD:12444 X-linked Charcot-Marie-Tooth disease False False False -GARD:12445 X-linked Charcot-Marie-Tooth disease type 6 False False False -GARD:12446 Autosomal dominant Charcot-Marie-Tooth disease type 2Q False False False -GARD:12447 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons False False False -GARD:12448 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness False False False -GARD:12449 Autosomal recessive axonal hereditary motor and sensory neuropathy False False False -GARD:1245 Charcot-Marie-Tooth disease type 1A False False False -GARD:12451 Charcot-Marie-Tooth disease type 2R False False False -GARD:12452 Autosomal recessive intermediate Charcot-Marie-Tooth disease False False False -GARD:12453 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A False False False -GARD:12454 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B False False False -GARD:12458 Sickle cell-hemoglobin D disease syndrome False False False -GARD:12459 Sickle cell disease associated with another hemoglobin anomaly False False False -GARD:1246 Charcot-Marie-Tooth disease type 1B False False False -GARD:12469 Glutaric acidemia type 3 False False False -GARD:1247 Charcot-Marie-Tooth disease type 1C False False False -GARD:12470 Peroxisomal beta-oxidation disorder False False False -GARD:12471 Leukoencephalopathy-dystonia-motor neuropathy syndrome False False False -GARD:12472 CADDS False False False -GARD:12474 Periodontal Ehlers-Danlos syndrome False False False -GARD:12476 Disorder of peroxisomal alpha-, beta- and omega-oxidation False False False -GARD:12478 Bleeding disorder due to P2Y12 defect False False False -GARD:1248 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 False False False -GARD:12480 Tetrasomy 21 False False False -GARD:12483 Cor triatriatum dexter False False False -GARD:12484 Cor triatriatum sinister False False False -GARD:12486 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome False False False -GARD:12487 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome False False False -GARD:1249 Charcot-Marie-Tooth disease type 2B2 False False False -GARD:12491 X-linked lissencephaly with abnormal genitalia False False False -GARD:12492 20p12.3 microdeletion syndrome False False False -GARD:12494 Aromatase excess syndrome False False False -GARD:125 Acrokeratoelastoidosis of Costa False False False -GARD:1250 Autosomal dominant Charcot-Marie-Tooth disease type 2C False False False -GARD:12501 Intellectual disability-severe speech delay-mild dysmorphism syndrome False False False -GARD:12502 Male infertility due to globozoospermia False False False -GARD:12503 Atypical Gaucher disease due to saposin C deficiency False False False -GARD:12504 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome False False False -GARD:12505 Encephalopathy due to prosaposin deficiency False False False -GARD:1251 Autosomal dominant Charcot-Marie-Tooth disease type 2D False False False -GARD:12510 Gangliosidosis False False False -GARD:12511 Lipid storage disease False False False -GARD:12513 Male infertility with spermatogenesis disorder due to single gene mutation False False False -GARD:1252 Charcot-Marie-Tooth disease type 4A False False False -GARD:12521 IgG4-related disease False False False -GARD:12524 L1 syndrome False False False -GARD:12525 X-linked complicated spastic paraplegia type 1 False False False -GARD:12526 X-linked complicated corpus callosum dysgenesis False False False -GARD:12528 DNAJB6-related limb-girdle muscular dystrophy D1 False False False -GARD:1253 Charcot-Marie-Tooth disease type 4B1 False False False -GARD:12530 TNP03-related limb-girdle muscular dystrophy D2 False False False -GARD:12531 HNRNPDL-related limb-girdle muscular dystrophy D3 False False False -GARD:12532 Autosomal dominant limb-girdle muscular dystrophy type 1H False False False -GARD:12533 FKRP-related limb-girdle muscular dystrophy R9 False False False -GARD:12534 Titin-related limb-girdle muscular dystrophy R10 False False False -GARD:12535 POMT1-related limb-girdle muscular dystrophy R11 False False False -GARD:12536 Anoctamin-5-related limb-girdle muscular dystrophy R12 False False False -GARD:12538 Fukutin-related limb-girdle muscular dystrophy R13 False False False -GARD:12539 POMT2-related limb-girdle muscular dystrophy R14 False False False -GARD:12540 POMGNT1-related limb-girdle muscular dystrophy R15 False False False -GARD:12541 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 False False False -GARD:12542 Plectin-related limb-girdle muscular dystrophy R17 False False False -GARD:12543 TRAPPC11-related limb-girdle muscular dystrophy R18 False False False -GARD:12544 GMPPB-related limb-girdle muscular dystrophy R19 False False False -GARD:12547 Selective IgM deficiency False False False -GARD:12550 Isolated congenital adermatoglyphia False False False -GARD:12551 Familial congenital mirror movements False False False -GARD:12556 Non-acquired isolated growth hormone deficiency False False False -GARD:12558 Intellectual developmental disorder, autosomal dominant 5 False False False -GARD:12559 Hurler syndrome False False False -GARD:12560 Hurler-Scheie syndrome False False False -GARD:12561 Scheie syndrome False False False -GARD:12562 Mucopolysaccharidosis type 4 False False False -GARD:12567 PLA2G6-associated neurodegeneration False False False -GARD:12568 Adult-onset dystonia-parkinsonism False False False -GARD:12569 Mitochondrial membrane protein-associated neurodegeneration False False False -GARD:12570 Beta-propeller protein-associated neurodegeneration False False False -GARD:12571 COASY protein-associated neurodegeneration False False False -GARD:1258 X-linked Charcot-Marie-Tooth disease type 1 False False False -GARD:12584 Congenital muscular dystrophy due to dystroglycanopathy False False False -GARD:12585 Congenital muscular dystrophy due to LMNA mutation False False False -GARD:12586 Congenital muscular dystrophy type 1B False False False -GARD:12587 Congenital muscular dystrophy with integrin alpha-7 deficiency False False False -GARD:12588 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies False False False -GARD:12590 Congenital fibrosis of extraocular muscles False False False -GARD:12591 Hereditary myopathy with early respiratory failure False False False -GARD:12592 Oculopharyngodistal myopathy False False False -GARD:12596 Primary lipodystrophy False False False -GARD:12597 Genetic lipodystrophy False False False -GARD:12598 Familial partial lipodystrophy, Köbberling type False False False -GARD:12599 AKT2-related familial partial lipodystrophy False False False -GARD:12600 PPARG-related familial partial lipodystrophy False False False -GARD:12601 PLIN1-related familial partial lipodystrophy False False False -GARD:12602 Acquired lipodystrophy False False False -GARD:12603 Acquired generalized lipodystrophy False False False -GARD:12604 Lipodystrophy due to peptidic growth factors deficiency False False False -GARD:1261 Charlie M syndrome False False False -GARD:12610 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome False False False -GARD:12613 Cardiac-valvular Ehlers-Danlos syndrome False False False -GARD:12621 Methylmalonic acidemia with homocystinuria, type cblJ False False False -GARD:12623 Vitamin B12-responsive methylmalonic acidemia False False False -GARD:12631 Stapes ankylosis with broad thumbs and toes False False False -GARD:12632 Multiple mitochondrial dysfunctions syndrome False False False -GARD:12635 Laurence-Moon syndrome False False False -GARD:12638 Bacterial susceptibility due to TLR signaling pathway deficiency False False False -GARD:12640 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome False False False -GARD:12641 Frontonasal dysplasia-alopecia-genital anomalies syndrome False False False -GARD:12642 Frontorhiny False False False -GARD:12643 Lethal congenital contracture syndrome False False False -GARD:12644 Lethal congenital contracture syndrome type 3 False False False -GARD:12645 Lethal congenital contracture syndrome 4 False False False -GARD:12648 Isolated congenital megalocornea False False False -GARD:12650 Amoebiasis due to free-living amoebae False False False -GARD:12652 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome False False False -GARD:12653 DOCK2 deficiency False False False -GARD:12656 Castleman disease False False False -GARD:12662 Cerebrofacial arteriovenous metameric syndrome False False False -GARD:12663 Facial arteriovenous malformation False False False -GARD:12664 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency False False False -GARD:12665 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency False False False -GARD:12669 X-linked intellectual disability, Najm type False False False -GARD:12673 Actinic lichen planus False False False -GARD:12674 Annular lichen planus False False False -GARD:12675 Atrophic lichen planus False False False -GARD:12676 Annular atrophic lichen planus False False False -GARD:12677 Lichen planus pemphigoides False False False -GARD:12678 Lipoic acid synthetase deficiency False False False -GARD:12679 Lipoic acid biosynthesis defect False False False -GARD:12680 Lipoyl transferase 1 deficiency False False False -GARD:12681 Childhood-onset spasticity with hyperglycinemia False False False -GARD:12682 Horizontal gaze palsy with progressive scoliosis False False False -GARD:12683 Distal hereditary motor neuropathy False False False -GARD:12684 Familial episodic pain syndrome False False False -GARD:12686 Diffuse cutaneous mastocytosis False False False -GARD:12687 Cutaneous mastocytoma False False False -GARD:12688 Hereditary sensory and autonomic neuropathy False False False -GARD:12697 Tumor of cranial and spinal nerves False False False -GARD:12698 Perineurioma False False False -GARD:127 Summitt syndrome False False False -GARD:12703 Osteochondritis dissecans False False False -GARD:12704 Osteochondrosis False False False -GARD:12706 Painful legs and moving toes syndrome False False False -GARD:12713 Congenital laryngeal palsy False False False -GARD:12715 X-linked intellectual disability-hypotonia-movement disorder syndrome False False False -GARD:12716 Elastoderma False False False -GARD:12718 Autosomal recessive centronuclear myopathy False False False -GARD:12719 Autosomal dominant centronuclear myopathy False False False -GARD:12720 Fingerprint body myopathy False False False -GARD:12722 Familial dyskinesia and facial myokymia False False False -GARD:12724 Periventricular nodular heterotopia False False False -GARD:12731 X-linked hereditary sensory and autonomic neuropathy with deafness False False False -GARD:12732 Hereditary sensory and autonomic neuropathy type 7 False False False -GARD:12733 Rare hereditary disease with peripheral neuropathy False False False -GARD:12736 Glomerular disease False False False -GARD:1274 Pierre Robin syndrome-faciodigital anomaly syndrome False False False -GARD:12740 Non-amyloid fibrillary glomerulopathy False False False -GARD:12741 Immunotactoid or fibrillary glomerulopathy False False False -GARD:12742 Juvenile polymyositis False False False -GARD:12744 Chronic intestinal pseudoobstruction False False False -GARD:12749 Autosomal recessive spastic paraplegia type 32 False False False -GARD:12757 Acute myeloid leukemia False False False -GARD:12758 Acute myeloid leukemia with recurrent genetic anomaly False False False -GARD:12759 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) False False False -GARD:12760 Unclassified acute myeloid leukemia False False False -GARD:12761 Acute myeloid leukaemia with myelodysplasia-related features False False False -GARD:12762 Therapy related acute myeloid leukemia and myelodysplastic syndrome False False False -GARD:12763 Myeloid sarcoma False False False -GARD:12765 Transient myeloproliferative syndrome False False False -GARD:12766 Microduplication Xp11.22p11.23 syndrome False False False -GARD:12768 Reversible cerebral vasoconstriction syndrome False False False -GARD:12772 Rare malignant breast tumor False False False -GARD:12773 Rare adenocarcinoma of the breast False False False -GARD:12774 Salivary gland type cancer of the breast False False False -GARD:12775 Rare benign breast tumor False False False -GARD:12777 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 False False False -GARD:12779 Familial retinal arterial macroaneurysm False False False -GARD:12781 Multiple congenital anomalies-hypotonia-seizures syndrome False False False -GARD:12782 Congenital disorder of glycosylation with developmental anomaly False False False -GARD:12784 Livedoid vasculopathy False False False -GARD:12794 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form False False False -GARD:12796 Dentinogenesis imperfecta type 2 False False False -GARD:12798 Early-onset autosomal dominant Alzheimer disease False False False -GARD:12799 Alzheimer disease 2 False False False -GARD:1280 Primary sclerosing cholangitis False False False -GARD:12800 PTEN hamartoma tumor syndrome False False False -GARD:12801 Proteus-like syndrome False False False -GARD:12806 Autosomal dominant spondylocostal dysostosis False False False -GARD:12807 Spondylocostal dysostosis 6, autosomal recessive False False False -GARD:12811 Multisystemic smooth muscle dysfunction syndrome False False False -GARD:12814 8q24.3 microdeletion syndrome False False False -GARD:12815 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome False False False -GARD:12816 8q12 microduplication syndrome False False False -GARD:12819 Generalized pustular psoriasis False False False -GARD:12820 Pustulosis palmaris et plantaris False False False -GARD:12821 Severe congenital nemaline myopathy False False False -GARD:12822 Typical nemaline myopathy False False False -GARD:12823 Intermediate nemaline myopathy False False False -GARD:12824 Adult-onset nemaline myopathy False False False -GARD:12825 FOXG1 syndrome False False False -GARD:12827 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome False False False -GARD:12829 Pulmonary non-tuberculous mycobacterial infection False False False -GARD:12832 Cardiomyopathy, dilated, 1s False False False -GARD:12835 Acute interstitial pneumonia False False False -GARD:12843 Disseminated peritoneal leiomyomatosis False False False -GARD:12844 High myopia-sensorineural deafness syndrome False False False -GARD:12845 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome False False False -GARD:12851 Intellectual developmental disorder, autosomal dominant 6, with or without seizures False False False -GARD:12854 Paroxysmal extreme pain disorder False False False -GARD:12860 Spinocerebellar ataxia with axonal neuropathy type 2 False False False -GARD:12861 RFVT3-related riboflavin transporter deficiency False False False -GARD:12862 Generalized peeling skin syndrome False False False -GARD:12863 Acral peeling skin syndrome False False False -GARD:12864 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency False False False -GARD:12867 Cushing disease False False False -GARD:12868 IRVAN syndrome False False False -GARD:12874 Osteogenesis imperfecta, type x False False False -GARD:12875 Osteogenesis imperfecta, type xi False False False -GARD:1288 Progressive familial intrahepatic cholestasis type 2 False False False -GARD:12889 Isolated childhood apraxia of speech False False False -GARD:1289 Progressive familial intrahepatic cholestasis type 3 False False False -GARD:12892 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency False False False -GARD:12893 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome False False False -GARD:12894 Zika virus disease False False False -GARD:12900 Developmental and epileptic encephalopathy 4 False False False -GARD:12901 Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta False False False -GARD:12903 Optic atrophy-intellectual disability syndrome False False False -GARD:12913 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome False False False -GARD:12915 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency False False False -GARD:12916 Rh deficiency syndrome False False False -GARD:12919 Malignant migrating focal seizures of infancy False False False -GARD:1292 Familial calcium pyrophosphate deposition False False False -GARD:12921 Late-onset junctional epidermolysis bullosa False False False -GARD:12922 Intermediate generalized junctional epidermolysis bullosa False False False -GARD:12923 Localized junctional epidermolysis bullosa False False False -GARD:12924 Preeclampsia False False False -GARD:12925 Familial multiple lipomatosis False False False -GARD:12927 Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma False False False -GARD:12928 Astrocytoma False False False -GARD:12931 ADNP syndrome False False False -GARD:12943 X-linked hypophosphatemia False False False -GARD:12949 Developmental and epileptic encephalopathy 5 False False False -GARD:12958 C1q deficiency False False False -GARD:12959 Primary orthostatic hypotension False False False -GARD:1296 Brachytelephalangic chondrodysplasia punctata False False False -GARD:12963 MEGDEL syndrome False False False -GARD:12964 Dilated cardiomyopathy with ataxia False False False -GARD:12966 3-methylglutaconic aciduria False False False -GARD:12976 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency False False False -GARD:12977 Mendelian susceptibility to mycobacterial diseases False False False -GARD:12978 Proximal myopathy with extrapyramidal signs False False False -GARD:12980 Monoclonal mast cell activation syndrome False False False -GARD:12983 Hereditary folate malabsorption False False False -GARD:12986 Acyl-CoA dehydrogenase 9 deficiency False False False -GARD:12987 Hereditary sensory and autonomic neuropathy type 6 False False False -GARD:12991 Aquagenic palmoplantar keratoderma False False False -GARD:13 Aniridia-cerebellar ataxia-intellectual disability syndrome False False False -GARD:1300 Acromesomelic dysplasia, Grebe type False False False -GARD:13003 Lupus erythematosus tumidus False False False -GARD:13004 Hepatic veno-occlusive disease False False False -GARD:13007 Hemoglobin M disease False False False -GARD:1301 Ellis Van Creveld syndrome False False False -GARD:13011 Anti-neutrophil cytoplasmic antibody-associated vasculitis False False False -GARD:13015 Obesity due to congenital leptin deficiency False False False -GARD:13016 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome False False False -GARD:13019 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency False False False -GARD:13020 Microcystic lymphatic malformation False False False -GARD:13025 Woolly hair nevus False False False -GARD:1303 Chordoma False False False -GARD:13030 Deafness-lymphedema-leukemia syndrome False False False -GARD:13032 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation False False False -GARD:13034 Neuroendocrine tumor of pancreas False False False -GARD:13040 Necrobiosis lipoidica False False False -GARD:13041 Thrombophilia due to protein c deficiency, autosomal recessive False False False -GARD:13043 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome False False False -GARD:13046 Giant cell tumor of bone False False False -GARD:13047 Germ cell tumor of testis False False False -GARD:1305 Benign hereditary chorea False False False -GARD:13056 Congenital analbuminemia False False False -GARD:13058 Autosomal dominant multiple pterygium syndrome False False False -GARD:13059 Distal arthrogryposis type 5D False False False -GARD:13060 KCNQ2-related epileptic encephalopathy False False False -GARD:13063 Bockenheimer syndrome False False False -GARD:13070 Lewis-Sumner syndrome False False False -GARD:13072 Primary hypomagnesemia with secondary hypocalcemia False False False -GARD:13073 Nevus comedonicus syndrome False False False -GARD:13075 Diffuse intrinsic pontine glioma False False False -GARD:13085 Developmental and epileptic encephalopathy 13 False False False -GARD:13101 Corticosteroid-binding globulin deficiency False False False -GARD:13105 Dent disease False False False -GARD:13108 MIRAGE syndrome False False False -GARD:13110 Progressive encephalomyelitis with rigidity and myoclonus False False False -GARD:13111 Ataxia-oculomotor apraxia type 4 False False False -GARD:13112 Ataxia-oculomotor apraxia 3 False False False -GARD:13113 Infantile liver failure syndrome 2 False False False -GARD:13114 Acute infantile liver failure-multisystemic involvement syndrome False False False -GARD:13124 Chronic thromboembolic pulmonary hypertension False False False -GARD:13125 CIDEC-related familial partial lipodystrophy False False False -GARD:13126 LIPE-related familial partial lipodystrophy False False False -GARD:1313 Infantile choroidocerebral calcification syndrome False False False -GARD:13136 Intellectual developmental disorder, autosomal dominant 30 False False False -GARD:13137 Methylmalonic acidemia with homocystinuria, type cblX False False False -GARD:13142 Acute flaccid myelitis False False False -GARD:13154 Tibial muscular dystrophy False False False -GARD:13155 Early-onset lamellar cataract False False False -GARD:13156 Oligodendroglial tumor False False False -GARD:13157 Hereditary papillary renal cell carcinoma False False False -GARD:13158 Staphylococcal scalded skin syndrome False False False -GARD:13160 Rhizomelic chondrodysplasia punctata False False False -GARD:13163 Methylmalonic acidemia without homocystinuria False False False -GARD:13167 Familial isolated trichomegaly False False False -GARD:13168 Corticobasal syndrome False False False -GARD:13169 CHST3-related skeletal dysplasia False False False -GARD:13171 Autosomal recessive brachyolmia False False False -GARD:13173 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG False False False -GARD:13174 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 False False False -GARD:13175 Renal medullary carcinoma False False False -GARD:13177 S-adenosylhomocysteine hydrolase deficiency False False False -GARD:13179 Intellectual developmental disorder, autosomal dominant 43 False False False -GARD:13186 Xanthoma disseminatum False False False -GARD:1319 Chromomycosis False False False -GARD:13197 Developmental and epileptic encephalopathy 94 False False False -GARD:13198 Infantile-onset periodic fever-panniculitis-dermatosis syndrome False False False -GARD:13199 Cystic leukoencephalopathy without megalencephaly False False False -GARD:132 Primary cutaneous amyloidosis False False False -GARD:1320 Ring chromosome 1 syndrome False False False -GARD:13200 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy False False False -GARD:13201 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency False False False -GARD:13202 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency False False False -GARD:13206 2q32q33 microdeletion syndrome False False False -GARD:13209 Pituitary stalk interruption syndrome False False False -GARD:13215 Renal cell carcinoma False False False -GARD:13218 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome False False False -GARD:13219 BAP1-related tumor predisposition syndrome False False False -GARD:1322 Ring chromosome 10 syndrome False False False -GARD:13221 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome False False False -GARD:13222 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy False False False -GARD:1323 Distal monosomy 10p False False False -GARD:13232 Familial acute necrotizing encephalopathy False False False -GARD:13235 Microphthalmia, syndromic 12 False False False -GARD:13237 Marginal zone lymphoma False False False -GARD:13244 X-linked intellectual disability, Cabezas type False False False -GARD:1325 Ring chromosome 12 syndrome False False False -GARD:13256 IgG4-related pachymeningitis False False False -GARD:13259 Bainbridge-Ropers syndrome False False False -GARD:13264 Infantile cerebellar-retinal degeneration False False False -GARD:1327 Mosaic trisomy 14 False False False -GARD:13273 Phosphoserine aminotransferase deficiency, infantile/juvenile form False False False -GARD:1328 Ring chromosome 15 syndrome False False False -GARD:13293 Bleeding diathesis due to glycoprotein VI deficiency False False False -GARD:13295 Familial focal epilepsy with variable foci False False False -GARD:13296 17q12 microduplication syndrome False False False -GARD:13297 17q12 microdeletion syndrome False False False -GARD:13298 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies False False False -GARD:13316 MAGEL2-related Prader-Willi-like syndrome False False False -GARD:13318 Developmental and epileptic encephalopathy 12 False False False -GARD:13319 Fatty acyl-CoA reductase 1 deficiency False False False -GARD:13320 Rhizomelic chondrodysplasia punctata type 5 False False False -GARD:1333 Ring chromosome 19 syndrome False False False -GARD:13331 Familial reactive perforating collagenosis False False False -GARD:13337 Idiopathic interstitial pneumonia False False False -GARD:13339 BENTA disease False False False -GARD:1334 Ring chromosome 20 syndrome False False False -GARD:13349 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome False False False -GARD:13354 Morning glory disc anomaly False False False -GARD:1336 Ring chromosome 22 syndrome False False False -GARD:13371 MAGIC syndrome False False False -GARD:13376 Epiphyseal dysplasia, multiple, 6 False False False -GARD:13378 Developmental and epileptic encephalopathy 17 False False False -GARD:13379 Intellectual developmental disorder, autosomal dominant 29 False False False -GARD:13388 Congenital generalized lipodystrophy False False False -GARD:13389 Lipodystrophy, congenital generalized, type 3 False False False -GARD:1339 Ring chromosome 4 syndrome False False False -GARD:13390 12q14 microdeletion syndrome False False False -GARD:13391 2p15p16.1 microdeletion syndrome False False False -GARD:134 Spondyloepimetaphyseal dysplasia congenita, Strudwick type False False False -GARD:13409 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome False False False -GARD:13418 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation False False False -GARD:13423 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome False False False -GARD:13425 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome False False False -GARD:13431 Temple syndrome False False False -GARD:13446 Plasmacytoma False False False -GARD:13447 PENS syndrome False False False -GARD:1345 Ring chromosome 7 syndrome False False False -GARD:13451 Kaposiform lymphangiomatosis False False False -GARD:13461 REN-related autosomal dominant tubulointerstitial kidney disease False False False -GARD:1347 Ring chromosome 8 syndrome False False False -GARD:13472 FTH1-related iron overload False False False -GARD:13474 Intellectual disability-epilepsy-extrapyramidal syndrome False False False -GARD:1348 Ring chromosome 9 syndrome False False False -GARD:13488 MEPAN syndrome False False False -GARD:13489 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome False False False -GARD:13519 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy False False False -GARD:13524 Intellectual developmental disorder, autosomal dominant 56 False False False -GARD:13527 DYRK1A-related intellectual disability syndrome False False False -GARD:13539 Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features False False False -GARD:1356 CINCA syndrome False False False -GARD:13565 Combined immunodeficiency due to LRBA deficiency False False False -GARD:13568 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation False False False -GARD:13571 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency False False False -GARD:1358 Intellectual disability-myopathy-short stature-endocrine defect syndrome False False False -GARD:13587 Combined immunodeficiency with granulomatosis False False False -GARD:13588 Pontiac fever False False False -GARD:1359 Chylous ascites False False False -GARD:13591 Postural orthostatic tachycardia syndrome due to NET deficiency False False False -GARD:13592 Severe congenital neutropenia False False False -GARD:13593 Rosette-forming glioneuronal tumor False False False -GARD:13594 Brain dopamine-serotonin vesicular transport disease False False False -GARD:1360 Ciliary discoordination due to random ciliary orientation False False False -GARD:13606 Subcorneal pustular dermatosis False False False -GARD:1361 Ciliary dyskinesia with transposition of ciliary microtubules False False False -GARD:13613 Pneumonia caused by Pseudomonas aeruginosa infection False False False -GARD:13621 CAD-CDG False False False -GARD:13629 Drug reaction with eosinophilia and systemic symptoms False False False -GARD:13636 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome False False False -GARD:13638 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability False False False -GARD:13639 Classic galactosemia False False False -GARD:13641 Familial cerebral cavernous malformation False False False -GARD:13643 Mitochondrial DNA depletion syndrome False False False -GARD:13644 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency False False False -GARD:13655 Orofaciodigital syndrome type 14 False False False -GARD:13658 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder False False False -GARD:13661 Classic multiminicore myopathy False False False -GARD:13663 Familial sick sinus syndrome False False False -GARD:13676 Developmental and epileptic encephalopathy 18 False False False -GARD:13686 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant False False False -GARD:1369 Tibial aplasia-ectrodactyly syndrome False False False -GARD:13701 Primary cutaneous follicle center lymphoma False False False -GARD:13708 Warsaw breakage syndrome False False False -GARD:13712 Combined immunodeficiency due to partial RAG1 deficiency False False False -GARD:13731 T-cell prolymphocytic leukemia False False False -GARD:13737 Spastic paraplegia 51, autosomal recessive False False False -GARD:13743 Multicentric osteolysis, nodulosis, and arthropathy False False False -GARD:13774 White-Sutton syndrome False False False -GARD:13781 AICA-ribosiduria False False False -GARD:13789 Luscan-Lumish syndrome False False False -GARD:13806 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome False False False -GARD:13809 Fundus albipunctatus False False False -GARD:13811 Malan overgrowth syndrome False False False -GARD:13818 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency False False False -GARD:13824 Proteasome-associated autoinflammatory syndrome False False False -GARD:139 Familial atrial myxoma False False False -GARD:1391 Cleft palate-lateral synechia syndrome False False False -GARD:1392 Cleft palate-short stature-vertebral anomalies syndrome False False False -GARD:1393 Cleft palate-stapes fixation-oligodontia syndrome False False False -GARD:1394 X-linked cleft palate and ankyloglossia False False False -GARD:140 Atresia of small intestine False False False -GARD:1402 Thanatophoric dysplasia type 2 False False False -GARD:1404 Micromelic bone dysplasia with cloverleaf skull False False False -GARD:1410 Joubert syndrome with hepatic defect False False False -GARD:1413 Cocaine embryofetopathy False False False -GARD:1415 Cockayne syndrome type 1 False False False -GARD:1417 Cockayne syndrome type 3 False False False -GARD:1418 CODAS syndrome False False False -GARD:1420 Cockayne syndrome type 2 False False False -GARD:1421 Cogan syndrome False False False -GARD:1425 Cole-Carpenter syndrome False False False -GARD:1428 Dislocation of the hip-dysmorphism syndrome False False False -GARD:143 Hypertrichosis cubiti False False False -GARD:1433 Coloboma of eye lens False False False -GARD:1434 Coloboma of iris False False False -GARD:1436 Coloboma of macula False False False -GARD:1437 Coloboma of macula-brachydactyly type B syndrome False False False -GARD:1438 Coloboma of optic disc False False False -GARD:144 Prominent glabella-microcephaly-hypogenitalism syndrome False False False -GARD:1440 Uveal coloboma-cleft lip and palate-intellectual disability False False False -GARD:1443 Anophthalmia/microphthalmia-esophageal atresia syndrome False False False -GARD:1446 Colonic atresia False False False -GARD:1452 Complement component 2 deficiency False False False -GARD:1454 Complete atrioventricular septal defect False False False -GARD:1460 Conductive deafness-malformed external ear syndrome False False False -GARD:1462 Cone-rod dystrophy, x-linked, 2 False False False -GARD:1463 Jalili syndrome False False False -GARD:1465 Congenital lipoid adrenal hyperplasia due to STAR deficency False False False -GARD:1467 Congenital adrenal hyperplasia False False False -GARD:1469 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency False False False -GARD:1470 Alopecia, congenital False False False -GARD:1474 Autosomal dominant congenital benign spinal muscular atrophy False False False -GARD:1475 Congenital respiratory-biliary fistula False False False -GARD:1480 Fetal cytomegalovirus syndrome False False False -GARD:1481 Congenital diaphragmatic hernia False False False -GARD:1487 Congenital hypothyroidism False False False -GARD:1489 Congenital ichthyosis-microcephalus-tetraplegia syndrome False False False -GARD:1493 Congenital mesoblastic nephroma False False False -GARD:1495 Congenital mitral malformation False False False -GARD:1496 Congenital mitral stenosis False False False -GARD:1500 Congenital nephrotic syndrome, Finnish type False False False -GARD:15000 LIG4 syndrome False False False -GARD:15001 VEXAS syndrome False False False -GARD:15002 AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY False False False -GARD:15003 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome False False False -GARD:15004 FADD-related immunodeficiency False False False -GARD:15005 PACAK-ZHUANG syndrome False False False -GARD:15006 STAT5 Haploinsuffciency False False False -GARD:15007 Warburg-Cinotti syndrome False False False -GARD:15008 Okur-Chung neurodevelopmental syndrome (OCNDS) False False False -GARD:15010 Hereditary breast and ovarian cancer syndrome False False False -GARD:15011 Hypophosphatemic rickets, x-linked recessive False False False -GARD:15012 Autosomal recessive malignant osteopetrosis False False False -GARD:15013 Craniometaphyseal dysplasia False False False -GARD:15014 Solitary fibrous tumor/hemangiopericytoma False False False -GARD:15015 Achromatopsia False False False -GARD:15016 Striate palmoplantar keratoderma False False False -GARD:15017 Trichorhinophalangeal syndrome type 1 and 3 False False False -GARD:15018 Interatrial communication False False False -GARD:15019 Fibronectin glomerulopathy False False False -GARD:1502 Short bowel syndrome False False False -GARD:15020 Non-acquired panhypopituitarism False False False -GARD:15021 Angioma serpiginosum False False False -GARD:15022 Postsynaptic congenital myasthenic syndromes False False False -GARD:15023 Presynaptic congenital myasthenic syndromes False False False -GARD:15024 Multiple epiphyseal dysplasia due to collagen 9 anomaly False False False -GARD:15025 Immunodeficiency due to a classical component pathway complement deficiency False False False -GARD:15026 Hermansky-Pudlak syndrome due to AP-3 deficiency False False False -GARD:15027 Pulmonary capillary hemangiomatosis False False False -GARD:15028 Non-specific early-onset epileptic encephalopathy False False False -GARD:15029 Aarskog syndrome, autosomal dominant False False False -GARD:1503 Femoral agenesis/hypoplasia False False False -GARD:15030 Acrodysostosis 1 with or without hormone resistance False False False -GARD:15031 Acroosteolysis False False False -GARD:15032 Spermatogenic failure 6 False False False -GARD:15033 Adrenocortical hypofunction, chronic primary congenital False False False -GARD:15034 Allergic bronchopulmonary aspergillosis, familial False False False -GARD:15035 Alopecia areata 1 False False False -GARD:15036 Alternating hemiplegia of childhood 1 False False False -GARD:15037 Amelogenesis imperfecta, type ib False False False -GARD:15038 Amelogenesis imperfecta, type ia False False False -GARD:15039 Diamond-blackfan anemia 1 False False False -GARD:15040 Nail disorder, nonsyndromic congenital, 6 False False False -GARD:15041 Spermatogenic failure 2 False False False -GARD:15042 Leukemia, chronic lymphocytic, susceptibility to, 2 False False False -GARD:15043 Biliary cirrhosis, primary, 1 False False False -GARD:15044 Bifid nose, autosomal dominant False False False -GARD:15045 Breasts and/or nipples, aplasia or hypoplasia of, 1 False False False -GARD:15046 Cataract 7 False False False -GARD:15047 Cataract 1, multiple types False False False -GARD:15048 Sotos syndrome False False False -GARD:15049 Klippel-feil syndrome 1, autosomal dominant False False False -GARD:15050 Split-hand/foot malformation with long bone deficiency 1 False False False -GARD:15051 Familial cold autoinflammatory syndrome 1 False False False -GARD:15052 Lynch syndrome i False False False -GARD:15053 Branchiootic syndrome 2 False False False -GARD:15054 Seizures, benign familial neonatal, 2 False False False -GARD:15055 Cutis laxa, autosomal dominant 1 False False False -GARD:15056 Mitochondrial complex iii deficiency, nuclear type 1 False False False -GARD:15057 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy False False False -GARD:15058 Diabetes insipidus, nephrogenic, 2, autosomal False False False -GARD:15059 Digitotalar dysmorphism False False False -GARD:15060 Basal laminar drusen False False False -GARD:15061 Dystonia 1, torsion, autosomal dominant False False False -GARD:15062 Ectopia lentis 1, isolated, autosomal dominant False False False -GARD:15063 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 False False False -GARD:15064 Elliptocytosis 2 False False False -GARD:15065 Photoparoxysmal response 1 False False False -GARD:15066 Erythroleukemia, familial, susceptibility to False False False -GARD:15067 Cockayne syndrome b False False False -GARD:15068 Exudative vitreoretinopathy 1 False False False -GARD:15069 Familial mediterranean fever, autosomal dominant False False False -GARD:15070 Desmoid disease, hereditary False False False -GARD:15071 Zimmermann-laband syndrome 1 False False False -GARD:15072 Coffin-siris syndrome 1 False False False -GARD:15076 Hirschsprung disease, susceptibility to, 1 False False False -GARD:15077 Hyperlipidemia, familial combined, 3 False False False -GARD:15078 Hypotrichosis 4 False False False -GARD:15079 Cholestasis, intrahepatic, of pregnancy, 1 False False False -GARD:15080 Kaposi sarcoma, susceptibility to False False False -GARD:15081 Palmoplantar keratoderma, punctate type ia False False False -GARD:15082 Bernard-soulier syndrome, type a2, autosomal dominant False False False -GARD:15083 46,xy sex reversal 4 False False False -GARD:15086 Mirror movements 1 False False False -GARD:15087 Facioscapulohumeral muscular dystrophy 1 False False False -GARD:15088 Facioscapulohumeral muscular dystrophy 2, digenic False False False -GARD:15089 Muscular dystrophy, pseudohypertrophic, with internalized capillaries False False False -GARD:15090 Carney complex, type 1 False False False -GARD:15091 Narcolepsy 1 False False False -GARD:15092 Nasopharyngeal carcinoma, susceptibility to, 2 False False False -GARD:15093 Candidiasis, familial, 6 False False False -GARD:15094 Neurofibromatosis, type iii, mixed central and peripheral False False False -GARD:15095 Neuropathy, hereditary sensory and autonomic, type ia False False False -GARD:15096 Night blindness, congenital stationary, autosomal dominant 2 False False False -GARD:15097 Oculopharyngodistal myopathy 1 False False False -GARD:15098 Optic atrophy with demyelinating disease of cns False False False -GARD:15099 Optic atrophy 1 False False False -GARD:15100 Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures False False False -GARD:15101 Hypertrophic osteoarthropathy, primary, autosomal dominant False False False -GARD:15102 Pachyonychia congenita 1 False False False -GARD:15103 Pachyonychia congenita 2 False False False -GARD:15104 Pancreas, dorsal, agenesis of False False False -GARD:15105 Pheochromocytoma False False False -GARD:15106 Gist-plus syndrome False False False -GARD:15107 Brain small vessel disease 1 with or without ocular anomalies False False False -GARD:15108 Porokeratosis 1, multiple types False False False -GARD:15109 Retinal aplasia False False False -GARD:15110 Retinitis pigmentosa 10 False False False -GARD:15111 Retinopathy, pericentral pigmentary, dominant False False False -GARD:15112 Schistosoma mansoni infection, susceptibility/resistance to False False False -GARD:15113 Spinal arachnoiditis False False False -GARD:15114 Spondyloepiphyseal dysplasia tarda, autosomal dominant False False False -GARD:15115 Multiple synostoses syndrome 1 False False False -GARD:15116 Thoracolaryngopelvic dysplasia False False False -GARD:15117 Bleeding disorder, platelet-type, 17 False False False -GARD:15118 Digeorge syndrome False False False -GARD:15119 Thyrotoxic periodic paralysis, susceptibility to, 1 False False False -GARD:1512 Hereditary continuous muscle fiber activity False False False -GARD:15120 Blount disease, infantile False False False -GARD:15121 Tuberous sclerosis 1 False False False -GARD:15122 Uncombable hair syndrome 1 False False False -GARD:15123 Velocardiofacial syndrome False False False -GARD:15124 Wilms tumor 1 False False False -GARD:15125 Wilms tumor 3 False False False -GARD:15126 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema False False False -GARD:15127 Abetalipoproteinemia False False False -GARD:15128 Carpenter syndrome 1 False False False -GARD:15129 Neuropathy, hereditary sensory and autonomic, type iia False False False -GARD:1513 Continuous spikes and waves during sleep False False False -GARD:15130 Acrorenal syndrome, autosomal recessive False False False -GARD:15131 Adrenal hypoplasia, cytomegalic type False False False -GARD:15132 Adrenocortical carcinoma, hereditary False False False -GARD:15133 Adrenocortical unresponsiveness to acth with postreceptor defect False False False -GARD:15134 Peroxisome biogenesis disorder 2b False False False -GARD:15135 Alopecia universalis congenita False False False -GARD:15136 Amelogenesis imperfecta, type ic False False False -GARD:15137 Amyotrophic lateral sclerosis 2, juvenile False False False -GARD:15138 Amyotrophic lateral sclerosis with polyglucosan bodies False False False -GARD:15139 Arthrogryposis, renal dysfunction, and cholestasis 1 False False False -GARD:15140 Short-rib thoracic dysplasia 1 with or without polydactyly False False False -GARD:15141 Ataxia-telangiectasia with generalized skin pigmentation and early death False False False -GARD:15142 Bifid nose, autosomal recessive False False False -GARD:15143 Seckel syndrome 1 False False False -GARD:15144 Microcephalic osteodysplastic primordial dwarfism, type i False False False -GARD:15145 Microcephalic osteodysplastic primordial dwarfism, type iii False False False -GARD:15146 Tumoral calcinosis, hyperphosphatemic, familial, 1 False False False -GARD:15148 Cardiac lipidosis, familial False False False -GARD:15149 Peroxisome biogenesis disorder 2a (zellweger) False False False -GARD:1515 Contractures-ectodermal dysplasia-cleft lip/palate syndrome False False False -GARD:15150 Cerebrooculofacioskeletal syndrome 1 False False False -GARD:15151 Klippel-feil syndrome 2, autosomal recessive False False False -GARD:15152 Chorea, benign familial False False False -GARD:15153 Coach syndrome 1 False False False -GARD:15154 Cockayne syndrome a False False False -GARD:15155 Complement component c1r/c1s deficiency False False False -GARD:15156 Craniodiaphyseal dysplasia False False False -GARD:15157 Cutis laxa, autosomal recessive, type ia False False False -GARD:15158 Mitochondrial complex iv deficiency, nuclear type 1 False False False -GARD:15159 Mitochondrial complex iv deficiency, nuclear type 5 False False False -GARD:1516 Restrictive dermopathy False False False -GARD:15160 Ritscher-schinzel syndrome 1 False False False -GARD:15161 Diaphragmatic hernia 2 False False False -GARD:15162 Meier-gorlin syndrome 1 False False False -GARD:15163 Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive False False False -GARD:15164 Ectopia lentis et pupillae False False False -GARD:15165 Hypothyroidism, congenital, nongoitrous, 5 False False False -GARD:15166 Split-hand/foot malformation 6 False False False -GARD:15167 Aicardi-goutieres syndrome 1 False False False -GARD:15168 Fanconi anemia, complementation group c False False False -GARD:15169 Fanconi anemia, complementation group d2 False False False -GARD:15170 Fanconi anemia, complementation group a False False False -GARD:15171 Fascial dystrophy, congenital False False False -GARD:15172 Geleophysic dysplasia 1 False False False -GARD:15173 Glycogen storage disease ic False False False -GARD:15174 46,xy sex reversal 7 False False False -GARD:15175 Granulomatous disease, chronic, autosomal recessive, 4 False False False -GARD:15176 Granulomatous disease, chronic, autosomal recessive, 1 False False False -GARD:15177 Granulomatous disease, chronic, autosomal recessive, 2 False False False -GARD:15179 Hemolytic anemia with thermal sensitivity of red cells False False False -GARD:1518 Benign familial neonatal-infantile seizures False False False -GARD:15180 Hemosiderosis, pulmonary, with deficiency of gamma-a globulin False False False -GARD:15181 Hennekam lymphangiectasia-lymphedema syndrome 1 False False False -GARD:15182 Hydrolethalus syndrome 1 False False False -GARD:15183 Hyperlysinemia due to defect in lysine transport into mitochondria False False False -GARD:15184 Immunodeficiency, common variable, 2 False False False -GARD:15185 Immunodeficiency 43 False False False -GARD:15186 Hypouricemia, hypercalcinuria, and decreased bone density False False False -GARD:15187 Ichthyosis, congenital, autosomal recessive 2 False False False -GARD:15188 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 False False False -GARD:15189 Baraitser-winter syndrome 1 False False False -GARD:1519 Benign familial neonatal epilepsy False False False -GARD:15190 Intrinsic factor and r binder, combined congenital deficiency of False False False -GARD:15191 Kuru, susceptibility to False False False -GARD:15192 Leprosy, susceptibility to, 3 False False False -GARD:15193 Split-hand/foot malformation 3 False False False -GARD:15194 Lymphokine deficiency False False False -GARD:15195 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 False False False -GARD:15196 Methemoglobinemia and ambiguous genitalia False False False -GARD:15197 Methemoglobinemia due to deficiency of methemoglobin reductase False False False -GARD:15198 Microcephaly 1, primary, autosomal recessive False False False -GARD:15199 Galloway-mowat syndrome 1 False False False -GARD:15200 Microphthalmia, isolated, with coloboma 4 False False False -GARD:15201 Mitochondrial complex i deficiency, nuclear type 1 False False False -GARD:15202 Mitochondrial complex ii deficiency, nuclear type 1 False False False -GARD:15203 Monocyte chemotactic disorder False False False -GARD:15204 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 False False False -GARD:15205 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 False False False -GARD:15206 Myasthenic syndrome, congenital, 10 False False False -GARD:15207 Myopathy, myosin storage, autosomal recessive False False False -GARD:15208 Myopathy, centronuclear, 2 False False False -GARD:15209 Nemaline myopathy 2 False False False -GARD:1521 Menkes disease False False False -GARD:15210 Nephrotic syndrome, type 4 False False False -GARD:15211 Neuroblastoma, susceptibility to, 1 False False False -GARD:15212 Night blindness, congenital stationary, type 1b False False False -GARD:15213 Oculodentodigital dysplasia, autosomal recessive False False False -GARD:15214 Spermatogenic failure 1 False False False -GARD:15215 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 False False False -GARD:15216 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 False False False -GARD:15217 Blount disease, adolescent False False False -GARD:15218 Osteoporosis, juvenile False False False -GARD:15219 Pachyonychia congenita, autosomal recessive False False False -GARD:1522 Familial benign copper deficiency False False False -GARD:15220 Pancreatic agenesis 1 False False False -GARD:15221 Shwachman-diamond syndrome 1 False False False -GARD:15222 Pituitary hormone deficiency, combined, 2 False False False -GARD:15223 Gillessen-kaesbach-nishimura syndrome False False False -GARD:15224 Short-rib thoracic dysplasia 6 with or without polydactyly False False False -GARD:15225 Prenatal bowing False False False -GARD:15226 Peroxisome biogenesis disorder 3b False False False -GARD:15227 Short-rib thoracic dysplasia 9 with or without polydactyly False False False -GARD:15228 Renal tubular acidosis iii False False False -GARD:15229 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss False False False -GARD:15230 Retinitis pigmentosa, late-adult onset False False False -GARD:15231 Retinopathy, pericentral pigmentary, autosomal recessive False False False -GARD:15232 Rheumatic fever-related antigen False False False -GARD:15233 Sclerosteosis 1 False False False -GARD:15234 Seizures, benign familial neonatal, autosomal recessive False False False -GARD:15235 Spermatogenic failure 4 False False False -GARD:15236 Spherocytosis, type 3 False False False -GARD:15237 Spondyloepiphyseal dysplasia tarda, autosomal recessive False False False -GARD:15238 Tetraamelia syndrome 1 False False False -GARD:15239 Three m syndrome 1 False False False -GARD:15240 Glanzmann thrombasthenia 1 False False False -GARD:15241 Usher syndrome, type iia False False False -GARD:15242 Usher syndrome, type iiia False False False -GARD:15243 Vas deferens, congenital bilateral aplasia of False False False -GARD:15244 Pontocerebellar hypoplasia, type 2a False False False -GARD:15245 Waardenburg syndrome, type 4a False False False -GARD:15246 Weill-marchesani syndrome 1 False False False -GARD:15247 Hypotrichosis 8 False False False -GARD:15248 Myopathy due to myoadenylate deaminase deficiency False False False -GARD:15249 46,xx sex reversal 2 False False False -GARD:1525 Spinocerebellar degeneration-corneal dystrophy syndrome False False False -GARD:15250 Ichthyosis, x-linked, without steroid sulfatase deficiency False False False -GARD:15251 Night blindness, congenital stationary, type 2a False False False -GARD:15253 Prostate cancer, hereditary, x-linked 1 False False False -GARD:15254 Intellectual developmental disorder, x-linked, syndromic, lubs type False False False -GARD:15255 Progressive familial intrahepatic cholestasis False False False -GARD:15256 Polymicrogyria, bilateral perisylvian, x-linked False False False -GARD:15257 Fanconi anemia, complementation group b False False False -GARD:15258 Myopathy, congenital, with fiber-type disproportion, x-linked False False False -GARD:15259 Cornelia de lange syndrome 2 False False False -GARD:15260 Prostate cancer, hereditary, x-linked 2 False False False -GARD:15261 Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset False False False -GARD:15262 Reducing body myopathy, x-linked 1b, with late childhood or adult onset False False False -GARD:15263 Surfactant metabolism dysfunction, pulmonary, 4 False False False -GARD:15264 Intellectual developmental disorder, x-linked, syndromic, raymond type False False False -GARD:15265 Joubert syndrome 10 False False False -GARD:15266 Chromosome xq28 duplication syndrome False False False -GARD:15267 46,xx sex reversal 3 False False False -GARD:15268 Macular degeneration, x-linked atrophic False False False -GARD:15269 Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia False False False -GARD:15270 Kabuki syndrome 2 False False False -GARD:15271 Cornelia de lange syndrome 5 False False False -GARD:15272 Linear skin defects with multiple congenital anomalies 2 False False False -GARD:15273 Olmsted syndrome, x-linked False False False -GARD:15274 Pituitary adenoma 2, growth hormone-secreting False False False -GARD:15275 Diamond-blackfan anemia 14 with mandibulofacial dysostosis False False False -GARD:15276 Linear skin defects with multiple congenital anomalies 3 False False False -GARD:15277 Trichothiodystrophy 5, nonphotosensitive False False False -GARD:15278 Ritscher-schinzel syndrome 2 False False False -GARD:15279 Vas deferens, congenital bilateral aplasia of, x-linked False False False -GARD:15280 Ciliary dyskinesia, primary, 36, x-linked False False False -GARD:15281 Galloway-mowat syndrome 2, x-linked False False False -GARD:15282 Intellectual developmental disorder, x-linked, syndromic, houge type False False False -GARD:15283 Mitochondrial complex i deficiency, nuclear type 12 False False False -GARD:15284 Mitochondrial complex i deficiency, nuclear type 30 False False False -GARD:15285 Nephrotic syndrome, type 20 False False False -GARD:15286 Developmental and epileptic encephalopathy 90 False False False -GARD:15287 Cardiomyopathy, dilated, 3b False False False -GARD:15289 Diabetes insipidus, nephrogenic, 1, x-linked False False False -GARD:1529 Corneal dystrophy-perceptive deafness syndrome False False False -GARD:15290 Dyggve-melchior-clausen syndrome, x-linked False False False -GARD:15291 Epidermodysplasia verruciformis, x-linked False False False -GARD:15292 Exudative vitreoretinopathy 2, x-linked False False False -GARD:15293 Frontometaphyseal dysplasia 1 False False False -GARD:15294 Granulomatous disease, chronic, x-linked False False False -GARD:15295 Hernia, anterior diaphragmatic False False False -GARD:15296 Hypouricemia, familial renal, due to tubular hypersecretion False False False -GARD:15297 Ifap syndrome 1, with or without bresheck syndrome False False False -GARD:15298 Developmental and epileptic encephalopathy 1 False False False -GARD:15299 Keratosis follicularis spinulosa decalvans, x-linked False False False -GARD:15300 Leber hereditary optic neuropathy, modifier of False False False -GARD:15301 Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis False False False -GARD:15302 Spermatogenic failure, x-linked, 2 False False False -GARD:15304 Microphthalmia, syndromic 1 False False False -GARD:15305 Nephrolithiasis, x-linked recessive, with renal failure False False False -GARD:15306 Night blindness, congenital stationary, type 1a False False False -GARD:15308 Split-hand/foot malformation 2 False False False -GARD:15309 Vacterl association, x-linked, with or without hydrocephalus False False False -GARD:1531 Corneodermatoosseous syndrome False False False -GARD:15310 Retinitis pigmentosa, y-linked False False False -GARD:15311 Leber optic atrophy and dystonia False False False -GARD:15312 Myopathy, lactic acidosis, and sideroblastic anemia 3 False False False -GARD:15313 Wolfram syndrome, mitochondrial form False False False -GARD:15314 Stargardt disease 3 False False False -GARD:15315 Hirschsprung disease, susceptibility to, 2 False False False -GARD:15316 Hirschsprung disease, susceptibility to, 5 False False False -GARD:15317 Muscular dystrophy, scapulohumeral False False False -GARD:15319 Epilepsy, nocturnal frontal lobe, 1 False False False -GARD:15320 Uv-sensitive syndrome 1 False False False -GARD:15321 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement False False False -GARD:15322 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 False False False -GARD:15323 Cardiomyopathy, dilated, 1b False False False -GARD:15324 Fanconi anemia, complementation group e False False False -GARD:15325 Wiskott-aldrich syndrome, autosomal dominant False False False -GARD:15326 Nephrotic syndrome, type 2 False False False -GARD:15327 Cataract 24 False False False -GARD:15328 Wilms tumor 4 False False False -GARD:15329 Platelet disorder, familial, with associated myeloid malignancy False False False -GARD:1533 Coronary arterial fistula False False False -GARD:15330 Myasthenic syndrome, congenital, 1a, slow-channel False False False -GARD:15331 Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction False False False -GARD:15332 Cardiomyopathy, dilated, 1d False False False -GARD:15334 Prostate cancer, hereditary, 1 False False False -GARD:15335 Cataract 3, multiple types False False False -GARD:15336 Wilms tumor 5 False False False -GARD:15337 Exudative vitreoretinopathy 4 False False False -GARD:1534 Coronary artery congenital malformation False False False -GARD:15340 Friedreich ataxia 2 False False False -GARD:15341 Fibrosis of extraocular muscles, congenital, 2 False False False -GARD:15342 Cone dystrophy 3 False False False -GARD:15343 Amyotrophic lateral sclerosis 5, juvenile False False False -GARD:15344 Nephropathy, progressive tubulointerstitial, with cholestatic liver disease False False False -GARD:15346 Auriculocondylar syndrome 1 False False False -GARD:15347 Chondrodysplasia punctata, brachytelephalangic, autosomal False False False -GARD:15348 Bartter syndrome, type 4a, neonatal, with sensorineural deafness False False False -GARD:15349 Ichthyosis, hystrix-like, with deafness False False False -GARD:15350 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss False False False -GARD:15351 Prostate cancer, hereditary, 8 False False False -GARD:15352 Epilepsy, nocturnal frontal lobe, 2 False False False -GARD:15353 Focal segmental glomerulosclerosis 1 False False False -GARD:15354 Thyroid carcinoma, nonmedullary, with or without cell oxyphilia False False False -GARD:15355 Fanconi anemia, complementation group f False False False -GARD:15356 Cone-rod dystrophy 7 False False False -GARD:15357 Prostate cancer/brain cancer susceptibility False False False -GARD:15358 Papillary thyroid microcarcinoma False False False -GARD:15359 Stargardt disease 4 False False False -GARD:15360 Microcephaly with simplified gyral pattern False False False -GARD:15361 Autoimmune lymphoproliferative syndrome, type iia False False False -GARD:15362 Focal segmental glomerulosclerosis 2 False False False -GARD:15363 Cardiomyopathy, dilated, 1g False False False -GARD:15364 Cataract 9, multiple types False False False -GARD:15365 Cardiomyopathy, dilated, 1h False False False -GARD:15366 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations False False False -GARD:15367 Microcephaly 4, primary, autosomal recessive False False False -GARD:15368 Advanced sleep phase syndrome, familial, 1 False False False -GARD:1537 Corpus callosum agenesis-neuronopathy syndrome False False False -GARD:15370 Van der woude syndrome 1, modifier of False False False -GARD:15372 Cardiomyopathy, dilated, 1i False False False -GARD:15373 Microcephaly 3, primary, autosomal recessive False False False -GARD:15374 Wolfram syndrome 2 False False False -GARD:15375 Cortisone reductase deficiency 1 False False False -GARD:15376 Hypobetalipoproteinemia, familial, 2 False False False -GARD:15377 Carney complex, type 2 False False False -GARD:15378 Split-hand/foot malformation 4 False False False -GARD:15379 Optic atrophy 4 False False False -GARD:15380 Epilepsy, nocturnal frontal lobe, 3 False False False -GARD:15381 Cone-rod dystrophy 8 False False False -GARD:15382 Cardiomyopathy, dilated, 1k False False False -GARD:15383 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 False False False -GARD:15384 Cerebellar ataxia and hypergonadotropic hypogonadism False False False -GARD:15385 Microphthalmia, isolated, with coloboma 2 False False False -GARD:15386 Exudative vitreoretinopathy 3 False False False -GARD:15387 Myasthenic syndrome, congenital, 4a, slow-channel False False False -GARD:15388 Narcolepsy 2, susceptibility to False False False -GARD:15389 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 False False False -GARD:15390 Diamond-blackfan anemia 15 with mandibulofacial dysostosis False False False -GARD:15391 Thyroid cancer, nonmedullary, 3 False False False -GARD:15392 Maturity-onset diabetes of the young False False False -GARD:15393 Ichthyosis, congenital, autosomal recessive 3 False False False -GARD:15394 Melanoma, uveal, susceptibility to, 1 False False False -GARD:15395 Melanoma, uveal, susceptibility to, 2 False False False -GARD:15396 Waardenburg syndrome, type 2c False False False -GARD:15397 Cardiomyopathy, dilated, 1l False False False -GARD:15398 Split-hand/foot malformation 5 False False False -GARD:15399 Seckel syndrome 2 False False False -GARD:15400 Ciliary dyskinesia, primary, 2 False False False -GARD:15401 Pancreatic cancer, susceptibility to, 1 False False False -GARD:15402 Hirschsprung disease, susceptibility to, 6 False False False -GARD:15403 Hirschsprung disease, susceptibility to, 7 False False False -GARD:15404 Usher syndrome, type ig False False False -GARD:15405 Senior-loken syndrome 3 False False False -GARD:15406 Senior-loken syndrome 4 False False False -GARD:15407 Brachydactyly, type a1, b False False False -GARD:15408 Aortic aneurysm, familial thoracic 1 False False False -GARD:15409 Aortic aneurysm, familial thoracic 2 False False False -GARD:15410 Moyamoya disease 2 False False False -GARD:15411 Smith-mccort dysplasia 1 False False False -GARD:15412 Glucocorticoid deficiency 2 False False False -GARD:15413 Cardiomyopathy, dilated, 1m False False False -GARD:15414 Atrial fibrillation, familial, 3 False False False -GARD:15415 Leprosy, susceptibility to, 2 False False False -GARD:15416 Pontocerebellar hypoplasia, type 1a False False False -GARD:15417 Ichthyosis, cyclic, with epidermolytic hyperkeratosis False False False -GARD:15418 Candidiasis, familial, 3 False False False -GARD:15420 Hypotrichosis-lymphedema-telangiectasia syndrome False False False -GARD:15421 Mitral valve prolapse 2 False False False -GARD:15422 Focal segmental glomerulosclerosis 3, susceptibility to False False False -GARD:15423 Hypotrichosis 6 False False False -GARD:15424 Periventricular heterotopia with microcephaly, autosomal recessive False False False -GARD:15425 Periventricular nodular heterotopia 3 False False False -GARD:15426 Cone-rod dystrophy 13 False False False -GARD:15427 Seizures, benign familial neonatal, 3 False False False -GARD:15428 Weill-marchesani syndrome 2 False False False -GARD:15429 Myopathy, myosin storage, autosomal dominant False False False -GARD:15430 Branchiootic syndrome 3 False False False -GARD:15431 Microcephaly 6, primary, autosomal recessive False False False -GARD:15432 Hirschsprung disease, susceptibility to, 8 False False False -GARD:15434 Cardiomyopathy, dilated, 1o False False False -GARD:15435 Joubert syndrome 3 False False False -GARD:15436 Ciliary dyskinesia, primary, 3 False False False -GARD:15437 Ciliary dyskinesia, primary, 4 False False False -GARD:15438 Ciliary dyskinesia, primary, 5 False False False -GARD:15439 Prostate cancer, hereditary, 3 False False False -GARD:1544 Congenitally corrected transposition of the great arteries False False False -GARD:15440 Prostate cancer, hereditary, 4 False False False -GARD:15441 Microcephaly 5, primary, autosomal recessive False False False -GARD:15442 Moyamoya disease 3 False False False -GARD:15443 Myoclonic epilepsy, juvenile, susceptibility to, 3 False False False -GARD:15444 Waardenburg syndrome, type 2d False False False -GARD:15445 Myasthenic syndrome, congenital, 1b, fast-channel False False False -GARD:15446 Atrial fibrillation, familial, 2 False False False -GARD:15447 Narcolepsy 3 False False False -GARD:15448 Fanconi anemia, complementation group i False False False -GARD:15449 Fanconi anemia, complementation group j False False False -GARD:15450 Glucocorticoid deficiency 3 False False False -GARD:15451 Senior-loken syndrome 5 False False False -GARD:15452 Nemaline myopathy 6 False False False -GARD:15453 Nemaline myopathy 1 False False False -GARD:15454 Nemaline myopathy 4 False False False -GARD:15455 Prostate cancer, hereditary, 5 False False False -GARD:15456 Developmental and epileptic encephalopathy 3 False False False -GARD:15457 Colorectal cancer, hereditary nonpolyposis, type 2 False False False -GARD:15458 Cerebrorenodigital syndrome with limb malformations and triradiate acetabula False False False -GARD:15459 Fibrosis of extraocular muscles, congenital, 3c False False False -GARD:15460 Left ventricular noncompaction 2 False False False -GARD:15461 Stickler syndrome, type i, nonsyndromic ocular False False False -GARD:15462 Prostate cancer, hereditary, 6 False False False -GARD:15463 Photoparoxysmal response 2 False False False -GARD:15464 Photoparoxysmal response 3 False False False -GARD:15465 Joubert syndrome 4 False False False -GARD:15466 Fibrosis of extraocular muscles, congenital, with synergistic divergence False False False -GARD:15467 Leukemia, chronic lymphocytic, susceptibility to, 1 False False False -GARD:15469 Cardiomyopathy, dilated, 1p False False False -GARD:15470 Cardiomyopathy, dilated, 1q False False False -GARD:15471 Microphthalmia, isolated, with coloboma 3 False False False -GARD:15472 Aicardi-goutieres syndrome 2 False False False -GARD:15473 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 False False False -GARD:15474 Diaphragmatic hernia 3 False False False -GARD:15475 Joubert syndrome 5 False False False -GARD:15476 Senior-loken syndrome 6 False False False -GARD:15477 Cone-rod dystrophy 10 False False False -GARD:15478 Prostate cancer, hereditary, 7 False False False -GARD:15479 Aicardi-goutieres syndrome 3 False False False -GARD:1548 Cortical blindness-intellectual disability-polydactyly syndrome False False False -GARD:15480 Aicardi-goutieres syndrome 4 False False False -GARD:15481 Epilepsy, nocturnal frontal lobe, 4 False False False -GARD:15482 Diabetes mellitus, transient neonatal, 2 False False False -GARD:15483 West nile virus, susceptibility to False False False -GARD:15484 Cone-rod dystrophy 11 False False False -GARD:15485 Cone-rod synaptic disorder, congenital nonprogressive False False False -GARD:15486 Macroglobulinemia, waldenstrom, susceptibility to, 2 False False False -GARD:15487 Night blindness, congenital stationary, autosomal dominant 3 False False False -GARD:15488 Night blindness, congenital stationary, autosomal dominant 1 False False False -GARD:15489 Pigmented nodular adrenocortical disease, primary, 2 False False False -GARD:15490 Diabetes mellitus, transient neonatal, 3 False False False -GARD:15492 Split-hand/foot malformation with long bone deficiency 2 False False False -GARD:15493 Nemaline myopathy 7 False False False -GARD:15494 Joubert syndrome 6 False False False -GARD:15495 Nephrotic syndrome, type 3 False False False -GARD:15496 Alopecia areata 2 False False False -GARD:15497 Cerebrooculofacioskeletal syndrome 2 False False False -GARD:15498 Cerebrooculofacioskeletal syndrome 4 False False False -GARD:15499 Cornelia de lange syndrome 3 with or without midline brain defects False False False -GARD:155 Laurin-Sandrow syndrome False False False -GARD:1550 Costello syndrome False False False -GARD:15500 Fanconi anemia, complementation group n False False False -GARD:15501 Mitral valve prolapse 3 False False False -GARD:15502 Ciliary dyskinesia, primary, 6 False False False -GARD:15503 Branchiootorenal syndrome 2 False False False -GARD:15504 Leprosy, susceptibility to, 4 False False False -GARD:15505 Prostate cancer, hereditary, 9 False False False -GARD:15506 Episodic kinesigenic dyskinesia 2 False False False -GARD:15507 Prostate cancer, hereditary, 10 False False False -GARD:15508 Retinitis pigmentosa 37 False False False -GARD:15509 Meckel syndrome, type 4 False False False -GARD:1551 Congenitally short costocoracoid ligament False False False -GARD:15510 Paroxysmal nonkinesigenic dyskinesia 2 False False False -GARD:15511 Short-rib thoracic dysplasia 2 with or without polydactyly False False False -GARD:15512 Atrial septal defect 4 False False False -GARD:15513 Myoclonic epilepsy, juvenile, susceptibility to, 4 False False False -GARD:15514 Usher syndrome, type iid False False False -GARD:15515 Cardiomyopathy, dilated, 1w False False False -GARD:15516 Atrial fibrillation, familial, 4 False False False -GARD:15517 Atrial fibrillation, familial, 5 False False False -GARD:15518 Leopard syndrome 2 False False False -GARD:15519 Joubert syndrome 7 False False False -GARD:15520 Meckel syndrome, type 5 False False False -GARD:15521 Waardenburg syndrome, type 2e False False False -GARD:15522 Cardiomyopathy, dilated, 1x False False False -GARD:15523 Epilepsy, familial temporal lobe, 4 False False False -GARD:15524 Microphthalmia, isolated, with coloboma 5 False False False -GARD:15525 Hirschsprung disease, susceptibility to, 9 False False False -GARD:15526 Brugada syndrome 2 False False False -GARD:15527 Aortic aneurysm, familial thoracic 6 False False False -GARD:15528 Elliptocytosis 1 False False False -GARD:15529 Prostate cancer, hereditary, 12 False False False -GARD:15530 Cardiomyopathy, dilated, 1y False False False -GARD:15531 Cardiomyopathy, dilated, 1z False False False -GARD:15532 Cardiomyopathy, dilated, 2a False False False -GARD:15533 Ciliary dyskinesia, primary, 7 False False False -GARD:15534 Prostate cancer, hereditary, 13 False False False -GARD:15535 Ventricular tachycardia, catecholaminergic polymorphic, 2 False False False -GARD:15536 Prostate cancer, hereditary, 11 False False False -GARD:15537 Prostate cancer, hereditary, 14 False False False -GARD:15538 Prostate cancer, hereditary, 15 False False False -GARD:15539 Coenzyme q10 deficiency, primary, 4 False False False -GARD:15540 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia False False False -GARD:15541 Hypouricemia, renal, 2 False False False -GARD:15542 Ectodermal dysplasia and immunodeficiency 2 False False False -GARD:15543 Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction False False False -GARD:15544 Atrial fibrillation, familial, 6 False False False -GARD:15545 Atrial fibrillation, familial, 7 False False False -GARD:15546 Ciliary dyskinesia, primary, 8 False False False -GARD:15547 Ichthyosis, congenital, autosomal recessive 6 False False False -GARD:15548 Meckel syndrome, type 6 False False False -GARD:15549 Joubert syndrome 9 False False False -GARD:1555 Pelviscapular dysplasia False False False -GARD:15550 Joubert syndrome 8 False False False -GARD:15551 Porokeratosis 5, disseminated superficial actinic type False False False -GARD:15552 Porokeratosis 6, multiple types False False False -GARD:15553 Pontocerebellar hypoplasia, type 2b False False False -GARD:15554 Pontocerebellar hypoplasia, type 2c False False False -GARD:15555 Narcolepsy 4, susceptibility to False False False -GARD:15556 Epilepsy, progressive myoclonic, 1b False False False -GARD:15557 Leukodystrophy, hypomyelinating, 6 False False False -GARD:15558 Ciliary dyskinesia, primary, 9 False False False -GARD:15559 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome False False False -GARD:15560 Ciliary dyskinesia, primary, 10 False False False -GARD:15561 Diamond-blackfan anemia 4 False False False -GARD:15562 Diamond-blackfan anemia 5 False False False -GARD:15563 Amelogenesis imperfecta, hypomaturation type, iia2 False False False -GARD:15564 Focal segmental glomerulosclerosis 4, susceptibility to False False False -GARD:15565 Leukemia, chronic lymphocytic, susceptibility to, 3 False False False -GARD:15566 Leukemia, chronic lymphocytic, susceptibility to, 4 False False False -GARD:15567 Leukemia, chronic lymphocytic, susceptibility to, 5 False False False -GARD:15568 Diamond-blackfan anemia 6 False False False -GARD:15569 Diamond-blackfan anemia 7 False False False -GARD:15570 Diamond-blackfan anemia 8 False False False -GARD:15571 Retinitis pigmentosa 46 False False False -GARD:15572 Chromosome 17p13.3, telomeric, duplication syndrome False False False -GARD:15573 Usher syndrome, type ih False False False -GARD:15574 Ciliary dyskinesia, primary, 11 False False False -GARD:15575 Ciliary dyskinesia, primary, 12 False False False -GARD:15576 Spherocytosis, type 4 False False False -GARD:15577 Cone-rod dystrophy 12 False False False -GARD:15578 Spherocytosis, type 5 False False False -GARD:15579 Agammaglobulinemia 6, autosomal recessive False False False -GARD:1558 Coxoauricular syndrome False False False -GARD:15580 Microcephaly 7, primary, autosomal recessive False False False -GARD:15581 Dyschromatosis universalis hereditaria 2 False False False -GARD:15582 Cone-rod dystrophy 9 False False False -GARD:15583 Question mark ears, isolated False False False -GARD:15584 Brugada syndrome 5 False False False -GARD:15585 Hypotrichosis 5 False False False -GARD:15586 Keratosis follicularis spinulosa decalvans, autosomal dominant False False False -GARD:15587 Narcolepsy 5, susceptibility to False False False -GARD:15588 Cardiomyopathy, dilated, 1bb False False False -GARD:15589 Chromosome 5q14.3 deletion syndrome, distal False False False -GARD:15590 Keratosis palmoplantaris striata ii False False False -GARD:15591 Three m syndrome 2 False False False -GARD:15592 Spastic paraplegia 50, autosomal recessive False False False -GARD:15593 Retinitis pigmentosa 42 False False False -GARD:15595 Long qt syndrome 12 False False False -GARD:15596 Ventricular fibrillation, paroxysmal familial, 2 False False False -GARD:15597 Multiple synostoses syndrome 3 False False False -GARD:15598 46,xy sex reversal 3 False False False -GARD:15599 Cataract 34, multiple types False False False -GARD:156 Muscle-eye-brain disease False False False -GARD:15600 Immunodeficiency 83, susceptibility to viral infections False False False -GARD:15601 Biliary cirrhosis, primary, 2 False False False -GARD:15602 Biliary cirrhosis, primary, 3 False False False -GARD:15603 Neuroblastoma, susceptibility to, 2 False False False -GARD:15604 Neuroblastoma, susceptibility to, 3 False False False -GARD:15605 Neuroblastoma, susceptibility to, 4 False False False -GARD:15606 Neuroblastoma, susceptibility to, 5 False False False -GARD:15607 Neuroblastoma, susceptibility to, 6 False False False -GARD:15608 Follicular lymphoma, susceptibility to, 1 False False False -GARD:15609 Atrial fibrillation, familial, 8 False False False -GARD:1561 Crandall syndrome False False False -GARD:15610 Metaphyseal anadysplasia 2 False False False -GARD:15611 46,xy sex reversal 5 False False False -GARD:15612 Bartter syndrome, type 4b, neonatal, with sensorineural deafness False False False -GARD:15613 Short-rib thoracic dysplasia 3 with or without polydactyly False False False -GARD:15614 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease False False False -GARD:15615 Choroidal dystrophy, central areolar 2 False False False -GARD:15616 Neutropenia, severe congenital, 2, autosomal dominant False False False -GARD:15617 Candidiasis, familial, 4 False False False -GARD:15618 Neuropathy, hereditary sensory and autonomic, type iib False False False -GARD:15619 Brugada syndrome 6 False False False -GARD:15620 Brugada syndrome 7 False False False -GARD:15621 Cardiomyopathy, dilated, 1cc False False False -GARD:15622 Brugada syndrome 8 False False False -GARD:15623 Choroidal dystrophy, central areolar, 3 False False False -GARD:15624 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 False False False -GARD:15625 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 False False False -GARD:15626 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 False False False -GARD:15627 Cardiomyopathy, dilated, 1dd False False False -GARD:15628 Ciliary dyskinesia, primary, 13 False False False -GARD:15629 Retinitis pigmentosa 50 False False False -GARD:15630 Amelogenesis imperfecta, hypomaturation type, iia3 False False False -GARD:15631 Night blindness, congenital stationary, type 1c False False False -GARD:15632 Leprosy, susceptibility to, 5 False False False -GARD:15633 Factor xiii, a subunit, deficiency of False False False -GARD:15634 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 False False False -GARD:15635 Factor xiii, b subunit, deficiency of False False False -GARD:15636 Focal segmental glomerulosclerosis 5 False False False -GARD:15637 Thyrotoxic periodic paralysis, susceptibility to, 2 False False False -GARD:15638 Colorectal cancer, hereditary nonpolyposis, type 8 False False False -GARD:15639 Cardiomyopathy, dilated, 1ee False False False -GARD:1564 Cranio-osteoarthropathy False False False -GARD:15640 Tuberous sclerosis 2 False False False -GARD:15641 Waardenburg syndrome, type 4b False False False -GARD:15642 Waardenburg syndrome, type 4c False False False -GARD:15643 Cardiomyopathy, dilated, 1ff False False False -GARD:15644 Diamond-blackfan anemia 9 False False False -GARD:15645 Diamond-blackfan anemia 10 False False False -GARD:15646 Exudative vitreoretinopathy 5 False False False -GARD:15647 Hemochromatosis, type 2b False False False -GARD:15648 Miyoshi muscular dystrophy 2 False False False -GARD:15649 Hypokalemic periodic paralysis, type 2 False False False -GARD:15650 Pancreatic cancer, susceptibility to, 2 False False False -GARD:15651 Pancreatic cancer, susceptibility to, 3 False False False -GARD:15652 Maturity-onset diabetes of the young, type 10 False False False -GARD:15653 Maturity-onset diabetes of the young, type 11 False False False -GARD:15654 Brachydactyly, type e2 False False False -GARD:15655 Fanconi renotubular syndrome 2 False False False -GARD:15656 Fanconi anemia, complementation group o False False False -GARD:15657 Breast-ovarian cancer, familial, susceptibility to, 3 False False False -GARD:15658 Arthrogryposis, renal dysfunction, and cholestasis 2 False False False -GARD:15659 Leprosy, susceptibility to, 6 False False False -GARD:15660 Oguchi disease 2 False False False -GARD:15661 Cardiomyopathy, dilated, 1r False False False -GARD:15662 Retinitis pigmentosa 54 False False False -GARD:15663 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia False False False -GARD:15664 Rett syndrome, congenital variant False False False -GARD:15665 Retinitis pigmentosa 51 False False False -GARD:15666 Long qt syndrome 13 False False False -GARD:15667 Myxoid liposarcoma False False False -GARD:15668 Immunodeficiency, common variable, 3 False False False -GARD:15669 Immunodeficiency, common variable, 4 False False False -GARD:1567 Craniodiaphyseal dysplasia False False False -GARD:15670 Immunodeficiency, common variable, 5 False False False -GARD:15671 Immunodeficiency, common variable, 6 False False False -GARD:15672 Agammaglobulinemia 2, autosomal recessive False False False -GARD:15673 Agammaglobulinemia 3, autosomal recessive False False False -GARD:15674 Agammaglobulinemia 4, autosomal recessive False False False -GARD:15675 Agammaglobulinemia 5, autosomal dominant False False False -GARD:15676 Myopathy, lactic acidosis, and sideroblastic anemia 2 False False False -GARD:15677 Retinitis pigmentosa 55 False False False -GARD:15678 Retinitis pigmentosa 56 False False False -GARD:15679 Retinitis pigmentosa 57 False False False -GARD:15680 Cranioectodermal dysplasia 2 False False False -GARD:15681 Senior-loken syndrome 7 False False False -GARD:15682 Retinitis pigmentosa 58 False False False -GARD:15683 Neuropathy, hereditary sensory and autonomic, type ic False False False -GARD:15684 Cardiomyopathy, dilated, 1gg False False False -GARD:15685 D-2-hydroxyglutaric aciduria 2 False False False -GARD:15686 Cone-rod dystrophy 15 False False False -GARD:15687 Seckel syndrome 4 False False False -GARD:15688 Chromosome 2q31.1 duplication syndrome False False False -GARD:15689 Cardiomyopathy, dilated, 1u False False False -GARD:15690 Cardiomyopathy, dilated, 1v False False False -GARD:15691 Klippel-feil syndrome 3, autosomal dominant False False False -GARD:15692 Microphthalmia, isolated, with coloboma 6 False False False -GARD:15693 Noonan syndrome 7 False False False -GARD:15694 Leopard syndrome 3 False False False -GARD:15695 Neuropathy, hereditary sensory, type id False False False -GARD:15696 Hirschsprung disease, susceptibility to, 3 False False False -GARD:15697 Hirschsprung disease, susceptibility to, 4 False False False -GARD:15698 Treacher collins syndrome 2 False False False -GARD:15699 Developmental and epileptic encephalopathy 11 False False False -GARD:157 Hirschsprung disease-deafness-polydactyly syndrome False False False -GARD:15700 Retinitis pigmentosa 27 False False False -GARD:15701 Retinitis pigmentosa 49 False False False -GARD:15702 Retinitis pigmentosa 47 False False False -GARD:15703 46,xy sex reversal 6 False False False -GARD:15704 Retinitis pigmentosa 45 False False False -GARD:15705 Retinitis pigmentosa 44 False False False -GARD:15706 Aortic aneurysm, familial thoracic 7 False False False -GARD:15707 Complement component c1s deficiency False False False -GARD:15708 Meier-gorlin syndrome 2 False False False -GARD:15709 Retinitis pigmentosa 40 False False False -GARD:1571 Craniofacial-deafness-hand syndrome False False False -GARD:15710 Meier-gorlin syndrome 3 False False False -GARD:15711 Meier-gorlin syndrome 4 False False False -GARD:15712 Meier-gorlin syndrome 5 False False False -GARD:15713 Ciliary dyskinesia, primary, 14 False False False -GARD:15714 Ciliary dyskinesia, primary, 15 False False False -GARD:15715 Retinitis pigmentosa 39 False False False -GARD:15716 Retinitis pigmentosa 43 False False False -GARD:15717 Pontocerebellar hypoplasia, type 2d False False False -GARD:15718 Short-rib thoracic dysplasia 4 with or without polydactyly False False False -GARD:15719 Seckel syndrome 5 False False False -GARD:15720 Retinitis pigmentosa 48 False False False -GARD:15721 Night blindness, congenital stationary, type 1d False False False -GARD:15722 Osteogenesis imperfecta, type xii False False False -GARD:15723 Achromatopsia 4 False False False -GARD:15724 Retinitis pigmentosa 59 False False False -GARD:15725 Retinitis pigmentosa 38 False False False -GARD:15726 Cardiomyopathy, dilated, 1hh False False False -GARD:15727 Meckel syndrome, type 8 False False False -GARD:15728 Megalencephalic leukoencephalopathy with subcortical cysts 2a False False False -GARD:15729 Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation False False False -GARD:15730 Alopecia-intellectual disability syndrome 3 False False False -GARD:15731 Fanconi anemia, complementation group p False False False -GARD:15732 Immunodeficiency 51 False False False -GARD:15733 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 False False False -GARD:15734 Spermatogenic failure 8 False False False -GARD:15735 Spermatogenic failure 9 False False False -GARD:15736 Granulomatous disease, chronic, autosomal recessive, 3 False False False -GARD:15737 Atrial fibrillation, familial, 9 False False False -GARD:15738 Retinitis pigmentosa 60 False False False -GARD:15739 Dyskeratosis congenita, autosomal recessive 2 False False False -GARD:15740 Dyskeratosis congenita, autosomal recessive 3 False False False -GARD:15741 Dyskeratosis congenita, autosomal dominant 2 False False False -GARD:15742 Dyskeratosis congenita, autosomal dominant 3 False False False -GARD:15743 Ciliary dyskinesia, primary, 16 False False False -GARD:15744 Ventricular tachycardia, catecholaminergic polymorphic, 3 False False False -GARD:15745 Atrial fibrillation, familial, 10 False False False -GARD:15746 Moyamoya disease 5 False False False -GARD:15747 Atrial fibrillation, familial, 11 False False False -GARD:15748 Atrial fibrillation, familial, 12 False False False -GARD:15749 Spastic paraplegia 47, autosomal recessive False False False -GARD:1575 Non-syndromic bilambdoid and sagittal craniosynostosis False False False -GARD:15750 Spastic paraplegia 52, autosomal recessive False False False -GARD:15751 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 False False False -GARD:15752 Aspergillosis, susceptibility to False False False -GARD:15753 Fanconi anemia, complementation group g False False False -GARD:15754 Fanconi anemia, complementation group l False False False -GARD:15755 Atrial septal defect 3 False False False -GARD:15756 Short-rib thoracic dysplasia 7 with or without polydactyly False False False -GARD:15757 Cranioectodermal dysplasia 3 False False False -GARD:15758 Mosaic variegated aneuploidy syndrome 2 False False False -GARD:15759 Hydrolethalus syndrome 2 False False False -GARD:15760 Perrault syndrome 3 False False False -GARD:15761 Focal segmental glomerulosclerosis 6 False False False -GARD:15762 Nail disorder, nonsyndromic congenital, 9 False False False -GARD:15763 Paragangliomas 5 False False False -GARD:15764 Brittle cornea syndrome 2 False False False -GARD:15765 Joubert syndrome 13 False False False -GARD:15766 Retinitis pigmentosa 61 False False False -GARD:15767 Retinitis pigmentosa 62 False False False -GARD:15768 Geleophysic dysplasia 2 False False False -GARD:15769 Pigmented nodular adrenocortical disease, primary, 3 False False False -GARD:15770 Nephrotic syndrome, type 6 False False False -GARD:15771 Myasthenic syndrome, congenital, 16 False False False -GARD:15772 Three m syndrome 3 False False False -GARD:15773 Meckel syndrome, type 9 False False False -GARD:15774 Neuropathy, hereditary sensory, type iic False False False -GARD:15775 Adams-oliver syndrome 2 False False False -GARD:15776 Biliary cirrhosis, primary, 4 False False False -GARD:15777 Biliary cirrhosis, primary, 5 False False False -GARD:15778 Warburg micro syndrome 3 False False False -GARD:15779 Narcolepsy 6, susceptibility to False False False -GARD:1578 Craniofrontonasal dysplasia False False False -GARD:15780 Warburg micro syndrome 2 False False False -GARD:15781 Hypotrichosis 9 False False False -GARD:15782 Hypotrichosis 10 False False False -GARD:15783 Narcolepsy 7 False False False -GARD:15784 Epilepsy, juvenile myoclonic, susceptibility to, 9 False False False -GARD:15785 Breast-ovarian cancer, familial, susceptibility to, 4 False False False -GARD:15786 Sclerosteosis 2 False False False -GARD:15787 Alpha-methylacyl-coa racemase deficiency False False False -GARD:15788 Pancreatic cancer, susceptibility to, 4 False False False -GARD:15789 Colorectal cancer, hereditary nonpolyposis, type 6 False False False -GARD:15790 Arthrogryposis, distal, type 1b False False False -GARD:15791 Colorectal cancer, hereditary nonpolyposis, type 4 False False False -GARD:15792 Colorectal cancer, hereditary nonpolyposis, type 5 False False False -GARD:15793 Surfactant metabolism dysfunction, pulmonary, 5 False False False -GARD:15794 Amyotrophic lateral sclerosis 16, juvenile False False False -GARD:15795 Short-rib thoracic dysplasia 5 with or without polydactyly False False False -GARD:15796 Cranioectodermal dysplasia 4 False False False -GARD:15797 Complement component 4b deficiency False False False -GARD:15798 Complement component 4a deficiency False False False -GARD:15799 Colorectal cancer, hereditary nonpolyposis, type 7 False False False -GARD:158 Sarcosinemia False False False -GARD:15800 Cataract 37 False False False -GARD:15801 Joubert syndrome 14 False False False -GARD:15802 Cutis laxa, autosomal dominant 2 False False False -GARD:15803 Hypoplastic left heart syndrome 2 False False False -GARD:15804 Cutis laxa, autosomal recessive, type ib False False False -GARD:15805 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 False False False -GARD:15806 Joubert syndrome 15 False False False -GARD:15807 Joubert syndrome 16 False False False -GARD:15808 Brain small vessel disease 2 False False False -GARD:15809 Wiskott-aldrich syndrome 2 False False False -GARD:1581 Craniometaphyseal dysplasia, autosomal dominant False False False -GARD:15810 Retinitis pigmentosa 63 False False False -GARD:15811 Microphthalmia, isolated, with coloboma 7 False False False -GARD:15812 Cone-rod dystrophy 16 False False False -GARD:15813 Usher syndrome, type iiib False False False -GARD:15814 Mirror movements 2 False False False -GARD:15815 Fibrochondrogenesis 2 False False False -GARD:15816 Night blindness, congenital stationary, type 1e False False False -GARD:15817 Baraitser-winter syndrome 2 False False False -GARD:15818 Olmsted syndrome 1 False False False -GARD:15819 Trichohepatoenteric syndrome 2 False False False -GARD:1582 Craniometaphyseal dysplasia, autosomal recessive False False False -GARD:15820 Coffin-siris syndrome 2 False False False -GARD:15821 Coffin-siris syndrome 3 False False False -GARD:15822 Coffin-siris syndrome 4 False False False -GARD:15823 Acrodysostosis 2 with or without hormone resistance False False False -GARD:15824 Joubert syndrome 17 False False False -GARD:15825 Hyperekplexia 3 False False False -GARD:15826 Hyperekplexia 2 False False False -GARD:15827 Uv-sensitive syndrome 2 False False False -GARD:15828 Uv-sensitive syndrome 3 False False False -GARD:15829 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 False False False -GARD:1583 Craniomicromelic syndrome False False False -GARD:15830 Cortisone reductase deficiency 2 False False False -GARD:15831 Auriculocondylar syndrome 2 False False False -GARD:15832 Cardiomyopathy, dilated, 2b False False False -GARD:15833 Microcephaly 8, primary, autosomal recessive False False False -GARD:15834 Pontocerebellar hypoplasia, type 1b False False False -GARD:15835 Ciliary dyskinesia, primary, 17 False False False -GARD:15836 Immunodeficiency, common variable, 7 False False False -GARD:15837 Cornelia de lange syndrome 4 with or without midline brain defects False False False -GARD:15838 Porokeratosis 7, multiple types False False False -GARD:15839 Prostate cancer, hereditary, 2 False False False -GARD:15840 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency False False False -GARD:15841 Amyotrophic lateral sclerosis 18 False False False -GARD:15842 Adams-oliver syndrome 3 False False False -GARD:15843 Joubert syndrome 18 False False False -GARD:15844 Weill-marchesani syndrome 3 False False False -GARD:15845 Alternating hemiplegia of childhood 2 False False False -GARD:15846 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 False False False -GARD:15847 Amelogenesis imperfecta, hypomaturation type, iia4 False False False -GARD:15848 Thyrotoxic periodic paralysis, susceptibility to, 3 False False False -GARD:15849 Hypogonadotropic hypogonadism 8 with or without anosmia False False False -GARD:15850 Hypogonadotropic hypogonadism 9 with or without anosmia False False False -GARD:15851 Hypogonadotropic hypogonadism 11 with or without anosmia False False False -GARD:15852 Nephronophthisis 15 False False False -GARD:15853 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 False False False -GARD:15854 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 False False False -GARD:15855 Microcephaly 9, primary, autosomal recessive False False False -GARD:15856 Osteogenesis imperfecta, type xiii False False False -GARD:15857 Hypogonadotropic hypogonadism 14 with or without anosmia False False False -GARD:15858 Peroxisome biogenesis disorder 3a (zellweger) False False False -GARD:15859 Peroxisome biogenesis disorder 4a (zellweger) False False False -GARD:15860 Peroxisome biogenesis disorder 4b False False False -GARD:15861 Peroxisome biogenesis disorder 5a (zellweger) False False False -GARD:15862 Peroxisome biogenesis disorder 5b False False False -GARD:15863 Usher syndrome, type ij False False False -GARD:15864 Peroxisome biogenesis disorder 6a (zellweger) False False False -GARD:15865 Peroxisome biogenesis disorder 6b False False False -GARD:15866 Peroxisome biogenesis disorder 7a (zellweger) False False False -GARD:15867 Peroxisome biogenesis disorder 7b False False False -GARD:15868 Ciliary dyskinesia, primary, 18 False False False -GARD:15869 Peroxisome biogenesis disorder 8a (zellweger) False False False -GARD:15870 Peroxisome biogenesis disorder 8b False False False -GARD:15871 Peroxisome biogenesis disorder 9b False False False -GARD:15872 Hypogonadotropic hypogonadism 15 with or without anosmia False False False -GARD:15873 Peroxisome biogenesis disorder 10a (zellweger) False False False -GARD:15874 Peroxisome biogenesis disorder 11a (zellweger) False False False -GARD:15875 Peroxisome biogenesis disorder 11b False False False -GARD:15876 Peroxisome biogenesis disorder 12a (zellweger) False False False -GARD:15877 Peroxisome biogenesis disorder 13a (zellweger) False False False -GARD:15878 Hypogonadotropic hypogonadism 16 with or without anosmia False False False -GARD:15879 Diamond-blackfan anemia 11 False False False -GARD:15880 Ventricular tachycardia, catecholaminergic polymorphic, 4 False False False -GARD:15881 Peroxisome biogenesis disorder 14b False False False -GARD:15882 Perrault syndrome 2 False False False -GARD:15883 Ciliary dyskinesia, primary, 19 False False False -GARD:15884 Palmoplantar keratoderma, punctate type ib False False False -GARD:15885 Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive False False False -GARD:15886 Developmental and epileptic encephalopathy 14 False False False -GARD:15887 Joubert syndrome 20 False False False -GARD:15888 Cholestasis, intrahepatic, of pregnancy 3 False False False -GARD:15889 Carpenter syndrome 2 False False False -GARD:15890 Usher syndrome, type ik False False False -GARD:15891 Epilepsy, nocturnal frontal lobe, 5 False False False -GARD:15892 Developmental and epileptic encephalopathy 15 False False False -GARD:15893 Basal ganglia calcification, idiopathic, 4 False False False -GARD:15894 Aicardi-goutieres syndrome 6 False False False -GARD:15895 Ichthyosis, congenital, autosomal recessive 7 False False False -GARD:15896 Ichthyosis, congenital, autosomal recessive 9 False False False -GARD:15897 Ichthyosis, congenital, autosomal recessive 10 False False False -GARD:15898 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 False False False -GARD:15899 Night blindness, congenital stationary, type 1f False False False -GARD:159 Scalp-ear-nipple syndrome False False False -GARD:15900 Hypotrichosis 11 False False False -GARD:15901 Osteogenesis imperfecta, type xiv False False False -GARD:15902 Ciliary dyskinesia, primary, 20 False False False -GARD:15903 Brachydactyly, type a1, c False False False -GARD:15904 Spermatogenic failure 11 False False False -GARD:15905 Osteopetrosis, autosomal recessive 8 False False False -GARD:15906 Left ventricular noncompaction 7 False False False -GARD:15907 Urofacial syndrome 2 False False False -GARD:15908 Myasthenic syndrome, congenital, 8 False False False -GARD:15909 Microphthalmia, isolated, with coloboma 9 False False False -GARD:15910 Mitochondrial complex iii deficiency, nuclear type 2 False False False -GARD:15911 Mitochondrial complex iii deficiency, nuclear type 3 False False False -GARD:15912 Mitochondrial complex iii deficiency, nuclear type 4 False False False -GARD:15913 Mitochondrial complex iii deficiency, nuclear type 5 False False False -GARD:15914 Cone-rod dystrophy 17 False False False -GARD:15915 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 False False False -GARD:15916 Cardiomyopathy, dilated, 1ii False False False -GARD:15917 Dyskeratosis congenita, autosomal recessive 5 False False False -GARD:15918 Agammaglobulinemia 7, autosomal recessive False False False -GARD:15919 Osteogenesis imperfecta, type xv False False False -GARD:15920 Bone mineral density quantitative trait locus 16 False False False -GARD:15921 Smith-mccort dysplasia 2 False False False -GARD:15922 Advanced sleep phase syndrome, familial, 2 False False False -GARD:15923 Retinitis pigmentosa 66 False False False -GARD:15924 Cardiomyopathy, dilated, 1jj False False False -GARD:15925 Nephrotic syndrome, type 8 False False False -GARD:15926 Cardiomyopathy, dilated, 1kk False False False -GARD:15927 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 False False False -GARD:15928 Hypogonadotropic hypogonadism 17 with or without anosmia False False False -GARD:15929 Hypogonadotropic hypogonadism 18 with or without anosmia False False False -GARD:15930 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 False False False -GARD:15931 Hypogonadotropic hypogonadism 19 with or without anosmia False False False -GARD:15932 Hypogonadotropic hypogonadism 20 with or without anosmia False False False -GARD:15933 Hypogonadotropic hypogonadism 21 with or without anosmia False False False -GARD:15934 Fanconi anemia, complementation group q False False False -GARD:15935 Cardiofaciocutaneous syndrome 2 False False False -GARD:15936 Cardiofaciocutaneous syndrome 3 False False False -GARD:15937 Cardiofaciocutaneous syndrome 4 False False False -GARD:15938 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 False False False -GARD:15939 Myofibromatosis, infantile, 2 False False False -GARD:15940 Ciliary dyskinesia, primary, 21 False False False -GARD:15941 Adams-oliver syndrome 4 False False False -GARD:15942 Symphalangism, proximal, 1b False False False -GARD:15943 Perrault syndrome 4 False False False -GARD:15944 Dowling-degos disease 2 False False False -GARD:15945 Developmental and epileptic encephalopathy 16 False False False -GARD:15946 Nemaline myopathy 8 False False False -GARD:15947 Ehlers-danlos syndrome, spondylodysplastic type, 2 False False False -GARD:15948 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 False False False -GARD:15949 Noonan syndrome 8 False False False -GARD:15950 Leber congenital amaurosis 17 False False False -GARD:15951 Hypocalcemia, autosomal dominant 2 False False False -GARD:15952 Left ventricular noncompaction 8 False False False -GARD:15953 Cone-rod dystrophy 18 False False False -GARD:15954 Atrial fibrillation, familial, 13 False False False -GARD:15955 Atrial fibrillation, familial, 14 False False False -GARD:15956 Left ventricular noncompaction 10 False False False -GARD:15957 Meckel syndrome, type 11 False False False -GARD:15958 Paroxysmal nocturnal hemoglobinuria 2 False False False -GARD:15959 Dyschromatosis universalis hereditaria 3 False False False -GARD:15960 Spermatogenic failure 12 False False False -GARD:15961 Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive False False False -GARD:15962 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 False False False -GARD:15963 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 False False False -GARD:15964 Amyotrophic lateral sclerosis 20 False False False -GARD:15965 Retinitis pigmentosa 82 with or without situs inversus False False False -GARD:15966 Aortic aneurysm, familial thoracic 8 False False False -GARD:15967 Cardiac arrhythmia syndrome, with or without skeletal muscle weakness False False False -GARD:15968 Ciliary dyskinesia, primary, 22 False False False -GARD:15969 Ciliary dyskinesia, primary, 23 False False False -GARD:15970 Mitochondrial complex iii deficiency, nuclear type 6 False False False -GARD:15971 Ciliary dyskinesia, primary, 24 False False False -GARD:15972 Ciliary dyskinesia, primary, 25 False False False -GARD:15973 Basal ganglia calcification, idiopathic, 5 False False False -GARD:15974 Ciliary dyskinesia, primary, 26 False False False -GARD:15975 Short-rib thoracic dysplasia 8 with or without polydactyly False False False -GARD:15976 Ciliary dyskinesia, primary, 27 False False False -GARD:15977 Ciliary dyskinesia, primary, 28 False False False -GARD:15978 Telangiectasia, hereditary hemorrhagic, type 5 False False False -GARD:15979 Immunodeficiency 14a, autosomal dominant False False False -GARD:15980 Amyotrophic lateral sclerosis 19 False False False -GARD:15981 Candidiasis, familial, 8 False False False -GARD:15982 Ehlers-danlos syndrome, musculocontractural type, 2 False False False -GARD:15983 Periventricular nodular heterotopia 6 False False False -GARD:15984 Van maldergem syndrome 2 False False False -GARD:15985 Diamond-blackfan anemia 12 False False False -GARD:15986 Melioidosis, susceptibility to False False False -GARD:15987 Autoimmune lymphoproliferative syndrome, type iii False False False -GARD:15988 Retinitis pigmentosa 67 False False False -GARD:15989 Nephrotic syndrome, type 9 False False False -GARD:15990 Immunodeficiency, common variable, 10 False False False -GARD:15991 Fanconi renotubular syndrome 3 False False False -GARD:15992 Cholangiocarcinoma, susceptibility to False False False -GARD:15993 Short-rib thoracic dysplasia 10 with or without polydactyly False False False -GARD:15994 Anemia, congenital dyserythropoietic, type ib False False False -GARD:15995 Neuropathy, hereditary sensory, type if False False False -GARD:15996 Short-rib thoracic dysplasia 11 with or without polydactyly False False False -GARD:15997 Joubert syndrome 21 False False False -GARD:15998 Warburg micro syndrome 4 False False False -GARD:15999 Joubert syndrome 22 False False False -GARD:16 Ocular motor apraxia, Cogan type False False False -GARD:160 Satoyoshi syndrome False False False -GARD:16000 Schwannomatosis 2 False False False -GARD:16001 Dowling-degos disease 3 False False False -GARD:16002 Dowling-degos disease 4 False False False -GARD:16003 Auriculocondylar syndrome 3 False False False -GARD:16004 Retinitis pigmentosa 68 False False False -GARD:16005 Pachyonychia congenita 3 False False False -GARD:16006 Pachyonychia congenita 4 False False False -GARD:16007 Nemaline myopathy 9 False False False -GARD:16008 Developmental and epileptic encephalopathy 19 False False False -GARD:16009 Polymicrogyria, bilateral perisylvian, autosomal recessive False False False -GARD:1601 Craniosynostosis, Philadelphia type False False False -GARD:16010 Atrial fibrillation, familial, 15 False False False -GARD:16011 Retinitis pigmentosa 69 False False False -GARD:16012 White sponge nevus 2 False False False -GARD:16013 Seckel syndrome 8 False False False -GARD:16014 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis False False False -GARD:16015 Mitochondrial complex iii deficiency, nuclear type 7 False False False -GARD:16016 Pigmented nodular adrenocortical disease, primary, 4 False False False -GARD:16017 Developmental and epileptic encephalopathy 21 False False False -GARD:16018 Mitochondrial complex iii deficiency, nuclear type 8 False False False -GARD:16019 Spermatogenic failure 13 False False False -GARD:1602 Baller-Gerold syndrome False False False -GARD:16020 Spermatogenic failure 14 False False False -GARD:16021 Aicardi-goutieres syndrome 7 False False False -GARD:16022 Cone-rod dystrophy 19 False False False -GARD:16023 Coffin-siris syndrome 9 False False False -GARD:16024 Developmental and epileptic encephalopathy 24 False False False -GARD:16025 Ciliary dyskinesia, primary, 29 False False False -GARD:16026 Myopathy, tubular aggregate, 2 False False False -GARD:16027 Hypotrichosis 12 False False False -GARD:16028 Amelogenesis imperfecta, hypomaturation type, iia5 False False False -GARD:16029 Hypotrichosis 13 False False False -GARD:16030 Diamond-blackfan anemia 13 False False False -GARD:16031 Cardiomyopathy, dilated, 1nn False False False -GARD:16032 Retinitis pigmentosa 70 False False False -GARD:16033 Pancreatic agenesis 2 False False False -GARD:16034 Acth-independent macronodular adrenal hyperplasia 2 False False False -GARD:16035 Myopathy, centronuclear, 5 False False False -GARD:16036 Cone-rod dystrophy 20 False False False -GARD:16037 Bardet-biedl syndrome 13 False False False -GARD:16038 Bardet-biedl syndrome 14 False False False -GARD:16039 Bardet-biedl syndrome 15 False False False -GARD:16040 Bardet-biedl syndrome 16 False False False -GARD:16041 Bardet-biedl syndrome 17 False False False -GARD:16042 Bardet-biedl syndrome 18 False False False -GARD:16043 Bardet-biedl syndrome 19 False False False -GARD:16044 Breasts and/or nipples, aplasia or hypoplasia of, 2 False False False -GARD:16045 Focal segmental glomerulosclerosis 7 False False False -GARD:16046 Immunodeficiency 36 False False False -GARD:16047 Hennekam lymphangiectasia-lymphedema syndrome 2 False False False -GARD:16048 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young False False False -GARD:16049 Adams-oliver syndrome 5 False False False -GARD:1605 Craniotelencephalic dysplasia False False False -GARD:16050 Hypogonadotropic hypogonadism 22 with or without anosmia False False False -GARD:16051 Focal segmental glomerulosclerosis 8 False False False -GARD:16052 Ciliary dyskinesia, primary, 30 False False False -GARD:16053 Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant False False False -GARD:16054 Microcephaly 13, primary, autosomal recessive False False False -GARD:16055 Mirror movements 3 False False False -GARD:16056 Porokeratosis 8, disseminated superficial actinic type False False False -GARD:16057 Microcephaly 12, primary, autosomal recessive False False False -GARD:16058 Pontocerebellar hypoplasia, type 1c False False False -GARD:16059 Psoriasis 15, pustular, susceptibility to False False False -GARD:16060 Mitochondrial complex iii deficiency, nuclear type 9 False False False -GARD:16061 Familial cold autoinflammatory syndrome 4 False False False -GARD:16062 Perrault syndrome 5 False False False -GARD:16063 Developmental and epileptic encephalopathy 27 False False False -GARD:16064 Macular dystrophy, vitelliform, 4 False False False -GARD:16065 Macular dystrophy, vitelliform, 5 False False False -GARD:16066 Nemaline myopathy 10 False False False -GARD:16067 Aortic aneurysm, familial thoracic 9 False False False -GARD:16068 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia False False False -GARD:16069 Developmental and epileptic encephalopathy 28 False False False -GARD:16070 Focal segmental glomerulosclerosis 9 False False False -GARD:16071 Amelogenesis imperfecta, type ih False False False -GARD:16072 Osteogenesis imperfecta, type xvi False False False -GARD:16073 Long qt syndrome 14 False False False -GARD:16074 Long qt syndrome 15 False False False -GARD:16075 Congenital limbs-face contractures-hypotonia-developmental delay syndrome False False False -GARD:16076 Amelogenesis imperfecta, type if False False False -GARD:16077 Cole-carpenter syndrome 2 False False False -GARD:16078 Singleton-merten syndrome 2 False False False -GARD:16079 Short-rib thoracic dysplasia 13 with or without polydactyly False False False -GARD:1608 X-linked creatine transporter deficiency False False False -GARD:16080 Myasthenic syndrome, congenital, 17 False False False -GARD:16081 Senior-loken syndrome 8 False False False -GARD:16082 Intellectual developmental disorder, autosomal dominant 33 False False False -GARD:16083 Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency False False False -GARD:16084 Myasthenic syndrome, congenital, 3a, slow-channel False False False -GARD:16085 Myasthenic syndrome, congenital, 3b, fast-channel False False False -GARD:16086 Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency False False False -GARD:16087 Myasthenic syndrome, congenital, 4b, fast-channel False False False -GARD:16088 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency False False False -GARD:16089 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency False False False -GARD:1609 Creeping myiasis False False False -GARD:16090 Maturity-onset diabetes of the young, type 13 False False False -GARD:16091 Myasthenic syndrome, congenital, 18 False False False -GARD:16092 Developmental and epileptic encephalopathy 29 False False False -GARD:16093 Developmental and epileptic encephalopathy 30 False False False -GARD:16094 Developmental and epileptic encephalopathy 31 False False False -GARD:16095 Dyskeratosis congenita, autosomal recessive 6 False False False -GARD:16096 Developmental and epileptic encephalopathy 32 False False False -GARD:16097 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 False False False -GARD:16098 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 False False False -GARD:16099 Night blindness, congenital stationary, type 1g False False False -GARD:16100 Trichothiodystrophy 2, photosensitive False False False -GARD:16101 Retinitis pigmentosa 71 False False False -GARD:16102 Trichothiodystrophy 3, photosensitive False False False -GARD:16103 Dystonia 26, myoclonic False False False -GARD:16104 Brugada syndrome 9 False False False -GARD:16105 Microcephaly 14, primary, autosomal recessive False False False -GARD:16106 Developmental and epileptic encephalopathy 33 False False False -GARD:16107 Basal ganglia calcification, idiopathic, 6 False False False -GARD:16108 Myoclonic-atonic epilepsy False False False -GARD:16109 46,xy sex reversal 10 False False False -GARD:1611 Crisponi syndrome False False False -GARD:16110 Microphthalmia, isolated, with coloboma 10 False False False -GARD:16111 Fanconi anemia, complementation group t False False False -GARD:16112 Epilepsy, familial temporal lobe, 7 False False False -GARD:16113 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 False False False -GARD:16114 Candidiasis, familial, 9 False False False -GARD:16115 Zimmermann-laband syndrome 2 False False False -GARD:16116 Epilepsy, familial temporal lobe, 8 False False False -GARD:16117 Acrofacial dysostosis, cincinnati type False False False -GARD:16118 Exudative vitreoretinopathy 6 False False False -GARD:16119 Retinitis pigmentosa 72 False False False -GARD:16120 Ullrich congenital muscular dystrophy 2 False False False -GARD:16121 Bethlem myopathy 2 False False False -GARD:16122 Ciliary dyskinesia, primary, 32 False False False -GARD:16123 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities False False False -GARD:16124 Joubert syndrome 23 False False False -GARD:16125 Cone-rod dystrophy 21 False False False -GARD:16126 Osteogenesis imperfecta, type xvii False False False -GARD:16127 Cataract 44 False False False -GARD:16128 Maturity-onset diabetes of the young, type 14 False False False -GARD:16129 Achromatopsia 7 False False False -GARD:1613 Familial exudative vitreoretinopathy False False False -GARD:16130 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities False False False -GARD:16131 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 False False False -GARD:16132 Thyroid cancer, nonmedullary, 4 False False False -GARD:16133 Thyroid cancer, nonmedullary, 5 False False False -GARD:16134 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 False False False -GARD:16135 Retinitis pigmentosa 73 False False False -GARD:16136 Dyskeratosis congenita, autosomal dominant 6 False False False -GARD:16137 Noonan syndrome 9 False False False -GARD:16138 Retinitis pigmentosa 74 False False False -GARD:16139 Noonan syndrome 10 False False False -GARD:1614 Cataract-nephropathy-encephalopathy syndrome False False False -GARD:16140 Cerebrooculofacioskeletal syndrome 3 False False False -GARD:16141 Immunodeficiency, common variable, 12, with autoimmunity False False False -GARD:16142 Adams-oliver syndrome 6 False False False -GARD:16143 Cutis laxa, autosomal dominant 3 False False False -GARD:16144 Heimler syndrome 2 False False False -GARD:16145 Senior-loken syndrome 9 False False False -GARD:16146 Porokeratosis 9, multiple types False False False -GARD:16147 Developmental and epileptic encephalopathy 34 False False False -GARD:16148 Optic atrophy 8 False False False -GARD:16149 Spherocytosis, type 2 False False False -GARD:16150 Joubert syndrome 24 False False False -GARD:16151 Microcephaly 16, primary, autosomal recessive False False False -GARD:16152 Dehydrated hereditary stomatocytosis 2 False False False -GARD:16153 Myasthenic syndrome, congenital, 19 False False False -GARD:16154 Ciliary dyskinesia, primary, 33 False False False -GARD:16155 Nephrotic syndrome, type 11 False False False -GARD:16156 Skin creases, congenital symmetric circumferential, 2 False False False -GARD:16157 Woolly hair, autosomal recessive 3 False False False -GARD:16158 Seckel syndrome 9 False False False -GARD:16159 Joubert syndrome 25 False False False -GARD:16160 Joubert syndrome 26 False False False -GARD:16161 Neuroblastoma, susceptibility to, 7 False False False -GARD:16162 Wilms tumor 6 False False False -GARD:16163 Meier-gorlin syndrome 6 False False False -GARD:16164 Brachydactyly, type a1, d False False False -GARD:16165 Advanced sleep phase syndrome, familial, 3 False False False -GARD:16166 Nephrotic syndrome, type 12 False False False -GARD:16167 Nephrotic syndrome, type 13 False False False -GARD:16168 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 False False False -GARD:16169 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 False False False -GARD:1617 Crossed polysyndactyly False False False -GARD:16170 Coffin-siris syndrome 5 False False False -GARD:16171 Agammaglobulinemia 8a, autosomal dominant False False False -GARD:16172 Trichothiodystrophy 6, nonphotosensitive False False False -GARD:16173 Spermatogenic failure 15 False False False -GARD:16174 Polycystic liver disease 2 with or without kidney cysts False False False -GARD:16175 Developmental and epileptic encephalopathy 38 False False False -GARD:16176 Retinitis pigmentosa 75 False False False -GARD:16177 Night blindness, congenital stationary, type 1h False False False -GARD:16178 Pontocerebellar hypoplasia, type 2f False False False -GARD:16180 Hermansky-pudlak syndrome 10 False False False -GARD:16181 Meier-gorlin syndrome 7 False False False -GARD:16182 Developmental and epileptic encephalopathy 40 False False False -GARD:16183 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 False False False -GARD:16184 Nasopharyngeal carcinoma, susceptibility to, 3 False False False -GARD:16185 Short-rib thoracic dysplasia 15 with polydactyly False False False -GARD:16186 Microcephaly 17, primary, autosomal recessive False False False -GARD:16187 Ciliary dyskinesia, primary, 34 False False False -GARD:16188 Ciliary dyskinesia, primary, 35 False False False -GARD:16189 Short-rib thoracic dysplasia 16 with or without polydactyly False False False -GARD:16190 Developmental and epileptic encephalopathy 41 False False False -GARD:16191 Developmental and epileptic encephalopathy 42 False False False -GARD:16192 Developmental and epileptic encephalopathy 43 False False False -GARD:16193 Bardet-biedl syndrome 22 False False False -GARD:16194 Joubert syndrome 27 False False False -GARD:16195 Joubert syndrome 28 False False False -GARD:16196 Retinitis pigmentosa 76 False False False -GARD:16197 Orofaciodigital syndrome xv False False False -GARD:16198 Developmental and epileptic encephalopathy 44 False False False -GARD:16199 Frontometaphyseal dysplasia 2 False False False -GARD:162 Cleft palate-large ears-small head syndrome False False False -GARD:1620 Cryptogenic organizing pneumonia False False False -GARD:16200 Aniridia 2 False False False -GARD:16201 Aniridia 3 False False False -GARD:16202 Myasthenic syndrome, congenital, 20, presynaptic False False False -GARD:16203 Developmental and epileptic encephalopathy 45 False False False -GARD:16204 Myopathy, distal, with rimmed vacuoles False False False -GARD:16205 Developmental and epileptic encephalopathy 46 False False False -GARD:16206 Developmental and epileptic encephalopathy 47 False False False -GARD:16207 Aortic aneurysm, familial thoracic 10 False False False -GARD:16208 Intellectual developmental disorder, autosomal recessive 74 False False False -GARD:16209 Ehlers-danlos syndrome, periodontal type, 2 False False False -GARD:16210 Periventricular nodular heterotopia 7 False False False -GARD:16211 Amelogenesis imperfecta, hypomaturation type, iia6 False False False -GARD:16212 Myasthenic syndrome, congenital, 21, presynaptic False False False -GARD:16213 Fanconi anemia, complementation group v False False False -GARD:16214 Fanconi anemia, complementation group r False False False -GARD:16215 Fanconi anemia, complementation group u False False False -GARD:16216 Uncombable hair syndrome 2 False False False -GARD:16217 Uncombable hair syndrome 3 False False False -GARD:16218 Developmental and epileptic encephalopathy 48 False False False -GARD:16219 Atrial fibrillation, familial, 18 False False False -GARD:16220 Amelogenesis imperfecta, type ij False False False -GARD:16221 Retinitis pigmentosa 77 False False False -GARD:16222 Nemaline myopathy 11, autosomal recessive False False False -GARD:16223 Developmental and epileptic encephalopathy 52 False False False -GARD:16224 Developmental and epileptic encephalopathy 53 False False False -GARD:16225 Developmental and epileptic encephalopathy 54 False False False -GARD:16226 Bardet-biedl syndrome 21 False False False -GARD:16227 Diamond-blackfan anemia 16 False False False -GARD:16228 Diamond-blackfan anemia 17 False False False -GARD:16229 Retinitis pigmentosa 78 False False False -GARD:16230 Bleeding disorder, platelet-type, 21 False False False -GARD:16231 Retinitis pigmentosa 79 False False False -GARD:16232 Neurodevelopmental disorder with involuntary movements False False False -GARD:16233 Microcephaly 18, primary, autosomal dominant False False False -GARD:16234 Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development False False False -GARD:16235 Cohen-gibson syndrome False False False -GARD:16236 Meckel syndrome 13 False False False -GARD:16237 Perrault syndrome 6 False False False -GARD:16238 Exudative vitreoretinopathy 7 False False False -GARD:16239 Ciliary dyskinesia, primary, 37 False False False -GARD:16240 Mosaic variegated aneuploidy syndrome 3 False False False -GARD:16241 Developmental and epileptic encephalopathy 55 False False False -GARD:16242 Polycystic kidney disease 5 False False False -GARD:16243 Joubert syndrome 30 False False False -GARD:16244 Blepharocheilodontic syndrome 2 False False False -GARD:16245 Spermatogenic failure 22 False False False -GARD:16246 Spermatogenic failure 23 False False False -GARD:16247 Galloway-mowat syndrome 3 False False False -GARD:16248 Galloway-mowat syndrome 4 False False False -GARD:16249 Galloway-mowat syndrome 5 False False False -GARD:16250 Myopathy, centronuclear, 6, with fiber-type disproportion False False False -GARD:16251 Joubert syndrome 31 False False False -GARD:16252 Retinitis pigmentosa 80 False False False -GARD:16253 Microcephaly 19, primary, autosomal recessive False False False -GARD:16254 Coffin-siris syndrome 6 False False False -GARD:16255 Geleophysic dysplasia 3 False False False -GARD:16256 Ehlers-danlos syndrome, arthrochalasia type, 2 False False False -GARD:16257 Glucocorticoid deficiency 5 False False False -GARD:16258 Developmental and epileptic encephalopathy 92 False False False -GARD:16259 Developmental and epileptic encephalopathy 58 False False False -GARD:1626 Currarino syndrome False False False -GARD:16260 Intellectual developmental disorder, autosomal dominant 55, with seizures False False False -GARD:16261 Developmental delay and seizures with or without movement abnormalities False False False -GARD:16262 Amyotrophic lateral sclerosis 23 False False False -GARD:16263 Li-fraumeni syndrome 2 False False False -GARD:16264 Fanconi anemia, complementation group s False False False -GARD:16265 Amyotrophic lateral sclerosis, susceptibility to, 24 False False False -GARD:16266 Leukodystrophy, hypomyelinating, 14 False False False -GARD:16267 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 False False False -GARD:16268 Microcephaly 20, primary, autosomal recessive False False False -GARD:16269 Epilepsy, juvenile myoclonic, susceptibility to, 10 False False False -GARD:16270 Developmental and epileptic encephalopathy 60 False False False -GARD:16271 Developmental and epileptic encephalopathy 62 False False False -GARD:16272 Shwachman-diamond syndrome 2 False False False -GARD:16273 Elliptocytosis 3 False False False -GARD:16274 Spermatogenic failure 25 False False False -GARD:16275 Rh-null, amorph type False False False -GARD:16276 Methemoglobinemia, beta type False False False -GARD:16277 Methemoglobinemia, alpha type False False False -GARD:16278 Microcephaly 21, primary, autosomal recessive False False False -GARD:16279 Microcephaly 22, primary, autosomal recessive False False False -GARD:16280 Microcephaly 23, primary, autosomal recessive False False False -GARD:16281 Tumoral calcinosis, hyperphosphatemic, familial, 2 False False False -GARD:16282 Tumoral calcinosis, hyperphosphatemic, familial, 3 False False False -GARD:16283 Developmental and epileptic encephalopathy 65 False False False -GARD:16284 Hyperekplexia 4 False False False -GARD:16285 Developmental and epileptic encephalopathy 93 False False False -GARD:16286 Tetraamelia syndrome 2 False False False -GARD:16287 Coffin-siris syndrome 7 False False False -GARD:16288 Ciliary dyskinesia, primary, 38 False False False -GARD:16289 Pontocerebellar hypoplasia, type 1d False False False -GARD:1629 Cutaneous larva migrans False False False -GARD:16290 Spermatogenic failure 28 False False False -GARD:16291 Spermatogenic failure 30 False False False -GARD:16292 Spermatogenic failure 32 False False False -GARD:16293 Polydactyly, postaxial, type a8 False False False -GARD:16294 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8 False False False -GARD:16295 Developmental and epileptic encephalopathy 67 False False False -GARD:16296 Hennekam lymphangiectasia-lymphedema syndrome 3 False False False -GARD:16297 Joubert syndrome 35 False False False -GARD:16298 Retinitis pigmentosa 83 False False False -GARD:16299 Nephrotic syndrome, type 17 False False False -GARD:16300 Nephrotic syndrome, type 18 False False False -GARD:16301 Nephrotic syndrome, type 19 False False False -GARD:16302 Microcephaly 24, primary, autosomal recessive False False False -GARD:16303 Periventricular nodular heterotopia 8 False False False -GARD:16304 Hyperparathyroidism, transient neonatal False False False -GARD:16305 Cardiomyopathy, dilated, 2c False False False -GARD:16306 Intellectual developmental disorder and retinitis pigmentosa False False False -GARD:16307 Capillary malformation-arteriovenous malformation 2 False False False -GARD:16308 Myasthenic syndrome, congenital, 23, presynaptic False False False -GARD:16309 Myasthenic syndrome, congenital, 24, presynaptic False False False -GARD:16310 Developmental and epileptic encephalopathy 68 False False False -GARD:16311 Retinitis pigmentosa 84 False False False -GARD:16312 Mitochondrial complex i deficiency, nuclear type 2 False False False -GARD:16313 Mitochondrial complex i deficiency, nuclear type 3 False False False -GARD:16314 Mitochondrial complex i deficiency, nuclear type 4 False False False -GARD:16315 Mitochondrial complex i deficiency, nuclear type 5 False False False -GARD:16316 Mitochondrial complex i deficiency, nuclear type 6 False False False -GARD:16317 Mitochondrial complex i deficiency, nuclear type 7 False False False -GARD:16318 Mitochondrial complex i deficiency, nuclear type 8 False False False -GARD:16319 Mitochondrial complex i deficiency, nuclear type 9 False False False -GARD:16320 Mitochondrial complex i deficiency, nuclear type 10 False False False -GARD:16321 Mitochondrial complex i deficiency, nuclear type 11 False False False -GARD:16322 Mitochondrial complex i deficiency, nuclear type 14 False False False -GARD:16323 Mitochondrial complex i deficiency, nuclear type 15 False False False -GARD:16324 Mitochondrial complex i deficiency, nuclear type 16 False False False -GARD:16325 Mitochondrial complex i deficiency, nuclear type 18 False False False -GARD:16326 Mitochondrial complex i deficiency, nuclear type 19 False False False -GARD:16327 Mitochondrial complex i deficiency, nuclear type 21 False False False -GARD:16328 Mitochondrial complex i deficiency, nuclear type 24 False False False -GARD:16329 Mitochondrial complex i deficiency, nuclear type 25 False False False -GARD:1633 Cutaneous photosensitivity-lethal colitis syndrome False False False -GARD:16330 Mitochondrial complex i deficiency, nuclear type 29 False False False -GARD:16331 Mitochondrial complex i deficiency, nuclear type 31 False False False -GARD:16332 Mitochondrial complex i deficiency, nuclear type 33 False False False -GARD:16333 Mirror movements 4 False False False -GARD:16334 Epidermodysplasia verruciformis, susceptibility to, 3 False False False -GARD:16335 Hypotrichosis 14 False False False -GARD:16336 Developmental and epileptic encephalopathy 70 False False False -GARD:16337 Epidermodysplasia verruciformis, susceptibility to, 5 False False False -GARD:16338 Diamond-blackfan anemia 18 False False False -GARD:16339 Diamond-blackfan anemia 19 False False False -GARD:16340 Diamond-blackfan anemia 20 False False False -GARD:16341 Myasthenic syndrome, congenital, 25, presynaptic False False False -GARD:16342 Retinitis pigmentosa 85 False False False -GARD:16343 Galloway-mowat syndrome 6 False False False -GARD:16344 Galloway-mowat syndrome 7 False False False -GARD:16345 Galloway-mowat syndrome 8 False False False -GARD:16346 Microcephaly 25, primary, autosomal recessive False False False -GARD:16347 Coffin-siris syndrome 8 False False False -GARD:16348 Spondyloepimetaphyseal dysplasia with joint laxity, type 3 False False False -GARD:16349 Developmental and epileptic encephalopathy 74 False False False -GARD:16350 Cataract 48 False False False -GARD:16351 Arthrogryposis, distal, type 2b2 False False False -GARD:16352 Developmental and epileptic encephalopathy 75 False False False -GARD:16353 Ciliary dyskinesia, primary, 41 False False False -GARD:16354 Paragangliomas 6 False False False -GARD:16355 Developmental and epileptic encephalopathy 76 False False False -GARD:16356 Paragangliomas 7 False False False -GARD:16357 Noonan syndrome 11 False False False -GARD:16358 Coffin-siris syndrome 10 False False False -GARD:16359 Leber congenital amaurosis 19 False False False -GARD:16360 Immunodeficiency 64 False False False -GARD:16361 Ectodermal dysplasia 15, hypohidrotic/hair type False False False -GARD:16362 Trichothiodystrophy 7, nonphotosensitive False False False -GARD:16363 Multiple congenital anomalies-hypotonia-seizures syndrome 4 False False False -GARD:16364 Night blindness, congenital stationary, type1i False False False -GARD:16365 Developmental and epileptic encephalopathy 78 False False False -GARD:16366 Developmental and epileptic encephalopathy 79 False False False -GARD:16367 Intellectual developmental disorder, autosomal dominant 60, with seizures False False False -GARD:16368 Retinitis pigmentosa 86 False False False -GARD:16369 Noonan syndrome 12 False False False -GARD:16370 Usher syndrome, type 1m False False False -GARD:16371 Zimmermann-laband syndrome 3 False False False -GARD:16372 Sitosterolemia 2 False False False -GARD:16373 Ciliary dyskinesia, primary, 42 False False False -GARD:16374 Retinitis pigmentosa 87 with choroidal involvement False False False -GARD:16375 Neutropenia, severe congenital, 8, autosomal dominant False False False -GARD:16376 Joubert syndrome 36 False False False -GARD:16377 Mitochondrial complex iii deficiency, nuclear type 10 False False False -GARD:16378 Mitochondrial complex i deficiency, nuclear type 34 False False False -GARD:16379 Coffin-siris syndrome 11 False False False -GARD:1638 Autosomal recessive cutis laxa type 2A False False False -GARD:16380 Ciliary dyskinesia, primary, 44 False False False -GARD:16381 Imagawa-matsumoto syndrome False False False -GARD:16382 Juvenile arthritis False False False -GARD:16383 Ciliary dyskinesia, primary, 45 False False False -GARD:16384 Basal ganglia calcification, idiopathic, 8, autosomal recessive False False False -GARD:16385 Retinitis pigmentosa 88 False False False -GARD:16386 Alopecia-intellectual disability syndrome 4 False False False -GARD:16387 Hypogonadotropic hypogonadism 25 with anosmia False False False -GARD:16388 Diabetes mellitus, permanent neonatal, 2 False False False -GARD:16389 Diabetes mellitus, permanent neonatal, 3 False False False -GARD:1639 Autosomal dominant cutis laxa False False False -GARD:16390 Diabetes mellitus, permanent neonatal, 4 False False False -GARD:16391 Developmental and epileptic encephalopathy 86 False False False -GARD:16392 Fanconi renotubular syndrome 5 False False False -GARD:16393 Developmental and epileptic encephalopathy 87 False False False -GARD:16394 Periventricular nodular heterotopia 9 False False False -GARD:16395 Granulomatous disease, chronic, autosomal recessive, 5 False False False -GARD:16396 Treacher collins syndrome 4 False False False -GARD:16397 Oculopharyngodistal myopathy 2 False False False -GARD:16398 Developmental and epileptic encephalopathy 88 False False False -GARD:16399 Optic atrophy 12 False False False -GARD:16400 Immune dysregulation and systemic hyperinflammation syndrome False False False -GARD:16401 Mitochondrial complex i deficiency, nuclear type 35 False False False -GARD:16402 Ifap syndrome 2 False False False -GARD:16403 Coenzyme q10 deficiency, primary, 9 False False False -GARD:16404 Mitochondrial complex iv deficiency, nuclear type 3 False False False -GARD:16405 Mitochondrial complex iv deficiency, nuclear type 4 False False False -GARD:16406 Mitochondrial complex iv deficiency, nuclear type 7 False False False -GARD:16407 Mitochondrial complex iv deficiency, nuclear type 8 False False False -GARD:16408 Mitochondrial complex iv deficiency, nuclear type 10 False False False -GARD:16409 Mitochondrial complex iv deficiency, nuclear type 11 False False False -GARD:1641 Autosomal recessive cutis laxa type 2B False False False -GARD:16410 Mitochondrial complex iv deficiency, nuclear type 12 False False False -GARD:16411 Mitochondrial complex iv deficiency, nuclear type 14 False False False -GARD:16412 Mitochondrial complex iv deficiency, nuclear type 15 False False False -GARD:16413 Mitochondrial complex iv deficiency, nuclear type 16 False False False -GARD:16414 Mitochondrial complex iv deficiency, nuclear type 17 False False False -GARD:16415 Mitochondrial complex iv deficiency, nuclear type 18 False False False -GARD:16416 Mitochondrial complex iv deficiency, nuclear type 19 False False False -GARD:16417 Mitochondrial complex iv deficiency, nuclear type 20 False False False -GARD:16418 Mitochondrial complex iv deficiency, nuclear type 21 False False False -GARD:16419 Noonan syndrome 13 False False False -GARD:16420 Spermatogenic failure 48 False False False -GARD:16421 Arthrogryposis, distal, type 1c False False False -GARD:16422 Coach syndrome 2 False False False -GARD:16423 Coach syndrome 3 False False False -GARD:16424 Developmental and epileptic encephalopathy 89 False False False -GARD:16425 Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia False False False -GARD:16426 Ritscher-schinzel syndrome 3 False False False -GARD:16427 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 False False False -GARD:16428 Nephrotic syndrome, type 22 False False False -GARD:16429 Mitochondrial complex ii deficiency, nuclear type 2 False False False -GARD:1643 Primary cutis verticis gyrata False False False -GARD:16430 Mitochondrial complex ii deficiency, nuclear type 3 False False False -GARD:16431 Mitochondrial complex i deficiency, nuclear type 36 False False False -GARD:16432 Microcephaly 26, primary, autosomal dominant False False False -GARD:16433 Microcephaly 27, primary, autosomal dominant False False False -GARD:16434 Joubert syndrome 37 False False False -GARD:16435 Nephrotic syndrome, type 23 False False False -GARD:16436 Spermatogenic failure 52 False False False -GARD:16437 Olmsted syndrome 2 False False False -GARD:16438 Mitochondrial complex ii deficiency, nuclear type 4 False False False -GARD:16439 Glanzmann thrombasthenia 2 False False False -GARD:16440 Mitochondrial complex i deficiency, nuclear type 37 False False False -GARD:16441 Pontocerebellar hypoplasia, type 1e False False False -GARD:16442 Pontocerebellar hypoplasia, type 1f False False False -GARD:16443 Coffin-siris syndrome 12 False False False -GARD:16444 Bartsocas-papas syndrome 2 False False False -GARD:16445 Developmental and epileptic encephalopathy 96 False False False -GARD:16446 Visceral myopathy 2 False False False -GARD:16447 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 False False False -GARD:16448 Mitochondrial complex iv deficiency, nuclear type 22 False False False -GARD:16449 Cone dystrophy 4 False False False -GARD:16450 Cowden syndrome 1 False False False -GARD:16451 Desbuquois dysplasia 1 False False False -GARD:16452 Xeroderma pigmentosum, complementation group d False False False -GARD:16453 Lymphatic malformation 2 False False False -GARD:16454 Intellectual developmental disorder, autosomal dominant 3 False False False -GARD:16455 Intellectual developmental disorder, autosomal dominant 4 False False False -GARD:16456 Lymphatic malformation 3 False False False -GARD:16457 Ichthyosis, congenital, autosomal recessive 8 False False False -GARD:16458 Intellectual developmental disorder, autosomal dominant 2 False False False -GARD:16459 Nescav syndrome False False False -GARD:1646 Thyrocerebrorenal syndrome False False False -GARD:16460 Intellectual developmental disorder, autosomal dominant 10 False False False -GARD:16461 Chromosome 20q11-q12 deletion syndrome False False False -GARD:16462 Intellectual developmental disorder, autosomal dominant 13 False False False -GARD:16463 Cowden syndrome 4 False False False -GARD:16464 Cowden syndrome 5 False False False -GARD:16465 Cowden syndrome 6 False False False -GARD:16466 Desbuquois dysplasia 2 False False False -GARD:16467 Vulto-van silfhout-de vries syndrome False False False -GARD:16468 Lymphatic malformation 4 False False False -GARD:16469 Intellectual developmental disorder, autosomal dominant 38 False False False -GARD:16470 Cowden syndrome 7 False False False -GARD:16471 Ichthyosis, congenital, autosomal recessive 14 False False False -GARD:16472 Intellectual developmental disorder, autosomal dominant 52 False False False -GARD:16473 Intellectual developmental disorder, autosomal dominant 53 False False False -GARD:16474 Intellectual developmental disorder, autosomal dominant 54 False False False -GARD:16475 Intellectual developmental disorder, autosomal recessive 63 False False False -GARD:16476 Intellectual developmental disorder, autosomal dominant 58 False False False -GARD:16477 Global developmental delay with or without impaired intellectual development False False False -GARD:16478 Intellectual developmental disorder, autosomal dominant 64 False False False -GARD:16479 Mitochondrial DNA-related progressive external ophthalmoplegia False False False -GARD:16480 Sorsby pseudoinflammatory fundus dystrophy False False False -GARD:16481 Methylmalonic aciduria due to transcobalamin receptor defect False False False -GARD:16482 Rieger anomaly False False False -GARD:16483 Infantile liver failure syndrome 3 False False False -GARD:16484 Anterior segment developmental anomaly without extraocular manifestations False False False -GARD:16485 Axenfeld anomaly False False False -GARD:16486 Autosomal dominant progressive external ophthalmoplegia False False False -GARD:16487 C3 glomerulonephritis False False False -GARD:16489 Complement component 3 deficiency False False False -GARD:16490 Primary early-onset glaucoma False False False -GARD:16491 Aortic aneurysm, familial abdominal, 1 False False False -GARD:16492 Aortic aneurysm, familial abdominal, 2 False False False -GARD:16493 Aortic aneurysm, familial abdominal, 3 False False False -GARD:16494 Aortic aneurysm, familial abdominal, 4 False False False -GARD:16495 Fetal akinesia deformation sequence 2 False False False -GARD:16496 Fetal akinesia deformation sequence 3 False False False -GARD:16497 Fetal akinesia deformation sequence 4 False False False -GARD:16498 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 False False False -GARD:16499 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 False False False -GARD:16500 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 False False False -GARD:16501 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 False False False -GARD:16502 Otofaciocervical syndrome 1 False False False -GARD:16503 Otofaciocervical syndrome 2, with t-cell deficiency False False False -GARD:16504 Seizures, benign familial infantile, 2 False False False -GARD:16505 Seizures, benign familial infantile, 4 False False False -GARD:16506 Seizures, benign familial infantile, 5 False False False -GARD:16507 Alzheimer disease 5 False False False -GARD:16508 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology False False False -GARD:16509 Alzheimer disease 6 False False False -GARD:16510 Alzheimer disease 7 False False False -GARD:16511 Alzheimer disease 4 False False False -GARD:16512 Alzheimer disease 8 False False False -GARD:16513 Alzheimer disease 3 False False False -GARD:16514 Alzheimer disease 10 False False False -GARD:16515 Alzheimer disease 11 False False False -GARD:16516 Alzheimer disease 12 False False False -GARD:16517 Alzheimer disease 13 False False False -GARD:16518 Alzheimer disease 14 False False False -GARD:16519 Septooptic dysplasia False False False -GARD:16520 Pituitary hormone deficiency, combined, 6 False False False -GARD:16521 Seizures, benign familial infantile, 3 False False False -GARD:16522 Citrullinemia False False False -GARD:16523 Glycogen storage disease due to glucose-6-phosphatase deficiency False False False -GARD:16524 Focal facial dermal dysplasia type I False False False -GARD:16526 Crigler-Najjar syndrome False False False -GARD:16527 Ependymal tumor False False False -GARD:16528 Erythrokeratodermia variabilis False False False -GARD:16529 Classic Hodgkin lymphoma False False False -GARD:16530 Primary hyperoxaluria False False False -GARD:16531 Idiopathic/heritable pulmonary arterial hypertension False False False -GARD:16532 Familial hypoaldosteronism False False False -GARD:16533 Normosmic congenital hypogonadotropic hypogonadism False False False -GARD:16534 Non-syndromic anorectal malformation False False False -GARD:16535 Marfan syndrome False False False -GARD:16536 Multiminicore myopathy False False False -GARD:16537 Homocystinuria without methylmalonic aciduria False False False -GARD:16538 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia False False False -GARD:16539 LCAT deficiency False False False -GARD:1654 Familial aortic dissection False False False -GARD:16540 Omphalocele False False False -GARD:16541 Hemolytic anemia due to glucophosphate isomerase deficiency False False False -GARD:16542 Porokeratosis plantaris palmaris et disseminata False False False -GARD:16543 Severe hereditary thrombophilia due to congenital protein S deficiency False False False -GARD:16544 Severe hereditary thrombophilia due to congenital protein C deficiency False False False -GARD:16545 Pseudohypoaldosteronism type 1 False False False -GARD:16546 Central precocious puberty False False False -GARD:16547 Familial long QT syndrome False False False -GARD:16548 Estrogen resistance syndrome False False False -GARD:16549 Encephalopathy due to sulfite oxidase deficiency False False False -GARD:16550 Lown-Ganong-Levine syndrome False False False -GARD:16551 Acro-renal-ocular syndrome False False False -GARD:16552 Testicular regression syndrome False False False -GARD:16553 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome False False False -GARD:16554 Autosomal recessive amelia False False False -GARD:16555 Microlissencephaly False False False -GARD:16556 Sheldon-Hall syndrome False False False -GARD:16557 Congenital unilateral hypoplasia of depressor anguli oris False False False -GARD:16558 X-linked progressive cerebellar ataxia False False False -GARD:16559 Ataxia-tapetoretinal degeneration syndrome False False False -GARD:16560 Spastic ataxia with congenital miosis False False False -GARD:16561 TMEM70-related mitochondrial encephalo-cardio-myopathy False False False -GARD:16562 Brachytelephalangy-dysmorphism-Kallmann syndrome False False False -GARD:16563 Hyperkeratosis-hyperpigmentation syndrome False False False -GARD:16564 Atrial standstill False False False -GARD:16565 Chondrodysplasia-disorder of sex development syndrome False False False -GARD:16566 Atrial septal defect-atrioventricular conduction defects syndrome False False False -GARD:16567 Cooper-Jabs syndrome False False False -GARD:16568 Autosomal recessive Robinow syndrome False False False -GARD:16569 Fatal infantile cytochrome C oxidase deficiency False False False -GARD:16570 Monosomy 13q14 False False False -GARD:16571 Distal monosomy 13q False False False -GARD:16572 Distal monosomy 15q False False False -GARD:16573 3q13 microdeletion syndrome False False False -GARD:16574 Partial chromosome Y deletion False False False -GARD:16575 Dentin dysplasia False False False -GARD:16576 Chronic diarrhea with villous atrophy False False False -GARD:16577 Arterial dissection-lentiginosis syndrome False False False -GARD:16578 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome False False False -GARD:16579 Renal agenesis, bilateral False False False -GARD:16580 Diabetic embryopathy False False False -GARD:16581 Early myoclonic encephalopathy False False False -GARD:16582 Hereditary gingival fibromatosis False False False -GARD:16583 Juvenile hyaline fibromatosis False False False -GARD:16584 X-linked intellectual disability-epilepsy syndrome False False False -GARD:16585 46,XX ovotesticular disorder of sex development False False False -GARD:16586 Nodular neuronal heterotopia False False False -GARD:16587 Idiopathic hypercalciuria False False False -GARD:16588 Primary hypergonadotropic hypogonadism-partial alopecia syndrome False False False -GARD:16589 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland False False False -GARD:16590 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome False False False -GARD:16591 Primary pulmonary hypoplasia False False False -GARD:16592 Congenital short bowel syndrome False False False -GARD:16593 Absence deformity of leg-cataract syndrome False False False -GARD:16594 Kenny-Caffey syndrome False False False -GARD:16595 Larsen-like osseous dysplasia-short stature syndrome False False False -GARD:16596 Congenital laryngeal web False False False -GARD:16597 Laryngeal abductor paralysis-intellectual disability syndrome False False False -GARD:16598 Macrocephaly-spastic paraplegia-dysmorphism syndrome False False False -GARD:16599 Congenital macroglossia False False False -GARD:166 Schizencephaly False False False -GARD:16600 Mucocutaneous venous malformations False False False -GARD:16601 Megalencephaly False False False -GARD:16602 Upper limb defect-eye and ear abnormalities syndrome False False False -GARD:16603 Autosomal recessive chorioretinopathy-microcephaly syndrome False False False -GARD:16604 Hypomyelination neuropathy-arthrogryposis syndrome False False False -GARD:16605 Adult idiopathic neutropenia False False False -GARD:16606 Oculo-palato-cerebral syndrome False False False -GARD:16607 Oculotrichodysplasia False False False -GARD:16608 Omodysplasia False False False -GARD:16609 Familial recurrent peripheral facial palsy False False False -GARD:16610 Young-onset Parkinson disease False False False -GARD:16611 Pelvis-shoulder dysplasia False False False -GARD:16612 Short stature-valvular heart disease-characteristic facies syndrome False False False -GARD:16613 Phosphoenolpyruvate carboxykinase deficiency False False False -GARD:16614 Postaxial polydactyly-dental and vertebral anomalies syndrome False False False -GARD:16615 Absent thumb-short stature-immunodeficiency syndrome False False False -GARD:16616 Leukocyte adhesion deficiency False False False -GARD:16617 46,XX disorder of sex development-skeletal anomalies syndrome False False False -GARD:16618 Blepharophimosis-intellectual disability syndrome, SBBYS type False False False -GARD:16619 Fixed subaortic stenosis False False False -GARD:16620 Autosomal dominant Robinow syndrome False False False -GARD:16621 Alpha-N-acetylgalactosaminidase deficiency False False False -GARD:16622 X-linked spasticity-intellectual disability-epilepsy syndrome False False False -GARD:16623 Congenital pulmonary valvar stenosis False False False -GARD:16624 Deafness-onychodystrophy syndrome False False False -GARD:16625 Idiopathic hypereosinophilic syndrome False False False -GARD:16626 Non-syndromic metopic craniosynostosis False False False -GARD:16627 Truncus arteriosus False False False -GARD:16628 Hereditary xanthinuria False False False -GARD:16629 Hereditary central diabetes insipidus False False False -GARD:16630 Neuroectodermal melanolysosomal disease False False False -GARD:16631 Glutamate-cysteine ligase deficiency False False False -GARD:16632 T-B+ severe combined immunodeficiency due to JAK3 deficiency False False False -GARD:16633 Non-syndromic sagittal craniosynostosis False False False -GARD:16634 Non-syndromic bicoronal craniosynostosis False False False -GARD:16635 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency False False False -GARD:16636 Lysosomal acid phosphatase deficiency False False False -GARD:16637 Nanophthalmos False False False -GARD:16638 ALDH18A1-related De Barsy syndrome False False False -GARD:16639 Combined deficiency of factor V and factor VIII False False False -GARD:16640 Distal monosomy 1q False False False -GARD:16641 Episodic ataxia type 1 False False False -GARD:16642 Graft versus host disease False False False -GARD:16643 Hereditary myopathy with lactic acidosis due to ISCU deficiency False False False -GARD:16644 Proximal renal tubular acidosis False False False -GARD:16645 Congenital cataracts-facial dysmorphism-neuropathy syndrome False False False -GARD:16646 Lipodystrophy-intellectual disability-deafness syndrome False False False -GARD:16647 Craniolenticulosutural dysplasia False False False -GARD:16648 Branchiogenic deafness syndrome False False False -GARD:16649 Schöpf-Schulz-Passarge syndrome False False False -GARD:16650 Familial short QT syndrome False False False -GARD:16651 Torsade-de-pointes syndrome with short coupling interval False False False -GARD:16652 Braddock syndrome False False False -GARD:16653 Craniosynostosis-intracranial calcifications syndrome False False False -GARD:16654 Ulnar/fibula ray defect-brachydactyly syndrome False False False -GARD:16655 Retinitis punctata albescens False False False -GARD:16656 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity False False False -GARD:16657 Congenital cornea plana False False False -GARD:16658 Arthrogryposis-anterior horn cell disease syndrome False False False -GARD:16659 Thrombotic thrombocytopenic purpura False False False -GARD:1666 Hydrocephaly-tall stature-joint laxity syndrome False False False -GARD:16660 Adamantinoma False False False -GARD:16661 Schilder disease False False False -GARD:16662 Enlarged parietal foramina False False False -GARD:16663 Pulmonary nodular lymphoid hyperplasia False False False -GARD:16664 Idiopathic bronchiectasis False False False -GARD:16665 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis False False False -GARD:16666 Distal myopathy with posterior leg and anterior hand involvement False False False -GARD:16667 Childhood absence epilepsy False False False -GARD:16668 Ovarian hyperstimulation syndrome False False False -GARD:16669 Beta-ureidopropionase deficiency False False False -GARD:16670 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome False False False -GARD:16671 Isolated focal cortical dysplasia False False False -GARD:16672 Arthrogryposis-severe scoliosis syndrome False False False -GARD:16673 Congenital pseudoarthrosis of the clavicle False False False -GARD:16674 Diaphanospondylodysostosis False False False -GARD:16675 Hyaluronidase deficiency False False False -GARD:16676 Thrombocytopenia with congenital dyserythropoietic anemia False False False -GARD:16677 X-linked intellectual disability with isolated growth hormone deficiency False False False -GARD:16678 Idiopathic steroid-sensitive nephrotic syndrome False False False -GARD:16679 Odonto-tricho-ungual-digito-palmar syndrome False False False -GARD:16680 Pure hair and nail ectodermal dysplasia False False False -GARD:16681 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome False False False -GARD:16682 Anonychia with flexural pigmentation False False False -GARD:16683 Low phospholipid-associated cholelithiasis False False False -GARD:16684 Bosley-Salih-Alorainy syndrome False False False -GARD:16685 Leigh syndrome with cardiomyopathy False False False -GARD:16686 Split hand-split foot-deafness syndrome False False False -GARD:16687 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome False False False -GARD:16688 Familial thrombocytosis False False False -GARD:16689 Obesity due to prohormone convertase I deficiency False False False -GARD:1669 Dandy-Walker malformation-postaxial polydactyly syndrome False False False -GARD:16690 Obesity due to melanocortin 4 receptor deficiency False False False -GARD:16691 Bleeding diathesis due to a collagen receptor defect False False False -GARD:16692 Familial isolated restrictive cardiomyopathy False False False -GARD:16693 Retinal arterial tortuosity False False False -GARD:16694 Cystoid macular dystrophy False False False -GARD:16695 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency False False False -GARD:16696 Juvenile polyposis of infancy False False False -GARD:16697 Grange syndrome False False False -GARD:16698 Eiken syndrome False False False -GARD:16699 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome False False False -GARD:16700 Lymphoid interstitial pneumonia False False False -GARD:16701 DEND syndrome False False False -GARD:16702 Episodic ataxia type 3 False False False -GARD:16703 Episodic ataxia type 4 False False False -GARD:16704 Generalized epilepsy-paroxysmal dyskinesia syndrome False False False -GARD:16705 Hereditary painful callosities False False False -GARD:16706 Familial progressive hyperpigmentation False False False -GARD:16707 Acrokeratosis verruciformis of Hopf False False False -GARD:16708 2-aminoadipic 2-oxoadipic aciduria False False False -GARD:16709 Seizures-intellectual disability due to hydroxylysinuria syndrome False False False -GARD:1671 Multinodular goiter-cystic kidney-polydactyly syndrome False False False -GARD:16710 Hypoxanthine guanine phosphoribosyltransferase partial deficiency False False False -GARD:16711 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency False False False -GARD:16712 Pyruvate dehydrogenase E2 deficiency False False False -GARD:16713 Congenital bile acid synthesis defect type 3 False False False -GARD:16714 Vitamin B12-unresponsive methylmalonic acidemia type mut- False False False -GARD:16715 Chondrodysplasia punctata, tibial-metacarpal type False False False -GARD:16716 Chondrodysplasia punctata, Toriello type False False False -GARD:16717 3-phosphoserine phosphatase deficiency, infantile/juvenile form False False False -GARD:16718 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form False False False -GARD:16719 Keratoderma hereditarium mutilans with ichthyosis False False False -GARD:16720 Recessive dystrophic epidermolysis bullosa inversa False False False -GARD:16721 Oculocutaneous albinism type 1A False False False -GARD:16722 Oculocutaneous albinism type 4 False False False -GARD:16723 Maculopapular cutaneous mastocytosis False False False -GARD:16724 Cholesterol-ester transfer protein deficiency False False False -GARD:16725 Hypotonia-failure to thrive-microcephaly syndrome False False False -GARD:16726 Autosomal recessive hyperinsulinism due to SUR1 deficiency False False False -GARD:16727 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency False False False -GARD:16728 Glomuvenous malformation False False False -GARD:16729 Enteric anendocrinosis False False False -GARD:16730 Senior-Boichis syndrome False False False -GARD:16731 Hereditary thermosensitive neuropathy False False False -GARD:16732 Desmin-related myopathy with Mallory body-like inclusions False False False -GARD:16733 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome False False False -GARD:16734 Bothnia retinal dystrophy False False False -GARD:16735 Familial digital arthropathy-brachydactyly False False False -GARD:16736 Microcephalic osteodysplastic dysplasia, Saul-Wilson type False False False -GARD:16737 Craniometadiaphyseal dysplasia, wormian bone type False False False -GARD:16738 Metaphyseal dysplasia, Braun-Tinschert type False False False -GARD:16739 Calvarial doughnut lesions-bone fragility syndrome False False False -GARD:16740 Spondylo-ocular syndrome False False False -GARD:16741 Genochondromatosis type 1 False False False -GARD:16742 X-linked intellectual disability, Armfield type False False False -GARD:16743 X-linked intellectual disability, Cantagrel type False False False -GARD:16744 KDM5C-related syndromic X-linked intellectual disability False False False -GARD:16745 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome False False False -GARD:16746 BRESEK syndrome False False False -GARD:16747 X-linked intellectual disability, Wilson type False False False -GARD:16748 X-linked epilepsy-learning disabilities-behavior disorders syndrome False False False -GARD:16749 HSD10 disease, atypical type False False False -GARD:16750 Deafness-intellectual disability syndrome, Martin-Probst type False False False -GARD:16751 X-linked intellectual disability, Shrimpton type False False False -GARD:16752 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome False False False -GARD:16753 Fried syndrome False False False -GARD:16754 ATTRV30M amyloidosis False False False -GARD:16755 ATTRV122I amyloidosis False False False -GARD:16756 X-linked reticulate pigmentary disorder False False False -GARD:16757 Helicoid peripapillary chorioretinal degeneration False False False -GARD:16758 Benign adult familial myoclonic epilepsy False False False -GARD:16759 Aplasia of lacrimal and salivary glands False False False -GARD:16760 Hemolytic anemia due to adenylate kinase deficiency False False False -GARD:16761 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome False False False -GARD:16762 Atrichia with papular lesions False False False -GARD:16763 Lissencephaly type 3-metacarpal bone dysplasia syndrome False False False -GARD:16764 Chronic myeloproliferative disease, unclassifiable False False False -GARD:16765 Interdigitating dendritic cell sarcoma False False False -GARD:16766 Keratosis palmaris et plantaris-clinodactyly syndrome False False False -GARD:16767 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type False False False -GARD:16768 Tritanopia False False False -GARD:16769 Terminal osseous dysplasia-pigmentary defects syndrome False False False -GARD:16770 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates False False False -GARD:16771 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome False False False -GARD:16772 Autosomal dominant progressive nephropathy with hypertension False False False -GARD:16773 Hepatocellular carcinoma False False False -GARD:16774 X-linked Alport syndrome False False False -GARD:16775 Pseudohypoaldosteronism type 2A False False False -GARD:16776 Pseudohypoaldosteronism type 2B False False False -GARD:16777 Pseudohypoaldosteronism type 2C False False False -GARD:16778 Autosomal recessive generalized epidermolysis bullosa simplex False False False -GARD:16779 Dystrophic epidermolysis bullosa pruriginosa False False False -GARD:16780 Lissencephaly syndrome, Norman-Roberts type False False False -GARD:16781 Autosomal dominant hypophosphatemic rickets False False False -GARD:16782 X-linked cone dysfunction syndrome with myopia False False False -GARD:16783 Primary immunodeficiency syndrome due to LAMTOR2 deficiency False False False -GARD:16784 Hemolytic anemia due to glutathione reductase deficiency False False False -GARD:16785 Familial pseudohyperkalemia False False False -GARD:16786 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome False False False -GARD:16787 Hereditary motor and sensory neuropathy type 6 False False False -GARD:16788 Klippel-Trénaunay syndrome False False False -GARD:16789 Hypotrichosis simplex of the scalp False False False -GARD:16790 X-linked non-syndromic sensorineural deafness type DFN False False False -GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA False False False -GARD:16792 Mitochondrial non-syndromic sensorineural deafness False False False -GARD:16793 Hypothyroidism due to TSH receptor mutations False False False -GARD:16794 46,XY disorder of sex development due to isolated 17,20-lyase deficiency False False False -GARD:16795 Cardiomyopathy-hypotonia-lactic acidosis syndrome False False False -GARD:16796 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency False False False -GARD:16797 Isolated cryptophthalmia False False False -GARD:16798 Congenital ptosis False False False -GARD:16799 Isolated congenital alacrima False False False -GARD:1680 Symbrachydactyly of hands and feet False False False -GARD:16800 Isolated congenital sclerocornea False False False -GARD:16801 Early-onset non-syndromic cataract False False False -GARD:16802 Macular coloboma-cleft palate-hallux valgus syndrome False False False -GARD:16803 Persistent hyperplastic primary vitreous False False False -GARD:16804 Renal agenesis, unilateral False False False -GARD:16805 Hypocalcemic vitamin D-resistant rickets False False False -GARD:16806 Fragile X-associated tremor/ataxia syndrome False False False -GARD:16807 Pfeiffer syndrome type 1 False False False -GARD:16808 Pfeiffer syndrome type 2 False False False -GARD:16809 Pfeiffer syndrome type 3 False False False -GARD:16810 Crouzon syndrome-acanthosis nigricans syndrome False False False -GARD:16811 Cloverleaf skull-multiple congenital anomalies syndrome False False False -GARD:16812 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis False False False -GARD:16813 Spondyloepimetaphyseal dysplasia, PAPSS2 type False False False -GARD:16814 Spondyloepiphyseal dysplasia, Kimberley type False False False -GARD:16815 Hypochondrogenesis False False False -GARD:16816 Brachyolmia, Maroteaux type False False False -GARD:16817 Postaxial polydactyly type A False False False -GARD:16818 Postaxial polydactyly type B False False False -GARD:16819 Spondyloepimetaphyseal dysplasia, Irapa type False False False -GARD:16820 Genochondromatosis type 2 False False False -GARD:16821 Brachydactyly-syndactyly, Zhao type False False False -GARD:16822 Ciliopathies with major skeletal involvement False False False -GARD:16823 Atypical hemolytic uremic syndrome with anti-factor H antibodies False False False -GARD:16824 Late-onset nephronophthisis False False False -GARD:16825 Infantile nephronophthisis False False False -GARD:16826 Autosomal recessive proximal renal tubular acidosis False False False -GARD:16827 Cystinuria type A False False False -GARD:16828 Cystinuria type B False False False -GARD:16829 Hemoglobin H disease False False False -GARD:16830 Lobar holoprosencephaly False False False -GARD:16831 Alobar holoprosencephaly False False False -GARD:16832 Midline interhemispheric variant of holoprosencephaly False False False -GARD:16833 Laryngotracheoesophageal cleft type 3 False False False -GARD:16834 X-linked intellectual disability, Hedera type False False False -GARD:16835 Anotia False False False -GARD:16836 Cerebellar ataxia, Cayman type False False False -GARD:16837 Anonychia congenita totalis False False False -GARD:16838 Lissencephaly due to LIS1 mutation False False False -GARD:16839 Familial adrenal hypoplasia with absent pituitary luteinizing hormone False False False -GARD:1684 Deafness-ear malformation-facial palsy syndrome False False False -GARD:16840 Non-syndromic posterior hypospadias False False False -GARD:16841 Thyroid ectopia False False False -GARD:16842 Athyreosis False False False -GARD:16843 Familial thyroid dyshormonogenesis False False False -GARD:16844 Thyroid hemiagenesis False False False -GARD:16845 Distal monosomy 6p False False False -GARD:16846 Kleefstra syndrome due to 9q34 microdeletion False False False -GARD:16847 Monosomy 13q34 False False False -GARD:16848 Temple syndrome due to maternal uniparental disomy of chromosome 14 False False False -GARD:16849 Maternal uniparental disomy of chromosome 20 False False False -GARD:1685 DOORS syndrome False False False -GARD:16850 Somatotropic adenoma False False False -GARD:16851 Leydig cell hypoplasia due to complete LH resistance False False False -GARD:16852 Leydig cell hypoplasia due to partial LH resistance False False False -GARD:16853 Familial papillary thyroid carcinoma with renal papillary neoplasia False False False -GARD:16854 Renal tubular dysgenesis of genetic origin False False False -GARD:16855 Lymphoproliferative disease associated with primary immune disease False False False -GARD:16856 Hereditary combined deficiency of vitamin K-dependent clotting factors False False False -GARD:16857 Developmental defect of the eye False False False -GARD:16858 Syndromic orbital border hypoplasia False False False -GARD:16859 Rare isolated myopia False False False -GARD:1686 Deafness-craniofacial syndrome False False False -GARD:16860 Autosomal recessive isolated optic atrophy False False False -GARD:16861 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 False False False -GARD:16862 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 False False False -GARD:16863 Acute undifferentiated leukemia False False False -GARD:16864 Desquamative interstitial pneumonia False False False -GARD:16865 Autosomal dominant Emery-Dreifuss muscular dystrophy False False False -GARD:16866 Autosomal recessive Emery-Dreifuss muscular dystrophy False False False -GARD:16867 Southeast Asian ovalocytosis False False False -GARD:16868 Bleeding diathesis due to integrin alpha2-beta1 deficiency False False False -GARD:16869 Congenital myopathy with excess of thin filaments False False False -GARD:1687 Deafness-enamel hypoplasia-nail defects syndrome False False False -GARD:16870 Desminopathy False False False -GARD:16871 Distal myotilinopathy False False False -GARD:16872 Synaptic congenital myasthenic syndromes False False False -GARD:16873 Acute inflammatory demyelinating polyradiculoneuropathy False False False -GARD:16874 Huntington disease-like 2 False False False -GARD:16875 Coloboma of choroid and retina False False False -GARD:16876 Complete cryptophthalmia False False False -GARD:16877 Lisch epithelial corneal dystrophy False False False -GARD:16878 Subepithelial mucinous corneal dystrophy False False False -GARD:16879 Fleck corneal dystrophy False False False -GARD:1688 Deafness-epiphyseal dysplasia-short stature syndrome False False False -GARD:16880 Posterior amorphous corneal dystrophy False False False -GARD:16881 Central cloudy dystrophy of François False False False -GARD:16882 Posterior polymorphous corneal dystrophy False False False -GARD:16883 Juvenile glaucoma False False False -GARD:16884 Pulverulent cataract False False False -GARD:16885 Early-onset sutural cataract False False False -GARD:16886 Coralliform cataract False False False -GARD:16887 Early-onset nuclear cataract False False False -GARD:16888 Early-onset partial cataract False False False -GARD:16889 Early-onset posterior polar cataract False False False -GARD:16890 Butterfly-shaped pigment dystrophy False False False -GARD:16891 Reticular dystrophy of the retinal pigment epithelium False False False -GARD:16892 Discrete fixed membranous subaortic stenosis False False False -GARD:16893 Complete atrioventricular septal defect with ventricular hypoplasia False False False -GARD:16894 Complete atrioventricular septal defect-tetralogy of Fallot False False False -GARD:16895 Interventricular septum aneurysm False False False -GARD:16896 Congenital total pulmonary venous return anomaly False False False -GARD:16897 6-phosphogluconate dehydrogenase deficiency False False False -GARD:16898 Lymphedema-posterior choanal atresia syndrome False False False -GARD:16899 Isolated distichiasis False False False -GARD:169 Schneckenbecken dysplasia False False False -GARD:16900 Kandori fleck retina False False False -GARD:16901 Familial medullary thyroid carcinoma False False False -GARD:16902 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria False False False -GARD:16903 Fried's tooth and nail syndrome False False False -GARD:16904 Myotonia fluctuans False False False -GARD:16905 Myotonia permanens False False False -GARD:16906 Acetazolamide-responsive myotonia False False False -GARD:16907 Cleft velum False False False -GARD:16908 Oligodontia False False False -GARD:16909 Haddad syndrome False False False -GARD:1691 Deafness-hypogonadism syndrome False False False -GARD:16910 Oculootodental syndrome False False False -GARD:16911 PEHO-like syndrome False False False -GARD:16912 Turcot syndrome with polyposis False False False -GARD:16913 Familial gestational hyperthyroidism False False False -GARD:16914 Resistance to thyrotropin-releasing hormone syndrome False False False -GARD:16915 Leukocyte adhesion deficiency type III False False False -GARD:16916 Genetic recurrent myoglobinuria False False False -GARD:16917 Autosomal dominant myoglobinuria False False False -GARD:16918 Ovarioleukodystrophy False False False -GARD:16919 Cree leukoencephalopathy False False False -GARD:16920 Precursor B-cell acute lymphoblastic leukemia False False False -GARD:16921 Spermatocytic seminoma False False False -GARD:16922 Thymoma False False False -GARD:16923 Familial isolated hyperparathyroidism False False False -GARD:16924 Pigeon-breeder lung disease False False False -GARD:16925 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 False False False -GARD:16926 Atypical teratoid rhabdoid tumor False False False -GARD:16927 Adenocarcinoma of the esophagus False False False -GARD:16928 Complex regional pain syndrome type 1 False False False -GARD:16929 ABeta amyloidosis, Dutch type False False False -GARD:16930 ACys amyloidosis False False False -GARD:16931 Hypocalcified amelogenesis imperfecta False False False -GARD:16932 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism False False False -GARD:16933 Hereditary angioedema type 1 False False False -GARD:16934 Hereditary angioedema type 2 False False False -GARD:16935 F12-related hereditary angioedema with normal C1Inh False False False -GARD:16936 Renin-angiotensin-aldosterone system-blocker-induced angioedema False False False -GARD:16937 Porphyria due to ALA dehydratase deficiency False False False -GARD:16938 Bathing suit ichthyosis False False False -GARD:16939 Autosomal recessive spastic paraplegia type 21 False False False -GARD:16940 Autosomal recessive spastic paraplegia type 27 False False False -GARD:16941 Autosomal recessive spastic paraplegia type 28 False False False -GARD:16942 Autosomal spastic paraplegia type 30 False False False -GARD:16943 Congenital stromal corneal dystrophy False False False -GARD:16944 Familial isolated congenital asplenia False False False -GARD:16945 Congenital sodium diarrhea False False False -GARD:16946 Tropical pancreatitis False False False -GARD:16947 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome False False False -GARD:16948 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome False False False -GARD:16949 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 False False False -GARD:1695 Lowe-Kohn-Cohen syndrome False False False -GARD:16950 Hypotonia with lactic acidemia and hyperammonemia False False False -GARD:16951 Choanal atresia False False False -GARD:16952 17q11.2 microduplication syndrome False False False -GARD:16953 Distal hereditary motor neuropathy type 1 False False False -GARD:16954 Distal hereditary motor neuropathy type 2 False False False -GARD:16955 Distal hereditary motor neuropathy type 5 False False False -GARD:16956 Distal spinal muscular atrophy type 3 False False False -GARD:16957 X-linked distal spinal muscular atrophy type 3 False False False -GARD:16958 Hereditary sensory and autonomic neuropathy type 1B False False False -GARD:16959 Mutilating hereditary sensory neuropathy with spastic paraplegia False False False -GARD:1696 Isolated growth hormone deficiency type II False False False -GARD:16960 Distal hereditary motor neuropathy type 7 False False False -GARD:16961 Primary intraosseous venous malformation False False False -GARD:16962 Autosomal dominant slowed nerve conduction velocity False False False -GARD:16963 Brachydactyly type B2 False False False -GARD:16964 Short stature due to primary acid-labile subunit deficiency False False False -GARD:16965 Autosomal dominant macrothrombocytopenia False False False -GARD:16966 Bilateral microtia-deafness-cleft palate syndrome False False False -GARD:16967 Palmoplantar keratoderma, Nagashima type False False False -GARD:16968 Second branchial cleft anomaly False False False -GARD:16969 External auditory canal aplasia/hypoplasia False False False -GARD:1697 Deafness, autosomal recessive 1a False False False -GARD:16970 Nasal dermoid cyst False False False -GARD:16971 Hemifacial hyperplasia False False False -GARD:16972 Isolated congenital hypoglossia/aglossia False False False -GARD:16973 Paramedian nasal cleft False False False -GARD:16974 Tessier number 4 facial cleft False False False -GARD:16975 Tessier number 7 facial cleft False False False -GARD:16976 Cleft lip and alveolus False False False -GARD:16977 Hereditary hypophosphatemic rickets with hypercalciuria False False False -GARD:16978 Congenital or early infantile CACH syndrome False False False -GARD:16979 Late infantile CACH syndrome False False False -GARD:1698 Deafness-oligodontia syndrome False False False -GARD:16980 Juvenile or adult CACH syndrome False False False -GARD:16981 Hereditary mixed polyposis syndrome False False False -GARD:16982 Serrated polyposis syndrome False False False -GARD:16983 Cold-induced sweating syndrome False False False -GARD:16984 Craniorhiny False False False -GARD:16985 Huntington disease-like 1 False False False -GARD:16986 Huntington disease-like 3 False False False -GARD:16987 ANE syndrome False False False -GARD:16988 Oculoauricular syndrome, Schorderet type False False False -GARD:16989 Hereditary progressive mucinous histiocytosis False False False -GARD:16990 Epidermolysis bullosa simplex with circinate migratory erythema False False False -GARD:16991 Epidermolysis bullosa simplex with pyloric atresia False False False -GARD:16992 Hb Bart's hydrops fetalis False False False -GARD:16993 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome False False False -GARD:16994 Spondyloepiphyseal dysplasia, Reardon type False False False -GARD:16995 Spondyloepiphyseal dysplasia tarda, Kohn type False False False -GARD:16996 Spondyloepiphyseal dysplasia, MacDermot type False False False -GARD:16997 CNTNAP2-related developmental and epileptic encephalopathy False False False -GARD:16998 Hypotonia-cystinuria syndrome False False False -GARD:16999 2p21 microdeletion syndrome False False False -GARD:17 Arachnoid cyst False False False -GARD:17000 Action myoclonus-renal failure syndrome False False False -GARD:17001 Benign familial mesial temporal lobe epilepsy False False False -GARD:17002 Rolandic epilepsy-speech dyspraxia syndrome False False False -GARD:17003 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome False False False -GARD:17004 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease False False False -GARD:17005 X-linked intellectual disability, Nascimento type False False False -GARD:17006 X-linked cerebral-cerebellar-coloboma syndrome False False False -GARD:17007 X-linked dominant chondrodysplasia, Chassaing-Lacombe type False False False -GARD:17008 X-linked intellectual disability, Van Esch type False False False -GARD:17009 X-linked intellectual disability-craniofacioskeletal syndrome False False False -GARD:17010 Hyperekplexia-epilepsy syndrome False False False -GARD:17011 Familial mesial temporal lobe epilepsy with febrile seizures False False False -GARD:17012 Multiple epiphyseal dysplasia, Beighton type False False False -GARD:17013 Multiple epiphyseal dysplasia, Lowry type False False False -GARD:17014 Multiple epiphyseal dysplasia, Al-Gazali type False False False -GARD:17015 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia False False False -GARD:17016 Multiple epiphyseal dysplasia, with miniepiphyses False False False -GARD:17017 Brachydactyly-short stature-retinitis pigmentosa syndrome False False False -GARD:17018 Metaphyseal chondrodysplasia, Kaitila type False False False -GARD:17019 Von Willebrand disease type 1 False False False -GARD:17020 Von Willebrand disease type 2 False False False -GARD:17021 Von Willebrand disease type 2A False False False -GARD:17022 Von Willebrand disease type 2B False False False -GARD:17023 Von Willebrand disease type 2M False False False -GARD:17024 Von Willebrand disease type 2N False False False -GARD:17025 Von Willebrand disease type 3 False False False -GARD:17026 FASTKD2-related infantile mitochondrial encephalomyopathy False False False -GARD:17027 Isolated osteopoikilosis False False False -GARD:17028 Hot water reflex epilepsy False False False -GARD:17029 Reading seizures False False False -GARD:17030 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome False False False -GARD:17031 Congenital neuronal ceroid lipofuscinosis False False False -GARD:17032 Late infantile neuronal ceroid lipofuscinosis False False False -GARD:17033 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency False False False -GARD:17034 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome False False False -GARD:17035 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 False False False -GARD:17036 Hereditary cryohydrocytosis with reduced stomatin False False False -GARD:17037 Hereditary North American Indian childhood cirrhosis False False False -GARD:17038 Congenital enteropathy due to enteropeptidase deficiency False False False -GARD:17039 Seborrhea-like dermatitis with psoriasiform elements False False False -GARD:17040 Congenital deficiency in alpha-fetoprotein False False False -GARD:17041 Autosomal thrombocytopenia with normal platelets False False False -GARD:17042 Generalized basaloid follicular hamartoma syndrome False False False -GARD:17043 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement False False False -GARD:17044 CLAPO syndrome False False False -GARD:17045 Cernunnos-XLF deficiency False False False -GARD:17046 Combined immunodeficiency due to CD3gamma deficiency False False False -GARD:17047 Susceptibility to respiratory infections associated with CD8alpha chain mutation False False False -GARD:17048 Combined immunodeficiency due to CRAC channel dysfunction False False False -GARD:17049 Immunodeficiency due to CD25 deficiency False False False -GARD:1705 Deafness-vitiligo-achalasia syndrome False False False -GARD:17050 Immunodeficiency due to a late component of complement deficiency False False False -GARD:17051 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency False False False -GARD:17052 T-B+ severe combined immunodeficiency due to CD45 deficiency False False False -GARD:17053 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta False False False -GARD:17054 Primary CD59 deficiency False False False -GARD:17055 Recurrent Neisseria infections due to factor D deficiency False False False -GARD:17056 Severe hemophilia B False False False -GARD:17057 Moderate hemophilia B False False False -GARD:17058 Mild hemophilia B False False False -GARD:17059 Severe hemophilia A False False False -GARD:17060 Moderate hemophilia A False False False -GARD:17061 Mild hemophilia A False False False -GARD:17062 Muscle filaminopathy False False False -GARD:17063 X-linked spastic paraplegia type 34 False False False -GARD:17064 Autosomal dominant spastic paraplegia type 37 False False False -GARD:17065 Autosomal dominant spastic paraplegia type 38 False False False -GARD:17066 Lissencephaly due to TUBA1A mutation False False False -GARD:17067 Metabolic myopathy due to lactate transporter defect False False False -GARD:17068 Short stature-delayed bone age due to thyroid hormone metabolism deficiency False False False -GARD:17069 Cutis laxa-Marfanoid syndrome False False False -GARD:17070 Blindness-scoliosis-arachnodactyly syndrome False False False -GARD:17071 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome False False False -GARD:17072 MEDNIK syndrome False False False -GARD:17073 Autosomal dominant spastic paraplegia type 42 False False False -GARD:17074 Prader-Willi syndrome due to translocation False False False -GARD:17075 Prader-Willi syndrome due to imprinting mutation False False False -GARD:17076 Bleeding disorder in hemophilia A carriers False False False -GARD:17077 Bleeding disorder in hemophilia B carriers False False False -GARD:17078 Moderate multiminicore disease with hand involvement False False False -GARD:17079 Reticulate acropigmentation of Kitamura False False False -GARD:1708 Deafness, autosomal dominant 23 False False False -GARD:17080 Distal myopathy with anterior tibial onset False False False -GARD:17081 X-linked myopathy with postural muscle atrophy False False False -GARD:17082 Brain calcification, Rajab type False False False -GARD:17083 Obesity due to leptin receptor gene deficiency False False False -GARD:17084 Hyper-IgM syndrome with susceptibility to opportunistic infections False False False -GARD:17085 Hyper-IgM syndrome without susceptibility to opportunistic infections False False False -GARD:17086 Recurrent infections associated with rare immunoglobulin isotypes deficiency False False False -GARD:17087 Neutrophil immunodeficiency syndrome False False False -GARD:17088 Familial isolated hypoparathyroidism due to impaired PTH secretion False False False -GARD:17089 Familial angiolipomatosis False False False -GARD:17090 Hereditary hypercarotenemia and vitamin A deficiency False False False -GARD:17091 Isolated cleft lip False False False -GARD:17092 Cleft lip/palate False False False -GARD:17093 Familial clubfoot with or without associated lower limb anomalies False False False -GARD:17094 Endocrine-cerebro-osteodysplasia syndrome False False False -GARD:17095 Pancreatic insufficiency-anemia-hyperostosis syndrome False False False -GARD:17096 Muscular dystrophy, Selcen type False False False -GARD:17097 Thiamine-responsive encephalopathy False False False -GARD:17098 Immunodeficiency with factor I anomaly False False False -GARD:17099 Immunodeficiency with factor H anomaly False False False -GARD:17100 Gonadoblastoma False False False -GARD:17101 Autosomal recessive lower motor neuron disease with childhood onset False False False -GARD:17102 Autosomal dominant adult-onset proximal spinal muscular atrophy False False False -GARD:17103 Severe neonatal-onset encephalopathy with microcephaly False False False -GARD:17104 Autosomal dominant rhegmatogenous retinal detachment False False False -GARD:17105 Extraskeletal myxoid chondrosarcoma False False False -GARD:17106 Idiopathic copper-associated cirrhosis False False False -GARD:17107 Episodic ataxia type 6 False False False -GARD:17108 Episodic ataxia type 7 False False False -GARD:17109 Inherited congenital spastic tetraplegia False False False -GARD:17110 Lethal polymalformative syndrome, Boissel type False False False -GARD:17111 Congenital lethal myopathy, Compton-North type False False False -GARD:17112 Macrocephaly-intellectual disability-autism syndrome False False False -GARD:17113 Episodic ataxia type 5 False False False -GARD:17114 Classic pantothenate kinase-associated neurodegeneration False False False -GARD:17115 Atypical pantothenate kinase-associated neurodegeneration False False False -GARD:17116 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type False False False -GARD:17117 Isolated congenital digital clubbing False False False -GARD:17118 Mucopolysaccharidosis type 2, severe form False False False -GARD:17119 Mucopolysaccharidosis type 2, attenuated form False False False -GARD:17120 RIN2 syndrome False False False -GARD:17121 17q21.31 microduplication syndrome False False False -GARD:17122 17p13.3 microduplication syndrome False False False -GARD:17123 Progressive polyneuropathy with bilateral striatal necrosis False False False -GARD:17124 Hereditary hypotrichosis with recurrent skin vesicles False False False -GARD:17125 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency False False False -GARD:17126 Neonatal acute respiratory distress due to SP-B deficiency False False False -GARD:17127 Chronic respiratory distress with surfactant metabolism deficiency False False False -GARD:17128 Sensorineural deafness with dilated cardiomyopathy False False False -GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia False False False -GARD:17130 Xeroderma pigmentosum-Cockayne syndrome complex False False False -GARD:17131 Semilobar holoprosencephaly False False False -GARD:17132 Bleeding diathesis due to thromboxane synthesis deficiency False False False -GARD:17133 Laron syndrome with immunodeficiency False False False -GARD:17134 Rothmund-Thomson syndrome type 1 False False False -GARD:17135 Rothmund-Thomson syndrome type 2 False False False -GARD:17136 Hereditary sclerosing poikiloderma, Weary type False False False -GARD:17137 Hemifacial spasm False False False -GARD:17138 Fowler vasculopaty False False False -GARD:17139 Combined immunodeficiency with faciooculoskeletal anomalies False False False -GARD:17140 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies False False False -GARD:17141 Familial infantile bilateral striatal necrosis False False False -GARD:17142 Hereditary breast cancer False False False -GARD:17143 Autosomal recessive optic atrophy, OPA7 type False False False -GARD:17144 Severe combined immunodeficiency due to CORO1A deficiency False False False -GARD:17145 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome False False False -GARD:17146 Autosomal dominant striatal neurodegeneration False False False -GARD:17147 Autosomal dominant Charcot-Marie-Tooth disease type 2M False False False -GARD:17148 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome False False False -GARD:17149 Carnitine palmitoyl transferase II deficiency, myopathic form False False False -GARD:17150 Carnitine palmitoyl transferase II deficiency, severe infantile form False False False -GARD:17151 Carnitine palmitoyl transferase II deficiency, neonatal form False False False -GARD:17152 CLN8 disease False False False -GARD:17153 Charcot-Marie-Tooth disease type 2B5 False False False -GARD:17154 Spondylo-megaepiphyseal-metaphyseal dysplasia False False False -GARD:17155 Isolated agammaglobulinemia False False False -GARD:17156 Ehlers-Danlos/osteogenesis imperfecta syndrome False False False -GARD:17157 Erythema palmare hereditarium False False False -GARD:17158 Familial generalized lentiginosis False False False -GARD:17159 Familial rhabdoid tumor False False False -GARD:17160 Beckwith-Wiedemann syndrome due to CDKN1C mutation False False False -GARD:17161 Familial cerebral saccular aneurysm False False False -GARD:17162 Beta-thalassemia major False False False -GARD:17163 Beta-thalassemia intermedia False False False -GARD:17164 Dominant beta-thalassemia False False False -GARD:17165 Delta-beta-thalassemia False False False -GARD:17166 Beta-thalassemia-X-linked thrombocytopenia syndrome False False False -GARD:17167 Alpha-thalassemia-myelodysplastic syndrome False False False -GARD:17168 Hermansky-Pudlak syndrome due to BLOC-3 deficiency False False False -GARD:17169 Hermansky-Pudlak syndrome due to BLOC-2 deficiency False False False -GARD:17170 Hermansky-Pudlak syndrome due to BLOC-1 deficiency False False False -GARD:17171 Severe X-linked mitochondrial encephalomyopathy False False False -GARD:17172 15q11q13 microduplication syndrome False False False -GARD:17173 Familial hypercholanemia False False False -GARD:17174 Combined immunodeficiency due to CD27 deficiency False False False -GARD:17175 Atypical hypotonia-cystinuria syndrome False False False -GARD:17176 Chuvash erythrocytosis False False False -GARD:17177 Familial clubfoot due to 17q23.1q23.2 microduplication False False False -GARD:17178 Beckwith-Wiedemann syndrome due to NSD1 mutation False False False -GARD:17179 Isolated thyrotropin-releasing hormone deficiency False False False -GARD:17180 Mammary-digital-nail syndrome False False False -GARD:17181 4q21 microdeletion syndrome False False False -GARD:17182 Classic progressive supranuclear palsy syndrome False False False -GARD:17183 Progressive supranuclear palsy-parkinsonism syndrome False False False -GARD:17184 Nijmegen breakage syndrome-like disorder False False False -GARD:17185 Dimethylglycine dehydrogenase deficiency False False False -GARD:17186 Dominant hypophosphatemia with nephrolithiasis or osteoporosis False False False -GARD:17187 Progressive cerebello-cerebral atrophy False False False -GARD:17188 Hyperphosphatasia-intellectual disability syndrome False False False -GARD:17189 Autosomal dominant secondary polycythemia False False False -GARD:17190 Primary ciliary dyskinesia-retinitis pigmentosa syndrome False False False -GARD:17191 Perinatal lethal hypophosphatasia False False False -GARD:17192 Infantile hypophosphatasia False False False -GARD:17193 Adult hypophosphatasia False False False -GARD:17194 Odontohypophosphatasia False False False -GARD:17195 Müllerian aplasia and hyperandrogenism False False False -GARD:17196 Juvenile cataract-microcornea-renal glucosuria syndrome False False False -GARD:17197 APC-related attenuated familial adenomatous polyposis False False False -GARD:17198 Ectodermal dysplasia-syndactyly syndrome False False False -GARD:17199 Ectodermal dysplasia-cutaneous syndactyly syndrome False False False -GARD:172 Macrocephaly-short stature-paraplegia syndrome False False False -GARD:17200 Occult macular dystrophy False False False -GARD:17201 NLRP12-associated hereditary periodic fever syndrome False False False -GARD:17202 Familial hypodysfibrinogenemia False False False -GARD:17203 Autosomal recessive Stickler syndrome False False False -GARD:17204 SATB2-associated syndrome due to a chromosomal rearrangement False False False -GARD:17205 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome False False False -GARD:17206 Autosomal dominant spastic ataxia type 1 False False False -GARD:17207 Parietal foramina with clavicular hypoplasia False False False -GARD:17208 Pigmented paravenous retinochoroidal atrophy False False False -GARD:17209 Ataxia-telangiectasia-like disorder False False False -GARD:17210 CK syndrome False False False -GARD:17211 46,XY partial gonadal dysgenesis False False False -GARD:17212 Distal arthrogryposis type 10 False False False -GARD:17213 Hyperzincemia and hypercalprotectinemia False False False -GARD:17214 Medulloblastoma with extensive nodularity False False False -GARD:17215 Desmoplastic/nodular medulloblastoma False False False -GARD:17216 Classic medulloblastoma False False False -GARD:17217 Constitutional mismatch repair deficiency syndrome False False False -GARD:17218 Distal 7q11.23 microdeletion syndrome False False False -GARD:17219 Kagami-Ogata syndrome False False False -GARD:1722 Erythrokeratoderma ''en cocardes'' False False False -GARD:17220 Temple syndrome due to paternal 14q32.2 microdeletion False False False -GARD:17221 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion False False False -GARD:17222 Temple syndrome due to paternal 14q32.2 hypomethylation False False False -GARD:17223 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation False False False -GARD:17224 Complete hydatidiform mole False False False -GARD:17225 Mitochondrial DNA depletion syndrome, encephalomyopathic form False False False -GARD:17226 Lethal infantile mitochondrial myopathy False False False -GARD:17227 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency False False False -GARD:17228 Mitochondrial DNA depletion syndrome, myopathic form False False False -GARD:17229 Spinocerebellar ataxia with epilepsy False False False -GARD:17230 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome False False False -GARD:17231 Renal tubulopathy-encephalopathy-liver failure syndrome False False False -GARD:17232 Combined oxidative phosphorylation defect type 2 False False False -GARD:17233 Combined oxidative phosphorylation defect type 4 False False False -GARD:17234 Combined oxidative phosphorylation defect type 7 False False False -GARD:17235 Adult-onset autosomal recessive sideroblastic anemia False False False -GARD:17236 Pyruvate dehydrogenase E1-beta deficiency False False False -GARD:17237 Pyruvate dehydrogenase E3-binding protein deficiency False False False -GARD:17238 Leigh syndrome with leukodystrophy False False False -GARD:17239 Leigh syndrome with nephrotic syndrome False False False -GARD:17240 Autosomal recessive sideroblastic anemia False False False -GARD:17241 14q11.2 microdeletion syndrome False False False -GARD:17242 15q14 microdeletion syndrome False False False -GARD:17243 16p11.2p12.2 microdeletion syndrome False False False -GARD:17244 Distal 16p11.2 microdeletion syndrome False False False -GARD:17245 Distal 22q11.2 microdeletion syndrome False False False -GARD:17246 Xp21 deletion syndrome False False False -GARD:17247 Xq27.3q28 duplication syndrome False False False -GARD:17248 Mowat-Wilson syndrome due to monosomy 2q22 False False False -GARD:17249 Mowat-Wilson syndrome due to a ZEB2 point mutation False False False -GARD:17250 Alagille syndrome due to 20p12 microdeletion False False False -GARD:17251 Alagille syndrome due to a JAG1 point mutation False False False -GARD:17252 Alagille syndrome due to a NOTCH2 point mutation False False False -GARD:17253 Kleefstra syndrome due to a point mutation False False False -GARD:17254 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency False False False -GARD:17255 MRCS syndrome False False False -GARD:17256 Hyperinsulinism due to INSR deficiency False False False -GARD:17257 Acute necrotizing encephalopathy of childhood False False False -GARD:17258 Peeling skin syndrome type A False False False -GARD:17259 Peeling skin syndrome type B False False False -GARD:17260 Familial multiple meningioma False False False -GARD:17261 Glycogen storage disease due to liver phosphorylase kinase deficiency False False False -GARD:17262 RAS-associated autoimmune leukoproliferative disease False False False -GARD:17263 Classic maple syrup urine disease False False False -GARD:17264 Intermediate maple syrup urine disease False False False -GARD:17265 Intermittent maple syrup urine disease False False False -GARD:17266 Thiamine-responsive maple syrup urine disease False False False -GARD:17267 Hereditary thrombocytopenia with normal platelets False False False -GARD:17268 Neural tube closure defect False False False -GARD:17269 Bilateral polymicrogyria False False False -GARD:1727 Delayed membranous cranial ossification False False False -GARD:17270 Isolated focal cortical dysplasia type IIa False False False -GARD:17271 Isolated focal cortical dysplasia type IIb False False False -GARD:17272 Congenital non-communicating hydrocephalus False False False -GARD:17273 Frontotemporal dementia with motor neuron disease False False False -GARD:17274 Benign epithelial tumor of salivary glands False False False -GARD:17275 Multiple endocrine neoplasia type 4 False False False -GARD:17276 Spinocerebellar ataxia type 32 False False False -GARD:17277 Non-syndromic male infertility due to sperm motility disorder False False False -GARD:17278 Familial multinodular goiter False False False -GARD:17279 Hyperbiliverdinemia False False False -GARD:17280 10q22.3q23.3 microdeletion syndrome False False False -GARD:17281 Ogden syndrome False False False -GARD:17282 Lower motor neuron syndrome with late-adult onset False False False -GARD:17283 Autosomal dominant hyperinsulinism due to SUR1 deficiency False False False -GARD:17284 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency False False False -GARD:17285 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency False False False -GARD:17286 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency False False False -GARD:17287 Hereditary neutrophilia False False False -GARD:17288 Severe combined immunodeficiency due to LCK deficiency False False False -GARD:17289 Septopreoptic holoprosencephaly False False False -GARD:17290 Microform holoprosencephaly False False False -GARD:17291 Pelizaeus-Merzbacher disease, connatal form False False False -GARD:17292 Null syndrome False False False -GARD:17293 Pelizaeus-Merzbacher-like disease due to GJC2 mutation False False False -GARD:17294 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation False False False -GARD:17295 Familial steroid-resistant nephrotic syndrome with sensorineural deafness False False False -GARD:17296 Fatal infantile hypertonic myofibrillar myopathy False False False -GARD:17297 Hemoglobinopathy Toms River False False False -GARD:17298 Familial progressive hyper- and hypopigmentation False False False -GARD:17299 Occipital pachygyria and polymicrogyria False False False -GARD:17300 Acrodysostosis with multiple hormone resistance False False False -GARD:17301 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome False False False -GARD:17302 Syndromic recessive X-linked ichthyosis False False False -GARD:17303 Self-improving collodion baby False False False -GARD:17304 Annular epidermolytic ichthyosis False False False -GARD:17305 Congenital reticular ichthyosiform erythroderma False False False -GARD:17306 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome False False False -GARD:17307 Inherited Creutzfeldt-Jakob disease False False False -GARD:17308 Larsen-like syndrome, B3GAT3 type False False False -GARD:17309 Craniosynostosis-dental anomalies False False False -GARD:17310 8q21.11 microdeletion syndrome False False False -GARD:17311 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion False False False -GARD:17312 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome False False False -GARD:17313 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency False False False -GARD:17314 Adult-onset autosomal recessive cerebellar ataxia False False False -GARD:17315 Pontocerebellar hypoplasia type 7 False False False -GARD:17316 Glycerol kinase deficiency, juvenile form False False False -GARD:17317 Glycerol kinase deficiency, adult form False False False -GARD:17318 Marfan syndrome type 2 False False False -GARD:17319 Hypocalcemic vitamin D-dependent rickets False False False -GARD:17320 Autosomal recessive hypophosphatemic rickets False False False -GARD:17321 Hypermethioninemia encephalopathy due to adenosine kinase deficiency False False False -GARD:17322 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency False False False -GARD:17323 Familial vesicoureteral reflux False False False -GARD:17324 Early-onset myopathy with fatal cardiomyopathy False False False -GARD:17325 Myosclerosis False False False -GARD:17326 Intellectual disability-alacrima-achalasia syndrome False False False -GARD:17327 Congenital cataract microcornea with corneal opacity False False False -GARD:17328 Dysmorphism-conductive hearing loss-heart defect syndrome False False False -GARD:17329 Exfoliative ichthyosis False False False -GARD:17330 Glutathione synthetase deficiency with 5-oxoprolinuria False False False -GARD:17331 Glutathione synthetase deficiency without 5-oxoprolinuria False False False -GARD:17332 Neonatal glycine encephalopathy False False False -GARD:17333 Infantile glycine encephalopathy False False False -GARD:17334 Atypical glycine encephalopathy False False False -GARD:17335 Vitamin B12-unresponsive methylmalonic acidemia type mut0 False False False -GARD:17336 Familial clubfoot due to 5q31 microdeletion False False False -GARD:17337 Familial clubfoot due to PITX1 point mutation False False False -GARD:17338 Epithelial recurrent erosion dystrophy False False False -GARD:17339 X-linked endothelial corneal dystrophy False False False -GARD:17340 PYCR1-related De Barsy syndrome False False False -GARD:17341 Blepharophimosis-intellectual disability syndrome, MKB type False False False -GARD:17342 Blepharophimosis-intellectual disability syndrome, Verloes type False False False -GARD:17343 MITF-related melanoma and renal cell carcinoma predisposition syndrome False False False -GARD:17344 Congenital dyserythropoietic anemia type IV False False False -GARD:17345 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form False False False -GARD:17346 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form False False False -GARD:17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form False False False -GARD:17348 Lethal occipital encephalocele-skeletal dysplasia syndrome False False False -GARD:17349 EDICT syndrome False False False -GARD:17350 Distal Xq28 microduplication syndrome False False False -GARD:17351 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome False False False -GARD:17352 Hypoinsulinemic hypoglycemia and body hemihypertrophy False False False -GARD:17353 Deficiency in anterior pituitary function-variable immunodeficiency syndrome False False False -GARD:17354 Microcephaly-capillary malformation syndrome False False False -GARD:17355 Neonatal inflammatory skin and bowel disease False False False -GARD:17356 Renal-hepatic-pancreatic dysplasia False False False -GARD:17357 Zygodactyly type 1 False False False -GARD:17358 Synpolydactyly type 1 False False False -GARD:17359 Synpolydactyly type 2 False False False -GARD:17360 Synpolydactyly type 3 False False False -GARD:17361 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency False False False -GARD:17362 Connective tissue disorder due to lysyl hydroxylase-3 deficiency False False False -GARD:17363 Transient infantile hypertriglyceridemia and hepatosteatosis False False False -GARD:17364 Severe congenital hypochromic anemia with ringed sideroblasts False False False -GARD:17365 Congenital cataract-hearing loss-severe developmental delay syndrome False False False -GARD:17366 Persistent polyclonal B-cell lymphocytosis False False False -GARD:17367 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome False False False -GARD:17368 Autosomal systemic lupus erythematosus False False False -GARD:17369 PLCG2-associated antibody deficiency and immune dysregulation False False False -GARD:17370 X-linked acrogigantism False False False -GARD:17371 Progeroid and marfanoid aspect-lipodystrophy syndrome False False False -GARD:17372 Pseudohypoaldosteronism type 2D False False False -GARD:17373 Pseudohypoaldosteronism type 2E False False False -GARD:17374 Autosomal recessive infantile hypercalcemia False False False -GARD:17375 Polymicrogyria due to TUBB2B mutation False False False -GARD:17376 Oligodontia-cancer predisposition syndrome False False False -GARD:17377 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome False False False -GARD:17378 Autosomal recessive spastic paraplegia type 48 False False False -GARD:17379 Congenital hereditary facial paralysis-variable hearing loss syndrome False False False -GARD:17380 Porencephaly-microcephaly-bilateral congenital cataract syndrome False False False -GARD:17381 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome False False False -GARD:17382 Sodium channelopathy-related small fiber neuropathy False False False -GARD:17383 Primary dystonia, DYT21 type False False False -GARD:17384 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome False False False -GARD:17385 Methylcobalamin deficiency type cblDv1 False False False -GARD:17386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A False False False -GARD:17387 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B False False False -GARD:17388 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C False False False -GARD:17389 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency False False False -GARD:17390 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency False False False -GARD:17391 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 False False False -GARD:17392 Erythrocyte galactose epimerase deficiency False False False -GARD:17393 Generalized galactose epimerase deficiency False False False -GARD:17394 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form False False False -GARD:17395 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form False False False -GARD:17396 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form False False False -GARD:17397 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form False False False -GARD:17398 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form False False False -GARD:17399 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form False False False -GARD:17400 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form False False False -GARD:17401 Pancreatic triacylglycerol lipase deficiency False False False -GARD:17402 Pancreatic colipase deficiency False False False -GARD:17403 Combined pancreatic lipase-colipase deficiency False False False -GARD:17404 Sandhoff disease, juvenile form False False False -GARD:17405 Sandhoff disease, adult form False False False -GARD:17406 GM2 gangliosidosis, AB variant False False False -GARD:17407 Alpha-mannosidosis, infantile form False False False -GARD:17408 Alpha-mannosidosis, adult form False False False -GARD:17409 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome False False False -GARD:17410 Jawad syndrome False False False -GARD:17411 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome False False False -GARD:17412 Coats plus syndrome False False False -GARD:17413 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome False False False -GARD:17414 12p12.1 microdeletion syndrome False False False -GARD:17415 Developmental and speech delay due to SOX5 deficiency False False False -GARD:17416 Gastric adenocarcinoma and proximal polyposis of the stomach False False False -GARD:17417 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity False False False -GARD:17418 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency False False False -GARD:17419 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome False False False -GARD:17420 Autosomal dominant aplasia and myelodysplasia False False False -GARD:17421 Young adult-onset distal hereditary motor neuropathy False False False -GARD:17422 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome False False False -GARD:17423 15q overgrowth syndrome False False False -GARD:17424 Distal tetrasomy 15q False False False -GARD:17425 Autosomal recessive spastic ataxia with leukoencephalopathy False False False -GARD:17426 CLN11 disease False False False -GARD:17427 ATP13A2-related juvenile neuronal ceroid lipofuscinosis False False False -GARD:17428 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency False False False -GARD:17429 Non-progressive cerebellar ataxia with intellectual disability False False False -GARD:17430 Combined immunodeficiency due to STK4 deficiency False False False -GARD:17431 Primary systemic amyloidosis False False False -GARD:17432 Lethal arteriopathy syndrome due to fibulin-4 deficiency False False False -GARD:17433 Atypical dentin dysplasia due to SMOC2 deficiency False False False -GARD:17434 SHOX-related short stature False False False -GARD:17435 Short stature due to partial GHR deficiency False False False -GARD:17436 Short stature due to GHSR deficiency False False False -GARD:17437 Severe Canavan disease False False False -GARD:17438 Mild Canavan disease False False False -GARD:17439 X-linked non progressive cerebellar ataxia False False False -GARD:17440 Cataract-congenital heart disease-neural tube defect syndrome False False False -GARD:17441 Severe combined immunodeficiency due to DNA-PKcs deficiency False False False -GARD:17442 Pancytopenia due to IKZF1 mutations False False False -GARD:17443 Congenital myopathy with internal nuclei and atypical cores False False False -GARD:17444 Familial cortical myoclonus False False False -GARD:17445 Autosomal recessive spastic paraplegia type 53 False False False -GARD:17446 MiT family translocation renal cell carcinoma False False False -GARD:17447 Autosomal recessive myogenic arthrogryposis multiplex congenita False False False -GARD:17448 Carney complex-trismus-pseudocamptodactyly syndrome False False False -GARD:17449 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations False False False -GARD:17450 Inherited acute myeloid leukemia False False False -GARD:17451 Acute myeloid leukemia with CEBPA somatic mutations False False False -GARD:17452 Combined oxidative phosphorylation defect type 8 False False False -GARD:17453 Combined oxidative phosphorylation defect type 9 False False False -GARD:17454 Combined oxidative phosphorylation defect type 13 False False False -GARD:17455 Combined oxidative phosphorylation defect type 14 False False False -GARD:17456 Combined oxidative phosphorylation defect type 15 False False False -GARD:17457 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency False False False -GARD:17458 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency False False False -GARD:17459 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency False False False -GARD:17460 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency False False False -GARD:17461 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency False False False -GARD:17462 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency False False False -GARD:17463 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency False False False -GARD:17464 X-linked mendelian susceptibility to mycobacterial diseases False False False -GARD:17465 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency False False False -GARD:17466 Amyloidosis cutis dyschromia False False False -GARD:17467 Retinal macular dystrophy type 2 False False False -GARD:17468 Alazami syndrome False False False -GARD:17469 Microcephalic primordial dwarfism, Dauber type False False False -GARD:17470 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome False False False -GARD:17471 Autosomal dominant spastic paraplegia type 41 False False False -GARD:17472 Autosomal dominant spastic paraplegia type 36 False False False -GARD:17473 Autosomal recessive spastic paraplegia type 43 False False False -GARD:17474 Autosomal recessive spastic paraplegia type 55 False False False -GARD:17475 Autosomal recessive spastic paraplegia type 54 False False False -GARD:17476 Autosomal recessive spastic paraplegia type 46 False False False -GARD:17477 Autosomal recessive spastic paraplegia type 45 False False False -GARD:17478 Autosomal recessive spastic paraplegia type 44 False False False -GARD:17479 Spastic paraplegia-optic atrophy-neuropathy syndrome False False False -GARD:17480 Autosomal recessive spastic paraplegia type 56 False False False -GARD:17481 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency False False False -GARD:17482 Early-onset Lafora body disease False False False -GARD:17483 T-cell immunodeficiency with epidermodysplasia verruciformis False False False -GARD:17484 Sinoatrial node dysfunction and deafness False False False -GARD:17485 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome False False False -GARD:17486 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation False False False -GARD:17487 Combined oxidative phosphorylation defect type 11 False False False -GARD:17488 Pontocerebellar hypoplasia type 8 False False False -GARD:17489 ABetaL34V amyloidosis False False False -GARD:17490 ABeta amyloidosis, Iowa type False False False -GARD:17491 ABeta amyloidosis, Italian type False False False -GARD:17492 ABetaA21G amyloidosis False False False -GARD:17493 ABeta amyloidosis, Arctic type False False False -GARD:17494 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis False False False -GARD:17495 Tall stature-long halluces-multiple extra-epiphyses syndrome False False False -GARD:17496 Developmental delay with autism spectrum disorder and gait instability False False False -GARD:17497 Autosomal dominant neovascular inflammatory vitreoretinopathy False False False -GARD:17498 Microcephalic primordial dwarfism due to ZNF335 deficiency False False False -GARD:17499 X-linked central congenital hypothyroidism with late-onset testicular enlargement False False False -GARD:175 Free sialic acid storage disease, infantile form False False False -GARD:17500 Congenital chronic diarrhea with protein-losing enteropathy False False False -GARD:17501 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency False False False -GARD:17502 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome False False False -GARD:17503 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy False False False -GARD:17504 Lipoprotein glomerulopathy False False False -GARD:17505 5p13 microduplication syndrome False False False -GARD:17506 Immunoglobulin-mediated membranoproliferative glomerulonephritis False False False -GARD:17507 C3 glomerulopathy False False False -GARD:17508 Generalized juvenile polyposis/juvenile polyposis coli False False False -GARD:17509 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect False False False -GARD:17510 Actinic prurigo False False False -GARD:17511 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency False False False -GARD:17512 Immunodeficiency due to MASP-2 deficiency False False False -GARD:17513 Immunodeficiency due to ficolin3 deficiency False False False -GARD:17514 Susceptibility to infection due to TYK2 deficiency False False False -GARD:17515 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome False False False -GARD:17516 Spectrin-associated autosomal recessive cerebellar ataxia False False False -GARD:17517 Progressive external ophthalmoplegia-myopathy-emaciation syndrome False False False -GARD:17518 DNA2-related mitochondrial DNA deletion syndrome False False False -GARD:17519 ISPD-related limb-girdle muscular dystrophy R20 False False False -GARD:17520 Autism spectrum disorder due to AUTS2 deficiency False False False -GARD:17521 Familial infantile myoclonic epilepsy False False False -GARD:17522 Progressive myoclonic epilepsy with dystonia False False False -GARD:17523 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome False False False -GARD:17524 Hereditary benign intraepithelial dyskeratosis False False False -GARD:17525 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome False False False -GARD:17526 Cobblestone lissencephaly without muscular or ocular involvement False False False -GARD:17527 CLN13 disease False False False -GARD:17528 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome False False False -GARD:17529 Progressive retinal dystrophy due to retinol transport defect False False False -GARD:17530 Temperature-sensitive oculocutaneous albinism type 1 False False False -GARD:17531 Oculocutaneous albinism type 7 False False False -GARD:17532 Epileptic encephalopathy with global cerebral demyelination False False False -GARD:17533 Familial primary localized cutaneous amyloidosis False False False -GARD:17534 Rubinstein-Taybi syndrome due to CREBBP mutations False False False -GARD:17535 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency False False False -GARD:17536 Pyruvate carboxylase deficiency, infantile type False False False -GARD:17537 Pyruvate carboxylase deficiency, severe neonatal type False False False -GARD:17538 Pyruvate carboxylase deficiency, benign type False False False -GARD:17539 Congenital myasthenic syndromes with glycosylation defect False False False -GARD:17540 D,L-2-hydroxyglutaric aciduria False False False -GARD:17541 ANK3-related intellectual disability-sleep disturbance syndrome False False False -GARD:17542 19p13.13 microdeletion syndrome False False False -GARD:17543 Hemolytic uremic syndrome with DGKE deficiency False False False -GARD:17544 Hereditary retinoblastoma False False False -GARD:17545 Non-hereditary retinoblastoma False False False -GARD:17546 Autosomal recessive cutis laxa type 2, classic type False False False -GARD:17547 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome False False False -GARD:17548 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome False False False -GARD:17549 Severe combined immunodeficiency due to CARD11 deficiency False False False -GARD:17550 Combined immunodeficiency due to IL21R deficiency False False False -GARD:17551 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome False False False -GARD:17552 Severe neurodegenerative syndrome with lipodystrophy False False False -GARD:17553 Fetal akinesia-cerebral and retinal hemorrhage syndrome False False False -GARD:17554 Hypomyelination with brain stem and spinal cord involvement and leg spasticity False False False -GARD:17555 Multiple mitochondrial dysfunctions syndrome type 3 False False False -GARD:17556 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome False False False -GARD:17557 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency False False False -GARD:17558 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome False False False -GARD:17559 Autosomal dominant childhood-onset proximal spinal muscular atrophy False False False -GARD:17560 Testicular teratoma False False False -GARD:17561 Non-seminomatous germ cell tumor of testis False False False -GARD:17562 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome False False False -GARD:17563 Intellectual disability-strabismus syndrome False False False -GARD:17564 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form False False False -GARD:17565 Leukoencephalopathy with mild cerebellar ataxia and white matter edema False False False -GARD:17566 CTCF-related neurodevelopmental disorder False False False -GARD:17567 X-linked parkinsonism-spasticity syndrome False False False -GARD:17568 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia False False False -GARD:17569 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome False False False -GARD:17570 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion False False False -GARD:17571 Craniofaciofrontodigital syndrome False False False -GARD:17572 Alexander disease type I False False False -GARD:17573 Alexander disease type II False False False -GARD:17574 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia False False False -GARD:17575 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome False False False -GARD:17576 17q21.31 microdeletion syndrome False False False -GARD:17577 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia False False False -GARD:17578 Charcot-Marie-Tooth disease type 4B3 False False False -GARD:17579 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome False False False -GARD:17580 Non-immune hydrops fetalis False False False -GARD:17581 X-linked intellectual disability due to GRIA3 mutations False False False -GARD:17582 Infantile epileptic-dyskinetic encephalopathy False False False -GARD:17583 Intellectual disability-brachydactyly-Pierre Robin syndrome False False False -GARD:17584 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome False False False -GARD:17585 Congenital neutropenia-myelofibrosis-nephromegaly syndrome False False False -GARD:17586 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome False False False -GARD:17587 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C False False False -GARD:17588 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency False False False -GARD:17589 Combined oxidative phosphorylation defect type 17 False False False -GARD:17590 Pontocerebellar hypoplasia type 9 False False False -GARD:17591 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome False False False -GARD:17592 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome False False False -GARD:17593 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome False False False -GARD:17594 Severe dermatitis-multiple allergies-metabolic wasting syndrome False False False -GARD:17595 Diffuse palmoplantar keratoderma with painful fissures False False False -GARD:17596 Focal palmoplantar keratoderma with joint keratoses False False False -GARD:17597 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome False False False -GARD:17598 Oculocutaneous albinism type 5 False False False -GARD:17599 Oculocutaneous albinism type 6 False False False -GARD:176 Macrophagic myofasciitis False False False -GARD:17600 Extraskeletal Ewing sarcoma False False False -GARD:17601 Peripheral primitive neuroectodermal tumor False False False -GARD:17602 STT3A-CDG False False False -GARD:17603 STT3B-CDG False False False -GARD:17604 Autism spectrum disorder-epilepsy-arthrogryposis syndrome False False False -GARD:17605 Congenital muscular dystrophy with cerebellar involvement False False False -GARD:17606 Congenital muscular dystrophy with intellectual disability False False False -GARD:17607 Congenital muscular dystrophy without intellectual disability False False False -GARD:17608 Muscle-eye-brain disease with bilateral multicystic leucodystrophy False False False -GARD:17609 Hypotonia-speech impairment-severe cognitive delay syndrome False False False -GARD:17610 Multicentric osteolysis-nodulosis-arthropathy spectrum False False False -GARD:17611 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome False False False -GARD:17612 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency False False False -GARD:17613 East Texas bleeding disorder False False False -GARD:17614 X-linked osteoporosis with fractures False False False -GARD:17615 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome False False False -GARD:17616 SURF1-related Charcot-Marie-Tooth disease type 4 False False False -GARD:17617 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome False False False -GARD:17618 Familial episodic pain syndrome with predominantly upper body involvement False False False -GARD:17619 Familial episodic pain syndrome with predominantly lower limb involvement False False False -GARD:17620 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome False False False -GARD:17621 Atypical juvenile parkinsonism False False False -GARD:17622 HSD10 disease, infantile type False False False -GARD:17623 HSD10 disease, neonatal type False False False -GARD:17624 Feingold syndrome type 1 False False False -GARD:17625 Feingold syndrome type 2 False False False -GARD:17626 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type False False False -GARD:17627 Multiple acyl-CoA dehydrogenase deficiency, mild type False False False -GARD:17628 Silver-Russell syndrome due to a point mutation False False False -GARD:17629 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency False False False -GARD:17630 Macrocephaly-developmental delay syndrome False False False -GARD:17631 Obesity due to CEP19 deficiency False False False -GARD:17632 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome False False False -GARD:17633 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome False False False -GARD:17634 Familial hyperprolactinemia False False False -GARD:17635 Hereditary isolated aplastic anemia False False False -GARD:17636 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome False False False -GARD:17637 Joubert syndrome with Jeune asphyxiating thoracic dystrophy False False False -GARD:17638 Autosomal dominant Charcot-Marie-Tooth disease type 2U False False False -GARD:17639 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome False False False -GARD:17640 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies False False False -GARD:17641 Severe combined immunodeficiency due to IKK2 deficiency False False False -GARD:17642 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome False False False -GARD:17643 Polyglucosan body myopathy type 1 False False False -GARD:17644 Autosomal spastic paraplegia type 58 False False False -GARD:17645 Microcephaly-thin corpus callosum-intellectual disability syndrome False False False -GARD:17646 TCR-alpha-beta-positive T-cell deficiency False False False -GARD:17647 Combined immunodeficiency due to MALT1 deficiency False False False -GARD:17648 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome False False False -GARD:17649 Focal facial dermal dysplasia type II False False False -GARD:17650 Focal facial dermal dysplasia type IV False False False -GARD:17651 Alpha-B crystallin-related late-onset myopathy False False False -GARD:17652 Finnish upper limb-onset distal myopathy False False False -GARD:17653 Distal anoctaminopathy False False False -GARD:17654 Male infertility with teratozoospermia due to single gene mutation False False False -GARD:17655 Pancytopenia-developmental delay syndrome False False False -GARD:17656 Autosomal recessive spastic paraplegia type 61 False False False -GARD:17657 Autosomal recessive spastic paraplegia type 62 False False False -GARD:17658 Autosomal recessive spastic paraplegia type 63 False False False -GARD:17659 Autosomal recessive spastic paraplegia type 64 False False False -GARD:17660 Autosomal spastic paraplegia type 72 False False False -GARD:17661 Multiple mitochondrial dysfunctions syndrome type 1 False False False -GARD:17662 Multiple mitochondrial dysfunctions syndrome type 2 False False False -GARD:17663 Familial median cleft of the upper and lower lips False False False -GARD:17664 Moyamoya disease with early-onset achalasia False False False -GARD:17665 Episodic ataxia with slurred speech False False False -GARD:17666 MEND syndrome False False False -GARD:17667 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type False False False -GARD:17668 1p31p32 microdeletion syndrome False False False -GARD:17669 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering False False False -GARD:17670 Familial bicuspid aortic valve False False False -GARD:17671 Progressive myoclonic epilepsy type 5 False False False -GARD:17672 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome False False False -GARD:17673 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency False False False -GARD:17674 Tatton-Brown-Rahman syndrome False False False -GARD:17675 Female infertility due to zona pellucida defect False False False -GARD:17676 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome False False False -GARD:17677 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency False False False -GARD:17678 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency False False False -GARD:17679 DITRA False False False -GARD:17680 Pontocerebellar hypoplasia type 10 False False False -GARD:17681 Mild phosphoribosylpyrophosphate synthetase superactivity False False False -GARD:17682 Severe phosphoribosylpyrophosphate synthetase superactivity False False False -GARD:17683 Wolfram-like syndrome False False False -GARD:17684 Hereditary late-onset Parkinson disease False False False -GARD:17685 Juvenile nephropathic cystinosis False False False -GARD:17686 Maternal riboflavin deficiency False False False -GARD:17687 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome False False False -GARD:17688 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome False False False -GARD:17689 Autosomal recessive cerebellar ataxia due to STUB1 deficiency False False False -GARD:17690 Epidermolysis bullosa simplex due to BP230 deficiency False False False -GARD:17691 Epidermolysis bullosa simplex due to exophilin 5 deficiency False False False -GARD:17692 Primary failure of tooth eruption False False False -GARD:17693 Cranio-cervical dystonia with laryngeal and upper-limb involvement False False False -GARD:17694 Adult-onset cervical dystonia, DYT23 type False False False -GARD:17695 Bleeding disorder due to CalDAG-GEFI deficiency False False False -GARD:17696 Severe combined immunodeficiency due to CTPS1 deficiency False False False -GARD:17697 Woolly hair-palmoplantar keratoderma syndrome False False False -GARD:17698 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency False False False -GARD:17699 Combined oxidative phosphorylation defect type 20 False False False -GARD:177 Macrosomia-microphthalmia-cleft palate syndrome False False False -GARD:17700 Combined oxidative phosphorylation defect type 21 False False False -GARD:17701 RIDDLE syndrome False False False -GARD:17702 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency False False False -GARD:17703 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome False False False -GARD:17704 Mucolipidosis type III alpha/beta False False False -GARD:17705 Mucolipidosis type III gamma False False False -GARD:17706 Progressive myoclonic epilepsy type 8 False False False -GARD:17707 Colobomatous microphthalmia-rhizomelic dysplasia syndrome False False False -GARD:17708 TOR1AIP1-related limb-girdle muscular dystrophy False False False -GARD:17709 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome False False False -GARD:17710 Combined immunodeficiency due to OX40 deficiency False False False -GARD:17711 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection False False False -GARD:17712 Autosomal recessive spastic paraplegia type 57 False False False -GARD:17713 Familial ossifying fibroma False False False -GARD:17714 Autosomal dominant Charcot-Marie-Tooth disease type 2Y False False False -GARD:17715 Progressive myoclonic epilepsy type 7 False False False -GARD:17716 Keppen-Lubinsky syndrome False False False -GARD:17717 Short stature-advanced bone age-early-onset osteoarthritis syndrome False False False -GARD:17718 Lethal neonatal spasticity-epileptic encephalopathy syndrome False False False -GARD:17719 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome False False False -GARD:17720 COG2-CDG False False False -GARD:17721 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome False False False -GARD:17722 Progeroid features-hepatocellular carcinoma predisposition syndrome False False False -GARD:17723 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D False False False -GARD:17724 Intellectual disability-expressive aphasia-facial dysmorphism syndrome False False False -GARD:17725 Periodic fever-infantile enterocolitis-autoinflammatory syndrome False False False -GARD:17726 Thrombomodulin-related bleeding disorder False False False -GARD:17727 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome False False False -GARD:17728 Microcephalic primordial dwarfism-insulin resistance syndrome False False False -GARD:17729 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease False False False -GARD:17730 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome False False False -GARD:17731 Combined immunodeficiency-enteropathy spectrum False False False -GARD:17732 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity False False False -GARD:17733 Ketoacidosis due to monocarboxylate transporter-1 deficiency False False False -GARD:17734 RARS-related autosomal recessive hypomyelinating leukodystrophy False False False -GARD:17735 Steel syndrome False False False -GARD:17736 PCNA-related progressive neurodegenerative photosensitivity syndrome False False False -GARD:17737 STAT3-related early-onset multisystem autoimmune disease False False False -GARD:17738 Severe autosomal recessive macrothrombocytopenia False False False -GARD:17739 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome False False False -GARD:17740 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation False False False -GARD:17741 ITM2B amyloidosis False False False -GARD:17742 PDE4D haploinsufficiency syndrome False False False -GARD:17743 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome False False False -GARD:17744 Interstitial lung disease due to SP-C deficiency False False False -GARD:17745 Interstitial lung disease due to ABCA3 deficiency False False False -GARD:17746 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency False False False -GARD:17747 Ribose-5-P isomerase deficiency False False False -GARD:17748 L-ferritin deficiency False False False -GARD:17749 Sporadic porphyria cutanea tarda False False False -GARD:17750 Familial porphyria cutanea tarda False False False -GARD:17751 Charcot-Marie-Tooth disease type 2S False False False -GARD:17752 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency False False False -GARD:17753 Hyperostosis cranialis interna False False False -GARD:17754 Classic stiff person syndrome False False False -GARD:17755 X-linked erythropoietic protoporphyria False False False -GARD:17756 Focal stiff limb syndrome False False False -GARD:17757 Ventriculomegaly-cystic kidney disease False False False -GARD:17758 Mandibulofacial dysostosis with alopecia False False False -GARD:17759 Combined oxidative phosphorylation defect type 23 False False False -GARD:17760 46,XX ovarian dysgenesis-short stature syndrome False False False -GARD:17761 Cerebellar-facial-dental syndrome False False False -GARD:17762 Autoimmune interstitial lung disease-arthritis syndrome False False False -GARD:17763 Autosomal dominant spastic paraplegia type 73 False False False -GARD:17764 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome False False False -GARD:17765 Combined oxidative phosphorylation defect type 24 False False False -GARD:17766 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome False False False -GARD:17767 3-methylglutaconic aciduria type 7 False False False -GARD:17768 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome False False False -GARD:17769 Limb-girdle muscular dystrophy due to POMK deficiency False False False -GARD:17770 Autosomal recessive spastic paraplegia type 9B False False False -GARD:17771 Mitochondrial pyruvate carrier deficiency False False False -GARD:17772 Polymerase proofreading-related adenomatous polyposis False False False -GARD:17773 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome False False False -GARD:17774 Tremor-ataxia-central hypomyelination syndrome False False False -GARD:17775 Combined oxidative phosphorylation defect type 25 False False False -GARD:17776 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome False False False -GARD:17777 Autosomal dominant Charcot-Marie-Tooth disease type 2V False False False -GARD:17778 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome False False False -GARD:17779 Progressive scapulohumeroperoneal distal myopathy False False False -GARD:17780 Progressive autosomal recessive ataxia-deafness syndrome False False False -GARD:17781 Isolated focal non-epidermolytic palmoplantar keratoderma False False False -GARD:17782 Regressive spondylometaphyseal dysplasia False False False -GARD:17783 Symptomatic form of fragile X syndrome in female carriers False False False -GARD:17784 Familial congenital nasolacrimal duct obstruction False False False -GARD:17785 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome False False False -GARD:17786 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency False False False -GARD:17787 Polyendocrine-polyneuropathy syndrome False False False -GARD:17788 Acquired Creutzfeldt-Jakob disease False False False -GARD:17789 Pleomorphic salivary gland adenoma False False False -GARD:17790 NTHL1-related attenuated familial adenomatous polyposis False False False -GARD:17791 Infantile multisystem neurologic-endocrine-pancreatic disease False False False -GARD:17792 X-linked myotubular myopathy-abnormal genitalia syndrome False False False -GARD:17793 Polyglucosan body myopathy type 2 False False False -GARD:17794 Autosomal dominant mitochondrial myopathy with exercise intolerance False False False -GARD:17795 Predisposition to invasive fungal disease due to CARD9 deficiency False False False -GARD:17796 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome False False False -GARD:17797 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome False False False -GARD:17798 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome False False False -GARD:17799 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect False False False -GARD:178 MOMO syndrome False False False -GARD:17800 X-linked intellectual disability-short stature-overweight syndrome False False False -GARD:17801 Progressive myoclonic epilepsy type 9 False False False -GARD:17802 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome False False False -GARD:17803 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome False False False -GARD:17804 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome False False False -GARD:17805 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome False False False -GARD:17806 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement False False False -GARD:17807 Complex lethal osteochondrodysplasia False False False -GARD:17808 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome False False False -GARD:17809 Multiple mitochondrial dysfunctions syndrome type 4 False False False -GARD:17810 Spinocerebellar ataxia type 41 False False False -GARD:17811 Spinocerebellar ataxia type 42 False False False -GARD:17812 Spondyloepiphyseal dysplasia, Stanescu type False False False -GARD:17813 Autosomal recessive spastic paraplegia type 75 False False False -GARD:17814 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome False False False -GARD:17815 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome False False False -GARD:17816 Spastic paraplegia-severe developmental delay-epilepsy syndrome False False False -GARD:17817 Short stature-brachydactyly-obesity-global developmental delay syndrome False False False -GARD:17818 NEK9-related lethal skeletal dysplasia False False False -GARD:17819 Primary dystonia, DYT27 type False False False -GARD:17820 Fever-associated acute infantile liver failure syndrome False False False -GARD:17821 Basel-Vanagaite-Smirin-Yosef syndrome False False False -GARD:17822 Familial cavitary optic disc anomaly False False False -GARD:17823 Fetal encasement syndrome False False False -GARD:17824 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome False False False -GARD:17825 TMEM199-CDG False False False -GARD:17826 Martinique crinkled retinal pigment epitheliopathy False False False -GARD:17827 Autosomal recessive spastic paraplegia type 77 False False False -GARD:17828 Familial patent arterial duct False False False -GARD:17829 Autosomal dominant Charcot-Marie-Tooth disease type 2Z False False False -GARD:17830 Autosomal recessive Charcot-Marie-Tooth disease type 2X False False False -GARD:17831 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect False False False -GARD:17832 Macrocephaly-intellectual disability-left ventricular non compaction syndrome False False False -GARD:17833 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome False False False -GARD:17834 LIMS2-related limb-girdle muscular dystrophy False False False -GARD:17835 Autosomal dominant thrombocytopenia with platelet secretion defect False False False -GARD:17836 Seizures-scoliosis-macrocephaly syndrome False False False -GARD:17837 VPS11-related autosomal recessive hypomyelinating leukodystrophy False False False -GARD:17838 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome False False False -GARD:17839 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation False False False -GARD:17840 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome False False False -GARD:17841 Microcephalic cortical malformations-short stature due to RTTN deficiency False False False -GARD:17842 Autosomal recessive spastic paraplegia type 74 False False False -GARD:17843 Isolated generalized anhidrosis with normal sweat glands False False False -GARD:17844 Colobomatous macrophthalmia-microcornea syndrome False False False -GARD:17845 CCDC115-CDG False False False -GARD:17846 SLC39A8-CDG False False False -GARD:17847 BVES-related limb-girdle muscular dystrophy False False False -GARD:17848 Hereditary pediatric Behçet-like disease False False False -GARD:17849 Combined immunodeficiency due to TFRC deficiency False False False -GARD:17850 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome False False False -GARD:17851 PMP2-related Charcot-Marie-Tooth disease type 1 False False False -GARD:17852 IL21-related infantile inflammatory bowel disease False False False -GARD:17853 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome False False False -GARD:17854 Combined oxidative phosphorylation defect type 26 False False False -GARD:17855 Pontine autosomal dominant microangiopathy with leukoencephalopathy False False False -GARD:17856 Combined oxidative phosphorylation defect type 27 False False False -GARD:17857 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder False False False -GARD:17858 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome False False False -GARD:17859 PMP22-RAI1 contiguous gene duplication syndrome False False False -GARD:17860 Kosaki overgrowth syndrome False False False -GARD:17861 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency False False False -GARD:17862 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome False False False -GARD:17863 Combined oxidative phosphorylation defect type 29 False False False -GARD:17864 Combined oxidative phosphorylation defect type 30 False False False -GARD:17865 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome False False False -GARD:17866 Hereditary sensory and autonomic neuropathy type 8 False False False -GARD:17867 Progressive familial intrahepatic cholestasis type 5 False False False -GARD:17868 MSH3-related attenuated familial adenomatous polyposis False False False -GARD:17869 POGLUT1-related limb-girdle muscular dystrophy R21 False False False -GARD:17870 Hereditary thrombocytopenia with early-onset myelofibrosis False False False -GARD:17871 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome False False False -GARD:17872 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome False False False -GARD:17873 PYCR2-related microcephaly-progressive leukoencephalopathy False False False -GARD:17874 Familial Chilblain lupus False False False -GARD:17875 USP18 deficiency False False False -GARD:17876 Familial schizencephaly False False False -GARD:17877 HTRA1-related autosomal dominant cerebral small vessel disease False False False -GARD:17878 Adenylosuccinate synthetase-like 1-related distal myopathy False False False -GARD:17879 Acquired schizencephaly False False False -GARD:17880 CLCN4-related X-linked intellectual disability syndrome False False False -GARD:17881 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect False False False -GARD:17882 Prenatal-onset spinal muscular atrophy with congenital bone fractures False False False -GARD:17883 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome False False False -GARD:17884 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome False False False -GARD:17885 Pierpont syndrome False False False -GARD:17886 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome False False False -GARD:17887 Female infertility due to oocyte meiotic arrest False False False -GARD:17888 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome False False False -GARD:17889 Split-foot malformation-mesoaxial polydactyly syndrome False False False -GARD:17890 14q32 duplication syndrome False False False -GARD:17891 Autosomal dominant Charcot-Marie-Tooth disease type 2W False False False -GARD:17892 Autosomal recessive spastic paraplegia type 76 False False False -GARD:17893 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome False False False -GARD:17894 Transketolase deficiency False False False -GARD:17895 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome False False False -GARD:17896 TBCK-related intellectual disability syndrome False False False -GARD:17897 Early-onset epilepsy-intellectual disability-brain anomalies syndrome False False False -GARD:17898 TELO2-related intellectual disability-neurodevelopmental disorder False False False -GARD:17899 DDX41-related hematologic malignancy predisposition syndrome False False False -GARD:17900 Distal myopathy, Tateyama type False False False -GARD:17901 Vibratory angioedema False False False -GARD:17902 RERE-related neurodevelopmental syndrome False False False -GARD:17903 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome False False False -GARD:17904 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome False False False -GARD:17905 Infantile-onset generalized dyskinesia with orofacial involvement False False False -GARD:17906 Childhood-onset benign chorea with striatal involvement False False False -GARD:17907 Squamous cell carcinoma of the hypopharynx False False False -GARD:17908 Squamous cell carcinoma of the larynx False False False -GARD:17909 Charcot-Marie-Tooth disease type 2T False False False -GARD:17910 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy False False False -GARD:17911 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome False False False -GARD:17912 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome False False False -GARD:17913 EVEN-plus syndrome False False False -GARD:17914 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome False False False -GARD:17915 Ocular anomalies-axonal neuropathy-developmental delay syndrome False False False -GARD:17916 MME-related autosomal dominant Charcot Marie Tooth disease type 2 False False False -GARD:17917 Spinocerebellar ataxia type 43 False False False -GARD:17918 Childhood-onset basal ganglia degeneration syndrome False False False -GARD:17919 Short rib-polydactyly syndrome type 5 False False False -GARD:17920 16p13.2 microdeletion syndrome False False False -GARD:17921 Tall stature-intellectual disability-renal anomalies syndrome False False False -GARD:17922 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome False False False -GARD:17923 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome False False False -GARD:17924 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom False False False -GARD:17925 SIN3A-related intellectual disability syndrome due to a point mutation False False False -GARD:17926 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome False False False -GARD:17927 Squamous cell carcinoma of the nasal cavity and paranasal sinuses False False False -GARD:17928 Squamous cell carcinoma of the oropharynx False False False -GARD:17929 Squamous cell carcinoma of salivary glands False False False -GARD:17930 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract False False False -GARD:17931 Osteosclerotic metaphyseal dysplasia False False False -GARD:17932 Squamous cell carcinoma of the oral cavity False False False -GARD:17933 Squamous cell carcinoma of the lip False False False -GARD:17934 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome False False False -GARD:17935 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome False False False -GARD:17936 Alkaline ceramidase 3 deficiency False False False -GARD:17937 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome False False False -GARD:17938 Severe combined immunodeficiency due to LAT deficiency False False False -GARD:17939 Combined immunodeficiency due to Moesin deficiency False False False -GARD:17940 3-methylglutaconic aciduria type 9 False False False -GARD:17941 Combined immunodeficiency due to GINS1 deficiency False False False -GARD:17942 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome False False False -GARD:17943 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome False False False -GARD:17944 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders False False False -GARD:17945 Stromme syndrome False False False -GARD:17946 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction False False False -GARD:17947 Gabriele-de Vries syndrome False False False -GARD:17948 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome False False False -GARD:17949 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome False False False -GARD:17950 Hyperphenylalaninemia due to DNAJC12 deficiency False False False -GARD:17951 Intermediate epidermolysis bullosa simplex with cardiomyopathy False False False -GARD:17952 Autosomal recessive spastic paraplegia type 78 False False False -GARD:17953 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome False False False -GARD:17954 Autosomal recessive anterior segment dysgenesis False False False -GARD:17955 Xq25 microduplication syndrome False False False -GARD:17956 Proximal myopathy with focal depletion of mitochondria False False False -GARD:17957 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome False False False -GARD:17958 Dystonia-parkinsonism-hypermanganesemia syndrome False False False -GARD:17959 Autosomal dominant Charcot-Marie-Tooth disease type 2DD False False False -GARD:17960 PLAA-associated neurodevelopmental disorder False False False -GARD:17961 Congenital vertebral-cardiac-renal anomalies syndrome False False False -GARD:17962 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome False False False -GARD:17963 Severe myopia-generalized joint laxity-short stature syndrome False False False -GARD:17964 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy False False False -GARD:17965 Non-specific syndromic intellectual disability False False False -GARD:17966 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome False False False -GARD:17967 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome False False False -GARD:17968 Duane retraction syndrome with congenital deafness False False False -GARD:17969 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome False False False -GARD:17970 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome False False False -GARD:17971 Male infertility due to acephalic spermatozoa False False False -GARD:17972 Mixed phenotype acute leukemia False False False -GARD:17973 Familial GPIHBP1 deficiency False False False -GARD:17974 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome False False False -GARD:17975 Classical-like Ehlers-Danlos syndrome type 2 False False False -GARD:17976 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy False False False -GARD:17977 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome False False False -GARD:17978 Combined immunodeficiency due to CD70 deficiency False False False -GARD:17979 Combined immunodeficiency due to ITK deficiency False False False -GARD:17980 Growth delay-intellectual disability-hepatopathy syndrome False False False -GARD:17981 Combined immunodeficiency due to CARMIL2 deficiency False False False -GARD:17982 GNB5-related intellectual disability-cardiac arrhythmia syndrome False False False -GARD:17983 Auditory neuropathy-optic atrophy syndrome False False False -GARD:17984 Isolated hyperchlorhidrosis False False False -GARD:17985 PRUNE1-related neurological syndrome False False False -GARD:17986 Atypical hemolytic uremic syndrome with complement gene abnormality False False False -GARD:17987 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome False False False -GARD:17988 RNF13-related severe early-onset epileptic encephalopathy False False False -GARD:17989 Congenital myopathy with reduced type 2 muscle fibers False False False -GARD:17990 NAD(P)HX dehydratase deficiency False False False -GARD:17991 NAD(P)HX epimerase deficiency False False False -GARD:17992 Pancreatic agenesis-holoprosencephaly syndrome False False False -GARD:17993 Oculocerebrodental syndrome False False False -GARD:17994 Neonatal epileptic encephalopathy due to glutaminase deficiency False False False -GARD:17995 Heme oxygenase-1 deficiency False False False -GARD:17996 Autosomal recessive extra-oral halitosis False False False -GARD:17997 Anterior maxillary protrusion-strabismus-intellectual disability syndrome False False False -GARD:17998 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome False False False -GARD:17999 Combined oxidative phosphorylation defect type 39 False False False -GARD:180 MYH9-related disease False False False -GARD:18000 Infantile inflammatory bowel disease with neurological involvement False False False -GARD:18001 Craniosynostosis-microretrognathia-severe intellectual disability syndrome False False False -GARD:18002 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta False False False -GARD:18003 Idiopathic steroid-resistant nephrotic syndrome False False False -GARD:18004 Multiple mitochondrial dysfunctions syndrome type 6 False False False -GARD:18005 Galactose mutarotase deficiency False False False -GARD:18006 QRSL1-related combined oxidative phosphorylation defect False False False -GARD:18007 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome False False False -GARD:18008 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 False False False -GARD:18009 Brachydactyly type B1 False False False -GARD:18010 RFVT2-related riboflavin transporter deficiency False False False -GARD:18011 Microcephaly-micromelia syndrome False False False -GARD:18012 WARS2-related combined oxidative phosphorylation defect False False False -GARD:18013 SATB2-associated syndrome due to a pathogenic variant False False False -GARD:18014 NLRC4-related familial cold autoinflammatory syndrome False False False -GARD:18015 QRICH1-related intellectual disability-chondrodysplasia syndrome False False False -GARD:18016 Spondylometaphyseal dysplasia-corneal dystrophy syndrome False False False -GARD:18017 Oculocutaneous albinism type 8 False False False -GARD:18018 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome False False False -GARD:18019 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome False False False -GARD:1802 Demodicidosis False False False -GARD:18020 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome False False False -GARD:18021 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome False False False -GARD:18022 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome False False False -GARD:18023 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome False False False -GARD:18024 Oculogastrointestinal-neurodevelopmental syndrome False False False -GARD:18025 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome False False False -GARD:18026 Aplastic anemia-intellectual disability-dwarfism syndrome False False False -GARD:18027 EN1-related dorsoventral syndrome False False False -GARD:18028 Parkinsonism with polyneuropathy False False False -GARD:18029 Pontocerebellar hypoplasia type 11 False False False -GARD:18030 Pontocerebellar hypoplasia type 12 False False False -GARD:18031 Pontocerebellar hypoplasia type 13 False False False -GARD:18032 Pontocerebellar hypoplasia type 14 False False False -GARD:18033 Spastic paraparesis-cataracts-speech delay syndrome False False False -GARD:18034 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome False False False -GARD:18035 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate False False False -GARD:18036 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation False False False -GARD:18037 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster False False False -GARD:18038 Lipodystrophy, familial partial, type 7 False False False -GARD:18039 Ovarian dysgenesis 1 False False False -GARD:1804 Dent disease type 1 False False False -GARD:18040 Ovarian dysgenesis 2 False False False -GARD:18041 Ovarian dysgenesis 3 False False False -GARD:18042 Ovarian dysgenesis 6 False False False -GARD:18043 Ovarian dysgenesis 7 False False False -GARD:18044 Premature ovarian failure 16 False False False -GARD:18045 Craniosynostosis 1 False False False -GARD:18046 Craniosynostosis 5, susceptibility to False False False -GARD:18047 Craniosynostosis 3 False False False -GARD:18048 Craniosynostosis 6 False False False -GARD:18049 Cornea plana 1, autosomal dominant False False False -GARD:18050 Cornea plana 2, autosomal recessive False False False -GARD:18051 Parietal foramina 1 False False False -GARD:18052 Parietal foramina 3 False False False -GARD:18053 Parietal foramina 2 False False False -GARD:18054 Bronchiectasis with or without elevated sweat chloride 1 False False False -GARD:18055 Bronchiectasis with or without elevated sweat chloride 2 False False False -GARD:18056 Bronchiectasis with or without elevated sweat chloride 3 False False False -GARD:18057 Epilepsy, childhood absence, susceptibility to, 1 False False False -GARD:18058 Febrile seizures, familial, 8 False False False -GARD:18059 Epilepsy, idiopathic generalized, susceptibility to, 13 False False False -GARD:1806 Dentin dysplasia type II False False False -GARD:18060 Epilepsy, childhood absence, susceptibility to, 6 False False False -GARD:18061 Epilepsy, childhood absence, susceptibility to, 5 False False False -GARD:18062 Ectodermal dysplasia 4, hair/nail type False False False -GARD:18063 Ectodermal dysplasia 5, hair/nail type False False False -GARD:18064 Ectodermal dysplasia 6, hair/nail type False False False -GARD:18065 Ectodermal dysplasia 7, hair/nail type False False False -GARD:18066 Ectodermal dysplasia 9, hair/nail type False False False -GARD:18067 Mitochondrial complex i deficiency, nuclear type 32 False False False -GARD:18068 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 False False False -GARD:18069 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 False False False -GARD:1807 Dentin dysplasia type I False False False -GARD:18070 Cardiomyopathy, familial restrictive, 1 False False False -GARD:18071 Cardiomyopathy, familial restrictive, 2 False False False -GARD:18072 Cardiomyopathy, familial restrictive, 3 False False False -GARD:18073 Hyperpigmentation with or without hypopigmentation, familial progressive False False False -GARD:18074 Hyperpigmentation, familial progressive, 1 False False False -GARD:18075 Hyperalphalipoproteinemia 1 False False False -GARD:18076 Apolipoprotein c-iii deficiency False False False -GARD:18077 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 False False False -GARD:18078 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 False False False -GARD:18079 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 False False False -GARD:1808 Dentin dysplasia-sclerotic bones syndrome False False False -GARD:18080 Nephronophthisis 11 False False False -GARD:18081 Nephronophthisis 19 False False False -GARD:18082 Epilepsy, familial adult myoclonic, 1 False False False -GARD:18083 Epilepsy, familial adult myoclonic, 2 False False False -GARD:18084 Epilepsy, familial adult myoclonic, 3 False False False -GARD:18085 Epilepsy, familial adult myoclonic, 4 False False False -GARD:18086 Epilepsy, familial adult myoclonic, 5 False False False -GARD:18087 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism False False False -GARD:18088 Leukodystrophy, hypomyelinating, 11 False False False -GARD:18089 Hemolytic anemia due to glutathione reductase deficiency False False False -GARD:18090 Hydrocephalus, congenital communicating, 1 False False False -GARD:18091 Neuropathy, hereditary motor and sensory, type via, with optic atrophy False False False -GARD:18092 Neuropathy, hereditary motor and sensory, type vib, with optic atrophy False False False -GARD:18093 Hypotrichosis 2 False False False -GARD:18094 Hypotrichosis 3 False False False -GARD:18095 Deafness, x-linked 3 False False False -GARD:18096 Deafness, x-linked 4 False False False -GARD:18097 Deafness, x-linked 6 False False False -GARD:18098 Deafness, x-linked 1 False False False -GARD:18099 Deafness, autosomal dominant 2a False False False -GARD:181 Stargardt disease False False False -GARD:1810 Radioulnar synostosis-developmental delay-hypotonia syndrome False False False -GARD:18100 Deafness, autosomal dominant 4a False False False -GARD:18101 Deafness, autosomal dominant 6 False False False -GARD:18102 Deafness, autosomal dominant 5 False False False -GARD:18103 Deafness, autosomal dominant 10 False False False -GARD:18104 Deafness, autosomal dominant 11 False False False -GARD:18105 Deafness, autosomal dominant 9 False False False -GARD:18106 Deafness, autosomal dominant 7 False False False -GARD:18107 Deafness, autosomal dominant 12 False False False -GARD:18108 Deafness, autosomal dominant 13 False False False -GARD:18109 Deafness, autosomal dominant 15 False False False -GARD:18110 Deafness, autosomal dominant 16 False False False -GARD:18111 Deafness, autosomal dominant 20 False False False -GARD:18112 Deafness, autosomal dominant 25 False False False -GARD:18113 Deafness, autosomal dominant 18 False False False -GARD:18114 Deafness, autosomal dominant 30 False False False -GARD:18115 Deafness, autosomal dominant 36 False False False -GARD:18116 Deafness, autosomal dominant 21 False False False -GARD:18117 Deafness, autosomal recessive False False False -GARD:18118 Deafness, autosomal dominant 44 False False False -GARD:18119 Deafness, autosomal dominant 52 False False False -GARD:18120 Deafness, autosomal dominant 48 False False False -GARD:18121 Deafness, autosomal dominant 41 False False False -GARD:18122 Deafness, autosomal dominant 49 False False False -GARD:18123 Deafness, autosomal dominant 43 False False False -GARD:18124 Deafness, autosomal dominant 28 False False False -GARD:18125 Deafness, autosomal dominant 31 False False False -GARD:18126 Deafness, autosomal dominant 47 False False False -GARD:18127 Auditory neuropathy, autosomal dominant 1 False False False -GARD:18128 Deafness, autosomal dominant 27 False False False -GARD:18129 Deafness, autosomal dominant 59 False False False -GARD:1813 Dermatoleukodystrophy False False False -GARD:18130 Deafness, autosomal dominant 3b False False False -GARD:18131 Deafness, autosomal dominant 2b False False False -GARD:18132 Deafness, autosomal dominant 50 False False False -GARD:18133 Deafness, autosomal dominant 51 False False False -GARD:18134 Deafness, autosomal dominant 64 False False False -GARD:18135 Deafness, autosomal dominant 33 False False False -GARD:18136 Deafness, autosomal dominant 4b False False False -GARD:18137 Deafness, autosomal dominant 56 False False False -GARD:18138 Deafness, autosomal dominant 54 False False False -GARD:18139 Deafness, autosomal dominant 58 False False False -GARD:1814 Dermatoosteolysis, Kirghizian type False False False -GARD:18140 Deafness, autosomal dominant 65 False False False -GARD:18141 Deafness, autosomal dominant 67 False False False -GARD:18142 Deafness, autosomal dominant 40 False False False -GARD:18143 Deafness, autosomal dominant 69 False False False -GARD:18144 Deafness, autosomal dominant 68 False False False -GARD:18145 Deafness, autosomal dominant 70 False False False -GARD:18146 Deafness, autosomal dominant 66 False False False -GARD:18147 Deafness, autosomal dominant 71 False False False -GARD:18148 Deafness, autosomal dominant 72 False False False -GARD:18149 Deafness, autosomal dominant 73 False False False -GARD:1815 Dermochondrocorneal dystrophy False False False -GARD:18150 Deafness, autosomal recessive 110 False False False -GARD:18151 Deafness, autosomal dominant 74 False False False -GARD:18152 Deafness, autosomal recessive 113 False False False -GARD:18153 Deafness, autosomal dominant 75 False False False -GARD:18154 Deafness, autosomal dominant 76 False False False -GARD:18155 Deafness, autosomal dominant 77 False False False -GARD:18156 Deafness, autosomal dominant 78 False False False -GARD:18157 Deafness, autosomal dominant 79 False False False -GARD:18158 Deafness, autosomal dominant 80 False False False -GARD:18159 Deafness, sensorineural, autosomal-mitochondrial type False False False -GARD:1816 Dermoodontodysplasia False False False -GARD:18160 Deafness, nonsyndromic sensorineural, mitochondrial False False False -GARD:18161 Deafness, aminoglycoside-induced False False False -GARD:18162 Ptosis, hereditary congenital 1 False False False -GARD:18163 Ptosis, hereditary congenital 2 False False False -GARD:18164 Fibrosis of extraocular muscles, congenital, 5 False False False -GARD:18165 Alacrima, congenital, autosomal dominant False False False -GARD:18166 Alacrima, congenital, autosomal recessive False False False -GARD:18167 Persistent hyperplastic primary vitreous, autosomal recessive False False False -GARD:18168 Persistent hyperplastic primary vitreous, autosomal dominant False False False -GARD:18169 Vitamin d-dependent rickets, type 2a False False False -GARD:18170 Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor False False False -GARD:18171 Vitamin d-dependent rickets, type 3 False False False -GARD:18172 Polydactyly, postaxial, type a5 False False False -GARD:18173 Polydactyly, postaxial, type a2 False False False -GARD:18174 Polydactyly, postaxial, type a3 False False False -GARD:18175 Polydactyly, postaxial, type a4 False False False -GARD:18176 Polydactyly, postaxial, type a6 False False False -GARD:18177 Polydactyly, postaxial, type a9 False False False -GARD:18178 Polydactyly, postaxial, type a10 False False False -GARD:18179 Nephronophthisis 3 False False False -GARD:1818 Desbuquois syndrome False False False -GARD:18180 Nephronophthisis-like nephropathy 1 False False False -GARD:18181 Nephronophthisis 20 False False False -GARD:18182 Nephronophthisis 2 False False False -GARD:18183 Nephronophthisis 16 False False False -GARD:18184 Hypospadias 3, autosomal False False False -GARD:18185 Hypospadias 1, x-linked False False False -GARD:18186 Hypospadias 2, x-linked False False False -GARD:18187 Hypospadias 4, x-linked, susceptibility to False False False -GARD:18188 Thyroid dyshormonogenesis 1 False False False -GARD:18189 Thyroid dyshormonogenesis 2a False False False -GARD:18190 Thyroid dyshormonogenesis 3 False False False -GARD:18191 Thyroid dyshormonogenesis 4 False False False -GARD:18192 Thyroid dyshormonogenesis 5 False False False -GARD:18193 Thyroid dyshormonogenesis 6 False False False -GARD:18194 Immunodeficiency 75 False False False -GARD:18195 Vitamin k-dependent clotting factors, combined deficiency of, 1 False False False -GARD:18196 Vitamin k-dependent clotting factors, combined deficiency of, 2 False False False -GARD:18197 Myopia, high, with cataract and vitreoretinal degeneration False False False -GARD:18198 Myopia 23, autosomal recessive False False False -GARD:18199 Optic atrophy 9 False False False -GARD:182 Best vitelliform macular dystrophy False False False -GARD:1820 Desmoid tumor False False False -GARD:18200 Optic atrophy 10 with or without ataxia, mental retardation, and seizures False False False -GARD:18201 Optic atrophy 11 False False False -GARD:18202 Epilepsy, familial focal, with variable foci 1 False False False -GARD:18203 Epilepsy, familial focal, with variable foci 2 False False False -GARD:18204 Epilepsy, familial focal, with variable foci 3 False False False -GARD:18205 Interstitial pneumonitis, desquamative, familial False False False -GARD:18206 Emery-dreifuss muscular dystrophy 4, autosomal dominant False False False -GARD:18207 Emery-dreifuss muscular dystrophy 5, autosomal dominant False False False -GARD:18208 Emery-dreifuss muscular dystrophy 7, autosomal dominant False False False -GARD:18209 Emery-dreifuss muscular dystrophy 3, autosomal recessive False False False -GARD:18210 Myasthenic syndrome, congenital, 5 False False False -GARD:18211 Guillain-barre syndrome, familial False False False -GARD:18212 Corneal dystrophy, posterior polymorphous, 1 False False False -GARD:18213 Corneal dystrophy, posterior polymorphous, 2 False False False -GARD:18214 Corneal dystrophy, posterior polymorphous, 3 False False False -GARD:18215 Corneal dystrophy, posterior polymorphous, 4 False False False -GARD:18216 Corneal dystrophy, fuchs endothelial, 1 False False False -GARD:18217 Corneal dystrophy, fuchs endothelial, 2 False False False -GARD:18218 Corneal dystrophy, fuchs endothelial, 3 False False False -GARD:18219 Corneal dystrophy, fuchs endothelial, 4 False False False -GARD:18220 Corneal dystrophy, fuchs endothelial, 5 False False False -GARD:18221 Corneal dystrophy, fuchs endothelial, 6 False False False -GARD:18222 Corneal dystrophy, fuchs endothelial, 7 False False False -GARD:18223 Corneal dystrophy, fuchs endothelial, 8 False False False -GARD:18224 Glaucoma 3, primary congenital, a False False False -GARD:18225 Glaucoma 3, primary congenital, c False False False -GARD:18226 Glaucoma 3, primary congenital, d False False False -GARD:18227 Glaucoma 3, primary congenital, e False False False -GARD:18228 Glaucoma 1, open angle, j False False False -GARD:18229 Glaucoma 1, open angle, k False False False -GARD:1823 Familial developmental dysphasia False False False -GARD:18230 Glaucoma 1, open angle, m False False False -GARD:18231 Glaucoma 1, open angle, n False False False -GARD:18232 Cataract 25 False False False -GARD:18233 Cataract 29 False False False -GARD:18234 Cataract 41 False False False -GARD:18235 Cataract 27 False False False -GARD:18236 Cataract 33, multiple types False False False -GARD:18237 Macular dystrophy, patterned, 1 False False False -GARD:18238 Macular dystrophy, patterned, 2 False False False -GARD:18239 Reticular dystrophy of retinal pigment epithelium False False False -GARD:18240 Retinal dystrophy, reticular pigmentary, of posterior pole False False False -GARD:18241 Retinal dystrophy with or without extraocular anomalies False False False -GARD:18242 Subaortic stenosis, membranous False False False -GARD:18243 Cleft soft palate False False False -GARD:18244 Tooth agenesis, selective, 1 False False False -GARD:18245 Tooth agenesis, selective, 4 False False False -GARD:18246 Tooth agenesis, selective, x-linked, 1 False False False -GARD:18247 Tooth agenesis, selective, 3 False False False -GARD:18248 Tooth agenesis, selective, 5 False False False -GARD:18249 Tooth agenesis, selective, 7 False False False -GARD:18250 Tooth agenesis, selective, 8 False False False -GARD:18251 Myoglobinuria, acute recurrent, autosomal recessive False False False -GARD:18252 Leukoencephalopathy, progressive, with ovarian failure False False False -GARD:18253 Hyperparathyroidism 1 False False False -GARD:18254 Hyperparathyroidism, primary, caused by water clear cell hyperplasia False False False -GARD:18255 Hyperparathyroidism 3 False False False -GARD:18256 Hyperparathyroidism 4 False False False -GARD:18257 Hypoparathyroidism, familial isolated, 2 False False False -GARD:18258 Amelogenesis imperfecta, type iiib False False False -GARD:18259 Angioedema induced by ace inhibitors, susceptibility to False False False -GARD:18260 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies False False False -GARD:18261 Diarrhea 8, secretory sodium, congenital False False False -GARD:18262 Neuronopathy, distal hereditary motor, type iia False False False -GARD:18263 Neuronopathy, distal hereditary motor, type iib False False False -GARD:18264 Neuronopathy, distal hereditary motor, type iic False False False -GARD:18265 Neuronopathy, distal hereditary motor, type iid False False False -GARD:18266 Neuronopathy, distal hereditary motor, type va False False False -GARD:18267 Neuronopathy, distal hereditary motor, type vb False False False -GARD:18268 Neuronopathy, distal hereditary motor, type vc False False False -GARD:18269 Neuronopathy, distal hereditary motor, type viia False False False -GARD:1827 Dextrocardia False False False -GARD:18270 Neuronopathy, distal hereditary motor, type viib False False False -GARD:18271 Macrothrombocytopenia, isolated, 1, autosomal dominant False False False -GARD:18272 Bleeding disorder, platelet-type, 15 False False False -GARD:18273 Bleeding disorder, platelet-type, 24 False False False -GARD:18274 Atresia of external auditory canal and conductive deafness False False False -GARD:18275 Aural atresia, congenital False False False -GARD:18276 Polyposis syndrome, hereditary mixed, 2 False False False -GARD:18277 Crisponi/cold-induced sweating syndrome 2 False False False -GARD:18278 Perching syndrome False False False -GARD:18279 Epilepsy, familial temporal lobe, 3 False False False -GARD:18280 Epilepsy, familial temporal lobe, 5 False False False -GARD:18281 Epilepsy, familial temporal lobe, 6 False False False -GARD:18282 Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked False False False -GARD:18283 Febrile seizures, familial, 11 False False False -GARD:18284 Sick sinus syndrome 2 False False False -GARD:18285 Sick sinus syndrome 3, susceptibility to False False False -GARD:18286 Epilepsy, hot water, 1 False False False -GARD:18287 Epilepsy, hot water, 2 False False False -GARD:18288 Thrombocytopenia 3 False False False -GARD:18289 Thrombocytopenia 4 False False False -GARD:18290 Complement component 7 deficiency False False False -GARD:18291 Complement component 6 deficiency False False False -GARD:18292 Complement component 9 deficiency False False False -GARD:18293 Immunodeficiency 104 False False False -GARD:18294 Immunodeficiency 25 False False False -GARD:18295 Immunodeficiency 18 False False False -GARD:18296 Immunodeficiency 19 False False False -GARD:18297 Rajab interstitial lung disease with brain calcifications 1 False False False -GARD:18298 Rajab interstitial lung disease with brain calcifications 2 False False False -GARD:18299 Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis False False False -GARD:18300 Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia False False False -GARD:18301 Hypercarotenemia and vitamin a deficiency, autosomal dominant False False False -GARD:18302 Hypercarotenemia and vitamin a deficiency, autosomal recessive False False False -GARD:18303 Orofacial cleft 11 False False False -GARD:18304 Orofacial cleft 6, susceptibility to False False False -GARD:18305 Orofacial cleft 5 False False False -GARD:18306 Orofacial cleft 10 False False False -GARD:18307 Orofacial cleft 15 False False False -GARD:18308 Orofacial cleft 8 False False False -GARD:18309 Cerebral palsy, spastic quadriplegic, 2 False False False -GARD:18310 Cerebral palsy, spastic quadriplegic, 3 False False False -GARD:18311 Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive False False False -GARD:18312 Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant False False False -GARD:18313 Cerebral cavernous malformations 2 False False False -GARD:18314 Cerebral cavernous malformations 3 False False False -GARD:18315 Striatonigral degeneration, infantile, mitochondrial False False False -GARD:18316 Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 False False False -GARD:18317 Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 False False False -GARD:18318 Rhabdoid tumor predisposition syndrome 1 False False False -GARD:18319 Rhabdoid tumor predisposition syndrome 2 False False False -GARD:18320 Aneurysm, intracranial berry, 1 False False False -GARD:18321 Aneurysm, intracranial berry, 5 False False False -GARD:18322 Aneurysm, intracranial berry, 3 False False False -GARD:18323 Aneurysm, intracranial berry, 4 False False False -GARD:18324 Aneurysm, intracranial berry, 6 False False False -GARD:18325 Aneurysm, intracranial berry, 7 False False False -GARD:18326 Aneurysm, intracranial berry, 8 False False False -GARD:18327 Aneurysm, intracranial berry, 9 False False False -GARD:18328 Aneurysm, intracranial berry, 10 False False False -GARD:18329 Aneurysm, intracranial berry, 11 False False False -GARD:18330 Aneurysm, intracranial berry, 12 False False False -GARD:18331 Hermansky-pudlak syndrome 1 False False False -GARD:18332 Hermansky-pudlak syndrome 4 False False False -GARD:18333 Hermansky-pudlak syndrome 3 False False False -GARD:18334 Hermansky-pudlak syndrome 5 False False False -GARD:18335 Hermansky-pudlak syndrome 6 False False False -GARD:18336 Hermansky-pudlak syndrome 7 False False False -GARD:18337 Hermansky-pudlak syndrome 8 False False False -GARD:18338 Hermansky-pudlak syndrome 9 False False False -GARD:18339 Hermansky-pudlak syndrome 11 False False False -GARD:18340 Hypercholanemia, familial 1 False False False -GARD:18341 Hypercholanemia, familial, 2 False False False -GARD:18342 Inflammatory bowel disease 25, autosomal recessive False False False -GARD:18343 Inflammatory bowel disease 28, autosomal recessive False False False -GARD:18344 Supranuclear palsy, progressive, 2 False False False -GARD:18345 Supranuclear palsy, progressive, 3 False False False -GARD:18346 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 False False False -GARD:18347 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 False False False -GARD:18348 Pontocerebellar hypoplasia, type 2e False False False -GARD:18349 Hyperphosphatasia with mental retardation syndrome 1 False False False -GARD:18350 Hyperphosphatasia with mental retardation syndrome 3 False False False -GARD:18351 Hyperphosphatasia with mental retardation syndrome 2 False False False -GARD:18352 Hyperphosphatasia with mental retardation syndrome 4 False False False -GARD:18353 Glycosylphosphatidylinositol biosynthesis defect 11 False False False -GARD:18354 Hyperphosphatasia with mental retardation syndrome 6 False False False -GARD:18355 Erythrocytosis, familial, 3 False False False -GARD:18356 Erythrocytosis, familial, 4 False False False -GARD:18357 Fibromatosis, gingival, 5 False False False -GARD:18358 Stickler syndrome, type iv False False False -GARD:18359 Stickler syndrome, type v False False False -GARD:18360 Testicular anomalies with or without congenital heart disease False False False -GARD:18361 46,xy sex reversal 9 False False False -GARD:18362 Mismatch repair cancer syndrome 2 False False False -GARD:18363 Mismatch repair cancer syndrome 3 False False False -GARD:18364 Mismatch repair cancer syndrome 4 False False False -GARD:18365 Hydatidiform mole, recurrent, 1 False False False -GARD:18366 Hydatidiform mole, recurrent, 2 False False False -GARD:18367 Hydatidiform mole, recurrent, 3 False False False -GARD:18368 Hydatidiform mole, recurrent, 4 False False False -GARD:18369 Mitochondrial dna depletion syndrome 2 (myopathic type) False False False -GARD:18370 Mitochondrial dna depletion syndrome 19 False False False -GARD:18371 Mitochondrial complex i deficiency, nuclear type 13 False False False -GARD:18372 Mitochondrial complex i deficiency, nuclear type 17 False False False -GARD:18373 Mitochondrial complex i deficiency, nuclear type 22 False False False -GARD:18374 Mitochondrial complex i deficiency, nuclear type 23 False False False -GARD:18375 Mitochondrial complex i deficiency, nuclear type 27 False False False -GARD:18376 Mitochondrial complex i deficiency, nuclear type 28 False False False -GARD:18377 Deafness, autosomal recessive 112 False False False -GARD:18378 Coenzyme q10 deficiency, primary, 1 False False False -GARD:18379 Coenzyme q10 deficiency, primary, 3 False False False -GARD:18380 Anemia, sideroblastic, 4 False False False -GARD:18381 Anemia, sideroblastic, 2, pyridoxine-refractory False False False -GARD:18382 Kleefstra syndrome 2 False False False -GARD:18383 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 False False False -GARD:18384 Encephalopathy, acute, infection-induced, susceptibility to, 4 False False False -GARD:18385 Meningioma, familial, susceptibility to False False False -GARD:18386 Glycogen storage disease ixa1 False False False -GARD:18387 Glycogen storage disease ixc False False False -GARD:18388 Maple syrup urine disease, mild variant False False False -GARD:18389 Preeclampsia/eclampsia 1 False False False -GARD:1839 Transient neonatal diabetes mellitus False False False -GARD:18390 Preeclampsia/eclampsia 2 False False False -GARD:18391 Preeclampsia/eclampsia 3 False False False -GARD:18392 Preeclampsia/eclampsia 4 False False False -GARD:18393 Preeclampsia/eclampsia 5 False False False -GARD:18394 Pulmonary hypertension, primary, 2 False False False -GARD:18395 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 False False False -GARD:18396 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 False False False -GARD:18397 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 False False False -GARD:18398 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 False False False -GARD:18399 Spermatogenic failure 3 False False False -GARD:184 Yellow nail syndrome False False False -GARD:18400 Spermatogenic failure 7 False False False -GARD:18401 Spermatogenic failure 10 False False False -GARD:18402 Spermatogenic failure 18 False False False -GARD:18403 Spermatogenic failure 19 False False False -GARD:18404 Spermatogenic failure 20 False False False -GARD:18405 Spermatogenic failure 27 False False False -GARD:18406 Spermatogenic failure 33 False False False -GARD:18407 Spermatogenic failure 34 False False False -GARD:18408 Spermatogenic failure 37 False False False -GARD:18409 Spermatogenic failure 38 False False False -GARD:18410 Spermatogenic failure 39 False False False -GARD:18411 Spermatogenic failure 40 False False False -GARD:18412 Spermatogenic failure 41 False False False -GARD:18413 Spermatogenic failure 42 False False False -GARD:18414 Spermatogenic failure 43 False False False -GARD:18415 Vitamin d hydroxylation-deficient rickets, type 1b False False False -GARD:18416 Hypophosphatemic rickets, autosomal recessive, 1 False False False -GARD:18417 Hypophosphatemic rickets, autosomal recessive, 2 False False False -GARD:18418 Vesicoureteral reflux 1 False False False -GARD:18419 Vesicoureteral reflux 2 False False False -GARD:18420 Vesicoureteral reflux 3 False False False -GARD:18421 Vesicoureteral reflux 4 False False False -GARD:18422 Vesicoureteral reflux 5 False False False -GARD:18423 Vesicoureteral reflux 6 False False False -GARD:18424 Vesicoureteral reflux 7 False False False -GARD:18425 Vesicoureteral reflux 8 False False False -GARD:18426 Peeling skin syndrome 4 False False False -GARD:18427 Peeling skin syndrome 5 False False False -GARD:18428 3mc syndrome 2 False False False -GARD:18429 Inflammatory skin and bowel disease, neonatal, 1 False False False -GARD:18430 Inflammatory skin and bowel disease, neonatal, 2 False False False -GARD:18431 Renal-hepatic-pancreatic dysplasia 1 False False False -GARD:18432 Renal-hepatic-pancreatic dysplasia 2 False False False -GARD:18433 Chromosome xq26.3 duplication syndrome False False False -GARD:18434 Hypercalcemia, infantile, 1 False False False -GARD:18435 Hypercalcemia, infantile, 2 False False False -GARD:18436 Facial paresis, hereditary congenital, 2 False False False -GARD:18437 Facial paresis, hereditary congenital, 3 False False False -GARD:18438 Microcephaly, epilepsy, and diabetes syndrome 1 False False False -GARD:18439 Microcephaly, epilepsy, and diabetes syndrome 2 False False False -GARD:18440 Episodic pain syndrome, familial, 2 False False False -GARD:18441 Cerebroretinal microangiopathy with calcifications and cysts 1 False False False -GARD:18442 Cerebroretinal microangiopathy with calcifications and cysts 2 False False False -GARD:18443 Spinal muscular atrophy, distal, autosomal recessive, 5 False False False -GARD:18444 Neuropathy, hereditary motor, with myopathic features False False False -GARD:18445 Renal cell carcinoma, xp11-associated False False False -GARD:18446 Proteasome-associated autoinflammatory syndrome 3 False False False -GARD:18447 Proteasome-associated autoinflammatory syndrome 2 False False False -GARD:18448 Proteasome-associated autoinflammatory syndrome 5 False False False -GARD:18449 Proteasome-associated autoinflammatory syndrome 4 False False False -GARD:18450 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 False False False -GARD:18451 Myasthenic syndrome, congenital, 12 False False False -GARD:18452 Myasthenic syndrome, congenital, 13 False False False -GARD:18453 Myasthenic syndrome, congenital, 15 False False False -GARD:18454 Myasthenic syndrome, congenital, 14 False False False -GARD:18455 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 False False False -GARD:18456 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 False False False -GARD:18457 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 False False False -GARD:18458 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 False False False -GARD:18459 Microcephaly, short stature, and impaired glucose metabolism 1 False False False -GARD:18460 Microcephaly, short stature, and impaired glucose metabolism 2 False False False -GARD:18461 Parkinson disease 19a, juvenile-onset False False False -GARD:18462 Parkinson disease 20, early-onset False False False -GARD:18463 Silver-russell syndrome 3 False False False -GARD:18464 Silver-russell syndrome 4 False False False -GARD:18465 Silver-russell syndrome 5 False False False -GARD:18466 Combined oxidative phosphorylation deficiency 19 False False False -GARD:18467 Short-rib thoracic dysplasia 14 with polydactyly False False False -GARD:18468 Immunodeficiency 15b False False False -GARD:18469 Immunodeficiency 15a False False False -GARD:18470 Aortic valve disease 1 False False False -GARD:18471 Aortic valve disease 2 False False False -GARD:18472 Melanoma, cutaneous malignant, susceptibility to, 1 False False False -GARD:18473 Melanoma-pancreatic cancer syndrome False False False -GARD:18474 Parkinson disease 1, autosomal dominant False False False -GARD:18475 Parkinson disease 4, autosomal dominant False False False -GARD:18476 Parkinson disease 8, autosomal dominant False False False -GARD:18477 Parkinson disease 11, autosomal dominant, susceptibility to False False False -GARD:18478 Parkinson disease 17 False False False -GARD:18479 Parkinson disease 18, autosomal dominant, susceptibility to False False False -GARD:18480 Parkinson disease 21 False False False -GARD:18481 Microcephaly and chorioretinopathy, autosomal recessive, 1 False False False -GARD:18482 Microcephaly and chorioretinopathy, autosomal recessive, 3 False False False -GARD:18483 Short stature, microcephaly, and endocrine dysfunction False False False -GARD:18484 Seckel syndrome 10 False False False -GARD:18485 Colorectal cancer, susceptibility to, 10 False False False -GARD:18486 Colorectal cancer, susceptibility to, 12 False False False -GARD:18487 Palmoplantar keratoderma, nonepidermolytic, focal 1 False False False -GARD:18488 Palmoplantar keratoderma, nonepidermolytic, focal 2 False False False -GARD:18489 Patent ductus arteriosus 2 False False False -GARD:18490 Patent ductus arteriosus 3 False False False -GARD:18491 Bleeding disorder, platelet-type, 20 False False False -GARD:18492 Thrombocytopenia 7 False False False -GARD:18493 Chilblain lupus 1 False False False -GARD:18494 Chilblain lupus 2 False False False -GARD:18495 Spinal muscular atrophy with congenital bone fractures 2 False False False -GARD:18496 Oocyte maturation defect 2 False False False -GARD:18497 Oocyte maturation defect 4 False False False -GARD:18498 Oocyte maturation defect 8 False False False -GARD:18499 Oocyte maturation defect 9 False False False -GARD:1850 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome False False False -GARD:18500 Oocyte maturation defect 10 False False False -GARD:18501 Intellectual developmental disorder, autosomal dominant 42 False False False -GARD:18502 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy False False False -GARD:18503 Spermatogenic failure, y-linked, 1 False False False -GARD:18504 Spermatogenic failure, y-linked, 2 False False False -GARD:18505 Monosomy 7 myelodysplasia and leukemia syndrome 1 False False False -GARD:18506 Monosomy 7 myelodysplasia and leukemia syndrome 2 False False False -GARD:18507 Microcephaly, growth restriction, and increased sister chromatid exchange 2 False False False -GARD:18508 Vertebral, cardiac, renal, and limb defects syndrome 1 False False False -GARD:18509 Vertebral, cardiac, renal, and limb defects syndrome 2 False False False -GARD:1851 Split cord malformation type I False False False -GARD:18510 Vertebral, cardiac, renal, and limb defects syndrome 3 False False False -GARD:18511 Shukla-vernon syndrome False False False -GARD:18512 Intellectual developmental disorder with autism and speech delay False False False -GARD:18513 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies False False False -GARD:18514 Intellectual developmental disorder, autosomal dominant 61 False False False -GARD:18515 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia False False False -GARD:18516 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature False False False -GARD:18517 Developmental delay with variable intellectual impairment and behavioral abnormalities False False False -GARD:18518 Intellectual developmental disorder with severe speech and ambulation defects False False False -GARD:18519 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly False False False -GARD:18520 Intellectual developmental disorder with impaired language and dysmorphic facies False False False -GARD:18521 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies False False False -GARD:18522 Intellectual developmental disorder with autistic features and language delay, with or without seizures False False False -GARD:18523 Neurodevelopmental, jaw, eye, and digital syndrome False False False -GARD:18524 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities False False False -GARD:18525 Tolchin-le caignec syndrome False False False -GARD:18526 Li-ghorbani-weisz-hubshman syndrome False False False -GARD:18527 Intellectual developmental disorder with seizures and language delay False False False -GARD:18528 Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia False False False -GARD:18529 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies False False False -GARD:18530 Neurodevelopmental disorder with speech impairment and dysmorphic facies False False False -GARD:18531 Neurodevelopmental disorder with seizures and brain atrophy False False False -GARD:18532 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy False False False -GARD:18533 Delpire-mcneill syndrome False False False -GARD:18534 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities False False False -GARD:18535 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities False False False -GARD:18536 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy False False False -GARD:18537 Kaya-barakat-masson syndrome False False False -GARD:18538 Lessel-kreienkamp syndrome False False False -GARD:18539 Neurodevelopmental disorder with or without early-onset generalized epilepsy False False False -GARD:18540 Neurodevelopmental disorder with or without autism or seizures False False False -GARD:18541 Global developmental delay with speech and behavioral abnormalities False False False -GARD:18542 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism False False False -GARD:18543 Neurodevelopmental disorder with dysmorphic facies and variable seizures False False False -GARD:18544 Alzahrani-kuwahara syndrome False False False -GARD:18545 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia False False False -GARD:18546 Buratti-harel syndrome False False False -GARD:18547 Intellectual developmental disorder, autosomal dominant 65 False False False -GARD:18548 Robinow syndrome, autosomal dominant 2 False False False -GARD:18549 Robinow syndrome, autosomal dominant 3 False False False -GARD:1855 Dicarboxylic aminoaciduria False False False -GARD:18550 Hemolytic uremic syndrome, atypical, susceptibility to, 1 False False False -GARD:18551 Complement factor h deficiency False False False -GARD:18552 Hemolytic uremic syndrome, atypical, susceptibility to, 2 False False False -GARD:18553 Hemolytic uremic syndrome, atypical, susceptibility to, 3 False False False -GARD:18554 Hemolytic uremic syndrome, atypical, susceptibility to, 4 False False False -GARD:18555 Hemolytic uremic syndrome, atypical, susceptibility to, 5 False False False -GARD:18556 Hemolytic uremic syndrome, atypical, susceptibility to, 6 False False False -GARD:18557 Nephrotic syndrome, type 7 False False False -GARD:18558 Trigonocephaly 1 False False False -GARD:18559 Trigonocephaly 2 False False False -GARD:18560 Endove syndrome, limb-only type False False False -GARD:18561 Endove syndrome, limb-brain type False False False -GARD:18562 Pontocerebellar hypoplasia, type 14 False False False -GARD:18563 Pontocerebellar hypoplasia, type 15 False False False -GARD:18564 Lethal congenital contracture syndrome 7 False False False -GARD:18565 Lethal congenital contracture syndrome 8 False False False -GARD:18566 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect False False False -GARD:18567 Neuropathy, congenital hypomyelinating, 3 False False False -GARD:18568 Thrombophilia due to protein s deficiency, autosomal dominant False False False -GARD:18569 Thrombophilia due to protein s deficiency, autosomal recessive False False False -GARD:18570 Mitochondrial complex iv deficiency, nuclear type 2 False False False -GARD:18571 Mitochondrial complex iv deficiency, nuclear type 6 False False False -GARD:18572 Mitochondrial complex iv deficiency, nuclear type 9 False False False -GARD:18573 Mitochondrial complex iv deficiency, nuclear type 13 False False False -GARD:18574 Thrombophilia due to protein c deficiency, autosomal dominant False False False -GARD:18575 Melanoma, cutaneous malignant, susceptibility to, 2 False False False -GARD:18576 Melanoma, malignant familial intraocular False False False -GARD:18577 Melanoma, cutaneous malignant, susceptibility to, 4 False False False -GARD:18578 Melanoma, cutaneous malignant, susceptibility to, 3 False False False -GARD:18579 Melanoma, cutaneous malignant, susceptibility to, 5 False False False -GARD:18580 Melanoma, cutaneous malignant, susceptibility to, 6 False False False -GARD:18581 Melanoma, cutaneous malignant, susceptibility to, 9 False False False -GARD:18582 Melanoma, cutaneous malignant, susceptibility to, 10 False False False -GARD:18583 Hypercalciuria, absorptive, 2 False False False -GARD:18584 Hypercalciuria, absorptive, 1 False False False -GARD:18585 Congenital short bowel syndrome False False False -GARD:18586 Omphalocele, autosomal False False False -GARD:18587 Omphalocele, x-linked False False False -GARD:18588 Erythrokeratodermia variabilis et progressiva 2 False False False -GARD:18589 Erythrokeratodermia variabilis et progressiva 3 False False False -GARD:1859 Diethylstilbestrol syndrome False False False -GARD:18590 Erythrokeratodermia variabilis et progressiva 4 False False False -GARD:18591 Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant False False False -GARD:18592 Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant False False False -GARD:18593 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type False False False -GARD:18594 Sarcoidosis, susceptibility to, 1 False False False -GARD:18595 Sarcoidosis, susceptibility to, 2 False False False -GARD:18596 Sarcoidosis, susceptibility to, 3 False False False -GARD:18597 Polycystic kidney disease 1 with or without polycystic liver disease False False False -GARD:18598 Polycystic kidney disease 3 with or without polycystic liver disease False False False -GARD:18599 Polycystic kidney disease 2 with or without polycystic liver disease False False False -GARD:18600 Hypogonadotropic hypogonadism 10 with or without anosmia False False False -GARD:18601 Hypogonadotropic hypogonadism 13 with or without anosmia False False False -GARD:18602 Diabetes insipidus, neurohypophyseal False False False -GARD:18603 Diabetes insipidus, neurohypophyseal, x-linked False False False -GARD:18604 Parkinson disease 12 False False False -GARD:18605 Parkinson disease 6, autosomal recessive early-onset False False False -GARD:18606 Parkinson disease 7, autosomal recessive early-onset False False False -GARD:18607 Parkinson disease 10 False False False -GARD:18608 Parkinson disease 13, autosomal dominant, susceptibility to False False False -GARD:18609 Parkinson disease 5, autosomal dominant, susceptibility to False False False -GARD:1861 Diffuse neonatal hemangiomatosis False False False -GARD:18610 Parkinson disease 23, autosomal recessive early-onset False False False -GARD:18611 Atrial standstill 1 False False False -GARD:18612 Atrial standstill 2 False False False -GARD:18613 Xanthomatosis, susceptibility to False False False -GARD:18614 Hypercholesterolemia, familial, 4 False False False -GARD:18615 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation False False False -GARD:18616 Dystonia 11, myoclonic False False False -GARD:18617 Developmental and epileptic encephalopathy 2 False False False -GARD:18619 Amyotrophic lateral sclerosis 21 False False False -GARD:1862 Non-epidermolytic palmoplantar keratoderma False False False -GARD:18620 Pigmented nodular adrenocortical disease, primary, 1 False False False -GARD:18621 Cholestasis, progressive familial intrahepatic, 4 False False False -GARD:18622 Congenital contractures of the limbs and face, hypotonia, and developmental delay False False False -GARD:18623 Intellectual developmental disorder, autosomal dominant 1 False False False -GARD:18624 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism False False False -GARD:18625 Nanophthalmos 1 False False False -GARD:18626 Nanophthalmos 2 False False False -GARD:18627 Nanophthalmos 3 False False False -GARD:18628 Microphthalmia, isolated 6 False False False -GARD:18629 Nanophthalmos 4 False False False -GARD:18630 Factor v and factor viii, combined deficiency of, 1 False False False -GARD:18631 Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor False False False -GARD:18632 Factor v and factor viii, combined deficiency of, 2 False False False -GARD:18633 Short qt syndrome 1 False False False -GARD:18634 Short qt syndrome 2 False False False -GARD:18635 Short qt syndrome 3 False False False -GARD:18636 Vitamin d hydroxylation-deficient rickets, type 1a False False False -GARD:18637 Amyloidosis, primary localized cutaneous, 1 False False False -GARD:18638 Amyloidosis, primary localized cutaneous, 2 False False False -GARD:18639 Progressive symmetric erythrokeratodermia False False False -GARD:18640 X-linked non-syndromic intellectual disability False False False -GARD:18641 Generalized epilepsy with febrile seizures-plus False False False -GARD:18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome False False False -GARD:18643 Autosomal recessive non-syndromic intellectual disability False False False -GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB False False False -GARD:18645 Juvenile nephronophthisis False False False -GARD:18646 Overgrowth-macrocephaly-facial dysmorphism syndrome False False False -GARD:18647 Hereditary persistence of alpha-fetoprotein False False False -GARD:18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome False False False -GARD:18649 Isolated ATP synthase deficiency False False False -GARD:18650 Autosomal recessive nail dysplasia False False False -GARD:18651 Familial benign flecked retina False False False -GARD:18652 Isolated sedoheptulokinase deficiency False False False -GARD:18653 DNAJB2-related Charcot-Marie-Tooth disease type 2 False False False -GARD:18654 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome False False False -GARD:18655 Microcephaly-short stature-limb abnormalities syndrome False False False -GARD:18656 Fetal hemoglobin quantitative trait locus 1 False False False -GARD:18657 Fetal hemoglobin quantitative trait locus 2 False False False -GARD:18658 Fetal hemoglobin quantitative trait locus 3 False False False -GARD:18659 Generalized epilepsy with febrile seizures plus, type 1 False False False -GARD:18660 Mitochondrial complex v (atp synthase) deficiency, nuclear type 1 False False False -GARD:18661 Generalized epilepsy with febrile seizures plus, type 2 False False False -GARD:18662 Generalized epilepsy with febrile seizures plus, type 4 False False False -GARD:18663 Generalized epilepsy with febrile seizures plus, type 6 False False False -GARD:18664 Generalized epilepsy with febrile seizures plus, type 8 False False False -GARD:18665 Generalized epilepsy with febrile seizures plus, type 7 False False False -GARD:18666 Mitochondrial complex v (atp synthase) deficiency, nuclear type 3 False False False -GARD:18667 Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 False False False -GARD:18668 Generalized epilepsy with febrile seizures plus, type 9 False False False -GARD:18669 Erythrokeratodermia variabilis et progressiva 5 False False False -GARD:18670 Mitochondrial complex v (atp synthase) deficiency, nuclear type 5 False False False -GARD:18671 Generalized epilepsy with febrile seizures plus, type 10 False False False -GARD:18672 Erythrokeratodermia variabilis et progressiva 6 False False False -GARD:18673 Mitochondrial complex v (atp synthase) deficiency, nuclear type 6 False False False -GARD:18674 Erythrokeratodermia variabilis et progressiva 7 False False False -GARD:18675 Amoebiasis due to Entamoeba histolytica False False False -GARD:18676 Amyloidosis False False False -GARD:18677 Juvenile idiopathic arthritis False False False -GARD:18678 Atresia of urethra False False False -GARD:18679 Non-rhizomelic chondrodysplasia punctata False False False -GARD:18680 Scimitar syndrome False False False -GARD:18681 Isolated corpus callosum agenesis False False False -GARD:18682 Neonatal diabetes mellitus False False False -GARD:18683 Trisomy 9p False False False -GARD:18684 Digestive duplication False False False -GARD:18685 Spondylometaphyseal dysplasia False False False -GARD:18686 Duchenne and Becker muscular dystrophy False False False -GARD:18687 Congenital herpes simplex virus infection False False False -GARD:18688 Reflex epilepsy False False False -GARD:18689 Hemorrhagic fever-renal syndrome False False False -GARD:18690 Arbovirus fever False False False -GARD:18691 Glycogen storage disease due to phosphorylase kinase deficiency False False False -GARD:18692 Histoplasmosis False False False -GARD:18693 Familial keratoacanthoma False False False -GARD:18694 Keratosis pilaris atrophicans False False False -GARD:18695 Systemic lupus erythematosus False False False -GARD:18696 Toxic epidermal necrolysis False False False -GARD:18697 Primary cutaneous CD30+ T-cell lymphoproliferative disease False False False -GARD:18698 Primary cutaneous lymphoma False False False -GARD:18699 Distal myopathy False False False -GARD:18700 Congenital primary megaureter False False False -GARD:18701 Non-histaminic angioedema False False False -GARD:18702 Plague False False False -GARD:18703 Pili bifurcati False False False -GARD:18704 Rare form of salmonellosis False False False -GARD:18705 Scleroderma False False False -GARD:18706 Congenital cervical spinal stenosis False False False -GARD:18707 Primitive portal vein thrombosis False False False -GARD:18708 Congenital toxoplasmosis False False False -GARD:18709 Primary adult heart tumor False False False -GARD:18710 Primary pediatric heart tumor False False False -GARD:18711 Extragonadal teratoma False False False -GARD:18712 Absence of the pulmonary artery False False False -GARD:18713 Alopecia antibody deficiency False False False -GARD:18714 Sideroblastic anemia False False False -GARD:18715 Isolated lissencephaly type 1 without known genetic defects False False False -GARD:18716 Radial deficiency-tibial hypoplasia syndrome False False False -GARD:18717 Abnormal origin of the pulmonary artery False False False -GARD:18718 Autosomal recessive cerebellar ataxia False False False -GARD:18719 Mitochondrial DNA-related cardiomyopathy and hearing loss False False False -GARD:1872 Diphallia False False False -GARD:18720 Isolated cerebellar agenesis False False False -GARD:18721 Paroxysmal dyskinesia False False False -GARD:18722 Autosomal dominant coarctation of aorta False False False -GARD:18723 Atypical coarctation of aorta False False False -GARD:18724 Criss-cross heart False False False -GARD:18725 Univentricular heart False False False -GARD:18726 Short rib-polydactyly syndrome False False False -GARD:18727 Thin ribs-tubular bones-dysmorphism syndrome False False False -GARD:18728 Benign focal seizures of adolescence False False False -GARD:18729 Non-distal monosomy 10q False False False -GARD:18730 Deletion 5q35 False False False -GARD:18731 Distal monosomy 7q36 False False False -GARD:18732 Distal monosomy 9p False False False -GARD:18733 Xp22.3 microdeletion syndrome False False False -GARD:18734 Sporadic fetal brain disruption sequence False False False -GARD:18735 Familial idiopathic dilatation of the right atrium False False False -GARD:18736 Mosaic trisomy 1 False False False -GARD:18737 Non-distal trisomy 10q False False False -GARD:18738 Non-distal trisomy 13q False False False -GARD:18739 Distal trisomy 14q False False False -GARD:1874 Hemolytic anemia due to diphosphoglycerate mutase deficiency False False False -GARD:18740 Distal trisomy 15q False False False -GARD:18741 Mosaic trisomy 16 False False False -GARD:18742 Distal trisomy 18q False False False -GARD:18743 Distal trisomy 19q False False False -GARD:18744 Mosaic trisomy 20 False False False -GARD:18745 Distal trisomy 6p False False False -GARD:18746 Fibular dimelia-diplopodia syndrome False False False -GARD:18747 45,X/46,XY mixed gonadal dysgenesis False False False -GARD:18748 Multicystic dysplastic kidney False False False -GARD:18749 Focal, segmental or multifocal dystonia False False False -GARD:1875 Diphtheria False False False -GARD:18750 Fetal trimethadione syndrome False False False -GARD:18751 Toluene embryopathy False False False -GARD:18752 Rasmussen subacute encephalitis False False False -GARD:18753 Frontal encephalocele False False False -GARD:18754 Cleft lip with or without cleft palate False False False -GARD:18755 Cleft lip/palate-deafness-sacral lipoma syndrome False False False -GARD:18756 Median cleft lip/mandibule False False False -GARD:18757 Filariasis False False False -GARD:18758 Congenital systemic arteriovenous fistula False False False -GARD:18759 Progressive non-infectious anterior vertebral fusion False False False -GARD:1876 Diprosopus False False False -GARD:18760 Dysmorphism-pectus carinatum-joint laxity syndrome False False False -GARD:18761 Hemimelia False False False -GARD:18762 Craniosynostosis, Herrmann-Opitz type False False False -GARD:18763 Hypotrichosis-intellectual disability, Lopes type False False False -GARD:18764 Dysmorphism-short stature-deafness-disorder of sex development syndrome False False False -GARD:18765 Isotretinoin syndrome False False False -GARD:18766 Epidermolysis bullosa simplex with anodontia/hypodontia False False False -GARD:18767 Kallmann syndrome-heart disease syndrome False False False -GARD:18768 Isolated punctate palmoplantar keratoderma False False False -GARD:18769 Congenital primary lymphedema without systemic or visceral involvement False False False -GARD:18770 Primary pulmonary lymphoma False False False -GARD:18771 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies False False False -GARD:18772 Congenital pulmonary airway malformation False False False -GARD:18773 Lower limb malformation-hypospadias syndrome False False False -GARD:18774 Microcephaly-seizures-intellectual disability-heart disease syndrome False False False -GARD:18775 Myalgia-eosinophilia syndrome associated with tryptophan False False False -GARD:18776 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome False False False -GARD:18777 Adult familial nephronophthisis-spastic quadriparesia syndrome False False False -GARD:18778 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome False False False -GARD:18779 Congenital pericardium anomaly False False False -GARD:18780 Pericardial and diaphragmatic defect False False False -GARD:18781 Hereditary acrokeratotic poikiloderma False False False -GARD:18782 46,XX disorder of sex development-anorectal anomalies syndrome False False False -GARD:18783 46,XX disorder of sex development False False False -GARD:18784 Mirror polydactyly-vertebral segmentation-limbs defects syndrome False False False -GARD:18785 Congenital systemic veins anomaly False False False -GARD:18786 Congenital aortic valve stenosis False False False -GARD:18787 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome False False False -GARD:18788 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome False False False -GARD:18789 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome False False False -GARD:18790 Disorder of plasmalogens biosynthesis False False False -GARD:18791 Telecanthus-hypertelorism-strabismus-pes cavus syndrome False False False -GARD:18792 Tetrasomy 5p False False False -GARD:18793 Toxocariasis False False False -GARD:18794 Distal trisomy 17q False False False -GARD:18795 American trypanosomiasis False False False -GARD:18796 Neural tube defect False False False -GARD:18797 Germ cell tumor False False False -GARD:18798 Aorto-ventricular tunnel False False False -GARD:18799 Protein S acquired deficiency False False False -GARD:18800 Oral erosive lichen False False False -GARD:18801 Hypoalphalipoproteinemia False False False -GARD:18802 Hypobetalipoproteinemia False False False -GARD:18803 Colchicine poisoning False False False -GARD:18804 Methanol poisoning False False False -GARD:18805 Ethylene glycol poisoning False False False -GARD:18806 Paraquat poisoning False False False -GARD:18807 Digitalis poisoning False False False -GARD:18808 Bullous lichen planus False False False -GARD:18809 Meningococcal meningitis False False False -GARD:18810 Corneal dystrophy False False False -GARD:18811 Severe disseminated cytomegalovirus infection in immunocompetent patients False False False -GARD:18812 Fulminant viral hepatitis False False False -GARD:18813 Epidermal nevus syndrome False False False -GARD:18814 Mitochondrial disorder due to a defect in mitochondrial protein synthesis False False False -GARD:18815 Neurometabolic disorder due to serine deficiency False False False -GARD:18816 Malignant sex cord stromal tumor of ovary False False False -GARD:18817 Acute opioid poisoning False False False -GARD:18818 Polymicrogyria False False False -GARD:18819 Staphylococcal scarlet fever False False False -GARD:18820 Bullous impetigo False False False -GARD:18821 Staphylococcal necrotizing pneumonia False False False -GARD:18822 Gastric linitis plastica False False False -GARD:18823 Familial cervical artery dissection False False False -GARD:18824 Autoimmune hypoparathyroidism False False False -GARD:18825 Interstitial cystitis False False False -GARD:18826 Acquired kinky hair syndrome False False False -GARD:18827 Acitretin/etretinate embryopathy False False False -GARD:18828 Serotonin syndrome False False False -GARD:18829 Acute tricyclic antidepressant poisoning False False False -GARD:1883 Dissecting cellulitis of the scalp False False False -GARD:18830 Acute poisoning by drugs with membrane-stabilizing effect False False False -GARD:18831 Idiopathic neonatal atrial flutter False False False -GARD:18832 Incessant infant ventricular tachycardia False False False -GARD:18833 Superficial pemphigus False False False -GARD:18834 Linear IgA dermatosis False False False -GARD:18835 Postinfectious vasculitis False False False -GARD:18836 Embryonal carcinoma of the central nervous system False False False -GARD:18837 Focal myositis False False False -GARD:18838 Acquired purpura fulminans False False False -GARD:18839 Lichen amyloidosis False False False -GARD:18840 Microlissencephaly-micromelia syndrome False False False -GARD:18841 Zellweger-like syndrome without peroxisomal anomalies False False False -GARD:18842 Duane anomaly-myopathy-scoliosis syndrome False False False -GARD:18843 Anterior cutaneous nerve entrapment syndrome False False False -GARD:18844 Vasculitis False False False -GARD:18845 Orbital leiomyoma False False False -GARD:18846 Posterior cortical atrophy False False False -GARD:18847 Hepatocellular adenoma False False False -GARD:18848 Sarcocystosis False False False -GARD:18849 Pneumococcal meningitis False False False -GARD:18850 Carcinoma of gallbladder and extrahepatic biliary tract False False False -GARD:18851 Human prion disease False False False -GARD:18852 Cirrhotic cardiomyopathy False False False -GARD:18853 Mazabraud syndrome False False False -GARD:18854 Osteoblastoma False False False -GARD:18855 Rhombencephalosynapsis False False False -GARD:18856 Argyria False False False -GARD:18857 Rare epithelial tumor of stomach False False False -GARD:18858 Paraneoplastic pemphigus False False False -GARD:18859 Acrofacial dysostosis, Kennedy-Teebi type False False False -GARD:1886 Late-onset distal myopathy, Markesbery-Griggs type False False False -GARD:18860 Benign idiopathic neonatal seizures False False False -GARD:18861 Oroya fever False False False -GARD:18862 Trench fever False False False -GARD:18863 Granulomatous mastitis False False False -GARD:18864 Pulmonary blastoma False False False -GARD:18865 Hepatoportal sclerosis False False False -GARD:18866 IgG4-related thyroid disease False False False -GARD:18867 Vaginal atresia False False False -GARD:18868 Short fifth metacarpals-insulin resistance syndrome False False False -GARD:18869 Sensorineural hearing loss-early graying-essential tremor syndrome False False False -GARD:1887 Vocal cord and pharyngeal distal myopathy False False False -GARD:18870 Mast cell sarcoma False False False -GARD:18871 Extracutaneous mastocytoma False False False -GARD:18872 Segmental odontomaxillary dysplasia False False False -GARD:18873 Rare hemorrhagic disorder due to a constitutional coagulation factors defect False False False -GARD:18874 Rare chromosomal anomaly False False False -GARD:18875 Rare genetic tumor False False False -GARD:18876 Multiple congenital anomalies/dysmorphic syndrome False False False -GARD:18877 Rare genetic skin disease False False False -GARD:18878 Tumor of hematopoietic and lymphoid tissues False False False -GARD:18879 Rare sleep disorder False False False -GARD:18880 Rare deafness False False False -GARD:18881 Rare vascular disease False False False -GARD:18882 Rare dystonia False False False -GARD:18883 Hemoglobinopathy False False False -GARD:18884 Lysosomal disease False False False -GARD:18885 Peroxisomal disease False False False -GARD:18886 Congenital limb malformation False False False -GARD:18887 Mitochondrial disease False False False -GARD:18888 Neuromuscular disease False False False -GARD:18889 Rare constitutional aplastic anemia False False False -GARD:18890 Neurometabolic disease False False False -GARD:18891 Rare parkinsonian disorder False False False -GARD:18892 Rare bone tumor False False False -GARD:18893 Rare parathyroid disease and phosphocalcic metabolism anomaly False False False -GARD:18894 Vascular anomaly or angioma False False False -GARD:18895 Dysostosis with brachydactyly False False False -GARD:18896 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization False False False -GARD:18897 Bilateral acute depigmentation of the iris False False False -GARD:18898 Circumscribed palmoplantar hypokeratosis False False False -GARD:18899 Warty dyskeratoma False False False -GARD:18900 Radiation proctitis False False False -GARD:18901 Squamous cell carcinoma of the esophagus False False False -GARD:18902 Adult acute respiratory distress syndrome False False False -GARD:18903 Congenital Epstein-Barr virus infection False False False -GARD:18904 Rare pulmonary hypertension False False False -GARD:18905 Rare hemorrhagic disorder due to a constitutional platelet anomaly False False False -GARD:18906 Autoimmune thrombocytopenia False False False -GARD:18907 Rare soft tissue tumor False False False -GARD:18908 Retinal capillary malformation False False False -GARD:18909 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome False False False -GARD:1891 Distomatosis False False False -GARD:18910 Silent sinus syndrome False False False -GARD:18911 Rare central nervous system and retinal vascular disease False False False -GARD:18912 Cancer-associated retinopathy False False False -GARD:18913 Benign paroxysmal torticollis of infancy False False False -GARD:18914 Psychogenic movement disorders False False False -GARD:18915 Rare genetic neurological disorder False False False -GARD:18916 Inherited retinal disorder False False False -GARD:18917 Muscular channelopathy False False False -GARD:18918 Intractable diarrhea of infancy False False False -GARD:18919 Global developmental delay-osteopenia-ectodermal defect syndrome False False False -GARD:18920 Kidney tubulopathy-dilated cardiomyopathy syndrome False False False -GARD:18921 Ossification anomalies-psychomotor developmental delay syndrome False False False -GARD:18922 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome False False False -GARD:18923 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome False False False -GARD:18924 Myiasis False False False -GARD:18925 Oligocone trichromacy False False False -GARD:18926 Brain malformation-congenital heart disease-postaxial polydactyly syndrome False False False -GARD:18927 Angioosteohypotrophic syndrome False False False -GARD:18928 Tropical endomyocardial fibrosis False False False -GARD:18929 Loeffler endocarditis False False False -GARD:18930 Primary progressive freezing gait False False False -GARD:18931 6q terminal deletion syndrome False False False -GARD:18932 Primary lymphedema False False False -GARD:18933 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome False False False -GARD:18934 Monosomy 9q22.3 False False False -GARD:18935 Genetic obesity False False False -GARD:18936 Rare genetic odontologic disease False False False -GARD:18937 Disorder of amino acid and other organic acid metabolism False False False -GARD:18938 Folinic acid-responsive seizures False False False -GARD:18939 Sympathetic ophthalmia False False False -GARD:1894 Von Voss-Cherstvoy syndrome False False False -GARD:18940 Interstitial granulomatous dermatitis with arthritis False False False -GARD:18941 Myxofibrosarcoma False False False -GARD:18942 Respiratory bronchiolitis-interstitial lung disease syndrome False False False -GARD:18943 Trichodysplasia-amelogenesis imperfecta syndrome False False False -GARD:18944 Bickerstaff brainstem encephalitis False False False -GARD:18945 Cerebral organic aciduria False False False -GARD:18946 Disorder of carbohydrate metabolism False False False -GARD:18947 Classic organic aciduria False False False -GARD:18948 Disorder of amino acid absorption and transport False False False -GARD:18949 Disorder of bile acid synthesis False False False -GARD:18950 Disorder of neurotransmitter metabolism and transport False False False -GARD:18951 Disorder of cobalamin metabolism and transport False False False -GARD:18952 Creatine deficiency syndrome False False False -GARD:18953 Disorder of methionine cycle and sulfur amino acid metabolism False False False -GARD:18954 Disorder of fatty acid oxidation and ketone body metabolism False False False -GARD:18955 Disorder of gamma-aminobutyric acid metabolism False False False -GARD:18956 Gluconeogenesis disorder False False False -GARD:18957 Glucose transport disorder False False False -GARD:18958 Disorder of glycerol metabolism False False False -GARD:18959 Disorder of histidine metabolism False False False -GARD:1896 Cleft palate False False False -GARD:18960 Disorder of ketolysis False False False -GARD:18961 Disorder of ornithine or proline metabolism False False False -GARD:18962 Disorder of pentose phosphate metabolism False False False -GARD:18963 Disorder of peptide metabolism False False False -GARD:18964 Disorder of phenylalanin or tyrosine metabolism False False False -GARD:18965 Disorder of purine metabolism False False False -GARD:18966 Disorder of pyridoxine metabolism False False False -GARD:18967 Disorder of pyrimidine metabolism False False False -GARD:18968 Disorder of serine or glycine metabolism False False False -GARD:18969 Sterol biosynthesis disorder False False False -GARD:18970 Disorder of the gamma-glutamyl cycle False False False -GARD:18971 Disorder of branched-chain amino acid metabolism False False False -GARD:18972 Disorder of energy metabolism False False False -GARD:18973 Glycogen storage disease False False False -GARD:18974 Disorder of lysosomal amino acid transport False False False -GARD:18975 Mucolipidosis False False False -GARD:18976 Disorder of biogenic amine metabolism and transport False False False -GARD:18977 Oligosaccharidosis False False False -GARD:18978 Other metabolic disease with skin involvement False False False -GARD:18979 Metabolic disease involving other neurotransmitter deficiency False False False -GARD:1898 Early-onset zonular cataract False False False -GARD:18980 Disorder of purine or pyrimidine metabolism False False False -GARD:18981 Sterol metabolism disorder False False False -GARD:18982 Classic phenylketonuria False False False -GARD:18983 Diazoxide-resistant focal hyperinsulinism False False False -GARD:18984 Epidermal disease False False False -GARD:18985 Ichthyosis False False False -GARD:18986 Erythrokeratoderma False False False -GARD:18987 Acrokeratoderma False False False -GARD:18988 Hereditary palmoplantar keratoderma False False False -GARD:18989 Porokeratosis False False False -GARD:1899 Donnai-Barrow syndrome False False False -GARD:18990 Other epidermal disorder False False False -GARD:18991 Other genetic epidermal disease False False False -GARD:18992 Inherited epidermolysis bullosa False False False -GARD:18993 Epidermal appendage anomaly False False False -GARD:18994 Hair anomaly False False False -GARD:18995 Alopecia False False False -GARD:18996 Rare disorder with hypertrichosis False False False -GARD:18997 Isolated hair shaft abnormality False False False -GARD:18998 Syndromic hair shaft abnormality False False False -GARD:18999 Nail anomaly False False False -GARD:19 Dihydropyrimidine dehydrogenase deficiency False False False -GARD:19000 Isolated nail anomaly False False False -GARD:19001 Syndromic nail anomaly False False False -GARD:19002 Sebaceous gland anomaly False False False -GARD:19003 Pigmentation anomaly of the skin False False False -GARD:19004 Hyperpigmentation of the skin False False False -GARD:19005 Hypopigmentation of the skin False False False -GARD:19006 Dermis disorder False False False -GARD:19007 Dermis elastic tissue disorder False False False -GARD:19008 Skin vascular disease False False False -GARD:19009 Mixed dermis disorder False False False -GARD:19010 Other dermis disorder False False False -GARD:19011 Subcutaneous tissue disease False False False -GARD:19012 Rare urticaria False False False -GARD:19013 Unclassified genetic skin disorder False False False -GARD:19014 Rare skin tumor or hamartoma False False False -GARD:19015 Metabolic disease with skin involvement False False False -GARD:19016 Mucopolysaccharidosis with skin involvement False False False -GARD:19017 Premature aging False False False -GARD:19018 Rare photodermatosis False False False -GARD:19019 Immune deficiency with skin involvement False False False -GARD:1902 Autosomal recessive dopa-responsive dystonia False False False -GARD:19020 Verrucous nevus False False False -GARD:19021 Pemphigus vegetans False False False -GARD:19022 Pemphigus erythematosus False False False -GARD:19023 Phakomatosis cesioflammea False False False -GARD:19024 Phakomatosis cesiomarmorata False False False -GARD:19025 Phakomatosis spilorosea False False False -GARD:19026 Pili gemini False False False -GARD:19027 Mild hyperphenylalaninemia False False False -GARD:19028 Autoimmune bullous skin disease False False False -GARD:19029 Urogenital tract malformation False False False -GARD:1903 Dopamine beta-hydroxylase deficiency False False False -GARD:19030 Rickettsialpox False False False -GARD:19031 Boutonneuse fever False False False -GARD:19032 Epidemic typhus False False False -GARD:19033 Murine typhus False False False -GARD:19034 Pseudotyphus of California False False False -GARD:19035 Scrub typhus False False False -GARD:19036 Regional odontodysplasia False False False -GARD:19037 Vulvovaginal gingival syndrome False False False -GARD:19038 Narcolepsy type 2 False False False -GARD:19039 Solitary bone cyst False False False -GARD:1904 Subcortical band heterotopia False False False -GARD:19040 Mycoplasma encephalitis False False False -GARD:19041 St. Louis encephalitis False False False -GARD:19042 Colorado tick fever False False False -GARD:19043 Rubella panencephalitis False False False -GARD:19044 Macrostomia-preauricular tags-external ophthalmoplegia syndrome False False False -GARD:19045 LUMBAR syndrome False False False -GARD:19046 Idiopathic malabsorption due to bile acid synthesis defects False False False -GARD:19047 Hinman syndrome False False False -GARD:19048 Collagen type III glomerulopathy False False False -GARD:19049 Craniofacial conodysplasia False False False -GARD:19050 Astley-Kendall dysplasia False False False -GARD:19051 Dysspondyloenchondromatosis False False False -GARD:19052 Ischiovertebral syndrome False False False -GARD:19053 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome False False False -GARD:19054 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome False False False -GARD:19055 X-linked intellectual disability-macrocephaly-macroorchidism syndrome False False False -GARD:19056 X-linked intellectual disability, Pai type False False False -GARD:19057 X-linked intellectual disability, Seemanova type False False False -GARD:19058 X-linked intellectual disability, Stevenson type False False False -GARD:19059 X-linked intellectual disability, Stoll type False False False -GARD:19060 X-linked intellectual disability-acromegaly-hyperactivity syndrome False False False -GARD:19061 X-linked neurodegenerative syndrome, Bertini type False False False -GARD:19062 X-linked neurodegenerative syndrome, Hamel type False False False -GARD:19063 X-linked intellectual disability-ataxia-apraxia syndrome False False False -GARD:19064 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis False False False -GARD:19065 Wild type ABeta2M amyloidosis False False False -GARD:19066 Atypical lichen myxedematosus False False False -GARD:19067 Lissencephaly type 3-familial fetal akinesia sequence syndrome False False False -GARD:19068 Lissencephaly with cerebellar hypoplasia False False False -GARD:19069 Refractory cytopenia with multilineage dysplasia False False False -GARD:1907 Double outlet left ventricle False False False -GARD:19070 Refractory anemia with excess blasts False False False -GARD:19071 Acute basophilic leukemia False False False -GARD:19072 Splenic marginal zone lymphoma False False False -GARD:19073 Non-amyloid monoclonal immunoglobulin deposition disease False False False -GARD:19074 Heavy chain disease False False False -GARD:19075 Nodal marginal zone B-cell lymphoma False False False -GARD:19076 Adult T-cell leukemia/lymphoma False False False -GARD:19077 Hepatosplenic T-cell lymphoma False False False -GARD:19078 Primary cutaneous peripheral T-cell lymphoma not otherwise specified False False False -GARD:19079 Nodular lymphocyte predominant Hodgkin lymphoma False False False -GARD:1908 Double outlet right ventricle False False False -GARD:19080 Histiocytic sarcoma False False False -GARD:19081 Follicular dendritic cell sarcoma False False False -GARD:19082 Dendritic cell sarcoma not otherwise specified False False False -GARD:19083 Methotrexate-associated lymphoproliferative disorders False False False -GARD:19084 Hypothalamic hamartomas with gelastic seizures False False False -GARD:19085 Idiopathic hemiconvulsion-hemiplegia syndrome False False False -GARD:19086 Myoclonic epilepsy of infancy False False False -GARD:19087 Epilepsy with myoclonic absences False False False -GARD:19088 Myoclonic epilepsy in non-progressive encephalopathies False False False -GARD:19089 Diffuse palmoplantar keratoderma-acrocyanosis syndrome False False False -GARD:19090 Rare intellectual disability False False False -GARD:19091 Non-syndromic genetic deafness False False False -GARD:19092 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome False False False -GARD:19093 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor False False False -GARD:19094 Rare congenital non-syndromic heart malformation False False False -GARD:19095 Esophageal malformation False False False -GARD:19096 Rare dementia False False False -GARD:19097 Undifferentiated connective tissue syndrome False False False -GARD:19098 Inflammatory pseudotumor of the liver False False False -GARD:19099 Radiation myelitis False False False -GARD:1910 Double uterus-hemivagina-renal agenesis syndrome False False False -GARD:19100 Non-syndromic syndactyly False False False -GARD:19101 Mixed-type autoimmune hemolytic anemia False False False -GARD:19102 Drug-induced autoimmune hemolytic anemia False False False -GARD:19103 Hemoglobin D disease False False False -GARD:19104 Gaisböck syndrome False False False -GARD:19105 Sepsis in premature infants False False False -GARD:19106 Recurrent hepatitis C virus induced liver disease in liver transplant recipients False False False -GARD:19107 Complications after hematopoietic stem cell transplantation False False False -GARD:19108 Moderate and severe traumatic brain injury False False False -GARD:19109 Spinal cord injury False False False -GARD:19110 Diffuse alveolar hemorrhage False False False -GARD:19111 Non-infectious posterior uveitis False False False -GARD:19112 Acute liver failure False False False -GARD:19113 Acute peripheral arterial occlusion False False False -GARD:19114 Acquired aneurysmal subarachnoid hemorrhage False False False -GARD:19115 Cocaine intoxication False False False -GARD:19116 Systemic monochloroacetate poisoning False False False -GARD:19117 Hepatitis B reinfection following liver transplantation False False False -GARD:19118 Partial deep dermal and full thickness burns False False False -GARD:19119 Other acquired skin disease False False False -GARD:1912 Familial drusen False False False -GARD:19120 Invasive infections due to vancomycin-resistant enterococci False False False -GARD:19121 Scarring in glaucoma filtration surgical procedures False False False -GARD:19122 AIDS wasting syndrome False False False -GARD:19123 Severe early-onset axonal neuropathy due to MFN2 deficiency False False False -GARD:19124 Hereditary motor and sensory neuropathy with acrodystrophy False False False -GARD:19125 Centrifugal lipodystrophy False False False -GARD:19126 Drug-induced localized lipodystrophy False False False -GARD:19127 Idiopathic localized lipodystrophy False False False -GARD:19128 Panniculitis-induced localized lipodystrophy False False False -GARD:19129 Pressure-induced localized lipoatrophy False False False -GARD:19130 Chilblain lupus False False False -GARD:19131 Discoid lupus erythematosus False False False -GARD:19132 Hypertrophic or verrucous lupus erythematosus False False False -GARD:19133 Lupus erythematosus panniculitis False False False -GARD:19134 Autosomal recessive cutis laxa type 2 False False False -GARD:19135 Secondary intestinal lymphangiectasia False False False -GARD:19136 Telangiectasia macularis eruptiva perstans False False False -GARD:19137 Nodular lichen myxedematosus False False False -GARD:19138 Discrete papular lichen myxedematosus False False False -GARD:19139 Papular mucinosis of infancy False False False -GARD:19140 Acral persistent papular mucinosis False False False -GARD:19141 Self-healing papular mucinosis False False False -GARD:19142 Localized lichen myxedematosus with mixed features of different subtypes False False False -GARD:19143 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms False False False -GARD:19144 Scleromyxedema without monoclonal gammopathy False False False -GARD:19145 Syndromic genetic deafness False False False -GARD:19146 Rare endocrine growth disease False False False -GARD:19147 Disorder of sex development False False False -GARD:19148 46,XX disorder of sex development induced by fetal androgens excess False False False -GARD:19149 46,XY disorder of sex development due to a testosterone synthesis defect False False False -GARD:19150 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect False False False -GARD:19151 46,XY disorder of sex development due to testicular steroidogenesis defect False False False -GARD:19152 Other metabolic disease False False False -GARD:19153 Adenovirus infection in immunocompromised patients False False False -GARD:19154 Acquired monoclonal Ig light chain-associated Fanconi syndrome False False False -GARD:19155 Unspecified juvenile idiopathic arthritis False False False -GARD:19156 46,XX disorder of sex development induced by maternal-derived androgen False False False -GARD:19157 TSH-secreting pituitary adenoma False False False -GARD:19158 Functioning gonadotropic adenoma False False False -GARD:19159 Non-functioning pituitary adenoma False False False -GARD:19160 Pituitary deficiency due to Rathke cleft cysts False False False -GARD:19161 Pituitary dermoid and epidermoid cysts False False False -GARD:19162 Germinoma of the central nervous system False False False -GARD:19163 Pituitary deficiency due to empty sella turcica syndrome False False False -GARD:19164 Duplication of the esophagus False False False -GARD:19165 Congenital esophageal diverticulum False False False -GARD:19166 Chronic pneumonitis of infancy False False False -GARD:19167 Non-specific interstitial pneumonia False False False -GARD:19168 Isolated ankyloblepharon filiforme adnatum False False False -GARD:19169 Congenital ectropion uveae False False False -GARD:1917 Dermatitis herpetiformis False False False -GARD:19170 Lyme disease False False False -GARD:19171 Relapsing fever False False False -GARD:19172 Renal hypoplasia False False False -GARD:19173 Renal dysplasia False False False -GARD:19174 Congenital megacalycosis False False False -GARD:19175 Pauci-immune glomerulonephritis False False False -GARD:19176 Transient pseudohypoaldosteronism False False False -GARD:19177 Renal dysplasia, unilateral False False False -GARD:19178 Renal dysplasia, bilateral False False False -GARD:19179 Unilateral congenital megacalycosis False False False -GARD:19180 Congenital bilateral megacalycosis False False False -GARD:19181 Monostotic fibrous dysplasia False False False -GARD:19182 Ulnar hemimelia False False False -GARD:19183 Juvenile sialidosis type 2 False False False -GARD:19184 Congenital sialidosis type 2 False False False -GARD:19185 FGFR3-related chondrodysplasia False False False -GARD:19186 Type 2 collagen-related bone disorder False False False -GARD:19187 Type 11 collagen-related bone disorder False False False -GARD:19188 Sulfation-related bone disorder False False False -GARD:19189 Perlecan-related bone disorder False False False -GARD:19190 Filamin-related bone disorder False False False -GARD:19191 Multiple epiphyseal dysplasia and pseudoachondroplasia False False False -GARD:19192 Multiple metaphyseal dysplasia False False False -GARD:19193 Spondylodysplastic dysplasia False False False -GARD:19194 Acromelic dysplasia False False False -GARD:19195 Mesomelic and rhizo-mesomelic dysplasia False False False -GARD:19196 Campomelic dysplasia and related disorders False False False -GARD:19197 Slender bone dysplasia False False False -GARD:19198 Primary bone dysplasia with multiple joint dislocations False False False -GARD:19199 Neonatal osteosclerotic dysplasia False False False -GARD:192 Cataract-intellectual disability-anal atresia-urinary defects syndrome False False False -GARD:19200 Primary bone dysplasia with increased bone density False False False -GARD:19201 Primary bone dysplasia with decreased bone density False False False -GARD:19202 Primary bone dysplasia with defective bone mineralization False False False -GARD:19203 Lysosomal storage disease with skeletal involvement False False False -GARD:19204 Primary osteolysis False False False -GARD:19205 Primary bone dysplasia with disorganized development of skeletal components False False False -GARD:19206 Cleidocranial dysplasia and isolated cranial ossification defect False False False -GARD:19207 Dysostosis with predominant craniofacial involvement False False False -GARD:19208 Dysostosis with predominant vertebral and costal involvement False False False -GARD:19209 Patellar dysostosis False False False -GARD:19210 Non-syndromic limb reduction defect False False False -GARD:19211 Non-syndromic polydactyly, syndactyly and/or hyperphalangy False False False -GARD:19212 Syndrome with synostosis or other joint formation defect False False False -GARD:19213 Overgrowth syndrome False False False -GARD:19214 Chromosomal disease with overgrowth False False False -GARD:19215 Lethal chondrodysplasia False False False -GARD:19216 Renal or urinary tract malformation False False False -GARD:19217 Non-syndromic renal or urinary tract malformation False False False -GARD:19218 Syndromic renal or urinary tract malformation False False False -GARD:19219 Pediatric systemic lupus erythematosus False False False -GARD:19220 Mixed cryoglobulinemia type II False False False -GARD:19221 Mixed cryoglobulinemia type III False False False -GARD:19222 Heavy chain deposition disease False False False -GARD:19223 Light and heavy chain deposition disease False False False -GARD:19224 AApoAI amyloidosis False False False -GARD:19225 ALys amyloidosis False False False -GARD:19226 AFib amyloidosis False False False -GARD:19227 Thrombotic microangiopathy False False False -GARD:19228 Genetic cystic renal disease False False False -GARD:19229 Nephropathy secondary to a storage or other metabolic disease False False False -GARD:19230 Rare renal tubular disease False False False -GARD:19231 Hematological disorder with renal involvement False False False -GARD:19232 Rare cause of hypertension False False False -GARD:19233 Rare renal tumor False False False -GARD:19234 Autoinflammatory syndrome False False False -GARD:19235 Isolated epispadias False False False -GARD:19236 Laryngotracheoesophageal cleft type 1 False False False -GARD:19237 Laryngotracheoesophageal cleft type 2 False False False -GARD:19238 Laryngotracheoesophageal cleft type 4 False False False -GARD:19239 X-linked intellectual disability, Porteous type False False False -GARD:19240 Hamel cerebro-palato-cardiac syndrome False False False -GARD:19241 X-linked intellectual disability, Golabi-Ito-Hall type False False False -GARD:19242 X-linked intellectual disability, Sutherland-Haan type False False False -GARD:19243 Oromandibular dystonia False False False -GARD:19244 Humero-ulnar synostosis False False False -GARD:19245 Neovascular glaucoma False False False -GARD:19246 Uremic pruritus False False False -GARD:19247 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia False False False -GARD:19248 Non-functioning paraganglioma False False False -GARD:19249 Cytophagic histiocytic panniculitis False False False -GARD:19250 Mills syndrome False False False -GARD:19251 Recessive mitochondrial ataxia syndrome False False False -GARD:19252 Autosomal dominant cerebellar ataxia type I False False False -GARD:19253 Autosomal dominant cerebellar ataxia type III False False False -GARD:19254 Autosomal dominant cerebellar ataxia type IV False False False -GARD:19255 Acute hepatic porphyria False False False -GARD:19256 Chronic hepatic porphyria False False False -GARD:19257 Acute adrenal insufficiency False False False -GARD:19258 Secondary short bowel syndrome False False False -GARD:19259 Mesocardia False False False -GARD:19260 Congenital aortic valve atresia False False False -GARD:19261 Tricuspid valve agenesis False False False -GARD:19262 Congenital tricuspid stenosis False False False -GARD:19263 Straddling or overriding tricuspid valve False False False -GARD:19264 Accessory tricuspid valve tissue False False False -GARD:19265 Anomaly of the tricuspid subvalvular apparatus False False False -GARD:19266 Congenital mitral valve insufficiency and/or stenosis False False False -GARD:19267 Cleft mitral valve False False False -GARD:19268 Double-orifice mitral valve False False False -GARD:19269 Univentricular cardiopathy False False False -GARD:19270 Arterial duct anomaly False False False -GARD:19271 Premature closure of the arterial duct False False False -GARD:19272 Non-acquired pituitary hormone deficiency False False False -GARD:19273 Congenital coronary artery aneurysm False False False -GARD:19274 Disease associated with non-acquired combined pituitary hormone deficiency False False False -GARD:19275 Congenital anomaly of superior vena cava False False False -GARD:19276 Congenital anomaly of the inferior vena cava False False False -GARD:19277 Congenital anomaly of the coronary sinus False False False -GARD:19278 Acquired pituitary hormone deficiency False False False -GARD:19279 Pituitary hormone deficiency of tumoral origin False False False -GARD:19280 Pituitary hormone deficiency of meningeal origin False False False -GARD:19281 Primary hypophysitis False False False -GARD:19282 Congenital anomaly of hepatic vein False False False -GARD:19283 Atrial appendage anomaly False False False -GARD:19284 Adenohypophysitis False False False -GARD:19285 Panhypophysitis False False False -GARD:19286 Pituitary hormone deficiency of vascular origin False False False -GARD:19287 Pituitary apoplexy False False False -GARD:19288 Pituitary hormone deficiency secondary to a granulomatous disease False False False -GARD:19289 Pituitary hormone deficiency secondary to storage disease False False False -GARD:19290 Post-traumatic pituitary deficiency False False False -GARD:19291 Acquired central diabetes insipidus False False False -GARD:19292 Idiopathic isolated micropenis False False False -GARD:19293 Acquired premature ovarian failure False False False -GARD:19294 Non-acquired premature ovarian failure False False False -GARD:19295 Congenital hypothyroidism due to developmental anomaly False False False -GARD:19296 Primary congenital hypothyroidism without thyroid developmental anomaly False False False -GARD:19297 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies False False False -GARD:19298 Idiopathic congenital hypothyroidism False False False -GARD:19299 Congenital thyroid malformation without hypothyroidism False False False -GARD:193 Opitz GBBB syndrome False False False -GARD:19300 Mosaic trisomy 4 False False False -GARD:19301 Mosaic trisomy 5 False False False -GARD:19302 Mosaic trisomy 10 False False False -GARD:19303 Distal trisomy 1p36 False False False -GARD:19304 Distal trisomy 2p False False False -GARD:19305 Distal trisomy 3p False False False -GARD:19306 4p16.3 microduplication syndrome False False False -GARD:19307 Distal trisomy 7p False False False -GARD:19308 Beckwith-Wiedemann syndrome due to 11p15 microduplication False False False -GARD:19309 8p inverted duplication/deletion syndrome False False False -GARD:19310 Distal trisomy 2q False False False -GARD:19311 3q26 microduplication syndrome False False False -GARD:19312 Distal trisomy 4q False False False -GARD:19313 Distal trisomy 5q False False False -GARD:19314 Distal trisomy 6q False False False -GARD:19315 Distal trisomy 8q False False False -GARD:19316 Distal trisomy 9q False False False -GARD:19317 Distal trisomy 10q False False False -GARD:19318 Distal trisomy 11q False False False -GARD:19319 Distal trisomy 13q False False False -GARD:19320 Distal trisomy 16q False False False -GARD:19321 Distal trisomy 20q False False False -GARD:19322 Distal trisomy 22q False False False -GARD:19323 Non-distal trisomy 9q False False False -GARD:19324 Monosomy 22 False False False -GARD:19325 Distal monosomy 7p False False False -GARD:19326 Distal monosomy 19p13.3 False False False -GARD:19327 Distal monosomy 4q False False False -GARD:19328 Distal monosomy 12q False False False -GARD:19329 Distal monosomy 14q False False False -GARD:19330 Non-distal monosomy 12q False False False -GARD:19331 Maternal uniparental disomy of chromosome 2 False False False -GARD:19332 Maternal uniparental disomy of chromosome 4 False False False -GARD:19333 Maternal uniparental disomy of chromosome 6 False False False -GARD:19334 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 False False False -GARD:19335 Maternal uniparental disomy of chromosome 9 False False False -GARD:19336 Maternal uniparental disomy of chromosome 16 False False False -GARD:19337 Maternal uniparental disomy of chromosome 21 False False False -GARD:19338 Maternal uniparental disomy of chromosome 22 False False False -GARD:19339 Paternal uniparental disomy of chromosome 5 False False False -GARD:19340 Paternal uniparental disomy of chromosome 6 False False False -GARD:19341 Paternal uniparental disomy of chromosome 7 False False False -GARD:19342 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 False False False -GARD:19343 Paternal uniparental disomy of chromosome 20 False False False -GARD:19344 Paternal uniparental disomy of chromosome 21 False False False -GARD:19345 X small rings False False False -GARD:19346 Rare genetic deafness False False False -GARD:19347 Isolated partial vaginal agenesis False False False -GARD:19348 Polyploidy False False False -GARD:19349 Isochromosome Y False False False -GARD:19350 Rare otorhinolaryngological malformation False False False -GARD:19351 Anorectal malformation False False False -GARD:19352 Early-onset schizophrenia False False False -GARD:19353 Solar urticaria False False False -GARD:19354 Zebra body myopathy False False False -GARD:19355 Mega-cisterna magna False False False -GARD:19356 GRFoma False False False -GARD:19357 Encephalitis False False False -GARD:19358 PPoma False False False -GARD:19359 Thyroid lymphoma False False False -GARD:19360 Bronchial neuroendocrine tumor False False False -GARD:19361 Thymic neuroendocrine tumor False False False -GARD:19362 Cardiogenic shock False False False -GARD:19363 Rare benign ovarian tumor False False False -GARD:19364 Osgood-Schlatter disease False False False -GARD:19365 Panner disease False False False -GARD:19366 Sinding-Larsen-Johansson disease False False False -GARD:19367 Melanoma of soft tissue False False False -GARD:19368 Dural sinus malformation False False False -GARD:19369 Persistent placoid maculopathy False False False -GARD:19370 Postencephalitic parkinsonism False False False -GARD:19371 Dementia pugilistica False False False -GARD:19372 Caribbean parkinsonism False False False -GARD:19373 Renal hypoplasia, unilateral False False False -GARD:19374 Renal hypoplasia, bilateral False False False -GARD:19375 Unilateral multicystic dysplastic kidney False False False -GARD:19376 Multiloculated renal cyst False False False -GARD:19377 Renal tubular dysgenesis due to twin-twin transfusion False False False -GARD:19378 Drug-related renal tubular dysgenesis False False False -GARD:19379 Pauci-immune glomerulonephritis with ANCA False False False -GARD:19380 Pauci-immune glomerulonephritis without ANCA False False False -GARD:19381 Congenital renal artery stenosis False False False -GARD:19382 Maternal uniparental disomy of chromosome 13 False False False -GARD:19383 Gastroduodenal malformation False False False -GARD:19384 Intestinal malformation False False False -GARD:19385 Respiratory or thoracic malformation False False False -GARD:19386 Infectious disease of the nervous system False False False -GARD:19387 Rare headache False False False -GARD:19388 Rare disease with odontological manifestation False False False -GARD:19389 Rare neurologic disease with psychiatric involvement False False False -GARD:19390 Cranial malformation False False False -GARD:19391 Digestive tract malformation False False False -GARD:19392 Visceral malformation of the liver, biliary tract, pancreas or spleen False False False -GARD:19393 Diaphragmatic or abdominal wall malformation False False False -GARD:19394 Central nervous system malformation False False False -GARD:19395 Respiratory or mediastinal malformation False False False -GARD:19396 Rare male infertility False False False -GARD:19397 Rare female infertility False False False -GARD:19398 Rare allergic respiratory disease False False False -GARD:19399 Rare genetic cardiac disease False False False -GARD:194 Gamma-aminobutyric acid transaminase deficiency False False False -GARD:19400 Rare genetic renal disease False False False -GARD:19401 Rare tumor False False False -GARD:19402 Rare urinary tract tumor False False False -GARD:19403 Rare digestive tumor False False False -GARD:19404 Rare respiratory tumor False False False -GARD:19405 Rare otorhinolaryngologic tumor False False False -GARD:19406 Rare nervous system tumor False False False -GARD:19407 Rare gynecological tumor False False False -GARD:19408 Gonadal dysgenesis of gynecological interest False False False -GARD:19409 46,XX disorder of sex development induced by androgens excess False False False -GARD:19410 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue False False False -GARD:19411 Syndrome with 46,XY disorder of sex development False False False -GARD:19412 Autosomal recessive congenital cerebellar ataxia False False False -GARD:19413 Autosomal recessive metabolic cerebellar ataxia False False False -GARD:19414 Autosomal recessive cerebellar ataxia due to a DNA repair defect False False False -GARD:19415 Autosomal recessive degenerative and progressive cerebellar ataxia False False False -GARD:19416 Autosomal recessive syndromic cerebellar ataxia False False False -GARD:19417 Autosomal anomaly False False False -GARD:19418 Autosomal trisomy False False False -GARD:19419 Total autosomal trisomy False False False -GARD:19420 Partial autosomal trisomy/tetrasomy False False False -GARD:19421 Total autosomal monosomy False False False -GARD:19422 Partial autosomal monosomy False False False -GARD:19423 Autosomal uniparental disomy False False False -GARD:19424 Maternal uniparental disomy False False False -GARD:19425 Paternal uniparental disomy False False False -GARD:19426 Sex-chromosome anomaly False False False -GARD:19427 Sex-chromosome number anomaly False False False -GARD:19428 Sex-chromosome structural anomaly False False False -GARD:19429 Chromosome Y structural anomaly False False False -GARD:19430 Chromosome X structural anomaly False False False -GARD:19431 Malformation syndrome with hamartosis False False False -GARD:19432 Combined dystonia False False False -GARD:19433 Infectious encephalitis False False False -GARD:19434 Chronic encephalitis False False False -GARD:19435 Neonatal epilepsy syndrome False False False -GARD:19436 Infantile epilepsy syndrome False False False -GARD:19437 Childhood-onset epilepsy syndrome False False False -GARD:19438 Adolescent-onset epilepsy syndrome False False False -GARD:19439 Genetic non-syndromic obesity False False False -GARD:19440 Plasma cell tumor False False False -GARD:19441 Histiocytic and dendritic cell tumor False False False -GARD:19442 Macrophage or histiocytic tumor False False False -GARD:19443 Immunodeficiency-associated lymphoproliferative disease False False False -GARD:19444 Laminopathy False False False -GARD:19445 Male infertility due to gonadal dysgenesis False False False -GARD:19446 Male infertility due to obstructive azoospermia False False False -GARD:19447 Autosomal dominant isolated diffuse palmoplantar keratoderma False False False -GARD:19448 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature False False False -GARD:19449 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature False False False -GARD:19450 Autosomal recessive isolated diffuse palmoplantar keratoderma False False False -GARD:19451 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature False False False -GARD:19452 Constitutional anemia due to iron metabolism disorder False False False -GARD:19453 Constitutional sideroblastic anemia False False False -GARD:19454 Rare hemolytic anemia False False False -GARD:19455 Rare constitutional hemolytic anemia due to a red cell membrane anomaly False False False -GARD:19456 Hereditary stomatocytosis False False False -GARD:19457 Constitutional hemolytic anemia due to acanthocytosis False False False -GARD:19458 Rare constitutional hemolytic anemia due to an enzyme disorder False False False -GARD:19459 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies False False False -GARD:19460 Hemolytic anemia due to a disorder of glycolytic enzymes False False False -GARD:19461 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder False False False -GARD:19462 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder False False False -GARD:19463 Constitutional megaloblastic anemia due to folate metabolism disorder False False False -GARD:19464 Vitamin B12- and folate-independent constitutional megaloblastic anemia False False False -GARD:19465 Primary acquired red cell aplasia False False False -GARD:19466 Polycythemia False False False -GARD:19467 Secondary polycythemia False False False -GARD:19468 Rare coagulation disorder False False False -GARD:19469 Alpha granule disease False False False -GARD:19470 Dense granule disease False False False -GARD:19471 Skeletal muscle disease False False False -GARD:19472 Metabolic myopathy False False False -GARD:19473 Neuromuscular junction disease False False False -GARD:19474 Acquired neuromuscular junction disease False False False -GARD:19475 Genetic neuromuscular junction disease False False False -GARD:19476 Rare peripheral neuropathy False False False -GARD:19477 Motor neuron disease False False False -GARD:19478 Genetic motor neuron disease False False False -GARD:19479 Acquired motor neuron disease False False False -GARD:19480 Malformation of the cerebellar vermis False False False -GARD:19481 Malformation of the cerebellar hemispheres False False False -GARD:19482 Cranial nerve and nuclear aplasia False False False -GARD:19483 Posterior fossa malformation False False False -GARD:19484 Neurodegenerative disease with dementia False False False -GARD:19485 Frontotemporal degeneration with dementia False False False -GARD:19486 Ataxia with dementia False False False -GARD:19487 Early-onset ataxia with dementia False False False -GARD:19488 Late-onset ataxia with dementia False False False -GARD:19489 Infectious disease with dementia False False False -GARD:19490 Metabolic disease with dementia False False False -GARD:19491 Cerebral lipidosis with dementia False False False -GARD:19492 Rare cerebrovascular dementia False False False -GARD:19493 Microphthalmia-anophthalmia-coloboma False False False -GARD:19494 Syndromic aniridia False False False -GARD:19495 Rare palpebral disorder False False False -GARD:19496 Congenital malformation of the eyelid False False False -GARD:19497 Microblepharon-ablephara syndrome False False False -GARD:19498 Eyelid border anomaly False False False -GARD:19499 Syndromic ankyloblepharon filiforme adnatum False False False -GARD:195 Hyperkalemic periodic paralysis False False False -GARD:19500 Syndromic eyelid coloboma False False False -GARD:19501 Rare eyelid malposition disorder False False False -GARD:19502 Congenital ectropion False False False -GARD:19503 Secondary ectropion False False False -GARD:19504 Syndromic epicanthus False False False -GARD:19505 Syndromic telecanthus False False False -GARD:19506 Syndromic outer canthal malposition False False False -GARD:19507 Rare disorder with ptosis False False False -GARD:19508 Rare eyebrow/eyelash disorder False False False -GARD:19509 Rare disorder of the lacrimal apparatus False False False -GARD:19510 Congenital alacrima False False False -GARD:19511 Lacrimal drainage system anomaly False False False -GARD:19512 EEC syndrome and related disorders False False False -GARD:19513 Rare disorder with conjunctival involvement as a major feature False False False -GARD:19514 Rare refraction anomaly False False False -GARD:19515 Rare hyperopia and astigmatism False False False -GARD:19516 Syndromic hyperopia False False False -GARD:19517 Syndromic keratoconus False False False -GARD:19518 Superficial corneal dystrophy False False False -GARD:19519 Stromal corneal dystrophy False False False -GARD:19520 Posterior corneal dystrophy False False False -GARD:19521 Syndromic corneal dystrophy False False False -GARD:19522 Congenital malformation of the eye with glaucoma as a major feature False False False -GARD:19523 Corneodysgenesis False False False -GARD:19524 Rare disease with glaucoma as a major feature False False False -GARD:19525 Rare lens disease False False False -GARD:19526 Rare disorder with lens opacification False False False -GARD:19527 Syndromic cataract False False False -GARD:19528 Chromosomal anomaly with cataract False False False -GARD:19529 Metabolic disease with cataract False False False -GARD:19530 Renal disease with cataract False False False -GARD:19531 Musculoskeletal disease with cataract False False False -GARD:19532 Dentocutaneous disease with cataract False False False -GARD:19533 Craniofacial anomaly with cataract False False False -GARD:19534 Lens size anomaly False False False -GARD:19535 Lens position anomaly False False False -GARD:19536 Lens shape anomaly False False False -GARD:19537 Color-vision disease False False False -GARD:19538 Syndromic rod-cone dystrophy False False False -GARD:19539 Vitreoretinopathy False False False -GARD:19540 Hereditary optic neuropathy False False False -GARD:19541 Rare disorder with strabismus False False False -GARD:19542 Syndromic disorder with strabismus False False False -GARD:19543 Craniostenosis with strabismus False False False -GARD:19544 Rare oculomotor nerve disorder False False False -GARD:19545 Congenital trochlear nerve palsy False False False -GARD:19546 Supranuclear eye movement disorder False False False -GARD:19547 Oculomotor apraxia False False False -GARD:19548 Oculocutaneous or ocular albinism False False False -GARD:19549 Uveitis False False False -GARD:19550 Heart position anomaly False False False -GARD:19551 Transposition of the great arteries and conotruncal cardiac anomaly False False False -GARD:19552 Aortic malformation False False False -GARD:19553 Pulmonary artery or pulmonary branch anomaly False False False -GARD:19554 Atrioventricular valve anomaly False False False -GARD:19555 Congenital tricuspid malformation False False False -GARD:19556 Congenital anomaly of the great arteries False False False -GARD:19557 Ascending aorta anomaly False False False -GARD:19558 Rare atrial defect and interatrial communication False False False -GARD:19559 Congenital pulmonary veins anomaly False False False -GARD:19560 Congenital arteriovenous fistula False False False -GARD:19561 Noonan syndrome and Noonan-related syndrome False False False -GARD:19562 Genetic neurological muscular channelopathy False False False -GARD:19563 Neurological muscular channelopathy due to a genetic sodium channel defect False False False -GARD:19564 Neurological muscular channelopathy due to a genetic chloride channel defect False False False -GARD:19565 Neurological muscular channelopathy due to a genetic calcium channel defect False False False -GARD:19566 Neurological muscular channelopathy due to a genetic potassium channel defect False False False -GARD:19567 Neurological muscular channelopathy due to a genetic ryanodine receptor defect False False False -GARD:19568 Genetic neurological channelopathy of the central nervous system False False False -GARD:19569 Neurological channelopathy of the central nervous system due to a genetic sodium channel defect False False False -GARD:19570 Neurological channelopathy of the central nervous system due to a genetic calcium channel defect False False False -GARD:19571 Neurological channelopathy of the central nervous system due to a genetic potassium channel defect False False False -GARD:19572 Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect False False False -GARD:19573 Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect False False False -GARD:19574 Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect False False False -GARD:19575 Autoimmune neurological channelopathy False False False -GARD:19576 Prader-Willi syndrome due to paternal 15q11q13 deletion False False False -GARD:19577 Angelman syndrome due to maternal 15q11q13 deletion False False False -GARD:19578 Angelman syndrome due to paternal uniparental disomy of chromosome 15 False False False -GARD:19579 Isochromosomy Yp False False False -GARD:19580 Isochromosomy Yq False False False -GARD:19581 Benign childhood occipital epilepsy, Panayiotopoulos type False False False -GARD:19582 Benign childhood occipital epilepsy, Gastaut type False False False -GARD:19583 Atypical chronic myeloid leukemia False False False -GARD:19584 Unclassified myelodysplastic/myeloproliferative disease False False False -GARD:19585 Refractory anemia False False False -GARD:19586 Unclassified myelodysplastic syndrome False False False -GARD:19587 Acute myeloid leukemia with 11q23 abnormalities False False False -GARD:19588 Acute myeloid leukemia with minimal differentiation False False False -GARD:19589 Primary mediastinal large B-cell lymphoma False False False -GARD:19590 Intravascular large B-cell lymphoma False False False -GARD:19591 Classic Hodgkin lymphoma, nodular sclerosis type False False False -GARD:19592 Classic Hodgkin lymphoma, mixed cellularity type False False False -GARD:19593 Classic Hodgkin lymphoma, lymphocyte-rich type False False False -GARD:19594 Classic Hodgkin lymphoma, lymphocyte-depleted type False False False -GARD:19595 Indolent systemic mastocytosis False False False -GARD:19596 Systemic mastocytosis with associated hematologic neoplasm False False False -GARD:19597 Aggressive systemic mastocytosis False False False -GARD:19598 Mast cell leukemia False False False -GARD:19599 X-linked complex spastic paraplegia False False False -GARD:19600 Alpha-crystallinopathy False False False -GARD:19601 Acute motor and sensory axonal neuropathy False False False -GARD:19602 Acute motor axonal neuropathy False False False -GARD:19603 Blake pouch cyst False False False -GARD:19604 Multiple system atrophy, parkinsonian type False False False -GARD:19605 Coloboma of eyelid False False False -GARD:19606 Congenital symblepharon False False False -GARD:19607 Partial cryptophthalmia False False False -GARD:19608 Inverse Marcus-Gunn phenomenon False False False -GARD:19609 Climatic droplet keratopathy False False False -GARD:19610 Congenital hereditary endothelial dystrophy type I False False False -GARD:19611 Essential iris atrophy False False False -GARD:19612 Multifocal pattern dystrophy simulating fundus flavimaculatus False False False -GARD:19613 Fundus pulverulentus False False False -GARD:19614 Congenitally uncorrected transposition of the great arteries with coarctation False False False -GARD:19615 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis False False False -GARD:19616 Double outlet right ventricle with subpulmonary ventricular septal defect False False False -GARD:19617 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect False False False -GARD:19618 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome False False False -GARD:19619 Pulmonary artery coming from patent ductus arteriosus False False False -GARD:19620 Discrete fibromuscular subaortic stenosis False False False -GARD:19621 Tunnel subaortic stenosis False False False -GARD:19622 Valvular pulmonary stenosis False False False -GARD:19623 Congenital anomaly of the tricuspid valve chordae False False False -GARD:19624 Parachute tricuspid valve False False False -GARD:19625 Hypoplasia of the mitral valve annulus False False False -GARD:19626 Congenital supravalvular mitral ring False False False -GARD:19627 Congenital unguarded mitral orifice False False False -GARD:19628 Accessory mitral valve tissue False False False -GARD:19629 Mitral valve agenesis False False False -GARD:19630 Shone complex False False False -GARD:19631 Straddling and/or overriding mitral valve False False False -GARD:19632 Aorto-right ventricular tunnel False False False -GARD:19633 Aorto-left ventricular tunnel False False False -GARD:19634 Congenital patent ductus arteriosus aneurysm False False False -GARD:19635 Encircling double aortic arch False False False -GARD:19636 Persistent fifth aortic arch False False False -GARD:19637 Kommerell diverticulum False False False -GARD:19638 Neuhauser anomaly False False False -GARD:19639 Cervical aortic arch False False False -GARD:19640 Right aortic arch False False False -GARD:19641 Dysphagia lusoria False False False -GARD:19642 Pulmonary artery hypoplasia False False False -GARD:19643 Coronary ostial stenosis or atresia False False False -GARD:19644 Abnormal number of coronary ostia False False False -GARD:19645 Malposition of a coronary ostium False False False -GARD:19646 Laubry-Pezzi syndrome False False False -GARD:19647 Congenital Gerbode defect False False False -GARD:19648 Juxtaposition of the atrial appendages False False False -GARD:19649 Ectasia of the right atrial appendage False False False -GARD:19650 Ectasia of the left atrial appendage False False False -GARD:19651 Atrial septal aneurysm False False False -GARD:19652 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium False False False -GARD:19653 Right superior vena cava connecting to left-sided atrium False False False -GARD:19654 Persistent left superior vena cava connecting to the roof of left-sided atrium False False False -GARD:19655 Absence of innominate vein False False False -GARD:19656 Subaortic course of innominate vein False False False -GARD:19657 Agenesis of the superior vena cava False False False -GARD:19658 Coronary sinus stenosis False False False -GARD:19659 Coronary sinus atresia False False False -GARD:19660 Right inferior vena cava connecting to left-sided atrium False False False -GARD:19661 Persistent eustachian valve False False False -GARD:19662 Azygos continuation of the inferior vena cava False False False -GARD:19663 Congenital stenosis of the inferior vena cava False False False -GARD:19664 Inferior vena cava interruption without azygos continuation False False False -GARD:19665 Congenital partial pulmonary venous return anomaly False False False -GARD:19666 Congenital complete agenesis of pericardium False False False -GARD:19667 Congenital partial agenesis of pericardium False False False -GARD:19668 Pleuro-pericardial cyst False False False -GARD:19669 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction False False False -GARD:19670 Unstable hemoglobin disease False False False -GARD:19671 Epiblepharon False False False -GARD:19672 Tarsal kink syndrome False False False -GARD:19673 Isolated congenital ectropion False False False -GARD:19674 Euryblepharon False False False -GARD:19675 Congenital eyelid retraction False False False -GARD:19676 Monosomy X False False False -GARD:19677 Mosaic monosomy X False False False -GARD:19678 Paternal uniparental disomy of chromosome 13 False False False -GARD:19679 49,XYYYY syndrome False False False -GARD:19680 Pituitary adenoma False False False -GARD:19681 Turner syndrome due to structural X chromosome anomalies False False False -GARD:19682 Cheirospondyloenchondromatosis False False False -GARD:19683 Dermotrichic syndrome False False False -GARD:19684 Mesial temporal lobe epilepsy with hippocampal sclerosis False False False -GARD:19685 Early-onset obesity-hyperphagia-severe developmental delay syndrome False False False -GARD:19686 Rare familial disorder with hypertrophic cardiomyopathy False False False -GARD:19687 Bifid uvula False False False -GARD:19688 Lassa fever False False False -GARD:19689 Nipah virus disease False False False -GARD:19690 Crimean-Congo hemorrhagic fever False False False -GARD:19691 Primary syringomyelia False False False -GARD:19692 Secondary syringomyelia False False False -GARD:19693 Idiopathic syringomyelia False False False -GARD:19694 Precursor T-cell acute lymphoblastic leukemia False False False -GARD:19695 Thymic carcinoma False False False -GARD:19696 Thymic neuroendocrine carcinoma False False False -GARD:19697 Acute megakaryoblastic leukemia in Down syndrome False False False -GARD:19698 Cushing syndrome due to ectopic ACTH secretion False False False -GARD:19699 ACTH-dependent Cushing syndrome False False False -GARD:19700 ACTH-independent Cushing syndrome False False False -GARD:19701 Spirillary rat-bite fever False False False -GARD:19702 Streptobacillary rat-bite fever False False False -GARD:19703 House allergic alveolitis False False False -GARD:19704 Occupational allergic alveolitis False False False -GARD:19705 Malignant dysgerminomatous germ cell tumor of the ovary False False False -GARD:19706 Extragonadal non-dysgerminomatous germ cell tumor False False False -GARD:19707 Maligant granulosa cell tumor of the ovary False False False -GARD:19708 Theca steroid-producing cell malignant tumor of ovary, not further specified False False False -GARD:19709 Streptococcal toxic-shock syndrome False False False -GARD:19710 Staphylococcal toxic-shock syndrome False False False -GARD:19711 Invasive mole False False False -GARD:19712 Gestational choriocarcinoma False False False -GARD:19713 Secondary pulmonary hemosiderosis False False False -GARD:19714 Heiner syndrome False False False -GARD:19715 Pleuropulmonary blastoma type 1 False False False -GARD:19716 Pleuropulmonary blastoma type 2 False False False -GARD:19717 Pleuropulmonary blastoma type 3 False False False -GARD:19718 O'Sullivan-McLeod syndrome False False False -GARD:19719 Pleomorphic liposarcoma False False False -GARD:19720 Dedifferentiated liposarcoma False False False -GARD:19721 Well-differentiated liposarcoma False False False -GARD:19722 Apnea of prematurity False False False -GARD:19723 Cutaneous myiasis False False False -GARD:19724 Intermediate DEND syndrome False False False -GARD:19725 Brill-Zinsser disease False False False -GARD:19726 Relapsing epidemic typhus False False False -GARD:19727 Complex regional pain syndrome type 2 False False False -GARD:19728 Reticular perineurioma False False False -GARD:19729 Sclerosing perineurioma False False False -GARD:19730 Extraneural perineurioma False False False -GARD:19731 Lissencephaly with cerebellar hypoplasia type A False False False -GARD:19732 Lissencephaly with cerebellar hypoplasia type B False False False -GARD:19733 Lissencephaly with cerebellar hypoplasia type C False False False -GARD:19734 Lissencephaly with cerebellar hypoplasia type D False False False -GARD:19735 Lissencephaly with cerebellar hypoplasia type E False False False -GARD:19736 Lissencephaly with cerebellar hypoplasia type F False False False -GARD:19737 Refractory anemia with excess blasts type 1 False False False -GARD:19738 Refractory anemia with excess blasts type 2 False False False -GARD:19739 Primary plasmacytoma of the bone False False False -GARD:19740 Extramedullary soft tissue plasmacytoma False False False -GARD:19741 Mu-heavy chain disease False False False -GARD:19742 Alpha-heavy chain disease False False False -GARD:19743 Solitary necrotic nodule of the liver False False False -GARD:19744 Esophageal duplication cyst False False False -GARD:19745 Tubular duplication of the esophagus False False False -GARD:19746 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies False False False -GARD:19747 Acquired angioedema type 2 False False False -GARD:19748 Acquired angioedema type 1 False False False -GARD:19749 Neurogenic thoracic outlet syndrome False False False -GARD:1975 Duplication of urethra False False False -GARD:19750 Neuroendocrine tumor of stomach False False False -GARD:19751 Duodenal neuroendocrine tumor False False False -GARD:19752 Jejunal neuroendocrine tumor False False False -GARD:19753 Ileal neuroendocrine tumor False False False -GARD:19754 Neuroendocrine neoplasm of appendix False False False -GARD:19755 Neuroendocrine tumor of the colon False False False -GARD:19756 Neuroendocrine tumor of the rectum False False False -GARD:19757 Neuroendocrine tumor of anal canal False False False -GARD:19758 Laryngeal neuroendocrine tumor False False False -GARD:19759 Middle ear neuroendocrine tumor False False False -GARD:19760 Primary hepatic neuroendocrine carcinoma False False False -GARD:19761 Gallbladder neuroendocrine tumor False False False -GARD:19762 Thyroid tumor False False False -GARD:19763 Thyroid carcinoma False False False -GARD:19764 Rare parathyroid tumor False False False -GARD:19765 Adrenal/paraganglial tumor False False False -GARD:19766 Multiple polyglandular tumor False False False -GARD:19767 Thymic tumor False False False -GARD:19768 Neuroendocrine tumor with other location False False False -GARD:19769 FRAXF syndrome False False False -GARD:19770 Autosomal dominant complex spastic paraplegia False False False -GARD:19771 Autosomal dominant pure spastic paraplegia False False False -GARD:19772 Autosomal recessive complex spastic paraplegia False False False -GARD:19773 Autosomal recessive pure spastic paraplegia False False False -GARD:19774 Cleft hard palate False False False -GARD:19775 Sub-cortical nodular heterotopia False False False -GARD:19776 Congenital aortic valve dysplasia False False False -GARD:19777 Unilateral hemispheric polymicrogyria False False False -GARD:19778 Aregenerative anemia False False False -GARD:19779 Marin-Amat syndrome False False False -GARD:19780 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome False False False -GARD:19781 African tick typhus False False False -GARD:19782 Rare genetic eye disease False False False -GARD:19783 Rare non-syndromic intellectual disability False False False -GARD:19784 Anomaly of the mitral subvalvular apparatus False False False -GARD:19785 Genetic cardiac rhythm disease False False False -GARD:19786 Rare gastroesophageal disease False False False -GARD:19787 Rare pancreatic disease False False False -GARD:19788 Rare vascular liver disease False False False -GARD:19789 Rare parenchymal liver disease False False False -GARD:19790 Rare metabolic liver disease False False False -GARD:19791 Rare biliary tract disease False False False -GARD:19792 Rare hepatic and biliary tract tumor False False False -GARD:19793 Rare pulmonary disease False False False -GARD:19794 Rare bronchopulmonary tumor False False False -GARD:19795 Rare eye tumor False False False -GARD:19796 Rare diabetes mellitus False False False -GARD:19797 Rare dyslipidemia False False False -GARD:19798 Rare adrenal disease False False False -GARD:19799 Rare thyroid disease False False False -GARD:198 Proximal spinal muscular atrophy type 3 False False False -GARD:19800 Polyendocrinopathy False False False -GARD:19801 Pituitary deficiency False False False -GARD:19802 Primary adrenal insufficiency False False False -GARD:19803 Chronic primary adrenal insufficiency False False False -GARD:19804 Genetic chronic primary adrenal insufficiency False False False -GARD:19805 Acquired chronic primary adrenal insufficiency False False False -GARD:19806 Combined T and B cell immunodeficiency False False False -GARD:19807 Immunodeficiency predominantly affecting antibody production False False False -GARD:19808 Quantitative and/or qualitative congenital phagocyte defect False False False -GARD:19809 Constitutional neutropenia False False False -GARD:19810 Primary immunodeficiency due to a defect in innate immunity False False False -GARD:19811 Immunodeficiency due to a complement cascade protein anomaly False False False -GARD:19812 Periodic fever syndrome False False False -GARD:19813 Primary immunodeficiency False False False -GARD:19814 Rare epilepsy False False False -GARD:19815 Medullar disease False False False -GARD:19816 Rare ataxia False False False -GARD:19817 Rare movement disorder False False False -GARD:19818 Brain inflammatory disease False False False -GARD:19819 Neurovascular malformation False False False -GARD:19820 Other syndrome with lissencephaly as a major feature False False False -GARD:19821 Lissencephaly type 3 False False False -GARD:19822 Pure hereditary spastic paraplegia False False False -GARD:19823 Complex hereditary spastic paraplegia False False False -GARD:19824 Autosomal dominant limb-girdle muscular dystrophy False False False -GARD:19825 Autosomal recessive limb-girdle muscular dystrophy False False False -GARD:19826 Autosomal monosomy False False False -GARD:19827 Rickettsial disease False False False -GARD:19828 Spotted fever rickettsiosis False False False -GARD:19829 Typhus-group rickettsiosis False False False -GARD:19830 Human herpesvirus 8-related disorder False False False -GARD:19831 Unexplained periodic fever syndrome False False False -GARD:19832 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability False False False -GARD:19833 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability False False False -GARD:19834 Rare syndromic intellectual disability False False False -GARD:19835 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent False False False -GARD:19836 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor False False False -GARD:19837 Acute myeloid leukemia with t(8;21)(q22;q22) translocation False False False -GARD:19838 Chronic diarrhea due to glucoamylase deficiency False False False -GARD:19839 Congenital enterocyte heparan sulfate deficiency False False False -GARD:19840 Undetermined colitis False False False -GARD:19841 Congenital intestinal transport defect False False False -GARD:19842 Intestinal disease due to vitamin absorption anomaly False False False -GARD:19843 Intestinal disease due to fat malabsorption False False False -GARD:19844 Congenital intestinal disease due to an enzymatic defect False False False -GARD:19845 Congenital enteropathy involving intestinal mucosa development False False False -GARD:19846 Rare disease involving intestinal motility False False False -GARD:19847 Intestinal polyposis syndrome False False False -GARD:19848 Rare tumor of intestine False False False -GARD:19849 Rare inflammatory bowel disease False False False -GARD:19850 Metabolic disease with intestinal involvement False False False -GARD:19851 Adenocarcinoma of the small intestine False False False -GARD:19852 Leiomyosarcoma of small intestine False False False -GARD:19853 Myopathic intestinal pseudoobstruction False False False -GARD:19854 Unclassified intestinal pseudoobstruction False False False -GARD:19855 Non-syndromic esophageal malformation False False False -GARD:19856 Syndromic esophageal malformation False False False -GARD:19857 Non-syndromic gastroduodenal malformation False False False -GARD:19858 Syndromic gastroduodenal malformation False False False -GARD:19859 Non-syndromic intestinal malformation False False False -GARD:19860 Syndromic intestinal malformation False False False -GARD:19861 Non-syndromic visceral malformation False False False -GARD:19862 Syndromic visceral malformation False False False -GARD:19863 Non-syndromic diaphragmatic or abdominal wall malformation False False False -GARD:19864 Syndromic diaphragmatic or abdominal wall malformation False False False -GARD:19865 Non-syndromic central nervous system malformation False False False -GARD:19866 Syndrome with a central nervous system malformation as a major feature False False False -GARD:19867 Non-syndromic respiratory or mediastinal malformation False False False -GARD:19868 Syndromic respiratory or mediastinal malformation False False False -GARD:19869 Rare anemia False False False -GARD:19870 Arthrogryposis syndrome False False False -GARD:19871 Syndrome with limb malformations as a major feature False False False -GARD:19872 Non-syndromic limb malformation False False False -GARD:19873 Rare intestinal disease False False False -GARD:19874 Syndromic anorectal malformation False False False -GARD:19875 Neonatal hypoxic and ischemic brain injury False False False -GARD:19876 Vulvar intraepithelial neoplasia False False False -GARD:19877 Infectious epithelial keratitis False False False -GARD:19878 Neurotrophic keratopathy False False False -GARD:19879 Herpes simplex virus stromal keratitis False False False -GARD:19880 Corneal endotheliitis False False False -GARD:19881 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome False False False -GARD:19882 Intractable diarrhea-choanal atresia-eye anomalies syndrome False False False -GARD:19883 Cardiac anomalies-heterotaxy syndrome False False False -GARD:19884 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk False False False -GARD:19885 Macular amyloidosis False False False -GARD:19886 Extrapelvic endometriosis False False False -GARD:19887 Madras motor neuron disease False False False -GARD:19888 Syndromic optic nerve hypoplasia False False False -GARD:19889 Choanal atresia, unilateral False False False -GARD:19890 Choanal atresia, bilateral False False False -GARD:19891 Primary laryngeal lymphangioma False False False -GARD:19892 Neonatal brainstem dysfunction False False False -GARD:19893 Laryngotracheal angioma False False False -GARD:19894 Pierre Robin syndrome associated with collagen disease False False False -GARD:19895 Rare disease with Pierre Robin syndrome False False False -GARD:19896 Pierre Robin syndrome associated with a chromosomal anomaly False False False -GARD:19897 Pierre Robin syndrome associated with branchial archs anomalies False False False -GARD:19898 Pierre Robin syndrome associated with bone disease False False False -GARD:19899 Teratogenic Pierre Robin syndrome False False False -GARD:19900 Developmental anomaly of metabolic origin False False False -GARD:19901 Rare bone development disorder False False False -GARD:19902 Malformation syndrome with short stature False False False -GARD:19903 Overgrowth/obesity syndrome False False False -GARD:19904 Rare developmental defect with skin/mucosae involvement False False False -GARD:19905 Rare developmental defect with connective tissue involvement False False False -GARD:19906 Progeroid syndrome False False False -GARD:19907 Branchial arch or oral-acral syndrome False False False -GARD:19908 Orofacial clefting syndrome False False False -GARD:19909 Malformation syndrome with odontal and/or periodontal component False False False -GARD:19910 Non-syndromic craniosynostosis False False False -GARD:19911 Syndromic craniosynostosis False False False -GARD:19912 Congenital panfollicular nevus False False False -GARD:19913 Acute transverse myelitis False False False -GARD:19914 Idiopathic acute transverse myelitis False False False -GARD:19915 Perioral myoclonia with absences False False False -GARD:19916 Jeavons syndrome False False False -GARD:19917 Leukoencephalopathy with bilateral anterior temporal lobe cysts False False False -GARD:19918 Progressive cavitating leukoencephalopathy False False False -GARD:19919 Neuropathy with hearing impairment False False False -GARD:19920 Hereditary sensory and autonomic neuropathy with deafness and global delay False False False -GARD:19921 Inherited cancer-predisposing syndrome False False False -GARD:19922 Secondary hypoparathyroidism due to impaired parathormon secretion False False False -GARD:19923 Autosomal dominant hereditary demyelinating motor and sensory neuropathy False False False -GARD:19924 Autosomal dominant hereditary axonal motor and sensory neuropathy False False False -GARD:19925 Autosomal recessive hereditary demyelinating motor and sensory neuropathy False False False -GARD:19926 Autosomal dominant distal hereditary motor neuropathy False False False -GARD:19927 Autosomal recessive distal hereditary motor neuropathy False False False -GARD:19928 Autosomal dominant hereditary sensory and autonomic neuropathy False False False -GARD:19929 Autosomal recessive hereditary sensory and autonomic neuropathy False False False -GARD:1993 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome False False False -GARD:19930 Neuro-ophthalmological disease False False False -GARD:19931 Joubert syndrome and related disorders False False False -GARD:19932 Linear atrophoderma of Moulin False False False -GARD:19933 Low-flow priapism False False False -GARD:19934 First branchial cleft anomaly False False False -GARD:19935 Third branchial cleft anomaly False False False -GARD:19936 Fourth branchial cleft anomaly False False False -GARD:19937 Cervical dermoid cyst False False False -GARD:19938 Facial dermoid cyst False False False -GARD:19939 Commissural lip fistula False False False -GARD:1994 Dyschondrosteosis-nephritis syndrome False False False -GARD:19940 Lower lip fistula False False False -GARD:19941 Cervicofacial fibrochondroma False False False -GARD:19942 Digestive duplication cyst of the tongue False False False -GARD:19943 Epignathus False False False -GARD:19944 Nasolacrimal duct cyst False False False -GARD:19945 Polyrrhinia False False False -GARD:19946 Supernumerary nostril False False False -GARD:19947 Proboscis lateralis False False False -GARD:19948 Nasopharyngeal teratoma False False False -GARD:19949 Nasal glial heterotopia False False False -GARD:19950 Nasal ganglioglioma False False False -GARD:19951 Nasal encephalocele False False False -GARD:19952 Congenital subglottic stenosis False False False -GARD:19953 Congenital laryngeal cyst False False False -GARD:19954 Glossopalatine ankylosis False False False -GARD:19955 Frontonasal arteriovenous malformation False False False -GARD:19956 Maxillary arteriovenous malformation False False False -GARD:19957 Mandibular arteriovenous malformation False False False -GARD:19958 Rapidly involuting congenital hemangioma False False False -GARD:19959 Cerebrofacial arteriovenous metameric syndrome type 1 False False False -GARD:1996 Dyschromatosis universalis hereditaria False False False -GARD:19960 Cerebrofacial arteriovenous metameric syndrome type 3 False False False -GARD:19961 Diffuse lymphatic malformation False False False -GARD:19962 Isolated congenital syngnathia False False False -GARD:19963 Nasal dorsum fistula False False False -GARD:19964 Facial cleft False False False -GARD:19965 Median facial cleft False False False -GARD:19966 Median cleft of the upper lip and maxilla False False False -GARD:19967 Oblique facial cleft False False False -GARD:19968 Tessier number 5 facial cleft False False False -GARD:19969 Tessier number 6 facial cleft False False False -GARD:19970 Lateral facial cleft False False False -GARD:19971 Midline cervical cleft False False False -GARD:19972 Rare head and neck malformation False False False -GARD:19973 Cysts and fistulae of the face and oral cavity False False False -GARD:19974 Pinnae fistula or cyst False False False -GARD:19975 Paramedian facial cleft False False False -GARD:19976 Submucosal cleft palate False False False -GARD:19977 Coloboma of superior eyelid False False False -GARD:19978 Coloboma of inferior eyelid False False False -GARD:19979 Otomandibular dysplasia False False False -GARD:1998 Dysequilibrium syndrome False False False -GARD:19980 Mandibulofacial dysostosis False False False -GARD:19981 Predominantly large-vessel vasculitis False False False -GARD:19982 Predominantly medium-vessel vasculitis False False False -GARD:19983 Predominantly small-vessel vasculitis False False False -GARD:19984 Immune complex mediated vasculitis False False False -GARD:19985 Isolated dystonia False False False -GARD:19986 Renal ciliopathy False False False -GARD:19987 Retinal ciliopathy False False False -GARD:19988 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene False False False -GARD:19989 Retinal ciliopathy due to mutation in the RPGR gene False False False -GARD:1999 Congenital dyserythropoietic anemia False False False -GARD:19990 Retinal ciliopathy due to mutation in the RPGRIP gene False False False -GARD:19991 Retinal ciliopathy due to mutation in Usher gene False False False -GARD:19992 Retinal ciliopathy due to mutation in nephronophthisis gene False False False -GARD:19993 Retinal ciliopathy due to mutation in Bardet-Biedl gene False False False -GARD:19994 Otomandibular dysplasia associated with monogenic syndromes False False False -GARD:19995 Hypoglossia/aglossia False False False -GARD:19996 Oromandibular-limb anomalies syndrome False False False -GARD:19997 Paralytic facial malformation False False False -GARD:19998 Syndrome or malformation associated with head and neck malformations False False False -GARD:19999 Pinnae and external auditory canal anomaly False False False -GARD:200 Central serous chorioretinopathy False False False -GARD:2000 Congenital dyserythropoietic anemia type I False False False -GARD:20000 Nose and cavum anomaly False False False -GARD:20001 Larynx anomaly False False False -GARD:20002 Tracheal anomaly False False False -GARD:20003 Rare syndrome with cardiac malformations False False False -GARD:20004 Rare genetic hepatic disease False False False -GARD:20005 Genetic parenchymatous liver disease False False False -GARD:20006 Genetic biliary tract disease False False False -GARD:20007 Rare genetic respiratory disease False False False -GARD:20008 Rare genetic urogenital disease False False False -GARD:20009 Genetic urogenital tract malformation False False False -GARD:2001 Congenital dyserythropoietic anemia type II False False False -GARD:20010 Rare genetic cause of hypertension False False False -GARD:20011 Rare genetic endocrine disease False False False -GARD:20012 Genetic endocrine growth disease False False False -GARD:20013 Situs ambiguus False False False -GARD:20014 Epithelioid hemangioendothelioma False False False -GARD:20015 Congenital pseudoarthrosis of the limbs False False False -GARD:20016 Congenital epulis False False False -GARD:20017 Trigeminal autonomic cephalalgia False False False -GARD:20018 Generalized eruptive histiocytosis False False False -GARD:20019 Benign cephalic histiocytosis False False False -GARD:2002 Congenital dyserythropoietic anemia type III False False False -GARD:20020 Juvenile xanthogranuloma False False False -GARD:20021 Papular xanthoma False False False -GARD:20022 Indeterminate cell histiocytosis False False False -GARD:20023 Progressive nodular histiocytosis False False False -GARD:20024 Hemophagocytic syndrome False False False -GARD:20025 Primary hemophagocytic lymphohistiocytosis False False False -GARD:20026 Secondary hemophagocytic lymphohistiocytosis False False False -GARD:20027 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease False False False -GARD:20028 Genetic dementia False False False -GARD:20029 Huntington disease-like syndrome False False False -GARD:2003 Qualitative or quantitative defects of dysferlin False False False -GARD:20030 Rare genetic hematologic disease False False False -GARD:20031 Localized dystrophic epidermolysis bullosa, acral form False False False -GARD:20032 Localized dystrophic epidermolysis bullosa, nails only False False False -GARD:20033 Typical urticaria pigmentosa False False False -GARD:20034 Plaque-form urticaria pigmentosa False False False -GARD:20035 Nodular urticaria pigmentosa False False False -GARD:20036 Smoldering systemic mastocytosis False False False -GARD:20037 Isolated bone marrow mastocytosis False False False -GARD:20038 Cap polyposis False False False -GARD:20039 Isolated congenital nasal pyriform aperture stenosis False False False -GARD:2004 Familial dysfibrinogenemia False False False -GARD:20040 Isolated congenital auditory ossicle malformation False False False -GARD:20041 Non-syndromic cerebral malformation due to abnormal neuronal migration False False False -GARD:20042 Subacute cutaneous lupus erythematosus False False False -GARD:20043 Chronic cutaneous lupus erythematosus False False False -GARD:20044 Rare bacterial infectious disease False False False -GARD:20045 Rare viral disease False False False -GARD:20046 Rare parasitic disease False False False -GARD:20047 Rare mycosis False False False -GARD:20048 Bile acid synthesis defect with cholestasis and malabsorption False False False -GARD:20049 Rare disorder related with pregnancy, childbirth and puerperium False False False -GARD:2005 Extragonadal germinoma False False False -GARD:20050 Cryptogenic late-onset epileptic spasms False False False -GARD:20051 Posttransplant acute limbic encephalitis False False False -GARD:20052 Acrodermatitis continua of Hallopeau False False False -GARD:20053 Atopic keratoconjunctivitis False False False -GARD:20054 X-linked intellectual disability, Cilliers type False False False -GARD:20055 Rare odontal or periodontal disorder False False False -GARD:20056 Middle ear anomaly False False False -GARD:20057 Acute myeloid leukemia and myelodysplastic syndromes related to radiation False False False -GARD:20058 Rare acquired aplastic anemia False False False -GARD:20059 Rare genetic gastroenterological disease False False False -GARD:20060 Genetic intestinal disease False False False -GARD:20061 Genetic gastro-esophageal disease False False False -GARD:20062 Genetic pancreatic disease False False False -GARD:20063 Non-syndromic urogenital tract malformation False False False -GARD:20064 Syndromic urogenital tract malformation False False False -GARD:20065 Wound myiasis False False False -GARD:20066 Cavitary myiasis False False False -GARD:20067 Diazoxide-sensitive diffuse hyperinsulinism False False False -GARD:20068 Diazoxide-resistant diffuse hyperinsulinism False False False -GARD:20069 Bazex syndrome False False False -GARD:2007 Dyskeratosis congenita, x-linked False False False -GARD:20070 Porokeratotic eccrine ostial and dermal duct nevus False False False -GARD:20071 Benign non-familial infantile seizures False False False -GARD:20072 Benign partial epilepsy of infancy with complex partial seizures False False False -GARD:20073 Benign partial epilepsy with secondarily generalized seizures in infancy False False False -GARD:20074 Benign infantile seizures associated with mild gastroenteritis False False False -GARD:20075 Benign infantile focal epilepsy with midline spikes and waves during sleep False False False -GARD:20076 Benign partial infantile seizures False False False -GARD:20077 Audiogenic seizures False False False -GARD:20078 Eating reflex epilepsy False False False -GARD:20079 Orgasm-induced seizures False False False -GARD:20080 Thinking seizures False False False -GARD:20081 Startle epilepsy False False False -GARD:20082 Micturation-induced seizures False False False -GARD:20083 Epilepsy syndrome False False False -GARD:20084 Neurocutaneous syndrome with epilepsy False False False -GARD:20085 Chromosomal anomaly with epilepsy as a major feature False False False -GARD:20086 Monogenic disease with epilepsy False False False -GARD:20087 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes False False False -GARD:20088 Cerebral malformation with epilepsy False False False -GARD:20089 Metabolic diseases with epilepsy False False False -GARD:2009 Dysmorphism-cleft palate-loose skin syndrome False False False -GARD:20090 Inflammatory and autoimmune disease with epilepsy False False False -GARD:20091 Cerebral diseases of vascular origin with epilepsy False False False -GARD:20092 Infectious disease with epilepsy False False False -GARD:20093 Rare hemorrhagic disorder due to an acquired coagulation factor defect False False False -GARD:20094 Hereditary dentin defect False False False -GARD:20095 Rare disease with dentinogenesis imperfecta False False False -GARD:20096 Rare cardiomyopathy False False False -GARD:20097 Rare cardiac tumor False False False -GARD:20098 Dysplasia of head of femur, Meyer type False False False -GARD:20099 Rare pervasive developmental disorder False False False -GARD:201 Ascher syndrome False False False -GARD:20100 Primary peritoneal tumor False False False -GARD:20101 Primary malignant peritoneal tumor False False False -GARD:20102 Malignant peritoneal mesothelioma False False False -GARD:20103 Primary peritoneal carcinoma False False False -GARD:20104 Chronic eosinophilic leukemia False False False -GARD:20105 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 False False False -GARD:20106 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement False False False -GARD:20107 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement False False False -GARD:20108 Refractory anemia with excess blasts in transformation False False False -GARD:20109 Composite lymphoma False False False -GARD:20110 Malignant melanoma of the mucosa False False False -GARD:20111 Immunoglobulin heavy chain deficiency False False False -GARD:20112 Transient hypogammaglobulinemia of infancy False False False -GARD:20113 Familial scaphocephaly syndrome False False False -GARD:20114 DNA repair defect other than combined T-cell and B-cell immunodeficiencies False False False -GARD:20115 Immuno-osseous dysplasia False False False -GARD:20116 Immunodeficiency syndrome with autoimmunity False False False -GARD:20117 Immune dysregulation disease with immunodeficiency False False False -GARD:20118 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells False False False -GARD:20119 Idiopathic central precocious puberty False False False -GARD:2012 Dysosteosclerosis False False False -GARD:20120 Secondary central precocious puberty False False False -GARD:20121 Congenital vitamin K-dependent coagulation factors deficiency False False False -GARD:20122 Rectal duplication False False False -GARD:20123 Limbal stem cell deficiency False False False -GARD:20124 Idiopathic bilateral vestibulopathy False False False -GARD:20125 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome False False False -GARD:20126 6q16 microdeletion syndrome False False False -GARD:20127 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome False False False -GARD:20128 Intellectual disability-cataracts-kyphosis syndrome False False False -GARD:20129 Myopathy with hexagonally cross-linked tubular arrays False False False -GARD:2013 Robinow syndrome, autosomal dominant 1 False False False -GARD:20130 Myeloid hemopathy False False False -GARD:20131 Lymphoid hemopathy False False False -GARD:20132 B-cell non-Hodgkin lymphoma False False False -GARD:20133 T-cell non-Hodgkin lymphoma False False False -GARD:20134 Congenital myopathy with cores False False False -GARD:20135 Congenital hypogonadotropic hypogonadism False False False -GARD:20136 Rare adult hypothyroidism False False False -GARD:20137 Syndromic hypothyroidism False False False -GARD:20138 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 False False False -GARD:20139 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 False False False -GARD:20140 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations False False False -GARD:20141 Rare peripheral precocious puberty False False False -GARD:20142 Transient congenital hypothyroidism False False False -GARD:20143 Antenatal multiminicore disease with arthrogryposis multiplex congenita False False False -GARD:20144 Isolated sternocostoclavicular hyperostosis False False False -GARD:20145 Undifferentiated embryonal sarcoma of the liver False False False -GARD:20146 Acute lung injury False False False -GARD:20147 Osteosclerosis-developmental delay-craniosynostosis syndrome False False False -GARD:20148 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation False False False -GARD:20149 Wound botulism False False False -GARD:2015 Peripheral dysostosis False False False -GARD:20150 Infant botulism False False False -GARD:20151 Intestinal botulism False False False -GARD:20152 Adult intestinal botulism False False False -GARD:20153 Myopic macular degeneration False False False -GARD:20154 Folliculotropic mycosis fungoides False False False -GARD:20155 Localized pagetoid reticulosis False False False -GARD:20156 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma False False False -GARD:20157 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma False False False -GARD:20158 Primary cutaneous gamma/delta-positive T-cell lymphoma False False False -GARD:20159 Primary cutaneous marginal zone B-cell lymphoma False False False -GARD:2016 Dysostosis, Stanescu type False False False -GARD:20160 Primary cutaneous diffuse large B-cell lymphoma, leg type False False False -GARD:20161 Indolent primary cutaneous T-cell lymphoma False False False -GARD:20162 Aggressive primary cutaneous T-cell lymphoma False False False -GARD:20163 Aggressive primary cutaneous B-cell lymphoma False False False -GARD:20164 Indolent primary cutaneous B-cell lymphoma False False False -GARD:20165 Primary cutaneous B-cell lymphoma False False False -GARD:20166 Mycosis fungoides and variants False False False -GARD:20167 Acquired neutropenia False False False -GARD:20168 Primary immunodeficiency due to a defect in adaptive immunity False False False -GARD:20169 Obesity due to congenital leptin resistance False False False -GARD:20170 Uterovaginal malformation False False False -GARD:20171 Non-syndromic uterovaginal malformation False False False -GARD:20172 Partial bilateral aplasia of the Müllerian ducts False False False -GARD:20173 Unilateral aplasia of the Müllerian ducts False False False -GARD:20174 True unicornuate uterus False False False -GARD:20175 Pseudounicornuate uterus False False False -GARD:20176 Didelphys uterus False False False -GARD:20177 Bicervical bicornuate uterus and blind hemivagina False False False -GARD:20178 Bicervical bicornuate uterus with patent cervix and vagina False False False -GARD:20179 Unicervical bicornuate uterus False False False -GARD:20180 Septate uterus False False False -GARD:20181 Complete septate uterus False False False -GARD:20182 Partial septate uterus False False False -GARD:20183 Bicornuate uterus False False False -GARD:20184 Uterine hypoplasia False False False -GARD:20185 Absence of uterine body False False False -GARD:20186 Uterine cervical aplasia and agenesis False False False -GARD:20187 Syndromic uterovaginal malformation False False False -GARD:20188 Rare vaginal malformation False False False -GARD:20189 Septate vagina False False False -GARD:2019 Dysplasia epiphysealis hemimelica False False False -GARD:20190 Longitudinal vaginal septum False False False -GARD:20191 Transverse vaginal septum False False False -GARD:20192 Rare breast malformation False False False -GARD:20193 Excess breast volume or number False False False -GARD:20194 Deficient breast volume or number False False False -GARD:20195 Supernumerary breasts False False False -GARD:20196 Syndromic breast hypoplasia/aplasia False False False -GARD:20197 Rare non-malformative gynecologic or obstetric disease False False False -GARD:20198 Rare non-malformative breast disease False False False -GARD:20199 Rare non-malformative uterovaginal or vulvovaginal disease False False False -GARD:20200 Anomaly of puberty or/and menstrual cycle False False False -GARD:20201 Rare uterine adnexal tumor False False False -GARD:20202 Mixed germ cell tumor False False False -GARD:20203 Benign tumor of fallopian tubes False False False -GARD:20204 Malignant tumor of fallopian tubes False False False -GARD:20205 Rare breast tumor False False False -GARD:20206 Giant adenofibroma of the breast False False False -GARD:20207 Rare non-malformative uterine adnexal disease False False False -GARD:20208 Rare vulvovaginal tumor False False False -GARD:20209 Malformative syndrome with dentinogenesis imperfecta False False False -GARD:20211 Non-syndromic diaphragmatic or thoracic malformation False False False -GARD:20212 Syndromic diaphragmatic or thoracic malformation False False False -GARD:20213 Rare gastroesophageal tumor False False False -GARD:20214 Rare insulin-resistance syndrome False False False -GARD:20215 Rare diabetes mellitus type 1 False False False -GARD:20216 Rare diabetes mellitus type 2 False False False -GARD:20217 Other rare diabetes mellitus False False False -GARD:20218 Rare hypothalamic or pituitary disease False False False -GARD:20219 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism False False False -GARD:2022 Dysplastic cortical hyperostosis False False False -GARD:20220 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature False False False -GARD:20221 Rare hypothyroidism False False False -GARD:20222 Rare hyperthyroidism False False False -GARD:20223 Syndrome with hypoparathyroidism False False False -GARD:20224 Rare hypoparathyroidism False False False -GARD:20225 Rare hyperparathyroidism False False False -GARD:20226 Adrenogenital syndrome False False False -GARD:20227 Rare primary hyperaldosteronism False False False -GARD:20228 Rare hypoaldosteronism False False False -GARD:20229 Rare hyperlipidemia False False False -GARD:20230 Hyperalphalipoproteinemia False False False -GARD:20231 Rare hypolipidemia False False False -GARD:20232 Rare syndromic dyslipidemia False False False -GARD:20233 Rare disorder with hypergonadotropic hypogonadism False False False -GARD:20234 Aplastic anemia False False False -GARD:20235 Rare constitutional hemolytic anemia False False False -GARD:20236 Rare acquired hemolytic anemia False False False -GARD:20237 Rare thrombotic disease of hematologic origin False False False -GARD:20238 Cerebellar malformation False False False -GARD:20239 Rare neuroinflammatory or neuroimmunological disease False False False -GARD:20240 Rare neurodegenerative disease False False False -GARD:20241 ARX-related epileptic encephalopathy False False False -GARD:20242 Channelopathy with epilepsy False False False -GARD:20243 Acquired peripheral neuropathy False False False -GARD:20244 Interstitial lung disease False False False -GARD:20245 Pneumoconiosis False False False -GARD:20246 Idiopathic eosinophilic pneumonia False False False -GARD:20247 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease False False False -GARD:20248 Thoracic malformation False False False -GARD:20249 Respiratory malformation False False False -GARD:20250 Rare urogenital tumor False False False -GARD:20251 Non-syndromic urogenital tract malformation of female False False False -GARD:20252 Non-syndromic urogenital tract malformation of male False False False -GARD:20253 Non-syndromic urogenital tract malformation of male and female False False False -GARD:20254 Tumor of endocrine glands False False False -GARD:20255 Rare systemic disease False False False -GARD:20256 Systemic autoimmune disease False False False -GARD:20257 Rare rheumatologic disease False False False -GARD:20258 Genetic urticaria False False False -GARD:20259 Polymalformative genetic syndrome with increased risk of developing cancer False False False -GARD:2026 Dyssegmental dysplasia, Silverman-Handmaker type False False False -GARD:20260 Genetic epidermal disorder False False False -GARD:20261 Inherited ichthyosis False False False -GARD:20262 Genetic erythrokeratoderma False False False -GARD:20263 Genetic acrokeratoderma False False False -GARD:20264 Genetic porokeratosis False False False -GARD:20265 Genetic epidermal appendage anomaly False False False -GARD:20266 Genetic hair anomaly False False False -GARD:20267 Genetic nail anomaly False False False -GARD:20268 Genetic sebaceous gland anomaly False False False -GARD:20269 Genetic pigmentation anomaly of the skin False False False -GARD:2027 Early-onset generalized limb-onset dystonia False False False -GARD:20270 Genetic hyperpigmentation of the skin False False False -GARD:20271 Genetic hypopigmentation of the skin False False False -GARD:20272 Genetic dermis disorder False False False -GARD:20273 Genetic skin vascular disorder False False False -GARD:20274 Genetic mixed dermis disorder False False False -GARD:20275 Genetic subcutaneous tissue disorder False False False -GARD:20276 Genetic skin tumor or hamartoma False False False -GARD:20277 Genetic photodermatosis False False False -GARD:20278 Genetic immune deficiency with skin involvement False False False -GARD:20279 Genetic neuromuscular disease False False False -GARD:2028 Primary dystonia, DYT2 type False False False -GARD:20280 Genetic neurodegenerative disease False False False -GARD:20281 Genetic central nervous system and retinal vascular disease False False False -GARD:20282 Genetic central nervous system malformation False False False -GARD:20283 Rare genetic headache False False False -GARD:20284 Rare genetic epilepsy False False False -GARD:20285 Rare genetic medullar disease False False False -GARD:20286 Rare hereditary ataxia False False False -GARD:20287 Rare genetic movement disorder False False False -GARD:20288 Rare genetic bone disease False False False -GARD:20289 Genetic bone tumor False False False -GARD:20290 Rare genetic developmental defect during embryogenesis False False False -GARD:20291 Genetic multiple congenital anomalies/dysmorphic syndrome False False False -GARD:20292 Genetic congenital limb malformation False False False -GARD:20293 Genetic renal or urinary tract malformation False False False -GARD:20294 Genetic cranial malformation False False False -GARD:20295 Genetic digestive tract malformation False False False -GARD:20296 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen False False False -GARD:20297 Genetic respiratory or mediastinal malformation False False False -GARD:20298 Genetic developmental defect of the eye False False False -GARD:20299 Genetic malformation syndrome with short stature False False False -GARD:20300 Genetic overgrowth/obesity syndrome False False False -GARD:20301 Genetic branchial arch or oral-acral syndrome False False False -GARD:20302 Genetic malformation syndrome with odontal and/or periodontal component False False False -GARD:20303 Genetic head and neck malformation False False False -GARD:20304 Genetic glomerular disease False False False -GARD:20305 Genetic thrombotic microangiopathy False False False -GARD:20306 Genetic renal tubular disease False False False -GARD:20307 Genetic renal tumor False False False -GARD:20308 Genetic lens and zonula anomaly False False False -GARD:20309 Genetic neuro-ophthalmological disease False False False -GARD:2031 Qualitative or quantitative defects of dystrophin False False False -GARD:20310 Genetic eye tumor False False False -GARD:20311 Genetic respiratory malformation False False False -GARD:20312 Rare genetic diabetes mellitus False False False -GARD:20313 Rare genetic hypothalamic or pituitary disease False False False -GARD:20314 Rare genetic thyroid disease False False False -GARD:20315 Rare genetic parathyroid disease and phosphocalcic metabolism disorder False False False -GARD:20316 Rare genetic adrenal disease False False False -GARD:20317 Genetic polyendocrinopathy False False False -GARD:20318 Rare constitutional anemia False False False -GARD:20319 Rare genetic coagulation disorder False False False -GARD:20320 Agammaglobulinemia False False False -GARD:20321 Functional neutrophil defect False False False -GARD:20322 Genetic susceptibility to infections due to particular pathogens False False False -GARD:20323 Rare genetic gynecological and obstetrical diseases False False False -GARD:20324 Genetic gynecological tumor False False False -GARD:20325 Rare genetic intellectual disability False False False -GARD:20326 Rare genetic syndromic intellectual disability False False False -GARD:20327 Rare genetic immune disease False False False -GARD:20328 Superficial fibromatosis False False False -GARD:20329 Calcifying aponeurotic fibroma False False False -GARD:2033 Ear-patella-short stature syndrome False False False -GARD:20330 Congenital microgastria False False False -GARD:20331 Late-onset isolated ACTH deficiency False False False -GARD:20332 Tetragametic chimerism False False False -GARD:20333 Endophthalmitis False False False -GARD:20334 Isolated autosomal dominant hypomagnesemia, Glaudemans type False False False -GARD:20335 Congenital myopathy, Paradas type False False False -GARD:20336 Atypical autism False False False -GARD:20337 Isolated cerebellar vermis hypoplasia False False False -GARD:20338 Non-syndromic cerebral malformation False False False -GARD:20339 Syndrome with corpus callosum agenesis/dysgenesis as a major feature False False False -GARD:20340 Paroxysmal dystonia False False False -GARD:20341 Anomaly of puberty or/and menstrual cycle of genetic origin False False False -GARD:20342 Syndromic microphthalmia-anophthalmia-coloboma False False False -GARD:20343 Infantile Krabbe disease False False False -GARD:20344 Late-infantile/juvenile Krabbe disease False False False -GARD:20345 Adult Krabbe disease False False False -GARD:20346 Cystadenoma of childhood False False False -GARD:20347 Malignant germ cell tumor of the vagina False False False -GARD:20348 Vulvovaginal rhabdomyosarcoma False False False -GARD:20349 Malignant non-dysgerminomatous germ cell tumor of ovary False False False -GARD:2035 Ebola hemorrhagic fever False False False -GARD:20350 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers False False False -GARD:20351 Immune-mediated necrotizing myopathy False False False -GARD:20352 Overlap myositis False False False -GARD:20353 Rippling muscle disease with myasthenia gravis False False False -GARD:20354 Neurolymphomatosis False False False -GARD:20355 Subacute inflammatory demyelinating polyneuropathy False False False -GARD:20356 Isolated asymptomatic elevation of creatine phosphokinase False False False -GARD:20357 Infectious disease with peripheral neuropathy False False False -GARD:20358 Genetic skeletal muscle disease False False False -GARD:20359 Acquired skeletal muscle disease False False False -GARD:20360 Progressive muscular dystrophy False False False -GARD:20361 Autosomal dominant distal myopathy False False False -GARD:20362 Autosomal recessive distal myopathy False False False -GARD:20363 Non-dystrophic myopathy False False False -GARD:20364 Inclusion myopathy False False False -GARD:20365 Bulbospinal muscular atrophy False False False -GARD:20366 Bulbospinal muscular atrophy of childhood False False False -GARD:20367 Bulbospinal muscular atrophy of adult False False False -GARD:20368 Generalized bulbospinal muscular atrophy False False False -GARD:20369 Muscular lipidosis False False False -GARD:20370 Muscular glycogenosis False False False -GARD:20371 Mitochondrial myopathy False False False -GARD:20372 Myotonic syndrome False False False -GARD:20373 Congenital myotonia False False False -GARD:20374 Periodic paralysis False False False -GARD:20375 Muscular tumor False False False -GARD:20376 Infectious, fungal or parasitic myopathy False False False -GARD:20377 Viral myositis False False False -GARD:20378 Bacterial myositis False False False -GARD:20379 Parasitic myositis False False False -GARD:20380 Fungal myositis False False False -GARD:20381 Spinal muscular atrophy associated with central nervous system anomaly False False False -GARD:20382 Rare hereditary metabolic disease with peripheral neuropathy False False False -GARD:20383 Rare hereditary systemic disease with peripheral neuropathy False False False -GARD:20384 Rare hereditary neurologic disease with peripheral neuropathy False False False -GARD:20385 Cerebellar ataxia with peripheral neuropathy False False False -GARD:20386 Acute and subacute inflammatory demyelinating polyneuropathy False False False -GARD:20387 Malignant lymphoma with peripheral neuropathy False False False -GARD:20388 Qualitative or quantitative protein defects in neuromuscular diseases False False False -GARD:20389 Qualitative or quantitative defects of sarcoglycan False False False -GARD:20390 Qualitative or quantitative defects of alpha-sarcoglycan False False False -GARD:20391 Qualitative or quantitative defects of beta-sarcoglycan False False False -GARD:20392 Qualitative or quantitative defects of gamma-sarcoglycan False False False -GARD:20393 Qualitative or quantitative defects of delta-sarcoglycan False False False -GARD:20394 Qualitative or quantitative defects of caveolin-3 False False False -GARD:20395 Qualitative or quantitative defects of collagen 6 False False False -GARD:20396 Laminin subunit alpha 2-related muscular dystrophy False False False -GARD:20397 Qualitative or quantitative defects of integrin alpha-7 False False False -GARD:20398 Qualitative or quantitative defects of perlecan False False False -GARD:20399 Qualitative or quantitative defects of calpain False False False -GARD:20400 Qualitative or quantitative defects of TRIM32 False False False -GARD:20401 Qualitative or quantitative defects of myotubularin False False False -GARD:20402 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan False False False -GARD:20403 Qualitative or quantitative defects of FKRP False False False -GARD:20404 Qualitative or quantitative defects of fukutin False False False -GARD:20405 Autosomal dominant cerebellar ataxia type II False False False -GARD:20406 Herpetiform pemphigus False False False -GARD:20407 Genetic hypoparathyroidism False False False -GARD:20408 Genetic hyperparathyroidism False False False -GARD:20409 Chronic acquired demyelinating polyneuropathy False False False -GARD:20410 Chronic polyradiculoneuropathy False False False -GARD:20411 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies False False False -GARD:20412 Acquired sensory ganglionopathy False False False -GARD:20413 Non-paraneoplastic sensory ganglionopathy False False False -GARD:20414 Paraneoplastic sensory ganglionopathy False False False -GARD:20415 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy False False False -GARD:20416 Systemic inflammatory disease associated with an acquired peripheral neuropathy False False False -GARD:20417 Peripheral neuropathy associated with monoclonal gammopathy False False False -GARD:20418 Acquired amyloid peripheral neuropathy False False False -GARD:20419 Hematological disease associated with an acquired peripheral neuropathy False False False -GARD:20420 Solid tumor associated with an acquired peripheral neuropathy False False False -GARD:20421 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase False False False -GARD:20422 Qualitative or quantitative defects of protein glycosyltransferase-like False False False -GARD:20423 Qualitative or quantitative defects of protein O-mannosyltransferase 1 False False False -GARD:20424 Qualitative or quantitative defects of protein O-mannosyltransferase 2 False False False -GARD:20425 Qualitative or quantitative defects of myofibrillar proteins False False False -GARD:20426 Qualitative or quantitative defects of desmin False False False -GARD:20427 Qualitative or quantitative defects of alphaB-cristallin False False False -GARD:20428 Qualitative or quantitative defects of filamin C False False False -GARD:20429 Qualitative or quantitative defects of protein ZASP False False False -GARD:20430 Qualitative or quantitative defects of titin False False False -GARD:20431 Qualitative or quantitative defects of telethonin False False False -GARD:20432 Qualitative or quantitative defects of alpha-actin False False False -GARD:20433 Qualitative or quantitative defects of nebulin False False False -GARD:20434 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) False False False -GARD:20435 Qualitative or quantitative defects of emerin False False False -GARD:20436 Qualitative or quantitative defects of selenoprotein N1 False False False -GARD:20437 Qualitative or quantitative defects of plectin False False False -GARD:20438 Qualitative or quantitative defects of protein SERCA1 False False False -GARD:20439 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - False False False -GARD:2044 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome False False False -GARD:20440 Myotilinopathy False False False -GARD:20441 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency False False False -GARD:20442 Idiopathic uveal effusion syndrome False False False -GARD:20443 Phacoanaphylactic uveitis False False False -GARD:20444 Solitary rectal ulcer syndrome False False False -GARD:20445 Benign nocturnal alternating hemiplegia of childhood False False False -GARD:20446 Alternating hemiplegia False False False -GARD:20447 Non-papillary transitional cell carcinoma of the bladder False False False -GARD:20448 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome False False False -GARD:20449 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome False False False -GARD:2045 Ectodermal dysplasia-blindness syndrome False False False -GARD:20450 Congenital temporomandibular joint ankylosis False False False -GARD:20451 Temporomandibular joint anomaly False False False -GARD:20452 Spindle cell hemangioma False False False -GARD:20453 Infantile hemangioma of rare localization False False False -GARD:20454 Autosomal dominant proximal spinal muscular atrophy False False False -GARD:20455 Specific learning disability False False False -GARD:20456 Specific language disorder False False False -GARD:20457 Hereditary episodic ataxia False False False -GARD:20458 Rare vascular tumor False False False -GARD:20459 Genetic vascular anomaly False False False -GARD:20460 Simple vascular malformation False False False -GARD:20461 Rare capillary malformation False False False -GARD:20462 Rare venous malformation False False False -GARD:20463 Rare lymphatic system anomaly False False False -GARD:20464 Rare arteriovenous malformation False False False -GARD:20465 Complex vascular malformation with associated anomalies False False False -GARD:20466 Adenocarcinoma of ovary False False False -GARD:20467 Familial ovarian cancer False False False -GARD:20468 Hereditary site-specific ovarian cancer syndrome False False False -GARD:20469 Rare uterine cancer False False False -GARD:20470 Rare cancer of corpus uteri False False False -GARD:20471 Rare variants of adenocarcinoma of the corpus uteri False False False -GARD:20472 Malignant mixed epithelial and mesenchymal tumor of corpus uteri False False False -GARD:20473 Adenosarcoma of the corpus uteri False False False -GARD:20474 Carcinofibroma of the corpus uteri False False False -GARD:20475 Rhabdomyosarcoma of the corpus uteri False False False -GARD:20476 Sarcoma of the corpus uteri False False False -GARD:20477 Leiomyosarcoma of the corpus uteri False False False -GARD:20478 Primitive neuroectodermal tumor of the corpus uteri False False False -GARD:20479 Squamous cell carcinoma of the corpus uteri False False False -GARD:2048 Autosomal dominant hypohidrotic ectodermal dysplasia False False False -GARD:20480 Undifferentiated carcinoma of the corpus uteri False False False -GARD:20481 Serous carcinoma of the corpus uteri False False False -GARD:20482 High-grade neuroendocrine carcinoma of the corpus uteri False False False -GARD:20483 Low-grade neuroendocrine tumor of the corpus uteri False False False -GARD:20484 Transitional cell carcinoma of the corpus uteri False False False -GARD:20485 Malignant germ cell tumor of the corpus uteri False False False -GARD:20486 Rare cancer of cervix uteri False False False -GARD:20487 Squamous cell carcinoma of the cervix uteri False False False -GARD:20488 Adenocarcinoma of the cervix uteri False False False -GARD:20489 High-grade neuroendocrine carcinoma of the cervix uteri False False False -GARD:2049 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome False False False -GARD:20490 Malignant mixed epithelial and mesenchymal tumor of cervix uteri False False False -GARD:20491 Carcinosarcoma of the cervix uteri False False False -GARD:20492 Adenosarcoma of the cervix uteri False False False -GARD:20493 Sarcoma of cervix uteri False False False -GARD:20494 Rhabdomyosarcoma of the cervix uteri False False False -GARD:20495 Leiomyosarcoma of the cervix uteri False False False -GARD:20496 Primitive neuroectodermal tumor of the cervix uteri False False False -GARD:20497 Papillary carcinoma of the cervix uteri False False False -GARD:20498 Adenoid cystic carcinoma of the cervix uteri False False False -GARD:20499 Adenoid basal carcinoma of the cervix uteri False False False -GARD:20500 Glassy cell carcinoma of the cervix uteri False False False -GARD:20501 Malignant germ cell tumor of the cervix uteri False False False -GARD:20502 Isolated congenitally uncorrected transposition of the great arteries False False False -GARD:20503 Congenitally uncorrected transposition of the great arteries with cardiac malformation False False False -GARD:20504 Niemann-Pick disease type C, severe perinatal form False False False -GARD:20505 Niemann-Pick disease type C, severe early infantile neurologic onset False False False -GARD:20506 Niemann-Pick disease type C, late infantile neurologic onset False False False -GARD:20507 Niemann-Pick disease type C, juvenile neurologic onset False False False -GARD:20508 Niemann-Pick disease type C, adult neurologic onset False False False -GARD:20509 5-fluorouracil poisoning False False False -GARD:20510 Pouchitis False False False -GARD:20511 Rare carcinoma of pancreas False False False -GARD:20512 Pulmonary fungal infections in patients deemed at risk False False False -GARD:20513 NMDA receptor encephalitis False False False -GARD:20514 Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation False False False -GARD:20515 Rare hereditary thrombophilia False False False -GARD:20516 Pulmonary interstitial glycogenosis False False False -GARD:20517 Neuroendocrine cell hyperplasia of infancy False False False -GARD:20518 Rare hypertrophic cardiomyopathy False False False -GARD:20519 Glycogen storage disease with hypertrophic cardiomyopathy False False False -GARD:20520 Lysosomal disease with hypertrophic cardiomyopathy False False False -GARD:20521 Mitochondrial disease with hypertrophic cardiomyopathy False False False -GARD:20522 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy False False False -GARD:20523 Syndrome associated with hypertrophic cardiomyopathy False False False -GARD:20524 Non-familial hypertrophic cardiomyopathy False False False -GARD:20525 Familial dilated cardiomyopathy False False False -GARD:20526 Neuromuscular disease with dilated cardiomyopathy False False False -GARD:20527 Mitochondrial disease with dilated cardiomyopathy False False False -GARD:20528 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy False False False -GARD:20529 Syndrome associated with dilated cardiomyopathy False False False -GARD:20530 Non-familial dilated cardiomyopathy False False False -GARD:20531 Restrictive cardiomyopathy False False False -GARD:20532 Familial restrictive cardiomyopathy False False False -GARD:20533 Lysosomal disease with restrictive cardiomyopathy False False False -GARD:20534 Unclassified cardiomyopathy False False False -GARD:20535 Non-familial restrictive cardiomyopathy False False False -GARD:20536 Rare cardiac rhythm disease False False False -GARD:20537 Non-genetic cardiac rhythm disease False False False -GARD:20538 Macrothrombocytopenia with mitral valve insufficiency False False False -GARD:20539 Isolated hereditary giant platelet disorder False False False -GARD:20540 Rare hereditary hemochromatosis False False False -GARD:20541 Combined hyperactive dysfunction syndrome of the cranial nerves False False False -GARD:20542 Cranial neuralgia False False False -GARD:20543 Acquired peripheral movement disorder False False False -GARD:20544 Confetti-like macular atrophy False False False -GARD:20545 Hereditary poikiloderma False False False -GARD:20546 Mitochondrial oxidative phosphorylation disorder False False False -GARD:20547 Bone sarcoma False False False -GARD:20548 Lymphoma False False False -GARD:20549 Sporadic infantile bilateral striatal necrosis False False False -GARD:2055 Ectodermal dysplasia, trichoodontoonychial type False False False -GARD:20550 Lysosomal disease with epilepsy False False False -GARD:20551 Peroxisomal disease with epilepsy False False False -GARD:20552 Amino acid or protein metabolism disease with epilepsy False False False -GARD:20553 Metal transport or utilization disorder with epilepsy False False False -GARD:20554 Energy metabolism disorder with epilepsy False False False -GARD:20555 Mitochondrial disease with epilepsy False False False -GARD:20556 Mitochondrial disease with peripheral neuropathy False False False -GARD:20557 Metabolic neurotransmission anomaly with epilepsy False False False -GARD:20558 Sterol metabolism disorder with epilepsy False False False -GARD:20559 Other metabolic disease with epilepsy False False False -GARD:2056 Hidrotic ectodermal dysplasia False False False -GARD:20560 Permanent congenital hypothyroidism False False False -GARD:20561 Primary congenital hypothyroidism False False False -GARD:20562 Hypothyroidism due to deficient transcription factors involved in pituitary development or function False False False -GARD:20563 Congenital hypothyroidism due to maternal intake of antithyroid drugs False False False -GARD:20564 Genetic transient congenital hypothyroidism False False False -GARD:20565 Multiple system atrophy, cerebellar type False False False -GARD:20566 Toxic oil syndrome False False False -GARD:20567 Autoimmune polyendocrinopathy type 4 False False False -GARD:20568 Anal fistula False False False -GARD:20569 Hughes-Stovin syndrome False False False -GARD:2057 Autosomal recessive hypohidrotic ectodermal dysplasia False False False -GARD:20570 Fusariosis False False False -GARD:20571 Multiple sclerosis variant False False False -GARD:20572 Marburg acute multiple sclerosis False False False -GARD:20573 Heart-hand syndrome False False False -GARD:20574 Genetic dermis elastic tissue disorder False False False -GARD:20575 Acquired dermis elastic tissue disorder False False False -GARD:20576 Acquired dermis elastic tissue disorder with decreased elastic tissue False False False -GARD:20577 Acquired dermis elastic tissue disorder with increased elastic tissue False False False -GARD:20578 Late-onset focal dermal elastosis False False False -GARD:20579 Linear focal elastosis False False False -GARD:20580 Elastofibroma dorsi False False False -GARD:20581 Acquired pseudoxanthoma elasticum False False False -GARD:20582 Elastoma False False False -GARD:20583 Papular elastorrhexis False False False -GARD:20584 Primary anetoderma False False False -GARD:20585 Familial anetoderma False False False -GARD:20586 Acquired cutis laxa False False False -GARD:20587 White fibrous papulosis of the neck False False False -GARD:20588 Pseudoxanthoma elasticum-like papillary dermal elastolysis False False False -GARD:20589 Mid-dermal elastolysis False False False -GARD:20590 Autoimmune hemolytic anemia, cold type False False False -GARD:20591 Foodborne botulism False False False -GARD:20592 Virus-associated trichodysplasia spinulosa False False False -GARD:20593 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome False False False -GARD:20594 Polyvalvular heart disease syndrome False False False -GARD:20595 5q35 microduplication syndrome False False False -GARD:20596 Syndromic agammaglobulinemia False False False -GARD:20597 Toxin-mediated infectious botulism False False False -GARD:20598 High-grade dysplasia in patients with Barrett esophagus False False False -GARD:20599 Drug-induced lupus erythematosus False False False -GARD:206 Nephronophthisis False False False -GARD:2060 Ectopia lentis 2, isolated, autosomal recessive False False False -GARD:20600 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 False False False -GARD:20601 Beckwith-Wiedemann syndrome due to 11p15 microdeletion False False False -GARD:20602 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion False False False -GARD:20603 Silver-Russell syndrome due to 7p11.2p13 microduplication False False False -GARD:20604 Silver-Russell syndrome due to an imprinting defect of 11p15 False False False -GARD:20605 Silver-Russell syndrome due to 11p15 microduplication False False False -GARD:20606 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 False False False -GARD:20607 Beta-thalassemia associated with another hemoglobin anomaly False False False -GARD:20608 Hemoglobin C-beta-thalassemia syndrome False False False -GARD:20609 Hemoglobin E-beta-thalassemia syndrome False False False -GARD:20610 Beta-thalassemia with other manifestations False False False -GARD:20611 Variant of Guillain-Barré syndrome False False False -GARD:20612 Regional variant of Guillain-Barré syndrome False False False -GARD:20613 Functional variant of Guillain-Barré syndrome False False False -GARD:20614 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome False False False -GARD:20615 Paraparetic variant of Guillain-Barré syndrome False False False -GARD:20616 Acute pure sensory neuropathy False False False -GARD:20617 Acute pandysautonomia False False False -GARD:20618 Acute sensory ataxic neuropathy False False False -GARD:20619 Congenital erosive and vesicular dermatosis False False False -GARD:20620 Primary unilateral adrenal hyperplasia False False False -GARD:20621 Adrenocortical carcinoma with pure aldosterone hypersecretion False False False -GARD:20622 Ectopic aldosterone-producing tumor False False False -GARD:20623 Rare surgically correctable form of primary aldosteronism False False False -GARD:20624 Rare non surgically correctable form of primary aldosteronism False False False -GARD:20625 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome False False False -GARD:20626 Infectious embryofetopathy False False False -GARD:20627 Syndrome with alpha-thalassemia as a major feature False False False -GARD:20628 Rare genetic vascular disease False False False -GARD:20629 Congenital vascular bone syndrome False False False -GARD:20630 Familial hyperaldosteronism False False False -GARD:20631 AApoAII amyloidosis False False False -GARD:20632 Infundibulo-neurohypophysitis False False False -GARD:20633 Lymphoproliferative syndrome False False False -GARD:20634 Hypotonia-cystinuria type 1 syndrome False False False -GARD:20635 Congenital secondary polycythemia False False False -GARD:20636 Acquired secondary polycythemia False False False -GARD:20637 Ileal pouch anal anastomosis related faecal incontinence False False False -GARD:20638 Megacystis-megaureter syndrome False False False -GARD:20639 Primary megaureter, adult-onset form False False False -GARD:20640 Congenital primary megaureter, obstructed form False False False -GARD:20641 Congenital primary megaureter, refluxing form False False False -GARD:20642 Congenital primary megaureter, nonrefluxing and unobstructed form False False False -GARD:20643 Isolated congenital hypogonadotropic hypogonadism False False False -GARD:20644 Neonatal iodine exposure False False False -GARD:20645 Transient congenital hypothyroidism due to maternal factor False False False -GARD:20646 Transient congenital hypothyroidism due to neonatal factor False False False -GARD:20647 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome False False False -GARD:20648 Progressive supranuclear palsy-corticobasal syndrome False False False -GARD:20649 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome False False False -GARD:20650 Syndromic obesity False False False -GARD:20651 De novo thrombotic microangiopathy after kidney transplantation False False False -GARD:20652 Biliary atresia with splenic malformation syndrome False False False -GARD:20653 Infantile mercury poisoning False False False -GARD:20654 Sporadic adult-onset ataxia of unknown etiology False False False -GARD:20655 Non-hereditary degenerative ataxia False False False -GARD:20656 Acquired ataxia False False False -GARD:20657 Inhalational anthrax False False False -GARD:20658 Autosomal recessive secondary polycythemia not associated with VHL gene False False False -GARD:20659 Acute neonatal citrullinemia type I False False False -GARD:20660 Adult-onset citrullinemia type I False False False -GARD:20661 Citrin deficiency False False False -GARD:20662 Prenatal benign hypophosphatasia False False False -GARD:20663 Inflammatory myopathy with abundant macrophages False False False -GARD:20664 Idiopathic eosinophilic myositis False False False -GARD:20665 X-linked cerebellar ataxia False False False -GARD:20666 Autosomal recessive ataxia due to PEX10 deficiency False False False -GARD:20667 Primary hypertrophic osteoarthropathy False False False -GARD:20668 Rare deficiency anemia False False False -GARD:20669 Constitutional deficiency anemia False False False -GARD:20670 Rare acquired deficiency anemia False False False -GARD:20671 Rare hemorrhagic disorder False False False -GARD:20672 Rare hemorrhagic disorder due to a coagulation factors defect False False False -GARD:20673 Rare hemorrhagic disorder due to a platelet anomaly False False False -GARD:20674 Isolated delta-storage pool disease False False False -GARD:20675 Rare hemorrhagic disorder due to an acquired platelet anomaly False False False -GARD:20676 Rare thrombotic disorder due to a coagulation factors defect False False False -GARD:20677 Rare thrombotic disorder due to a constitutional coagulation factors defect False False False -GARD:20678 Rare thrombotic disorder due to an acquired coagulation factors defect False False False -GARD:20679 Rare thrombotic disorder due to a platelet anomaly False False False -GARD:2068 Ectrodactyly-polydactyly syndrome False False False -GARD:20680 Rare thrombotic disorder due to a constitutional platelet anomaly False False False -GARD:20681 Rare thrombotic disorder due to an acquired platelet anomaly False False False -GARD:20682 Genetic polycythemia False False False -GARD:20683 Serpinopathy False False False -GARD:20684 Serpinopathy with toxic serpin polymerization False False False -GARD:20685 Serpinopathy with loss of serpin function False False False -GARD:20686 Autosomal dominant optic atrophy and peripheral neuropathy False False False -GARD:20687 Polymicrogyria with optic nerve hypoplasia False False False -GARD:20688 Paternal uniparental disomy of chromosome 1 False False False -GARD:20689 Maternal uniparental disomy of chromosome 1 False False False -GARD:20690 2q31.1 microdeletion syndrome False False False -GARD:20691 6p22 microdeletion syndrome False False False -GARD:20692 7q31 microdeletion syndrome False False False -GARD:20693 8p11.2 deletion syndrome False False False -GARD:20694 Infantile onset panniculitis with uveitis and systemic granulomatosis False False False -GARD:20695 Idiopathic recurrent pericarditis False False False -GARD:20696 Overlapping connective tissue disease False False False -GARD:20697 Drug-induced vasculitis False False False -GARD:20698 Unclassified vasculitis False False False -GARD:20699 Unexplained long-lasting fever/inflammatory syndrome False False False -GARD:207 Alveolar echinococcosis False False False -GARD:20700 Sickle cell-hemoglobin E disease syndrome False False False -GARD:20701 Toxic or drug-related embryofetopathy False False False -GARD:20702 Maternal disease-related embryofetopathy False False False -GARD:20703 Rare tumor of neuroepithelial tissue False False False -GARD:20704 High-grade astrocytoma False False False -GARD:20705 Giant cell glioblastoma False False False -GARD:20706 Low-grade astrocytoma False False False -GARD:20707 Protoplasmic astrocytoma False False False -GARD:20708 Fibrillary astrocytoma False False False -GARD:20709 Gemistocytic astrocytoma False False False -GARD:2071 Blepharo-cheilo-odontic syndrome False False False -GARD:20710 Pilomyxoid astrocytoma False False False -GARD:20711 Pituicytoma False False False -GARD:20712 Oligoastrocytic tumor False False False -GARD:20713 Glial tumor of neuroepithelial tissue with unknown origin False False False -GARD:20714 Angiocentric glioma False False False -GARD:20715 Chordoid glioma False False False -GARD:20716 Embryonal tumor of neuroepithelial tissue False False False -GARD:20717 Anaplastic/large cell medulloblastoma False False False -GARD:20718 Central nervous system embryonal tumor False False False -GARD:20719 Ganglioneuroblastoma False False False -GARD:20720 Ependymoblastoma False False False -GARD:20721 Medulloepithelioma of the central nervous system False False False -GARD:20722 Choroid plexus tumor False False False -GARD:20723 Atypical papilloma of choroid plexus False False False -GARD:20724 Pineal tumor of neuroepithelial tissue False False False -GARD:20725 Papillary tumor of the pineal region False False False -GARD:20726 Neuronal tumor False False False -GARD:20727 Extraventricular neurocytoma False False False -GARD:20728 Mixed neuronal-glial tumor False False False -GARD:20729 Desmoplastic infantile astrocytoma/ganglioglioma False False False -GARD:20730 Papillary glioneuronal tumor False False False -GARD:20731 Ganglioneuroma False False False -GARD:20732 Primary germ cell tumor of central nervous system False False False -GARD:20733 Yolk sac tumor of central nervous system False False False -GARD:20734 Choriocarcinoma of the central nervous system False False False -GARD:20735 Teratoma of the central nervous system False False False -GARD:20736 Mixed germ cell tumor of central nervous system False False False -GARD:20737 Tumor of meninges False False False -GARD:20738 Primary melanocytic tumor of central nervous system False False False -GARD:20739 Diffuse leptomeningeal melanocytosis False False False -GARD:2074 Edinburgh malformation syndrome False False False -GARD:20740 Meningeal melanocytoma False False False -GARD:20741 Malignant peripheral nerve sheath tumor with perineurial differentiation False False False -GARD:20742 Inherited nervous system cancer-predisposing syndrome False False False -GARD:20743 Malignant triton tumor False False False -GARD:20744 Rare cutaneous lichen planus False False False -GARD:20745 Rare mucosal lichen planus False False False -GARD:20746 Inhalational botulism False False False -GARD:20747 Iatrogenic botulism False False False -GARD:20748 Gestational trophoblastic disease False False False -GARD:20749 Partial hydatidiform mole False False False -GARD:20750 Epithelioid trophoblastic tumor False False False -GARD:20751 Genetic hyperferritinemia without iron overload False False False -GARD:20752 Pyruvate metabolism disorder False False False -GARD:20753 Tricarboxylic acid cycle disorder False False False -GARD:20754 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies False False False -GARD:20755 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA False False False -GARD:20756 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA False False False -GARD:20757 Mitochondrial DNA-related mitochondrial myopathy False False False -GARD:20758 Multiple mitochondrial DNA deletion syndrome False False False -GARD:20759 Ataxia neuropathy spectrum False False False -GARD:2076 EEC syndrome False False False -GARD:20760 Mitochondrial oxidative phosphorylation disorder with no known mechanism False False False -GARD:20761 Mitochondrial membrane transport disorder False False False -GARD:20762 Mitochondrial substrate carrier disorder False False False -GARD:20763 Mitochondrial protein import disorder False False False -GARD:20764 Unspecified mitochondrial disorder False False False -GARD:20765 Exercise intolerance with lactic acidosis False False False -GARD:20766 Isolated oxidative phosphorylation complex disorder False False False -GARD:20767 Mitochondrial DNA-related dystonia False False False -GARD:20768 Pure mitochondrial myopathy False False False -GARD:20769 Mitochondrial DNA depletion syndrome, hepatocerebral form False False False -GARD:20770 Distal 7q11.23 microduplication syndrome False False False -GARD:20771 FOXG1 syndrome due to 14q12 microdeletion False False False -GARD:20772 16p11.2p12.2 microduplication syndrome False False False -GARD:20773 14q11.2 microduplication syndrome False False False -GARD:20774 16p13.11 microdeletion syndrome False False False -GARD:20775 16p13.11 microduplication syndrome False False False -GARD:20776 Distal 17p13.3 microdeletion syndrome False False False -GARD:20777 Paternal 20q13.2q13.3 microdeletion syndrome False False False -GARD:20778 20q13.33 microdeletion syndrome False False False -GARD:20779 21q22.11q22.12 microdeletion syndrome False False False -GARD:2078 EEM syndrome False False False -GARD:20780 Distal 22q11.2 microduplication syndrome False False False -GARD:20781 Trisomy 1q False False False -GARD:20782 Atypical Norrie disease due to Xp11.3 microdeletion False False False -GARD:20783 Maternal uniparental disomy of chromosome X False False False -GARD:20784 Paternal uniparental disomy of chromosome X False False False -GARD:20785 Ring chromosome Y syndrome False False False -GARD:20786 Familial adenomatous polyposis due to 5q22.2 microdeletion False False False -GARD:20787 Okihiro syndrome due to 20q13 microdeletion False False False -GARD:20788 Okihiro syndrome due to a point mutation False False False -GARD:20789 Partial deletion of chromosome 1 False False False -GARD:20790 Partial deletion of chromosome 2 False False False -GARD:20791 Partial deletion of chromosome 3 False False False -GARD:20792 Partial deletion of chromosome 4 False False False -GARD:20793 Partial deletion of chromosome 5 False False False -GARD:20794 Partial deletion of chromosome 6 False False False -GARD:20795 Partial deletion of chromosome 7 False False False -GARD:20796 Partial deletion of chromosome 8 False False False -GARD:20797 Partial deletion of chromosome 9 False False False -GARD:20798 Partial deletion of chromosome 10 False False False -GARD:20799 Partial deletion of chromosome 11 False False False -GARD:20800 Partial deletion of the long arm of chromosome 12 False False False -GARD:20801 Partial deletion of chromosome 16 False False False -GARD:20802 Partial deletion of chromosome 17 False False False -GARD:20803 Partial deletion of chromosome 18 False False False -GARD:20804 Partial deletion of chromosome 19 False False False -GARD:20805 Partial deletion of chromosome 20 False False False -GARD:20806 Partial deletion of the short arm of chromosome 1 False False False -GARD:20807 Partial deletion of the short arm of chromosome 2 False False False -GARD:20808 Partial deletion of the short arm of chromosome 4 False False False -GARD:20809 Partial deletion of the short arm of chromosome 5 False False False -GARD:2081 Hypermobile Ehlers-Danlos syndrome False False False -GARD:20810 Partial deletion of the short arm of chromosome 6 False False False -GARD:20811 Partial deletion of the short arm of chromosome 7 False False False -GARD:20812 Partial deletion of the short arm of chromosome 8 False False False -GARD:20813 Partial deletion of the short arm of chromosome 9 False False False -GARD:20814 Partial deletion of the short arm of chromosome 10 False False False -GARD:20815 Partial deletion of the short arm of chromosome 11 False False False -GARD:20816 Partial deletion of the short arm of chromosome 16 False False False -GARD:20817 Partial monosomy of the short arm of chromosome 17 False False False -GARD:20818 Partial deletion of the short arm of chromosome 18 False False False -GARD:20819 Partial deletion of the short arm of chromosome 19 False False False -GARD:2082 Vascular Ehlers-Danlos syndrome False False False -GARD:20820 Partial monosomy of the short arm of chromosome 20 False False False -GARD:20821 Partial deletion of the long arm of chromosome 1 False False False -GARD:20822 Partial deletion of the long arm of chromosome 2 False False False -GARD:20823 Partial deletion of the long arm of chromosome 3 False False False -GARD:20824 Partial deletion of the long arm of chromosome 4 False False False -GARD:20825 Partial deletion of the long arm of chromosome 5 False False False -GARD:20826 Partial deletion of the long arm of chromosome 6 False False False -GARD:20827 Partial deletion of the long arm of chromosome 7 False False False -GARD:20828 Partial deletion of the long arm of chromosome 8 False False False -GARD:20829 Partial monosomy of the long arm of chromosome 9 False False False -GARD:2083 Kyphoscoliotic Ehlers-Danlos syndrome False False False -GARD:20830 Partial monosomy of the long arm of chromosome 10 False False False -GARD:20831 Partial deletion of the long arm of chromosome 11 False False False -GARD:20832 Partial deletion of the long arm of chromosome 13 False False False -GARD:20833 Partial deletion of the long arm of chromosome 14 False False False -GARD:20834 Partial deletion of the long arm of chromosome 15 False False False -GARD:20835 Partial deletion of the long arm of chromosome 16 False False False -GARD:20836 Partial deletion of the long arm of chromosome 17 False False False -GARD:20837 Partial deletion of the long arm of chromosome 18 False False False -GARD:20838 Partial deletion of the long arm of chromosome 19 False False False -GARD:20839 Partial deletion of the long arm of chromosome 20 False False False -GARD:2084 Arthrochalasia Ehlers-Danlos syndrome False False False -GARD:20840 Partial deletion of the long arm of chromosome 21 False False False -GARD:20841 Partial deletion of the long arm of chromosome 22 False False False -GARD:20842 Partial duplication of chromosome 1 False False False -GARD:20843 Partial duplication of chromosome 2 False False False -GARD:20844 Partial duplication of chromosome 3 False False False -GARD:20845 Partial duplication of chromosome 4 False False False -GARD:20846 Partial trisomy/tetrasomy of chromosome 5 False False False -GARD:20847 Partial duplication of chromosome 6 False False False -GARD:20848 Partial duplication of chromosome 7 False False False -GARD:20849 Partial duplication of chromosome 8 False False False -GARD:20850 Partial trisomy/tetrasomy of chromosome 9 False False False -GARD:20851 Partial duplication of chromosome 10 False False False -GARD:20852 Partial duplication of chromosome 11 False False False -GARD:20853 Partial trisomy/tetrasomy of the short arm of chromosome 12 False False False -GARD:20854 Partial duplication of chromosome 16 False False False -GARD:20855 Partial duplication of chromosome 17 False False False -GARD:20856 Partial trisomy/tetrasomy of chromosome 18 False False False -GARD:20857 Partial duplication of chromosome 19 False False False -GARD:20858 Partial trisomy of chromosome 20 False False False -GARD:20859 Partial duplication of the short arm of chromosome 2 False False False -GARD:20860 Partial duplication of the short arm of chromosome 3 False False False -GARD:20861 Partial duplication of the short arm of chromosome 4 False False False -GARD:20862 Partial trisomy/tetrasomy of the short arm of chromosome 5 False False False -GARD:20863 Partial duplication of the short arm of chromosome 6 False False False -GARD:20864 Partial duplication of the short arm of chromosome 7 False False False -GARD:20865 Partial duplication of the short arm of chromosome 8 False False False -GARD:20866 Partial trisomy/tetrasomy of the short arm of chromosome 9 False False False -GARD:20867 Partial duplication of the short arm of chromosome 10 False False False -GARD:20868 Partial duplication of the short arm of chromosome 11 False False False -GARD:20869 Partial duplication of the short arm of chromosome 16 False False False -GARD:20870 Partial duplication of the short arm of chromosome 17 False False False -GARD:20871 Partial trisomy/tetrasomy of the short arm of chromosome 18 False False False -GARD:20872 Partial duplication of the long arm of chromosome 1 False False False -GARD:20873 Partial duplication of the long arm of chromosome 2 False False False -GARD:20874 Partial duplication of the long arm of chromosome 3 False False False -GARD:20875 Partial duplication of the long arm of chromosome 4 False False False -GARD:20876 Partial trisomy of the long arm of chromosome 5 False False False -GARD:20877 Partial duplication of the long arm of chromosome 6 False False False -GARD:20878 Partial duplication of the long arm of chromosome 7 False False False -GARD:20879 Partial duplication of the long arm of chromosome 8 False False False -GARD:2088 Classical Ehlers-Danlos syndrome False False False -GARD:20880 Partial trisomy of the long arm of chromosome 9 False False False -GARD:20881 Partial duplication of the long arm of chromosome 10 False False False -GARD:20882 Partial duplication of the long arm of chromosome 11 False False False -GARD:20883 Partial duplication of the long arm of chromosome 13 False False False -GARD:20884 Partial duplication of the long arm of chromosome 14 False False False -GARD:20885 Partial duplication of the long arm of chromosome 15 False False False -GARD:20886 Partial trisomy of the long arm of chromosome 16 False False False -GARD:20887 Partial duplication of the long arm of chromosome 17 False False False -GARD:20888 Partial trisomy of the long arm of chromosome 18 False False False -GARD:20889 Partial duplication of the long arm of chromosome 19 False False False -GARD:2089 Dermatosparaxis Ehlers-Danlos syndrome False False False -GARD:20890 Partial trisomy of the long arm of chromosome 20 False False False -GARD:20891 Partial duplication of the long arm of chromosome 22 False False False -GARD:20892 Thymoma type A False False False -GARD:20893 Thymoma type B False False False -GARD:20894 Thymoma type AB False False False -GARD:20895 Well-differentiated thymic neuroendocrine carcinoma False False False -GARD:20896 Moderately-differentiated thymic neuroendocrine carcinoma False False False -GARD:20897 Poorly differentiated thymic neuroendocrine carcinoma False False False -GARD:20898 Postcardiotomy right ventricular failure False False False -GARD:20899 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome False False False -GARD:20900 Angiosarcoma False False False -GARD:20901 Nevus of Ota False False False -GARD:20902 Congenital smooth muscle hamartoma False False False -GARD:20903 Hyperinsulinism due to HNF4A deficiency False False False -GARD:20904 Peeling skin syndrome type C False False False -GARD:20905 NK-cell enteropathy False False False -GARD:20906 Complex chromosomal rearrangement False False False -GARD:20907 X chromosome number anomaly False False False -GARD:20908 X chromosome number anomaly with female phenotype False False False -GARD:20909 X chromosome number anomaly with male phenotype False False False -GARD:20910 Polysomy of X chromosome False False False -GARD:20911 Partial deletion of chromosome X False False False -GARD:20912 Partial monosomy of the short arm of chromosome X False False False -GARD:20913 Y chromosome number anomaly False False False -GARD:20914 X and Y chromosomal anomaly False False False -GARD:20915 Partial deletion of the long arm of chromosome X False False False -GARD:20916 Partial duplication of chromosome X False False False -GARD:20917 Partial duplication of the long arm of chromosome X False False False -GARD:20918 Uniparental disomy of chromosome X False False False -GARD:20919 Partial duplication of the short arm of chromosome 1 False False False -GARD:2092 Ehrlichiosis False False False -GARD:20920 Trisomy 8p False False False -GARD:20921 Interstitial lung disease specific to childhood False False False -GARD:20922 Primary interstitial lung disease specific to childhood due to alveolar structure disorder False False False -GARD:20923 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder False False False -GARD:20924 Isolated pulmonary capillaritis False False False -GARD:20925 Interstitial lung disease specific to infancy False False False -GARD:20926 Secondary interstitial lung disease specific to childhood associated with a systemic disease False False False -GARD:20927 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease False False False -GARD:20928 Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis False False False -GARD:20929 Secondary interstitial lung disease specific to childhood associated with a granulomatous disease False False False -GARD:20930 Secondary interstitial lung disease specific to childhood associated with a metabolic disease False False False -GARD:20931 Interstitial lung disease specific to adulthood False False False -GARD:20932 Primary interstitial lung disease specific to adulthood False False False -GARD:20933 Secondary interstitial lung disease specific to adulthood associated with a systemic disease False False False -GARD:20934 Interstitial lung disease in childhood and adulthood False False False -GARD:20935 Primary interstitial lung disease in childhood and adulthood False False False -GARD:20936 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder False False False -GARD:20937 Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder False False False -GARD:20938 Secondary interstitial lung disease in childhood and adulthood False False False -GARD:20939 Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease False False False -GARD:20940 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease False False False -GARD:20941 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis False False False -GARD:20942 Drug or radiation exposure-related interstitial lung disease False False False -GARD:20943 Exposure-related interstitial lung disease False False False -GARD:20944 Genetic interstitial lung disease False False False -GARD:20945 Intraocular medulloepithelioma False False False -GARD:20946 Mycophenolate mofetil embryopathy False False False -GARD:20947 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion False False False -GARD:20948 Complication in hemodialysis False False False -GARD:20949 Open iniencephaly False False False -GARD:20950 Closed iniencephaly False False False -GARD:20951 Spina bifida aperta False False False -GARD:20952 Total spina bifida aperta False False False -GARD:20953 Thoracolumbosacral spina bifida aperta False False False -GARD:20954 Lumbosacral spina bifida aperta False False False -GARD:20955 Cervical spina bifida aperta False False False -GARD:20956 Cervicothoracic spina bifida aperta False False False -GARD:20957 Upper thoracic spina bifida aperta False False False -GARD:20958 Spina bifida cystica False False False -GARD:20959 Total spina bifida cystica False False False -GARD:2096 Acrocephalopolydactyly False False False -GARD:20960 Thoracolumbosacral spina bifida cystica False False False -GARD:20961 Lumbosacral spina bifida cystica False False False -GARD:20962 Cervical spina bifida cystica False False False -GARD:20963 Cervicothoracic spina bifida cystica False False False -GARD:20964 Upper thoracic spina bifida cystica False False False -GARD:20965 Posterior meningocele False False False -GARD:20966 Myelocystocele False False False -GARD:20967 Cephalocele False False False -GARD:20968 Cranial meningocele False False False -GARD:20969 Occipital encephalocele False False False -GARD:20970 Parietal encephalocele False False False -GARD:20971 Basal encephalocele False False False -GARD:20972 Lipoma associated with neurospinal dysraphism False False False -GARD:20973 Leptomyelolipoma False False False -GARD:20974 Malformation of the neurenteric canal, spinal cord and column False False False -GARD:20975 Neurenteric cyst False False False -GARD:20976 Isolated amyelia False False False -GARD:20977 Isolated megalencephaly False False False -GARD:20978 Midline cerebral malformation False False False -GARD:20979 Isolated arhinencephaly False False False -GARD:2098 Microcephaly-cardiac defect-lung malsegmentation syndrome False False False -GARD:20980 Unilateral polymicrogyria False False False -GARD:20981 Unilateral focal polymicrogyria False False False -GARD:20982 Cerebral cortical dysplasia False False False -GARD:20983 Isolated focal cortical dysplasia type I False False False -GARD:20984 Isolated focal cortical dysplasia type Ia False False False -GARD:20985 Isolated focal cortical dysplasia type Ib False False False -GARD:20986 Isolated focal cortical dysplasia type Ic False False False -GARD:20987 Encephaloclastic disorder False False False -GARD:20988 Central nervous system cystic malformation False False False -GARD:20989 Glioependymal/ependymal cyst False False False -GARD:20990 Isolated cerebellar vermis agenesis False False False -GARD:20991 Isolated total cerebellar vermis agenesis False False False -GARD:20992 Isolated partial cerebellar vermis agenesis False False False -GARD:20993 Isolated Dandy-Walker malformation with hydrocephalus False False False -GARD:20994 Isolated Dandy-Walker malformation without hydrocephalus False False False -GARD:20995 Isolated unilateral hemispheric cerebellar hypoplasia False False False -GARD:20996 Isolated bilateral hemispheric cerebellar hypoplasia False False False -GARD:20997 Global cerebellar malformation False False False -GARD:20998 Congenital communicating hydrocephalus False False False -GARD:20999 Syndrome with a cerebellar malformation as a major feature False False False -GARD:21000 Syndrome with microcephaly as a major feature False False False -GARD:21001 Other syndrome with a central nervous system malformation as a major feature False False False -GARD:21002 Syndrome with a Dandy-Walker malformation as a major feature False False False -GARD:21003 Genetic non-syndromic central nervous system malformation False False False -GARD:21004 Genetic cerebral malformation False False False -GARD:21005 Genetic posterior fossa malformation False False False -GARD:21006 Genetic cerebellar malformation False False False -GARD:21007 Genetic syndrome with a central nervous system malformation as a major feature False False False -GARD:21008 Genetic syndrome with a cerebellar malformation as a major feature False False False -GARD:21009 Genetic syndrome with a Dandy-Walker malformation as a major feature False False False -GARD:21010 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature False False False -GARD:21011 Genetic soft tissue tumor False False False -GARD:21012 Genetic digestive tract tumor False False False -GARD:21013 Genetic cardiac tumor False False False -GARD:21014 Genetic urogenital tumor False False False -GARD:21015 Genetic neuroendocrine tumor False False False -GARD:21016 Genetic cardiac anomaly False False False -GARD:21017 Hereditary ATTR amyloidosis False False False -GARD:21018 Rare genetic systemic or rheumatologic disease False False False -GARD:21019 Rare hemorrhagic disorder due to a constitutional thrombocytopenia False False False -GARD:2102 X-linked Emery-Dreifuss muscular dystrophy False False False -GARD:21020 Rare hemorrhagic disorder due to a qualitative platelet defect False False False -GARD:21021 Genetic infertility False False False -GARD:21022 Alpha-thalassemia and related disorders False False False -GARD:21023 Beta-thalassemia and related diseases False False False -GARD:21024 Sickle cell disease and related diseases False False False -GARD:21025 Idiopathic pulmonary arterial hypertension False False False -GARD:21026 Drug- or toxin-induced pulmonary arterial hypertension False False False -GARD:21027 Pulmonary arterial hypertension associated with another disease False False False -GARD:21028 Pulmonary arterial hypertension associated with connective tissue disease False False False -GARD:21029 Pulmonary arterial hypertension associated with congenital heart disease False False False -GARD:21030 Pulmonary arterial hypertension associated with HIV infection False False False -GARD:21031 Pulmonary arterial hypertension associated with portal hypertension False False False -GARD:21032 Pulmonary arterial hypertension associated with schistosomiasis False False False -GARD:21033 Pulmonary arterial hypertension associated with chronic hemolytic anemia False False False -GARD:21034 Pulmonary hypertension owing to lung disease and/or hypoxia False False False -GARD:21035 Pulmonary hypertension with unclear multifactorial mechanism False False False -GARD:21036 Syndrome with pulmonary hypertension as a major feature False False False -GARD:21037 Hemolytic disease due to fetomaternal alloimmunization False False False -GARD:21038 Hemolytic disease of the newborn with Kell alloimmunization False False False -GARD:21039 Genetic neurodegenerative disease with dementia False False False -GARD:2104 Congenital lobar emphysema False False False -GARD:21040 Genetic frontotemporal degeneration with dementia False False False -GARD:21041 Bile acid CoA ligase deficiency and defective amidation False False False -GARD:21042 Rare tumor of salivary glands False False False -GARD:21043 Malignant epithelial tumor of salivary glands False False False -GARD:21044 Multiple endocrine neoplasia False False False -GARD:21045 Idiopathic recurrent stupor False False False -GARD:21046 Mucopolysaccharidosis type 6, rapidly progressing False False False -GARD:21047 Mucopolysaccharidosis type 6, slowly progressing False False False -GARD:21048 Machado-Joseph disease type 1 False False False -GARD:21049 Machado-Joseph disease type 2 False False False -GARD:21050 Machado-Joseph disease type 3 False False False -GARD:21051 Hemihyperplasia-multiple lipomatosis syndrome False False False -GARD:21052 10q22.3q23.3 microduplication syndrome False False False -GARD:21053 Familial hyperinsulinism False False False -GARD:21054 Hyperinsulinism due to UCP2 deficiency False False False -GARD:21055 Diazoxide-resistant hyperinsulinism False False False -GARD:21056 Non-insulinoma pancreatogenous hypoglycemia syndrome False False False -GARD:21057 Symptomatic form of Coffin-Lowry syndrome in female carriers False False False -GARD:21058 Spasmus nutans False False False -GARD:21059 Acute endophthalmitis False False False -GARD:21060 Chronic endophthalmitis False False False -GARD:21061 Toxic maculopathy due to antimalarial drugs False False False -GARD:21062 Primary oculocerebral lymphoma False False False -GARD:21063 Primary intraocular lymphoma False False False -GARD:21064 Primary organ-specific lymphoma False False False -GARD:21065 Intermediate uveitis False False False -GARD:21066 Infectious posterior uveitis False False False -GARD:21067 Infectious anterior uveitis False False False -GARD:21068 Infectious panuveitis False False False -GARD:21069 Paraneoplastic uveitis False False False -GARD:21070 Calciphylaxis cutis False False False -GARD:21071 Visceral calciphylaxis False False False -GARD:21072 Laryngotracheoesophageal cleft type 0 False False False -GARD:21073 Pelizaeus-Merzbacher disease, classic form False False False -GARD:21074 Pelizaeus-Merzbacher disease, transitional form False False False -GARD:21075 Pelizaeus-Merzbacher disease in female carriers False False False -GARD:21076 Autoimmune pancreatitis type 1 False False False -GARD:21077 Autoimmune pancreatitis type 2 False False False -GARD:21078 Distal monosomy 12p False False False -GARD:21079 Rare systemic or rheumatological disease of childhood False False False -GARD:2108 Encephalocraniocutaneous lipomatosis False False False -GARD:21080 Autosomal semi-dominant severe lipodystrophic laminopathy False False False -GARD:21081 Rare pediatric vasculitis False False False -GARD:21082 Rare pediatric systemic disease False False False -GARD:21083 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome False False False -GARD:21084 Familial Alzheimer-like prion disease False False False -GARD:21085 Inherited human prion disease False False False -GARD:21086 Familial omphalocele syndrome with facial dysmorphism False False False -GARD:21087 Generalized essential telangiectasia False False False -GARD:21088 Bullous diffuse cutaneous mastocytosis False False False -GARD:21089 Pseudoxanthomatous diffuse cutaneous mastocytosis False False False -GARD:21090 Intralobar congenital pulmonary sequestration False False False -GARD:21091 Extralobar congenital pulmonary sequestration False False False -GARD:21092 Communicating congenital bronchopulmonary-foregut malformation False False False -GARD:21093 Congenital pulmonary airway malformation type 0 False False False -GARD:21094 Congenital pulmonary airway malformation type 1 False False False -GARD:21095 Congenital pulmonary airway malformation type 2 False False False -GARD:21096 Congenital pulmonary airway malformation type 3 False False False -GARD:21097 Congenital pulmonary airway malformation type 4 False False False -GARD:21098 Idiopathic anterior uveitis False False False -GARD:21099 Idiopathic posterior uveitis False False False -GARD:21100 Idiopathic panuveitis False False False -GARD:21101 Systemic diseases with anterior uveitis False False False -GARD:21102 Systemic diseases with posterior uveitis False False False -GARD:21103 Systemic diseases with panuveitis False False False -GARD:21104 Inherited non-syndromic ichthyosis False False False -GARD:21105 Inherited ichthyosis syndromic form False False False -GARD:21106 Autosomal recessive congenital ichthyosis False False False -GARD:21107 Keratinopathic ichthyosis False False False -GARD:21108 Acral self-healing collodion baby False False False -GARD:21109 X-linked ichthyosis syndrome False False False -GARD:21110 Autosomal ichthyosis syndrome False False False -GARD:21111 Autosomal ichthyosis syndrome with prominent hair abnormalities False False False -GARD:21112 Autosomal ichthyosis syndrome with prominent neurologic signs False False False -GARD:21113 Autosomal ichthyosis syndrome with fatal disease course False False False -GARD:21114 Autosomal ichthyosis syndrome with other associated signs False False False -GARD:21115 Partial deletion of chromosome 12 False False False -GARD:21116 Autoimmune polyendocrinopathy False False False -GARD:21117 Xp22.13p22.2 duplication syndrome False False False -GARD:21118 Fetal lung interstitial tumor False False False -GARD:21119 Familial intrahepatic cholestasis False False False -GARD:21120 Well-differentiated fetal adenocarcinoma of the lung False False False -GARD:21121 Acute annular outer retinopathy False False False -GARD:21122 Qualitative or quantitative defects of troponin False False False -GARD:21123 Qualitative or quantitative defects of tropomyosin False False False -GARD:21124 Ocular albinism False False False -GARD:21125 Syndromic oculocutaneous albinism False False False -GARD:21126 Disorder of phenylalanine metabolism False False False -GARD:21127 Disorder of tyrosine metabolism False False False -GARD:21128 Neonatal Marfan syndrome False False False -GARD:21129 Marfan syndrome and Marfan-related disorders False False False -GARD:2113 Bonnemann-Meinecke-Reich syndrome False False False -GARD:21130 Rare disease with thoracic aortic aneurysm and aortic dissection False False False -GARD:21131 Disorder of folate metabolism and transport False False False -GARD:21132 Disorders of vitamin D metabolism False False False -GARD:21133 Hypocalcemic rickets False False False -GARD:21134 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation False False False -GARD:21135 Infective dermatitis associated with HTLV-1 False False False -GARD:21136 Primary non-gestational choriocarcinoma of ovary False False False -GARD:21137 Non-central nervous system-localized embryonal carcinoma False False False -GARD:21138 Malignancy diagnosed during pregnancy False False False -GARD:21139 Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome False False False -GARD:21140 4H leukodystrophy False False False -GARD:21141 12q15q21.1 microdeletion syndrome False False False -GARD:21142 Microtriplication 11q24.1 False False False -GARD:21143 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency False False False -GARD:21144 Juvenile nasopharyngeal angiofibroma False False False -GARD:21145 Rare virus associated tumor False False False -GARD:21146 Epstein-Barr Virus-related tumor False False False -GARD:21147 Epstein-Barr virus-associated malignant lymphoproliferative disorder False False False -GARD:21148 Epstein-Barr Virus-associated carcinoma False False False -GARD:21149 Epstein-Barr Virus-associated mesenchymal tumor False False False -GARD:21150 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly False False False -GARD:21151 Lymphoepithelial-like carcinoma False False False -GARD:21152 Myopericytoma False False False -GARD:21153 Late-onset primary lymphedema without systemic or visceral involvement False False False -GARD:21154 Disorder of tryptophan metabolism False False False -GARD:21155 Disorder of lysine and hydroxylysine metabolism False False False -GARD:21156 Disorder of glutamine metabolism False False False -GARD:21157 Disorder of proline metabolism False False False -GARD:21158 Disorder of ornithine metabolism False False False -GARD:21159 Transient hyperammonemia of the newborn False False False -GARD:21160 Systemic disease with skin involvement False False False -GARD:21161 Autoinflammatory syndrome with immune deficiency False False False -GARD:21162 Autoinflammatory syndrome with skin involvement False False False -GARD:21163 Rare head and neck tumor False False False -GARD:21164 Acute generalized exanthematous pustulosis False False False -GARD:21165 Pleomorphic rhabdomyosarcoma False False False -GARD:21166 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria False False False -GARD:21167 Grayson-Wilbrandt corneal dystrophy False False False -GARD:21168 Pre-Descemet corneal dystrophy False False False -GARD:21169 Ketamine-induced biliary dilatation False False False -GARD:21170 Fixed drug eruption False False False -GARD:21171 Toxic dermatosis False False False -GARD:21172 Constitutional dyserythropoietic anemia False False False -GARD:21173 1p21.3 microdeletion syndrome False False False -GARD:21174 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome False False False -GARD:21175 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication False False False -GARD:21176 Rare nevus False False False -GARD:21177 Multiple pterygium syndrome False False False -GARD:21178 Chronic intestinal failure False False False -GARD:21179 Amelia False False False -GARD:21180 Intercalary limb defects False False False -GARD:21181 Congenital deformities of limbs False False False -GARD:21182 Congenital deformities of fingers False False False -GARD:21183 Joint formation defects False False False -GARD:21184 Congenital joint dislocations False False False -GARD:21185 Non syndromic limb overgrowth False False False -GARD:21186 Syndrome with limb reduction defects False False False -GARD:21187 Dysostosis with combined reduction defects of upper and lower limbs False False False -GARD:21188 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy False False False -GARD:21189 Popliteal pterygium syndrome False False False -GARD:21190 Amelia of upper limb False False False -GARD:21191 Amelia of lower limb False False False -GARD:21192 Humeral agenesis/hypoplasia False False False -GARD:21193 Congenital absence of thigh and lower leg with foot present False False False -GARD:21194 Congenital absence of both forearm and hand False False False -GARD:21195 Congenital absence of both lower leg and foot False False False -GARD:21196 Acheiria False False False -GARD:21197 Apodia False False False -GARD:21198 Congenital hypoplasia of thumb False False False -GARD:21199 Hyperphalangy False False False -GARD:212 Oculodental syndrome, Rutherfurd type False False False -GARD:21200 Central polydactyly False False False -GARD:21201 Syndactyly type 6 False False False -GARD:21202 Familial isolated clinodactyly of fingers False False False -GARD:21203 Congenital pseudoarthrosis of the tibia False False False -GARD:21204 Congenital pseudoarthrosis of the femur False False False -GARD:21205 Congenital pseudoarthrosis of the fibula False False False -GARD:21206 Congenital pseudoarthrosis of the radius False False False -GARD:21207 Congenital pseudoarthrosis of the ulna False False False -GARD:21208 Tibio-fibular synostosis False False False -GARD:21209 True congenital shoulder dislocation False False False -GARD:21210 Isolated congenital radial head dislocation False False False -GARD:21211 Congenital knee dislocation False False False -GARD:21212 Upper limb hypertrophy False False False -GARD:21213 Lower limb hypertrophy False False False -GARD:21214 Zygodactyly type 2 False False False -GARD:21215 Zygodactyly type 3 False False False -GARD:21216 Zygodactyly type 4 False False False -GARD:21217 Congenital vertical talus, unilateral False False False -GARD:21218 Congenital vertical talus, bilateral False False False -GARD:21219 Humero-ulnar synostosis, unilateral False False False -GARD:21220 Humero-ulnar synostosis, bilateral False False False -GARD:21221 Radio-ulnar synostosis, unilateral False False False -GARD:21222 Radio-ulnar synostosis, bilateral False False False -GARD:21223 Congenital elbow dislocation, unilateral False False False -GARD:21224 Congenital elbow dislocation, bilateral False False False -GARD:21225 Congenital genu recurvatum False False False -GARD:21226 Congenital genu flexum False False False -GARD:21227 Macrodactyly of fingers, unilateral False False False -GARD:21228 Macrodactyly of fingers, bilateral False False False -GARD:21229 Macrodactyly of toes, unilateral False False False -GARD:2123 Eng-Strom syndrome False False False -GARD:21230 Macrodactyly of toes, bilateral False False False -GARD:21231 Disorder of thiamine metabolism and transport False False False -GARD:21232 11p15.4 microduplication syndrome False False False -GARD:21233 Sagliker syndrome False False False -GARD:21234 Onychomatricoma False False False -GARD:21235 Rare nail tumor False False False -GARD:21236 Follicular cholangitis and pancreatitis False False False -GARD:21237 Carcinoma of the ampulla of Vater False False False -GARD:21238 Combined pulmonary fibrosis-emphysema syndrome False False False -GARD:21239 Staphylococcal toxemia False False False -GARD:21240 Laminopathy with striated muscle involvement False False False -GARD:21241 Laminopathy with peripheral neuropathy False False False -GARD:21242 Laminopathy with lipodystrophy False False False -GARD:21243 Laminopathy with premature aging False False False -GARD:21244 Indolent B-cell non-Hodgkin lymphoma False False False -GARD:21245 Aggressive B-cell non-Hodgkin lymphoma False False False -GARD:21246 Diffuse large B-cell lymphoma of the central nervous system False False False -GARD:21247 Primary cutaneous anaplastic large cell lymphoma False False False -GARD:21248 Splenic diffuse red pulp small B-cell lymphoma False False False -GARD:21249 Hairy cell leukemia variant False False False -GARD:2125 Glycogen storage disease due to muscle beta-enolase deficiency False False False -GARD:21250 Diffuse large B-cell lymphoma with chronic inflammation False False False -GARD:21251 ALK-positive anaplastic large cell lymphoma False False False -GARD:21252 ALK-negative anaplastic large cell lymphoma False False False -GARD:21253 Pituitary tumor False False False -GARD:21254 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis False False False -GARD:21255 Myospherulosis False False False -GARD:21256 Rare tumor of gallbladder and extrahepatic biliary tract False False False -GARD:21257 Rare tumor of liver and intrahepatic biliary tract False False False -GARD:21258 Rare intoxication due to medical products False False False -GARD:21259 Complication after organ transplantation False False False -GARD:21260 Non-infectious anterior uveitis False False False -GARD:21261 Rare parkinsonian syndrome due to neurodegenerative disease False False False -GARD:21262 Hemiparkinsonism-hemiatrophy syndrome False False False -GARD:21263 Rare parkinsonian syndrome due to intoxication False False False -GARD:21264 Manganese poisoning False False False -GARD:21265 Delayed encephalopathy due to carbon monoxide poisoning False False False -GARD:21266 Cyanide-induced parkinsonism-dystonia False False False -GARD:21267 Miscellaneous movement disorder due to neurodegenerative disease False False False -GARD:21268 Frontotemporal neurodegeneration with movement disorder False False False -GARD:21269 Rare tremor disorder False False False -GARD:21270 Rare choreic movement disorder False False False -GARD:21271 Neurodegenerative disease with chorea False False False -GARD:21272 Postinfectious autoimmune disease with chorea False False False -GARD:21273 Hemidystonia-hemiatrophy syndrome False False False -GARD:21274 Rare myoclonus False False False -GARD:21275 Primary myoclonus False False False -GARD:21276 Rare disease with myoclonus as a major feature False False False -GARD:21277 Epilepsy and/or ataxia with myoclonus as a major feature False False False -GARD:21278 Non progressive epilepsy and/or ataxia with myoclonus as a major feature False False False -GARD:21279 Motor stereotypies False False False -GARD:21280 Rare paroxysmal movement disorder False False False -GARD:21281 Hyperekplexia False False False -GARD:21282 Sporadic hyperekplexia False False False -GARD:21283 Rare genetic parkinsonian disorder False False False -GARD:21284 Rare parkinsonian syndrome due to genetic neurodegenerative disease False False False -GARD:21285 Miscellaneous movement disorder due to genetic neurodegenerative disease False False False -GARD:21286 Rare genetic tremor disorder False False False -GARD:21287 Rare genetic myoclonus False False False -GARD:21288 Rare genetic disease with myoclonus as a major feature False False False -GARD:21289 Diffuse palmoplantar keratoderma False False False -GARD:21290 Isolated diffuse palmoplantar keratoderma False False False -GARD:21291 Disease with diffuse palmoplantar keratoderma as a major feature False False False -GARD:21292 Autosomal dominant diffuse mutilating palmoplantar keratoderma False False False -GARD:21293 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature False False False -GARD:21294 Focal palmoplantar keratoderma False False False -GARD:21295 Isolated focal palmoplantar keratoderma False False False -GARD:21296 Disease with focal palmoplantar keratoderma as a major feature False False False -GARD:21297 Punctate palmoplantar keratoderma False False False -GARD:21298 Marginal papular palmoplantar keratoderma False False False -GARD:21299 Focal acral hyperkeratosis False False False -GARD:213 Axial mesodermal dysplasia spectrum False False False -GARD:2130 Congenital enterovirus infection False False False -GARD:21300 Disease with punctate palmoplantar keratoderma as a major feature False False False -GARD:21301 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature False False False -GARD:21302 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature False False False -GARD:21303 Disorder of beta and omega amino acid metabolism False False False -GARD:21304 Aminoacylase deficiency False False False -GARD:21305 Disorder of neutral amino acid transport False False False -GARD:21306 Disorder of glycolysis False False False -GARD:21307 Disorder of fructose metabolism False False False -GARD:21308 Disorder of galactose metabolism False False False -GARD:21309 Glycogen storage disease due to glycogen synthase deficiency False False False -GARD:21310 Glycogen storage disease due to acid maltase deficiency, infantile onset False False False -GARD:21311 Glycerol kinase deficiency False False False -GARD:21312 Disorder of glyoxylate metabolism False False False -GARD:21313 Disorder of carbohydrate absorption and transport False False False -GARD:21314 Disorder of lipid metabolism False False False -GARD:21315 Mevalonate kinase deficiency False False False -GARD:21316 Disorder of lipid absorption and transport False False False -GARD:21317 Disorder of fatty acid oxidation and ketogenesis False False False -GARD:21318 Acyl-CoA dehydrogenase deficiency False False False -GARD:21319 3-hydroxyacyl-CoA dehydrogenase deficiency False False False -GARD:21320 Disorder of carnitine cycle and carnitine transport False False False -GARD:21321 Metabolic disease due to other fatty acid oxidation disorder False False False -GARD:21322 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes False False False -GARD:21323 GM2 gangliosidosis False False False -GARD:21324 Tay-Sachs disease, B variant, infantile form False False False -GARD:21325 Tay-Sachs disease, B variant, juvenile form False False False -GARD:21326 Tay-Sachs disease, B variant, adult form False False False -GARD:21327 Tay-Sachs disease, B1 variant False False False -GARD:21328 Metachromatic leukodystrophy, late infantile form False False False -GARD:21329 Metachromatic leukodystrophy, juvenile form False False False -GARD:21330 Metachromatic leukodystrophy, adult form False False False -GARD:21331 Sialidosis False False False -GARD:21332 Disorder of sialic acid metabolism False False False -GARD:21333 Lysosomal glycogen storage disease False False False -GARD:21334 Disorder of lysosomal-related organelles False False False -GARD:21335 Disorder of protein N-glycosylation False False False -GARD:21336 Disorder of protein O-glycosylation False False False -GARD:21337 Disorder of O-xylosylglycan synthesis False False False -GARD:21338 Disorder of O-N-acetylgalactosaminylglycan synthesis False False False -GARD:21339 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis False False False -GARD:21340 Disorder of O-mannosylglycan synthesis False False False -GARD:21341 Disorder of fucoglycosan synthesis False False False -GARD:21342 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation False False False -GARD:21343 Disorder of multiple glycosylation False False False -GARD:21344 Defect in conserved oligomeric Golgi complex False False False -GARD:21345 Defect in V-ATPase False False False -GARD:21346 Disorder of porphyrin and heme metabolism False False False -GARD:21347 Disorder of bilirubin metabolism and excretion False False False -GARD:21348 Disorder of pterin metabolism False False False -GARD:21349 Disorder of metabolite absorption and transport False False False -GARD:21350 Disorder of vitamin and non-protein cofactor absorption and transport False False False -GARD:21351 Disorder of catecholamine synthesis False False False -GARD:21352 Disorder of other vitamins and cofactors metabolism and transport False False False -GARD:21353 Disorder of mineral absorption and transport False False False -GARD:21354 Disorder of copper metabolism False False False -GARD:21355 Disorder of iron metabolism and transport False False False -GARD:21356 Disorder of zinc metabolism and transport False False False -GARD:21357 Disorder of magnesium transport False False False -GARD:21358 Disorder of manganese transport False False False -GARD:21359 Acquired immunodeficiency False False False -GARD:21360 20p13 microdeletion syndrome False False False -GARD:21361 Congenital pancreatic cyst False False False -GARD:21362 Epstein-Barr virus-associated gastric carcinoma False False False -GARD:21363 2q23.1 microduplication syndrome False False False -GARD:21364 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome False False False -GARD:21365 Idiopathic linear interstitial keratitis False False False -GARD:21366 High bone mass osteogenesis imperfecta False False False -GARD:21367 7p22.1 microduplication syndrome False False False -GARD:21368 Marfanoid habitus-inguinal hernia-advanced bone age syndrome False False False -GARD:21369 Xq12-q13.3 duplication syndrome False False False -GARD:2137 Epidermolysis bullosa simplex with muscular dystrophy False False False -GARD:21370 Rare odontogenic tumor False False False -GARD:21371 Spigelian hernia-cryptorchidism syndrome False False False -GARD:21372 Meigs syndrome False False False -GARD:21373 Pseudo-Meigs syndrome False False False -GARD:21374 Atypical Meigs syndrome False False False -GARD:21375 Ovarian fibroma False False False -GARD:21376 Ovarian fibrothecoma False False False -GARD:21377 Primary progressive apraxia of speech False False False -GARD:21378 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome False False False -GARD:21379 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome False False False -GARD:21380 Growing teratoma syndrome False False False -GARD:21381 Duplication of the pituitary gland False False False -GARD:21382 Variant ABeta2M amyloidosis False False False -GARD:21383 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion False False False -GARD:21384 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia False False False -GARD:21385 Primary bone lymphoma False False False -GARD:21386 Acquired porencephaly False False False -GARD:21387 Primary localized amyloidosis False False False -GARD:21388 Rare disease with Cushing syndrome as a major feature False False False -GARD:21389 Functioning pituitary adenoma False False False -GARD:2139 Autosomal dominant generalized dystrophic epidermolysis bullosa False False False -GARD:21390 Mixed functioning pituitary adenoma False False False -GARD:21391 Somatomammotropinoma False False False -GARD:21392 Silent pituitary adenoma False False False -GARD:21393 Null pituitary adenoma False False False -GARD:21394 Autosomal dominant proximal renal tubular acidosis False False False -GARD:21395 Primary hypereosinophilic syndrome False False False -GARD:21396 Secondary hypereosinophilic syndrome False False False -GARD:21397 Lymphocytic hypereosinophilic syndrome False False False -GARD:21398 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form False False False -GARD:21399 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form False False False -GARD:21400 Autoimmune disease with skin involvement False False False -GARD:21401 Spastic ataxia False False False -GARD:21402 Autosomal dominant spastic ataxia False False False -GARD:21403 Autosomal recessive spastic ataxia False False False -GARD:21404 Partial deletion of the short arm of chromosome 12 False False False -GARD:21405 T-B+ severe combined immunodeficiency False False False -GARD:21406 T-B- severe combined immunodeficiency False False False -GARD:21407 Diencephalic-mesencephalic junction dysplasia False False False -GARD:21408 Chondroectodermal dysplasia with night blindness False False False -GARD:21409 Bilateral massive adrenal hemorrhage False False False -GARD:2141 Autosomal dominant generalized epidermolysis bullosa simplex, severe form False False False -GARD:21410 Lujo hemorrhagic fever False False False -GARD:21411 Argentine hemorrhagic fever False False False -GARD:21412 Bolivian hemorrhagic fever False False False -GARD:21413 Venezuelan hemorrhagic fever False False False -GARD:21414 Brazilian hemorrhagic fever False False False -GARD:21415 Chapare hemorrhagic fever False False False -GARD:21416 Rift valley fever False False False -GARD:21417 Multilocular cystic renal neoplasm of low malignant potential False False False -GARD:21418 Mucinous tubular and spindle cell renal carcinoma False False False -GARD:21419 Tubulocystic renal cell carcinoma False False False -GARD:21420 Inherited renal cancer-predisposing syndrome False False False -GARD:21421 Familial nonmedullary thyroid carcinoma False False False -GARD:21422 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency False False False -GARD:21423 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency False False False -GARD:21424 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency False False False -GARD:21425 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency False False False -GARD:21426 Primary lymphoma of the conjunctiva False False False -GARD:21427 Autoinflammatory syndrome of childhood False False False -GARD:21428 X-linked pure spastic paraplegia False False False -GARD:21429 Pure or complex hereditary spastic paraplegia False False False -GARD:2143 Junctional epidermolysis bullosa inversa False False False -GARD:21430 Pure or complex autosomal dominant spastic paraplegia False False False -GARD:21431 Pure or complex autosomal recessive spastic paraplegia False False False -GARD:21432 Pure or complex X-linked spastic paraplegia False False False -GARD:21433 MT-ATP6-related mitochondrial spastic paraplegia False False False -GARD:21434 Genetic tumor of hematopoietic and lymphoid tissues False False False -GARD:21435 Multiple paragangliomas associated with polycythemia False False False -GARD:21436 Severe lateral tibial bowing with short stature False False False -GARD:21437 9p13 microdeletion syndrome False False False -GARD:21438 Congenital achiasma False False False -GARD:21439 Mixed sclerosing bone dystrophy with extra-skeletal manifestations False False False -GARD:21440 Hereditary inclusion body myopathy type 4 False False False -GARD:21441 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome False False False -GARD:21442 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation False False False -GARD:21443 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome False False False -GARD:21444 Hyperinsulinism due to HNF1A deficiency False False False -GARD:21445 Benign Samaritan congenital myopathy False False False -GARD:21446 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain False False False -GARD:21447 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation False False False -GARD:21448 Hendra virus infection False False False -GARD:21449 Invasive non-typhoidal salmonellosis False False False -GARD:21450 Microcephalic primordial dwarfism False False False -GARD:21451 Trichorhinophalangeal syndrome False False False -GARD:21452 Non-familial rare disease with dilated cardiomyopathy False False False -GARD:21453 Hereditary periodic fever syndrome False False False -GARD:21454 Pyogenic autoinflammatory syndrome False False False -GARD:21455 Granulomatous autoinflammatory syndrome False False False -GARD:21456 Mixed autoinflammatory and autoimmune syndrome False False False -GARD:21457 Unclassified autoinflammatory syndrome False False False -GARD:21458 Periodic fever syndrome of childhood False False False -GARD:21459 Pyogenic autoinflammatory syndrome of childhood False False False -GARD:2146 Localized epidermolysis bullosa simplex False False False -GARD:21460 Granulomatous autoinflammatory syndrome of childhood False False False -GARD:21461 Unclassified autoinflammatory syndrome of childhood False False False -GARD:21462 Unexplained periodic fever syndrome of childhood False False False -GARD:21463 46,XX disorder of gonadal development False False False -GARD:21464 46,XX disorder of sex development induced by fetoplacental androgens excess False False False -GARD:21465 46,XX disorder of sex development induced by endogenous maternal-derived androgen False False False -GARD:21466 46,XX disorder of sex development induced by exogenous maternal-derived androgen False False False -GARD:21467 Syndrome with 46,XX disorder of sex development False False False -GARD:21468 46,XY disorder of gonadal development False False False -GARD:21469 46,XY ovotesticular disorder of sex development False False False -GARD:2147 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form False False False -GARD:21470 46,XY disorder of sex development of endocrine origin False False False -GARD:21471 46,XY disorder of sex development due to impaired androgen production False False False -GARD:21472 46,XY disorder of sex development due to a cholesterol synthesis defect False False False -GARD:21473 Classic congenital lipoid adrenal hyperplasia due to STAR deficency False False False -GARD:21474 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency False False False -GARD:21475 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors False False False -GARD:21476 Sex chromosome disorder of sex development False False False -GARD:21477 Disorder of sex development of gynecological interest False False False -GARD:21478 46,XY disorder of sex development of gynecological interest False False False -GARD:21479 Syndrome with disorder of sex development of gynecological interest False False False -GARD:2148 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement False False False -GARD:21480 Genetic disorder of sex development of gynecological interest False False False -GARD:21481 Genetic disorder of sex development False False False -GARD:21482 Genetic 46,XX disorder of sex development False False False -GARD:21483 Genetic 46,XY disorder of sex development False False False -GARD:21484 Genetic 46,XY disorder of sex development of endocrine origin False False False -GARD:21485 Cerebral sinovenous thrombosis False False False -GARD:21486 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency False False False -GARD:21487 Thrombocythemia with distal limb defects False False False -GARD:21488 Inverse Klippel-Trénaunay syndrome False False False -GARD:21489 Autosomal recessive frontotemporal pachygyria False False False -GARD:21490 Acute megakaryoblastic leukemia without Down syndrome False False False -GARD:21491 Spastic paraplegia-Paget disease of bone syndrome False False False -GARD:21492 Adult-onset distal myopathy due to VCP mutation False False False -GARD:21493 Mosaic genome-wide paternal uniparental disomy False False False -GARD:21494 Idiopathic giant cell myocarditis False False False -GARD:21495 Non-hypoproteinemic hypertrophic gastropathy False False False -GARD:21496 Juvenile idiopathic inflammatory myopathy False False False -GARD:21497 Juvenile overlap myositis False False False -GARD:21498 Transient neonatal multiple acyl-CoA dehydrogenase deficiency False False False -GARD:21499 Intermittent hydrarthrosis False False False -GARD:215 Familial caudal dysgenesis False False False -GARD:2150 Dystrophic epidermolysis bullosa False False False -GARD:21500 Classic neuroendocrine tumor of appendix False False False -GARD:21501 Wild type ATTR amyloidosis False False False -GARD:21502 High altitude pulmonary edema False False False -GARD:21503 Lead poisoning False False False -GARD:21504 Hypotrichosis-deafness syndrome False False False -GARD:21505 Hemoglobin Lepore-beta-thalassemia syndrome False False False -GARD:21506 Chronic actinic dermatitis False False False -GARD:21507 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability False False False -GARD:21508 Constitutional neutropenia with extra-hematopoietic manifestations False False False -GARD:21509 Other immunodeficiency syndromes due to defects in innate immunity False False False -GARD:21510 Syndrome with combined immunodeficiency False False False -GARD:21511 Immunodeficiency due to absence of thymus False False False -GARD:21512 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells False False False -GARD:21513 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells False False False -GARD:21514 Other immunodeficiency syndrome with predominantly antibody defects False False False -GARD:21515 Immunodeficiency syndrome with hypopigmentation False False False -GARD:21516 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis False False False -GARD:21517 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement False False False -GARD:21518 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement False False False -GARD:21519 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement False False False -GARD:2152 Junctional epidermolysis bullosa False False False -GARD:21520 Mitochondrial DNA maintenance syndrome False False False -GARD:21521 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome False False False -GARD:21522 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation False False False -GARD:21523 16q24.1 microdeletion syndrome False False False -GARD:21524 Phalangeal microgeodic syndrome False False False -GARD:21525 Autosomal recessive cerebellar ataxia with late-onset spasticity False False False -GARD:21526 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion False False False -GARD:21527 Attenuated Chédiak-Higashi syndrome False False False -GARD:21528 Disorder of melanin metabolism False False False -GARD:21529 Minimal pigment oculocutaneous albinism type 1 False False False -GARD:2153 Severe generalized junctional epidermolysis bullosa False False False -GARD:21530 Congenital retinal arteriovenous communication False False False -GARD:21531 Idiopathic macular telangiectasia type 1 False False False -GARD:21532 Idiopathic macular telangiectasia type 3 False False False -GARD:21533 Vasoproliferative tumor of the retina False False False -GARD:21534 3q26q27 microdeletion syndrome False False False -GARD:21535 Arterial thoracic outlet syndrome False False False -GARD:21536 Venous thoracic outlet syndrome False False False -GARD:21537 Primary essential cutis verticis gyrata False False False -GARD:21538 Primary non-essential cutis verticis gyrata False False False -GARD:21539 Idiopathic nephrotic syndrome False False False -GARD:21540 Genetic non-syndromic renal or urinary tract malformation False False False -GARD:21541 Congenital anomaly of the great veins False False False -GARD:21542 Ring chromosome False False False -GARD:21543 Genetic progeroid syndrome False False False -GARD:21544 Ciliopathy False False False -GARD:21545 Genetic syndromic Pierre Robin syndrome False False False -GARD:21546 Genetic intractable diarrhea of infancy False False False -GARD:21547 Genetic intestinal disease due to fat malabsorption False False False -GARD:21548 Genetic intestinal polyposis False False False -GARD:21549 Tumor of testis and paratestis False False False -GARD:2155 Localized dystrophic epidermolysis bullosa, pretibial form False False False -GARD:21550 Paratesticular adenocarcinoma False False False -GARD:21551 Sex cord-stromal tumor of testis False False False -GARD:21552 Acute encephalopathy with biphasic seizures and late reduced diffusion False False False -GARD:21553 Acute encephalopathy with inflammation-mediated status epilepticus False False False -GARD:21554 Gonadal germ cell tumor False False False -GARD:21555 LMNA-related cardiocutaneous progeria syndrome False False False -GARD:21556 20q11.2 microduplication syndrome False False False -GARD:21557 2p13.2 microdeletion syndrome False False False -GARD:21558 Balint syndrome False False False -GARD:21559 Koolen-De Vries syndrome due to a point mutation False False False -GARD:21560 Autosomal recessive cerebral atrophy False False False -GARD:21561 Immune hydrops fetalis False False False -GARD:21562 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood False False False -GARD:21563 Hydroa vacciniforme-like lymphoma False False False -GARD:21564 ALK-positive large B-cell lymphoma False False False -GARD:21565 Severe early-childhood-onset retinal dystrophy False False False -GARD:21566 Bipartite talus False False False -GARD:21567 Primary bone dysplasia False False False -GARD:21568 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments False False False -GARD:21569 Primary bone dysplasia with micromelia False False False -GARD:21570 Otopalatodigital syndrome spectrum disorder False False False -GARD:21571 Dysostosis False False False -GARD:21572 Dysostosis with limb anomaly as a major feature False False False -GARD:21573 Dysostosis with limb and face anomalies as a major feature False False False -GARD:21574 Acrofacial dysostosis False False False -GARD:21575 Rare bone disease related to a common gene or pathway defect False False False -GARD:21576 Aggrecan-related bone disorder False False False -GARD:21577 TRPV4-related bone disorder False False False -GARD:21578 Primary short bowel syndrome False False False -GARD:21579 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome False False False -GARD:21580 Obesity due to SIM1 deficiency False False False -GARD:21581 2p21 microdeletion syndrome without cystinuria False False False -GARD:21582 Homozygous 2p21 microdeletion syndrome False False False -GARD:21583 Intellectual disability-seizures-macrocephaly-obesity syndrome False False False -GARD:21584 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome False False False -GARD:21585 Intellectual disability-facial dysmorphism-hand anomalies syndrome False False False -GARD:21586 Spondyloepimetaphyseal dysplasia, Isidor type False False False -GARD:21587 Spondylometaphyseal dysplasia, Czarny-Ratajczak type False False False -GARD:21588 Acute myeloid leukemia with t(8;16)(p11;p13) translocation False False False -GARD:21589 Familial syringomyelia False False False -GARD:21590 Angora hair nevus False False False -GARD:21591 Didymosis aplasticosebacea False False False -GARD:21592 SCALP syndrome False False False -GARD:21593 NEVADA syndrome False False False -GARD:21594 Fetal anticonvulsant syndrome False False False -GARD:21595 Fetal carbamazepine syndrome False False False -GARD:21596 Rare disorder with dystonia and other neurologic or systemic manifestation False False False -GARD:21597 Ataxia-telangiectasia variant False False False -GARD:21598 Medich giant platelet syndrome False False False -GARD:21599 XYLT1-CDG False False False -GARD:216 Camptodactyly-joint contractures-facial skeletal defects syndrome False False False -GARD:21600 Congenital muscular dystrophy with hyperlaxity False False False -GARD:21601 Qualitative or quantitative defects of alpha-dystroglycan False False False -GARD:21602 Primary qualitative or quantitative defects of alpha-dystroglycan False False False -GARD:21603 Congenital disorder of glycosylation with neurological involvement False False False -GARD:21604 Congenital disorder of glycosylation with epilepsy as a major feature False False False -GARD:21605 Congenital disorder of glycosylation with hepatic involvement False False False -GARD:21606 Congenital disorder of glycosylation with dilated cardiomyopathy False False False -GARD:21607 Congenital disorder of glycosylation with cardiac malformation as a major feature False False False -GARD:21608 Congenital disorder of glycosylation with intestinal involvement False False False -GARD:21609 Congenital disorder of glycosylation-related bone disorder False False False -GARD:21610 Congenital disorder of glycosylation with skin involvement False False False -GARD:21611 Congenital disorder of glycosylation with nephropathy as a major feature False False False -GARD:21612 Congenital disorder of glycosylation with deafness as a major feature False False False -GARD:21613 Genetic periodic paralysis False False False -GARD:21614 Genetic neurovascular malformation False False False -GARD:21615 Sphingolipidosis with epilepsy False False False -GARD:21616 Genetic syndromic esophageal malformation False False False -GARD:21617 Genetic hyperaldosteronism False False False -GARD:21618 Generalized isolated dystonia False False False -GARD:21619 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression False False False -GARD:2162 Juvenile absence epilepsy False False False -GARD:21620 Fatal post-viral neurodegenerative disorder False False False -GARD:21621 Growth retardation-mild developmental delay-chronic hepatitis syndrome False False False -GARD:21622 Disorder of asparagine metabolism False False False -GARD:21623 Adult-onset myasthenia gravis False False False -GARD:21624 Juvenile myasthenia gravis False False False -GARD:21625 Transient neonatal myasthenia gravis False False False -GARD:21626 Glomus tumor False False False -GARD:21627 Off-periods in Parkinson disease not responding to oral treatment False False False -GARD:21628 Persistent combined dystonia False False False -GARD:21629 Mucinous adenocarcinoma of the appendix False False False -GARD:21630 Rare genetic dystonia False False False -GARD:21631 Deep dermatophytosis False False False -GARD:21632 PrP systemic amyloidosis False False False -GARD:21633 3q27.3 microdeletion syndrome False False False -GARD:21634 Periodic paralysis with later-onset distal motor neuropathy False False False -GARD:21635 Periodic paralysis with transient compartment-like syndrome False False False -GARD:21636 T+ B+ severe combined immunodeficiency False False False -GARD:21637 Ferro-cerebro-cutaneous syndrome False False False -GARD:21638 Adenocarcinoma of the penis False False False -GARD:21639 Squamous cell carcinoma of the penis False False False -GARD:21640 Refractory celiac disease False False False -GARD:21641 Prader-Willi-like syndrome False False False -GARD:21642 SIM1-related Prader-Willi-like syndrome False False False -GARD:21643 Secondary neonatal autoimmune disease False False False -GARD:21644 Neonatal antiphospholipid syndrome False False False -GARD:21645 Neonatal autoimmune hemolytic anemia False False False -GARD:21646 Neonatal dermatomyositis False False False -GARD:21647 Neonatal lupus erythematosus False False False -GARD:21648 Neonatal scleroderma False False False -GARD:21649 Persistent idiopathic facial pain False False False -GARD:21650 Malignant non-epithelial tumor of ovary False False False -GARD:21651 Mucinous adenocarcinoma of ovary False False False -GARD:21652 Clear cell adenocarcinoma of the ovary False False False -GARD:21653 Primary peritoneal serous/papillary carcinoma False False False -GARD:21654 Malignant teratoma of ovary False False False -GARD:21655 KLHL9-related early-onset distal myopathy False False False -GARD:21656 Distal nebulin myopathy False False False -GARD:21657 Osteonecrosis False False False -GARD:21658 Avascular necrosis False False False -GARD:21659 Secondary avascular necrosis False False False -GARD:2166 Celiac disease-epilepsy-cerebral calcification syndrome False False False -GARD:21660 Traumatic avascular necrosis False False False -GARD:21661 Secondary non-traumatic avascular necrosis False False False -GARD:21662 Rare hereditary disease with avascular necrosis False False False -GARD:21663 Osteonecrosis of the jaw False False False -GARD:21664 Primary avascular necrosis False False False -GARD:21665 Idiopathic avascular necrosis False False False -GARD:21666 Epiphysiolysis of the hip False False False -GARD:21667 Osteonecrosis of genetic origin False False False -GARD:21668 Avascular necrosis of genetic origin False False False -GARD:21669 Osteochondrosis of genetic origin False False False -GARD:2167 Progressive myoclonic epilepsy type 3 False False False -GARD:21670 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder False False False -GARD:21671 Rare male infertility due to adrenal disorder False False False -GARD:21672 Rare male infertility due to testicular endocrine disorder False False False -GARD:21673 Male infertility due to gonadal dysgenesis or sperm disorder False False False -GARD:21674 Male infertility due to sperm disorder False False False -GARD:21675 Male infertility with spermatogenesis disorder False False False -GARD:21676 Male infertility due to sperm motility disorder False False False -GARD:21677 Rare disorder with obstructive azoospermia False False False -GARD:21678 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder False False False -GARD:21679 Rare female infertility due to a congenital hypogonadotropic hypogonadism False False False -GARD:2168 Epilepsy-telangiectasia syndrome False False False -GARD:21680 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism False False False -GARD:21681 Rare female infertility due to an adrenal disorder False False False -GARD:21682 Rare female infertility due to an anomaly of ovarian function False False False -GARD:21683 Rare female infertility due to gonadal dysgenesis False False False -GARD:21684 Rare female infertility due to an implantation defect False False False -GARD:21685 Rare genetic male infertility False False False -GARD:21686 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin False False False -GARD:21687 Rare male infertility due to adrenal disorder of genetic origin False False False -GARD:21688 Male infertility due to obstructive azoospermia of genetic origin False False False -GARD:21689 Rare genetic disorder with obstructive azoospermia False False False -GARD:2169 Myoclonic-astatic epilepsy False False False -GARD:21690 Rare genetic female infertility False False False -GARD:21691 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin False False False -GARD:21692 Rare female infertility due to adrenal disorder of genetic origin False False False -GARD:21693 Rare female infertility due to an anomaly of ovarian function of genetic origin False False False -GARD:21694 Female infertility due to an implantation defect of genetic origin False False False -GARD:21695 Autosomal recessive spastic paraplegia type 59 False False False -GARD:21696 Autosomal recessive spastic paraplegia type 60 False False False -GARD:21697 Autosomal recessive spastic paraplegia type 66 False False False -GARD:21698 Autosomal recessive spastic paraplegia type 67 False False False -GARD:21699 Autosomal recessive spastic paraplegia type 69 False False False -GARD:2170 Benign occipital epilepsy False False False -GARD:21700 Autosomal recessive spastic paraplegia type 70 False False False -GARD:21701 Autosomal recessive spastic paraplegia type 71 False False False -GARD:21702 Huntington disease-like syndrome due to C9ORF72 expansions False False False -GARD:21703 AXIN2-related attenuated familial adenomatous polyposis False False False -GARD:21704 Fibrolamellar hepatocellular carcinoma False False False -GARD:21705 9q31.1q31.3 microdeletion syndrome False False False -GARD:21706 14q24.1q24.3 microdeletion syndrome False False False -GARD:21707 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome False False False -GARD:21708 Cold-induced sweating syndrome-hyperthermia spectrum False False False -GARD:21709 Lichen myxedematosus False False False -GARD:21710 Acute myeloid leukemia with t(6;9)(p23;q34) False False False -GARD:21711 Acute myeloid leukemia with t(9;11)(p22;q23) False False False -GARD:21712 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) False False False -GARD:21713 Acute myeloid leukemia with NPM1 somatic mutations False False False -GARD:21714 Primary eosinophilic gastrointestinal disease False False False -GARD:21715 Eosinophilic colitis False False False -GARD:21716 Hepatitis delta False False False -GARD:21717 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome False False False -GARD:21718 Rare female infertility due to oocyte maturation defect False False False -GARD:21719 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome False False False -GARD:21720 Chondromyxoid fibroma False False False -GARD:21721 Clear cell papillary renal cell carcinoma False False False -GARD:21722 Acquired cystic disease-associated renal cell carcinoma False False False -GARD:21723 Spinal muscular atrophy with respiratory distress type 2 False False False -GARD:21724 X-linked distal hereditary motor neuropathy False False False -GARD:21725 Dysostosis of genetic origin False False False -GARD:21726 Dysostosis of genetic origin with limb anomaly as a major feature False False False -GARD:21727 Genetic syndrome with limb reduction defects False False False -GARD:21728 Genetic syndrome with limb malformations as a major feature False False False -GARD:21729 Polyarticular juvenile idiopathic arthritis False False False -GARD:2173 Familial partial epilepsy False False False -GARD:21730 Rare genetic bone development disorder False False False -GARD:21731 Williams-Campbell syndrome False False False -GARD:21732 Angelman syndrome due to a point mutation False False False -GARD:21733 Angelman syndrome due to imprinting defect in 15q11-q13 False False False -GARD:21734 Central retinal vein occlusion False False False -GARD:21735 Proton-pump inhibitor-responsive esophageal eosinophilia False False False -GARD:21736 Generalized eruptive keratoacanthoma False False False -GARD:21737 13q12.3 microdeletion syndrome False False False -GARD:21738 PRKAR1B-related neurodegenerative dementia with intermediate filaments False False False -GARD:21739 Dystonia-aphonia syndrome False False False -GARD:21740 Genetic facial cleft False False False -GARD:21741 Carcinoma of esophagus, salivary gland type False False False -GARD:21742 Undifferentiated carcinoma of esophagus False False False -GARD:21743 Squamous cell carcinoma of the stomach False False False -GARD:21744 Secondary pulmonary alveolar proteinosis False False False -GARD:21745 Semicircular canal dehiscence syndrome False False False -GARD:21746 Glycogen storage disease due to acid maltase deficiency, late-onset False False False -GARD:21747 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency False False False -GARD:21748 Rare genetic odontal or periodontal disorder False False False -GARD:21749 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea False False False -GARD:21750 Cono-spondylar dysplasia False False False -GARD:21751 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome False False False -GARD:21752 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome False False False -GARD:21753 ARX-related encephalopathy-brain malformation spectrum False False False -GARD:21754 Rare autonomic nervous system disorder False False False -GARD:21755 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect False False False -GARD:21756 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy False False False -GARD:21757 Rare carcinoma of stomach False False False -GARD:21758 Hereditary gastric cancer False False False -GARD:21759 Undifferentiated carcinoma of stomach False False False -GARD:21760 Rare tumor of small intestine False False False -GARD:21761 Mesenchymal tumor of small intestine False False False -GARD:21762 Microcephaly-complex motor and sensory axonal neuropathy syndrome False False False -GARD:21763 Rare carcinoma of small intestine False False False -GARD:21764 Squamous cell carcinoma of the small intestine False False False -GARD:21765 Neuroendocrine tumor of the small intestine False False False -GARD:21766 Epithelial tumor of the appendix False False False -GARD:21767 Rare epithelial tumor of colon False False False -GARD:21768 Squamous cell carcinoma of the colon False False False -GARD:21769 Rare epithelial tumor of rectum False False False -GARD:21770 Squamous cell carcinoma of the rectum False False False -GARD:21771 Epithelial tumor of anal canal False False False -GARD:21772 Carcinoma of the anal canal False False False -GARD:21773 Adenocarcinoma of the anal canal False False False -GARD:21774 Squamous cell carcinoma of the anal canal False False False -GARD:21775 Rare epithelial tumor of pancreas False False False -GARD:21776 Squamous cell carcinoma of pancreas False False False -GARD:21777 Acinar cell carcinoma of pancreas False False False -GARD:21778 Mucinous cystadenocarcinoma of the pancreas False False False -GARD:21779 Intraductal papillary mucinous carcinoma of pancreas False False False -GARD:2178 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome False False False -GARD:21780 Solid pseudopapillary carcinoma of pancreas False False False -GARD:21781 Serous cystadenocarcinoma of pancreas False False False -GARD:21782 Osteoclastic giant cell tumor of pancreas False False False -GARD:21783 Congenital myopathy with myasthenic-like onset False False False -GARD:21784 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 False False False -GARD:21785 Rare malignant epithelial tumor of liver and intrahepatic biliary tract False False False -GARD:21786 Carcinoma of liver and intrahepatic biliary tract False False False -GARD:21787 Adenocarcinoma of the liver and intrahepatic biliary tract False False False -GARD:21788 Undifferentiated carcinoma of liver and intrahepatic biliary tract False False False -GARD:21789 Squamous cell carcinoma of liver and intrahepatic biliary tract False False False -GARD:21790 Biliary cystadenocarcinoma False False False -GARD:21791 Adenocarcinoma of the gallbladder and extrahepatic biliary tract False False False -GARD:21792 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract False False False -GARD:21793 Inherited digestive cancer-predisposing syndrome False False False -GARD:21794 Rare epithelial tumor of small intestine False False False -GARD:21795 Primary immunodeficiency with predisposition to severe viral infection False False False -GARD:21796 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies False False False -GARD:21797 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder False False False -GARD:21798 Patent urachus False False False -GARD:21799 Urachal sinus False False False -GARD:218 Rotor syndrome False False False -GARD:2180 Multiple epiphyseal dysplasia type 1 False False False -GARD:21800 Urachal diverticulum False False False -GARD:21801 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis False False False -GARD:21802 Rare genetic autonomic nervous system disorder False False False -GARD:21803 Syndrome with woolly hair False False False -GARD:21804 Fetal lower urinary tract obstruction False False False -GARD:21805 Anterior urethral valve False False False -GARD:21806 Genetic precocious puberty False False False -GARD:21807 Precocious puberty in female False False False -GARD:21808 Genetic precocious puberty in female False False False -GARD:21809 Genetic otorhinolaryngological malformation False False False -GARD:21810 Genetic nose and cavum anomaly False False False -GARD:21811 Genetic larynx anomaly False False False -GARD:21812 Genetic tracheal anomaly False False False -GARD:21813 3p25.3 microdeletion syndrome False False False -GARD:21814 Congenital urachal anomaly False False False -GARD:21815 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation False False False -GARD:21816 Contractures-developmental delay-Pierre Robin syndrome False False False -GARD:21817 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome False False False -GARD:21818 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome False False False -GARD:21819 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy False False False -GARD:21820 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa False False False -GARD:21821 Disorder of keton body transport False False False -GARD:21822 Human infection by orthopoxvirus False False False -GARD:21823 Placental insufficiency False False False -GARD:21824 Pediatric arterial ischemic stroke False False False -GARD:21825 Zinc-responsive necrolytic acral erythema False False False -GARD:21826 Non-recovering obstetric brachial plexus lesion False False False -GARD:21827 ALECT2 amyloidosis False False False -GARD:21828 AApoAIV amyloidosis False False False -GARD:21829 ABeta2M amyloidosis False False False -GARD:21830 Primary polyarteritis nodosa False False False -GARD:21831 Secondary polyarteritis nodosa False False False -GARD:21832 Single-organ polyarteritis nodosa False False False -GARD:21833 Systemic polyarteritis nodosa False False False -GARD:21834 Autosomal recessive severe congenital neutropenia False False False -GARD:21835 Plastic bronchitis False False False -GARD:21836 Congenital oculomotor nerve palsy False False False -GARD:21837 Congenital abducens nerve palsy False False False -GARD:21838 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome False False False -GARD:21839 Necrotizing soft tissue infection False False False -GARD:21840 Familial colorectal cancer Type X False False False -GARD:21841 Disorders of pentose/polyol metabolism False False False -GARD:21842 Extensive peripapillary myelinated nerve fibers False False False -GARD:21843 Combined hamartoma of the retina and retinal pigment epithelium False False False -GARD:21844 Isolated agenesis of gallbladder False False False -GARD:21845 Syndromic hereditary optic neuropathy False False False -GARD:21846 Early-onset posterior subcapsular cataract False False False -GARD:21847 AH amyloidosis False False False -GARD:21848 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect False False False -GARD:21849 Hyperinsulinemic hypoglycaemia False False False -GARD:21850 Hypothalamic adipsic hypernatraemia syndrome False False False -GARD:21851 Lymphoplasmacytic lymphoma without IgM production False False False -GARD:21852 NUT midline carcinoma False False False -GARD:21853 Postpartum psychosis False False False -GARD:21854 Spontaneous intracranial hypotension False False False -GARD:21855 Paratyphoid fever False False False -GARD:21856 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor False False False -GARD:21857 HIV-associated cancer False False False -GARD:21858 11q22.2q22.3 microdeletion syndrome False False False -GARD:21859 20q11.2 microdeletion syndrome False False False -GARD:21860 Idiopathic phalangeal acro-osteolysis False False False -GARD:21861 Pseudohypoaldosteronism False False False -GARD:21862 Caudal regression-sirenomelia spectrum False False False -GARD:21863 Secondary vasculitis False False False -GARD:21864 NIK deficiency False False False -GARD:21865 Susceptibility to localized juvenile periodontitis False False False -GARD:21866 Autosomal dominant spastic paraplegia type 9B False False False -GARD:21867 IgG4-related sclerosing cholangitis False False False -GARD:21868 Sclerosing cholangitis False False False -GARD:21869 Secondary sclerosing cholangitis False False False -GARD:21870 Keratocystic odontogenic tumor False False False -GARD:21871 Cerebral visual impairment False False False -GARD:21872 Lipoyl transferase 2 deficiency False False False -GARD:21873 Biological anomaly without phenotypic characterization False False False -GARD:21874 Idiopathic dropped head syndrome False False False -GARD:21875 19p13.3 microduplication syndrome False False False -GARD:21876 Partial duplication of the short arm of chromosome 19 False False False -GARD:21877 Ectopia cordis False False False -GARD:21878 Genetic primary orthostatic hypotension False False False -GARD:21879 Pleural empyema False False False -GARD:2188 Erosive pustular dermatosis of the scalp False False False -GARD:21880 Scedosporiosis False False False -GARD:21881 Snakebite envenomation False False False -GARD:21882 IgG4-related kidney disease False False False -GARD:21883 IgG4-related aortitis False False False -GARD:21884 IgG4-related submandibular gland disease False False False -GARD:21885 IgG4-related ophthalmic disease False False False -GARD:21886 Eosinophilic angiocentric fibrosis False False False -GARD:21887 Polyclonal hyperviscosity syndrome False False False -GARD:21888 Primary cutaneous plasmacytosis False False False -GARD:21889 Cutaneous pseudolymphoma False False False -GARD:21890 Congenital insensitivity to pain with severe intellectual disability False False False -GARD:21891 Progressive muscular atrophy False False False -GARD:21892 Anti-p200 pemphigoid False False False -GARD:21893 Endometrioid carcinoma of ovary False False False -GARD:21894 Variably protease-sensitive prionopathy False False False -GARD:21895 Isolated tracheoesophageal fistula False False False -GARD:21896 Acute radiation syndrome False False False -GARD:21897 Avian influenza False False False -GARD:21898 1p35.2 microdeletion syndrome False False False -GARD:21899 Hereditary neuroendocrine tumor of small intestine False False False -GARD:21900 Pseudohypoparathyroidism without Albright hereditary osteodystrophy False False False -GARD:21901 Congenital nemaline myopathy False False False -GARD:21902 TAFRO syndrome False False False -GARD:21903 Isolated splenogonadal fusion False False False -GARD:21904 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome False False False -GARD:21905 Clear cell sarcoma of kidney False False False -GARD:21906 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome False False False -GARD:21907 Composite hemangioendothelioma False False False -GARD:21908 Retiform hemangioendothelioma False False False -GARD:21909 Primary intralymphatic angioendothelioma False False False -GARD:2191 Complement component 5 deficiency False False False -GARD:21910 Congenital hemangioma False False False -GARD:21911 Partially involuting congenital hemangioma False False False -GARD:21912 Mixed cystic lymphatic malformation False False False -GARD:21913 Vascular tumor with associated anomalies False False False -GARD:21914 Rare capillary malformation with associated anomalies False False False -GARD:21915 Common cystic lymphatic malformation False False False -GARD:21916 Rare combined vascular malformation False False False -GARD:21917 Rare vascular malformation of major vessels False False False -GARD:21918 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome False False False -GARD:21919 Immunodeficiency due to a complement cascade component deficiency False False False -GARD:2192 Congenital lethal erythroderma False False False -GARD:21920 Immunodeficiency due to a complement regulatory deficiency False False False -GARD:21921 Rare genetic capillary malformation False False False -GARD:21922 Genetic complex vascular malformation with associated anomalies False False False -GARD:21923 Rare genetic vascular tumor False False False -GARD:21924 Rare genetic venous malformation False False False -GARD:21925 Lethal multiple congenital anomalies/dysmorphic syndrome False False False -GARD:21926 Intellectual disability syndrome due to a DYRK1A point mutation False False False -GARD:21927 Verrucous hemangioma False False False -GARD:21928 Benign metanephric tumor False False False -GARD:21929 Neonatal alloimmune neutropenia False False False -GARD:21930 Acquired methemoglobinemia False False False -GARD:21931 Paracetamol poisoning False False False -GARD:21932 Familial gastric type 1 neuroendocrine tumor False False False -GARD:21933 Immune-mediated acquired neuromuscular junction disease False False False -GARD:21934 Genetic hemoglobinopathy False False False -GARD:21935 Genetic otorhinolaryngologic disease False False False -GARD:21936 Exercise-induced malignant hyperthermia False False False -GARD:21937 Rare disease with malignant hyperthermia False False False -GARD:21938 Cyanide poisoning False False False -GARD:21939 Scorpion envenomation False False False -GARD:21940 Euthyroid Graves orbitopathy False False False -GARD:21941 Supratip dysplasia False False False -GARD:21942 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome False False False -GARD:21943 SMARCA4-deficient sarcoma of thorax False False False -GARD:21944 Tubulinopathy-associated dysgyria False False False -GARD:21945 Cryptogenic multifocal ulcerous stenosing enteritis False False False -GARD:21946 Chronic enteropathy associated with SLCO2A1 gene False False False -GARD:21947 Genetic lethal multiple congenital anomalies/dysmorphic syndrome False False False -GARD:21948 Rare congenital anomaly of ventricular septum False False False -GARD:21949 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome False False False -GARD:2195 Thickened earlobes-conductive deafness syndrome False False False -GARD:21950 Erythrokeratodermia-cardiomyopathy syndrome False False False -GARD:21951 Axonal hereditary motor and sensory neuropathy False False False -GARD:21952 Demyelinating hereditary motor and sensory neuropathy False False False -GARD:21953 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome False False False -GARD:21954 Intermediate Charcot-Marie-Tooth disease False False False -GARD:21955 Hypercontractile muscle stiffness syndrome False False False -GARD:21956 Congenital generalized hypercontractile muscle stiffness syndrome False False False -GARD:21957 Type 1 interferonopathy False False False -GARD:21958 Fibroblastic rheumatism False False False -GARD:21959 Nodular fasciitis False False False -GARD:21960 Genetic cerebral small vessel disease False False False -GARD:21961 COL4A1 or COL4A2-related cerebral small vessel disease False False False -GARD:21962 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy False False False -GARD:21963 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy False False False -GARD:21964 Moyamoya angiopathy False False False -GARD:21965 Rare disorder with a moyamoya angiopathy False False False -GARD:21966 Primary condylar hyperplasia False False False -GARD:21967 Syndromic constitutional thrombocytopenia False False False -GARD:21968 Isolated constitutional thrombocytopenia False False False -GARD:21969 Genetic cardiac malformation False False False -GARD:2197 Esthesioneuroblastoma False False False -GARD:21970 Other genetic dermis disorder False False False -GARD:21971 Rare hypercholesterolemia False False False -GARD:21972 MYO5B-related progressive familial intrahepatic cholestasis False False False -GARD:21973 Choledochal cyst False False False -GARD:21974 Primary intrahepatic lithiasis False False False -GARD:21975 Idiopathic ductopenia False False False -GARD:21976 Caroli syndrome False False False -GARD:21977 Idiopathic peliosis hepatis False False False -GARD:21978 Lethal hydranencephaly-diaphragmatic hernia syndrome False False False -GARD:21979 Congenital portosystemic shunt False False False -GARD:2198 Ethylmalonic encephalopathy False False False -GARD:21980 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement False False False -GARD:21981 Non-severe combined immunodeficiency False False False -GARD:21982 Aneurysmal bone cyst False False False -GARD:21983 Isolated neonatal sclerosing cholangitis False False False -GARD:21984 Facial diplegia with paresthesias False False False -GARD:21985 Gastroenteric neuroendocrine neoplasm False False False -GARD:21986 Type 1 interferonopathy of childhood False False False -GARD:21987 Genetic alopecia False False False -GARD:21988 HTRA1-related cerebral small vessel disease False False False -GARD:21989 Rare idiopathic macular telangiectasia False False False -GARD:21990 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome False False False -GARD:21991 Propylthiouracil embryofetopathy False False False -GARD:21992 Genetic non-acquired premature ovarian failure False False False -GARD:21993 16p12.1p12.3 triplication syndrome False False False -GARD:21994 EMILIN-1-related connective tissue disease False False False -GARD:21995 Isolated congenital hepatic fibrosis False False False -GARD:21996 Congenital bile acid synthesis defect False False False -GARD:21997 Rare pediatric rheumatologic disease False False False -GARD:21998 Pediatric collagenous gastritis False False False -GARD:21999 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation False False False -GARD:22 Björnstad syndrome False False False -GARD:220 Peripartum cardiomyopathy False False False -GARD:22000 Acute macular neuroretinopathy False False False -GARD:22001 SIX2-related frontonasal dysplasia False False False -GARD:22002 Congenital amyoplasia False False False -GARD:22003 Extracranial carotid artery aneurysm False False False -GARD:22004 Idiopathic pleuroparenchymal fibroelastosis False False False -GARD:22005 Vulvar squamous cell carcinoma False False False -GARD:22006 Vulvar basal cell carcinoma False False False -GARD:22007 Vulvar adenocarcinoma False False False -GARD:22008 Rare hyperkinetic movement disorder False False False -GARD:22009 9q33.3q34.11 microdeletion syndrome False False False -GARD:22010 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome False False False -GARD:22011 Congenital agenesis of the scrotum False False False -GARD:22012 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome False False False -GARD:22013 Rare genetic hyperkinetic movement disorder False False False -GARD:22014 Non-inflammatory vasculopathy False False False -GARD:22015 C12ORF65-related combined oxidative phosphorylation defect False False False -GARD:22016 Epidermolytic nevus False False False -GARD:22017 Menstrual cycle-dependent periodic fever False False False -GARD:22018 Biliary atresia and associated disorders False False False -GARD:22019 Syndromic biliary atresia False False False -GARD:2202 Exostoses-anetodermia-brachydactyly type E syndrome False False False -GARD:22020 Genetic inflammatory or rheumatoid-like osteoarthropathy False False False -GARD:22021 Overgrowth or tall stature syndrome with skeletal involvement False False False -GARD:22022 Dysostosis with brachydactyly without extraskeletal manifestations False False False -GARD:22023 Dysostosis with brachydactyly with extraskeletal manifestations False False False -GARD:22024 Longitudinal limb defect False False False -GARD:22025 Terminal transverse limb defect False False False -GARD:22026 Non-syndromic preaxial polydactyly False False False -GARD:22027 Non-syndromic postaxial polydactyly False False False -GARD:22028 Non-syndromic complex polydactyly False False False -GARD:22029 Hyaline fibromatosis syndrome False False False -GARD:22030 Ectrodactyly with and without other manifestations False False False -GARD:22031 LRP5-related primary osteoporosis False False False -GARD:22032 Overgrowth syndrome with 2q37 translocation False False False -GARD:22033 Complete hemimelia False False False -GARD:22034 Mirror-image polydactyly False False False -GARD:22035 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome False False False -GARD:22036 Congenital syphilis False False False -GARD:22037 Autoimmune/inflammatory optic neuropathy False False False -GARD:22038 Chronic relapsing inflammatory optic neuropathy False False False -GARD:22039 Isolated optic neuritis False False False -GARD:2204 Exostoses, multiple, type i False False False -GARD:22040 Recurrent idiopathic neuroretinitis False False False -GARD:22041 Idiopathic optic perineuritis False False False -GARD:22042 Pilomatrix carcinoma False False False -GARD:22043 Witteveen-Kolk syndrome False False False -GARD:22044 Cochleovestibular malformation False False False -GARD:22045 Cochlear nerve deficiency False False False -GARD:22046 Squamous cell carcinoma of oral cavity and lip False False False -GARD:22047 Metopic ridging-ptosis-facial dysmorphism syndrome False False False -GARD:22048 4q25 proximal deletion syndrome False False False -GARD:22049 Erythema multiforme major False False False -GARD:2205 Exostoses, multiple, type ii False False False -GARD:22050 3-methylglutaconic aciduria type 8 False False False -GARD:22051 Ventilator-induced diaphragmatic dysfunction False False False -GARD:22052 Neuroendocrine neoplasm of pancreas False False False -GARD:22053 Functioning neuroendocrine tumor of pancreas False False False -GARD:22054 Non-functioning neuroendocrine tumor of pancreas False False False -GARD:22055 Serotonin-producing neuroendocrine tumor of pancreas False False False -GARD:22056 Neuroendocrine carcinoma of pancreas False False False -GARD:22057 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas False False False -GARD:22058 Neuroendocrine neoplasm of esophagus False False False -GARD:22059 Rare disorder potentially indicated for transplant False False False -GARD:2206 Exostoses, multiple, type iii False False False -GARD:22060 Rare disorder potentially indicated for liver transplant False False False -GARD:22061 Rare disorder potentially indicated for kidney transplant False False False -GARD:22062 Rare disorder potentially indicated for bowel transplant False False False -GARD:22063 Rare disorder potentially indicated for hematopoietic stem cell transplant False False False -GARD:22064 Rare disorder potentially indicated for lung transplant False False False -GARD:22065 Rare disorder potentially indicated for heart transplant False False False -GARD:22066 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome False False False -GARD:22067 Familial intestinal malrotation False False False -GARD:22068 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome False False False -GARD:22069 Oral-facial-digital syndrome with short stature and brachymesophalangy False False False -GARD:2207 Exstrophy-epispadias complex False False False -GARD:22070 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome False False False -GARD:22071 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome False False False -GARD:22072 Chronic lymphoproliferative disorder of natural killer cells False False False -GARD:22073 Large granular lymphocyte leukemia False False False -GARD:22074 Autosomal recessive epidermolytic ichthyosis False False False -GARD:22075 Congenital cerebellar ataxia due to RNU12 mutation False False False -GARD:22076 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome False False False -GARD:22077 ATP13A2-related parkinsonism False False False -GARD:22078 Inflammatory/autoimmune disorder involving the lacrimal system False False False -GARD:22079 Rare disorder of the ocular adnexa False False False -GARD:22080 Rare disorder with ectropion False False False -GARD:22081 Rare disorder with entropion False False False -GARD:22082 Structural developmental eye defect False False False -GARD:22083 Syndromic lacrimal system disorder False False False -GARD:22084 Anterior segment developmental abnormality with extraocular manifestations False False False -GARD:22085 Infective keratitis False False False -GARD:22086 Rare conjunctivitis False False False -GARD:22087 Rare corneal disorder False False False -GARD:22088 Rare disorder of the anterior segment of the eye False False False -GARD:22089 Rare disorder of the pupil False False False -GARD:22090 Rare disorder with corneal involvement as a major feature False False False -GARD:22091 Rare inflammatory/autoimmune corneal disorder False False False -GARD:22092 Syndromic ectopia lentis False False False -GARD:22093 Syndromic microspherophakia False False False -GARD:22094 Rare disorder with pigmented sclera False False False -GARD:22095 Rare scleral disorder False False False -GARD:22096 Isolated chorioretinal dystrophy False False False -GARD:22097 Isolated macular dystrophy False False False -GARD:22098 Isolated vitreoretinopathy False False False -GARD:22099 Isolated progressive inherited retinal disorder False False False -GARD:221 Dilated cardiomyopathy False False False -GARD:22100 Rare choroidal disorder False False False -GARD:22101 Rare disorder of the posterior segment of the eye False False False -GARD:22102 Rare macular disorder False False False -GARD:22103 Rare retinal disorder False False False -GARD:22104 Rare retinal vasculopathy False False False -GARD:22105 Isolated stationary inherited retinal disorder False False False -GARD:22106 Syndromic chorioretinal dystrophy False False False -GARD:22107 Syndromic macular dystrophy False False False -GARD:22108 Syndromic inherited retinal disorder False False False -GARD:22109 Syndromic vitreoretinopathy False False False -GARD:22110 Rare disorder involving multiple structures of the eye False False False -GARD:22111 Secondary early-onset glaucoma False False False -GARD:22112 Congenital optic disc excavation False False False -GARD:22113 Disorder with optic nerve compression False False False -GARD:22114 Pseudopapilledema False False False -GARD:22115 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature False False False -GARD:22116 Rare ophthalmic disorder with cortical involvement False False False -GARD:22117 Rare disorder with optic disc malformation False False False -GARD:22118 Rare neuromuscular disorder with ocular motility/alignment anomaly False False False -GARD:22119 Rare ophthalmic disorder with cranial nerve involvement False False False -GARD:22120 Rare optic nerve disorder False False False -GARD:22121 Rare trochlear nerve disorder False False False -GARD:22122 Rare ocular motility/alignment disorder False False False -GARD:22123 Isolated congenital entropion False False False -GARD:22124 Isolated blepharochalasis False False False -GARD:22125 Isolated iridoschisis False False False -GARD:22126 Isolated microspherophakia False False False -GARD:22127 Isolated foveal hypoplasia False False False -GARD:22128 Peripapillary staphyloma False False False -GARD:22129 Isolated megalopapilla False False False -GARD:2213 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome False False False -GARD:22130 Optic disc pit False False False -GARD:22131 Thygeson superficial punctate keratitis False False False -GARD:22132 Mooren ulcer False False False -GARD:22133 Terrien marginal degeneration False False False -GARD:22134 Fungal keratitis False False False -GARD:22135 Rare disorder of the visual organs False False False -GARD:22136 Isolated inherited retinal disorder False False False -GARD:22137 Radiation-induced plexopathy False False False -GARD:22138 Osteoradionecrosis of the mandible False False False -GARD:22139 Radiation-induced disorder False False False -GARD:22140 Genetic primary orthostatic disorder False False False -GARD:22141 Primary orthostatic disorder False False False -GARD:22142 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome False False False -GARD:22143 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect False False False -GARD:22144 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome False False False -GARD:22145 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome False False False -GARD:22146 LAMA5-related multisystemic syndrome False False False -GARD:22147 Primary autoimmune enteropathy False False False -GARD:22148 Syndromic autoimmune enteropathy False False False -GARD:22149 Rare genetic disorder of the visual organs False False False -GARD:22150 Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature False False False -GARD:22151 Rare genetic ophthalmic disorder with cortical involvement False False False -GARD:22152 Rare genetic ophthalmic disorder with cranial nerve involvement False False False -GARD:22153 Rare genetic optic nerve disorder False False False -GARD:22154 Congenital optic disc excavation of genetic origin False False False -GARD:22155 Rare genetic ocular motility/alignment disorder False False False -GARD:22156 Rare genetic disorder with strabismus False False False -GARD:22157 Syndromic genetic disorder with strabismus False False False -GARD:22158 Rare genetic neuromuscular disorder with ocular motility/alignment anomaly False False False -GARD:22159 Rare genetic disorder of the ocular adnexa False False False -GARD:2216 Eyebrow duplication-syndactyly syndrome False False False -GARD:22160 Rare genetic palpebral disorder False False False -GARD:22161 Rare genetic eyelid malposition disorder False False False -GARD:22162 Rare genetic disorder with entropion False False False -GARD:22163 Rare genetic disorder of the lacrimal apparatus False False False -GARD:22164 Lacrimal drainage system anomaly of genetic origin False False False -GARD:22165 Structural developmental eye defect of genetic origin False False False -GARD:22166 Rare genetic disorder of the anterior segment of the eye False False False -GARD:22167 Anterior segment developmental anomaly of genetic origin False False False -GARD:22168 Rare genetic disorder with conjunctival involvement as a major feature False False False -GARD:22169 Rare genetic disorder with lens opacification False False False -GARD:22170 Syndromic genetic cataract False False False -GARD:22171 Lens size anomaly of genetic origin False False False -GARD:22172 Lens position anomaly of genetic origin False False False -GARD:22173 Syndromic genetic ectopia lentis False False False -GARD:22174 Rare genetic corneal disorder False False False -GARD:22175 Rare genetic disorder with corneal involvement as a major feature False False False -GARD:22176 Genetic corneal dystrophy False False False -GARD:22177 Genetic superficial corneal dystrophy False False False -GARD:22178 Syndromic genetic keratoconus False False False -GARD:22179 Rare genetic inflammatory/autoimmune corneal disorder False False False -GARD:22180 Rare genetic disorder of the pupil False False False -GARD:22181 Rare genetic disorder of the posterior segment of the eye False False False -GARD:22182 Rare genetic retinal disorder False False False -GARD:22183 Rare genetic macular disorder False False False -GARD:22184 Rare genetic retinal vasculopathy False False False -GARD:22185 Rare genetic disorder involving multiple structures of the eye False False False -GARD:22186 Secondary early-onset glaucoma of genetic origin False False False -GARD:22187 Rare genetic choroidal disorder False False False -GARD:22188 Pediatric-onset glaucoma False False False -GARD:22189 Genetic congenital malformation of the eye with glaucoma as a major feature False False False -GARD:22190 Pediatric-onset Graves disease False False False -GARD:22191 Prepubertal anorexia nervosa False False False -GARD:22192 Encephalopathy due to mitochondrial and peroxisomal fission defect False False False -GARD:22193 Diaphragmatic hernia-short bowel-asplenia syndrome False False False -GARD:22194 Hereditary angioedema with C1Inh deficiency False False False -GARD:22195 Hereditary angioedema with normal C1Inh False False False -GARD:22196 Acquired angioedema with C1Inh deficiency False False False -GARD:22197 Acute bilirubin encephalopathy False False False -GARD:22198 Chronic bilirubin encephalopathy False False False -GARD:22199 Letrozole toxicity False False False -GARD:22200 Combined hepatocellular carcinoma and cholangiocarcinoma False False False -GARD:22201 Secondary erythromelalgia False False False -GARD:22202 17q24.2 microdeletion syndrome False False False -GARD:22203 Immune dysregulation with inflammatory bowel disease False False False -GARD:22204 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome False False False -GARD:22205 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome False False False -GARD:22206 Dermoid or epidermoid cyst of the central nervous system False False False -GARD:22207 Progressive myoclonic epilepsy with neuroserpin inclusion bodies False False False -GARD:22208 Progressive dementia with neuroserpin inclusion bodies False False False -GARD:22209 PIK3CA-related overgrowth syndrome False False False -GARD:2221 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome False False False -GARD:22210 RELA fusion-positive ependymoma False False False -GARD:22211 Lamb-Shaffer syndrome False False False -GARD:22212 9q21.13 microdeletion syndrome False False False -GARD:22213 RASopathy False False False -GARD:22214 Spondylodysplastic Ehlers-Danlos syndrome False False False -GARD:22215 Myopathic Ehlers-Danlos syndrome False False False -GARD:22216 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency False False False -GARD:22217 PLG-related hereditary angioedema with normal C1Inh False False False -GARD:22218 Congenital axonal neuropathy with encephalopathy False False False -GARD:22219 Neurological channelopathy of the central nervous system due to a genetic chloride channel defect False False False -GARD:2222 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome False False False -GARD:22220 Classic pyoderma gangrenosum False False False -GARD:22221 Pustular pyoderma gangrenosum False False False -GARD:22222 Bullous pyoderma gangrenosum False False False -GARD:22223 Vegetative pyoderma gangrenosum False False False -GARD:22224 Anomalous aortic origin of the left coronary artery False False False -GARD:22225 Anomalous aortic origin of the right coronary artery False False False -GARD:22226 Anomalous aortic origin of coronary artery False False False -GARD:22227 Anomalous origin of coronary artery from the pulmonary artery False False False -GARD:22228 CAR T cell therapy-associated cytokine release syndrome False False False -GARD:22229 Quadricuspid aortic valve False False False -GARD:22230 Anomaly of the coronary ostia False False False -GARD:22231 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome False False False -GARD:22232 SYNGAP1-related developmental and epileptic encephalopathy False False False -GARD:22233 Hemolytic uremic syndrome False False False -GARD:22234 Infection-related hemolytic uremic syndrome False False False -GARD:22235 Streptococcus pneumoniae-associated hemolytic uremic syndrome False False False -GARD:22236 Congenital primary megaureter, refluxing and obstructed form False False False -GARD:22237 Collagen-related glomerular basement membrane disease False False False -GARD:22238 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome False False False -GARD:22239 Fibrohistiocytic inflammatory pseudotumor of the liver False False False -GARD:22240 Lymphoplasmacytic inflammatory pseudotumor of the liver False False False -GARD:22241 Congenital tricuspid valve dysplasia False False False -GARD:22242 IgA pemphigus False False False -GARD:22243 Early-onset familial hypoaldosteronism False False False -GARD:22244 Late-onset familial hypoaldosteronism False False False -GARD:22245 Rare disorder due to poisoning False False False -GARD:22246 Early-onset calcifying leukoencephalopathy-skeletal dysplasia False False False -GARD:22247 Spastic ataxia-dysarthria due to glutaminase deficiency False False False -GARD:22248 Rare disorder with Hirschsprung disease as a major feature False False False -GARD:22249 Idiopathic gastroparesis False False False -GARD:22250 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome False False False -GARD:22251 Autoimmune hepatitis type 1 False False False -GARD:22252 Autoimmune hepatitis type 2 False False False -GARD:22253 Seronegative autoimmune hepatitis False False False -GARD:22254 Isolated anencephaly False False False -GARD:22255 Isolated exencephaly False False False -GARD:22256 Serous cystadenoma of childhood False False False -GARD:22257 Mucinous cystadenoma of childhood False False False -GARD:22258 Seromucinous cystadenoma of childhood False False False -GARD:22259 Furuncular myiasis due to Dermatobia hominis False False False -GARD:22260 Furuncular myiasis due to Cordylobia anthropophaga False False False -GARD:22261 Furuncular myiasis due to Cordylobia rodhaini False False False -GARD:22262 Syndromic congenital sodium diarrhea False False False -GARD:22263 Isolated congenital aglossia False False False -GARD:22264 Isolated congenital hypoglossia False False False -GARD:22265 Genetic nephrotic syndrome False False False -GARD:22266 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome False False False -GARD:22267 Triglyceride deposit cardiomyovasculopathy False False False -GARD:22268 Primary desmosis coli False False False -GARD:22269 Methotrexate toxicity False False False -GARD:22270 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 False False False -GARD:22271 POMGNT2-related limb-girdle muscular dystrophy R24 False False False -GARD:22272 Calpain-3-related limb-girdle muscular dystrophy D4 False False False -GARD:22273 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome False False False -GARD:22274 Congenital autosomal recessive small-platelet thrombocytopenia False False False -GARD:22275 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha False False False -GARD:22276 Acute mast cell leukemia False False False -GARD:22277 Chronic mast cell leukemia False False False -GARD:22278 Liver adenomatosis False False False -GARD:22279 Aprosencephaly/atelencephaly spectrum False False False -GARD:22280 Atelencephaly False False False -GARD:22281 Aprosencephaly False False False -GARD:22282 Left sided atrial isomerism False False False -GARD:22283 Mueller-Weiss syndrome False False False -GARD:22284 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome False False False -GARD:22285 Idiopathic non-lupus full-house nephropathy False False False -GARD:22286 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance False False False -GARD:22287 Idiopathic multidrug-resistant nephrotic syndrome False False False -GARD:22288 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy False False False -GARD:22289 Systemic disease with glomerulopathy as a major feature False False False -GARD:2229 Lethal faciocardiomelic dysplasia False False False -GARD:22290 Genetic systemic disease with glomerulopathy as a major feature False False False -GARD:22291 Non-genetic systemic disease with glomerulopathy as a major feature False False False -GARD:22292 Systemic vasculitis associated with glomerulopathy False False False -GARD:22293 Disorder with multisystemic involvement and glomerulopathy False False False -GARD:22294 Nephrotic syndrome without extrarenal manifestations False False False -GARD:22295 Parenteral nutrition-associated cholestasis False False False -GARD:22296 Primary lymphedema without systemic or visceral involvement False False False -GARD:22297 Primary lymphedema with systemic or visceral involvement False False False -GARD:22298 Disorder with multisystemic involvement and primary lymphedema False False False -GARD:22299 GJC2-related late-onset primary lymphedema False False False -GARD:223 Vestibular schwannoma False False False -GARD:2230 Faciocardiorenal syndrome False False False -GARD:22300 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome False False False -GARD:22301 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis False False False -GARD:22302 EPHB4-related lymphatic-related hydrops fetalis False False False -GARD:22303 Angiomatoid fibrous histiocytoma False False False -GARD:22304 Microcystic stromal tumor False False False -GARD:22305 Multiple mitochondrial dysfunctions syndrome type 5 False False False -GARD:22306 CELSR1-related late-onset primary lymphedema False False False -GARD:22307 Congenital primary lymphedema of Gordon False False False -GARD:22308 Bartter syndrome type 5 False False False -GARD:22309 Idiopathic multicentric Castleman disease False False False -GARD:22310 HHV-8-associated multicentric Castleman disease False False False -GARD:22311 Ricin poisoning False False False -GARD:22312 Blepharophimosis-ptosis-epicanthus inversus syndrome plus False False False -GARD:22313 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia False False False -GARD:22314 DONSON-related microcephaly-short stature-limb abnormalities spectrum False False False -GARD:22315 Pheochromocytoma-paraganglioma False False False -GARD:22316 Split cord malformation type II False False False -GARD:22317 Split cord malformation False False False -GARD:22318 Predisposition to severe viral infection due to IRF7 deficiency False False False -GARD:22319 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency False False False -GARD:22320 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy False False False -GARD:22321 Middle East respiratory syndrome False False False -GARD:22322 Complete atrioventricular septal defect without ventricular hypoplasia False False False -GARD:22323 Partial atrioventricular septal defect with ventricular hypoplasia False False False -GARD:22324 Partial atrioventricular septal defect without ventricular hypoplasia False False False -GARD:22325 Intermediate atrioventricular septal defect False False False -GARD:22326 SATB2-associated syndrome False False False -GARD:22327 Sporadic human prion disease False False False -GARD:22328 Acquired human prion disease False False False -GARD:22329 Iatrogenic Creutzfeldt-Jakob disease False False False -GARD:22330 Genetic hemolytic uremic syndrome False False False -GARD:22331 Intraductal tubulopapillary neoplasm of pancreas False False False -GARD:22332 Lethal brain and heart developmental defects False False False -GARD:22333 Congenital infiltrating lipomatosis of the face False False False -GARD:22334 Serine biosynthesis pathway deficiency, infantile/juvenile form False False False -GARD:22335 Neu-laxova syndrome due to phosphoserine aminotransferase deficiency False False False -GARD:22336 Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency False False False -GARD:22337 Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency False False False -GARD:22338 Isolated splenic vein thrombosis False False False -GARD:22339 Isolated mesenteric vein thrombosis False False False -GARD:22340 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) False False False -GARD:22341 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality False False False -GARD:22342 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) False False False -GARD:22343 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) False False False -GARD:22344 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) False False False -GARD:22345 B-lymphoblastic leukemia/lymphoma with hyperdiploidy False False False -GARD:22346 B-lymphoblastic leukemia/lymphoma with hypodiploidy False False False -GARD:22347 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) False False False -GARD:22348 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) False False False -GARD:22349 Sporadic fatal insomnia False False False -GARD:22350 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome False False False -GARD:22351 PUM1-associated developmental disability-ataxia-seizure syndrome False False False -GARD:22352 Spinocerebellar ataxia type 46 False False False -GARD:22353 Spinocerebellar ataxia type 45 False False False -GARD:22354 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) False False False -GARD:22355 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement False False False -GARD:22356 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder False False False -GARD:22357 Mixed phenotype acute leukemia with t(v;11q23.3) False False False -GARD:22358 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies False False False -GARD:22359 Dystonia 28 False False False -GARD:22360 Inherited gynecological cancer-predisposing syndrome False False False -GARD:22361 Congenital-onset Steinert myotonic dystrophy False False False -GARD:22362 Childhood-onset Steinert myotonic dystrophy False False False -GARD:22363 Juvenile-onset Steinert myotonic dystrophy False False False -GARD:22364 Adult-onset Steinert myotonic dystrophy False False False -GARD:22365 Late-onset Steinert myotonic dystrophy False False False -GARD:22366 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome False False False -GARD:22367 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome False False False -GARD:22368 Isolated melanotic schwannoma False False False -GARD:22369 GNAO1-related developmental delay-seizures-movement disorder spectrum False False False -GARD:2237 Congenital factor V deficiency False False False -GARD:22370 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome False False False -GARD:22371 Menke-Hennekam syndrome False False False -GARD:22372 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies False False False -GARD:22373 Neuromyelitis optica spectrum disorder with anti-MOG antibodies False False False -GARD:22374 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies False False False -GARD:22375 Acute transverse myelitis with anti-MOG antibodies False False False -GARD:22376 Isolated optic neuritis without anti-MOG antibodies False False False -GARD:22377 Isolated optic neuritis with anti-MOG antibodies False False False -GARD:22378 Acute disseminated encephalomyelitis with anti-MOG antibodies False False False -GARD:22379 Acute disseminated encephalomyelitis without anti-MOG antibodies False False False -GARD:2238 Congenital factor VII deficiency False False False -GARD:22380 Timothy syndrome type 1 False False False -GARD:22381 Timothy syndrome type 2 False False False -GARD:22382 Atypical Timothy syndrome False False False -GARD:22383 Perivascular epithelioid cell neoplasm False False False -GARD:22384 Fibrous dysplasia/McCune-Albright syndrome False False False -GARD:22385 Adrenal hypoplasia congenita False False False -GARD:22386 Epidermolysis bullosa simplex without extracutaneous involvement False False False -GARD:22387 Epidermolysis bullosa simplex with extracutaneous involvement False False False -GARD:22388 Localized dystrophic epidermolysis bullosa False False False -GARD:22389 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis False False False -GARD:22390 Syndrome of reduced sensitivity to thyroid hormone False False False -GARD:22391 IgG4-related systemic disease False False False -GARD:22392 Combined immunodeficiency due to RELA haploinsufficiency False False False -GARD:22393 Portosinusoidal vascular disease False False False -GARD:22394 Incomplete septal cirrhosis False False False -GARD:22395 TRIM22-related inflammatory bowel disease False False False -GARD:22396 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome False False False -GARD:22397 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome False False False -GARD:22398 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome False False False -GARD:22399 KAT6B-related multiple congenital anomalies syndrome False False False -GARD:224 Radio-renal syndrome False False False -GARD:22400 ALPI-related inflammatory bowel disease False False False -GARD:22401 Euthyroid dysprealbuminemic hyperthyroxinemia False False False -GARD:22402 FOXG1 syndrome due to intragenic alteration False False False -GARD:22403 Multisystem inflammatory syndrome in children and adults False False False -GARD:22404 STXBP1-related encephalopathy False False False -GARD:22405 Hypomyelination of early myelinating structures False False False -GARD:22406 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant False False False -GARD:22407 Acquired hemophilia B False False False -GARD:22408 Acquired factor V deficiency False False False -GARD:22409 Acquired factor VII deficiency False False False -GARD:22410 Acquired factor X deficiency False False False -GARD:22411 Acquired factor XI deficiency False False False -GARD:22412 Acquired factor XIII deficiency False False False -GARD:22413 Factor V short isoforms-related bleeding disorder False False False -GARD:22414 Factor V Amsterdam bleeding disorder False False False -GARD:22415 Factor V Atlanta bleeding disorder False False False -GARD:22416 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance False False False -GARD:22417 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome False False False -GARD:22418 Combined deficiency of factor VII and factor X False False False -GARD:22419 Legionellosis False False False -GARD:22420 Non-syndromic anorectal malformation with perineal fistula False False False -GARD:22421 Non-syndromic anorectal malformation with rectourethral fistula False False False -GARD:22422 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type False False False -GARD:22423 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type False False False -GARD:22424 Non-syndromic anorectal malformation with rectovesical fistula False False False -GARD:22425 Non-syndromic anorectal malformation with vestibular fistula False False False -GARD:22426 Non-syndromic cloacal malformation False False False -GARD:22427 Non-syndromic anorectal malformation without fistula False False False -GARD:22428 Non-syndromic anorectal malformation with anal stenosis False False False -GARD:22429 Non-syndromic anorectal malformation with pouch colon False False False -GARD:22430 Non-syndromic anorectal malformation with rectal atresia False False False -GARD:22431 Non-syndromic anorectal malformation with rectal stenosis False False False -GARD:22432 Non-syndromic anorectal malformation with rectovaginal fistula False False False -GARD:22433 Non-syndromic anorectal malformation with H-type fistula False False False -GARD:22434 Isolated female hypospadias False False False -GARD:22435 KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome False False False -GARD:22436 KLHL7-related Bohring-Opitz-like syndrome False False False -GARD:22437 KLHL7-related cold-induced sweating-like syndrome False False False -GARD:22438 KLHL7-related disorder False False False -GARD:22439 Symptomatic form of X-linked centronuclear myopathy in female carriers False False False -GARD:22440 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome False False False -GARD:22441 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability False False False -GARD:22442 Granuloma faciale False False False -GARD:22443 Chronic intervillositis of unknown etiology False False False -GARD:22444 Rare disorder without a determined diagnosis after full investigation False False False -GARD:22445 Twin anemia-polycythemia sequence False False False -GARD:22446 Twin-reversed arterial perfusion sequence False False False -GARD:22447 Selective intrauterine growth restriction False False False -GARD:22448 Amniotic fluid embolism False False False -GARD:22449 Rare disorder related to monochorionic twin pregnancy False False False -GARD:2245 Tetralogy of Fallot False False False -GARD:22450 Rare disorder due to unbalanced inter-twin blood transfusion False False False -GARD:22451 Rare disorder due to inadequate sharing of the placenta False False False -GARD:22452 Classic eosinophilic pustular folliculitis False False False -GARD:22453 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome False False False -GARD:22454 F12-associated cold autoinflammatory syndrome False False False -GARD:22455 Hemophilia B Leyden False False False -GARD:22456 Chronic neurovisceral acid sphingomyelinase deficiency False False False -GARD:22457 Acid sphingomyelinase deficiency False False False -GARD:22458 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome False False False -GARD:22459 Rare hereditary connective tissue disease False False False -GARD:22460 Narcolepsy False False False -GARD:22461 Inherited hematologic cancer-predisposing syndrome False False False -GARD:22462 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 False False False -GARD:22463 SAMD9L-associated autoinflammatory syndrome False False False -GARD:22464 Immune deficiency due to impaired neutrophil phagocytosis and migration False False False -GARD:22465 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome False False False -GARD:22466 Familial hyperinflammatory lymphoproliferative immunodeficiency False False False -GARD:22467 CADINS disease False False False -GARD:22468 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome False False False -GARD:22469 Non-syndromic unisutural craniosynostosis False False False -GARD:22470 Non-syndromic unicoronal craniosynostosis False False False -GARD:22471 Non-syndromic unilambdoid craniosynostosis False False False -GARD:22472 Non-syndromic unifrontosphenoidal craniosynostosis False False False -GARD:22473 Non-syndromic unisquamosal craniosynostosis False False False -GARD:22474 Non-syndromic multisutural craniosynostosis False False False -GARD:22475 Non-syndromic non-specific multisutural craniosynostosis False False False -GARD:22476 Non-syndromic bilambdoid craniosynostosis False False False -GARD:22477 Non-syndromic unicoronal and sagittal craniosynostosis False False False -GARD:22478 Non-syndromic metopic and sagittal craniosynostosis False False False -GARD:22479 Non-syndromic bicoronal and metopic craniosynostosis False False False -GARD:22480 Non-syndromic bicoronal and sagittal craniosynostosis False False False -GARD:22481 Non-syndromic pansynostosis False False False -GARD:22482 Bartter syndrome type 1 False False False -GARD:22483 Bartter syndrome type 2 False False False -GARD:22484 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome False False False -GARD:22485 EGF-related primary hypomagnesemia with intellectual disability False False False -GARD:22486 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation False False False -GARD:22487 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome False False False -GARD:22488 Genetic autoinflammatory syndrome with skin involvement False False False -GARD:22489 Rare genetic nevus False False False -GARD:2249 Familial thoracic aortic aneurysm and aortic dissection False False False -GARD:22490 X-linked severe syndromic thoracic aortic aneurysm and dissection False False False -GARD:22491 SBDS-related severe neonatal spondylometaphyseal dysplasia False False False -GARD:22492 Autoimmune limbic encephalitis False False False -GARD:22493 Paraneoplastic cerebellar degeneration False False False -GARD:22494 Immune-mediated cerebellar ataxia False False False -GARD:22495 MIR140-related spondyloepiphyseal dysplasia False False False -GARD:22496 Body integrity dysphoria False False False -GARD:22497 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies False False False -GARD:22498 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies False False False -GARD:22499 Paraneoplastic isolated brainstem encephalitis False False False -GARD:225 Radial hemimelia False False False -GARD:2250 Band heterotopia False False False -GARD:22500 Non-specific autoimmune brainstem encephalitis with characteristic antibodies False False False -GARD:22501 Non-specific autoimmune brainstem encephalitis without characteristic antibodies False False False -GARD:22502 Postinfectious cerebellitis False False False -GARD:22503 Non-specific autoimmune cerebellar ataxia with characteristic antibodies False False False -GARD:22504 Non-specific autoimmune cerebellar ataxia without characteristic antibodies False False False -GARD:22505 Rare teratologic disease False False False -GARD:22506 Rare hepatic disease False False False -GARD:22507 Rare maxillo-facial surgical disease False False False -GARD:22508 Rare inborn errors of metabolism False False False -GARD:22509 Rare infectious disease False False False -GARD:22510 Rare skin disease False False False -GARD:22511 Rare bone disease False False False -GARD:22512 Rare renal disease False False False -GARD:22513 Rare developmental defect during embryogenesis False False False -GARD:22514 Rare gynecologic or obstetric disease False False False -GARD:22515 Rare cardiac disease False False False -GARD:22516 Rare gastroenterologic disease False False False -GARD:22517 Rare respiratory disease False False False -GARD:22518 Rare surgical thoracic disease False False False -GARD:22519 Rare surgical cardiac disease False False False -GARD:2252 Non-acquired combined pituitary hormone deficiency False False False -GARD:22520 Rare ophthalmic disorder False False False -GARD:22521 Rare endocrine disease False False False -GARD:22522 Rare hematologic disease False False False -GARD:22523 Rare immune disease False False False -GARD:22524 Rare neurologic disease False False False -GARD:22525 Rare systemic or rheumatologic disease False False False -GARD:22526 Rare odontologic disease False False False -GARD:22527 Rare circulatory system disease False False False -GARD:22528 Rare otorhinolaryngologic disease False False False -GARD:22529 Rare infertility False False False -GARD:22530 Rare allergic disease False False False -GARD:22531 Rare genetic disease False False False -GARD:22532 Rare urogenital disease False False False -GARD:22533 Rare disorder due to toxic effects False False False -GARD:22534 Rare abdominal surgical disease False False False -GARD:22535 Rare neoplastic disease False False False -GARD:22536 Rare disorder potentially indicated for transplant or complication after transplantation False False False -GARD:22537 Intellectual developmental disorder, autosomal recessive 1 False False False -GARD:22538 Intellectual developmental disorder, autosomal recessive 2 False False False -GARD:22539 Intellectual developmental disorder, autosomal recessive 3 False False False -GARD:2254 Familial nasal acilia False False False -GARD:22540 Intellectual developmental disorder, autosomal recessive 12 False False False -GARD:22541 Intellectual developmental disorder, autosomal recessive 5 False False False -GARD:22542 Intellectual developmental disorder, autosomal recessive 6 False False False -GARD:22543 Intellectual developmental disorder, autosomal recessive 7 False False False -GARD:22544 Intellectual developmental disorder, autosomal recessive 9 False False False -GARD:22545 Intellectual developmental disorder, autosomal recessive 10 False False False -GARD:22546 Intellectual developmental disorder, autosomal recessive 11 False False False -GARD:22547 Intellectual developmental disorder, autosomal recessive 4 False False False -GARD:22548 Intellectual developmental disorder, autosomal recessive 13 False False False -GARD:22549 Intellectual developmental disorder, autosomal recessive 14 False False False -GARD:22550 Rafiq syndrome False False False -GARD:22551 Intellectual developmental disorder, autosomal recessive 16 False False False -GARD:22552 Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy False False False -GARD:22553 Intellectual developmental disorder, autosomal recessive 31 False False False -GARD:22554 Intellectual developmental disorder, autosomal recessive 29 False False False -GARD:22555 Intellectual developmental disorder, autosomal recessive 27 False False False -GARD:22556 Intellectual developmental disorder, autosomal recessive 33 False False False -GARD:22557 Intellectual developmental disorder, autosomal recessive 30 False False False -GARD:22558 Intellectual developmental disorder, autosomal recessive 19 False False False -GARD:22559 Intellectual developmental disorder, autosomal recessive 23 False False False -GARD:2256 Polydactyly of an index finger False False False -GARD:22560 Intellectual developmental disorder, autosomal recessive 24 False False False -GARD:22561 Intellectual developmental disorder, autosomal recessive 25 False False False -GARD:22562 Intellectual developmental disorder, autosomal recessive 28 False False False -GARD:22563 Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly False False False -GARD:22564 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities False False False -GARD:22565 Intellectual developmental disorder, autosomal recessive 43 False False False -GARD:22566 Intellectual developmental disorder, autosomal recessive 44 False False False -GARD:22567 Intellectual developmental disorder, autosomal recessive 45 False False False -GARD:22568 Intellectual developmental disorder, autosomal recessive 46 False False False -GARD:22569 Intellectual developmental disorder, autosomal recessive 47 False False False -GARD:2257 Autosomal dominant epilepsy with auditory features False False False -GARD:22570 Intellectual developmental disorder, autosomal recessive 50 False False False -GARD:22571 Intellectual developmental disorder, autosomal recessive 51 False False False -GARD:22572 Intellectual developmental disorder, autosomal recessive 52 False False False -GARD:22573 Intellectual developmental disorder, autosomal recessive 54 False False False -GARD:22574 Intellectual developmental disorder, autosomal recessive 56 False False False -GARD:22575 Intellectual developmental disorder, autosomal recessive 57 False False False -GARD:22576 Neurodevelopmental disorder with microcephaly, ataxia, and seizures False False False -GARD:22577 Glycosylphosphatidylinositol biosynthesis defect 16 False False False -GARD:22578 Intellectual developmental disorder, autosomal recessive 65 False False False -GARD:22579 Intellectual developmental disorder, autosomal recessive 66 False False False -GARD:2258 Familial porencephaly False False False -GARD:22580 Intellectual developmental disorder, autosomal recessive 70 False False False -GARD:22581 Intellectual developmental disorder with short stature and behavioral abnormalities False False False -GARD:22582 Deafness, autosomal recessive 2 False False False -GARD:22583 Deafness, autosomal recessive 3 False False False -GARD:22584 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct False False False -GARD:22585 Deafness, autosomal recessive 5 False False False -GARD:22586 Deafness, autosomal recessive 6 False False False -GARD:22587 Deafness, autosomal recessive 7 False False False -GARD:22588 Deafness, autosomal recessive 9 False False False -GARD:22589 Deafness, autosomal recessive 8 False False False -GARD:2259 Familial supernumerary nipples False False False -GARD:22590 Deafness, autosomal recessive 12 False False False -GARD:22591 Deafness, autosomal recessive 15 False False False -GARD:22592 Deafness, autosomal recessive 18a False False False -GARD:22593 Deafness, autosomal recessive 17 False False False -GARD:22594 Deafness, autosomal recessive 13 False False False -GARD:22595 Deafness, autosomal recessive 21 False False False -GARD:22596 Deafness, autosomal recessive 14 False False False -GARD:22597 Deafness, autosomal recessive 16 False False False -GARD:22598 Deafness, autosomal recessive 20 False False False -GARD:22599 Deafness, autosomal recessive 26 False False False -GARD:226 Rabson-Mendenhall syndrome False False False -GARD:22600 Deafness, autosomal recessive 27 False False False -GARD:22601 Deafness, autosomal recessive 22 False False False -GARD:22602 Deafness, autosomal recessive 31 False False False -GARD:22603 Deafness, autosomal recessive 30 False False False -GARD:22604 Deafness, autosomal recessive 33 False False False -GARD:22605 Deafness, autosomal recessive 37 False False False -GARD:22606 Deafness, autosomal recessive 38 False False False -GARD:22607 Deafness, autosomal recessive 40 False False False -GARD:22608 Deafness, autosomal recessive 39 False False False -GARD:22609 Deafness, autosomal recessive 35 False False False -GARD:22610 Deafness, autosomal recessive 32, with or without immotile sperm False False False -GARD:22611 Deafness, autosomal recessive 36, with or without vestibular involvement False False False -GARD:22612 Deafness, autosomal recessive 48 False False False -GARD:22613 Deafness, autosomal recessive 23 False False False -GARD:22614 Deafness, autosomal recessive 42 False False False -GARD:22615 Deafness, autosomal recessive 46 False False False -GARD:22616 Deafness, autosomal recessive 53 False False False -GARD:22617 Deafness, autosomal recessive 28 False False False -GARD:22618 Deafness, autosomal recessive 62 False False False -GARD:22619 Deafness, autosomal recessive 49 False False False -GARD:22620 Deafness, autosomal recessive 44 False False False -GARD:22621 Deafness, autosomal recessive 66 False False False -GARD:22622 Deafness, autosomal recessive 59 False False False -GARD:22623 Deafness, autosomal recessive 65 False False False -GARD:22624 Deafness, autosomal recessive 67 False False False -GARD:22625 Deafness, autosomal recessive 68 False False False -GARD:22626 Deafness, autosomal recessive 24 False False False -GARD:22627 Deafness, autosomal recessive 63 False False False -GARD:22628 Deafness, autosomal recessive 45 False False False -GARD:22629 Deafness, autosomal recessive 1b False False False -GARD:22630 Deafness, autosomal recessive 71 False False False -GARD:22631 Deafness, autosomal recessive 77 False False False -GARD:22632 Deafness, autosomal recessive 25 False False False -GARD:22633 Deafness, autosomal recessive 79 False False False -GARD:22634 Deafness, autosomal recessive 84a False False False -GARD:22635 Deafness, autosomal recessive 85 False False False -GARD:22636 Deafness, autosomal recessive 91 False False False -GARD:22637 Deafness, autosomal recessive 83 False False False -GARD:22638 Deafness, autosomal recessive 74 False False False -GARD:22639 Deafness, autosomal recessive 61 False False False -GARD:22640 Deafness, autosomal recessive 89 False False False -GARD:22641 Deafness, autosomal recessive 29 False False False -GARD:22642 Deafness, autosomal recessive 96 False False False -GARD:22643 Deafness, autosomal recessive 86 False False False -GARD:22644 Deafness, autosomal recessive 98 False False False -GARD:22645 Deafness, autosomal recessive 93 False False False -GARD:22646 Deafness, autosomal recessive 70 False False False -GARD:22647 Deafness, autosomal recessive 84b False False False -GARD:22648 Deafness, autosomal recessive 18b False False False -GARD:22649 Deafness, autosomal recessive 88 False False False -GARD:22650 Deafness, autosomal recessive 76 False False False -GARD:22651 Deafness, autosomal recessive 101 False False False -GARD:22652 Deafness, autosomal recessive 102 False False False -GARD:22653 Deafness, autosomal recessive 103 False False False -GARD:22654 Deafness, autosomal recessive 104 False False False -GARD:22655 Deafness, autosomal recessive 97 False False False -GARD:22656 Deafness, autosomal recessive 106 False False False -GARD:22657 Deafness, autosomal recessive 107 False False False -GARD:22658 Deafness, autosomal recessive 108 False False False -GARD:22659 Deafness, autosomal recessive 111 False False False -GARD:22660 Deafness, autosomal recessive 100 False False False -GARD:22661 Deafness, autosomal recessive 94 False False False -GARD:22662 Deafness, autosomal recessive 114 False False False -GARD:22663 Deafness, autosomal recessive 99 False False False -GARD:22664 Deafness, autosomal recessive 116 False False False -GARD:22665 Deafness, autosomal recessive 117 False False False -GARD:22666 Intellectual developmental disorder, x-linked 23 False False False -GARD:22667 Intellectual developmental disorder, x-linked 20 False False False -GARD:22668 Intellectual developmental disorder, x-linked 50 False False False -GARD:22669 Intellectual developmental disorder, x-linked 21 False False False -GARD:22670 Intellectual developmental disorder, x-linked 58 False False False -GARD:22671 Intellectual developmental disorder, x-linked 72 False False False -GARD:22672 Intellectual developmental disorder, x-linked 53 False False False -GARD:22673 Intellectual developmental disorder, x-linked 73 False False False -GARD:22674 Intellectual developmental disorder, x-linked 42 False False False -GARD:22675 Intellectual developmental disorder, x-linked 2 False False False -GARD:22676 Intellectual developmental disorder, x-linked 81 False False False -GARD:22677 Intellectual developmental disorder, x-linked 46 False False False -GARD:22678 Intellectual developmental disorder, x-linked 77 False False False -GARD:22679 Intellectual developmental disorder, x-linked 45 False False False -GARD:2268 Fanconi-Bickel syndrome False False False -GARD:22680 Intellectual developmental disorder, x-linked 84 False False False -GARD:22681 Mental retardation, x-linked 82 False False False -GARD:22682 Intellectual developmental disorder, x-linked 30 False False False -GARD:22683 Chromosome xp11.22 duplication syndrome False False False -GARD:22684 Intellectual developmental disorder, x-linked 95 False False False -GARD:22685 Intellectual developmental disorder, x-linked 96 False False False -GARD:22686 Intellectual developmental disorder, x-linked 97 False False False -GARD:22687 Intellectual developmental disorder, x-linked 19 False False False -GARD:22688 Mental retardation, x-linked 89 False False False -GARD:22689 Intellectual developmental disorder, x-linked 41 False False False -GARD:22690 Intellectual developmental disorder, x-linked 90 False False False -GARD:22691 Mental retardation, x-linked 92 False False False -GARD:22692 Mental retardation, x-linked 88 False False False -GARD:22693 Intellectual developmental disorder, x-linked 99 False False False -GARD:22694 Intellectual developmental disorder, x-linked 101 False False False -GARD:22695 Tonne-kalscheuer syndrome False False False -GARD:22696 Intellectual developmental disorder, x-linked 104 False False False -GARD:22697 Intellectual developmental disorder, x-linked 105 False False False -GARD:22698 Intellectual developmental disorder, x-linked 107 False False False -GARD:22699 Intellectual developmental disorder, x-linked 1 False False False -GARD:22700 Intellectual developmental disorder, x-linked 9 False False False -GARD:2276 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome False False False -GARD:2279 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome False False False -GARD:2285 Gollop-Wolfgang complex False False False -GARD:2286 Femur-fibula-ulna complex False False False -GARD:2287 Ataxia-photosensitivity-short stature syndrome False False False -GARD:229 Gómez-López-Hernández syndrome False False False -GARD:2293 Fetal akinesia syndrome, x-linked False False False -GARD:2294 Aminopterin/methotrexate embryofetopathy False False False -GARD:2295 Fetal and neonatal alloimmune thrombocytopenia False False False -GARD:23 Blepharophimosis-ptosis-epicanthus inversus syndrome False False False -GARD:230 Microcephaly-deafness-intellectual disability syndrome False False False -GARD:2303 Indomethacin embryofetopathy False False False -GARD:2304 Fetal iodine syndrome False False False -GARD:2305 Congenital left ventricular aneurysm False False False -GARD:2308 Fetal minoxidil syndrome False False False -GARD:231 CACH syndrome False False False -GARD:2313 Thalidomide embryopathy False False False -GARD:2317 FG syndrome type 1 False False False -GARD:232 Medullary sponge kidney False False False -GARD:2320 Congenital fibrinogen deficiency False False False -GARD:2321 Fibrochondrogenesis False False False -GARD:2322 Birt-Hogg-Dubé syndrome False False False -GARD:2324 Gingival fibromatosis-hypertrichosis syndrome False False False -GARD:2327 Fibrosarcoma False False False -GARD:2331 Fibular aplasia-ectrodactyly syndrome False False False -GARD:2336 Absence of fingerprints-congenital milia syndrome False False False -GARD:2339 AGel amyloidosis False False False -GARD:234 D-glyceric aciduria False False False -GARD:2342 Spastic paraplegia-nephritis-deafness syndrome False False False -GARD:2344 Paraplegia-intellectual disability-hyperkeratosis syndrome False False False -GARD:2346 FLOTCH syndrome False False False -GARD:2347 Flynn-Aird syndrome False False False -GARD:2351 Foix-Chavany-Marie syndrome False False False -GARD:2356 Follicular lymphoma False False False -GARD:236 Hydrocephalus-blue sclerae-nephropathy syndrome False False False -GARD:2362 Cardiospondylocarpofacial syndrome False False False -GARD:2365 Fowler urethral sphincter dysfunction syndrome False False False -GARD:237 Dahlberg-Borer-Newcomer syndrome False False False -GARD:2375 Frasier syndrome False False False -GARD:2378 FRAXE intellectual disability False False False -GARD:238 Odontomatosis-aortae esophagus stenosis syndrome False False False -GARD:2380 Osteochondrosis of the metatarsal bone False False False -GARD:2381 Odontotrichomelic syndrome False False False -GARD:2384 14q22q23 microdeletion syndrome False False False -GARD:239 Say-Barber-Miller syndrome False False False -GARD:2390 Frontofacionasal dysplasia False False False -GARD:2392 Frontonasal dysplasia False False False -GARD:2397 Diaphragmatic defect-limb deficiency-skull defect syndrome False False False -GARD:2400 Fructose-1,6-bisphosphatase deficiency False False False -GARD:2408 Upper limb mesomelic dysplasia False False False -GARD:2409 Fryns-Smeets-Thiry syndrome False False False -GARD:241 Scalp defects-postaxial polydactyly syndrome False False False -GARD:2410 Fuhrmann syndrome False False False -GARD:2417 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome False False False -GARD:2418 Furuncular myiasis False False False -GARD:2419 Fused mandibular incisors False False False -GARD:2422 Galactokinase deficiency False False False -GARD:2424 Galactosemia False False False -GARD:2427 Growth delay-hydrocephaly-lung hypoplasia syndrome False False False -GARD:2428 Cystathioninuria False False False -GARD:2429 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 False False False -GARD:243 Trigonocephaly-short stature-developmental delay syndrome False False False -GARD:2430 Ganglioglioma False False False -GARD:2431 GM1 gangliosidosis type 3 False False False -GARD:2432 X-linked Alport syndrome-diffuse leiomyomatosis False False False -GARD:2436 Ménétrier disease False False False -GARD:2437 Gastroenteropancreatic neuroendocrine neoplasm False False False -GARD:2438 Gastrocutaneous syndrome False False False -GARD:2441 Gaucher disease type 1 False False False -GARD:2442 Gaucher disease type 2 False False False -GARD:2443 Gaucher disease type 3 False False False -GARD:2449 Geleophysic dysplasia False False False -GARD:2451 Gemignani syndrome False False False -GARD:2452 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome False False False -GARD:2454 Holoprosencephaly-craniosynostosis syndrome False False False -GARD:2456 Mycobacterium tuberculosis, susceptibility to False False False -GARD:246 Schisis association False False False -GARD:2460 Genitopalatocardiac syndrome False False False -GARD:2462 German syndrome False False False -GARD:2469 Large congenital melanocytic nevus False False False -GARD:247 SCARF syndrome False False False -GARD:2470 Bernard-Soulier syndrome False False False -GARD:2474 Fibromatosis, gingival, 2 False False False -GARD:2475 Fibromatosis, gingival, 4 False False False -GARD:2478 Glanzmann thrombasthenia False False False -GARD:248 Cataract-deafness-hypogonadism syndrome False False False -GARD:2483 Glaucoma-sleep apnea syndrome False False False -GARD:2485 Congenital glaucoma False False False -GARD:2486 Pediatric-onset glaucoma of genetic origin False False False -GARD:249 Craniodiaphyseal dysplasia, autosomal dominant False False False -GARD:2490 Glaucoma 3, primary infantile, b False False False -GARD:2491 Glioblastoma False False False -GARD:2492 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome False False False -GARD:2496 Glucagonoma False False False -GARD:2498 Familial glucocorticoid deficiency False False False -GARD:2499 Generalized glucocorticoid resistance syndrome False False False -GARD:250 Schwartz-Jampel syndrome False False False -GARD:2513 Glycogen storage disease due to hepatic glycogen synthase deficiency False False False -GARD:2515 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib False False False -GARD:2520 Glycogen storage disease due to glycogen branching enzyme deficiency False False False -GARD:2521 Sandhoff disease False False False -GARD:2523 GMS syndrome False False False -GARD:2541 XY type gonadal dysgenesis-associated anomalies syndrome False False False -GARD:2542 Perrault syndrome False False False -GARD:2546 Gonococcal conjunctivitis False False False -GARD:2549 Goodman syndrome False False False -GARD:2551 Anti-glomerular basement membrane disease False False False -GARD:2553 Gordon syndrome False False False -GARD:2557 Cystic hamartoma of lung and kidney False False False -GARD:2559 Grant syndrome False False False -GARD:2562 Gray platelet syndrome False False False -GARD:2566 Griscelli syndrome type 1 False False False -GARD:2568 Deafness-small bowel diverticulosis-neuropathy syndrome False False False -GARD:257 Intellectual disability-balding-patella luxation-acromicria syndrome False False False -GARD:2572 Myhre syndrome False False False -GARD:2576 Grubben-de Cock-Borghgraef syndrome False False False -GARD:2578 Guanidinoacetate methyltransferase deficiency False False False -GARD:2579 Osteopetrosis, autosomal recessive 1 False False False -GARD:258 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome False False False -GARD:2580 X-linked corneal dermoid False False False -GARD:2586 Hall-Riggs syndrome False False False -GARD:2589 Digital extensor muscle aplasia-polyneuropathy False False False -GARD:259 Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome False False False -GARD:2593 Emery-Nelson syndrome False False False -GARD:2594 Hand-foot-genital syndrome False False False -GARD:2597 Extensor tendons of finger anomalies False False False -GARD:2598 Parana hard skin syndrome False False False -GARD:2599 Walker-Warburg syndrome False False False -GARD:26 Cat-eye syndrome False False False -GARD:2600 Early-onset cerebellar ataxia with retained tendon reflexes False False False -GARD:2601 Harrod syndrome False False False -GARD:2605 Short stature-craniofacial anomalies-genital hypoplasia syndrome False False False -GARD:2610 Progressive familial heart block, type ib False False False -GARD:2613 Heart defects-limb shortening syndrome False False False -GARD:2614 Heart-hand syndrome type 3 False False False -GARD:262 NARP syndrome False False False -GARD:2620 HEC syndrome False False False -GARD:2621 Trismus-pseudocamptodactyly syndrome False False False -GARD:2622 FATCO syndrome False False False -GARD:2627 Hemangiopericytoma, malignant False False False -GARD:2630 Isolated hemihyperplasia False False False -GARD:2633 Bencze syndrome False False False -GARD:2637 Hemimegalencephaly False False False -GARD:2638 Migraine, familial hemiplegic, 1 False False False -GARD:264 Lowry-Wood syndrome False False False -GARD:2640 Hemoglobin C disease False False False -GARD:2641 Hemoglobin E disease False False False -GARD:2642 Lethal hemolytic anemia-genital anomalies syndrome False False False -GARD:265 Trichodental syndrome False False False -GARD:2650 Heparin-induced thrombocytopenia False False False -GARD:2651 Hepatic cystic hamartoma False False False -GARD:2657 Hepatoblastoma False False False -GARD:2658 Tyrosinemia type 1 False False False -GARD:2659 Hereditary methemoglobinemia False False False -GARD:267 Keipert syndrome False False False -GARD:2682 Hidrotic ectodermal dysplasia, Christianson-Fourie type False False False -GARD:2684 Congenital high-molecular-weight kininogen deficiency False False False -GARD:269 IVIC syndrome False False False -GARD:2690 Hip dysplasia, Beukes type False False False -GARD:2695 Hirschsprung disease-ganglioneuroblastoma syndrome False False False -GARD:27 Cat-scratch disease False False False -GARD:270 Nicolaides-Baraitser syndrome False False False -GARD:2700 Hirschsprung disease-type D brachydactyly syndrome False False False -GARD:2706 His bundle tachycardia False False False -GARD:2708 Histidinuria-renal tubular defect syndrome False False False -GARD:2712 3-hydroxy-3-methylglutaryl-CoA synthase deficiency False False False -GARD:2714 Hodgkin lymphoma False False False -GARD:272 VACTERL with hydrocephalus False False False -GARD:2721 Holocarboxylase synthetase deficiency False False False -GARD:2722 Holoprosencephaly-caudal dysgenesis syndrome False False False -GARD:2725 Hartsfield syndrome False False False -GARD:2727 Holoprosencephaly-radial heart renal anomalies syndrome False False False -GARD:2728 Holzgreve syndrome False False False -GARD:273 Wrinkly skin syndrome False False False -GARD:2734 Homocystinuria due to methylene tetrahydrofolate reductase deficiency False False False -GARD:274 X-linked immunoneurologic disorder False False False -GARD:2742 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome False False False -GARD:2748 Humero-radial synostosis False False False -GARD:2749 Humero-radio-ulnar synostosis False False False -GARD:2750 Humerus trochlea aplasia False False False -GARD:2754 Hunter-McAlpine syndrome False False False -GARD:2756 Trigonocephaly-broad thumbs syndrome False False False -GARD:276 Hypogonadotropic hypogonadism 12 with or without anosmia False False False -GARD:2764 Cystic echinococcosis False False False -GARD:2765 X-linked intellectual disability-plagiocephaly syndrome False False False -GARD:277 Pilodental dysplasia-refractive errors syndrome False False False -GARD:2775 Hydrocephalus-obesity-hypogonadism syndrome False False False -GARD:2783 Hydrops fetalis False False False -GARD:2787 Hymenolepiasis False False False -GARD:2788 Hyperimmunoglobulinemia D with periodic fever False False False -GARD:2789 Familial hyperaldosteronism type II False False False -GARD:2790 Familial hyperaldosteronism type I False False False -GARD:2791 Transient familial neonatal hyperbilirubinemia False False False -GARD:2793 Dubin-Johnson syndrome False False False -GARD:2796 Familial hypocalciuric hypercalcemia type 1 False False False -GARD:28 Catel-Manzke syndrome False False False -GARD:280 Hidrotic ectodermal dysplasia, Halal type False False False -GARD:2804 Hypereosinophilic syndrome False False False -GARD:2806 Hereditary hyperferritinemia-cataract syndrome False False False -GARD:2807 Isolated glycerol kinase deficiency False False False -GARD:2816 Combined immunodeficiency due to DOCK8 deficiency False False False -GARD:2818 Hyperinsulinism due to glucokinase deficiency False False False -GARD:282 Lethal osteosclerotic bone dysplasia False False False -GARD:2824 Hyperkeratosis lenticularis perstans False False False -GARD:2826 Epidermolytic palmoplantar keratoderma False False False -GARD:2828 Hyperlysinemia False False False -GARD:2830 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome False False False -GARD:2831 Juvenile Paget disease False False False -GARD:2833 Hyperostosis corticalis generalisata False False False -GARD:2835 Primary hyperoxaluria type 1 False False False -GARD:2836 Primary hyperoxaluria type 2 False False False -GARD:2837 Familial primary hyperparathyroidism False False False -GARD:2838 Neonatal severe primary hyperparathyroidism False False False -GARD:284 Lymphedema-atrial septal defects-facial changes syndrome False False False -GARD:2843 Pterin-4 alpha-carbinolamine dehydratase deficiency False False False -GARD:2844 GTP cyclohydrolase I deficiency False False False -GARD:2847 Hyperprolinemia type 1 False False False -GARD:2856 Maternal hyperthermia-induced birth defects False False False -GARD:2858 Familial hyperthyroidism due to mutations in TSH receptor False False False -GARD:2863 X-linked congenital generalized hypertrichosis False False False -GARD:2864 Acquired hypertrichosis lanuginosa False False False -GARD:2865 Hypertrichosis lanuginosa congenita False False False -GARD:287 Hypertelorism-hypospadias-polysyndactyly syndrome False False False -GARD:2871 Hypertryptophanemia False False False -GARD:2872 Apolipoprotein A-I deficiency False False False -GARD:2876 Hypobetalipoproteinemia, familial, 1 False False False -GARD:2877 Autosomal dominant hypocalcemia False False False -GARD:2878 Familial hypocalciuric hypercalcemia type 3 False False False -GARD:288 Hallermann-Streiff syndrome False False False -GARD:2882 Achondrogenesis False False False -GARD:2887 Familial hypofibrinogenemia False False False -GARD:2897 Hypogonadotropic hypogonadism 7 with or without anosmia False False False -GARD:29 CHARGE syndrome False False False -GARD:290 Hallermann-Streiff-like syndrome False False False -GARD:2905 Familial isolated dilated cardiomyopathy False False False -GARD:2906 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement False False False -GARD:2907 Hypomandibular faciocranial dysostosis False False False -GARD:2908 Müllerian duct anomalies-limb anomalies syndrome False False False -GARD:2910 Familial isolated hypoparathyroidism False False False -GARD:2911 Hypoparathyroidism-sensorineural deafness-renal disease syndrome False False False -GARD:2914 Hypoparathyroidism, x-linked False False False -GARD:292 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome False False False -GARD:2922 Hypoplastic right heart syndrome False False False -GARD:2926 Congenital factor II deficiency False False False -GARD:2928 Hypospadias-intellectual disability, Goldblatt type syndrome False False False -GARD:2930 Schilbach-Rott syndrome False False False -GARD:2943 Hypoxanthine-guanine phosphoribosyltransferase deficiency False False False -GARD:2945 ICF syndrome False False False -GARD:2946 Keratitis-ichthyosis-deafness syndrome, autosomal recessive False False False -GARD:2952 Ichthyosis follicularis-alopecia-photophobia syndrome False False False -GARD:2954 Ichthyosis hystrix of Curth-Macklin False False False -GARD:296 Short tarsus-absence of lower eyelashes syndrome False False False -GARD:2960 Ichthyosis-oral and digital anomalies syndrome False False False -GARD:2966 Superficial epidermolytic ichthyosis False False False -GARD:2978 Anterior segment dysgenesis 3 False False False -GARD:298 Hypergonadotropic hypogonadism-cataract syndrome False False False -GARD:2981 Ciliary dyskinesia with defective radial spokes False False False -GARD:2982 Ciliary dyskinesia with excessively long cilia False False False -GARD:2984 Immune deficiency, familial variable False False False -GARD:2988 Short-limb skeletal dysplasia with severe combined immunodeficiency False False False -GARD:2989 Imperforate oropharynx-costovertebral anomalies syndrome False False False -GARD:299 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome False False False -GARD:2995 Early-onset progressive encephalopathy with migrant continuous myoclonus False False False -GARD:2998 Infantile myofibromatosis False False False -GARD:3 Ablepharon macrostomia syndrome False False False -GARD:30000 Rare to-be-classified GARD Diseases False False False -GARD:3002 Infantile spasms-broad thumbs syndrome False False False -GARD:3006 Hereditary sensory and autonomic neuropathy type 4 False False False -GARD:3007 Mosaic variegated aneuploidy syndrome False False False -GARD:3008 Insulin-resistance syndrome type A False False False -GARD:3009 Insulin-resistance syndrome type B False False False -GARD:3010 Insulinoma False False False -GARD:3012 Internal carotid absence False False False -GARD:3013 Multiple intestinal atresia False False False -GARD:3017 Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked False False False -GARD:302 Kostmann syndrome False False False -GARD:3020 Cerebral arteriovenous malformation False False False -GARD:3024 Congenital intrinsic factor deficiency False False False -GARD:3026 Anterior segment dysgenesis 4 False False False -GARD:3030 Coxopodopatellar syndrome False False False -GARD:3033 Isosporiasis False False False -GARD:304 Blau syndrome False False False -GARD:3045 CLN2 disease False False False -GARD:3047 Spondylometaphyseal dysplasia, Kozlowski type False False False -GARD:3048 Jervell and Lange-Nielsen syndrome False False False -GARD:3049 Jeune syndrome False False False -GARD:305 Conductive deafness-ptosis-skeletal anomalies syndrome False False False -GARD:3051 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome False False False -GARD:3053 Arthrogryposis-hyperkeratosis syndrome, lethal form False False False -GARD:3054 Familial articular hypermobility syndrome False False False -GARD:3056 Gingival fibromatosis-progressive deafness syndrome False False False -GARD:306 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome False False False -GARD:3060 Juberg-Hayward syndrome False False False -GARD:3062 Jung syndrome False False False -GARD:3065 Juvenile polyposis syndrome False False False -GARD:3066 Hypotrichosis with juvenile macular degeneration False False False -GARD:3068 Juvenile temporal arteritis False False False -GARD:307 Jacobsen syndrome False False False -GARD:3070 Hypogonadotropic hypogonadism 2 with or without anosmia False False False -GARD:3071 Hypogonadotropic hypogonadism 1 with or without anosmia False False False -GARD:3073 Hypogonadotropic hypogonadism 3 with or without anosmia False False False -GARD:3074 Mesomelic dysplasia, Kantaputra type False False False -GARD:3075 Acrocraniofacial dysostosis False False False -GARD:3077 Kaposiform hemangioendothelioma False False False -GARD:3078 Kapur-Toriello syndrome False False False -GARD:3084 Oculocerebrofacial syndrome, Kaufman type False False False -GARD:3086 PAGOD syndrome False False False -GARD:3089 Autosomal dominant keratitis False False False -GARD:3090 Multiple self-healing squamous epithelioma False False False -GARD:3092 Keratoderma hereditarium mutilans False False False -GARD:3094 Palmoplantar keratoderma-deafness syndrome False False False -GARD:3095 Palmoplantar keratoderma-spastic paralysis syndrome False False False -GARD:3096 Transgrediens et progrediens palmoplantar keratoderma False False False -GARD:3098 Focal palmoplantar and gingival keratoderma False False False -GARD:3099 Keratosis follicularis-dwarfism-cerebral atrophy syndrome False False False -GARD:31 Serpiginous choroiditis False False False -GARD:310 CHIME syndrome False False False -GARD:3100 Papillon-Lefèvre syndrome False False False -GARD:3102 Palmoplantar keratoderma-esophageal carcinoma syndrome False False False -GARD:3103 Punctate palmoplantar keratoderma type 1 False False False -GARD:3105 Tyrosinemia type 2 False False False -GARD:3109 Kerion celsi False False False -GARD:3112 Anaplastic large cell lymphoma False False False -GARD:3113 KID syndrome False False False -GARD:3117 Kleine-Levin syndrome False False False -GARD:3118 Hallux varus-preaxial polysyndactyly syndrome False False False -GARD:312 Robinow syndrome False False False -GARD:3122 Angioosteohypertrophic syndrome False False False -GARD:3124 Lethal Kniest-like dysplasia False False False -GARD:3125 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome False False False -GARD:3126 Familial partial lipodystrophy, Dunnigan type False False False -GARD:3128 Amelocerebrohypohidrotic syndrome False False False -GARD:3129 Hereditary hyperekplexia False False False -GARD:314 Saccharopinuria False False False -GARD:3141 Intellectual disability-polydactyly-uncombable hair syndrome False False False -GARD:3150 Kuskokwim syndrome False False False -GARD:3159 Glycogen storage disease due to lactate dehydrogenase deficiency False False False -GARD:3160 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency False False False -GARD:3161 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency False False False -GARD:3163 Fatal infantile lactic acidosis with methylmalonic aciduria False False False -GARD:3169 Lambert syndrome False False False -GARD:3170 Ichthyosis, congenital, autosomal recessive 1 False False False -GARD:3178 Diffuse large B-cell lymphoma False False False -GARD:3181 Lethal Larsen-like syndrome False False False -GARD:3188 Laryngotracheoesophageal cleft False False False -GARD:319 Sacrococcygeal teratoma False False False -GARD:3191 Laryngocele False False False -GARD:3194 Larynx atresia False False False -GARD:3195 Graham Little-Piccardi-Lassueur syndrome False False False -GARD:3196 Retinal cone dystrophy 1 False False False -GARD:320 Fibulo-ulnar hypoplasia-renal anomalies syndrome False False False -GARD:3203 Early-onset parkinsonism-intellectual disability syndrome False False False -GARD:321 Nail-patella-like renal disease False False False -GARD:3212 Branchio-oculo-facial syndrome False False False -GARD:322 Senior-Loken syndrome False False False -GARD:3223 Lenz-Majewski hyperostotic dwarfism False False False -GARD:3224 Léri-Weill dyschondrosteosis False False False -GARD:3227 Lethal congenital contracture syndrome type 1 False False False -GARD:3228 Maple syrup urine disease False False False -GARD:3230 Metachromatic leukodystrophy False False False -GARD:3231 Ravine syndrome False False False -GARD:3232 Leukoencephalopathy-palmoplantar keratoderma syndrome False False False -GARD:3236 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome False False False -GARD:324 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome False False False -GARD:3242 Autosomal dominant popliteal pterygium syndrome False False False -GARD:3244 Leydig cell hypoplasia False False False -GARD:3247 Lichen planopilaris False False False -GARD:3248 Lichtenstein syndrome False False False -GARD:325 Twin to twin transfusion syndrome False False False -GARD:3251 Limb body wall complex False False False -GARD:3252 Distal limb deficiencies-micrognathia syndrome False False False -GARD:3259 Linear verrucous nevus syndrome False False False -GARD:3262 Neutral lipid storage disease False False False -GARD:3263 Pyruvate dehydrogenase E3 deficiency False False False -GARD:3268 Lipoid proteinosis False False False -GARD:3277 Cobblestone lissencephaly False False False -GARD:3283 Loiasis False False False -GARD:3284 Romano-Ward syndrome False False False -GARD:3285 Long qt syndrome 2 False False False -GARD:3286 Long qt syndrome 3 False False False -GARD:3287 Loose anagen syndrome False False False -GARD:329 Wells syndrome False False False -GARD:3295 Oculocerebrorenal syndrome of Lowe False False False -GARD:330 Wiedemann-Rautenstrauch syndrome False False False -GARD:3300 Lowry-MacLean syndrome False False False -GARD:3303 Cystic fibrosis-gastritis-megaloblastic anemia syndrome False False False -GARD:3307 Lujan-Fryns syndrome False False False -GARD:331 Yunis-Varon syndrome False False False -GARD:3314 Cerebellar ataxia-hypogonadism syndrome False False False -GARD:3318 Hennekam syndrome False False False -GARD:3319 Lymphangioleiomyomatosis False False False -GARD:332 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome False False False -GARD:3321 Lymphatic filariasis False False False -GARD:3324 Meige disease False False False -GARD:3328 Lymphatic malformation 1 False False False -GARD:333 Lymphedema-distichiasis syndrome False False False -GARD:3335 Lysinuric protein intolerance False False False -GARD:334 Dyschromatosis symmetrica hereditaria False False False -GARD:3342 Macroglossia False False False -GARD:3343 Beckwith-Wiedemann syndrome False False False -GARD:3347 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome False False False -GARD:3348 Blepharophimosis-intellectual disability syndrome, Ohdo type False False False -GARD:3350 Autosomal dominant primary hypomagnesemia with hypocalciuria False False False -GARD:336 Autosomal recessive spastic paraplegia type 23 False False False -GARD:3361 Multiple pterygium-malignant hyperthermia syndrome False False False -GARD:3363 Malignant hyperthermia, susceptibility to, 1 False False False -GARD:3364 Malignant hyperthermia, susceptibility to, 2 False False False -GARD:3365 Malignant hyperthermia, susceptibility to, 3 False False False -GARD:3366 Malignant hyperthermia, susceptibility to, 4 False False False -GARD:3367 Malignant hyperthermia, susceptibility to, 5 False False False -GARD:3368 Malignant hyperthermia, susceptibility to, 6 False False False -GARD:3371 Malonic aciduria False False False -GARD:3373 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome False False False -GARD:3374 Mandibuloacral dysplasia with type A lipodystrophy False False False -GARD:3378 Lung agenesis-heart defect-thumb anomalies syndrome False False False -GARD:3382 Van den Ende-Gupta syndrome False False False -GARD:3388 Marfanoid habitus-autosomal recessive intellectual disability syndrome False False False -GARD:3390 Marie Unna hereditary hypotrichosis False False False -GARD:3395 Oculotrichoanal syndrome False False False -GARD:3396 Osteocraniostenosis False False False -GARD:3399 Lethal recessive chondrodysplasia False False False -GARD:3401 Marfanoid syndrome, De Silva type False False False -GARD:3406 Cataract-intellectual disability-hypogonadism syndrome False False False -GARD:3409 Hennekam-Beemer syndrome False False False -GARD:341 Young syndrome False False False -GARD:3413 Maternal phenylketonuria False False False -GARD:3418 Maturity-onset diabetes of the young, type 1 False False False -GARD:3424 McDonough syndrome False False False -GARD:3426 Familial scaphocephaly syndrome, McGillivray type False False False -GARD:3427 McKusick-Kaufman syndrome False False False -GARD:343 Pontocerebellar hypoplasia type 4 False False False -GARD:3430 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome False False False -GARD:3432 Meacham syndrome False False False -GARD:3436 Meckel syndrome False False False -GARD:3438 Dysraphism-cleft lip/palate-limb reduction defects syndrome False False False -GARD:3439 Pai syndrome False False False -GARD:344 Holoprosencephaly-postaxial polydactyly syndrome False False False -GARD:3440 Median nodule of the upper lip False False False -GARD:3442 Megacystis-microcolon-intestinal hypoperistalsis syndrome False False False -GARD:3443 Familial visceral myopathy False False False -GARD:3445 Megalencephalic leukoencephalopathy with subcortical cysts False False False -GARD:3448 Megalocornea-intellectual disability syndrome False False False -GARD:3449 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome False False False -GARD:345 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome False False False -GARD:3451 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement False False False -GARD:346 Hoyeraal-Hreidarsson syndrome False False False -GARD:3460 Familial melanoma False False False -GARD:3462 Melhem-Fahl syndrome False False False -GARD:347 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome False False False -GARD:3475 Myelomeningocele False False False -GARD:348 Yolk sac tumor False False False -GARD:3480 Cerebrooculonasal syndrome False False False -GARD:3482 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome False False False -GARD:3485 Intellectual disability, Buenos-Aires type False False False -GARD:3491 Hernández-Aguirre Negrete syndrome False False False -GARD:35 Tetrasomy 18p False False False -GARD:350 Skeletal dysplasia-epilepsy-short stature syndrome False False False -GARD:3505 Severe intellectual disability-progressive spastic diplegia syndrome False False False -GARD:3506 X-linked intellectual disability-psychosis-macroorchidism syndrome False False False -GARD:351 Dacryocystitis-osteopoikilosis syndrome False False False -GARD:3514 Intellectual disability-short stature-hypertelorism syndrome False False False -GARD:3519 Metaphyseal acroscyphodysplasia False False False -GARD:3520 X-linked skeletal dysplasia-intellectual disability syndrome False False False -GARD:3521 Intellectual disability-hypotonic facies syndrome, x-linked, 1 False False False -GARD:3523 Intellectual disability-spasticity-ectrodactyly syndrome False False False -GARD:3524 Mietens syndrome False False False -GARD:3530 Intellectual disability, Wolff type False False False -GARD:3531 Monoamine oxidase A deficiency False False False -GARD:3537 Atkin-Flaitz syndrome False False False -GARD:354 Osteopenia-intellectual disability-sparse hair syndrome False False False -GARD:3552 Mesomelic dwarfism-cleft palate-camptodactyly syndrome False False False -GARD:3553 Langer mesomelic dysplasia False False False -GARD:3554 Mesomelic dysplasia, Nievergelt type False False False -GARD:3555 Mesomelic dwarfism, Reinhardt-Pfeiffer type False False False -GARD:3559 Syndactyly type 8 False False False -GARD:3560 Metachondromatosis False False False -GARD:3562 Metaphyseal anadysplasia False False False -GARD:3563 Metaphyseal chondrodysplasia, Spahr type False False False -GARD:3566 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome False False False -GARD:3568 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome False False False -GARD:3571 Metatropic dysplasia False False False -GARD:3573 Methimazole embryofetopathy False False False -GARD:3575 Fetal methylmercury syndrome False False False -GARD:3576 Methylcobalamin deficiency type cblE False False False -GARD:3577 Methylcobalamin deficiency type cblG False False False -GARD:3579 Methylmalonic acidemia with homocystinuria False False False -GARD:358 W syndrome False False False -GARD:3582 Methylmalonic acidemia with homocystinuria, type cblD False False False -GARD:3584 Methylmalonic acidemia with homocystinuria type cblF False False False -GARD:3586 Vitamin B12-unresponsive methylmalonic acidemia False False False -GARD:3588 Mevalonic aciduria False False False -GARD:3589 Multiple benign circumferential skin creases on limbs False False False -GARD:359 Cranioectodermal dysplasia False False False -GARD:3596 Microbrachycephaly-ptosis-cleft lip syndrome False False False -GARD:360 Abruzzo-Erickson syndrome False False False -GARD:3602 Microcephalic primordial dwarfism, Toriello type False False False -GARD:3603 Isolated congenital microcephaly False False False -GARD:3604 Microcephaly-albinism-digital anomalies syndrome False False False -GARD:3605 Autosomal dominant primary microcephaly False False False -GARD:3607 Microcephaly-brain defect-spasticity-hypernatremia syndrome False False False -GARD:3609 Microcephaly-cardiomyopathy syndrome False False False -GARD:361 Acalvaria False False False -GARD:3610 Microcephaly-cervical spine fusion anomalies syndrome False False False -GARD:3615 Microcephaly-glomerulonephritis-marfanoid habitus syndrome False False False -GARD:3617 Mikati-Najjar-Sahli syndrome False False False -GARD:3622 Microcephaly-lymphedema-chorioretinopathy syndrome False False False -GARD:3627 Microcephaly-microcornea syndrome, Seemanova type False False False -GARD:363 Acatalasemia False False False -GARD:3635 Congenital microcoria False False False -GARD:3637 Microcornea-glaucoma-absent frontal sinuses syndrome False False False -GARD:364 Isolated arrhinia False False False -GARD:3640 Microgastria-limb reduction defect syndrome False False False -GARD:3643 Autosomal dominant omodysplasia False False False -GARD:3644 Colobomatous microphthalmia False False False -GARD:3645 Microphthalmia with brain and digit anomalies False False False -GARD:365 Aromatase deficiency False False False -GARD:3650 Microphthalmia-microtia-fetal akinesia syndrome False False False -GARD:3652 Microscopic polyangiitis False False False -GARD:3653 Oculoauriculovertebral spectrum with radial defects False False False -GARD:3655 Microsporidiosis False False False -GARD:3659 Microphthalmia with linear skin defects syndrome False False False -GARD:3668 Miller Fisher syndrome False False False -GARD:3669 Miller-Dieker syndrome False False False -GARD:3671 Mitochondrial DNA-associated Leigh syndrome False False False -GARD:3672 Non-spherocytic hemolytic anemia due to hexokinase deficiency False False False -GARD:368 Laryngo-onycho-cutaneous syndrome False False False -GARD:3681 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria False False False -GARD:3682 Mitochondrial myopathy-lactic acidosis-deafness syndrome False False False -GARD:3684 Mitochondrial trifunctional protein deficiency False False False -GARD:3685 Mitral atresia False False False -GARD:3687 Familial mitral valve prolapse False False False -GARD:3688 Mitral valve prolapse 1 False False False -GARD:369 Xq21 microdeletion syndrome False False False -GARD:3690 Melorheostosis with osteopoikilosis False False False -GARD:3692 Syndromic microphthalmia type 5 False False False -GARD:3693 MMEP syndrome False False False -GARD:3697 MODY False False False -GARD:3698 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome False False False -GARD:3699 Fryns syndrome False False False -GARD:37 Partial deletion of the short arm of chromosome 3 False False False -GARD:370 Cholestasis-lymphedema syndrome False False False -GARD:3701 Orofaciodigital syndrome type 2 False False False -GARD:3704 Choroidal atrophy-alopecia syndrome False False False -GARD:3705 Sulfite oxidase deficiency due to molybdenum cofactor deficiency False False False -GARD:3707 Tetramelic monodactyly False False False -GARD:371 Qazi-Markouizos syndrome False False False -GARD:3711 Distal monosomy 10q False False False -GARD:372 Neurofibromatosis-Noonan syndrome False False False -GARD:373 Quinquaud folliculitis decalvans False False False -GARD:3738 1q41q42 microdeletion syndrome False False False -GARD:374 Pectus excavatum-macrocephaly-dysplastic nails syndrome False False False -GARD:3746 2q24 microdeletion syndrome False False False -GARD:375 Cleft lip/palate-ectodermal dysplasia syndrome False False False -GARD:3750 Distal monosomy 3p False False False -GARD:376 Acheiropodia False False False -GARD:3764 6q25 microdeletion syndrome False False False -GARD:3765 Familial monosomy 7 syndrome False False False -GARD:3769 8p23.1 microdeletion syndrome False False False -GARD:377 Congenital absence/hypoplasia of fingers excluding thumb, unilateral False False False -GARD:3773 Monosomy 9p False False False -GARD:378 Johnson neuroectodermal syndrome False False False -GARD:3785 Mucopolysaccharidosis type 4A False False False -GARD:3786 Mucopolysaccharidosis type 4B False False False -GARD:3787 VIPoma False False False -GARD:3788 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome False False False -GARD:379 Renal tubular dysgenesis False False False -GARD:3791 Peripheral motor neuropathy-dysautonomia syndrome False False False -GARD:3793 Mounier-Kühn syndrome False False False -GARD:3795 Spastic ataxia-corneal dystrophy syndrome False False False -GARD:380 Knobloch syndrome False False False -GARD:3806 Mucolipidosis type III False False False -GARD:3807 Mucopolysaccharidosis type 3 False False False -GARD:381 Arachnodactyly-abnormal ossification-intellectual disability syndrome False False False -GARD:3818 Multicentric carpo-tarsal osteolysis with or without nephropathy False False False -GARD:3824 Multiple carboxylase deficiency False False False -GARD:3829 Multiple endocrine neoplasia type 1 False False False -GARD:383 Albers-Schönberg osteopetrosis False False False -GARD:3830 Multiple endocrine neoplasia type 2 False False False -GARD:3834 Lethal multiple pterygium syndrome False False False -GARD:3836 Multiple synostoses syndrome False False False -GARD:384 ADULT syndrome False False False -GARD:3843 Laminin subunit alpha 2-related congenital muscular dystrophy False False False -GARD:3844 TRIM32-related limb-girdle muscular dystrophy R8 False False False -GARD:385 Zimmermann-Laband syndrome False False False -GARD:3851 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 False False False -GARD:3856 Becker nevus syndrome False False False -GARD:3858 Glycogen storage disease due to muscle phosphorylase kinase deficiency False False False -GARD:386 Tetraamelia-multiple malformations syndrome False False False -GARD:3862 Mycetoma False False False -GARD:3863 Classic mycosis fungoides False False False -GARD:3865 Ataxia-pancytopenia syndrome False False False -GARD:3868 Myeloperoxidase deficiency False False False -GARD:387 Combined immunodeficiency due to ZAP70 deficiency False False False -GARD:3872 Progressive myoclonic epilepsy type 6 False False False -GARD:3873 Myoclonus-cerebellar ataxia-deafness syndrome False False False -GARD:3875 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome False False False -GARD:3876 Progressive myoclonic epilepsy type 1 False False False -GARD:3879 Myoglobinuria, recurrent False False False -GARD:3881 Myopathy and diabetes mellitus False False False -GARD:3884 Tubular aggregate myopathy False False False -GARD:3885 Mitochondrial myopathy and sideroblastic anemia False False False -GARD:3889 Carey-Fineman-Ziter syndrome False False False -GARD:3892 X-linked myopathy with excessive autophagy False False False -GARD:3896 Inclusion body myositis False False False -GARD:39 WT limb-blood syndrome False False False -GARD:390 Endosteal hyperostosis, Worth type False False False -GARD:3902 N syndrome False False False -GARD:3903 Alpha-N-acetylgalactosaminidase deficiency type 3 False False False -GARD:3904 Nijmegen breakage syndrome False False False -GARD:3908 Isolated complex I deficiency False False False -GARD:3909 Methemoglobin reductase deficiency False False False -GARD:391 Osteomesopyknosis False False False -GARD:3912 Naegeli-Franceschetti-Jadassohn syndrome False False False -GARD:3916 Proteasome-associated autoinflammatory syndrome 1 False False False -GARD:3919 Isolated growth hormone deficiency type IB False False False -GARD:3921 Isolated growth hormone deficiency type III False False False -GARD:3924 Growth hormone insensitivity syndrome False False False -GARD:3927 Nasopalpebral lipoma-coloboma syndrome False False False -GARD:3928 Neuronal intestinal pseudoobstruction False False False -GARD:3929 Nathalie syndrome False False False -GARD:393 Tungiasis False False False -GARD:3931 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis False False False -GARD:3936 Perlman syndrome False False False -GARD:394 Radioulnar synostosis-microcephaly-scoliosis syndrome False False False -GARD:3940 Nephropathy-deafness-hyperparathyroidism syndrome False False False -GARD:3943 Nephrosis-deafness-urinary tract-digital malformations syndrome False False False -GARD:3946 Genetic steroid-resistant nephrotic syndrome False False False -GARD:3947 Congenital isolated hyperinsulinism False False False -GARD:3948 Tremor-nystagmus-duodenal ulcer syndrome False False False -GARD:3949 Neuhauser-Eichner-Opitz syndrome False False False -GARD:395 Retinal degeneration-nanophthalmos-glaucoma syndrome False False False -GARD:3953 Galactosialidosis False False False -GARD:3955 Amyotrophy, hereditary neuralgic False False False -GARD:3956 Choreoacanthocytosis False False False -GARD:3957 Infantile neuroaxonal dystrophy False False False -GARD:396 Tularemia False False False -GARD:3964 Neurofaciodigitorenal syndrome False False False -GARD:3967 Neurofibromatosis type 6 False False False -GARD:3971 Neuronal intranuclear inclusion disease False False False -GARD:3972 Navajo neurohepatopathy False False False -GARD:3973 Charcot-Marie-Tooth disease type 4D False False False -GARD:3976 Hereditary sensory and autonomic neuropathy type 2 False False False -GARD:3979 Neutral lipid storage disease with ichthyosis False False False -GARD:3981 X-linked severe congenital neutropenia False False False -GARD:3982 Neutropenia-monocytopenia-deafness syndrome False False False -GARD:3986 Familial multiple nevi flammei False False False -GARD:399 46,XX testicular disorder of sex development False False False -GARD:3994 Night blindness-skeletal anomalies-dysmorphism syndrome False False False -GARD:3995 Congenital stationary night blindness False False False -GARD:3999 Ectopia lentis-chorioretinal dystrophy-myopia syndrome False False False -GARD:400 GAPO syndrome False False False -GARD:4001 Noma False False False -GARD:4003 Maternally-inherited diabetes and deafness False False False -GARD:4010 Progressive epilepsy-intellectual disability syndrome, Finnish type False False False -GARD:4011 Familial LCAT deficiency False False False -GARD:4014 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome False False False -GARD:4017 Occipital horn syndrome False False False -GARD:4018 Primary tethered cord syndrome False False False -GARD:402 Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant False False False -GARD:4031 Oculoauriculofrontonasal syndrome False False False -GARD:4034 Oculocerebral hypopigmentation syndrome, Preus type False False False -GARD:4037 Oculocutaneous albinism type 1 False False False -GARD:4038 Oculocutaneous albinism type 2 False False False -GARD:4039 Oculocutaneous albinism type 3 False False False -GARD:404 Osteoporosis-oculocutaneous hypopigmentation syndrome False False False -GARD:4046 Oculomaxillofacial dysostosis False False False -GARD:4047 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome False False False -GARD:4049 3mc syndrome 1 False False False -GARD:405 Subaortic stenosis-short stature syndrome False False False -GARD:4050 Severe oculo-renal-cerebellar syndrome False False False -GARD:4051 Odonto-onycho dysplasia-alopecia syndrome False False False -GARD:4053 Odontomicronychial dysplasia False False False -GARD:4054 Odonto-onycho-dermal dysplasia False False False -GARD:406 Foveal hypoplasia-presenile cataract syndrome False False False -GARD:4060 Orofaciodigital syndrome type 8 False False False -GARD:4061 Orofaciodigital syndrome type 10 False False False -GARD:4062 Infantile-onset spinocerebellar ataxia False False False -GARD:4064 Okamoto syndrome False False False -GARD:4065 Postaxial tetramelic oligodactyly False False False -GARD:4066 Oligomeganephronia False False False -GARD:4069 Oliver syndrome False False False -GARD:407 Ermine phenotype False False False -GARD:4070 Olivopontocerebellar atrophy-deafness syndrome False False False -GARD:4071 Spinocerebellar ataxia type 1 False False False -GARD:4072 Spinocerebellar ataxia type 2 False False False -GARD:4075 Mutilating palmoplantar keratoderma with periorificial keratotic plaques False False False -GARD:4076 Autosomal recessive omodysplasia False False False -GARD:4079 Lethal omphalocele-cleft palate syndrome False False False -GARD:408 Short stature due to growth hormone qualitative anomaly False False False -GARD:4080 Cloacal exstrophy False False False -GARD:4081 Omphalomesenteric cyst False False False -GARD:4083 Cooks syndrome False False False -GARD:4085 Poikiloderma with neutropenia False False False -GARD:409 Pachygyria-intellectual disability-epilepsy syndrome False False False -GARD:4098 Opsismodysplasia False False False -GARD:4106 Renal coloboma syndrome False False False -GARD:4107 Optic pathway glioma False False False -GARD:411 Sanjad-Sakati syndrome False False False -GARD:4116 Oromandibular-limb hypogenesis syndrome False False False -GARD:4118 Orofaciodigital syndrome type 11 False False False -GARD:4119 X-linked intellectual disability, Shashi type False False False -GARD:412 Cheilitis glandularis False False False -GARD:4120 Orofaciodigital syndrome type 5 False False False -GARD:4121 Orofaciodigital syndrome type 1 False False False -GARD:4129 OSLAM syndrome False False False -GARD:413 Geroderma osteodysplastica False False False -GARD:4130 Otospondylomegaepiphyseal dysplasia False False False -GARD:4131 Thiemann disease, familial form False False False -GARD:4133 Familial osteochondritis dissecans False False False -GARD:4136 Familial osteodysplasia, Anderson type False False False -GARD:4139 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome False False False -GARD:414 Bamforth-Lazarus syndrome False False False -GARD:4142 Osteoglosphonic dysplasia False False False -GARD:4148 Osteopathia striata-cranial sclerosis syndrome False False False -GARD:415 Pseudoprogeria syndrome False False False -GARD:4151 Autosomal dominant osteopetrosis type 1 False False False -GARD:4153 Osteopetrosis, autosomal recessive 5 False False False -GARD:4154 Osteopetrosis with renal tubular acidosis False False False -GARD:4155 Osteopetrosis and related disorders False False False -GARD:4156 Intermediate osteopetrosis False False False -GARD:4157 Osteopetrosis, autosomal recessive 2 False False False -GARD:4160 Osteoporosis-pseudoglioma syndrome False False False -GARD:4163 Foix-Alajouanine syndrome False False False -GARD:4166 Heart defect-tongue hamartoma-polysyndactyly syndrome False False False -GARD:4168 Otodental syndrome False False False -GARD:4169 Otofaciocervical syndrome False False False -GARD:4170 Otoonychoperoneal syndrome False False False -GARD:4176 Benign paroxysmal tonic upgaze of childhood with ataxia False False False -GARD:418 Pentosuria False False False -GARD:4183 Overhydrated hereditary stomatocytosis False False False -GARD:4189 Epiphyseal stippling-osteoclastic hyperplasia syndrome False False False -GARD:4192 Extramammary Paget disease False False False -GARD:4199 Hydrocephaly-low insertion umbilicus syndrome False False False -GARD:42 Tetrasomy 9p False False False -GARD:420 Mismatch repair cancer syndrome 1 False False False -GARD:4203 Partial pancreatic agenesis False False False -GARD:4204 Adenoma of pancreas False False False -GARD:4206 Familial pancreatic carcinoma False False False -GARD:4210 Pancreatoblastoma False False False -GARD:4213 Polyostotic fibrous dysplasia False False False -GARD:4214 Papilloma of choroid plexus False False False -GARD:4219 Autosomal dominant spastic paraplegia type 17 False False False -GARD:4222 Parastremmatic dwarfism False False False -GARD:4223 PARC syndrome False False False -GARD:4224 Paris-Trousseau thrombocytopenia False False False -GARD:4227 Idiopathic ventricular fibrillation, non Brugada type False False False -GARD:4228 Neuralgic amyotrophy False False False -GARD:4229 Partial atrioventricular septal defect False False False -GARD:4235 Partington syndrome False False False -GARD:4236 Fetal parvovirus syndrome False False False -GARD:4238 Blepharonasofacial malformation syndrome False False False -GARD:424 XK aprosencephaly syndrome False False False -GARD:425 Tufted angioma False False False -GARD:4259 Pseudoleprechaunism syndrome, Patterson type False False False -GARD:4260 Patterson-Stevenson-Fontaine syndrome False False False -GARD:4261 Oligoarticular juvenile idiopathic arthritis False False False -GARD:4264 PEHO syndrome False False False -GARD:4265 Pelizaeus-Merzbacher disease False False False -GARD:4266 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation False False False -GARD:4269 Pelvic dysplasia-arthrogryposis of lower limbs syndrome False False False -GARD:427 Ptosis-vocal cord paralysis syndrome False False False -GARD:4270 Pemphigus vulgaris, familial False False False -GARD:4271 Pendred syndrome False False False -GARD:4272 Penile agenesis False False False -GARD:4273 Penoscrotal transposition False False False -GARD:4276 Acroosteolysis-keloid-like lesions-premature aging syndrome False False False -GARD:4278 Phosphoenolpyruvate carboxykinase deficiency, cytosolic False False False -GARD:4279 Phosphoenolpyruvate carboxykinase deficiency, mitochondrial False False False -GARD:428 Craniofrontonasal dysplasia-Poland anomaly syndrome False False False -GARD:429 Constriction rings syndrome False False False -GARD:4291 Alopecia-intellectual disability syndrome 2 False False False -GARD:4299 Autosomal recessive distal osteolysis syndrome False False False -GARD:43 Mosaic trisomy 9 False False False -GARD:4302 Mesomelia-synostoses syndrome False False False -GARD:4303 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome False False False -GARD:4304 Preaxial polydactyly-colobomata-intellectual disability syndrome False False False -GARD:4305 Pfeiffer-Palm-Teller syndrome False False False -GARD:431 Microtia False False False -GARD:4311 Phakomatosis pigmentokeratotica False False False -GARD:4312 Phakomatosis pigmentovascularis False False False -GARD:4315 Phenobarbital embryopathy False False False -GARD:4319 Dihydropteridine reductase deficiency False False False -GARD:4323 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome False False False -GARD:4329 PGM1-CDG False False False -GARD:433 Apparent mineralocorticoid excess False False False -GARD:4331 PGM3-CDG False False False -GARD:4337 Phosphoribosylpyrophosphate synthetase superactivity False False False -GARD:434 Hydrocephalus with stenosis of the aqueduct of Sylvius False False False -GARD:4344 Piebaldism False False False -GARD:4346 Autosomal dominant cerebellar ataxia False False False -GARD:4347 Isolated Pierre Robin syndrome False False False -GARD:435 Cleft lip-retinopathy syndrome False False False -GARD:4357 Late-onset retinal degeneration False False False -GARD:4358 Severe combined immunodeficiency due to FOXN1 deficiency False False False -GARD:4359 Ringed hair disease False False False -GARD:436 Adult-onset Still disease False False False -GARD:4361 Pili torti False False False -GARD:4362 Pili torti-developmental delay-neurological abnormalities syndrome False False False -GARD:4364 Pili torti-onychodysplasia syndrome False False False -GARD:4365 Ophthalmomandibulomelic dysplasia False False False -GARD:4369 Trichodermodysplasia-dental alterations syndrome False False False -GARD:4372 Pitt-Hopkins syndrome False False False -GARD:4375 Thumb stiffness-brachydactyly-intellectual disability syndrome False False False -GARD:438 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 False False False -GARD:4380 Hypoplasminogenemia False False False -GARD:4381 Congenital plasminogen activator inhibitor type 1 deficiency False False False -GARD:4382 Platyspondylic dysplasia, Torrance type False False False -GARD:4386 Pneumocystosis False False False -GARD:4391 Kindler epidermolysis bullosa False False False -GARD:4392 Rothmund-Thomson syndrome False False False -GARD:44 Haim-Munk syndrome False False False -GARD:4410 Non-syndromic polydactyly False False False -GARD:4412 Orofaciodigital syndrome type 6 False False False -GARD:4413 Polydactyly-myopia syndrome False False False -GARD:4414 Polydactyly, postaxial, type a1 False False False -GARD:4417 Polydactyly of a biphalangeal thumb False False False -GARD:4421 Catecholaminergic polymorphic ventricular tachycardia False False False -GARD:4424 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome False False False -GARD:4427 Cronkhite-Canada syndrome False False False -GARD:4428 Polysyndactyly-cardiac malformation syndrome False False False -GARD:4434 Syndactyly type 4 False False False -GARD:4436 Bartsocas-Papas syndrome False False False -GARD:4437 Porencephaly-cerebellar hypoplasia-internal malformations syndrome False False False -GARD:4438 Porokeratosis of Mibelli False False False -GARD:4439 Punctate palmoplantar keratoderma type 2 False False False -GARD:4446 Congenital erythropoietic porphyria False False False -GARD:4454 Postpoliomyelitis syndrome False False False -GARD:4457 Posterior uveitis False False False -GARD:4459 Potassium-aggravated myotonia False False False -GARD:4465 PHAVER syndrome False False False -GARD:4470 Guttmacher syndrome False False False -GARD:4475 Familial male-limited precocious puberty False False False -GARD:4477 Congenital prekallikrein deficiency False False False -GARD:448 Vici syndrome False False False -GARD:4482 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome False False False -GARD:4483 Griscelli syndrome type 2 False False False -GARD:4484 Primary ciliary dyskinesia False False False -GARD:4485 Juvenile primary lateral sclerosis False False False -GARD:4488 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome False False False -GARD:4494 Progeria-short stature-pigmented nevi syndrome False False False -GARD:4497 Progeroid syndrome, Petty type False False False -GARD:45 Congenital varicella syndrome False False False -GARD:4500 Acromelanosis False False False -GARD:4503 Progressive external ophthalmoplegia False False False -GARD:4504 Deafness, x-linked 2 False False False -GARD:4507 Atypical progressive supranuclear palsy syndrome False False False -GARD:4508 Prolactinoma False False False -GARD:4509 Proliferating trichilemmal cyst False False False -GARD:4513 Properdin deficiency False False False -GARD:4518 Aprosencephaly cerebellar dysgenesis False False False -GARD:4520 Familial prostate cancer False False False -GARD:4522 Transcobalamin I deficiency False False False -GARD:4527 Autosomal erythropoietic protoporphyria False False False -GARD:4528 Corpus callosum agenesis-abnormal genitalia syndrome False False False -GARD:453 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome False False False -GARD:4531 Proximal spinal muscular atrophy False False False -GARD:4536 Pseudopelade of Brocq False False False -GARD:4539 Bifunctional enzyme deficiency False False False -GARD:454 Accessory pancreas False False False -GARD:4540 Pseudoachondroplasia False False False -GARD:4543 Peroxisomal acyl-CoA oxidase deficiency False False False -GARD:4544 Pseudoaminopterin syndrome False False False -GARD:455 Achalasia, familial esophageal False False False -GARD:4550 Disorder of sex development-intellectual disability syndrome False False False -GARD:4552 Generalized pseudohypoaldosteronism type 1 False False False -GARD:4553 Pseudohypoaldosteronism type 2 False False False -GARD:4559 Acrootoocular syndrome False False False -GARD:456 Achalasia-microcephaly syndrome False False False -GARD:4561 Idiopathic intracranial hypertension False False False -GARD:4568 Pterygium colli-intellectual disability-digital anomalies syndrome False False False -GARD:4569 Familial pterygium of the conjunctiva False False False -GARD:457 Triple A syndrome False False False -GARD:4570 Antecubital pterygium syndrome False False False -GARD:4573 X-linked lethal multiple pterygium syndrome False False False -GARD:4577 Ptosis-strabismus-ectopic pupils syndrome False False False -GARD:458 Spondylometaphyseal dysplasia, A4 type False False False -GARD:4582 Hereditary pulmonary alveolar proteinosis False False False -GARD:4584 Pulmonary arteriovenous malformation False False False -GARD:4586 Abnormal origin of right or left pulmonary artery from the aorta False False False -GARD:4588 Pulmonary atresia with ventricular septal defect False False False -GARD:4589 Peripheral pulmonary stenosis False False False -GARD:459 Achondrogenesis type 1A False False False -GARD:4593 Congenital pulmonary sequestration False False False -GARD:4594 Supravalvular pulmonary stenosis False False False -GARD:4597 Pulmonary valve agenesis False False False -GARD:4598 Congenital pulmonary veins atresia or stenosis False False False -GARD:4599 Congenital pulmonary venous return anomaly False False False -GARD:460 Achondrogenesis type 1B False False False -GARD:4600 Pulmonary atresia-intact ventricular septum syndrome False False False -GARD:4603 Punctate acrokeratoderma freckle-like pigmentation False False False -GARD:4606 Purine nucleoside phosphorylase deficiency False False False -GARD:4607 Immune-mediated thrombotic thrombocytopenic purpura False False False -GARD:4610 Pyknoachondrogenesis False False False -GARD:4611 Pycnodysostosis False False False -GARD:4612 Pyle disease False False False -GARD:4614 Pyomyositis False False False -GARD:4620 Pyruvate dehydrogenase E1-alpha deficiency False False False -GARD:4627 Radial ray hypoplasia-choanal atresia syndrome False False False -GARD:4628 Oculofaciocardiodental syndrome False False False -GARD:4633 Absent radius-anogenital anomalies syndrome False False False -GARD:4634 Leukocyte adhesion deficiency type II False False False -GARD:4635 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome False False False -GARD:4636 Ramos-Arroyo syndrome False False False -GARD:4637 RAPADILINO syndrome False False False -GARD:4638 External auditory canal atresia-vertical talus-hypertelorism syndrome False False False -GARD:4641 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome False False False -GARD:4644 Ataxia-deafness-intellectual disability syndrome False False False -GARD:4647 Complex regional pain syndrome False False False -GARD:4648 Infantile Refsum disease False False False -GARD:465 Isovaleric acidemia False False False -GARD:4655 Renal caliceal diverticuli-deafness syndrome False False False -GARD:4665 NPHP3-related Meckel-like syndrome False False False -GARD:4666 Autosomal recessive distal renal tubular acidosis False False False -GARD:4667 Distal renal tubular acidosis False False False -GARD:4668 Autosomal dominant distal renal tubular acidosis False False False -GARD:467 Propionic acidemia False False False -GARD:4680 X-linked retinal dysplasia False False False -GARD:4683 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome False False False -GARD:4684 Retinitis pigmentosa-deafness syndrome False False False -GARD:469 Pyramidal molars-abnormal upper lip syndrome False False False -GARD:4690 X-linked retinoschisis False False False -GARD:4694 Atypical Rett syndrome False False False -GARD:4695 Revesz syndrome False False False -GARD:4697 Reynolds syndrome False False False -GARD:47 Crigler-Najjar syndrome type 1 False False False -GARD:4701 Alveolar rhabdomyosarcoma False False False -GARD:4702 Embryonal rhabdomyosarcoma False False False -GARD:4703 Rhizomelic dysplasia, Patterson-Lowry type False False False -GARD:4704 Polymyalgia rheumatica False False False -GARD:4705 Rhizomelic syndrome, Urbach type False False False -GARD:4709 Richieri Costa-da Silva syndrome False False False -GARD:4718 Richieri Costa-Pereira syndrome False False False -GARD:4721 Isolated right ventricular hypoplasia False False False -GARD:4722 8q22.1 microdeletion syndrome False False False -GARD:4723 Rigid spine syndrome False False False -GARD:4724 Ring chromosome 17 syndrome False False False -GARD:4729 Robin sequence-oligodactyly syndrome False False False -GARD:4730 Robinow-sorauf syndrome False False False -GARD:4732 Autosomal dominant deafness-onychodystrophy syndrome False False False -GARD:4733 Roch-Leri mesosomatous lipomatosis False False False -GARD:4737 Mayer-Rokitansky-Küster-Hauser syndrome type 1 False False False -GARD:4738 Rombo syndrome False False False -GARD:4740 Ulna metaphyseal dysplasia syndrome False False False -GARD:4741 Roussy-Lévy syndrome False False False -GARD:4744 Congenital rubella syndrome False False False -GARD:4748 Ruvalcaba syndrome False False False -GARD:475 Acquired prothrombin deficiency False False False -GARD:4752 Kousseff syndrome False False False -GARD:4754 Salla disease False False False -GARD:476 Acquired ichthyosis False False False -GARD:4767 Benign schwannoma False False False -GARD:4768 Schwannomatosis False False False -GARD:4769 Congenital muscular dystrophy, Ullrich type False False False -GARD:4771 Sclerosteosis False False False -GARD:4774 Succinyl-CoA:3-oxoacid CoA transferase deficiency False False False -GARD:4775 Aarskog-Scott syndrome False False False -GARD:4776 Craniodigital-intellectual disability syndrome False False False -GARD:4777 Scott syndrome False False False -GARD:4778 Facial dysmorphism-shawl scrotum-joint laxity syndrome False False False -GARD:4792 Testicular seminomatous germ cell tumor False False False -GARD:48 Isolated cytochrome C oxidase deficiency False False False -GARD:480 Acro-renal-mandibular syndrome False False False -GARD:4815 Spontaneous periodic hypothermia False False False -GARD:4818 Shigellosis False False False -GARD:4822 Short chain acyl-CoA dehydrogenase deficiency False False False -GARD:4832 Short rib-polydactyly syndrome, Beemer-Langer type False False False -GARD:4833 Short rib-polydactyly syndrome, Majewski type False False False -GARD:4834 Short rib-polydactyly syndrome, Saldino-Noonan type False False False -GARD:4835 Short rib-polydactyly syndrome, Verma-Naumoff type False False False -GARD:4838 Short stature, Brussels type False False False -GARD:484 Acrofrontofacionasal dysostosis False False False -GARD:4841 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome False False False -GARD:4856 Short stature-wormian bones-dextrocardia syndrome False False False -GARD:4861 Shprintzen-Goldberg syndrome False False False -GARD:4863 Shwachman-Diamond syndrome False False False -GARD:4865 Sialuria False False False -GARD:4867 Siegler-Brewer-Carey syndrome False False False -GARD:4869 Sillence syndrome False False False -GARD:4870 Silver-Russell syndrome False False False -GARD:4873 Flat face-microstomia-ear anomaly syndrome False False False -GARD:4877 Solitary median maxillary central incisor False False False -GARD:4879 Progressive familial heart block, type ii False False False -GARD:4880 Sinus node disease and myopia False False False -GARD:4881 Multiple endocrine neoplasia type 2A False False False -GARD:4883 Situs inversus totalis False False False -GARD:4886 Mononen-Karnes-Senac syndrome False False False -GARD:4891 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome False False False -GARD:4898 Soft tissue sarcoma False False False -GARD:4899 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome False False False -GARD:49 De Barsy syndrome False False False -GARD:4900 Somatostatinoma False False False -GARD:4905 Congenital heart defect-round face-developmental delay syndrome False False False -GARD:491 Acrodysplasia scoliosis False False False -GARD:4910 Autosomal recessive spastic ataxia of Charlevoix-Saguenay False False False -GARD:4914 Infantile-onset ascending hereditary spastic paralysis False False False -GARD:4918 Spastic paraplegia-precocious puberty syndrome False False False -GARD:4919 Autosomal recessive spastic paraplegia type 11 False False False -GARD:4921 Spastic paraplegia-neuropathy-poikiloderma syndrome False False False -GARD:4922 Autosomal recessive spastic paraplegia type 18 False False False -GARD:4923 Spastic paraplegia type 2 False False False -GARD:4924 Autosomal recessive spastic paraplegia type 39 False False False -GARD:4925 Autosomal dominant spastic paraplegia type 4 False False False -GARD:4926 Autosomal recessive spastic paraplegia type 5A False False False -GARD:4927 Spastic paraplegia type 7 False False False -GARD:4928 Autosomal dominant spastic paraplegia type 6 False False False -GARD:4931 Spastic paraplegia-glaucoma-intellectual disability syndrome False False False -GARD:4932 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome False False False -GARD:4936 Weill-Marchesani syndrome False False False -GARD:4938 Juvenile neuronal ceroid lipofuscinosis False False False -GARD:494 Acrofacial dysostosis, Catania type False False False -GARD:4940 Spina bifida-hypospadias syndrome False False False -GARD:4942 Spinal atrophy-ophthalmoplegia-pyramidal syndrome False False False -GARD:4945 Proximal spinal muscular atrophy type 2 False False False -GARD:4947 Spinal muscular atrophy with congenital bone fractures 1 False False False -GARD:4950 Spinocerebellar ataxia type 30 False False False -GARD:4952 Autosomal recessive cerebellar ataxia-movement disorder syndrome False False False -GARD:4953 Spinocerebellar ataxia type 5 False False False -GARD:4954 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia False False False -GARD:4955 Spinocerebellar ataxia type 7 False False False -GARD:4956 Spinocerebellar ataxia type 8 False False False -GARD:4958 Spinocerebellar ataxia-dysmorphism syndrome False False False -GARD:496 Acrofacial dysostosis, Rodríguez type False False False -GARD:4963 Splenogonadal fusion-limb defects-micrognathia syndrome False False False -GARD:4967 Karsch-Neugebauer syndrome False False False -GARD:4969 Czeizel-Losonci syndrome False False False -GARD:497 Acrofacial dysostosis, Weyers type False False False -GARD:4970 SPONASTRIME dysplasia False False False -GARD:4972 Spondylocamptodactyly syndrome False False False -GARD:4973 Spondylocostal dysostosis 3, autosomal recessive False False False -GARD:4974 Spondylocarpotarsal synostosis False False False -GARD:4976 Spondylocostal dysostosis 4, autosomal recessive False False False -GARD:4977 Brachyolmia type 1, toledo type False False False -GARD:4978 Spondyloenchondrodysplasia False False False -GARD:4979 X-linked spondyloepimetaphyseal dysplasia False False False -GARD:498 Nager syndrome False False False -GARD:4980 Spondyloepimetaphyseal dysplasia, Shohat type False False False -GARD:4982 Spondyloepimetaphyseal dysplasia with joint laxity False False False -GARD:4984 Schimke immuno-osseous dysplasia False False False -GARD:4985 Spondyloepiphyseal dysplasia tarda, x-linked False False False -GARD:4987 Spondyloepiphyseal dysplasia congenita False False False -GARD:499 Acrofacial dysostosis, Palagonia type False False False -GARD:4991 Spondylometaphyseal dysplasia, 'corner fracture' type False False False -GARD:4993 Spondylometaphyseal dysplasia, Sedaghatian type False False False -GARD:4994 Spondyloperipheral dysplasia-short ulna syndrome False False False -GARD:4997 Familial spontaneous pneumothorax False False False -GARD:5 Abetalipoproteinemia False False False -GARD:5003 Sebocystomatosis False False False -GARD:5004 Steatocystoma multiplex-natal teeth syndrome False False False -GARD:5012 Sternal cleft False False False -GARD:5015 Steroid dehydrogenase deficiency-dental anomalies syndrome False False False -GARD:5018 Stickler syndrome type 1 False False False -GARD:5020 Stickler syndrome type 2 False False False -GARD:5021 Autosomal dominant otospondylomegaepiphyseal dysplasia False False False -GARD:5023 Stiff person spectrum disorder False False False -GARD:5025 Stiff skin syndrome False False False -GARD:5026 Stimmler syndrome False False False -GARD:5027 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome False False False -GARD:5029 Arthrogryposis-ectodermal dysplasia syndrome False False False -GARD:5034 Alpha delta granule deficiency False False False -GARD:5036 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome False False False -GARD:504 Spondylometaphyseal dysplasia, Schmidt type False False False -GARD:5040 Infantile bilateral striatal necrosis False False False -GARD:5041 Autosomal dominant spastic paraplegia type 3 False False False -GARD:5045 Stüve-Wiedemann syndrome False False False -GARD:5049 Classic lissencephaly False False False -GARD:5050 Subependymal nodular heterotopia False False False -GARD:5051 Subpulmonary stenosis False False False -GARD:5053 Isolated succinate-CoQ reductase deficiency False False False -GARD:5058 Sugarman brachydactyly False False False -GARD:506 Acromesomelic dysplasia, Hunter-Thompson type False False False -GARD:5061 Multiple sulfatase deficiency False False False -GARD:5062 Isolated sulfite oxidase deficiency False False False -GARD:5066 Microphthalmia-ankyloblepharon-intellectual disability syndrome False False False -GARD:5068 46,XY complete gonadal dysgenesis False False False -GARD:507 Acromesomelic dysplasia, Maroteaux type False False False -GARD:5070 Symmetrical thalamic calcifications False False False -GARD:5074 Distal symphalangism False False False -GARD:5077 Symphalangism with multiple anomalies of hands and feet False False False -GARD:508 Hajdu-Cheney syndrome False False False -GARD:5081 Syndactyly type 1 False False False -GARD:5084 Cenani-Lenz syndrome False False False -GARD:5087 Syndactyly type 2 False False False -GARD:5088 Syndactyly type 3 False False False -GARD:5089 Syndactyly type 5 False False False -GARD:5090 Syndactyly-polydactyly-ear lobe syndrome False False False -GARD:5091 Syngnathia-cleft palate syndrome False False False -GARD:5092 Dobrow syndrome False False False -GARD:5100 Syringocystadenoma papilliferum False False False -GARD:5104 Systemic primary carnitine deficiency False False False -GARD:5116 Thrombocytopenia-absent radius syndrome False False False -GARD:512 Acropectorovertebral dysplasia False False False -GARD:5120 Microcephalic osteodysplastic primordial dwarfism types I and III False False False -GARD:5121 Otopalatodigital syndrome type 1 False False False -GARD:5123 Anonychia-microcephaly syndrome False False False -GARD:5124 Autosomal recessive faciodigitogenital syndrome False False False -GARD:5125 Teebi-Shaltout syndrome False False False -GARD:5126 Trigonocephaly-bifid nose-acral anomalies syndrome False False False -GARD:5128 Tel Hashomer camptodactyly syndrome False False False -GARD:5133 Piebald trait-neurologic defects syndrome False False False -GARD:5135 Familial temporal lobe epilepsy False False False -GARD:5138 Frank-Ter Haar syndrome False False False -GARD:514 Acrorenal syndrome False False False -GARD:5140 Embryonal carcinoma False False False -GARD:5144 Tetanus False False False -GARD:5148 Tetra-amelia False False False -GARD:5151 Tetraploidy False False False -GARD:5153 Inverted duplicated chromosome 15 syndrome False False False -GARD:5158 Thakker-Donnai syndrome False False False -GARD:5170 Progressive deafness with stapes fixation False False False -GARD:5175 Thomas syndrome False False False -GARD:5176 X-linked thrombocytopenia with normal platelets False False False -GARD:5177 Hepatic fibrosis-renal cysts-intellectual disability syndrome False False False -GARD:5180 Thoracic dysplasia-hydrocephalus syndrome False False False -GARD:5181 Thoraco-abdominal enteric duplication False False False -GARD:5184 Thoracolaryngopelvic dysplasia False False False -GARD:5186 KRT1-related diffuse nonepidermolytic keratoderma False False False -GARD:5188 Stormorken-Sjaastad-Langslet syndrome False False False -GARD:519 Idiopathic acute eosinophilic pneumonia False False False -GARD:5191 Thrombocytopenia 2 False False False -GARD:5194 Immune thrombocytopenia False False False -GARD:5195 Familial thrombomodulin anomalies False False False -GARD:5199 Thumb deformity-alopecia-pigmentation anomaly syndrome False False False -GARD:5201 Thymic epithelial neoplasm False False False -GARD:5202 Thymic-renal-anal-lung dysplasia False False False -GARD:5204 Familial thyroglossal duct cyst False False False -GARD:5206 Thyroid cancer, nonmedullary, 2 False False False -GARD:521 Sweet syndrome False False False -GARD:5210 Absent tibia-polydactyly-arachnoid cyst syndrome False False False -GARD:5216 Tick-borne encephalitis False False False -GARD:522 Acute lymphoblastic leukemia False False False -GARD:5221 Hereditary neuropathy with liability to pressure palsies False False False -GARD:5225 Toriello-Carey syndrome False False False -GARD:5230 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome False False False -GARD:5231 Skin fragility-woolly hair-palmoplantar keratoderma syndrome False False False -GARD:5232 Weismann-Netter syndrome False False False -GARD:5233 Tracheal agenesis False False False -GARD:5235 Tracheobronchopathia osteochondroplastica False False False -GARD:5237 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome False False False -GARD:5238 X-linked intellectual disability-seizures-psoriasis syndrome False False False -GARD:524 Acute megakaryoblastic leukemia False False False -GARD:5243 Autosomal dominant optic atrophy plus syndrome False False False -GARD:525 Acute monoblastic/monocytic leukemia False False False -GARD:5250 Trichinellosis False False False -GARD:5258 Syndromic diarrhea False False False -GARD:526 Acute myeloblastic leukemia without maturation False False False -GARD:5261 Trichodysplasia-xeroderma syndrome False False False -GARD:5263 Trichofolliculoma False False False -GARD:5266 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome False False False -GARD:5267 Trichoodontoonychial dysplasia False False False -GARD:527 Acute myeloblastic leukemia with maturation False False False -GARD:5270 Trichothiodystrophy 1, photosensitive False False False -GARD:5271 Trichothiodystrophy 4, nonphotosensitive False False False -GARD:5274 Tricuspid atresia False False False -GARD:5279 Baraitser-Winter cerebrofrontofacial syndrome False False False -GARD:5286 Triopia False False False -GARD:5287 Triose phosphate-isomerase deficiency False False False -GARD:5289 Polydactyly of a triphalangeal thumb False False False -GARD:529 Acute myelomonocytic leukemia False False False -GARD:5290 Triphalangeal thumbs-brachyectrodactyly syndrome False False False -GARD:5295 Triploidy False False False -GARD:5299 Trisomy 10p False False False -GARD:5304 Mosaic trisomy 12 False False False -GARD:5305 Trisomy 12p False False False -GARD:5313 Mosaic trisomy 15 False False False -GARD:5317 Mosaic trisomy 17 False False False -GARD:5318 Trisomy 17p False False False -GARD:5323 Trisomy 18p False False False -GARD:5331 Mosaic trisomy 2 False False False -GARD:5333 Trisomy 20p False False False -GARD:5342 Mosaic trisomy 3 False False False -GARD:5354 Mosaic trisomy 7 False False False -GARD:5359 Mosaic trisomy 8 False False False -GARD:536 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) False False False -GARD:5362 Trisomy 8q False False False -GARD:5372 Autosomal recessive spastic paraplegia type 20 False False False -GARD:538 Acute promyelocytic leukemia False False False -GARD:5388 Transient tyrosinemia of the newborn False False False -GARD:5392 Galactose epimerase deficiency False False False -GARD:5393 Uhl anomaly False False False -GARD:5394 Ulbright-Hodes syndrome False False False -GARD:5395 Ulerythema ophryogenesis False False False -GARD:5398 Ulna hypoplasia-intellectual disability syndrome False False False -GARD:54 Duodenal atresia False False False -GARD:540 Medium chain acyl-CoA dehydrogenase deficiency False False False -GARD:5400 Ulnar hypoplasia-split foot syndrome False False False -GARD:5403 Umbilical cord ulceration-intestinal atresia syndrome False False False -GARD:5404 Uncombable hair syndrome False False False -GARD:5408 17q11 microdeletion syndrome False False False -GARD:5409 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 False False False -GARD:5421 Upington disease False False False -GARD:5425 Urachal cyst False False False -GARD:5426 Urban-Rogers-Meyer syndrome False False False -GARD:5427 Hereditary mucoepithelial dysplasia False False False -GARD:5429 Hereditary orotic aciduria False False False -GARD:5430 Müllerian derivatives-lymphangiectasia-polydactyly syndrome False False False -GARD:5435 Usher syndrome type 1 False False False -GARD:5436 Usher syndrome, type i False False False -GARD:5437 Usher syndrome, type ic False False False -GARD:5438 Usher syndrome, type id False False False -GARD:5439 Usher syndrome, type ie False False False -GARD:5440 Usher syndrome type 2 False False False -GARD:5442 Usher syndrome type 3 False False False -GARD:5443 VACTERL/VATER association False False False -GARD:5445 Mayer-Rokitansky-Küster-Hauser syndrome False False False -GARD:5447 Fetal valproate spectrum disorder False False False -GARD:5453 Van den Bosch syndrome False False False -GARD:5456 Cerebrofacioarticular syndrome False False False -GARD:546 Adenine phosphoribosyltransferase deficiency False False False -GARD:5461 Congenital bilateral absence of vas deferens False False False -GARD:5467 Vein of Galen aneurysmal malformation False False False -GARD:5469 Velo-facial-skeletal syndrome False False False -GARD:547 Adenosine monophosphate deaminase deficiency False False False -GARD:5470 Congenital velopharyngeal incompetence False False False -GARD:5472 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome False False False -GARD:5476 Congenitally uncorrected transposition of the great arteries False False False -GARD:5478 Brachyolmia-amelogenesis imperfecta syndrome False False False -GARD:5481 Microspherophakia-metaphyseal dysplasia syndrome False False False -GARD:5482 Verloove Vanhorick-Brubakk syndrome False False False -GARD:5484 Inflammatory linear verrucous epidermal nevus False False False -GARD:5485 Acanthokeratolytic verrucous nevus False False False -GARD:5488 Congenital vertical talus False False False -GARD:5490 Microcephaly-brachydactyly-kyphoscoliosis syndrome False False False -GARD:5494 Viral hemorrhagic fever False False False -GARD:5495 Malignant Sertoli-Leydig cell tumor of the ovary False False False -GARD:5496 Oculogastrointestinal muscular dystrophy False False False -GARD:550 Adenylosuccinate lyase deficiency False False False -GARD:5500 Vitamin B12-responsive methylmalonic acidemia type cblA False False False -GARD:5507 Autosomal dominant vitreoretinochoroidopathy False False False -GARD:5508 Very long chain acyl-CoA dehydrogenase deficiency False False False -GARD:5509 Laryngeal abductor paralysis False False False -GARD:5513 Mayer-Rokitansky-Küster-Hauser syndrome type 2 False False False -GARD:5518 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome False False False -GARD:5519 Waardenburg syndrome type 1 False False False -GARD:5520 Waardenburg syndrome type 2 False False False -GARD:5522 Waardenburg syndrome, type 2b False False False -GARD:5523 Waardenburg syndrome type 3 False False False -GARD:5524 Waardenburg-Shah syndrome False False False -GARD:5525 Waardenburg syndrome False False False -GARD:5528 WAGR syndrome False False False -GARD:5530 Aniridia-intellectual disability syndrome False False False -GARD:5532 Cleidorhizomelic syndrome False False False -GARD:5534 Micro syndrome False False False -GARD:5535 Deaf blind hypopigmentation syndrome, Yemenite type False False False -GARD:5538 Craniosynostosis, Boston type False False False -GARD:5539 Acromelic frontonasal dysplasia False False False -GARD:5545 Weaver-Williams syndrome False False False -GARD:555 X-linked adrenal hypoplasia congenita False False False -GARD:5552 Distal myopathy, Welander type False False False -GARD:5554 Cataract-aberrant oral frenula-growth delay syndrome False False False -GARD:5555 Spastic paraparesis-deafness syndrome False False False -GARD:5560 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome False False False -GARD:5562 Osteopathia striata-pigmentary dermopathy-white forelock syndrome False False False -GARD:5565 Wiedemann-Steiner syndrome False False False -GARD:5569 Wildervanck syndrome False False False -GARD:5573 Acquired von Willebrand syndrome False False False -GARD:5575 Prader-Willi syndrome False False False -GARD:5576 Denys-Drash syndrome False False False -GARD:5579 Wilson-Turner syndrome False False False -GARD:558 Adrenocortical carcinoma False False False -GARD:5584 Curry-Jones syndrome False False False -GARD:5587 Hypodontia-dysplasia of nails syndrome False False False -GARD:5589 Wolcott-Rallison syndrome False False False -GARD:559 Neonatal adrenoleukodystrophy False False False -GARD:5592 Woodhouse-Sakati syndrome False False False -GARD:5593 Intrauterine growth retardation with increased mitomycin c sensitivity False False False -GARD:5595 Carvajal syndrome False False False -GARD:5597 Woolly hair False False False -GARD:5598 Worster-Drought syndrome False False False -GARD:5611 Severe X-linked intellectual disability, Gustavson type False False False -GARD:5613 Intellectual developmental disorder, x-linked 63 False False False -GARD:5614 Intellectual developmental disorder, x-linked 29 False False False -GARD:5615 X-linked intellectual disability, Snyder type False False False -GARD:5617 Allan-Herndon-Dudley syndrome False False False -GARD:5618 T-B+ severe combined immunodeficiency due to gamma chain deficiency False False False -GARD:562 Adrenomyodystrophy False False False -GARD:5620 Xanthinuria type II False False False -GARD:5621 Xanthinuria type I False False False -GARD:5622 Cerebrotendinous xanthomatosis False False False -GARD:5623 Dehydrated hereditary stomatocytosis False False False -GARD:5624 Xeroderma pigmentosum, complementation group a False False False -GARD:5625 Xeroderma pigmentosum, complementation group b False False False -GARD:5626 Xeroderma pigmentosum, complementation group c False False False -GARD:5627 Xeroderma pigmentosum, complementation group e False False False -GARD:5628 Xeroderma pigmentosum, complementation group f False False False -GARD:5629 Xeroderma pigmentosum, complementation group g False False False -GARD:5630 Xeroderma pigmentosum variant False False False -GARD:564 Proximal spinal muscular atrophy type 4 False False False -GARD:5642 Aase-Smith syndrome False False False -GARD:5643 Dentatorubral pallidoluysian atrophy False False False -GARD:5644 Cardiomyopathy, dilated, 1e False False False -GARD:5648 Photosensitive epilepsy False False False -GARD:5653 Gliosarcoma False False False -GARD:5654 Alveolar soft tissue sarcoma False False False -GARD:5657 PFAPA syndrome False False False -GARD:5658 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency False False False -GARD:5659 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency False False False -GARD:5661 D-2-hydroxyglutaric aciduria False False False -GARD:5662 3-hydroxyisobutyric aciduria False False False -GARD:5663 3-methylglutaconic aciduria type 3 False False False -GARD:5665 3-methylcrotonyl-coa carboxylase 1 deficiency False False False -GARD:5666 3C syndrome False False False -GARD:5667 3M syndrome False False False -GARD:5668 Hawkinsinuria False False False -GARD:5671 46,XX gonadal dysgenesis False False False -GARD:5672 Trisomy X False False False -GARD:5674 47,XYY syndrome False False False -GARD:5676 48,XXXY syndrome False False False -GARD:5677 48,XXYY syndrome False False False -GARD:5678 Pentasomy X False False False -GARD:5679 49,XXXXY syndrome False False False -GARD:5680 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency False False False -GARD:5681 5-oxoprolinase deficiency False False False -GARD:5682 6-pyruvoyl-tetrahydropterin synthase deficiency False False False -GARD:5683 Smith-Lemli-Opitz syndrome False False False -GARD:5686 Glycogen storage disease due to muscle phosphofructokinase deficiency False False False -GARD:5688 Temtamy syndrome False False False -GARD:5691 Refsum disease False False False -GARD:5692 Partial androgen insensitivity syndrome False False False -GARD:5693 Reactive arthritis False False False -GARD:5694 Retinitis pigmentosa False False False -GARD:5695 Retinopathy of prematurity False False False -GARD:5696 Rett syndrome False False False -GARD:5697 Fibrosclerosis, multifocal False False False -GARD:5699 Rheumatic fever False False False -GARD:5701 Axenfeld-Rieger syndrome False False False -GARD:5708 Idiopathic achalasia False False False -GARD:5714 Glycogen storage disease due to acid maltase deficiency False False False -GARD:5721 Acrocallosal syndrome False False False -GARD:5723 Acrodermatitis enteropathica False False False -GARD:5724 Acrodysostosis False False False -GARD:5725 Acromegaly False False False -GARD:5727 Congenital isolated ACTH deficiency False False False -GARD:5728 Actinomycosis False False False -GARD:5732 Acute intermittent porphyria False False False -GARD:5739 Adams-Oliver syndrome False False False -GARD:5740 Addison disease False False False -GARD:5747 Ameloblastoma False False False -GARD:5748 Severe combined immunodeficiency due to adenosine deaminase deficiency False False False -GARD:5749 Holmes-Adie syndrome False False False -GARD:575 Aicardi-Goutières syndrome False False False -GARD:5750 Adiposis dolorosa False False False -GARD:5758 X-linked adrenoleukodystrophy False False False -GARD:5761 Familial afibrinogenemia False False False -GARD:5764 Aicardi syndrome False False False -GARD:5770 Pseudohypoparathyroidism with Albright hereditary osteodystrophy False False False -GARD:5774 Alexander disease False False False -GARD:5775 Alkaptonuria False False False -GARD:5783 Alpers-Huttenlocher syndrome False False False -GARD:5784 Alpha-1-antitrypsin deficiency False False False -GARD:5785 Alport syndrome False False False -GARD:5786 Amyotrophic lateral sclerosis False False False -GARD:5787 Alström syndrome False False False -GARD:5791 Amelogenesis imperfecta False False False -GARD:5797 AL amyloidosis False False False -GARD:5802 Otopalatodigital syndrome type 2 False False False -GARD:5803 Androgen insensitivity syndrome False False False -GARD:5808 Isolated anencephaly/exencephaly False False False -GARD:5810 Angelman syndrome False False False -GARD:5816 Isolated aniridia False False False -GARD:5818 Anodontia False False False -GARD:5819 Testicular agenesis False False False -GARD:5824 Antiphospholipid syndrome False False False -GARD:5826 Antley-Bixler syndrome False False False -GARD:5828 Aorta coarctation False False False -GARD:583 Short stature-webbed neck-heart disease syndrome False False False -GARD:5833 Apert syndrome False False False -GARD:5835 Aplasia cutis congenita False False False -GARD:5836 Idiopathic aplastic anemia False False False -GARD:5839 Arachnoiditis False False False -GARD:584 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome False False False -GARD:5840 Argininemia False False False -GARD:5843 Argininosuccinic aciduria False False False -GARD:5847 Arrhythmogenic right ventricular cardiomyopathy False False False -GARD:5852 Asbestos intoxication False False False -GARD:5853 Asherman syndrome False False False -GARD:5854 Aspartylglucosaminuria False False False -GARD:5856 Aspergillosis False False False -GARD:5860 Anaplastic astrocytoma False False False -GARD:5862 Ataxia-telangiectasia False False False -GARD:5864 Alpha-thalassemia-X-linked intellectual disability syndrome False False False -GARD:5865 Atrial septal defect, ostium secundum type False False False -GARD:5867 Localized lipodystrophy False False False -GARD:587 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome False False False -GARD:5870 Autoimmune hemolytic anemia False False False -GARD:5871 Autoimmune hepatitis False False False -GARD:5878 Babesiosis False False False -GARD:588 Alar cartilages hypoplasia-coloboma-telecanthus syndrome False False False -GARD:5885 Baló concentric sclerosis False False False -GARD:5887 Bannayan-Riley-Ruvalcaba syndrome False False False -GARD:589 Albinism-deafness syndrome False False False -GARD:5890 Barth syndrome False False False -GARD:5893 Bartter syndrome False False False -GARD:5897 CLN3 disease False False False -GARD:5898 Congenital myopathy False False False -GARD:5899 Congenital contractural arachnodactyly False False False -GARD:59 Spinocerebellar ataxia type 34 False False False -GARD:5900 Becker muscular dystrophy False False False -GARD:5907 Diffuse astrocytoma False False False -GARD:5913 Mucous membrane pemphigoid False False False -GARD:592 Ocular albinism with late-onset sensorineural deafness False False False -GARD:5926 Birdshot chorioretinopathy False False False -GARD:5939 Blue diaper syndrome False False False -GARD:594 Oculocutaneous albinism type 1B False False False -GARD:5940 Blue rubber bleb nevus False False False -GARD:5950 Bowen-Conradi syndrome False False False -GARD:5961 Bronchiolitis obliterans with obstructive pulmonary disease False False False -GARD:5962 Bronchopulmonary dysplasia False False False -GARD:5966 Brucellosis False False False -GARD:5968 Budd-Chiari syndrome False False False -GARD:5969 Buerger disease False False False -GARD:5972 Bullous pemphigoid False False False -GARD:5973 Burkitt lymphoma False False False -GARD:5974 Burning mouth syndrome False False False -GARD:5975 Scleredema False False False -GARD:5978 C syndrome False False False -GARD:5979 Hereditary angioedema False False False -GARD:5980 Calciphylaxis False False False -GARD:5984 Canavan disease False False False -GARD:599 Fetal alcohol syndrome False False False -GARD:5993 Osteopetrosis, autosomal recessive 4 False False False -GARD:5994 Carcinoid syndrome False False False -GARD:6 Acromesomelic dysplasia False False False -GARD:60 Iridocorneal endothelial syndrome False False False -GARD:600 Glycogen storage disease due to aldolase A deficiency False False False -GARD:6001 Carnosinase deficiency False False False -GARD:6002 Caroli disease False False False -GARD:6003 Carpenter syndrome False False False -GARD:6005 Unicentric Castleman disease False False False -GARD:6007 Caudal regression syndrome False False False -GARD:6010 Macrocystic lymphatic malformation False False False -GARD:6011 Bilateral perisylvian polymicrogyria False False False -GARD:6014 Central core disease False False False -GARD:6015 Central diabetes insipidus False False False -GARD:602 Allergic bronchopulmonary aspergillosis False False False -GARD:6026 Cerebrocostomandibular syndrome False False False -GARD:6027 COFS syndrome False False False -GARD:6033 Chandler syndrome False False False -GARD:6034 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy False False False -GARD:6035 Chédiak-Higashi syndrome False False False -GARD:6036 Cherubism False False False -GARD:6038 Chikungunya False False False -GARD:6039 CHILD syndrome False False False -GARD:604 Autosomal dominant palmoplantar keratoderma and congenital alopecia False False False -GARD:6040 Childhood disintegrative disorder False False False -GARD:6043 Cholera False False False -GARD:6048 Chondrocalcinosis 1 False False False -GARD:6049 Rhizomelic chondrodysplasia punctata type 1 False False False -GARD:605 Alopecia-contractures-dwarfism-intellectual disability syndrome False False False -GARD:6055 Chondrosarcoma False False False -GARD:606 Moynahan syndrome False False False -GARD:6061 Choroideremia False False False -GARD:6064 Chromophobe renal cell carcinoma False False False -GARD:6069 Ring chromosome 13 syndrome False False False -GARD:607 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome False False False -GARD:6072 Ring chromosome 14 syndrome False False False -GARD:6077 Ring chromosome 18 syndrome False False False -GARD:6082 1p36 deletion syndrome False False False -GARD:6083 Ring chromosome 21 syndrome False False False -GARD:6085 Mosaic trisomy 22 False False False -GARD:6091 Trisomy 4p False False False -GARD:6093 Trisomy 5p False False False -GARD:6095 Ring chromosome 6 syndrome False False False -GARD:61 Femoral-facial syndrome False False False -GARD:6100 Chronic granulomatous disease False False False -GARD:6102 Chronic inflammatory demyelinating polyneuropathy False False False -GARD:6104 B-cell chronic lymphocytic leukemia False False False -GARD:6105 Chronic myeloid leukemia False False False -GARD:6107 Neutropenia, lethal congenital, with eosinophilia False False False -GARD:6108 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis False False False -GARD:6111 Eosinophilic granulomatosis with polyangiitis False False False -GARD:6114 Citrullinemia type I False False False -GARD:6118 Cleidocranial dysplasia False False False -GARD:612 Alopecia-intellectual disability syndrome False False False -GARD:6121 Coats disease False False False -GARD:6122 Cockayne syndrome False False False -GARD:6123 Coffin-Lowry syndrome False False False -GARD:6124 Coffin-Siris syndrome False False False -GARD:6125 Cogan-Reese syndrome False False False -GARD:6126 Cohen syndrome False False False -GARD:613 Alopecia totalis False False False -GARD:6130 Cold agglutinin disease False False False -GARD:614 Alopecia universalis False False False -GARD:6140 Common variable immunodeficiency False False False -GARD:6145 Cone-rod dystrophy 2 False False False -GARD:6148 Hereditary thrombophilia due to congenital antithrombin deficiency False False False -GARD:6161 Congenital fiber-type disproportion myopathy False False False -GARD:6164 Congenital heart block False False False -GARD:6168 Polycystic kidney disease 4 with or without polycystic liver disease False False False -GARD:6169 Hepatoerythropoietic porphyria False False False -GARD:617 Oxoglutaric aciduria False False False -GARD:6176 Myotonia congenita, autosomal dominant False False False -GARD:6189 X-linked dominant chondrodysplasia punctata False False False -GARD:6194 Triatrial heart False False False -GARD:6196 Congenital hereditary endothelial dystrophy type II False False False -GARD:62 Filippi syndrome False False False -GARD:6202 Cowden syndrome False False False -GARD:6205 Cramp-fasciculation syndrome False False False -GARD:6206 Crouzon syndrome False False False -GARD:6209 Craniosynostosis False False False -GARD:621 Alpha-thalassemia False False False -GARD:6213 Monosomy 5p False False False -GARD:6217 Simple cryoglobulinemia False False False -GARD:6218 Cryptococcosis False False False -GARD:6224 Cushing syndrome False False False -GARD:6225 Rare cutaneous lupus erythematosus False False False -GARD:6226 Primary cutaneous T-cell lymphoma False False False -GARD:6227 Cutis laxa False False False -GARD:6228 Cutis marmorata telangiectatica congenita False False False -GARD:6229 Cyclic neutropenia False False False -GARD:6233 Cystic fibrosis False False False -GARD:6236 Cystinosis False False False -GARD:6237 Cystinuria False False False -GARD:624 Autosomal dominant Alport syndrome False False False -GARD:6242 Isolated Dandy-Walker malformation False False False -GARD:6243 Darier disease False False False -GARD:6249 Malignant atrophic papulosis False False False -GARD:625 Autosomal recessive Alport syndrome False False False -GARD:6254 Dengue fever False False False -GARD:6258 Dentinogenesis imperfecta False False False -GARD:6263 Dermatomyositis False False False -GARD:6265 Desmoplastic small round cell tumor False False False -GARD:6267 Neuromyelitis optica spectrum disorder False False False -GARD:6274 Blackfan-Diamond anemia False False False -GARD:6275 Diastrophic dysplasia False False False -GARD:6276 Diencephalic syndrome False False False -GARD:6286 Dracunculiasis False False False -GARD:6288 Duane retraction syndrome False False False -GARD:6290 Dubowitz syndrome False False False -GARD:6291 Duchenne muscular dystrophy False False False -GARD:6295 Dyggve-Melchior-Clausen disease False False False -GARD:6299 Dyskeratosis congenita, autosomal dominant 1 False False False -GARD:6300 Dyskeratosis congenita, autosomal recessive 1 False False False -GARD:6308 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form False False False -GARD:6309 Eales disease False False False -GARD:6313 Ebstein malformation of the tricuspid valve False False False -GARD:6317 Ectodermal dysplasia syndrome False False False -GARD:6319 Isolated split hand-split foot malformation False False False -GARD:6321 Trisomy 18 False False False -GARD:6322 Ehlers-Danlos syndrome False False False -GARD:6323 Eisenmenger syndrome False False False -GARD:6329 Emery-Dreifuss muscular dystrophy False False False -GARD:6332 Encephalitis lethargica False False False -GARD:6333 Isolated encephalocele False False False -GARD:6336 Endocardial fibroelastosis False False False -GARD:6337 Infective endocarditis False False False -GARD:6339 Endometrial stromal sarcoma False False False -GARD:634 Leber congenital amaurosis False False False -GARD:635 Leber congenital amaurosis 1 False False False -GARD:6351 Eosinophilic fasciitis False False False -GARD:6353 Ependymoma False False False -GARD:6357 Epidermodysplasia verruciformis False False False -GARD:636 Leber congenital amaurosis 2 False False False -GARD:6360 Epidermolysis bullosa acquisita False False False -GARD:6369 Erdheim-Chester disease False False False -GARD:637 Amaurosis-hypertrichosis syndrome False False False -GARD:6377 Primary erythromelalgia False False False -GARD:6381 Esophageal atresia False False False -GARD:6383 Carcinoma of esophagus False False False -GARD:6386 Cryoglobulinemic vasculitis False False False -GARD:6389 Evans syndrome False False False -GARD:6390 Skeletal Ewing sarcoma False False False -GARD:6398 Bladder exstrophy False False False -GARD:64 Fountain syndrome False False False -GARD:640 Congenital amegakaryocytic thrombocytopenia False False False -GARD:6400 Fabry disease False False False -GARD:6404 Congenital factor X deficiency False False False -GARD:6405 Acquired hemophilia A False False False -GARD:6406 Bilateral striopallidodentate calcinosis False False False -GARD:6408 Familial adenomatous polyposis False False False -GARD:6414 Familial chylomicronemia syndrome False False False -GARD:6421 Familial Mediterranean fever False False False -GARD:6425 Fanconi anemia False False False -GARD:6426 Farber disease False False False -GARD:6427 Farmer's lung disease False False False -GARD:6429 Fatal familial insomnia False False False -GARD:6435 Fetal hydantoin syndrome False False False -GARD:6444 Fibrous dysplasia of bone False False False -GARD:6445 Fibrodysplasia ossificans progressiva False False False -GARD:6447 Severe primary trimethylaminuria False False False -GARD:645 Hypoplastic amelogenesis imperfecta False False False -GARD:6450 Fish-eye disease False False False -GARD:6455 Floating-Harbor syndrome False False False -GARD:6457 Focal dermal hypoplasia False False False -GARD:646 Enamel-renal syndrome False False False -GARD:6464 Fragile X syndrome False False False -GARD:6465 Fraser syndrome False False False -GARD:6466 Freeman-Sheldon syndrome False False False -GARD:6468 Friedreich ataxia False False False -GARD:647 Amelo-onycho-hypohidrotic syndrome False False False -GARD:6471 Essential fructosuria False False False -GARD:6473 Fucosidosis False False False -GARD:6475 Congenital muscular dystrophy, Fukuyama type False False False -GARD:6476 Fumaric aciduria False False False -GARD:6479 GM1 gangliosidosis type 1 False False False -GARD:6481 Autoerythrocyte sensitization syndrome False False False -GARD:6482 Gardner syndrome False False False -GARD:6485 MALT lymphoma False False False -GARD:6497 Pemphigoid gestationis False False False -GARD:6498 Gestational trophoblastic neoplasm False False False -GARD:65 Galloway-Mowat syndrome False False False -GARD:6500 Giant axonal neuropathy False False False -GARD:6506 Pituitary gigantism False False False -GARD:6509 Fibromatosis, gingival, 1 False False False -GARD:6513 Glial tumor False False False -GARD:6514 Gliomatosis cerebri False False False -GARD:6519 Glossopharyngeal neuralgia False False False -GARD:6520 Class I glucose-6-phosphate dehydrogenase deficiency False False False -GARD:6521 Glucose-galactose malabsorption False False False -GARD:6522 Glutaryl-CoA dehydrogenase deficiency False False False -GARD:6523 Multiple acyl-CoA dehydrogenase deficiency False False False -GARD:6528 Glycogen storage disease due to muscle glycogen phosphorylase deficiency False False False -GARD:6529 Glycogen storage disease due to liver glycogen phosphorylase deficiency False False False -GARD:654 Beta-mercaptolactate cysteine disulfiduria False False False -GARD:6542 Gorham-Stout disease False False False -GARD:6543 Acrogeria False False False -GARD:6544 Acute graft versus host disease False False False -GARD:6550 Greig cephalopolysyndactyly syndrome False False False -GARD:6554 Guillain-Barré syndrome False False False -GARD:6556 Gyrate atrophy of choroid and retina False False False -GARD:6558 Congenital factor XII deficiency False False False -GARD:6559 Familial benign chronic pemphigus False False False -GARD:6560 Classic hairy cell leukemia False False False -GARD:6564 Pantothenate kinase-associated neurodegeneration False False False -GARD:6568 Harlequin ichthyosis False False False -GARD:6569 Hartnup disease False False False -GARD:6571 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome False False False -GARD:6584 Sickle cell-hemoglobin C disease syndrome False False False -GARD:6588 Shiga toxin-associated hemolytic uremic syndrome False False False -GARD:6589 Familial hemophagocytic lymphohistiocytosis False False False -GARD:6591 Hemophilia A False False False -GARD:6594 Essential thrombocythemia False False False -GARD:66 Gorlin-Chaudhry-Moss syndrome False False False -GARD:6608 Adult hepatocellular carcinoma False False False -GARD:6611 Hereditary amyloidosis False False False -GARD:6618 CLN9 disease False False False -GARD:6619 Hereditary coproporphyria False False False -GARD:6621 Hereditary elliptocytosis False False False -GARD:6622 Hereditary fructose intolerance False False False -GARD:6626 Hereditary hemorrhagic telangiectasia False False False -GARD:6632 Hereditary chronic pancreatitis False False False -GARD:6635 Hereditary sensory and autonomic neuropathy type 1 False False False -GARD:6637 Hereditary spastic paraplegia False False False -GARD:6639 Hereditary spherocytosis False False False -GARD:664 Anaplastic thyroid carcinoma False False False -GARD:6643 Hermansky-Pudlak syndrome False False False -GARD:6649 Herpes simplex virus encephalitis False False False -GARD:6657 Chronic hiccup False False False -GARD:6660 Hirschsprung disease False False False -GARD:6661 Histidinemia False False False -GARD:6665 Holoprosencephaly False False False -GARD:6666 Holt-Oram syndrome False False False -GARD:6667 Classic homocystinuria False False False -GARD:6670 Congenital Horner syndrome False False False -GARD:6675 Mucopolysaccharidosis type 2 False False False -GARD:6677 Huntington disease False False False -GARD:668 X-linked sideroblastic anemia and spinocerebellar ataxia False False False -GARD:6681 Hydranencephaly False False False -GARD:6682 Congenital hydrocephalus False False False -GARD:6683 Hydrolethalus False False False -GARD:670 Aneurysm of sinus of Valsalva False False False -GARD:6703 Dysbetalipoproteinemia False False False -GARD:6704 Familial apolipoprotein A5 deficiency False False False -GARD:671 Angel-shaped phalango-epiphyseal dysplasia False False False -GARD:6710 Hyperprolinemia type 2 False False False -GARD:6724 Hypochondroplasia False False False -GARD:6725 Hypocomplementemic urticarial vasculitis False False False -GARD:6729 Hypokalemic periodic paralysis False False False -GARD:6734 Hypophosphatasia False False False -GARD:6735 Hypophosphatemic rickets False False False -GARD:6737 Panhypopituitarism, x-linked False False False -GARD:6739 Hypoplastic left heart syndrome False False False -GARD:6749 Mucolipidosis type II False False False -GARD:6757 Idiopathic pulmonary artery dilatation False False False -GARD:676 Hereditary neurocutaneous malformation False False False -GARD:6760 Idiopathic juvenile osteoporosis False False False -GARD:6763 Idiopathic pulmonary hemosiderosis False False False -GARD:6778 Incontinentia pigmenti False False False -GARD:6779 Infantile apnea False False False -GARD:6791 Fuchs heterochromic iridocyclitis False False False -GARD:6793 Isaacs syndrome False False False -GARD:6795 Right sided atrial isomerism False False False -GARD:6796 Jackson-Weiss syndrome False False False -GARD:6797 Japanese encephalitis False False False -GARD:6798 Autosomal recessive spondylocostal dysostosis False False False -GARD:68 Hypoglossia-hypodactyly syndrome False False False -GARD:6800 Autosomal dominant hyper-IgE syndrome False False False -GARD:6801 Spinocerebellar ataxia type 3 False False False -GARD:6802 Joubert syndrome False False False -GARD:6805 Juvenile dermatomyositis False False False -GARD:6807 Infantile systemic hyalinosis False False False -GARD:6808 Juvenile myoclonic epilepsy False False False -GARD:6810 Kabuki syndrome False False False -GARD:6814 Kaposi sarcoma False False False -GARD:6816 Kawasaki disease False False False -GARD:6817 Kearns-Sayre syndrome False False False -GARD:6818 Kennedy disease False False False -GARD:6821 Muir-Torre syndrome False False False -GARD:6829 Keratosis follicularis spinulosa decalvans False False False -GARD:683 Angiostrongyliasis False False False -GARD:6830 Bilirubin encephalopathy False False False -GARD:6834 Kikuchi-Fujimoto disease False False False -GARD:6835 Kimura disease False False False -GARD:6840 Klüver-Bucy syndrome False False False -GARD:6841 Kniest dysplasia False False False -GARD:6842 Osteochondrosis of the tarsal bone False False False -GARD:6844 Krabbe disease False False False -GARD:6845 CLN4A disease False False False -GARD:6848 Lacrimoauriculodentodigital syndrome False False False -GARD:685 Aniridia-absent patella syndrome False False False -GARD:6851 Lambert-Eaton myasthenic syndrome False False False -GARD:6855 Landau-Kleffner syndrome False False False -GARD:6858 Langerhans cell histiocytosis False False False -GARD:6859 Laron syndrome False False False -GARD:6860 Larsen syndrome False False False -GARD:6865 Congenital laryngomalacia False False False -GARD:6866 Bardet-Biedl syndrome False False False -GARD:6867 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency False False False -GARD:6870 Leber hereditary optic neuropathy False False False -GARD:6873 Ledderhose disease False False False -GARD:6874 Legg-Calvé-Perthes disease False False False -GARD:6876 Legionnaires disease False False False -GARD:6877 Leigh syndrome False False False -GARD:6878 Erythroderma desquamativum False False False -GARD:6880 Leiomyosarcoma False False False -GARD:6881 Leishmaniasis False False False -GARD:6882 Lemierre syndrome False False False -GARD:6885 Leprechaunism False False False -GARD:6886 Leprosy False False False -GARD:689 Aniridia-ptosis-intellectual disability-familial obesity syndrome False False False -GARD:6893 Leukocyte adhesion deficiency type I False False False -GARD:6895 Leukodystrophy False False False -GARD:69 Hantavirus pulmonary syndrome False False False -GARD:690 Aniridia-renal agenesis-psychomotor retardation syndrome False False False -GARD:6901 Lhermitte-Duclos disease False False False -GARD:6902 Li-Fraumeni syndrome False False False -GARD:6906 Light chain deposition disease False False False -GARD:6907 Limb-girdle muscular dystrophy False False False -GARD:6913 Liposarcoma False False False -GARD:6914 Lissencephaly type 1 due to doublecortin gene mutation False False False -GARD:6915 Listeriosis False False False -GARD:6919 Locked-in syndrome False False False -GARD:693 Anisakiasis False False False -GARD:6940 Jessner lymphocytic infiltration of the skin False False False -GARD:6943 Lymphomatoid granulomatosis False False False -GARD:6944 Lymphomatoid papulosis False False False -GARD:6950 Megalencephaly-capillary malformation-polymicrogyria syndrome False False False -GARD:6951 Macrodactyly of toes False False False -GARD:6953 Macular corneal dystrophy False False False -GARD:6956 Sporadic Creutzfeldt-Jakob disease False False False -GARD:6957 Multiple symmetric lipomatosis False False False -GARD:6958 Maffucci syndrome False False False -GARD:6959 Mal de débarquement False False False -GARD:696 Ankyloblepharon filiforme adnatum-cleft palate syndrome False False False -GARD:6960 Malakoplakia False False False -GARD:6961 Malaria False False False -GARD:6963 Undifferentiated pleomorphic sarcoma False False False -GARD:6964 Malignant hyperthermia of anesthesia False False False -GARD:6968 Alpha-mannosidosis False False False -GARD:6969 Mantle cell lymphoma False False False -GARD:697 Ankyloblepharon filiforme adnatum-imperforate anus syndrome False False False -GARD:6971 Marchiafava-Bignami disease False False False -GARD:6972 Marcus-Gunn syndrome False False False -GARD:6973 Marden-Walker syndrome False False False -GARD:6975 Marfan syndrome type 1 False False False -GARD:6984 Marshall syndrome False False False -GARD:6985 Marshall-Smith syndrome False False False -GARD:6986 MASA syndrome False False False -GARD:6987 Mastocytosis False False False -GARD:6992 Maxillonasal dysplasia False False False -GARD:6995 McCune-Albright syndrome False False False -GARD:6996 Cartilage-hair hypoplasia False False False -GARD:7 Acromicric dysplasia False False False -GARD:70 Kasabach-Merritt syndrome False False False -GARD:7002 MUC1-related autosomal dominant tubulointerstitial kidney disease False False False -GARD:7004 Medullary thyroid carcinoma False False False -GARD:7005 Medulloblastoma False False False -GARD:7006 Imerslund-Gräsbeck syndrome False False False -GARD:7008 Blepharospasm-oromandibular dystonia syndrome False False False -GARD:7009 MELAS False False False -GARD:701 Dental ankylosis False False False -GARD:7010 Melkersson-Rosenthal syndrome False False False -GARD:7011 Melnick-Needles syndrome False False False -GARD:7015 Meningioma False False False -GARD:7021 Mercury poisoning False False False -GARD:7026 Pleural mesothelioma False False False -GARD:7029 Metaphyseal chondrodysplasia, Schmid type False False False -GARD:7035 Multiple osteochondromas False False False -GARD:7039 Microvillus inclusion disease False False False -GARD:7041 Extranodal nasal NK/T cell lymphoma False False False -GARD:7043 IgG4-related dacryoadenitis and sialadenitis False False False -GARD:705 Annular pancreas False False False -GARD:7051 Mixed connective tissue disease False False False -GARD:7058 Localized scleroderma False False False -GARD:7064 Moyamoya disease False False False -GARD:7065 Mucopolysaccharidosis False False False -GARD:7071 Sanfilippo syndrome type A False False False -GARD:7072 Sanfilippo syndrome type B False False False -GARD:7073 Sanfilippo syndrome type C False False False -GARD:7074 Sanfilippo syndrome type D False False False -GARD:7079 Multiple system atrophy False False False -GARD:7095 Mucopolysaccharidosis type 6 False False False -GARD:7096 Mucopolysaccharidosis type 7 False False False -GARD:7097 Muenke syndrome False False False -GARD:710 Anonychia-onychodystrophy syndrome False False False -GARD:7100 Müllerian aplasia False False False -GARD:7103 Multicentric reticulohistiocytosis False False False -GARD:7108 Multiple myeloma False False False -GARD:7111 Autosomal recessive multiple pterygium syndrome False False False -GARD:7122 Myasthenia gravis False False False -GARD:713 Matthew-Wood syndrome False False False -GARD:7132 Myelodysplastic syndrome False False False -GARD:7139 Myoclonus-dystonia syndrome False False False -GARD:7140 Progressive myoclonic epilepsy False False False -GARD:7144 MERRF False False False -GARD:7146 Inflammatory myofibroblastic tumor False False False -GARD:7148 Hyaline body myopathy False False False -GARD:7157 Myxoid/round cell liposarcoma False False False -GARD:7158 Hyperammonemia due to N-acetylglutamate synthase deficiency False False False -GARD:7160 Nail-patella syndrome False False False -GARD:7161 Nance-Horan syndrome False False False -GARD:7162 Narcolepsy type 1 False False False -GARD:7163 Nasopharyngeal carcinoma False False False -GARD:7166 Gorlin syndrome False False False -GARD:717 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome False False False -GARD:7170 Nelson syndrome False False False -GARD:7171 Childhood-onset nemaline myopathy False False False -GARD:7172 Neonatal hemochromatosis False False False -GARD:7178 Nephrogenic diabetes insipidus False False False -GARD:7180 Benign peripheral nerve sheath tumor False False False -GARD:7182 Netherton syndrome False False False -GARD:7183 Sialidosis type 2 False False False -GARD:7185 Neuroblastoma False False False -GARD:7186 Neurocutaneous melanocytosis False False False -GARD:719 Anophthalmia plus syndrome False False False -GARD:7190 Alzheimer disease 15 False False False -GARD:7191 Neurofibroma False False False -GARD:7193 Neurofibromatosis type 2 False False False -GARD:7195 Neuroleptic malignant syndrome False False False -GARD:7201 Thymic aplasia False False False -GARD:7206 Infantile neurovisceral acid sphingomyelinase deficiency False False False -GARD:7207 Niemann-Pick disease type C False False False -GARD:7210 Nocardiosis False False False -GARD:7219 Glycine encephalopathy False False False -GARD:722 Microphthalmia with limb anomalies False False False -GARD:7220 Milroy disease False False False -GARD:7223 Noonan syndrome 1 False False False -GARD:7224 Norrie disease False False False -GARD:7226 Lesch-Nyhan syndrome False False False -GARD:7239 Oculodentodigital dysplasia False False False -GARD:7245 Oculopharyngeal muscular dystrophy False False False -GARD:7251 Ollier disease False False False -GARD:7252 Onchocerciasis False False False -GARD:7264 Oral submucous fibrosis False False False -GARD:7269 Carbamoyl-phosphate synthetase 1 deficiency False False False -GARD:7284 Osteosarcoma False False False -GARD:7295 Ovarian cancer False False False -GARD:7296 Malignant mixed Müllerian tumor of the ovary False False False -GARD:7299 Pachydermoperiostosis False False False -GARD:73 X-linked hyper-IgM syndrome False False False -GARD:730 Anti-HLA hyperimmunization False False False -GARD:7303 Paget disease of the nipple False False False -GARD:7305 Pallister-Hall syndrome False False False -GARD:731 Congenital alpha2-antiplasmin deficiency False False False -GARD:7312 PANDAS False False False -GARD:7321 Localized lichen myxedematosus False False False -GARD:7323 Paracoccidioidomycosis False False False -GARD:7324 Paragangliomas 1 False False False -GARD:7325 Paramyotonia congenita of Von Eulenburg False False False -GARD:7326 Paraneoplastic neurologic syndrome False False False -GARD:7329 Parathyroid carcinoma False False False -GARD:7335 Paroxysmal cold hemoglobinuria False False False -GARD:7337 Paroxysmal nocturnal hemoglobinuria False False False -GARD:7338 Progressive hemifacial atrophy False False False -GARD:7341 Trisomy 13 False False False -GARD:7342 Patent ductus arteriosus 1 False False False -GARD:7343 Pearson syndrome False False False -GARD:7347 Peeling skin syndrome False False False -GARD:735 Antisynthetase syndrome False False False -GARD:7354 Pemphigus foliaceus False False False -GARD:7355 Pemphigus vulgaris False False False -GARD:7359 Pentalogy of Cantrell False False False -GARD:7360 Polyarteritis nodosa False False False -GARD:7371 Periventricular nodular heterotopia 1 False False False -GARD:7377 Peters anomaly False False False -GARD:7378 Peutz-Jeghers syndrome False False False -GARD:738 Congenital aortopulmonary window False False False -GARD:7380 Pfeiffer syndrome False False False -GARD:7381 Liddle syndrome False False False -GARD:7383 Phenylketonuria False False False -GARD:7385 Sporadic pheochromocytoma/secreting paraganglioma False False False -GARD:7387 Roberts syndrome False False False -GARD:7389 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency False False False -GARD:739 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome False False False -GARD:7392 Behavioral variant of frontotemporal dementia False False False -GARD:7396 Tenosynovial giant cell tumor False False False -GARD:7399 Isolated growth hormone deficiency type IA False False False -GARD:740 Aortic arch interruption False False False -GARD:7401 Pityriasis rubra pilaris False False False -GARD:7403 Placental site trophoblastic tumor False False False -GARD:741 Aortic arch defects False False False -GARD:7411 POEMS syndrome False False False -GARD:7412 Poland syndrome False False False -GARD:7413 Poliomyelitis False False False -GARD:7415 Cutaneous polyarteritis nodosa False False False -GARD:7417 Relapsing polychondritis False False False -GARD:7422 Polycythemia vera False False False -GARD:7425 Polymyositis False False False -GARD:743 Supravalvular aortic stenosis False False False -GARD:7430 Porencephaly False False False -GARD:7433 Porphyria cutanea tarda False False False -GARD:7439 Posterior urethral valve False False False -GARD:7446 Rare precocious puberty False False False -GARD:7459 Primary biliary cholangitis False False False -GARD:7467 Hutchinson-Gilford progeria syndrome False False False -GARD:7468 Progressive multifocal leukoencephalopathy False False False -GARD:7471 Progressive supranuclear palsy False False False -GARD:7473 Prolidase deficiency False False False -GARD:7475 Proteus syndrome False False False -GARD:7479 Prune belly syndrome False False False -GARD:748 Aphalangy-syndactyly-microcephaly syndrome False False False -GARD:7482 Butyrylcholinesterase deficiency False False False -GARD:7486 Pseudohypoparathyroidism type 1A False False False -GARD:7488 Pseudomyxoma peritonei False False False -GARD:7499 Autoimmune pulmonary alveolar proteinosis False False False -GARD:7501 Pulmonary arterial hypertension False False False -GARD:7503 Punctate inner choroidopathy False False False -GARD:7510 Pyoderma gangrenosum False False False -GARD:7512 Pyruvate carboxylase deficiency False False False -GARD:7513 Pyruvate dehydrogenase deficiency False False False -GARD:7514 Hemolytic anemia due to red cell pyruvate kinase deficiency False False False -GARD:7515 Q fever False False False -GARD:7516 Rabies False False False -GARD:7523 Ramon syndrome False False False -GARD:7525 Ramsay Hunt syndrome False False False -GARD:753 Aplasia cutis congenita-intestinal lymphangiectasia syndrome False False False -GARD:7548 Familial renal glucosuria False False False -GARD:7552 Primary renal tubular acidosis False False False -GARD:756 Aplasia cutis-myopia syndrome False False False -GARD:7563 Retinoblastoma False False False -GARD:7570 Reye syndrome False False False -GARD:7572 Rhabdoid tumor False False False -GARD:7581 Familial dysautonomia False False False -GARD:7585 Rocky Mountain spotted fever False False False -GARD:7588 Rosaï-Dorfman disease False False False -GARD:759 Familial apolipoprotein C-II deficiency False False False -GARD:7593 Rubinstein-Taybi syndrome False False False -GARD:7598 Saethre-Chotzen syndrome False False False -GARD:76 Hypohidrotic ectodermal dysplasia False False False -GARD:7604 Sandhoff disease, infantile form False False False -GARD:7606 SAPHO syndrome False False False -GARD:7607 Sarcoidosis False False False -GARD:7608 X-linked scapuloperoneal muscular dystrophy False False False -GARD:7610 Familial Scheuermann disease False False False -GARD:7611 Autoimmune polyendocrinopathy type 2 False False False -GARD:7615 Scleromyxedema False False False -GARD:7617 Kuru False False False -GARD:7627 Septo-optic dysplasia spectrum False False False -GARD:7628 Severe combined immunodeficiency False False False -GARD:7629 Sézary syndrome False False False -GARD:7630 Sheehan syndrome False False False -GARD:7633 SHORT syndrome False False False -GARD:7639 Sialidosis type 1 False False False -GARD:764 Arachnodactyly-intellectual disability-dysmorphism syndrome False False False -GARD:7649 Simpson-Golabi-Behmel syndrome False False False -GARD:7652 Sirenomelia False False False -GARD:7653 Sitosterolemia False False False -GARD:7654 Sjögren-Larsson syndrome False False False -GARD:7664 Sneddon syndrome False False False -GARD:7672 Sphingolipidosis False False False -GARD:7673 Isolated spina bifida False False False -GARD:7687 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia False False False -GARD:7690 Gerstmann-Straussler-Scheinker syndrome False False False -GARD:7692 Sporotrichosis False False False -GARD:7693 Sprengel deformity False False False -GARD:7695 Succinic semialdehyde dehydrogenase deficiency False False False -GARD:770 Aromatic L-amino acid decarboxylase deficiency False False False -GARD:7700 Stevens-Johnson syndrome False False False -GARD:7706 Sturge-Weber syndrome False False False -GARD:7708 Subacute sclerosing leukoencephalitis False False False -GARD:7710 Congenital sucrase-isomaltase deficiency False False False -GARD:7712 Superior mesenteric artery syndrome False False False -GARD:7713 Susac syndrome False False False -GARD:7716 Sydenham chorea False False False -GARD:7721 Synovial sarcoma False False False -GARD:7725 Syringomyelia False False False -GARD:7730 Takayasu arteritis False False False -GARD:7731 Tangier disease False False False -GARD:7737 Tay-Sachs disease False False False -GARD:774 Arterial tortuosity syndrome False False False -GARD:7743 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum False False False -GARD:7751 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency False False False -GARD:7754 Tetrasomy X False False False -GARD:7759 Thoracic outlet syndrome False False False -GARD:777 Arthrogryposis multiplex congenita False False False -GARD:7772 Tietz syndrome False False False -GARD:7777 Tolosa-Hunt syndrome False False False -GARD:7784 Townes-Brocks syndrome False False False -GARD:7793 Transient erythroblastopenia of childhood False False False -GARD:7795 Transposition of the great arteries False False False -GARD:7799 Tricho-dento-osseous syndrome False False False -GARD:7800 Trichorhinophalangeal syndrome, type i False False False -GARD:7801 Trichorhinophalangeal syndrome type 2 False False False -GARD:7802 Trichorhinophalangeal syndrome, type iii False False False -GARD:7805 Trigeminal neuralgia False False False -GARD:7826 African trypanosomiasis False False False -GARD:7827 Tuberculosis False False False -GARD:7828 Tuberculous meningitis False False False -GARD:7830 Tuberous sclerosis complex False False False -GARD:7831 Turner syndrome False False False -GARD:7837 Disorder of urea cycle metabolism and ammonia detoxification False False False -GARD:784 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome False False False -GARD:7842 Cutaneous mastocytosis False False False -GARD:7843 Usher syndrome False False False -GARD:7846 Van der woude syndrome 2 False False False -GARD:7848 Porphyria variegata False False False -GARD:7851 Cutaneous small vessel vasculitis False False False -GARD:7854 Vernal keratoconjunctivitis False False False -GARD:7855 Von Hippel-Lindau disease False False False -GARD:7857 Hemophagocytic syndrome associated with an infection False False False -GARD:786 Distal arthrogryposis False False False -GARD:7860 Pseudopseudohypoparathyroidism False False False -GARD:7862 Vogt-Koyanagi-Harada disease False False False -GARD:7864 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia False False False -GARD:7866 Neurofibromatosis type 1 False False False -GARD:7867 Von Willebrand disease False False False -GARD:787 Distal arthrogryposis type 1 False False False -GARD:7871 Wagner disease False False False -GARD:7872 Waldenström macroglobulinemia False False False -GARD:7873 Primary intestinal lymphangiectasia False False False -GARD:7876 Autoimmune hemolytic anemia, warm type False False False -GARD:7878 Weaver syndrome False False False -GARD:7879 Nodular non-suppurative panniculitis False False False -GARD:7880 Granulomatosis with polyangiitis False False False -GARD:7881 Leptospirosis False False False -GARD:7883 Proximal spinal muscular atrophy type 1 False False False -GARD:7885 Werner syndrome False False False -GARD:7887 Infantile spasms syndrome False False False -GARD:7888 Western equine encephalitis False False False -GARD:7889 Whipple disease False False False -GARD:7890 Intellectual disability-developmental delay-contractures syndrome False False False -GARD:7891 Williams syndrome False False False -GARD:7892 Nephroblastoma False False False -GARD:7893 Wilson disease False False False -GARD:7894 Winchester syndrome False False False -GARD:7895 Wiskott-Aldrich syndrome False False False -GARD:7896 Wolf-Hirschhorn syndrome False False False -GARD:7898 Wolfram syndrome False False False -GARD:7899 Wolman disease False False False -GARD:79 Metaphyseal chondrodysplasia, Jansen type False False False -GARD:790 Neurogenic arthrogryposis multiplex congenita False False False -GARD:7900 Wyburn-Mason syndrome False False False -GARD:7904 Recessive X-linked ichthyosis False False False -GARD:7906 X-linked lymphoproliferative disease due to SH2D1A deficiency False False False -GARD:7910 Xeroderma pigmentosum False False False -GARD:7914 Yellow fever False False False -GARD:7917 Zellweger syndrome False False False -GARD:7918 Zollinger-Ellison syndrome False False False -GARD:792 Arthrogryposis multiplex congenita-whistling face syndrome False False False -GARD:7922 Muscular dystrophy False False False -GARD:794 Arthrogryposis-renal dysfunction-cholestasis syndrome False False False -GARD:80 Johanson-Blizzard syndrome False False False -GARD:802 Atrioventricular septal defect False False False -GARD:804 Alagille syndrome False False False -GARD:806 Spastic paraplegia-facial-cutaneous lesions syndrome False False False -GARD:809 Balantidiasis False False False -GARD:81 Intellectual developmental disorder, x-linked, syndromic, turner type False False False -GARD:812 Bangstad syndrome False False False -GARD:813 Banki syndrome False False False -GARD:816 Orofaciodigital syndrome type 4 False False False -GARD:8169 IgG4-related mesenteritis False False False -GARD:8173 Achondroplasia False False False -GARD:8174 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome False False False -GARD:8178 Hypotrichosis 7 False False False -GARD:8182 Proximal symphalangism False False False -GARD:8189 Conotruncal heart malformations False False False -GARD:819 Barber-Say syndrome False False False -GARD:8194 Cysticercosis False False False -GARD:8195 Strongyloidiasis False False False -GARD:8197 Smith-Magenis syndrome False False False -GARD:8198 Omenn syndrome False False False -GARD:82 KBG syndrome False False False -GARD:820 Bardet-biedl syndrome 1 False False False -GARD:8204 Immunoglobulin A vasculitis False False False -GARD:8206 Congenital generalized hypertrichosis, Ambras type False False False -GARD:8207 Pineocytoma False False False -GARD:8208 Tropical spastic paraparesis False False False -GARD:821 Bardet-biedl syndrome 2 False False False -GARD:8214 Lafora disease False False False -GARD:8216 Mansonelliasis False False False -GARD:822 Bardet-biedl syndrome 3 False False False -GARD:8223 B-cell prolymphocytic leukemia False False False -GARD:8225 Chronic myelomonocytic leukemia False False False -GARD:823 Bardet-biedl syndrome 4 False False False -GARD:8231 Non-Langerhans cell histiocytosis False False False -GARD:8232 Hemangioblastoma False False False -GARD:8233 Gaucher disease False False False -GARD:8234 Felty syndrome False False False -GARD:8238 Choroid plexus carcinoma False False False -GARD:824 Immunodeficiency by defective expression of MHC class II False False False -GARD:8240 Hypersensitivity pneumonitis, familial False False False -GARD:8241 Sea-blue histiocytosis False False False -GARD:8249 Acquired idiopathic sideroblastic anemia False False False -GARD:8254 Omsk hemorrhagic fever False False False -GARD:8257 Kyasanur forest disease False False False -GARD:8259 Plummer-Vinson syndrome False False False -GARD:826 Frontometaphyseal dysplasia False False False -GARD:8270 Muscular pseudohypertrophy-hypothyroidism syndrome False False False -GARD:8275 Keratolytic winter erythema False False False -GARD:8282 Hereditary amyloidosis with primary renal involvement False False False -GARD:8283 Diamond-blackfan anemia 2 False False False -GARD:8295 Isolated complex III deficiency False False False -GARD:83 Autosomal dominant Kenny-Caffey syndrome False False False -GARD:8309 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome False False False -GARD:8310 Steinert myotonic dystrophy False False False -GARD:8312 Pseudo-von Willebrand disease False False False -GARD:8317 Dendritic cell tumor False False False -GARD:8329 Atelosteogenesis type II False False False -GARD:8331 Mohr-Tranebjaerg syndrome False False False -GARD:8333 Athabaskan brainstem dysgenesis syndrome False False False -GARD:8334 Amish nemaline myopathy False False False -GARD:8337 IgG4-related mediastinitis False False False -GARD:8338 PHACE syndrome False False False -GARD:8341 Marinesco-Sjögren syndrome False False False -GARD:8343 Spondylometaphyseal dysplasia, Golden type False False False -GARD:8344 ABri amyloidosis False False False -GARD:8345 Quebec platelet disorder False False False -GARD:8349 Hypomaturation amelogenesis imperfecta False False False -GARD:835 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome False False False -GARD:836 Epilepsy-microcephaly-skeletal dysplasia syndrome False False False -GARD:8360 X-linked intellectual disability-retinitis pigmentosa syndrome False False False -GARD:8367 Autosomal recessive Kenny-Caffey syndrome False False False -GARD:8370 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type False False False -GARD:8378 Autosomal recessive polycystic kidney disease False False False -GARD:838 Bazex-Dupré-Christol syndrome False False False -GARD:8380 Generalized arterial calcification of infancy False False False -GARD:8387 3-hydroxy-3-methylglutaric aciduria False False False -GARD:8391 Ornithine transcarbamylase deficiency False False False -GARD:8397 Brain demyelination due to methionine adenosyltransferase deficiency False False False -GARD:84 Lipodystrophy, congenital generalized, type 1 False False False -GARD:8406 Spermatogenic failure, x-linked, 1 False False False -GARD:8407 Feingold syndrome False False False -GARD:8410 Postaxial acrofacial dysostosis False False False -GARD:8414 Van der Woude syndrome False False False -GARD:8416 Focal facial dermal dysplasia False False False -GARD:8417 Renal cell carcinoma 4 False False False -GARD:8419 Isolated optic nerve hypoplasia/aplasia False False False -GARD:842 Ankylosing vertebral hyperostosis with tylosis False False False -GARD:8421 Tetrasomy 12p False False False -GARD:8422 Peters plus syndrome False False False -GARD:8423 Richards-Rundle syndrome False False False -GARD:8424 Iminoglycinuria False False False -GARD:8426 Thyroid hypoplasia False False False -GARD:8427 Immunodeficiency by defective expression of MHC class I False False False -GARD:8428 Crane-Heise syndrome False False False -GARD:8432 Native American myopathy False False False -GARD:8433 King-Denborough syndrome False False False -GARD:8435 Persistent Müllerian duct syndrome False False False -GARD:8436 Frontotemporal dementia False False False -GARD:8438 Isolated anterior cervical hypertrichosis False False False -GARD:844 Myotonia congenita, autosomal recessive False False False -GARD:8449 Keutel syndrome False False False -GARD:8457 Tumor necrosis factor receptor 1 associated periodic syndrome False False False -GARD:846 Beemer-Ertbruggen syndrome False False False -GARD:8466 Autoimmune polyendocrinopathy type 1 False False False -GARD:8468 Melanoma and neural system tumor syndrome False False False -GARD:8471 X-linked recessive ocular albinism False False False -GARD:8472 Muckle-Wells syndrome False False False -GARD:8476 Leber plus disease False False False -GARD:8479 Familial multiple discoid fibromas False False False -GARD:848 Behçet disease False False False -GARD:8480 Autosomal recessive cutis laxa type 1 False False False -GARD:8485 Acropectoral syndrome False False False -GARD:8486 Musculocontractural Ehlers-Danlos syndrome False False False -GARD:8487 Infantile digital fibromatosis False False False -GARD:8488 Familial papillary or follicular thyroid carcinoma False False False -GARD:8491 Meningioma, radiation-induced False False False -GARD:8495 African iron overload False False False -GARD:8497 Usher syndrome, type iic False False False -GARD:85 Thanatophoric dysplasia False False False -GARD:8501 White sponge nevus False False False -GARD:8505 X-linked Ehlers-Danlos syndrome False False False -GARD:8507 Classical-like Ehlers-Danlos syndrome type 1 False False False -GARD:8509 AREDYLD syndrome False False False -GARD:8517 Huriez syndrome False False False -GARD:8520 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome False False False -GARD:8521 Infantile-onset X-linked spinal muscular atrophy False False False -GARD:8526 Diffuse panbronchiolitis False False False -GARD:8527 Pulmonary venoocclusive disease 2, autosomal recessive False False False -GARD:8528 HELLP syndrome False False False -GARD:8529 Macrodactyly of fingers False False False -GARD:853 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome False False False -GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation False False False -GARD:8531 3mc syndrome 3 False False False -GARD:8532 Attenuated familial adenomatous polyposis False False False -GARD:8533 Hereditary nonpolyposis colon cancer False False False -GARD:8535 Congenital central hypoventilation syndrome False False False -GARD:8538 46,XY disorder of sex development False False False -GARD:8539 Urocanic aciduria False False False -GARD:8541 Primary progressive aphasia False False False -GARD:8542 Chondrodysplasia punctata False False False -GARD:8547 Gitelman syndrome False False False -GARD:8548 Charcot-Marie-Tooth disease type 2B1 False False False -GARD:8549 Moebius syndrome False False False -GARD:8550 Dermatopathia pigmentosa reticularis False False False -GARD:8553 Infantile convulsions and choreoathetosis False False False -GARD:8555 Dense deposit disease False False False -GARD:8557 Intellectual developmental disorder, x-linked 14 False False False -GARD:8559 Wilms tumor 2 False False False -GARD:856 Seizures, benign familial infantile, 1 False False False -GARD:8562 Seckel syndrome False False False -GARD:8563 Primary orthostatic tremor False False False -GARD:857 Benign familial infantile epilepsy False False False -GARD:8570 Steroid-responsive encephalopathy associated with autoimmune thyroiditis False False False -GARD:8573 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 False False False -GARD:8574 Dysferlin-related limb-girdle muscular dystrophy R2 False False False -GARD:8577 Panuveitis False False False -GARD:8578 Parkinson disease 3, autosomal dominant False False False -GARD:8580 Vitamin K antagonist embryofetopathy False False False -GARD:8583 Isolated hereditary congenital facial paralysis False False False -GARD:8585 Cantú syndrome False False False -GARD:8586 Cardiocranial syndrome, Pfeiffer type False False False -GARD:8588 Hypercholesterolemia, familial, 2 False False False -GARD:8591 X-linked visceral heterotaxy 1 False False False -GARD:8592 Spinal muscular atrophy with respiratory distress type 1 False False False -GARD:8593 Morgagni-Stewart-Morel syndrome False False False -GARD:8595 Ataxia with vitamin E deficiency False False False -GARD:8598 Gastrointestinal stromal tumor False False False -GARD:86 Chudley-McCullough syndrome False False False -GARD:860 Cryptorchidism-arachnodactyly-intellectual disability syndrome False False False -GARD:8600 Saldino-Mainzer syndrome False False False -GARD:8605 Acquired angioedema False False False -GARD:8606 Amish lethal microcephaly False False False -GARD:8609 Idiopathic pulmonary fibrosis False False False -GARD:8610 Harlequin syndrome False False False -GARD:8614 Sickle cell anemia False False False -GARD:8616 Systemic mastocytosis False False False -GARD:8618 Primary myelofibrosis False False False -GARD:8621 Uveal melanoma False False False -GARD:8622 Good syndrome False False False -GARD:8623 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome False False False -GARD:8625 Reticular dysgenesis False False False -GARD:8631 Monosomy 18p False False False -GARD:8638 Acute leukemia of ambiguous lineage False False False -GARD:8639 Acute disseminated encephalomyelitis False False False -GARD:8640 Acute zonal occult outer retinopathy False False False -GARD:8644 Congenital alveolar capillary dysplasia False False False -GARD:8653 Erythema elevatum diutinum False False False -GARD:8659 Fibular hemimelia False False False -GARD:8660 Gerstmann syndrome False False False -GARD:8661 Gastroschisis False False False -GARD:8663 Auriculoosteodysplasia False False False -GARD:867 Chronic beryllium disease False False False -GARD:8672 Kleefstra syndrome False False False -GARD:8683 Crigler-Najjar syndrome type 2 False False False -GARD:8686 Autoimmune lymphoproliferative syndrome False False False -GARD:8689 Severe immune-mediated enteropathy False False False -GARD:869 Beta-mannosidosis False False False -GARD:8692 Whooping cough False False False -GARD:8694 Osteogenesis imperfecta type 1 False False False -GARD:8695 Osteogenesis imperfecta type 3 False False False -GARD:8696 Osteogenesis imperfecta type 4 False False False -GARD:8698 Gnathodiaphyseal dysplasia False False False -GARD:8699 Osteogenesis imperfecta type 5 False False False -GARD:87 Microphthalmia, Lenz type False False False -GARD:8700 Osteogenesis imperfecta, type vi False False False -GARD:8701 Osteogenesis imperfecta, type vii False False False -GARD:8702 Atypical hemolytic uremic syndrome False False False -GARD:8703 Primary angiitis of the central nervous system False False False -GARD:8707 Tibial hemimelia False False False -GARD:8709 Patella aplasia/hypoplasia False False False -GARD:871 Beta-thalassemia False False False -GARD:8711 Spheroid body myopathy False False False -GARD:8713 Achondrogenesis type 2 False False False -GARD:8717 Odontochondrodysplasia False False False -GARD:8719 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome False False False -GARD:872 Beta-ketothiolase deficiency False False False -GARD:8720 Axial spondylometaphyseal dysplasia False False False -GARD:8721 Paroxysmal kinesigenic dyskinesia False False False -GARD:8722 Paroxysmal non-kinesigenic dyskinesia False False False -GARD:8723 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality False False False -GARD:873 Bethlem myopathy False False False -GARD:8732 Hemophilia B False False False -GARD:8735 Childhood-onset hypophosphatasia False False False -GARD:8737 Idiopathic hypersomnia False False False -GARD:8743 Meckel syndrome, type 2 False False False -GARD:8744 Meckel syndrome, type 3 False False False -GARD:8754 Greenberg dysplasia False False False -GARD:8755 Arrhinia-choanal atresia-microphthalmia syndrome False False False -GARD:8756 Lethal ataxia with deafness and optic atrophy False False False -GARD:8757 Pleuropulmonary blastoma False False False -GARD:8759 Ocular cicatricial pemphigoid False False False -GARD:88 Leri pleonosteosis False False False -GARD:882 Biemond syndrome type 2 False False False -GARD:884 Bifid nose False False False -GARD:893 Fallot complex-intellectual disability-growth delay syndrome False False False -GARD:894 Biotinidase deficiency False False False -GARD:895 Microcephalic primordial dwarfism, Montreal type False False False -GARD:897 Hypertelorism-microtia-facial clefting syndrome False False False -GARD:905 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome False False False -GARD:9118 Primary Fanconi renotubular syndrome False False False -GARD:9119 Pulmonary agenesis False False False -GARD:912 Blepharoptosis-myopia-ectopia lentis syndrome False False False -GARD:9124 Treacher-Collins syndrome False False False -GARD:9125 Treacher collins syndrome 3 False False False -GARD:9126 Agnathia-holoprosencephaly-situs inversus syndrome False False False -GARD:9128 Idiopathic inflammatory myopathy False False False -GARD:9138 Congenital muscular dystrophy False False False -GARD:914 Blomstrand lethal chondrodysplasia False False False -GARD:9142 Eosinophilic gastroenteritis False False False -GARD:9145 Renal pseudohypoaldosteronism type 1 False False False -GARD:9146 Cardiofaciocutaneous syndrome False False False -GARD:9149 Retinitis pigmentosa 1 False False False -GARD:915 Bloom syndrome False False False -GARD:9151 3-methylcrotonyl-coa carboxylase 2 deficiency False False False -GARD:9152 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency False False False -GARD:9156 Syndromic X-linked intellectual disability 7 False False False -GARD:9157 X-linked intellectual disability, Abidi type False False False -GARD:9158 Brody myopathy False False False -GARD:9159 46,xy sex reversal 2 False False False -GARD:916 Blount disease False False False -GARD:9161 Alpha-N-acetylgalactosaminidase deficiency type 2 False False False -GARD:9163 Roifman syndrome False False False -GARD:9164 Rippling muscle disease False False False -GARD:9165 Rippling muscle disease 1 False False False -GARD:9166 Deafness, autosomal dominant 24 False False False -GARD:9167 Deafness, autosomal dominant 22 False False False -GARD:9168 Familial expansile osteolysis False False False -GARD:9169 ADan amyloidosis False False False -GARD:917 Blue cone monochromatism False False False -GARD:9170 Hypotrichosis simplex False False False -GARD:9172 Palmoplantar keratoderma i, striate, focal, or diffuse False False False -GARD:9173 Keratosis palmoplantaris striata iii False False False -GARD:9174 Kufor-Rakeb syndrome False False False -GARD:9175 Parkinsonian-pyramidal syndrome False False False -GARD:9176 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome False False False -GARD:9177 Lethal congenital contracture syndrome type 2 False False False -GARD:9178 MEHMO syndrome False False False -GARD:9179 North Carolina macular dystrophy False False False -GARD:918 Brachymorphism-onychodysplasia-dysphalangism syndrome False False False -GARD:9180 Primary membranous glomerulonephritis False False False -GARD:9181 Familial abdominal aortic aneurysm False False False -GARD:9182 Okihiro syndrome False False False -GARD:9184 Progressive pseudorheumatoid arthropathy of childhood False False False -GARD:9185 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency False False False -GARD:9189 Charcot-Marie-Tooth disease type 1D False False False -GARD:9190 Charcot-Marie-Tooth disease type 1E False False False -GARD:9191 Charcot-Marie-Tooth disease type 1F False False False -GARD:9192 Autosomal dominant Charcot-Marie-Tooth disease type 2B False False False -GARD:9193 Autosomal dominant Charcot-Marie-Tooth disease type 2E False False False -GARD:9194 Autosomal dominant Charcot-Marie-Tooth disease type 2F False False False -GARD:9195 Autosomal dominant Charcot-Marie-Tooth disease type 2G False False False -GARD:9196 Charcot-Marie-Tooth disease type 2H False False False -GARD:9197 Autosomal dominant Charcot-Marie-Tooth disease type 2I False False False -GARD:9198 Autosomal dominant Charcot-Marie-Tooth disease type 2J False False False -GARD:9199 Autosomal dominant Charcot-Marie-Tooth disease type 2K False False False -GARD:92 Mal de Meleda False False False -GARD:9200 Charcot-Marie-Tooth disease type 4B2 False False False -GARD:9201 Charcot-Marie-Tooth disease type 4C False False False -GARD:9203 Charcot-Marie-Tooth disease type 4E False False False -GARD:9204 Dejerine-Sottas syndrome False False False -GARD:9206 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F False False False -GARD:9207 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D False False False -GARD:9208 Hereditary motor and sensory neuropathy type 5 False False False -GARD:9210 Thiamine-responsive megaloblastic anemia syndrome False False False -GARD:9212 Phocomelia, Schinzel type False False False -GARD:9217 Lymphedema-cerebral arteriovenous anomaly syndrome False False False -GARD:922 Bone dysplasia, lethal Holmgren type False False False -GARD:9225 Tarsal-carpal coalition syndrome False False False -GARD:9228 Renal agenesis False False False -GARD:9232 Arnold-Chiari malformation type II False False False -GARD:9233 Arnold-Chiari malformation type I False False False -GARD:9237 Severe acute respiratory syndrome False False False -GARD:9239 Parkinson-dementia complex of Guam False False False -GARD:9242 Familial advanced sleep-phase syndrome False False False -GARD:9247 Primary effusion lymphoma False False False -GARD:9252 Tubulointerstitial nephritis and uveitis syndrome False False False -GARD:9255 Early infantile epileptic encephalopathy False False False -GARD:9257 SUNCT syndrome False False False -GARD:9258 Perineural cyst False False False -GARD:9265 Classic glucose transporter type 1 deficiency syndrome False False False -GARD:9266 Cutaneous neuroendocrine carcinoma False False False -GARD:9268 Glomerulopathy with fibronectin deposits 1 False False False -GARD:9275 Thiel-Behnke corneal dystrophy False False False -GARD:9276 Reis-Bücklers corneal dystrophy False False False -GARD:9277 Schnyder corneal dystrophy False False False -GARD:9278 Granular corneal dystrophy type II False False False -GARD:9279 Formiminoglutamic aciduria False False False -GARD:9280 Cholestasis-pigmentary retinopathy-cleft palate syndrome False False False -GARD:9281 Familial atypical multiple mole melanoma syndrome False False False -GARD:9282 White platelet syndrome False False False -GARD:9283 Ataxia-oculomotor apraxia type 1 False False False -GARD:9285 Amoebic keratitis False False False -GARD:9287 Atelosteogenesis type I False False False -GARD:9288 X-linked intellectual disability, Schimke type False False False -GARD:9292 Microphthalmia-brain atrophy syndrome False False False -GARD:9294 Timothy syndrome False False False -GARD:9295 Thanatophoric dysplasia type 1 False False False -GARD:9296 Autosomal recessive spastic paraplegia type 24 False False False -GARD:9297 WHIM syndrome False False False -GARD:9298 Pyridoxine-dependent epilepsy False False False -GARD:9299 Acute ackee fruit intoxication False False False -GARD:93 Monilethrix False False False -GARD:9304 Cholangiocarcinoma False False False -GARD:9316 Neuroendocrine neoplasm False False False -GARD:9318 Primary central nervous system lymphoma False False False -GARD:9319 Myeloproliferative neoplasm False False False -GARD:932 Böök syndrome False False False -GARD:9325 Extragonadal germ cell tumor False False False -GARD:933 Boomerang dysplasia False False False -GARD:9330 Malignant germ cell tumor of ovary False False False -GARD:9331 Pediatric hepatocellular carcinoma False False False -GARD:9344 Small cell lung cancer False False False -GARD:9348 Vaginal carcinoma False False False -GARD:9349 Vulvar carcinoma False False False -GARD:9351 Myelodysplastic/myeloproliferative disease False False False -GARD:936 Borjeson-Forssman-Lehmann syndrome False False False -GARD:9362 Malignant epithelial tumor of ovary False False False -GARD:9363 Borderline epithelial tumor of ovary False False False -GARD:9364 Rare tumor of pancreas False False False -GARD:9366 Malignant tumor of penis False False False -GARD:9369 Pineoblastoma False False False -GARD:9371 Pituitary carcinoma False False False -GARD:9373 Plasma cell leukemia False False False -GARD:9376 Upper tract urothelial carcinoma False False False -GARD:938 Tricho-retino-dento-digital syndrome False False False -GARD:94 Mucolipidosis type IV False False False -GARD:9400 Tako-Tsubo cardiomyopathy False False False -GARD:9404 Phyllodes tumor of the prostate False False False -GARD:9412 X-linked cerebral adrenoleukodystrophy False False False -GARD:9418 Cochleosaccular degeneration-cataract syndrome False False False -GARD:942 Diphyllobothriasis False False False -GARD:9420 Pierson syndrome False False False -GARD:9428 Thyroid carcinoma, hurthle cell False False False -GARD:9429 Rhizomelic chondrodysplasia punctata type 2 False False False -GARD:943 Botulism False False False -GARD:9430 Congenital thrombotic thrombocytopenic purpura False False False -GARD:9433 Organic aciduria False False False -GARD:9435 Hermansky-pudlak syndrome 2 False False False -GARD:944 Ataxia-hypogonadism-choroidal dystrophy syndrome False False False -GARD:9441 Temple-Baraitser syndrome False False False -GARD:9442 Glycogen storage disease due to glycogen debranching enzyme deficiency False False False -GARD:9443 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome False False False -GARD:9444 Marburg hemorrhagic fever False False False -GARD:9447 Infantile neuronal ceroid lipofuscinosis False False False -GARD:9448 Camptodactyly of fingers False False False -GARD:9449 Waterhouse-Friderichsen syndrome False False False -GARD:9450 Familial juvenile hypertrophy of the breast False False False -GARD:9452 Pilomatrixoma False False False -GARD:9453 Andersen-Tawil syndrome False False False -GARD:9455 Joubert syndrome with oculorenal defect False False False -GARD:9456 X-linked sideroblastic anemia False False False -GARD:9457 Isolated polycystic liver disease False False False -GARD:9458 Loeys-dietz syndrome 1 False False False -GARD:9463 Pseudodiastrophic dysplasia False False False -GARD:9465 Alzheimer disease, familial, 1 False False False -GARD:9472 Anaplastic oligodendroglioma False False False -GARD:9474 Melorheostosis False False False -GARD:9479 Vitamin B12-responsive methylmalonic acidemia type cblB False False False -GARD:9481 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis False False False -GARD:9484 Superficial siderosis False False False -GARD:9485 Glaucoma 1, open angle, a False False False -GARD:9486 Isolated congenital anosmia False False False -GARD:9487 Cyprus facial-neuromusculoskeletal syndrome False False False -GARD:9489 Isolated congenital breast hypoplasia/aplasia False False False -GARD:9491 Leber congenital amaurosis 9 False False False -GARD:9492 Cataract 35 False False False -GARD:9493 GNE myopathy False False False -GARD:9494 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome False False False -GARD:9495 Amelogenesis imperfecta, hypomaturation type, iia1 False False False -GARD:9496 Hereditary renal hypouricemia False False False -GARD:9499 Aceruloplasminemia False False False -GARD:95 Mulibrey nanism False False False -GARD:9501 Hereditary geniospasm False False False -GARD:9504 Porokeratosis 4, disseminated superficial actinic type False False False -GARD:9505 Porokeratosis 3, multiple types False False False -GARD:9506 Craniosynostosis-anal anomalies-porokeratosis syndrome False False False -GARD:9508 Cerulean cataract False False False -GARD:9509 Renpenning syndrome False False False -GARD:9511 Histiocytoid cardiomyopathy False False False -GARD:9514 Phyllodes tumor of the breast False False False -GARD:9517 Bilateral multicystic dysplastic kidney False False False -GARD:9525 Coccidioidomycosis False False False -GARD:9528 Cyclosporosis False False False -GARD:953 Congenital bowing of long bones False False False -GARD:9534 Chronic Epstein-Barr virus infection syndrome False False False -GARD:9535 Familial cold urticaria False False False -GARD:9546 Melioidosis False False False -GARD:955 Branchioskeletogenital syndrome False False False -GARD:9550 Variant Creutzfeldt-Jakob disease False False False -GARD:9553 Post-transplant lymphoproliferative disease False False False -GARD:9557 Rat-bite fever False False False -GARD:9558 Autosomal dominant severe congenital neutropenia False False False -GARD:9560 Bacterial toxic-shock syndrome False False False -GARD:9564 Typhoid False False False -GARD:9568 IgG4-related retroperitoneal fibrosis False False False -GARD:9569 Dermatofibrosarcoma protuberans False False False -GARD:957 SPECC1L-related hypertelorism syndrome False False False -GARD:9571 Hereditary clear cell renal cell carcinoma False False False -GARD:9572 Papillary renal cell carcinoma False False False -GARD:9573 Collecting duct carcinoma False False False -GARD:9574 Clear cell renal carcinoma False False False -GARD:9578 Acute fatty liver of pregnancy False False False -GARD:958 Aymé-Gripp syndrome False False False -GARD:9581 Autosomal recessive spastic paraplegia type 15 False False False -GARD:9582 Autosomal recessive spastic paraplegia type 25 False False False -GARD:9583 Autosomal dominant spastic paraplegia type 9A False False False -GARD:9585 X-linked spastic paraplegia type 16 False False False -GARD:9586 Autosomal dominant spastic paraplegia type 12 False False False -GARD:9587 Autosomal recessive spastic paraplegia type 26 False False False -GARD:9588 Autosomal dominant spastic paraplegia type 19 False False False -GARD:9589 Autosomal recessive spastic paraplegia type 14 False False False -GARD:9590 Autosomal dominant spastic paraplegia type 10 False False False -GARD:9591 Autosomal dominant spastic paraplegia type 8 False False False -GARD:9595 Congenital atransferrinemia False False False -GARD:9598 Basal ganglia calcification, idiopathic, childhood-onset False False False -GARD:960 Brachydactylous dwarfism, Mseleni type False False False -GARD:9602 Familial paroxysmal ataxia False False False -GARD:9611 Spinocerebellar ataxia type 13 False False False -GARD:9615 Giant cell arteritis False False False -GARD:9616 Autosomal dominant spastic paraplegia type 13 False False False -GARD:9620 Acute erythroid leukemia False False False -GARD:9621 Polyembryoma False False False -GARD:9626 Axenfeld-rieger syndrome, type 3 False False False -GARD:9628 Rapid-onset dystonia-parkinsonism False False False -GARD:9630 Primary dystonia, DYT6 type False False False -GARD:9631 Torsion dystonia with onset in infancy False False False -GARD:9632 Odontoleukodystrophy False False False -GARD:9633 Fundus dystrophy, pseudoinflammatory, recessive form False False False -GARD:9634 Fetal akinesia deformation sequence False False False -GARD:9635 Pruritic urticarial papules and plaques of pregnancy False False False -GARD:9640 Autosomal agammaglobulinemia False False False -GARD:9642 Parkinson disease 2, autosomal recessive juvenile False False False -GARD:9643 Pseudoxanthoma elasticum False False False -GARD:9647 Gelatinous drop-like corneal dystrophy False False False -GARD:9649 Achromatopsia 2 False False False -GARD:9650 Achromatopsia 3 False False False -GARD:9652 Oncogenic osteomalacia False False False -GARD:9654 Hydroa vacciniforme False False False -GARD:9657 Anauxetic dysplasia False False False -GARD:9659 Bartter syndrome type 3 False False False -GARD:966 Brachydactyly-elbow wrist dysplasia syndrome False False False -GARD:9661 Leber congenital amaurosis 3 False False False -GARD:9662 Leber congenital amaurosis 4 False False False -GARD:9665 Gynandroblastoma False False False -GARD:967 Brachydactyly-arterial hypertension syndrome False False False -GARD:9670 Congenital factor XI deficiency False False False -GARD:9673 Mowat-Wilson syndrome False False False -GARD:9675 Isotretinoin-like syndrome False False False -GARD:9676 Miyoshi myopathy False False False -GARD:9677 Granular corneal dystrophy type I False False False -GARD:9678 Lattice corneal dystrophy type I False False False -GARD:9679 Temtamy preaxial brachydactyly syndrome False False False -GARD:968 Brachydactyly-long thumb syndrome False False False -GARD:9681 RHYNS syndrome False False False -GARD:9682 Rhizomelic chondrodysplasia punctata type 3 False False False -GARD:9683 Chylomicron retention disease False False False -GARD:9684 Sandifer syndrome False False False -GARD:9687 Schistosomiasis False False False -GARD:9688 Meesmann corneal dystrophy False False False -GARD:9689 Myasthenic syndrome, congenital, 6, presynaptic False False False -GARD:9690 Kienbock disease False False False -GARD:9692 Congenital patella dislocation False False False -GARD:9694 Junctional epidermolysis bullosa with pyloric atresia False False False -GARD:9696 Ring dermoid of cornea False False False -GARD:9697 Monomelic amyotrophy False False False -GARD:9698 Recombinant 8 syndrome False False False -GARD:9701 Spinal intradural arachnoid cysts False False False -GARD:9703 Spondylocostal dysostosis 2, autosomal recessive False False False -GARD:9704 X-linked intellectual disability, Siderius type False False False -GARD:9705 Ectodermal dysplasia-skin fragility syndrome False False False -GARD:9706 Snowflake vitreoretinal degeneration False False False -GARD:9707 Familial cylindromatosis False False False -GARD:971 Brachydactyly-nystagmus-cerebellar ataxia syndrome False False False -GARD:9711 Lathosterolosis False False False -GARD:9715 Griscelli syndrome type 3 False False False -GARD:972 Brachydactyly-preaxial hallux varus syndrome False False False -GARD:9723 Ectodermal dysplasia-sensorineural deafness syndrome False False False -GARD:9725 Nephrogenic systemic fibrosis False False False -GARD:9726 Deafness, autosomal dominant 17 False False False -GARD:9728 Proximal myotonic myopathy False False False -GARD:9729 Autosomal dominant spastic paraplegia type 29 False False False -GARD:9730 Glycogen storage disease due to LAMP-2 deficiency False False False -GARD:9732 Epithelial basement membrane dystrophy False False False -GARD:9733 Ichthyosis, congenital, autosomal recessive 4a False False False -GARD:9734 Ichthyosis, congenital, autosomal recessive 5 False False False -GARD:9736 Congenital non-bullous ichthyosiform erythroderma False False False -GARD:9737 Epidermolysis bullosa simplex with mottled pigmentation False False False -GARD:9740 Familial atrial fibrillation False False False -GARD:9741 Neurological conditions associated with aminoacylase 1 deficiency False False False -GARD:9742 Ankylostomiasis False False False -GARD:9744 Atrophoderma vermiculata False False False -GARD:9748 Systemic sclerosis False False False -GARD:9749 Limited systemic sclerosis False False False -GARD:9751 Diffuse cutaneous systemic sclerosis False False False -GARD:9755 Infantile nephropathic cystinosis False False False -GARD:9756 Ocular cystinosis False False False -GARD:9758 Familial hypocalciuric hypercalcemia type 2 False False False -GARD:9759 Leukonychia totalis False False False -GARD:9761 Isolated congenital onychodysplasia False False False -GARD:9762 Potocki-Shaffer syndrome False False False -GARD:9766 Morvan syndrome False False False -GARD:9767 Necrotizing enterocolitis False False False -GARD:9769 Oligoastrocytoma False False False -GARD:9775 Dowling-Degos disease False False False -GARD:9778 CANOMAD syndrome False False False -GARD:978 Brachydactyly type A1 False False False -GARD:9781 Proximal Xq28 duplication syndrome False False False -GARD:9787 Parkes Weber syndrome False False False -GARD:9789 Rare lymphatic malformation False False False -GARD:979 Brachydactyly type A2 False False False -GARD:9791 Epiphyseal dysplasia, multiple, 2 False False False -GARD:9792 Epiphyseal dysplasia, multiple, 3 False False False -GARD:9793 Multiple epiphyseal dysplasia type 4 False False False -GARD:9794 Multiple epiphyseal dysplasia type 5 False False False -GARD:9795 Naxos disease False False False -GARD:9796 Autoimmune lymphoproliferative syndrome with recurrent viral infections False False False -GARD:9797 Dianzani autoimmune lymphoproliferative disease False False False -GARD:9798 Auriculocondylar syndrome False False False -GARD:9799 Familial cutaneous collagenoma False False False -GARD:9802 Progressive familial intrahepatic cholestasis type 1 False False False -GARD:9803 Progressive familial intrahepatic cholestasis type 4 False False False -GARD:9804 Intrahepatic cholestasis of pregnancy False False False -GARD:9806 Vibratory urticaria False False False -GARD:9808 Pilocytic astrocytoma False False False -GARD:9809 Enteropathy-associated T-cell lymphoma False False False -GARD:9810 Dyssegmental dysplasia, Rolland-Desbuquois type False False False -GARD:9811 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome False False False -GARD:9812 T-cell large granular lymphocyte leukemia False False False -GARD:9813 Congenital bile acid synthesis defect type 1 False False False -GARD:9814 Tukel syndrome False False False -GARD:9817 Autosomal dominant dopa-responsive dystonia False False False -GARD:9818 Developmental malformations-deafness-dystonia syndrome False False False -GARD:9820 Catastrophic antiphospholipid syndrome False False False -GARD:9821 Pattern dystrophy False False False -GARD:9826 PMM2-CDG False False False -GARD:9827 ALG3-CDG False False False -GARD:9828 MGAT2-CDG False False False -GARD:9829 ALG6-CDG False False False -GARD:983 Brachydactyly type A6 False False False -GARD:9830 MPI-CDG False False False -GARD:9831 DPM1-CDG False False False -GARD:9832 MPDU1-CDG False False False -GARD:9833 ALG12-CDG False False False -GARD:9834 ALG8-CDG False False False -GARD:9835 Emanuel syndrome False False False -GARD:9836 ALG2-CDG False False False -GARD:9837 DPAGT1-CDG False False False -GARD:9838 ALG1-CDG False False False -GARD:9839 ALG9-CDG False False False -GARD:984 Brachydactyly type A7 False False False -GARD:9841 B4GALT1-CDG False False False -GARD:9842 COG7-CDG False False False -GARD:9843 Primary familial polycythemia False False False -GARD:9844 Microcephalic osteodysplastic primordial dwarfism type II False False False -GARD:9846 Heart-hand syndrome, Slovenian type False False False -GARD:9847 Heart-hand syndrome type 2 False False False -GARD:9848 Congenital brain dysgenesis due to glutamine synthetase deficiency False False False -GARD:9849 Goldberg-Shprintzen megacolon syndrome False False False -GARD:985 Brachydactyly type B False False False -GARD:9850 Omphalocele syndrome, Shprintzen-Goldberg type False False False -GARD:986 Brachydactyly type C False False False -GARD:9863 Synostoses, tarsal, carpal, and digital False False False -GARD:9866 Spondyloepimetaphyseal dysplasia with multiple dislocations False False False -GARD:9867 Spinocerebellar ataxia type 14 False False False -GARD:987 Brachydactyly type E False False False -GARD:9870 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency False False False -GARD:9873 Lateral meningocele syndrome False False False -GARD:9874 Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia False False False -GARD:9876 Aortic aneurysm, familial thoracic 4 False False False -GARD:9879 Fibular aplasia-complex brachydactyly syndrome False False False -GARD:9882 Hyperandrogenism due to cortisone reductase deficiency False False False -GARD:9884 Juvenile myelomonocytic leukemia False False False -GARD:9885 Noonan syndrome 3 False False False -GARD:9886 Ichthyosis-prematurity syndrome False False False -GARD:9887 Benign concentric annular macular dystrophy False False False -GARD:9888 Pyruvate dehydrogenase phosphatase deficiency False False False -GARD:9890 Autosomal dominant optic atrophy, classic form False False False -GARD:9892 Cataract 18 False False False -GARD:9895 Myasthenic syndrome, congenital, 2a, slow-channel False False False -GARD:9898 Posterior column ataxia-retinitis pigmentosa syndrome False False False -GARD:990 Brachydactyly type A4 False False False -GARD:9900 Congenital pulmonary lymphangiectasia False False False -GARD:9901 Telangiectasia, hereditary hemorrhagic, type 2 False False False -GARD:9902 Telangiectasia, hereditary hemorrhagic, type 3 False False False -GARD:9903 Polysyndactyly False False False -GARD:9904 Osteosclerosis-ichthyosis-premature ovarian failure syndrome False False False -GARD:9905 Lynch syndrome False False False -GARD:9907 Amyopathic dermatomyositis False False False -GARD:9909 Arthrogryposis, distal, type 2b1 False False False -GARD:9910 Lethal acantholytic erosive disorder False False False -GARD:9911 Fibromatosis, gingival, 3 False False False -GARD:9912 Lennox-Gastaut syndrome False False False -GARD:9914 Glomerulopathy with fibronectin deposits 2 False False False -GARD:9916 Multiple synostoses syndrome 2 False False False -GARD:9918 Deafness, autosomal recessive 51 False False False -GARD:9919 Deafness, autosomal recessive 55 False False False -GARD:992 Oculoosteocutaneous syndrome False False False -GARD:9920 Mitochondrial neurogastrointestinal encephalomyopathy False False False -GARD:9921 Nasu-Hakola disease False False False -GARD:9922 Hemophagocytic lymphohistiocytosis, familial, 2 False False False -GARD:9928 Hemophagocytic lymphohistiocytosis, familial, 3 False False False -GARD:9929 Hemophagocytic lymphohistiocytosis, familial, 4 False False False -GARD:9931 Hyperinsulinism-hyperammonemia syndrome False False False -GARD:9932 Exercise-induced hyperinsulinism False False False -GARD:9933 Deafness, autosomal dominant 3a False False False -GARD:9934 Deafness, autosomal dominant 53 False False False -GARD:9935 Deafness, autosomal recessive 47 False False False -GARD:9936 Hypohidrotic ectodermal dysplasia with immunodeficiency False False False -GARD:9937 Myopia 6 False False False -GARD:994 Spondyloepiphyseal dysplasia, Maroteaux type False False False -GARD:9940 CEDNIK syndrome False False False -GARD:9941 Facioscapulohumeral dystrophy False False False -GARD:9943 Amelogenesis imperfecta, type ie False False False -GARD:9944 Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 False False False -GARD:9947 X-linked intellectual disability-cerebellar hypoplasia syndrome False False False -GARD:995 Brachyolmia type 1, hobaek type False False False -GARD:9950 Spinocerebellar ataxia type 23 False False False -GARD:9951 Spinocerebellar ataxia type 28 False False False -GARD:9952 Congenital primary aphakia False False False -GARD:9953 Oligodendroglioma False False False -GARD:9959 West-Nile encephalitis False False False -GARD:9963 Spinocerebellar ataxia type 27 False False False -GARD:9964 Glycogen storage disease due to phosphoglycerate mutase deficiency False False False -GARD:9965 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency False False False -GARD:9966 Duane retraction syndrome 2 False False False -GARD:9970 Spinocerebellar ataxia type 4 False False False -GARD:9971 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome False False False -GARD:9975 Spinocerebellar ataxia type 31 False False False -GARD:9976 Spinocerebellar ataxia type 18 False False False -GARD:9977 CAMOS syndrome False False False -GARD:998 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome False False False -GARD:9980 X-linked spinocerebellar ataxia type 4 False False False -GARD:9981 X-linked spinocerebellar ataxia type 3 False False False -GARD:9983 Leber congenital amaurosis 5 False False False -GARD:9984 X-linked intellectual disability, Miles-Carpenter type False False False -GARD:9987 Severe combined immunodeficiency due to DCLRE1C deficiency False False False -GARD:9989 Mandibuloacral dysplasia with type B lipodystrophy False False False -GARD:9991 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome False False False -GARD:9993 Riboflavin transporter deficiency False False False -GARD:9994 Clark-Baraitser syndrome False False False -GARD:9995 Spinocerebellar ataxia type 26 False False False -GARD:9996 Spinocerebellar ataxia type 25 False False False -GARD:9997 Spinocerebellar ataxia type 20 False False False -GARD:9998 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome False False False -GARD:9999 Spinocerebellar ataxia type 21 False False False diff --git a/src/ontology/reports/gard_term_exclusions.txt b/src/ontology/reports/gard_term_exclusions.txt deleted file mode 100644 index e69de29b..00000000 diff --git a/src/ontology/reports/gard_unmapped_terms.tsv b/src/ontology/reports/gard_unmapped_terms.tsv deleted file mode 100644 index 82ff75f1..00000000 --- a/src/ontology/reports/gard_unmapped_terms.tsv +++ /dev/null @@ -1,12005 +0,0 @@ -subject_id subject_label -GARD:17280 10q22.3q23.3 microdeletion syndrome -GARD:21052 10q22.3q23.3 microduplication syndrome -GARD:21232 11p15.4 microduplication syndrome -GARD:21858 11q22.2q22.3 microdeletion syndrome -GARD:17414 12p12.1 microdeletion syndrome -GARD:13390 12q14 microdeletion syndrome -GARD:21141 12q15q21.1 microdeletion syndrome -GARD:21737 13q12.3 microdeletion syndrome -GARD:17241 14q11.2 microdeletion syndrome -GARD:20773 14q11.2 microduplication syndrome -GARD:2384 14q22q23 microdeletion syndrome -GARD:21706 14q24.1q24.3 microdeletion syndrome -GARD:17890 14q32 duplication syndrome -GARD:17423 15q overgrowth syndrome -GARD:10525 15q11.2 microdeletion syndrome -GARD:17172 15q11q13 microduplication syndrome -GARD:10296 15q13.3 microdeletion syndrome -GARD:17242 15q14 microdeletion syndrome -GARD:12219 15q24 microdeletion syndrome -GARD:17243 16p11.2p12.2 microdeletion syndrome -GARD:20772 16p11.2p12.2 microduplication syndrome -GARD:21993 16p12.1p12.3 triplication syndrome -GARD:20774 16p13.11 microdeletion syndrome -GARD:20775 16p13.11 microduplication syndrome -GARD:17920 16p13.2 microdeletion syndrome -GARD:10755 16p13.3 microduplication syndrome -GARD:21523 16q24.1 microdeletion syndrome -GARD:10935 16q24.3 microdeletion syndrome -GARD:10145 17p11.2 microduplication syndrome -GARD:17122 17p13.3 microduplication syndrome -GARD:5408 17q11 microdeletion syndrome -GARD:16952 17q11.2 microduplication syndrome -GARD:13297 17q12 microdeletion syndrome -GARD:13296 17q12 microduplication syndrome -GARD:17576 17q21.31 microdeletion syndrome -GARD:17121 17q21.31 microduplication syndrome -GARD:10936 17q23.1q23.2 microdeletion syndrome -GARD:22202 17q24.2 microdeletion syndrome -GARD:10991 19p13.12 microdeletion syndrome -GARD:17542 19p13.13 microdeletion syndrome -GARD:21875 19p13.3 microduplication syndrome -GARD:10592 19q13.11 microdeletion syndrome -GARD:21173 1p21.3 microdeletion syndrome -GARD:17668 1p31p32 microdeletion syndrome -GARD:21898 1p35.2 microdeletion syndrome -GARD:6082 1p36 deletion syndrome -GARD:10813 1q21.1 microdeletion syndrome -GARD:10591 1q21.1 microduplication syndrome -GARD:3738 1q41q42 microdeletion syndrome -GARD:10943 1q44 microdeletion syndrome -GARD:16708 2-aminoadipic 2-oxoadipic aciduria -GARD:10761 2-hydroxyglutaric aciduria -GARD:10322 2-methylbutyryl-CoA dehydrogenase deficiency -GARD:12492 20p12.3 microdeletion syndrome -GARD:21360 20p13 microdeletion syndrome -GARD:21859 20q11.2 microdeletion syndrome -GARD:21556 20q11.2 microduplication syndrome -GARD:20778 20q13.33 microdeletion syndrome -GARD:20779 21q22.11q22.12 microdeletion syndrome -GARD:10299 22q11.2 deletion syndrome -GARD:10557 22q11.2 duplication syndrome -GARD:21557 2p13.2 microdeletion syndrome -GARD:13391 2p15p16.1 microdeletion syndrome -GARD:16999 2p21 microdeletion syndrome -GARD:21581 2p21 microdeletion syndrome without cystinuria -GARD:10998 2q23.1 microdeletion syndrome -GARD:21363 2q23.1 microduplication syndrome -GARD:3746 2q24 microdeletion syndrome -GARD:20690 2q31.1 microdeletion syndrome -GARD:13206 2q32q33 microdeletion syndrome -GARD:10202 2q37 microdeletion syndrome -GARD:8387 3-hydroxy-3-methylglutaric aciduria -GARD:2712 3-hydroxy-3-methylglutaryl-CoA synthase deficiency -GARD:21319 3-hydroxyacyl-CoA dehydrogenase deficiency -GARD:5662 3-hydroxyisobutyric aciduria -GARD:10954 3-methylcrotonyl-CoA carboxylase deficiency -GARD:5665 3-methylcrotonyl-coa carboxylase 1 deficiency -GARD:9151 3-methylcrotonyl-coa carboxylase 2 deficiency -GARD:12966 3-methylglutaconic aciduria -GARD:10321 3-methylglutaconic aciduria type 1 -GARD:5663 3-methylglutaconic aciduria type 3 -GARD:10342 3-methylglutaconic aciduria type 4 -GARD:17767 3-methylglutaconic aciduria type 7 -GARD:22050 3-methylglutaconic aciduria type 8 -GARD:17940 3-methylglutaconic aciduria type 9 -GARD:16718 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form -GARD:16717 3-phosphoserine phosphatase deficiency, infantile/juvenile form -GARD:5666 3C syndrome -GARD:5667 3M syndrome -GARD:1118 3MC syndrome -GARD:4049 3mc syndrome 1 -GARD:18428 3mc syndrome 2 -GARD:8531 3mc syndrome 3 -GARD:21813 3p25.3 microdeletion syndrome -GARD:16573 3q13 microdeletion syndrome -GARD:19311 3q26 microduplication syndrome -GARD:21534 3q26q27 microdeletion syndrome -GARD:21633 3q27.3 microdeletion syndrome -GARD:11974 3q29 microdeletion syndrome -GARD:10360 3q29 microduplication syndrome -GARD:18747 45,X/46,XY mixed gonadal dysgenesis -GARD:21463 46,XX disorder of gonadal development -GARD:18783 46,XX disorder of sex development -GARD:19409 46,XX disorder of sex development induced by androgens excess -GARD:21465 46,XX disorder of sex development induced by endogenous maternal-derived androgen -GARD:21466 46,XX disorder of sex development induced by exogenous maternal-derived androgen -GARD:19148 46,XX disorder of sex development induced by fetal androgens excess -GARD:21464 46,XX disorder of sex development induced by fetoplacental androgens excess -GARD:19156 46,XX disorder of sex development induced by maternal-derived androgen -GARD:18782 46,XX disorder of sex development-anorectal anomalies syndrome -GARD:16617 46,XX disorder of sex development-skeletal anomalies syndrome -GARD:5671 46,XX gonadal dysgenesis -GARD:17760 46,XX ovarian dysgenesis-short stature syndrome -GARD:16585 46,XX ovotesticular disorder of sex development -GARD:399 46,XX testicular disorder of sex development -GARD:5068 46,XY complete gonadal dysgenesis -GARD:21468 46,XY disorder of gonadal development -GARD:8538 46,XY disorder of sex development -GARD:5659 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency -GARD:5680 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency -GARD:21472 46,XY disorder of sex development due to a cholesterol synthesis defect -GARD:19410 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue -GARD:19149 46,XY disorder of sex development due to a testosterone synthesis defect -GARD:19150 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect -GARD:21471 46,XY disorder of sex development due to impaired androgen production -GARD:16794 46,XY disorder of sex development due to isolated 17,20-lyase deficiency -GARD:17752 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency -GARD:19151 46,XY disorder of sex development due to testicular steroidogenesis defect -GARD:21475 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors -GARD:21470 46,XY disorder of sex development of endocrine origin -GARD:21478 46,XY disorder of sex development of gynecological interest -GARD:17033 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency -GARD:21848 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect -GARD:17034 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome -GARD:21469 46,XY ovotesticular disorder of sex development -GARD:17211 46,XY partial gonadal dysgenesis -GARD:15249 46,xx sex reversal 2 -GARD:15267 46,xx sex reversal 3 -GARD:16109 46,xy sex reversal 10 -GARD:9159 46,xy sex reversal 2 -GARD:15598 46,xy sex reversal 3 -GARD:15083 46,xy sex reversal 4 -GARD:15611 46,xy sex reversal 5 -GARD:15703 46,xy sex reversal 6 -GARD:15174 46,xy sex reversal 7 -GARD:18361 46,xy sex reversal 9 -GARD:5674 47,XYY syndrome -GARD:5676 48,XXXY syndrome -GARD:5677 48,XXYY syndrome -GARD:11985 48,XYYY syndrome -GARD:5679 49,XXXXY syndrome -GARD:10922 49,XXXYY syndrome -GARD:19679 49,XYYYY syndrome -GARD:21140 4H leukodystrophy -GARD:19306 4p16.3 microduplication syndrome -GARD:17181 4q21 microdeletion syndrome -GARD:22048 4q25 proximal deletion syndrome -GARD:20509 5-fluorouracil poisoning -GARD:5681 5-oxoprolinase deficiency -GARD:17505 5p13 microduplication syndrome -GARD:12166 5q14.3 microdeletion syndrome -GARD:20595 5q35 microduplication syndrome -GARD:16897 6-phosphogluconate dehydrogenase deficiency -GARD:5682 6-pyruvoyl-tetrahydropterin synthase deficiency -GARD:20691 6p22 microdeletion syndrome -GARD:18931 6q terminal deletion syndrome -GARD:20126 6q16 microdeletion syndrome -GARD:3764 6q25 microdeletion syndrome -GARD:21367 7p22.1 microduplication syndrome -GARD:12076 7q11.23 microduplication syndrome -GARD:20692 7q31 microdeletion syndrome -GARD:19309 8p inverted duplication/deletion syndrome -GARD:20693 8p11.2 deletion syndrome -GARD:10304 8p23.1 duplication syndrome -GARD:3769 8p23.1 microdeletion syndrome -GARD:12816 8q12 microduplication syndrome -GARD:17310 8q21.11 microdeletion syndrome -GARD:4722 8q22.1 microdeletion syndrome -GARD:12814 8q24.3 microdeletion syndrome -GARD:21437 9p13 microdeletion syndrome -GARD:22212 9q21.13 microdeletion syndrome -GARD:21705 9q31.1q31.3 microdeletion syndrome -GARD:22009 9q33.3q34.11 microdeletion syndrome -GARD:10560 AA amyloidosis -GARD:19224 AApoAI amyloidosis -GARD:20631 AApoAII amyloidosis -GARD:21828 AApoAIV amyloidosis -GARD:17493 ABeta amyloidosis, Arctic type -GARD:16929 ABeta amyloidosis, Dutch type -GARD:17490 ABeta amyloidosis, Iowa type -GARD:17491 ABeta amyloidosis, Italian type -GARD:21829 ABeta2M amyloidosis -GARD:17492 ABetaA21G amyloidosis -GARD:17489 ABetaL34V amyloidosis -GARD:8344 ABri amyloidosis -GARD:19699 ACTH-dependent Cushing syndrome -GARD:19700 ACTH-independent Cushing syndrome -GARD:21856 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor -GARD:16930 ACys amyloidosis -GARD:12931 ADNP syndrome -GARD:384 ADULT syndrome -GARD:9169 ADan amyloidosis -GARD:19226 AFib amyloidosis -GARD:2339 AGel amyloidosis -GARD:21847 AH amyloidosis -GARD:13409 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome -GARD:13781 AICA-ribosiduria -GARD:19122 AIDS wasting syndrome -GARD:12599 AKT2-related familial partial lipodystrophy -GARD:5797 AL amyloidosis -GARD:16638 ALDH18A1-related De Barsy syndrome -GARD:21827 ALECT2 amyloidosis -GARD:9838 ALG1-CDG -GARD:12396 ALG11-CDG -GARD:9833 ALG12-CDG -GARD:12401 ALG13-CDG -GARD:9836 ALG2-CDG -GARD:9827 ALG3-CDG -GARD:9829 ALG6-CDG -GARD:9834 ALG8-CDG -GARD:9839 ALG9-CDG -GARD:21252 ALK-negative anaplastic large cell lymphoma -GARD:21251 ALK-positive anaplastic large cell lymphoma -GARD:21564 ALK-positive large B-cell lymphoma -GARD:22400 ALPI-related inflammatory bowel disease -GARD:19225 ALys amyloidosis -GARD:16987 ANE syndrome -GARD:17541 ANK3-related intellectual disability-sleep disturbance syndrome -GARD:17197 APC-related attenuated familial adenomatous polyposis -GARD:8509 AREDYLD syndrome -GARD:21753 ARX-related encephalopathy-brain malformation spectrum -GARD:20241 ARX-related epileptic encephalopathy -GARD:17427 ATP13A2-related juvenile neuronal ceroid lipofuscinosis -GARD:22077 ATP13A2-related parkinsonism -GARD:16755 ATTRV122I amyloidosis -GARD:16754 ATTRV30M amyloidosis -GARD:15002 AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY -GARD:21703 AXIN2-related attenuated familial adenomatous polyposis -GARD:15029 Aarskog syndrome, autosomal dominant -GARD:4775 Aarskog-Scott syndrome -GARD:5642 Aase-Smith syndrome -GARD:15127 Abetalipoproteinemia -GARD:5 Abetalipoproteinemia -GARD:3 Ablepharon macrostomia syndrome -GARD:19644 Abnormal number of coronary ostia -GARD:4586 Abnormal origin of right or left pulmonary artery from the aorta -GARD:18717 Abnormal origin of the pulmonary artery -GARD:360 Abruzzo-Erickson syndrome -GARD:16593 Absence deformity of leg-cataract syndrome -GARD:2336 Absence of fingerprints-congenital milia syndrome -GARD:19655 Absence of innominate vein -GARD:18712 Absence of the pulmonary artery -GARD:20185 Absence of uterine body -GARD:4633 Absent radius-anogenital anomalies syndrome -GARD:16615 Absent thumb-short stature-immunodeficiency syndrome -GARD:5210 Absent tibia-polydactyly-arachnoid cyst syndrome -GARD:361 Acalvaria -GARD:5485 Acanthokeratolytic verrucous nevus -GARD:453 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome -GARD:363 Acatalasemia -GARD:19628 Accessory mitral valve tissue -GARD:454 Accessory pancreas -GARD:19264 Accessory tricuspid valve tissue -GARD:9499 Aceruloplasminemia -GARD:16906 Acetazolamide-responsive myotonia -GARD:455 Achalasia, familial esophageal -GARD:456 Achalasia-microcephaly syndrome -GARD:21196 Acheiria -GARD:376 Acheiropodia -GARD:2882 Achondrogenesis -GARD:459 Achondrogenesis type 1A -GARD:460 Achondrogenesis type 1B -GARD:8713 Achondrogenesis type 2 -GARD:8173 Achondroplasia -GARD:15015 Achromatopsia -GARD:9649 Achromatopsia 2 -GARD:9650 Achromatopsia 3 -GARD:15723 Achromatopsia 4 -GARD:16129 Achromatopsia 7 -GARD:22457 Acid sphingomyelinase deficiency -GARD:21777 Acinar cell carcinoma of pancreas -GARD:18827 Acitretin/etretinate embryopathy -GARD:17788 Acquired Creutzfeldt-Jakob disease -GARD:20418 Acquired amyloid peripheral neuropathy -GARD:19114 Acquired aneurysmal subarachnoid hemorrhage -GARD:8605 Acquired angioedema -GARD:19748 Acquired angioedema type 1 -GARD:19747 Acquired angioedema type 2 -GARD:22196 Acquired angioedema with C1Inh deficiency -GARD:20656 Acquired ataxia -GARD:19291 Acquired central diabetes insipidus -GARD:19805 Acquired chronic primary adrenal insufficiency -GARD:20586 Acquired cutis laxa -GARD:21722 Acquired cystic disease-associated renal cell carcinoma -GARD:20575 Acquired dermis elastic tissue disorder -GARD:20576 Acquired dermis elastic tissue disorder with decreased elastic tissue -GARD:20577 Acquired dermis elastic tissue disorder with increased elastic tissue -GARD:22408 Acquired factor V deficiency -GARD:22409 Acquired factor VII deficiency -GARD:22410 Acquired factor X deficiency -GARD:22411 Acquired factor XI deficiency -GARD:22412 Acquired factor XIII deficiency -GARD:12603 Acquired generalized lipodystrophy -GARD:20027 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease -GARD:6405 Acquired hemophilia A -GARD:22407 Acquired hemophilia B -GARD:22328 Acquired human prion disease -GARD:2864 Acquired hypertrichosis lanuginosa -GARD:476 Acquired ichthyosis -GARD:8249 Acquired idiopathic sideroblastic anemia -GARD:21359 Acquired immunodeficiency -GARD:18826 Acquired kinky hair syndrome -GARD:12602 Acquired lipodystrophy -GARD:21930 Acquired methemoglobinemia -GARD:19154 Acquired monoclonal Ig light chain-associated Fanconi syndrome -GARD:19479 Acquired motor neuron disease -GARD:19474 Acquired neuromuscular junction disease -GARD:20167 Acquired neutropenia -GARD:10509 Acquired partial lipodystrophy -GARD:20543 Acquired peripheral movement disorder -GARD:20243 Acquired peripheral neuropathy -GARD:19278 Acquired pituitary hormone deficiency -GARD:21386 Acquired porencephaly -GARD:19293 Acquired premature ovarian failure -GARD:475 Acquired prothrombin deficiency -GARD:20581 Acquired pseudoxanthoma elasticum -GARD:18838 Acquired purpura fulminans -GARD:17879 Acquired schizencephaly -GARD:20636 Acquired secondary polycythemia -GARD:20412 Acquired sensory ganglionopathy -GARD:20359 Acquired skeletal muscle disease -GARD:5573 Acquired von Willebrand syndrome -GARD:12863 Acral peeling skin syndrome -GARD:19140 Acral persistent papular mucinosis -GARD:21108 Acral self-healing collodion baby -GARD:480 Acro-renal-mandibular syndrome -GARD:16551 Acro-renal-ocular syndrome -GARD:5721 Acrocallosal syndrome -GARD:10605 Acrocapitofemoral dysplasia -GARD:1167 Acrocardiofacial syndrome -GARD:2096 Acrocephalopolydactyly -GARD:3075 Acrocraniofacial dysostosis -GARD:20052 Acrodermatitis continua of Hallopeau -GARD:5723 Acrodermatitis enteropathica -GARD:5724 Acrodysostosis -GARD:15030 Acrodysostosis 1 with or without hormone resistance -GARD:15823 Acrodysostosis 2 with or without hormone resistance -GARD:17300 Acrodysostosis with multiple hormone resistance -GARD:491 Acrodysplasia scoliosis -GARD:21574 Acrofacial dysostosis -GARD:494 Acrofacial dysostosis, Catania type -GARD:18859 Acrofacial dysostosis, Kennedy-Teebi type -GARD:499 Acrofacial dysostosis, Palagonia type -GARD:496 Acrofacial dysostosis, Rodríguez type -GARD:497 Acrofacial dysostosis, Weyers type -GARD:16117 Acrofacial dysostosis, cincinnati type -GARD:484 Acrofrontofacionasal dysostosis -GARD:6543 Acrogeria -GARD:18987 Acrokeratoderma -GARD:125 Acrokeratoelastoidosis of Costa -GARD:16707 Acrokeratosis verruciformis of Hopf -GARD:5725 Acromegaly -GARD:4500 Acromelanosis -GARD:19194 Acromelic dysplasia -GARD:5539 Acromelic frontonasal dysplasia -GARD:6 Acromesomelic dysplasia -GARD:1300 Acromesomelic dysplasia, Grebe type -GARD:506 Acromesomelic dysplasia, Hunter-Thompson type -GARD:507 Acromesomelic dysplasia, Maroteaux type -GARD:7 Acromicric dysplasia -GARD:15031 Acroosteolysis -GARD:4276 Acroosteolysis-keloid-like lesions-premature aging syndrome -GARD:4559 Acrootoocular syndrome -GARD:8485 Acropectoral syndrome -GARD:512 Acropectorovertebral dysplasia -GARD:514 Acrorenal syndrome -GARD:15130 Acrorenal syndrome, autosomal recessive -GARD:16034 Acth-independent macronodular adrenal hyperplasia 2 -GARD:12673 Actinic lichen planus -GARD:17510 Actinic prurigo -GARD:5728 Actinomycosis -GARD:17000 Action myoclonus-renal failure syndrome -GARD:11983 Activated PI3K-delta syndrome -GARD:9299 Acute ackee fruit intoxication -GARD:19257 Acute adrenal insufficiency -GARD:20386 Acute and subacute inflammatory demyelinating polyneuropathy -GARD:21121 Acute annular outer retinopathy -GARD:19071 Acute basophilic leukemia -GARD:22197 Acute bilirubin encephalopathy -GARD:8639 Acute disseminated encephalomyelitis -GARD:22378 Acute disseminated encephalomyelitis with anti-MOG antibodies -GARD:22379 Acute disseminated encephalomyelitis without anti-MOG antibodies -GARD:21552 Acute encephalopathy with biphasic seizures and late reduced diffusion -GARD:21553 Acute encephalopathy with inflammation-mediated status epilepticus -GARD:21059 Acute endophthalmitis -GARD:9620 Acute erythroid leukemia -GARD:9578 Acute fatty liver of pregnancy -GARD:13142 Acute flaccid myelitis -GARD:21164 Acute generalized exanthematous pustulosis -GARD:6544 Acute graft versus host disease -GARD:19255 Acute hepatic porphyria -GARD:10593 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins -GARD:17833 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome -GARD:13114 Acute infantile liver failure-multisystemic involvement syndrome -GARD:16873 Acute inflammatory demyelinating polyradiculoneuropathy -GARD:5732 Acute intermittent porphyria -GARD:12835 Acute interstitial pneumonia -GARD:8638 Acute leukemia of ambiguous lineage -GARD:19112 Acute liver failure -GARD:20146 Acute lung injury -GARD:522 Acute lymphoblastic leukemia -GARD:22000 Acute macular neuroretinopathy -GARD:22276 Acute mast cell leukemia -GARD:524 Acute megakaryoblastic leukemia -GARD:19697 Acute megakaryoblastic leukemia in Down syndrome -GARD:21490 Acute megakaryoblastic leukemia without Down syndrome -GARD:525 Acute monoblastic/monocytic leukemia -GARD:19601 Acute motor and sensory axonal neuropathy -GARD:19602 Acute motor axonal neuropathy -GARD:527 Acute myeloblastic leukemia with maturation -GARD:526 Acute myeloblastic leukemia without maturation -GARD:12761 Acute myeloid leukaemia with myelodysplasia-related features -GARD:12757 Acute myeloid leukemia -GARD:19835 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent -GARD:20057 Acute myeloid leukemia and myelodysplastic syndromes related to radiation -GARD:19836 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor -GARD:19587 Acute myeloid leukemia with 11q23 abnormalities -GARD:17451 Acute myeloid leukemia with CEBPA somatic mutations -GARD:21713 Acute myeloid leukemia with NPM1 somatic mutations -GARD:536 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) -GARD:12759 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) -GARD:19588 Acute myeloid leukemia with minimal differentiation -GARD:12758 Acute myeloid leukemia with recurrent genetic anomaly -GARD:21710 Acute myeloid leukemia with t(6;9)(p23;q34) -GARD:21588 Acute myeloid leukemia with t(8;16)(p11;p13) translocation -GARD:19837 Acute myeloid leukemia with t(8;21)(q22;q22) translocation -GARD:21711 Acute myeloid leukemia with t(9;11)(p22;q23) -GARD:22340 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) -GARD:529 Acute myelomonocytic leukemia -GARD:17257 Acute necrotizing encephalopathy of childhood -GARD:20659 Acute neonatal citrullinemia type I -GARD:18817 Acute opioid poisoning -GARD:20617 Acute pandysautonomia -GARD:11907 Acute panmyelosis with myelofibrosis -GARD:19113 Acute peripheral arterial occlusion -GARD:18830 Acute poisoning by drugs with membrane-stabilizing effect -GARD:538 Acute promyelocytic leukemia -GARD:20616 Acute pure sensory neuropathy -GARD:21896 Acute radiation syndrome -GARD:18035 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate -GARD:12927 Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma -GARD:20618 Acute sensory ataxic neuropathy -GARD:19913 Acute transverse myelitis -GARD:22375 Acute transverse myelitis with anti-MOG antibodies -GARD:18829 Acute tricyclic antidepressant poisoning -GARD:16863 Acute undifferentiated leukemia -GARD:8640 Acute zonal occult outer retinopathy -GARD:12986 Acyl-CoA dehydrogenase 9 deficiency -GARD:21318 Acyl-CoA dehydrogenase deficiency -GARD:16660 Adamantinoma -GARD:5739 Adams-Oliver syndrome -GARD:15775 Adams-oliver syndrome 2 -GARD:15842 Adams-oliver syndrome 3 -GARD:15941 Adams-oliver syndrome 4 -GARD:16049 Adams-oliver syndrome 5 -GARD:16142 Adams-oliver syndrome 6 -GARD:5740 Addison disease -GARD:10277 Adducted thumbs-arthrogryposis syndrome, Christian type -GARD:546 Adenine phosphoribosyltransferase deficiency -GARD:20466 Adenocarcinoma of ovary -GARD:21773 Adenocarcinoma of the anal canal -GARD:20488 Adenocarcinoma of the cervix uteri -GARD:16927 Adenocarcinoma of the esophagus -GARD:21791 Adenocarcinoma of the gallbladder and extrahepatic biliary tract -GARD:21787 Adenocarcinoma of the liver and intrahepatic biliary tract -GARD:21638 Adenocarcinoma of the penis -GARD:19851 Adenocarcinoma of the small intestine -GARD:19284 Adenohypophysitis -GARD:20499 Adenoid basal carcinoma of the cervix uteri -GARD:20498 Adenoid cystic carcinoma of the cervix uteri -GARD:4204 Adenoma of pancreas -GARD:20492 Adenosarcoma of the cervix uteri -GARD:20473 Adenosarcoma of the corpus uteri -GARD:547 Adenosine monophosphate deaminase deficiency -GARD:19153 Adenovirus infection in immunocompromised patients -GARD:550 Adenylosuccinate lyase deficiency -GARD:17878 Adenylosuccinate synthetase-like 1-related distal myopathy -GARD:5750 Adiposis dolorosa -GARD:19438 Adolescent-onset epilepsy syndrome -GARD:22385 Adrenal hypoplasia congenita -GARD:15131 Adrenal hypoplasia, cytomegalic type -GARD:19765 Adrenal/paraganglial tumor -GARD:558 Adrenocortical carcinoma -GARD:20621 Adrenocortical carcinoma with pure aldosterone hypersecretion -GARD:15132 Adrenocortical carcinoma, hereditary -GARD:15033 Adrenocortical hypofunction, chronic primary congenital -GARD:15133 Adrenocortical unresponsiveness to acth with postreceptor defect -GARD:20226 Adrenogenital syndrome -GARD:10614 Adrenomyeloneuropathy -GARD:562 Adrenomyodystrophy -GARD:20345 Adult Krabbe disease -GARD:19076 Adult T-cell leukemia/lymphoma -GARD:18902 Adult acute respiratory distress syndrome -GARD:18777 Adult familial nephronophthisis-spastic quadriparesia syndrome -GARD:6608 Adult hepatocellular carcinoma -GARD:17193 Adult hypophosphatasia -GARD:16605 Adult idiopathic neutropenia -GARD:20152 Adult intestinal botulism -GARD:10973 Adult neuronal ceroid lipofuscinosis -GARD:108 Adult polyglucosan body disease -GARD:22364 Adult-onset Steinert myotonic dystrophy -GARD:436 Adult-onset Still disease -GARD:10587 Adult-onset autosomal dominant leukodystrophy -GARD:17314 Adult-onset autosomal recessive cerebellar ataxia -GARD:17235 Adult-onset autosomal recessive sideroblastic anemia -GARD:17694 Adult-onset cervical dystonia, DYT23 type -GARD:17503 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy -GARD:20660 Adult-onset citrullinemia type I -GARD:21492 Adult-onset distal myopathy due to VCP mutation -GARD:12568 Adult-onset dystonia-parkinsonism -GARD:10909 Adult-onset foveomacular vitelliform dystrophy -GARD:11992 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies -GARD:17501 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency -GARD:21623 Adult-onset myasthenia gravis -GARD:12824 Adult-onset nemaline myopathy -GARD:15368 Advanced sleep phase syndrome, familial, 1 -GARD:15922 Advanced sleep phase syndrome, familial, 2 -GARD:16165 Advanced sleep phase syndrome, familial, 3 -GARD:8495 African iron overload -GARD:19781 African tick typhus -GARD:7826 African trypanosomiasis -GARD:20320 Agammaglobulinemia -GARD:15672 Agammaglobulinemia 2, autosomal recessive -GARD:15673 Agammaglobulinemia 3, autosomal recessive -GARD:15674 Agammaglobulinemia 4, autosomal recessive -GARD:15675 Agammaglobulinemia 5, autosomal dominant -GARD:15579 Agammaglobulinemia 6, autosomal recessive -GARD:15918 Agammaglobulinemia 7, autosomal recessive -GARD:16171 Agammaglobulinemia 8a, autosomal dominant -GARD:10011 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome -GARD:19657 Agenesis of the superior vena cava -GARD:21576 Aggrecan-related bone disorder -GARD:21245 Aggressive B-cell non-Hodgkin lymphoma -GARD:10493 Aggressive NK-cell leukemia -GARD:20163 Aggressive primary cutaneous B-cell lymphoma -GARD:20162 Aggressive primary cutaneous T-cell lymphoma -GARD:19597 Aggressive systemic mastocytosis -GARD:9126 Agnathia-holoprosencephaly-situs inversus syndrome -GARD:5764 Aicardi syndrome -GARD:575 Aicardi-Goutières syndrome -GARD:15167 Aicardi-goutieres syndrome 1 -GARD:15472 Aicardi-goutieres syndrome 2 -GARD:15479 Aicardi-goutieres syndrome 3 -GARD:15480 Aicardi-goutieres syndrome 4 -GARD:10151 Aicardi-goutieres syndrome 5 -GARD:15894 Aicardi-goutieres syndrome 6 -GARD:16021 Aicardi-goutieres syndrome 7 -GARD:12404 Alacrima, achalasia, and mental retardation syndrome -GARD:18165 Alacrima, congenital, autosomal dominant -GARD:18166 Alacrima, congenital, autosomal recessive -GARD:12315 Alacrimia-choreoathetosis-liver dysfunction syndrome -GARD:804 Alagille syndrome -GARD:17250 Alagille syndrome due to 20p12 microdeletion -GARD:17251 Alagille syndrome due to a JAG1 point mutation -GARD:17252 Alagille syndrome due to a NOTCH2 point mutation -GARD:588 Alar cartilages hypoplasia-coloboma-telecanthus syndrome -GARD:17468 Alazami syndrome -GARD:383 Albers-Schönberg osteopetrosis -GARD:589 Albinism-deafness syndrome -GARD:5774 Alexander disease -GARD:17572 Alexander disease type I -GARD:17573 Alexander disease type II -GARD:17936 Alkaline ceramidase 3 deficiency -GARD:5775 Alkaptonuria -GARD:5617 Allan-Herndon-Dudley syndrome -GARD:602 Allergic bronchopulmonary aspergillosis -GARD:15034 Allergic bronchopulmonary aspergillosis, familial -GARD:16831 Alobar holoprosencephaly -GARD:18995 Alopecia -GARD:18713 Alopecia antibody deficiency -GARD:15035 Alopecia areata 1 -GARD:15496 Alopecia areata 2 -GARD:613 Alopecia totalis -GARD:614 Alopecia universalis -GARD:15135 Alopecia universalis congenita -GARD:1470 Alopecia, congenital -GARD:605 Alopecia-contractures-dwarfism-intellectual disability syndrome -GARD:607 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome -GARD:612 Alopecia-intellectual disability syndrome -GARD:4291 Alopecia-intellectual disability syndrome 2 -GARD:15730 Alopecia-intellectual disability syndrome 3 -GARD:16386 Alopecia-intellectual disability syndrome 4 -GARD:16553 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome -GARD:5783 Alpers-Huttenlocher syndrome -GARD:5034 Alpha delta granule deficiency -GARD:19469 Alpha granule disease -GARD:5784 Alpha-1-antitrypsin deficiency -GARD:17651 Alpha-B crystallin-related late-onset myopathy -GARD:16621 Alpha-N-acetylgalactosaminidase deficiency -GARD:116 Alpha-N-acetylgalactosaminidase deficiency type 1 -GARD:9161 Alpha-N-acetylgalactosaminidase deficiency type 2 -GARD:3903 Alpha-N-acetylgalactosaminidase deficiency type 3 -GARD:19600 Alpha-crystallinopathy -GARD:12541 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 -GARD:19742 Alpha-heavy chain disease -GARD:6968 Alpha-mannosidosis -GARD:17408 Alpha-mannosidosis, adult form -GARD:17407 Alpha-mannosidosis, infantile form -GARD:15787 Alpha-methylacyl-coa racemase deficiency -GARD:438 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 -GARD:621 Alpha-thalassemia -GARD:21022 Alpha-thalassemia and related disorders -GARD:5864 Alpha-thalassemia-X-linked intellectual disability syndrome -GARD:16862 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 -GARD:17167 Alpha-thalassemia-myelodysplastic syndrome -GARD:5785 Alport syndrome -GARD:16761 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome -GARD:5787 Alström syndrome -GARD:20446 Alternating hemiplegia -GARD:11 Alternating hemiplegia of childhood -GARD:15036 Alternating hemiplegia of childhood 1 -GARD:15845 Alternating hemiplegia of childhood 2 -GARD:207 Alveolar echinococcosis -GARD:4701 Alveolar rhabdomyosarcoma -GARD:5654 Alveolar soft tissue sarcoma -GARD:18544 Alzahrani-kuwahara syndrome -GARD:16514 Alzheimer disease 10 -GARD:16515 Alzheimer disease 11 -GARD:16516 Alzheimer disease 12 -GARD:16517 Alzheimer disease 13 -GARD:16518 Alzheimer disease 14 -GARD:7190 Alzheimer disease 15 -GARD:12799 Alzheimer disease 2 -GARD:16513 Alzheimer disease 3 -GARD:16511 Alzheimer disease 4 -GARD:16507 Alzheimer disease 5 -GARD:16509 Alzheimer disease 6 -GARD:16510 Alzheimer disease 7 -GARD:16512 Alzheimer disease 8 -GARD:16508 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology -GARD:9465 Alzheimer disease, familial, 1 -GARD:637 Amaurosis-hypertrichosis syndrome -GARD:21179 Amelia -GARD:21191 Amelia of lower limb -GARD:21190 Amelia of upper limb -GARD:647 Amelo-onycho-hypohidrotic syndrome -GARD:11855 Ameloblastic carcinoma -GARD:5747 Ameloblastoma -GARD:3128 Amelocerebrohypohidrotic syndrome -GARD:5791 Amelogenesis imperfecta -GARD:9495 Amelogenesis imperfecta, hypomaturation type, iia1 -GARD:15563 Amelogenesis imperfecta, hypomaturation type, iia2 -GARD:15630 Amelogenesis imperfecta, hypomaturation type, iia3 -GARD:15847 Amelogenesis imperfecta, hypomaturation type, iia4 -GARD:16028 Amelogenesis imperfecta, hypomaturation type, iia5 -GARD:16211 Amelogenesis imperfecta, hypomaturation type, iia6 -GARD:9944 Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 -GARD:15038 Amelogenesis imperfecta, type ia -GARD:15037 Amelogenesis imperfecta, type ib -GARD:15136 Amelogenesis imperfecta, type ic -GARD:9943 Amelogenesis imperfecta, type ie -GARD:16076 Amelogenesis imperfecta, type if -GARD:16071 Amelogenesis imperfecta, type ih -GARD:18258 Amelogenesis imperfecta, type iiib -GARD:16220 Amelogenesis imperfecta, type ij -GARD:18795 American trypanosomiasis -GARD:20552 Amino acid or protein metabolism disease with epilepsy -GARD:21304 Aminoacylase deficiency -GARD:2294 Aminopterin/methotrexate embryofetopathy -GARD:8606 Amish lethal microcephaly -GARD:8334 Amish nemaline myopathy -GARD:22448 Amniotic fluid embolism -GARD:18675 Amoebiasis due to Entamoeba histolytica -GARD:12650 Amoebiasis due to free-living amoebae -GARD:9285 Amoebic keratitis -GARD:18676 Amyloidosis -GARD:17466 Amyloidosis cutis dyschromia -GARD:18637 Amyloidosis, primary localized cutaneous, 1 -GARD:18638 Amyloidosis, primary localized cutaneous, 2 -GARD:9907 Amyopathic dermatomyositis -GARD:5786 Amyotrophic lateral sclerosis -GARD:15540 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia -GARD:10496 Amyotrophic lateral sclerosis 11 -GARD:15663 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia -GARD:15269 Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia -GARD:15794 Amyotrophic lateral sclerosis 16, juvenile -GARD:15841 Amyotrophic lateral sclerosis 18 -GARD:15980 Amyotrophic lateral sclerosis 19 -GARD:15137 Amyotrophic lateral sclerosis 2, juvenile -GARD:15964 Amyotrophic lateral sclerosis 20 -GARD:18619 Amyotrophic lateral sclerosis 21 -GARD:16068 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia -GARD:16262 Amyotrophic lateral sclerosis 23 -GARD:16425 Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia -GARD:10501 Amyotrophic lateral sclerosis 3 -GARD:15343 Amyotrophic lateral sclerosis 5, juvenile -GARD:9874 Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia -GARD:10500 Amyotrophic lateral sclerosis 7 -GARD:10499 Amyotrophic lateral sclerosis 8 -GARD:10498 Amyotrophic lateral sclerosis 9 -GARD:10502 Amyotrophic lateral sclerosis type 4 -GARD:15138 Amyotrophic lateral sclerosis with polyglucosan bodies -GARD:16265 Amyotrophic lateral sclerosis, susceptibility to, 24 -GARD:3955 Amyotrophy, hereditary neuralgic -GARD:20568 Anal fistula -GARD:5860 Anaplastic astrocytoma -GARD:10634 Anaplastic ependymoma -GARD:10639 Anaplastic ganglioglioma -GARD:3112 Anaplastic large cell lymphoma -GARD:10637 Anaplastic oligoastrocytoma -GARD:9472 Anaplastic oligodendroglioma -GARD:664 Anaplastic thyroid carcinoma -GARD:20717 Anaplastic/large cell medulloblastoma -GARD:9657 Anauxetic dysplasia -GARD:9453 Andersen-Tawil syndrome -GARD:5803 Androgen insensitivity syndrome -GARD:15994 Anemia, congenital dyserythropoietic, type ib -GARD:18381 Anemia, sideroblastic, 2, pyridoxine-refractory -GARD:18380 Anemia, sideroblastic, 4 -GARD:670 Aneurysm of sinus of Valsalva -GARD:18320 Aneurysm, intracranial berry, 1 -GARD:18328 Aneurysm, intracranial berry, 10 -GARD:18329 Aneurysm, intracranial berry, 11 -GARD:18330 Aneurysm, intracranial berry, 12 -GARD:10033 Aneurysm, intracranial berry, 2 -GARD:18322 Aneurysm, intracranial berry, 3 -GARD:18323 Aneurysm, intracranial berry, 4 -GARD:18321 Aneurysm, intracranial berry, 5 -GARD:18324 Aneurysm, intracranial berry, 6 -GARD:18325 Aneurysm, intracranial berry, 7 -GARD:18326 Aneurysm, intracranial berry, 8 -GARD:18327 Aneurysm, intracranial berry, 9 -GARD:10997 Aneurysm-osteoarthritis syndrome -GARD:21982 Aneurysmal bone cyst -GARD:671 Angel-shaped phalango-epiphyseal dysplasia -GARD:5810 Angelman syndrome -GARD:21732 Angelman syndrome due to a point mutation -GARD:21733 Angelman syndrome due to imprinting defect in 15q11-q13 -GARD:19577 Angelman syndrome due to maternal 15q11q13 deletion -GARD:19578 Angelman syndrome due to paternal uniparental disomy of chromosome 15 -GARD:20714 Angiocentric glioma -GARD:18259 Angioedema induced by ace inhibitors, susceptibility to -GARD:11973 Angioimmunoblastic T-cell lymphoma -GARD:15021 Angioma serpiginosum -GARD:10189 Angioma serpiginosum, autosomal dominant -GARD:10188 Angioma serpiginosum, x-linked -GARD:22303 Angiomatoid fibrous histiocytoma -GARD:3122 Angioosteohypertrophic syndrome -GARD:18927 Angioosteohypotrophic syndrome -GARD:20900 Angiosarcoma -GARD:683 Angiostrongyliasis -GARD:21590 Angora hair nevus -GARD:16681 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome -GARD:16200 Aniridia 2 -GARD:16201 Aniridia 3 -GARD:685 Aniridia-absent patella syndrome -GARD:13 Aniridia-cerebellar ataxia-intellectual disability syndrome -GARD:5530 Aniridia-intellectual disability syndrome -GARD:689 Aniridia-ptosis-intellectual disability-familial obesity syndrome -GARD:690 Aniridia-renal agenesis-psychomotor retardation syndrome -GARD:693 Anisakiasis -GARD:696 Ankyloblepharon filiforme adnatum-cleft palate syndrome -GARD:697 Ankyloblepharon filiforme adnatum-imperforate anus syndrome -GARD:6571 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome -GARD:842 Ankylosing vertebral hyperostosis with tylosis -GARD:9742 Ankylostomiasis -GARD:12676 Annular atrophic lichen planus -GARD:17304 Annular epidermolytic ichthyosis -GARD:12674 Annular lichen planus -GARD:705 Annular pancreas -GARD:12536 Anoctamin-5-related limb-girdle muscular dystrophy R12 -GARD:5818 Anodontia -GARD:22226 Anomalous aortic origin of coronary artery -GARD:22224 Anomalous aortic origin of the left coronary artery -GARD:22225 Anomalous aortic origin of the right coronary artery -GARD:22227 Anomalous origin of coronary artery from the pulmonary artery -GARD:20200 Anomaly of puberty or/and menstrual cycle -GARD:20341 Anomaly of puberty or/and menstrual cycle of genetic origin -GARD:22230 Anomaly of the coronary ostia -GARD:19784 Anomaly of the mitral subvalvular apparatus -GARD:19265 Anomaly of the tricuspid subvalvular apparatus -GARD:16837 Anonychia congenita totalis -GARD:16682 Anonychia with flexural pigmentation -GARD:5123 Anonychia-microcephaly syndrome -GARD:710 Anonychia-onychodystrophy syndrome -GARD:719 Anophthalmia plus syndrome -GARD:717 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome -GARD:1443 Anophthalmia/microphthalmia-esophageal atresia syndrome -GARD:19351 Anorectal malformation -GARD:16835 Anotia -GARD:4570 Antecubital pterygium syndrome -GARD:20143 Antenatal multiminicore disease with arthrogryposis multiplex congenita -GARD:18843 Anterior cutaneous nerve entrapment syndrome -GARD:17997 Anterior maxillary protrusion-strabismus-intellectual disability syndrome -GARD:22084 Anterior segment developmental abnormality with extraocular manifestations -GARD:10025 Anterior segment developmental anomaly -GARD:22167 Anterior segment developmental anomaly of genetic origin -GARD:16484 Anterior segment developmental anomaly without extraocular manifestations -GARD:2978 Anterior segment dysgenesis 3 -GARD:3026 Anterior segment dysgenesis 4 -GARD:21805 Anterior urethral valve -GARD:10941 Anterior uveitis -GARD:730 Anti-HLA hyperimmunization -GARD:2551 Anti-glomerular basement membrane disease -GARD:13011 Anti-neutrophil cytoplasmic antibody-associated vasculitis -GARD:21892 Anti-p200 pemphigoid -GARD:5824 Antiphospholipid syndrome -GARD:735 Antisynthetase syndrome -GARD:5826 Antley-Bixler syndrome -GARD:16665 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis -GARD:22389 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis -GARD:5828 Aorta coarctation -GARD:16491 Aortic aneurysm, familial abdominal, 1 -GARD:16492 Aortic aneurysm, familial abdominal, 2 -GARD:16493 Aortic aneurysm, familial abdominal, 3 -GARD:16494 Aortic aneurysm, familial abdominal, 4 -GARD:15408 Aortic aneurysm, familial thoracic 1 -GARD:16207 Aortic aneurysm, familial thoracic 10 -GARD:15409 Aortic aneurysm, familial thoracic 2 -GARD:9876 Aortic aneurysm, familial thoracic 4 -GARD:15527 Aortic aneurysm, familial thoracic 6 -GARD:15706 Aortic aneurysm, familial thoracic 7 -GARD:15966 Aortic aneurysm, familial thoracic 8 -GARD:16067 Aortic aneurysm, familial thoracic 9 -GARD:739 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome -GARD:741 Aortic arch defects -GARD:740 Aortic arch interruption -GARD:19552 Aortic malformation -GARD:18470 Aortic valve disease 1 -GARD:18471 Aortic valve disease 2 -GARD:19633 Aorto-left ventricular tunnel -GARD:19632 Aorto-right ventricular tunnel -GARD:18798 Aorto-ventricular tunnel -GARD:5833 Apert syndrome -GARD:3051 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome -GARD:748 Aphalangy-syndactyly-microcephaly syndrome -GARD:21443 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome -GARD:5835 Aplasia cutis congenita -GARD:753 Aplasia cutis congenita-intestinal lymphangiectasia syndrome -GARD:756 Aplasia cutis-myopia syndrome -GARD:16759 Aplasia of lacrimal and salivary glands -GARD:20234 Aplastic anemia -GARD:18026 Aplastic anemia-intellectual disability-dwarfism syndrome -GARD:19722 Apnea of prematurity -GARD:21197 Apodia -GARD:2872 Apolipoprotein A-I deficiency -GARD:18076 Apolipoprotein c-iii deficiency -GARD:433 Apparent mineralocorticoid excess -GARD:22281 Aprosencephaly -GARD:4518 Aprosencephaly cerebellar dysgenesis -GARD:22279 Aprosencephaly/atelencephaly spectrum -GARD:12991 Aquagenic palmoplantar keratoderma -GARD:381 Arachnodactyly-abnormal ossification-intellectual disability syndrome -GARD:764 Arachnodactyly-intellectual disability-dysmorphism syndrome -GARD:17 Arachnoid cyst -GARD:5839 Arachnoiditis -GARD:18690 Arbovirus fever -GARD:19778 Aregenerative anemia -GARD:21411 Argentine hemorrhagic fever -GARD:5840 Argininemia -GARD:5843 Argininosuccinic aciduria -GARD:18856 Argyria -GARD:9233 Arnold-Chiari malformation type I -GARD:9232 Arnold-Chiari malformation type II -GARD:365 Aromatase deficiency -GARD:12494 Aromatase excess syndrome -GARD:770 Aromatic L-amino acid decarboxylase deficiency -GARD:8755 Arrhinia-choanal atresia-microphthalmia syndrome -GARD:5847 Arrhythmogenic right ventricular cardiomyopathy -GARD:16577 Arterial dissection-lentiginosis syndrome -GARD:19270 Arterial duct anomaly -GARD:21535 Arterial thoracic outlet syndrome -GARD:774 Arterial tortuosity syndrome -GARD:2084 Arthrochalasia Ehlers-Danlos syndrome -GARD:777 Arthrogryposis multiplex congenita -GARD:18566 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect -GARD:792 Arthrogryposis multiplex congenita-whistling face syndrome -GARD:19870 Arthrogryposis syndrome -GARD:15790 Arthrogryposis, distal, type 1b -GARD:16421 Arthrogryposis, distal, type 1c -GARD:9909 Arthrogryposis, distal, type 2b1 -GARD:16351 Arthrogryposis, distal, type 2b2 -GARD:15139 Arthrogryposis, renal dysfunction, and cholestasis 1 -GARD:15658 Arthrogryposis, renal dysfunction, and cholestasis 2 -GARD:16658 Arthrogryposis-anterior horn cell disease syndrome -GARD:5029 Arthrogryposis-ectodermal dysplasia syndrome -GARD:3053 Arthrogryposis-hyperkeratosis syndrome, lethal form -GARD:784 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome -GARD:4047 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome -GARD:794 Arthrogryposis-renal dysfunction-cholestasis syndrome -GARD:16672 Arthrogryposis-severe scoliosis syndrome -GARD:5852 Asbestos intoxication -GARD:19557 Ascending aorta anomaly -GARD:201 Ascher syndrome -GARD:5853 Asherman syndrome -GARD:5854 Aspartylglucosaminuria -GARD:5856 Aspergillosis -GARD:15752 Aspergillosis, susceptibility to -GARD:19050 Astley-Kendall dysplasia -GARD:10635 Astroblastoma -GARD:12928 Astrocytoma -GARD:20759 Ataxia neuropathy spectrum -GARD:19486 Ataxia with dementia -GARD:8595 Ataxia with vitamin E deficiency -GARD:4644 Ataxia-deafness-intellectual disability syndrome -GARD:944 Ataxia-hypogonadism-choroidal dystrophy syndrome -GARD:17597 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome -GARD:13112 Ataxia-oculomotor apraxia 3 -GARD:9283 Ataxia-oculomotor apraxia type 1 -GARD:13111 Ataxia-oculomotor apraxia type 4 -GARD:3865 Ataxia-pancytopenia syndrome -GARD:2287 Ataxia-photosensitivity-short stature syndrome -GARD:16559 Ataxia-tapetoretinal degeneration syndrome -GARD:5862 Ataxia-telangiectasia -GARD:21597 Ataxia-telangiectasia variant -GARD:15141 Ataxia-telangiectasia with generalized skin pigmentation and early death -GARD:17209 Ataxia-telangiectasia-like disorder -GARD:22280 Atelencephaly -GARD:9287 Atelosteogenesis type I -GARD:8329 Atelosteogenesis type II -GARD:10608 Atelosteogenesis type III -GARD:8333 Athabaskan brainstem dysgenesis syndrome -GARD:2279 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome -GARD:16842 Athyreosis -GARD:3537 Atkin-Flaitz syndrome -GARD:20053 Atopic keratoconjunctivitis -GARD:18274 Atresia of external auditory canal and conductive deafness -GARD:140 Atresia of small intestine -GARD:18678 Atresia of urethra -GARD:19283 Atrial appendage anomaly -GARD:15745 Atrial fibrillation, familial, 10 -GARD:15747 Atrial fibrillation, familial, 11 -GARD:15748 Atrial fibrillation, familial, 12 -GARD:15954 Atrial fibrillation, familial, 13 -GARD:15955 Atrial fibrillation, familial, 14 -GARD:16010 Atrial fibrillation, familial, 15 -GARD:16219 Atrial fibrillation, familial, 18 -GARD:15446 Atrial fibrillation, familial, 2 -GARD:15414 Atrial fibrillation, familial, 3 -GARD:15516 Atrial fibrillation, familial, 4 -GARD:15517 Atrial fibrillation, familial, 5 -GARD:15544 Atrial fibrillation, familial, 6 -GARD:15545 Atrial fibrillation, familial, 7 -GARD:15609 Atrial fibrillation, familial, 8 -GARD:15737 Atrial fibrillation, familial, 9 -GARD:19651 Atrial septal aneurysm -GARD:15755 Atrial septal defect 3 -GARD:15512 Atrial septal defect 4 -GARD:10697 Atrial septal defect, coronary sinus type -GARD:10695 Atrial septal defect, ostium primum type -GARD:5865 Atrial septal defect, ostium secundum type -GARD:10696 Atrial septal defect, sinus venosus type -GARD:16566 Atrial septal defect-atrioventricular conduction defects syndrome -GARD:16564 Atrial standstill -GARD:18611 Atrial standstill 1 -GARD:18612 Atrial standstill 2 -GARD:16762 Atrichia with papular lesions -GARD:2742 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome -GARD:802 Atrioventricular septal defect -GARD:19554 Atrioventricular valve anomaly -GARD:12675 Atrophic lichen planus -GARD:9744 Atrophoderma vermiculata -GARD:21527 Attenuated Chédiak-Higashi syndrome -GARD:8532 Attenuated familial adenomatous polyposis -GARD:22238 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome -GARD:12503 Atypical Gaucher disease due to saposin C deficiency -GARD:21374 Atypical Meigs syndrome -GARD:20782 Atypical Norrie disease due to Xp11.3 microdeletion -GARD:4694 Atypical Rett syndrome -GARD:22382 Atypical Timothy syndrome -GARD:11910 Atypical Werner syndrome -GARD:20336 Atypical autism -GARD:19583 Atypical chronic myeloid leukemia -GARD:18723 Atypical coarctation of aorta -GARD:17433 Atypical dentin dysplasia due to SMOC2 deficiency -GARD:17334 Atypical glycine encephalopathy -GARD:8702 Atypical hemolytic uremic syndrome -GARD:16823 Atypical hemolytic uremic syndrome with anti-factor H antibodies -GARD:17986 Atypical hemolytic uremic syndrome with complement gene abnormality -GARD:17175 Atypical hypotonia-cystinuria syndrome -GARD:17621 Atypical juvenile parkinsonism -GARD:19066 Atypical lichen myxedematosus -GARD:17115 Atypical pantothenate kinase-associated neurodegeneration -GARD:20723 Atypical papilloma of choroid plexus -GARD:4507 Atypical progressive supranuclear palsy syndrome -GARD:16926 Atypical teratoid rhabdoid tumor -GARD:20077 Audiogenic seizures -GARD:18127 Auditory neuropathy, autosomal dominant 1 -GARD:17983 Auditory neuropathy-optic atrophy syndrome -GARD:18275 Aural atresia, congenital -GARD:18933 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome -GARD:9798 Auriculocondylar syndrome -GARD:15346 Auriculocondylar syndrome 1 -GARD:15831 Auriculocondylar syndrome 2 -GARD:16003 Auriculocondylar syndrome 3 -GARD:8663 Auriculoosteodysplasia -GARD:17520 Autism spectrum disorder due to AUTS2 deficiency -GARD:17604 Autism spectrum disorder-epilepsy-arthrogryposis syndrome -GARD:17389 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency -GARD:10303 Autism-facial port-wine stain syndrome -GARD:6481 Autoerythrocyte sensitization syndrome -GARD:19028 Autoimmune bullous skin disease -GARD:21400 Autoimmune disease with skin involvement -GARD:11979 Autoimmune encephalitis -GARD:21749 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea -GARD:12314 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome -GARD:5870 Autoimmune hemolytic anemia -GARD:20590 Autoimmune hemolytic anemia, cold type -GARD:7876 Autoimmune hemolytic anemia, warm type -GARD:17766 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome -GARD:5871 Autoimmune hepatitis -GARD:22251 Autoimmune hepatitis type 1 -GARD:22252 Autoimmune hepatitis type 2 -GARD:18824 Autoimmune hypoparathyroidism -GARD:17762 Autoimmune interstitial lung disease-arthritis syndrome -GARD:22492 Autoimmune limbic encephalitis -GARD:8686 Autoimmune lymphoproliferative syndrome -GARD:12316 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency -GARD:9796 Autoimmune lymphoproliferative syndrome with recurrent viral infections -GARD:15361 Autoimmune lymphoproliferative syndrome, type iia -GARD:15987 Autoimmune lymphoproliferative syndrome, type iii -GARD:19575 Autoimmune neurological channelopathy -GARD:10911 Autoimmune pancreatitis -GARD:21076 Autoimmune pancreatitis type 1 -GARD:21077 Autoimmune pancreatitis type 2 -GARD:21116 Autoimmune polyendocrinopathy -GARD:8466 Autoimmune polyendocrinopathy type 1 -GARD:7611 Autoimmune polyendocrinopathy type 2 -GARD:10980 Autoimmune polyendocrinopathy type 3 -GARD:20567 Autoimmune polyendocrinopathy type 4 -GARD:7499 Autoimmune pulmonary alveolar proteinosis -GARD:18906 Autoimmune thrombocytopenia -GARD:22037 Autoimmune/inflammatory optic neuropathy -GARD:17486 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation -GARD:19234 Autoinflammatory syndrome -GARD:21427 Autoinflammatory syndrome of childhood -GARD:21161 Autoinflammatory syndrome with immune deficiency -GARD:17494 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis -GARD:21162 Autoinflammatory syndrome with skin involvement -GARD:9640 Autosomal agammaglobulinemia -GARD:19417 Autosomal anomaly -GARD:624 Autosomal dominant Alport syndrome -GARD:12431 Autosomal dominant Charcot-Marie-Tooth disease type 2 -GARD:21999 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation -GARD:21447 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation -GARD:21815 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation -GARD:12447 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons -GARD:1248 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 -GARD:16925 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 -GARD:9192 Autosomal dominant Charcot-Marie-Tooth disease type 2B -GARD:1250 Autosomal dominant Charcot-Marie-Tooth disease type 2C -GARD:1251 Autosomal dominant Charcot-Marie-Tooth disease type 2D -GARD:17959 Autosomal dominant Charcot-Marie-Tooth disease type 2DD -GARD:9193 Autosomal dominant Charcot-Marie-Tooth disease type 2E -GARD:9194 Autosomal dominant Charcot-Marie-Tooth disease type 2F -GARD:9195 Autosomal dominant Charcot-Marie-Tooth disease type 2G -GARD:9197 Autosomal dominant Charcot-Marie-Tooth disease type 2I -GARD:9198 Autosomal dominant Charcot-Marie-Tooth disease type 2J -GARD:9199 Autosomal dominant Charcot-Marie-Tooth disease type 2K -GARD:12432 Autosomal dominant Charcot-Marie-Tooth disease type 2L -GARD:17147 Autosomal dominant Charcot-Marie-Tooth disease type 2M -GARD:12429 Autosomal dominant Charcot-Marie-Tooth disease type 2N -GARD:12434 Autosomal dominant Charcot-Marie-Tooth disease type 2O -GARD:12446 Autosomal dominant Charcot-Marie-Tooth disease type 2Q -GARD:17638 Autosomal dominant Charcot-Marie-Tooth disease type 2U -GARD:17777 Autosomal dominant Charcot-Marie-Tooth disease type 2V -GARD:17891 Autosomal dominant Charcot-Marie-Tooth disease type 2W -GARD:17714 Autosomal dominant Charcot-Marie-Tooth disease type 2Y -GARD:17829 Autosomal dominant Charcot-Marie-Tooth disease type 2Z -GARD:16865 Autosomal dominant Emery-Dreifuss muscular dystrophy -GARD:83 Autosomal dominant Kenny-Caffey syndrome -GARD:16620 Autosomal dominant Robinow syndrome -GARD:17102 Autosomal dominant adult-onset proximal spinal muscular atrophy -GARD:17420 Autosomal dominant aplasia and myelodysplasia -GARD:10429 Autosomal dominant brachyolmia -GARD:12719 Autosomal dominant centronuclear myopathy -GARD:4346 Autosomal dominant cerebellar ataxia -GARD:19252 Autosomal dominant cerebellar ataxia type I -GARD:20405 Autosomal dominant cerebellar ataxia type II -GARD:19253 Autosomal dominant cerebellar ataxia type III -GARD:19254 Autosomal dominant cerebellar ataxia type IV -GARD:12372 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome -GARD:17559 Autosomal dominant childhood-onset proximal spinal muscular atrophy -GARD:18722 Autosomal dominant coarctation of aorta -GARD:19770 Autosomal dominant complex spastic paraplegia -GARD:1474 Autosomal dominant congenital benign spinal muscular atrophy -GARD:1639 Autosomal dominant cutis laxa -GARD:4732 Autosomal dominant deafness-onychodystrophy syndrome -GARD:21292 Autosomal dominant diffuse mutilating palmoplantar keratoderma -GARD:19449 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature -GARD:21301 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature -GARD:19448 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -GARD:21949 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome -GARD:19926 Autosomal dominant distal hereditary motor neuropathy -GARD:20361 Autosomal dominant distal myopathy -GARD:4668 Autosomal dominant distal renal tubular acidosis -GARD:9817 Autosomal dominant dopa-responsive dystonia -GARD:1039 Autosomal dominant epidermolytic ichthyosis -GARD:2257 Autosomal dominant epilepsy with auditory features -GARD:10667 Autosomal dominant focal dystonia, DYT25 type -GARD:17669 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering -GARD:2139 Autosomal dominant generalized dystrophic epidermolysis bullosa -GARD:2147 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form -GARD:2141 Autosomal dominant generalized epidermolysis bullosa simplex, severe form -GARD:19924 Autosomal dominant hereditary axonal motor and sensory neuropathy -GARD:19923 Autosomal dominant hereditary demyelinating motor and sensory neuropathy -GARD:19928 Autosomal dominant hereditary sensory and autonomic neuropathy -GARD:6800 Autosomal dominant hyper-IgE syndrome -GARD:17284 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency -GARD:17283 Autosomal dominant hyperinsulinism due to SUR1 deficiency -GARD:2877 Autosomal dominant hypocalcemia -GARD:2048 Autosomal dominant hypohidrotic ectodermal dysplasia -GARD:16781 Autosomal dominant hypophosphatemic rickets -GARD:17797 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome -GARD:12436 Autosomal dominant intermediate Charcot-Marie-Tooth disease -GARD:12437 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A -GARD:12438 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B -GARD:12439 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C -GARD:9207 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D -GARD:12011 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E -GARD:9206 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F -GARD:21446 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain -GARD:19447 Autosomal dominant isolated diffuse palmoplantar keratoderma -GARD:3089 Autosomal dominant keratitis -GARD:19824 Autosomal dominant limb-girdle muscular dystrophy -GARD:10229 Autosomal dominant limb-girdle muscular dystrophy type 1A -GARD:12532 Autosomal dominant limb-girdle muscular dystrophy type 1H -GARD:16965 Autosomal dominant macrothrombocytopenia -GARD:21424 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency -GARD:17461 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency -GARD:21425 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency -GARD:17794 Autosomal dominant mitochondrial myopathy with exercise intolerance -GARD:13058 Autosomal dominant multiple pterygium syndrome -GARD:16917 Autosomal dominant myoglobinuria -GARD:21838 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome -GARD:17497 Autosomal dominant neovascular inflammatory vitreoretinopathy -GARD:11918 Autosomal dominant nocturnal frontal lobe epilepsy -GARD:12107 Autosomal dominant non-syndromic intellectual disability -GARD:16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA -GARD:3643 Autosomal dominant omodysplasia -GARD:11972 Autosomal dominant optic atrophy -GARD:10203 Autosomal dominant optic atrophy and cataract -GARD:20686 Autosomal dominant optic atrophy and peripheral neuropathy -GARD:5243 Autosomal dominant optic atrophy plus syndrome -GARD:9890 Autosomal dominant optic atrophy, classic form -GARD:4151 Autosomal dominant osteopetrosis type 1 -GARD:5021 Autosomal dominant otospondylomegaepiphyseal dysplasia -GARD:604 Autosomal dominant palmoplantar keratoderma and congenital alopecia -GARD:10413 Autosomal dominant polycystic kidney disease -GARD:9481 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis -GARD:3242 Autosomal dominant popliteal pterygium syndrome -GARD:21953 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome -GARD:3350 Autosomal dominant primary hypomagnesemia with hypocalciuria -GARD:3605 Autosomal dominant primary microcephaly -GARD:10319 Autosomal dominant prognathism -GARD:16486 Autosomal dominant progressive external ophthalmoplegia -GARD:16772 Autosomal dominant progressive nephropathy with hypertension -GARD:21394 Autosomal dominant proximal renal tubular acidosis -GARD:20454 Autosomal dominant proximal spinal muscular atrophy -GARD:19771 Autosomal dominant pure spastic paraplegia -GARD:17104 Autosomal dominant rhegmatogenous retinal detachment -GARD:17189 Autosomal dominant secondary polycythemia -GARD:9558 Autosomal dominant severe congenital neutropenia -GARD:16962 Autosomal dominant slowed nerve conduction velocity -GARD:21402 Autosomal dominant spastic ataxia -GARD:17206 Autosomal dominant spastic ataxia type 1 -GARD:9590 Autosomal dominant spastic paraplegia type 10 -GARD:9586 Autosomal dominant spastic paraplegia type 12 -GARD:9616 Autosomal dominant spastic paraplegia type 13 -GARD:4219 Autosomal dominant spastic paraplegia type 17 -GARD:9588 Autosomal dominant spastic paraplegia type 19 -GARD:9729 Autosomal dominant spastic paraplegia type 29 -GARD:5041 Autosomal dominant spastic paraplegia type 3 -GARD:10817 Autosomal dominant spastic paraplegia type 31 -GARD:17472 Autosomal dominant spastic paraplegia type 36 -GARD:17064 Autosomal dominant spastic paraplegia type 37 -GARD:17065 Autosomal dominant spastic paraplegia type 38 -GARD:4925 Autosomal dominant spastic paraplegia type 4 -GARD:17471 Autosomal dominant spastic paraplegia type 41 -GARD:17073 Autosomal dominant spastic paraplegia type 42 -GARD:4928 Autosomal dominant spastic paraplegia type 6 -GARD:17763 Autosomal dominant spastic paraplegia type 73 -GARD:9591 Autosomal dominant spastic paraplegia type 8 -GARD:9583 Autosomal dominant spastic paraplegia type 9A -GARD:21866 Autosomal dominant spastic paraplegia type 9B -GARD:12806 Autosomal dominant spondylocostal dysostosis -GARD:17146 Autosomal dominant striatal neurodegeneration -GARD:17835 Autosomal dominant thrombocytopenia with platelet secretion defect -GARD:10801 Autosomal dominant tubulointerstitial kidney disease -GARD:5507 Autosomal dominant vitreoretinochoroidopathy -GARD:4527 Autosomal erythropoietic protoporphyria -GARD:21110 Autosomal ichthyosis syndrome -GARD:21113 Autosomal ichthyosis syndrome with fatal disease course -GARD:21114 Autosomal ichthyosis syndrome with other associated signs -GARD:21111 Autosomal ichthyosis syndrome with prominent hair abnormalities -GARD:21112 Autosomal ichthyosis syndrome with prominent neurologic signs -GARD:19826 Autosomal monosomy -GARD:625 Autosomal recessive Alport syndrome -GARD:17830 Autosomal recessive Charcot-Marie-Tooth disease type 2X -GARD:12448 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness -GARD:16866 Autosomal recessive Emery-Dreifuss muscular dystrophy -GARD:8367 Autosomal recessive Kenny-Caffey syndrome -GARD:16568 Autosomal recessive Robinow syndrome -GARD:17203 Autosomal recessive Stickler syndrome -GARD:16554 Autosomal recessive amelia -GARD:17954 Autosomal recessive anterior segment dysgenesis -GARD:20666 Autosomal recessive ataxia due to PEX10 deficiency -GARD:10294 Autosomal recessive ataxia due to ubiquinone deficiency -GARD:12234 Autosomal recessive ataxia, Beauce type -GARD:22143 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect -GARD:12449 Autosomal recessive axonal hereditary motor and sensory neuropathy -GARD:12353 Autosomal recessive axonal neuropathy with neuromyotonia -GARD:10301 Autosomal recessive bestrophinopathy -GARD:13171 Autosomal recessive brachyolmia -GARD:12718 Autosomal recessive centronuclear myopathy -GARD:18718 Autosomal recessive cerebellar ataxia -GARD:17786 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency -GARD:17689 Autosomal recessive cerebellar ataxia due to STUB1 deficiency -GARD:19414 Autosomal recessive cerebellar ataxia due to a DNA repair defect -GARD:21525 Autosomal recessive cerebellar ataxia with late-onset spasticity -GARD:21719 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome -GARD:17678 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency -GARD:17677 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency -GARD:17313 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency -GARD:4952 Autosomal recessive cerebellar ataxia-movement disorder syndrome -GARD:17312 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome -GARD:17556 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome -GARD:1199 Autosomal recessive cerebelloparenchymal disorder type 3 -GARD:21560 Autosomal recessive cerebral atrophy -GARD:16603 Autosomal recessive chorioretinopathy-microcephaly syndrome -GARD:19772 Autosomal recessive complex spastic paraplegia -GARD:17946 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction -GARD:19412 Autosomal recessive congenital cerebellar ataxia -GARD:17557 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency -GARD:17481 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency -GARD:21106 Autosomal recessive congenital ichthyosis -GARD:8480 Autosomal recessive cutis laxa type 1 -GARD:19134 Autosomal recessive cutis laxa type 2 -GARD:17546 Autosomal recessive cutis laxa type 2, classic type -GARD:1638 Autosomal recessive cutis laxa type 2A -GARD:1641 Autosomal recessive cutis laxa type 2B -GARD:19415 Autosomal recessive degenerative and progressive cerebellar ataxia -GARD:21302 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature -GARD:21293 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -GARD:19451 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature -GARD:19927 Autosomal recessive distal hereditary motor neuropathy -GARD:20362 Autosomal recessive distal myopathy -GARD:4299 Autosomal recessive distal osteolysis syndrome -GARD:4666 Autosomal recessive distal renal tubular acidosis -GARD:1902 Autosomal recessive dopa-responsive dystonia -GARD:22074 Autosomal recessive epidermolytic ichthyosis -GARD:17996 Autosomal recessive extra-oral halitosis -GARD:5124 Autosomal recessive faciodigitogenital syndrome -GARD:21489 Autosomal recessive frontotemporal pachygyria -GARD:12794 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form -GARD:6308 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form -GARD:16778 Autosomal recessive generalized epidermolysis bullosa simplex -GARD:19925 Autosomal recessive hereditary demyelinating motor and sensory neuropathy -GARD:19929 Autosomal recessive hereditary sensory and autonomic neuropathy -GARD:16727 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency -GARD:16726 Autosomal recessive hyperinsulinism due to SUR1 deficiency -GARD:2057 Autosomal recessive hypohidrotic ectodermal dysplasia -GARD:17320 Autosomal recessive hypophosphatemic rickets -GARD:17374 Autosomal recessive infantile hypercalcemia -GARD:12452 Autosomal recessive intermediate Charcot-Marie-Tooth disease -GARD:12453 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A -GARD:12454 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B -GARD:17587 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C -GARD:17723 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D -GARD:19450 Autosomal recessive isolated diffuse palmoplantar keratoderma -GARD:16860 Autosomal recessive isolated optic atrophy -GARD:17976 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy -GARD:21378 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome -GARD:19825 Autosomal recessive limb-girdle muscular dystrophy -GARD:17101 Autosomal recessive lower motor neuron disease with childhood onset -GARD:15012 Autosomal recessive malignant osteopetrosis -GARD:21422 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency -GARD:21423 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency -GARD:17861 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency -GARD:17459 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency -GARD:17460 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency -GARD:22319 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency -GARD:19413 Autosomal recessive metabolic cerebellar ataxia -GARD:7111 Autosomal recessive multiple pterygium syndrome -GARD:17447 Autosomal recessive myogenic arthrogryposis multiplex congenita -GARD:18650 Autosomal recessive nail dysplasia -GARD:18643 Autosomal recessive non-syndromic intellectual disability -GARD:18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB -GARD:4076 Autosomal recessive omodysplasia -GARD:17143 Autosomal recessive optic atrophy, OPA7 type -GARD:1139 Autosomal recessive palmoplantar keratoderma and congenital alopecia -GARD:8378 Autosomal recessive polycystic kidney disease -GARD:17732 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity -GARD:12117 Autosomal recessive primary microcephaly -GARD:1191 Autosomal recessive progressive external ophthalmoplegia -GARD:16826 Autosomal recessive proximal renal tubular acidosis -GARD:19773 Autosomal recessive pure spastic paraplegia -GARD:20658 Autosomal recessive secondary polycythemia not associated with VHL gene -GARD:21834 Autosomal recessive severe congenital neutropenia -GARD:17698 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency -GARD:21747 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency -GARD:17511 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency -GARD:17702 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency -GARD:17240 Autosomal recessive sideroblastic anemia -GARD:21403 Autosomal recessive spastic ataxia -GARD:4910 Autosomal recessive spastic ataxia of Charlevoix-Saguenay -GARD:17425 Autosomal recessive spastic ataxia with leukoencephalopathy -GARD:10992 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome -GARD:4919 Autosomal recessive spastic paraplegia type 11 -GARD:9589 Autosomal recessive spastic paraplegia type 14 -GARD:9581 Autosomal recessive spastic paraplegia type 15 -GARD:4922 Autosomal recessive spastic paraplegia type 18 -GARD:5372 Autosomal recessive spastic paraplegia type 20 -GARD:16939 Autosomal recessive spastic paraplegia type 21 -GARD:336 Autosomal recessive spastic paraplegia type 23 -GARD:9296 Autosomal recessive spastic paraplegia type 24 -GARD:9582 Autosomal recessive spastic paraplegia type 25 -GARD:9587 Autosomal recessive spastic paraplegia type 26 -GARD:16940 Autosomal recessive spastic paraplegia type 27 -GARD:16941 Autosomal recessive spastic paraplegia type 28 -GARD:12749 Autosomal recessive spastic paraplegia type 32 -GARD:10538 Autosomal recessive spastic paraplegia type 35 -GARD:4924 Autosomal recessive spastic paraplegia type 39 -GARD:17473 Autosomal recessive spastic paraplegia type 43 -GARD:17478 Autosomal recessive spastic paraplegia type 44 -GARD:17477 Autosomal recessive spastic paraplegia type 45 -GARD:17476 Autosomal recessive spastic paraplegia type 46 -GARD:17378 Autosomal recessive spastic paraplegia type 48 -GARD:17445 Autosomal recessive spastic paraplegia type 53 -GARD:17475 Autosomal recessive spastic paraplegia type 54 -GARD:17474 Autosomal recessive spastic paraplegia type 55 -GARD:17480 Autosomal recessive spastic paraplegia type 56 -GARD:17712 Autosomal recessive spastic paraplegia type 57 -GARD:21695 Autosomal recessive spastic paraplegia type 59 -GARD:4926 Autosomal recessive spastic paraplegia type 5A -GARD:21696 Autosomal recessive spastic paraplegia type 60 -GARD:17656 Autosomal recessive spastic paraplegia type 61 -GARD:17657 Autosomal recessive spastic paraplegia type 62 -GARD:17658 Autosomal recessive spastic paraplegia type 63 -GARD:17659 Autosomal recessive spastic paraplegia type 64 -GARD:21697 Autosomal recessive spastic paraplegia type 66 -GARD:21698 Autosomal recessive spastic paraplegia type 67 -GARD:21699 Autosomal recessive spastic paraplegia type 69 -GARD:21700 Autosomal recessive spastic paraplegia type 70 -GARD:21701 Autosomal recessive spastic paraplegia type 71 -GARD:17842 Autosomal recessive spastic paraplegia type 74 -GARD:17813 Autosomal recessive spastic paraplegia type 75 -GARD:17892 Autosomal recessive spastic paraplegia type 76 -GARD:17827 Autosomal recessive spastic paraplegia type 77 -GARD:17952 Autosomal recessive spastic paraplegia type 78 -GARD:17770 Autosomal recessive spastic paraplegia type 9B -GARD:9971 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome -GARD:6798 Autosomal recessive spondylocostal dysostosis -GARD:17667 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type -GARD:19416 Autosomal recessive syndromic cerebellar ataxia -GARD:21080 Autosomal semi-dominant severe lipodystrophic laminopathy -GARD:16942 Autosomal spastic paraplegia type 30 -GARD:17644 Autosomal spastic paraplegia type 58 -GARD:17660 Autosomal spastic paraplegia type 72 -GARD:17368 Autosomal systemic lupus erythematosus -GARD:17041 Autosomal thrombocytopenia with normal platelets -GARD:19418 Autosomal trisomy -GARD:19423 Autosomal uniparental disomy -GARD:21658 Avascular necrosis -GARD:21668 Avascular necrosis of genetic origin -GARD:21897 Avian influenza -GARD:16485 Axenfeld anomaly -GARD:5701 Axenfeld-Rieger syndrome -GARD:10281 Axenfeld-rieger syndrome, type 1 -GARD:10517 Axenfeld-rieger syndrome, type 2 -GARD:9626 Axenfeld-rieger syndrome, type 3 -GARD:213 Axial mesodermal dysplasia spectrum -GARD:8720 Axial spondylometaphyseal dysplasia -GARD:21951 Axonal hereditary motor and sensory neuropathy -GARD:20415 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy -GARD:958 Aymé-Gripp syndrome -GARD:19662 Azygos continuation of the inferior vena cava -GARD:6104 B-cell chronic lymphocytic leukemia -GARD:22284 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome -GARD:20132 B-cell non-Hodgkin lymphoma -GARD:8223 B-cell prolymphocytic leukemia -GARD:22345 B-lymphoblastic leukemia/lymphoma with hyperdiploidy -GARD:22346 B-lymphoblastic leukemia/lymphoma with hypodiploidy -GARD:22341 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality -GARD:22344 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) -GARD:22348 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) -GARD:22347 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) -GARD:22342 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) -GARD:22343 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) -GARD:17974 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome -GARD:9841 B4GALT1-CDG -GARD:9991 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome -GARD:13219 BAP1-related tumor predisposition syndrome -GARD:13339 BENTA disease -GARD:13222 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy -GARD:10595 BNAR syndrome -GARD:10147 BOR syndrome -GARD:16746 BRESEK syndrome -GARD:17847 BVES-related limb-girdle muscular dystrophy -GARD:5878 Babesiosis -GARD:20378 Bacterial myositis -GARD:12638 Bacterial susceptibility due to TLR signaling pathway deficiency -GARD:9560 Bacterial toxic-shock syndrome -GARD:13259 Bainbridge-Ropers syndrome -GARD:809 Balantidiasis -GARD:21558 Balint syndrome -GARD:1602 Baller-Gerold syndrome -GARD:5885 Baló concentric sclerosis -GARD:414 Bamforth-Lazarus syndrome -GARD:2250 Band heterotopia -GARD:812 Bangstad syndrome -GARD:813 Banki syndrome -GARD:5887 Bannayan-Riley-Ruvalcaba syndrome -GARD:5279 Baraitser-Winter cerebrofrontofacial syndrome -GARD:15189 Baraitser-winter syndrome 1 -GARD:15817 Baraitser-winter syndrome 2 -GARD:819 Barber-Say syndrome -GARD:6866 Bardet-Biedl syndrome -GARD:820 Bardet-biedl syndrome 1 -GARD:10209 Bardet-biedl syndrome 10 -GARD:10210 Bardet-biedl syndrome 11 -GARD:10211 Bardet-biedl syndrome 12 -GARD:16037 Bardet-biedl syndrome 13 -GARD:16038 Bardet-biedl syndrome 14 -GARD:16039 Bardet-biedl syndrome 15 -GARD:16040 Bardet-biedl syndrome 16 -GARD:16041 Bardet-biedl syndrome 17 -GARD:16042 Bardet-biedl syndrome 18 -GARD:16043 Bardet-biedl syndrome 19 -GARD:821 Bardet-biedl syndrome 2 -GARD:16226 Bardet-biedl syndrome 21 -GARD:16193 Bardet-biedl syndrome 22 -GARD:822 Bardet-biedl syndrome 3 -GARD:823 Bardet-biedl syndrome 4 -GARD:10204 Bardet-biedl syndrome 5 -GARD:10205 Bardet-biedl syndrome 6 -GARD:10206 Bardet-biedl syndrome 7 -GARD:10207 Bardet-biedl syndrome 8 -GARD:10208 Bardet-biedl syndrome 9 -GARD:10664 Baroreflex failure -GARD:5890 Barth syndrome -GARD:4436 Bartsocas-Papas syndrome -GARD:10570 Bartsocas-papas syndrome 1 -GARD:16444 Bartsocas-papas syndrome 2 -GARD:5893 Bartter syndrome -GARD:22482 Bartter syndrome type 1 -GARD:22483 Bartter syndrome type 2 -GARD:9659 Bartter syndrome type 3 -GARD:10508 Bartter syndrome type 4 -GARD:22308 Bartter syndrome type 5 -GARD:15348 Bartter syndrome, type 4a, neonatal, with sensorineural deafness -GARD:15612 Bartter syndrome, type 4b, neonatal, with sensorineural deafness -GARD:20971 Basal encephalocele -GARD:15893 Basal ganglia calcification, idiopathic, 4 -GARD:15973 Basal ganglia calcification, idiopathic, 5 -GARD:16107 Basal ganglia calcification, idiopathic, 6 -GARD:16384 Basal ganglia calcification, idiopathic, 8, autosomal recessive -GARD:9598 Basal ganglia calcification, idiopathic, childhood-onset -GARD:15060 Basal laminar drusen -GARD:17821 Basel-Vanagaite-Smirin-Yosef syndrome -GARD:16938 Bathing suit ichthyosis -GARD:20069 Bazex syndrome -GARD:838 Bazex-Dupré-Christol syndrome -GARD:5900 Becker muscular dystrophy -GARD:3856 Becker nevus syndrome -GARD:3343 Beckwith-Wiedemann syndrome -GARD:20601 Beckwith-Wiedemann syndrome due to 11p15 microdeletion -GARD:19308 Beckwith-Wiedemann syndrome due to 11p15 microduplication -GARD:20602 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion -GARD:17160 Beckwith-Wiedemann syndrome due to CDKN1C mutation -GARD:17178 Beckwith-Wiedemann syndrome due to NSD1 mutation -GARD:20600 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 -GARD:19342 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 -GARD:846 Beemer-Ertbruggen syndrome -GARD:7392 Behavioral variant of frontotemporal dementia -GARD:848 Behçet disease -GARD:2633 Bencze syndrome -GARD:21445 Benign Samaritan congenital myopathy -GARD:16758 Benign adult familial myoclonic epilepsy -GARD:20019 Benign cephalic histiocytosis -GARD:19582 Benign childhood occipital epilepsy, Gastaut type -GARD:19581 Benign childhood occipital epilepsy, Panayiotopoulos type -GARD:9887 Benign concentric annular macular dystrophy -GARD:17274 Benign epithelial tumor of salivary glands -GARD:857 Benign familial infantile epilepsy -GARD:17001 Benign familial mesial temporal lobe epilepsy -GARD:1519 Benign familial neonatal epilepsy -GARD:1518 Benign familial neonatal-infantile seizures -GARD:18728 Benign focal seizures of adolescence -GARD:1305 Benign hereditary chorea -GARD:18860 Benign idiopathic neonatal seizures -GARD:20075 Benign infantile focal epilepsy with midline spikes and waves during sleep -GARD:20074 Benign infantile seizures associated with mild gastroenteritis -GARD:21928 Benign metanephric tumor -GARD:20445 Benign nocturnal alternating hemiplegia of childhood -GARD:20071 Benign non-familial infantile seizures -GARD:2170 Benign occipital epilepsy -GARD:4176 Benign paroxysmal tonic upgaze of childhood with ataxia -GARD:18913 Benign paroxysmal torticollis of infancy -GARD:20072 Benign partial epilepsy of infancy with complex partial seizures -GARD:20073 Benign partial epilepsy with secondarily generalized seizures in infancy -GARD:20076 Benign partial infantile seizures -GARD:7180 Benign peripheral nerve sheath tumor -GARD:12185 Benign recurrent intrahepatic cholestasis -GARD:10028 Benign recurrent intrahepatic cholestasis type 1 -GARD:10029 Benign recurrent intrahepatic cholestasis type 2 -GARD:4767 Benign schwannoma -GARD:20203 Benign tumor of fallopian tubes -GARD:2470 Bernard-Soulier syndrome -GARD:15082 Bernard-soulier syndrome, type a2, autosomal dominant -GARD:182 Best vitelliform macular dystrophy -GARD:872 Beta-ketothiolase deficiency -GARD:869 Beta-mannosidosis -GARD:654 Beta-mercaptolactate cysteine disulfiduria -GARD:12570 Beta-propeller protein-associated neurodegeneration -GARD:3851 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 -GARD:871 Beta-thalassemia -GARD:21023 Beta-thalassemia and related diseases -GARD:20607 Beta-thalassemia associated with another hemoglobin anomaly -GARD:17163 Beta-thalassemia intermedia -GARD:17162 Beta-thalassemia major -GARD:20610 Beta-thalassemia with other manifestations -GARD:17166 Beta-thalassemia-X-linked thrombocytopenia syndrome -GARD:16669 Beta-ureidopropionase deficiency -GARD:873 Bethlem myopathy -GARD:16121 Bethlem myopathy 2 -GARD:20177 Bicervical bicornuate uterus and blind hemivagina -GARD:20178 Bicervical bicornuate uterus with patent cervix and vagina -GARD:18944 Bickerstaff brainstem encephalitis -GARD:20183 Bicornuate uterus -GARD:882 Biemond syndrome type 2 -GARD:10050 Bietti crystalline dystrophy -GARD:884 Bifid nose -GARD:15044 Bifid nose, autosomal dominant -GARD:15142 Bifid nose, autosomal recessive -GARD:19687 Bifid uvula -GARD:4539 Bifunctional enzyme deficiency -GARD:18897 Bilateral acute depigmentation of the iris -GARD:10783 Bilateral frontal polymicrogyria -GARD:10784 Bilateral frontoparietal polymicrogyria -GARD:10786 Bilateral generalized polymicrogyria -GARD:21409 Bilateral massive adrenal hemorrhage -GARD:16966 Bilateral microtia-deafness-cleft palate syndrome -GARD:9517 Bilateral multicystic dysplastic kidney -GARD:10785 Bilateral parasagittal parieto-occipital polymicrogyria -GARD:6011 Bilateral perisylvian polymicrogyria -GARD:17269 Bilateral polymicrogyria -GARD:6406 Bilateral striopallidodentate calcinosis -GARD:21041 Bile acid CoA ligase deficiency and defective amidation -GARD:20048 Bile acid synthesis defect with cholestasis and malabsorption -GARD:22018 Biliary atresia and associated disorders -GARD:20652 Biliary atresia with splenic malformation syndrome -GARD:15043 Biliary cirrhosis, primary, 1 -GARD:15601 Biliary cirrhosis, primary, 2 -GARD:15602 Biliary cirrhosis, primary, 3 -GARD:15776 Biliary cirrhosis, primary, 4 -GARD:15777 Biliary cirrhosis, primary, 5 -GARD:21790 Biliary cystadenocarcinoma -GARD:6830 Bilirubin encephalopathy -GARD:21873 Biological anomaly without phenotypic characterization -GARD:10237 Biotin-thiamine-responsive basal ganglia disease -GARD:894 Biotinidase deficiency -GARD:21566 Bipartite talus -GARD:5926 Birdshot chorioretinopathy -GARD:2322 Birt-Hogg-Dubé syndrome -GARD:22 Björnstad syndrome -GARD:6274 Blackfan-Diamond anemia -GARD:6398 Bladder exstrophy -GARD:19603 Blake pouch cyst -GARD:304 Blau syndrome -GARD:16691 Bleeding diathesis due to a collagen receptor defect -GARD:13293 Bleeding diathesis due to glycoprotein VI deficiency -GARD:16868 Bleeding diathesis due to integrin alpha2-beta1 deficiency -GARD:17132 Bleeding diathesis due to thromboxane synthesis deficiency -GARD:17695 Bleeding disorder due to CalDAG-GEFI deficiency -GARD:12478 Bleeding disorder due to P2Y12 defect -GARD:17076 Bleeding disorder in hemophilia A carriers -GARD:17077 Bleeding disorder in hemophilia B carriers -GARD:18272 Bleeding disorder, platelet-type, 15 -GARD:15117 Bleeding disorder, platelet-type, 17 -GARD:18491 Bleeding disorder, platelet-type, 20 -GARD:16230 Bleeding disorder, platelet-type, 21 -GARD:18273 Bleeding disorder, platelet-type, 24 -GARD:2071 Blepharo-cheilo-odontic syndrome -GARD:16244 Blepharocheilodontic syndrome 2 -GARD:4238 Blepharonasofacial malformation syndrome -GARD:10892 Blepharophimosis-intellectual disability syndrome -GARD:17341 Blepharophimosis-intellectual disability syndrome, MKB type -GARD:3348 Blepharophimosis-intellectual disability syndrome, Ohdo type -GARD:16618 Blepharophimosis-intellectual disability syndrome, SBBYS type -GARD:17342 Blepharophimosis-intellectual disability syndrome, Verloes type -GARD:22398 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome -GARD:23 Blepharophimosis-ptosis-epicanthus inversus syndrome -GARD:22312 Blepharophimosis-ptosis-epicanthus inversus syndrome plus -GARD:18008 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 -GARD:10213 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 -GARD:905 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome -GARD:912 Blepharoptosis-myopia-ectopia lentis syndrome -GARD:7008 Blepharospasm-oromandibular dystonia syndrome -GARD:17070 Blindness-scoliosis-arachnodactyly syndrome -GARD:914 Blomstrand lethal chondrodysplasia -GARD:915 Bloom syndrome -GARD:916 Blount disease -GARD:15217 Blount disease, adolescent -GARD:15120 Blount disease, infantile -GARD:917 Blue cone monochromatism -GARD:5939 Blue diaper syndrome -GARD:5940 Blue rubber bleb nevus -GARD:13063 Bockenheimer syndrome -GARD:22496 Body integrity dysphoria -GARD:16796 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency -GARD:10140 Bohring-Opitz syndrome -GARD:21412 Bolivian hemorrhagic fever -GARD:922 Bone dysplasia, lethal Holmgren type -GARD:15920 Bone mineral density quantitative trait locus 16 -GARD:20547 Bone sarcoma -GARD:2113 Bonnemann-Meinecke-Reich syndrome -GARD:933 Boomerang dysplasia -GARD:9363 Borderline epithelial tumor of ovary -GARD:936 Borjeson-Forssman-Lehmann syndrome -GARD:16684 Bosley-Salih-Alorainy syndrome -GARD:16734 Bothnia retinal dystrophy -GARD:943 Botulism -GARD:19031 Boutonneuse fever -GARD:5950 Bowen-Conradi syndrome -GARD:960 Brachydactylous dwarfism, Mseleni type -GARD:978 Brachydactyly type A1 -GARD:979 Brachydactyly type A2 -GARD:990 Brachydactyly type A4 -GARD:983 Brachydactyly type A6 -GARD:984 Brachydactyly type A7 -GARD:985 Brachydactyly type B -GARD:18009 Brachydactyly type B1 -GARD:16963 Brachydactyly type B2 -GARD:986 Brachydactyly type C -GARD:987 Brachydactyly type E -GARD:15407 Brachydactyly, type a1, b -GARD:15903 Brachydactyly, type a1, c -GARD:16164 Brachydactyly, type a1, d -GARD:15654 Brachydactyly, type e2 -GARD:967 Brachydactyly-arterial hypertension syndrome -GARD:966 Brachydactyly-elbow wrist dysplasia syndrome -GARD:968 Brachydactyly-long thumb syndrome -GARD:5036 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome -GARD:971 Brachydactyly-nystagmus-cerebellar ataxia syndrome -GARD:972 Brachydactyly-preaxial hallux varus syndrome -GARD:17017 Brachydactyly-short stature-retinitis pigmentosa syndrome -GARD:16821 Brachydactyly-syndactyly, Zhao type -GARD:918 Brachymorphism-onychodysplasia-dysphalangism syndrome -GARD:10903 Brachyolmia -GARD:995 Brachyolmia type 1, hobaek type -GARD:4977 Brachyolmia type 1, toledo type -GARD:16816 Brachyolmia, Maroteaux type -GARD:5478 Brachyolmia-amelogenesis imperfecta syndrome -GARD:1296 Brachytelephalangic chondrodysplasia punctata -GARD:16562 Brachytelephalangy-dysmorphism-Kallmann syndrome -GARD:16652 Braddock syndrome -GARD:12299 Bradyopsia -GARD:17082 Brain calcification, Rajab type -GARD:8397 Brain demyelination due to methionine adenosyltransferase deficiency -GARD:13594 Brain dopamine-serotonin vesicular transport disease -GARD:19818 Brain inflammatory disease -GARD:18926 Brain malformation-congenital heart disease-postaxial polydactyly syndrome -GARD:13489 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome -GARD:15107 Brain small vessel disease 1 with or without ocular anomalies -GARD:15808 Brain small vessel disease 2 -GARD:12163 Brain-lung-thyroid syndrome -GARD:19907 Branchial arch or oral-acral syndrome -GARD:3212 Branchio-oculo-facial syndrome -GARD:16648 Branchiogenic deafness syndrome -GARD:10148 Branchiootic syndrome -GARD:15053 Branchiootic syndrome 2 -GARD:15430 Branchiootic syndrome 3 -GARD:15503 Branchiootorenal syndrome 2 -GARD:955 Branchioskeletogenital syndrome -GARD:21414 Brazilian hemorrhagic fever -GARD:12351 Breast-ovarian cancer, familial, susceptibility to, 1 -GARD:12352 Breast-ovarian cancer, familial, susceptibility to, 2 -GARD:15657 Breast-ovarian cancer, familial, susceptibility to, 3 -GARD:15785 Breast-ovarian cancer, familial, susceptibility to, 4 -GARD:15045 Breasts and/or nipples, aplasia or hypoplasia of, 1 -GARD:16044 Breasts and/or nipples, aplasia or hypoplasia of, 2 -GARD:19725 Brill-Zinsser disease -GARD:1019 Brittle cornea syndrome -GARD:15764 Brittle cornea syndrome 2 -GARD:9158 Brody myopathy -GARD:19360 Bronchial neuroendocrine tumor -GARD:18054 Bronchiectasis with or without elevated sweat chloride 1 -GARD:18055 Bronchiectasis with or without elevated sweat chloride 2 -GARD:18056 Bronchiectasis with or without elevated sweat chloride 3 -GARD:5961 Bronchiolitis obliterans with obstructive pulmonary disease -GARD:1025 Bronchogenic cyst -GARD:5962 Bronchopulmonary dysplasia -GARD:10179 Brooke-Spiegler syndrome -GARD:5966 Brucellosis -GARD:1029 Bruck syndrome -GARD:10023 Bruck syndrome 2 -GARD:1030 Brugada syndrome -GARD:15526 Brugada syndrome 2 -GARD:10361 Brugada syndrome 3 -GARD:10362 Brugada syndrome 4 -GARD:15584 Brugada syndrome 5 -GARD:15619 Brugada syndrome 6 -GARD:15620 Brugada syndrome 7 -GARD:15622 Brugada syndrome 8 -GARD:16104 Brugada syndrome 9 -GARD:5968 Budd-Chiari syndrome -GARD:5969 Buerger disease -GARD:20365 Bulbospinal muscular atrophy -GARD:20367 Bulbospinal muscular atrophy of adult -GARD:20366 Bulbospinal muscular atrophy of childhood -GARD:21088 Bullous diffuse cutaneous mastocytosis -GARD:18820 Bullous impetigo -GARD:18808 Bullous lichen planus -GARD:5972 Bullous pemphigoid -GARD:22222 Bullous pyoderma gangrenosum -GARD:18546 Buratti-harel syndrome -GARD:5973 Burkitt lymphoma -GARD:10041 Burn-McKeown syndrome -GARD:5974 Burning mouth syndrome -GARD:1044 Buschke-Ollendorff syndrome -GARD:16890 Butterfly-shaped pigment dystrophy -GARD:7482 Butyrylcholinesterase deficiency -GARD:932 Böök syndrome -GARD:5978 C syndrome -GARD:17910 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy -GARD:22015 C12ORF65-related combined oxidative phosphorylation defect -GARD:12958 C1q deficiency -GARD:16487 C3 glomerulonephritis -GARD:17507 C3 glomerulopathy -GARD:231 CACH syndrome -GARD:13621 CAD-CDG -GARD:12472 CADDS -GARD:22467 CADINS disease -GARD:9977 CAMOS syndrome -GARD:9778 CANOMAD syndrome -GARD:22228 CAR T cell therapy-associated cytokine release syndrome -GARD:17845 CCDC115-CDG -GARD:22417 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome -GARD:10556 CD4+/CD56+ hematodermic neoplasm -GARD:12173 CDKL5-deficiency disorder -GARD:22273 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome -GARD:9940 CEDNIK syndrome -GARD:22306 CELSR1-related late-onset primary lymphedema -GARD:1233 CHAND syndrome -GARD:29 CHARGE syndrome -GARD:13806 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome -GARD:6039 CHILD syndrome -GARD:310 CHIME syndrome -GARD:13169 CHST3-related skeletal dysplasia -GARD:13125 CIDEC-related familial partial lipodystrophy -GARD:1356 CINCA syndrome -GARD:17210 CK syndrome -GARD:17044 CLAPO syndrome -GARD:17880 CLCN4-related X-linked intellectual disability syndrome -GARD:18023 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome -GARD:10779 CLIPPERS -GARD:1219 CLN1 disease -GARD:1218 CLN10 disease -GARD:17426 CLN11 disease -GARD:17527 CLN13 disease -GARD:3045 CLN2 disease -GARD:5897 CLN3 disease -GARD:6845 CLN4A disease -GARD:1222 CLN4B disease -GARD:1223 CLN5 disease -GARD:1224 CLN6 disease -GARD:1220 CLN7 disease -GARD:17152 CLN8 disease -GARD:6618 CLN9 disease -GARD:10939 CLOVES syndrome -GARD:16997 CNTNAP2-related developmental and epileptic encephalopathy -GARD:12571 COASY protein-associated neurodegeneration -GARD:1418 CODAS syndrome -GARD:6027 COFS syndrome -GARD:10226 COG1-CDG -GARD:17720 COG2-CDG -GARD:12412 COG4-CDG -GARD:12348 COG5-CDG -GARD:10944 COG6-CGD -GARD:9842 COG7-CDG -GARD:12411 COG8-CDG -GARD:21961 COL4A1 or COL4A2-related cerebral small vessel disease -GARD:21963 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy -GARD:21962 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy -GARD:12264 COL4A1-related familial vascular leukoencephalopathy -GARD:17566 CTCF-related neurodevelopmental disorder -GARD:1051 Caffey disease -GARD:20329 Calcifying aponeurotic fibroma -GARD:5980 Calciphylaxis -GARD:21070 Calciphylaxis cutis -GARD:22272 Calpain-3-related limb-girdle muscular dystrophy D4 -GARD:1057 Calpain-3-related limb-girdle muscular dystrophy R1 -GARD:16739 Calvarial doughnut lesions-bone fragility syndrome -GARD:1061 Campomelia, Cumming type -GARD:10027 Campomelic dysplasia -GARD:19196 Campomelic dysplasia and related disorders -GARD:1062 Camptobrachydactyly -GARD:9448 Camptodactyly of fingers -GARD:1067 Camptodactyly syndrome, Guadalajara type 1 -GARD:1068 Camptodactyly syndrome, Guadalajara type 2 -GARD:10573 Camptodactyly syndrome, Guadalajara type 3 -GARD:306 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome -GARD:1064 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome -GARD:216 Camptodactyly-joint contractures-facial skeletal defects syndrome -GARD:10012 Camptodactyly-tall stature-scoliosis-hearing loss syndrome -GARD:1069 Camptodactyly-taurinuria syndrome -GARD:1071 Camptomelic syndrome, long-limb type -GARD:1072 Camurati-Engelmann disease -GARD:5984 Canavan disease -GARD:18912 Cancer-associated retinopathy -GARD:15418 Candidiasis, familial, 3 -GARD:15617 Candidiasis, familial, 4 -GARD:15093 Candidiasis, familial, 6 -GARD:15981 Candidiasis, familial, 8 -GARD:16114 Candidiasis, familial, 9 -GARD:8585 Cantú syndrome -GARD:11915 Cap myopathy -GARD:20038 Cap polyposis -GARD:11904 Capillary malformation-arteriovenous malformation -GARD:16307 Capillary malformation-arteriovenous malformation 2 -GARD:7269 Carbamoyl-phosphate synthetase 1 deficiency -GARD:20474 Carcinofibroma of the corpus uteri -GARD:5994 Carcinoid syndrome -GARD:6383 Carcinoma of esophagus -GARD:21741 Carcinoma of esophagus, salivary gland type -GARD:18850 Carcinoma of gallbladder and extrahepatic biliary tract -GARD:21786 Carcinoma of liver and intrahepatic biliary tract -GARD:21237 Carcinoma of the ampulla of Vater -GARD:21772 Carcinoma of the anal canal -GARD:20491 Carcinosarcoma of the cervix uteri -GARD:12335 Carcinosarcoma of the corpus uteri -GARD:19883 Cardiac anomalies-heterotaxy syndrome -GARD:15967 Cardiac arrhythmia syndrome, with or without skeletal muscle weakness -GARD:10432 Cardiac arrhythmia, ankyrin-b-related -GARD:1094 Cardiac diverticulum -GARD:15148 Cardiac lipidosis, familial -GARD:12613 Cardiac-valvular Ehlers-Danlos syndrome -GARD:8586 Cardiocranial syndrome, Pfeiffer type -GARD:9146 Cardiofaciocutaneous syndrome -GARD:15935 Cardiofaciocutaneous syndrome 2 -GARD:15936 Cardiofaciocutaneous syndrome 3 -GARD:15937 Cardiofaciocutaneous syndrome 4 -GARD:19362 Cardiogenic shock -GARD:1104 Cardiomyopathy, dilated, 1a -GARD:15543 Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction -GARD:15323 Cardiomyopathy, dilated, 1b -GARD:15588 Cardiomyopathy, dilated, 1bb -GARD:15331 Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction -GARD:15621 Cardiomyopathy, dilated, 1cc -GARD:15332 Cardiomyopathy, dilated, 1d -GARD:15627 Cardiomyopathy, dilated, 1dd -GARD:5644 Cardiomyopathy, dilated, 1e -GARD:15639 Cardiomyopathy, dilated, 1ee -GARD:15643 Cardiomyopathy, dilated, 1ff -GARD:15363 Cardiomyopathy, dilated, 1g -GARD:15684 Cardiomyopathy, dilated, 1gg -GARD:15365 Cardiomyopathy, dilated, 1h -GARD:15726 Cardiomyopathy, dilated, 1hh -GARD:15372 Cardiomyopathy, dilated, 1i -GARD:15916 Cardiomyopathy, dilated, 1ii -GARD:15924 Cardiomyopathy, dilated, 1jj -GARD:15382 Cardiomyopathy, dilated, 1k -GARD:15926 Cardiomyopathy, dilated, 1kk -GARD:15397 Cardiomyopathy, dilated, 1l -GARD:15413 Cardiomyopathy, dilated, 1m -GARD:16031 Cardiomyopathy, dilated, 1nn -GARD:15434 Cardiomyopathy, dilated, 1o -GARD:15469 Cardiomyopathy, dilated, 1p -GARD:15470 Cardiomyopathy, dilated, 1q -GARD:15661 Cardiomyopathy, dilated, 1r -GARD:12832 Cardiomyopathy, dilated, 1s -GARD:15689 Cardiomyopathy, dilated, 1u -GARD:15690 Cardiomyopathy, dilated, 1v -GARD:15515 Cardiomyopathy, dilated, 1w -GARD:15522 Cardiomyopathy, dilated, 1x -GARD:15530 Cardiomyopathy, dilated, 1y -GARD:15531 Cardiomyopathy, dilated, 1z -GARD:15532 Cardiomyopathy, dilated, 2a -GARD:15832 Cardiomyopathy, dilated, 2b -GARD:16305 Cardiomyopathy, dilated, 2c -GARD:15287 Cardiomyopathy, dilated, 3b -GARD:16014 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis -GARD:18070 Cardiomyopathy, familial restrictive, 1 -GARD:18071 Cardiomyopathy, familial restrictive, 2 -GARD:18072 Cardiomyopathy, familial restrictive, 3 -GARD:1102 Cardiomyopathy-cataract-hip spine disease syndrome -GARD:16795 Cardiomyopathy-hypotonia-lactic acidosis syndrome -GARD:2362 Cardiospondylocarpofacial syndrome -GARD:3889 Carey-Fineman-Ziter syndrome -GARD:19372 Caribbean parkinsonism -GARD:1119 Carney complex -GARD:15090 Carney complex, type 1 -GARD:15377 Carney complex, type 2 -GARD:17448 Carney complex-trismus-pseudocamptodactyly syndrome -GARD:10924 Carney triad -GARD:10643 Carney-Stratakis syndrome -GARD:1120 Carnitine palmitoyl transferase 1A deficiency -GARD:17149 Carnitine palmitoyl transferase II deficiency, myopathic form -GARD:17151 Carnitine palmitoyl transferase II deficiency, neonatal form -GARD:17150 Carnitine palmitoyl transferase II deficiency, severe infantile form -GARD:1121 Carnitine palmitoyltransferase II deficiency -GARD:1123 Carnitine-acylcarnitine translocase deficiency -GARD:6001 Carnosinase deficiency -GARD:6002 Caroli disease -GARD:21976 Caroli syndrome -GARD:6003 Carpenter syndrome -GARD:15128 Carpenter syndrome 1 -GARD:15889 Carpenter syndrome 2 -GARD:1128 Carpotarsal osteochondromatosis -GARD:6996 Cartilage-hair hypoplasia -GARD:5595 Carvajal syndrome -GARD:12656 Castleman disease -GARD:26 Cat-eye syndrome -GARD:27 Cat-scratch disease -GARD:15047 Cataract 1, multiple types -GARD:9892 Cataract 18 -GARD:15327 Cataract 24 -GARD:18232 Cataract 25 -GARD:18235 Cataract 27 -GARD:18233 Cataract 29 -GARD:15335 Cataract 3, multiple types -GARD:18236 Cataract 33, multiple types -GARD:15599 Cataract 34, multiple types -GARD:9492 Cataract 35 -GARD:15800 Cataract 37 -GARD:1144 Cataract 4, multiple types -GARD:18234 Cataract 41 -GARD:16127 Cataract 44 -GARD:16350 Cataract 48 -GARD:15046 Cataract 7 -GARD:15364 Cataract 9, multiple types -GARD:5554 Cataract-aberrant oral frenula-growth delay syndrome -GARD:1141 Cataract-ataxia-deafness syndrome -GARD:17440 Cataract-congenital heart disease-neural tube defect syndrome -GARD:248 Cataract-deafness-hypogonadism syndrome -GARD:1160 Cataract-glaucoma syndrome -GARD:17727 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome -GARD:1052 Cataract-hypertrichosis-intellectual disability syndrome -GARD:192 Cataract-intellectual disability-anal atresia-urinary defects syndrome -GARD:3406 Cataract-intellectual disability-hypogonadism syndrome -GARD:1155 Cataract-microcornea syndrome -GARD:1614 Cataract-nephropathy-encephalopathy syndrome -GARD:9820 Catastrophic antiphospholipid syndrome -GARD:4421 Catecholaminergic polymorphic ventricular tachycardia -GARD:28 Catel-Manzke syndrome -GARD:22320 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy -GARD:1163 Caudal appendage-deafness syndrome -GARD:1164 Caudal duplication -GARD:6007 Caudal regression syndrome -GARD:21862 Caudal regression-sirenomelia spectrum -GARD:20066 Cavitary myiasis -GARD:12308 Celiac artery compression syndrome -GARD:2166 Celiac disease-epilepsy-cerebral calcification syndrome -GARD:5084 Cenani-Lenz syndrome -GARD:10049 Central areolar choroidal dystrophy -GARD:16881 Central cloudy dystrophy of François -GARD:12280 Central congenital hypothyroidism -GARD:6014 Central core disease -GARD:6015 Central diabetes insipidus -GARD:18789 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome -GARD:20988 Central nervous system cystic malformation -GARD:20718 Central nervous system embryonal tumor -GARD:19394 Central nervous system malformation -GARD:10641 Central neurocytoma -GARD:21200 Central polydactyly -GARD:16546 Central precocious puberty -GARD:21734 Central retinal vein occlusion -GARD:200 Central serous chorioretinopathy -GARD:19125 Centrifugal lipodystrophy -GARD:101 Centronuclear myopathy -GARD:20967 Cephalocele -GARD:15384 Cerebellar ataxia and hypergonadotropic hypogonadism -GARD:17937 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome -GARD:20385 Cerebellar ataxia with peripheral neuropathy -GARD:16836 Cerebellar ataxia, Cayman type -GARD:15473 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 -GARD:15634 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 -GARD:15930 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 -GARD:1188 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome -GARD:1189 Cerebellar ataxia-ectodermal dysplasia syndrome -GARD:3314 Cerebellar ataxia-hypogonadism syndrome -GARD:18020 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome -GARD:1196 Cerebellar hypoplasia-tapetoretinal degeneration syndrome -GARD:10642 Cerebellar liponeurocytoma -GARD:20238 Cerebellar malformation -GARD:17761 Cerebellar-facial-dental syndrome -GARD:3020 Cerebral arteriovenous malformation -GARD:1049 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy -GARD:10424 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy -GARD:18313 Cerebral cavernous malformations 2 -GARD:18314 Cerebral cavernous malformations 3 -GARD:20982 Cerebral cortical dysplasia -GARD:20091 Cerebral diseases of vascular origin with epilepsy -GARD:19491 Cerebral lipidosis with dementia -GARD:20088 Cerebral malformation with epilepsy -GARD:18945 Cerebral organic aciduria -GARD:18309 Cerebral palsy, spastic quadriplegic, 2 -GARD:18310 Cerebral palsy, spastic quadriplegic, 3 -GARD:21485 Cerebral sinovenous thrombosis -GARD:21871 Cerebral visual impairment -GARD:6026 Cerebrocostomandibular syndrome -GARD:12662 Cerebrofacial arteriovenous metameric syndrome -GARD:19959 Cerebrofacial arteriovenous metameric syndrome type 1 -GARD:19960 Cerebrofacial arteriovenous metameric syndrome type 3 -GARD:5456 Cerebrofacioarticular syndrome -GARD:1210 Cerebrofaciothoracic dysplasia -GARD:15150 Cerebrooculofacioskeletal syndrome 1 -GARD:15497 Cerebrooculofacioskeletal syndrome 2 -GARD:16140 Cerebrooculofacioskeletal syndrome 3 -GARD:15498 Cerebrooculofacioskeletal syndrome 4 -GARD:3480 Cerebrooculonasal syndrome -GARD:15458 Cerebrorenodigital syndrome with limb malformations and triradiate acetabula -GARD:18441 Cerebroretinal microangiopathy with calcifications and cysts 1 -GARD:18442 Cerebroretinal microangiopathy with calcifications and cysts 2 -GARD:5622 Cerebrotendinous xanthomatosis -GARD:17045 Cernunnos-XLF deficiency -GARD:9508 Cerulean cataract -GARD:19639 Cervical aortic arch -GARD:19937 Cervical dermoid cyst -GARD:1226 Cervical hypertrichosis-peripheral neuropathy syndrome -GARD:20955 Cervical spina bifida aperta -GARD:20962 Cervical spina bifida cystica -GARD:19941 Cervicofacial fibrochondroma -GARD:20956 Cervicothoracic spina bifida aperta -GARD:20963 Cervicothoracic spina bifida cystica -GARD:6033 Chandler syndrome -GARD:20242 Channelopathy with epilepsy -GARD:21415 Chapare hemorrhagic fever -GARD:1237 Char syndrome -GARD:12433 Charcot-Marie-Tooth disease type 1 -GARD:1245 Charcot-Marie-Tooth disease type 1A -GARD:1246 Charcot-Marie-Tooth disease type 1B -GARD:1247 Charcot-Marie-Tooth disease type 1C -GARD:9189 Charcot-Marie-Tooth disease type 1D -GARD:9190 Charcot-Marie-Tooth disease type 1E -GARD:9191 Charcot-Marie-Tooth disease type 1F -GARD:8548 Charcot-Marie-Tooth disease type 2B1 -GARD:1249 Charcot-Marie-Tooth disease type 2B2 -GARD:17153 Charcot-Marie-Tooth disease type 2B5 -GARD:9196 Charcot-Marie-Tooth disease type 2H -GARD:12435 Charcot-Marie-Tooth disease type 2P -GARD:12451 Charcot-Marie-Tooth disease type 2R -GARD:17751 Charcot-Marie-Tooth disease type 2S -GARD:17909 Charcot-Marie-Tooth disease type 2T -GARD:12440 Charcot-Marie-Tooth disease type 4 -GARD:1252 Charcot-Marie-Tooth disease type 4A -GARD:1253 Charcot-Marie-Tooth disease type 4B1 -GARD:9200 Charcot-Marie-Tooth disease type 4B2 -GARD:17578 Charcot-Marie-Tooth disease type 4B3 -GARD:9201 Charcot-Marie-Tooth disease type 4C -GARD:3973 Charcot-Marie-Tooth disease type 4D -GARD:9203 Charcot-Marie-Tooth disease type 4E -GARD:12441 Charcot-Marie-Tooth disease type 4F -GARD:10132 Charcot-Marie-Tooth disease type 4G -GARD:12442 Charcot-Marie-Tooth disease type 4H -GARD:12443 Charcot-Marie-Tooth disease type 4J -GARD:16786 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome -GARD:6034 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy -GARD:1261 Charlie M syndrome -GARD:412 Cheilitis glandularis -GARD:19682 Cheirospondyloenchondromatosis -GARD:6036 Cherubism -GARD:6038 Chikungunya -GARD:19130 Chilblain lupus -GARD:18493 Chilblain lupus 1 -GARD:18494 Chilblain lupus 2 -GARD:16667 Childhood absence epilepsy -GARD:6040 Childhood disintegrative disorder -GARD:13571 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency -GARD:22362 Childhood-onset Steinert myotonic dystrophy -GARD:17568 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia -GARD:12232 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia -GARD:17918 Childhood-onset basal ganglia degeneration syndrome -GARD:17906 Childhood-onset benign chorea with striatal involvement -GARD:19437 Childhood-onset epilepsy syndrome -GARD:8735 Childhood-onset hypophosphatasia -GARD:13658 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder -GARD:7171 Childhood-onset nemaline myopathy -GARD:21942 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome -GARD:12681 Childhood-onset spasticity with hyperglycinemia -GARD:16951 Choanal atresia -GARD:19890 Choanal atresia, bilateral -GARD:19889 Choanal atresia, unilateral -GARD:22366 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome -GARD:9304 Cholangiocarcinoma -GARD:15992 Cholangiocarcinoma, susceptibility to -GARD:21973 Choledochal cyst -GARD:6043 Cholera -GARD:15888 Cholestasis, intrahepatic, of pregnancy 3 -GARD:15079 Cholestasis, intrahepatic, of pregnancy, 1 -GARD:18621 Cholestasis, progressive familial intrahepatic, 4 -GARD:370 Cholestasis-lymphedema syndrome -GARD:9280 Cholestasis-pigmentary retinopathy-cleft palate syndrome -GARD:16724 Cholesterol-ester transfer protein deficiency -GARD:12099 Cholesteryl ester storage disease -GARD:6048 Chondrocalcinosis 1 -GARD:8542 Chondrodysplasia punctata -GARD:16716 Chondrodysplasia punctata, Toriello type -GARD:15347 Chondrodysplasia punctata, brachytelephalangic, autosomal -GARD:16715 Chondrodysplasia punctata, tibial-metacarpal type -GARD:11009 Chondrodysplasia with joint dislocations, gPAPP type -GARD:16565 Chondrodysplasia-disorder of sex development syndrome -GARD:21408 Chondroectodermal dysplasia with night blindness -GARD:21720 Chondromyxoid fibroma -GARD:6055 Chondrosarcoma -GARD:20715 Chordoid glioma -GARD:1303 Chordoma -GARD:15152 Chorea, benign familial -GARD:3956 Choreoacanthocytosis -GARD:20734 Choriocarcinoma of the central nervous system -GARD:8238 Choroid plexus carcinoma -GARD:20722 Choroid plexus tumor -GARD:3704 Choroidal atrophy-alopecia syndrome -GARD:15615 Choroidal dystrophy, central areolar 2 -GARD:15623 Choroidal dystrophy, central areolar, 3 -GARD:6061 Choroideremia -GARD:10572 Christianson syndrome -GARD:1319 Chromomycosis -GARD:6064 Chromophobe renal cell carcinoma -GARD:19528 Chromosomal anomaly with cataract -GARD:20085 Chromosomal anomaly with epilepsy as a major feature -GARD:19214 Chromosomal disease with overgrowth -GARD:15572 Chromosome 17p13.3, telomeric, duplication syndrome -GARD:16461 Chromosome 20q11-q12 deletion syndrome -GARD:15688 Chromosome 2q31.1 duplication syndrome -GARD:15589 Chromosome 5q14.3 deletion syndrome, distal -GARD:19430 Chromosome X structural anomaly -GARD:19429 Chromosome Y structural anomaly -GARD:22683 Chromosome xp11.22 duplication syndrome -GARD:18433 Chromosome xq26.3 duplication syndrome -GARD:15266 Chromosome xq28 duplication syndrome -GARD:9534 Chronic Epstein-Barr virus infection syndrome -GARD:20409 Chronic acquired demyelinating polyneuropathy -GARD:21506 Chronic actinic dermatitis -GARD:12281 Chronic atrial and intestinal dysrhythmia syndrome -GARD:867 Chronic beryllium disease -GARD:22198 Chronic bilirubin encephalopathy -GARD:20043 Chronic cutaneous lupus erythematosus -GARD:19838 Chronic diarrhea due to glucoamylase deficiency -GARD:16576 Chronic diarrhea with villous atrophy -GARD:19434 Chronic encephalitis -GARD:21060 Chronic endophthalmitis -GARD:21946 Chronic enteropathy associated with SLCO2A1 gene -GARD:20104 Chronic eosinophilic leukemia -GARD:10964 Chronic graft versus host disease -GARD:6100 Chronic granulomatous disease -GARD:19256 Chronic hepatic porphyria -GARD:6657 Chronic hiccup -GARD:17417 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity -GARD:6102 Chronic inflammatory demyelinating polyneuropathy -GARD:22443 Chronic intervillositis of unknown etiology -GARD:21178 Chronic intestinal failure -GARD:12744 Chronic intestinal pseudoobstruction -GARD:22072 Chronic lymphoproliferative disorder of natural killer cells -GARD:22277 Chronic mast cell leukemia -GARD:1077 Chronic mucocutaneous candidiasis -GARD:6105 Chronic myeloid leukemia -GARD:8225 Chronic myelomonocytic leukemia -GARD:16764 Chronic myeloproliferative disease, unclassifiable -GARD:22456 Chronic neurovisceral acid sphingomyelinase deficiency -GARD:10585 Chronic neutrophilic leukemia -GARD:6108 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis -GARD:19166 Chronic pneumonitis of infancy -GARD:20410 Chronic polyradiculoneuropathy -GARD:19803 Chronic primary adrenal insufficiency -GARD:22038 Chronic relapsing inflammatory optic neuropathy -GARD:17127 Chronic respiratory distress with surfactant metabolism deficiency -GARD:13124 Chronic thromboembolic pulmonary hypertension -GARD:10729 Chronic visceral acid sphingomyelinase deficiency -GARD:86 Chudley-McCullough syndrome -GARD:17176 Chuvash erythrocytosis -GARD:9683 Chylomicron retention disease -GARD:1359 Chylous ascites -GARD:6035 Chédiak-Higashi syndrome -GARD:1360 Ciliary discoordination due to random ciliary orientation -GARD:2981 Ciliary dyskinesia with defective radial spokes -GARD:2982 Ciliary dyskinesia with excessively long cilia -GARD:1361 Ciliary dyskinesia with transposition of ciliary microtubules -GARD:15560 Ciliary dyskinesia, primary, 10 -GARD:15574 Ciliary dyskinesia, primary, 11 -GARD:15575 Ciliary dyskinesia, primary, 12 -GARD:15628 Ciliary dyskinesia, primary, 13 -GARD:15713 Ciliary dyskinesia, primary, 14 -GARD:15714 Ciliary dyskinesia, primary, 15 -GARD:15743 Ciliary dyskinesia, primary, 16 -GARD:15835 Ciliary dyskinesia, primary, 17 -GARD:15868 Ciliary dyskinesia, primary, 18 -GARD:15883 Ciliary dyskinesia, primary, 19 -GARD:15400 Ciliary dyskinesia, primary, 2 -GARD:15902 Ciliary dyskinesia, primary, 20 -GARD:15940 Ciliary dyskinesia, primary, 21 -GARD:15968 Ciliary dyskinesia, primary, 22 -GARD:15969 Ciliary dyskinesia, primary, 23 -GARD:15971 Ciliary dyskinesia, primary, 24 -GARD:15972 Ciliary dyskinesia, primary, 25 -GARD:15974 Ciliary dyskinesia, primary, 26 -GARD:15976 Ciliary dyskinesia, primary, 27 -GARD:15977 Ciliary dyskinesia, primary, 28 -GARD:16025 Ciliary dyskinesia, primary, 29 -GARD:15436 Ciliary dyskinesia, primary, 3 -GARD:16052 Ciliary dyskinesia, primary, 30 -GARD:16122 Ciliary dyskinesia, primary, 32 -GARD:16154 Ciliary dyskinesia, primary, 33 -GARD:16187 Ciliary dyskinesia, primary, 34 -GARD:16188 Ciliary dyskinesia, primary, 35 -GARD:15280 Ciliary dyskinesia, primary, 36, x-linked -GARD:16239 Ciliary dyskinesia, primary, 37 -GARD:16288 Ciliary dyskinesia, primary, 38 -GARD:15437 Ciliary dyskinesia, primary, 4 -GARD:16353 Ciliary dyskinesia, primary, 41 -GARD:16373 Ciliary dyskinesia, primary, 42 -GARD:16380 Ciliary dyskinesia, primary, 44 -GARD:16383 Ciliary dyskinesia, primary, 45 -GARD:15438 Ciliary dyskinesia, primary, 5 -GARD:15502 Ciliary dyskinesia, primary, 6 -GARD:15533 Ciliary dyskinesia, primary, 7 -GARD:15546 Ciliary dyskinesia, primary, 8 -GARD:15558 Ciliary dyskinesia, primary, 9 -GARD:16822 Ciliopathies with major skeletal involvement -GARD:21544 Ciliopathy -GARD:18898 Circumscribed palmoplantar hypokeratosis -GARD:10706 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome -GARD:18852 Cirrhotic cardiomyopathy -GARD:20661 Citrin deficiency -GARD:16522 Citrullinemia -GARD:6114 Citrullinemia type I -GARD:10215 Citrullinemia type II -GARD:9994 Clark-Baraitser syndrome -GARD:6520 Class I glucose-6-phosphate dehydrogenase deficiency -GARD:16529 Classic Hodgkin lymphoma -GARD:19594 Classic Hodgkin lymphoma, lymphocyte-depleted type -GARD:19593 Classic Hodgkin lymphoma, lymphocyte-rich type -GARD:19592 Classic Hodgkin lymphoma, mixed cellularity type -GARD:19591 Classic Hodgkin lymphoma, nodular sclerosis type -GARD:12665 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency -GARD:21398 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form -GARD:21399 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form -GARD:21473 Classic congenital lipoid adrenal hyperplasia due to STAR deficency -GARD:22452 Classic eosinophilic pustular folliculitis -GARD:13639 Classic galactosemia -GARD:9265 Classic glucose transporter type 1 deficiency syndrome -GARD:6560 Classic hairy cell leukemia -GARD:6667 Classic homocystinuria -GARD:5049 Classic lissencephaly -GARD:17263 Classic maple syrup urine disease -GARD:17216 Classic medulloblastoma -GARD:13661 Classic multiminicore myopathy -GARD:3863 Classic mycosis fungoides -GARD:21500 Classic neuroendocrine tumor of appendix -GARD:18947 Classic organic aciduria -GARD:17114 Classic pantothenate kinase-associated neurodegeneration -GARD:18982 Classic phenylketonuria -GARD:17182 Classic progressive supranuclear palsy syndrome -GARD:22220 Classic pyoderma gangrenosum -GARD:17754 Classic stiff person syndrome -GARD:2088 Classical Ehlers-Danlos syndrome -GARD:8507 Classical-like Ehlers-Danlos syndrome type 1 -GARD:17975 Classical-like Ehlers-Danlos syndrome type 2 -GARD:21652 Clear cell adenocarcinoma of the ovary -GARD:21721 Clear cell papillary renal cell carcinoma -GARD:9574 Clear cell renal carcinoma -GARD:21905 Clear cell sarcoma of kidney -GARD:19774 Cleft hard palate -GARD:16976 Cleft lip and alveolus -GARD:22068 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome -GARD:18754 Cleft lip with or without cleft palate -GARD:435 Cleft lip-retinopathy syndrome -GARD:17092 Cleft lip/palate -GARD:18755 Cleft lip/palate-deafness-sacral lipoma syndrome -GARD:375 Cleft lip/palate-ectodermal dysplasia syndrome -GARD:3430 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome -GARD:19267 Cleft mitral valve -GARD:1896 Cleft palate -GARD:162 Cleft palate-large ears-small head syndrome -GARD:1391 Cleft palate-lateral synechia syndrome -GARD:1392 Cleft palate-short stature-vertebral anomalies syndrome -GARD:1393 Cleft palate-stapes fixation-oligodontia syndrome -GARD:18243 Cleft soft palate -GARD:16907 Cleft velum -GARD:6118 Cleidocranial dysplasia -GARD:19206 Cleidocranial dysplasia and isolated cranial ossification defect -GARD:10623 Cleidocranial dysplasia, recessive form -GARD:5532 Cleidorhizomelic syndrome -GARD:19609 Climatic droplet keratopathy -GARD:4080 Cloacal exstrophy -GARD:20950 Closed iniencephaly -GARD:853 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome -GARD:16811 Cloverleaf skull-multiple congenital anomalies syndrome -GARD:15153 Coach syndrome 1 -GARD:16422 Coach syndrome 2 -GARD:16423 Coach syndrome 3 -GARD:6121 Coats disease -GARD:17412 Coats plus syndrome -GARD:3277 Cobblestone lissencephaly -GARD:17526 Cobblestone lissencephaly without muscular or ocular involvement -GARD:1413 Cocaine embryofetopathy -GARD:19115 Cocaine intoxication -GARD:9525 Coccidioidomycosis -GARD:22045 Cochlear nerve deficiency -GARD:9418 Cochleosaccular degeneration-cataract syndrome -GARD:22044 Cochleovestibular malformation -GARD:6122 Cockayne syndrome -GARD:15154 Cockayne syndrome a -GARD:15067 Cockayne syndrome b -GARD:1415 Cockayne syndrome type 1 -GARD:1420 Cockayne syndrome type 2 -GARD:1417 Cockayne syndrome type 3 -GARD:10423 Coenzyme Q10 deficiency -GARD:18378 Coenzyme q10 deficiency, primary, 1 -GARD:18379 Coenzyme q10 deficiency, primary, 3 -GARD:15539 Coenzyme q10 deficiency, primary, 4 -GARD:16403 Coenzyme q10 deficiency, primary, 9 -GARD:6123 Coffin-Lowry syndrome -GARD:6124 Coffin-Siris syndrome -GARD:15072 Coffin-siris syndrome 1 -GARD:16358 Coffin-siris syndrome 10 -GARD:16379 Coffin-siris syndrome 11 -GARD:16443 Coffin-siris syndrome 12 -GARD:15820 Coffin-siris syndrome 2 -GARD:15821 Coffin-siris syndrome 3 -GARD:15822 Coffin-siris syndrome 4 -GARD:16170 Coffin-siris syndrome 5 -GARD:16254 Coffin-siris syndrome 6 -GARD:16287 Coffin-siris syndrome 7 -GARD:16347 Coffin-siris syndrome 8 -GARD:16023 Coffin-siris syndrome 9 -GARD:1421 Cogan syndrome -GARD:6125 Cogan-Reese syndrome -GARD:12845 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome -GARD:6126 Cohen syndrome -GARD:16235 Cohen-gibson syndrome -GARD:18803 Colchicine poisoning -GARD:6130 Cold agglutinin disease -GARD:16983 Cold-induced sweating syndrome -GARD:21708 Cold-induced sweating syndrome-hyperthermia spectrum -GARD:1425 Cole-Carpenter syndrome -GARD:16077 Cole-carpenter syndrome 2 -GARD:19048 Collagen type III glomerulopathy -GARD:22237 Collagen-related glomerular basement membrane disease -GARD:9573 Collecting duct carcinoma -GARD:16875 Coloboma of choroid and retina -GARD:1433 Coloboma of eye lens -GARD:19605 Coloboma of eyelid -GARD:19978 Coloboma of inferior eyelid -GARD:1434 Coloboma of iris -GARD:1436 Coloboma of macula -GARD:1437 Coloboma of macula-brachydactyly type B syndrome -GARD:1438 Coloboma of optic disc -GARD:19977 Coloboma of superior eyelid -GARD:18021 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome -GARD:17844 Colobomatous macrophthalmia-microcornea syndrome -GARD:3644 Colobomatous microphthalmia -GARD:17575 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome -GARD:17707 Colobomatous microphthalmia-rhizomelic dysplasia syndrome -GARD:17719 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome -GARD:1446 Colonic atresia -GARD:19537 Color-vision disease -GARD:19042 Colorado tick fever -GARD:15457 Colorectal cancer, hereditary nonpolyposis, type 2 -GARD:15791 Colorectal cancer, hereditary nonpolyposis, type 4 -GARD:15792 Colorectal cancer, hereditary nonpolyposis, type 5 -GARD:15789 Colorectal cancer, hereditary nonpolyposis, type 6 -GARD:15799 Colorectal cancer, hereditary nonpolyposis, type 7 -GARD:15638 Colorectal cancer, hereditary nonpolyposis, type 8 -GARD:18485 Colorectal cancer, susceptibility to, 10 -GARD:18486 Colorectal cancer, susceptibility to, 12 -GARD:19806 Combined T and B cell immunodeficiency -GARD:16639 Combined deficiency of factor V and factor VIII -GARD:22418 Combined deficiency of factor VII and factor X -GARD:19432 Combined dystonia -GARD:21843 Combined hamartoma of the retina and retinal pigment epithelium -GARD:22200 Combined hepatocellular carcinoma and cholangiocarcinoma -GARD:20541 Combined hyperactive dysfunction syndrome of the cranial nerves -GARD:17981 Combined immunodeficiency due to CARMIL2 deficiency -GARD:17174 Combined immunodeficiency due to CD27 deficiency -GARD:17046 Combined immunodeficiency due to CD3gamma deficiency -GARD:17978 Combined immunodeficiency due to CD70 deficiency -GARD:17048 Combined immunodeficiency due to CRAC channel dysfunction -GARD:2816 Combined immunodeficiency due to DOCK8 deficiency -GARD:17941 Combined immunodeficiency due to GINS1 deficiency -GARD:17550 Combined immunodeficiency due to IL21R deficiency -GARD:17979 Combined immunodeficiency due to ITK deficiency -GARD:13565 Combined immunodeficiency due to LRBA deficiency -GARD:17647 Combined immunodeficiency due to MALT1 deficiency -GARD:17939 Combined immunodeficiency due to Moesin deficiency -GARD:10524 Combined immunodeficiency due to ORAI1 deficiency -GARD:17710 Combined immunodeficiency due to OX40 deficiency -GARD:22392 Combined immunodeficiency due to RELA haploinsufficiency -GARD:10523 Combined immunodeficiency due to STIM1 deficiency -GARD:17430 Combined immunodeficiency due to STK4 deficiency -GARD:17849 Combined immunodeficiency due to TFRC deficiency -GARD:387 Combined immunodeficiency due to ZAP70 deficiency -GARD:13712 Combined immunodeficiency due to partial RAG1 deficiency -GARD:17139 Combined immunodeficiency with faciooculoskeletal anomalies -GARD:13587 Combined immunodeficiency with granulomatosis -GARD:17731 Combined immunodeficiency-enteropathy spectrum -GARD:10818 Combined malonic and methylmalonic acidemia -GARD:18316 Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 -GARD:18317 Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 -GARD:17487 Combined oxidative phosphorylation defect type 11 -GARD:17454 Combined oxidative phosphorylation defect type 13 -GARD:17455 Combined oxidative phosphorylation defect type 14 -GARD:17456 Combined oxidative phosphorylation defect type 15 -GARD:17589 Combined oxidative phosphorylation defect type 17 -GARD:17232 Combined oxidative phosphorylation defect type 2 -GARD:17699 Combined oxidative phosphorylation defect type 20 -GARD:17700 Combined oxidative phosphorylation defect type 21 -GARD:17759 Combined oxidative phosphorylation defect type 23 -GARD:17765 Combined oxidative phosphorylation defect type 24 -GARD:17775 Combined oxidative phosphorylation defect type 25 -GARD:17854 Combined oxidative phosphorylation defect type 26 -GARD:17856 Combined oxidative phosphorylation defect type 27 -GARD:17863 Combined oxidative phosphorylation defect type 29 -GARD:17864 Combined oxidative phosphorylation defect type 30 -GARD:17999 Combined oxidative phosphorylation defect type 39 -GARD:17233 Combined oxidative phosphorylation defect type 4 -GARD:17234 Combined oxidative phosphorylation defect type 7 -GARD:17452 Combined oxidative phosphorylation defect type 8 -GARD:17453 Combined oxidative phosphorylation defect type 9 -GARD:18466 Combined oxidative phosphorylation deficiency 19 -GARD:17403 Combined pancreatic lipase-colipase deficiency -GARD:10602 Combined pituitary hormone deficiencies, genetic forms -GARD:21238 Combined pulmonary fibrosis-emphysema syndrome -GARD:19939 Commissural lip fistula -GARD:21915 Common cystic lymphatic malformation -GARD:6140 Common variable immunodeficiency -GARD:21092 Communicating congenital bronchopulmonary-foregut malformation -GARD:1452 Complement component 2 deficiency -GARD:16489 Complement component 3 deficiency -GARD:15798 Complement component 4a deficiency -GARD:15797 Complement component 4b deficiency -GARD:2191 Complement component 5 deficiency -GARD:18291 Complement component 6 deficiency -GARD:18290 Complement component 7 deficiency -GARD:10626 Complement component 8 deficiency, type i -GARD:10625 Complement component 8 deficiency, type ii -GARD:18292 Complement component 9 deficiency -GARD:15155 Complement component c1r/c1s deficiency -GARD:15707 Complement component c1s deficiency -GARD:18551 Complement factor h deficiency -GARD:15003 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome -GARD:10597 Complete androgen insensitivity syndrome -GARD:1454 Complete atrioventricular septal defect -GARD:16893 Complete atrioventricular septal defect with ventricular hypoplasia -GARD:22322 Complete atrioventricular septal defect without ventricular hypoplasia -GARD:16894 Complete atrioventricular septal defect-tetralogy of Fallot -GARD:16876 Complete cryptophthalmia -GARD:22033 Complete hemimelia -GARD:17224 Complete hydatidiform mole -GARD:20181 Complete septate uterus -GARD:20906 Complex chromosomal rearrangement -GARD:19823 Complex hereditary spastic paraplegia -GARD:17807 Complex lethal osteochondrodysplasia -GARD:4647 Complex regional pain syndrome -GARD:16928 Complex regional pain syndrome type 1 -GARD:19727 Complex regional pain syndrome type 2 -GARD:20465 Complex vascular malformation with associated anomalies -GARD:21259 Complication after organ transplantation -GARD:20948 Complication in hemodialysis -GARD:19107 Complications after hematopoietic stem cell transplantation -GARD:21907 Composite hemangioendothelioma -GARD:20109 Composite lymphoma -GARD:1460 Conductive deafness-malformed external ear syndrome -GARD:305 Conductive deafness-ptosis-skeletal anomalies syndrome -GARD:15342 Cone dystrophy 3 -GARD:16449 Cone dystrophy 4 -GARD:10649 Cone dystrophy with supernormal rod response -GARD:10119 Cone dystrophy, x-linked, with tapetal-like sheen -GARD:10790 Cone rod dystrophy -GARD:10651 Cone-rod dystrophy 1 -GARD:15477 Cone-rod dystrophy 10 -GARD:15484 Cone-rod dystrophy 11 -GARD:15577 Cone-rod dystrophy 12 -GARD:15426 Cone-rod dystrophy 13 -GARD:15686 Cone-rod dystrophy 15 -GARD:15812 Cone-rod dystrophy 16 -GARD:15914 Cone-rod dystrophy 17 -GARD:15953 Cone-rod dystrophy 18 -GARD:16022 Cone-rod dystrophy 19 -GARD:6145 Cone-rod dystrophy 2 -GARD:16036 Cone-rod dystrophy 20 -GARD:16125 Cone-rod dystrophy 21 -GARD:10653 Cone-rod dystrophy 3 -GARD:10655 Cone-rod dystrophy 5 -GARD:10656 Cone-rod dystrophy 6 -GARD:15356 Cone-rod dystrophy 7 -GARD:15381 Cone-rod dystrophy 8 -GARD:15582 Cone-rod dystrophy 9 -GARD:10652 Cone-rod dystrophy, x-linked, 1 -GARD:1462 Cone-rod dystrophy, x-linked, 2 -GARD:10654 Cone-rod dystrophy, x-linked, 3 -GARD:15485 Cone-rod synaptic disorder, congenital nonprogressive -GARD:20544 Confetti-like macular atrophy -GARD:18903 Congenital Epstein-Barr virus infection -GARD:19647 Congenital Gerbode defect -GARD:6670 Congenital Horner syndrome -GARD:21837 Congenital abducens nerve palsy -GARD:21194 Congenital absence of both forearm and hand -GARD:21195 Congenital absence of both lower leg and foot -GARD:21193 Congenital absence of thigh and lower leg with foot present -GARD:12123 Congenital absence of upper arm and forearm with hand present -GARD:377 Congenital absence/hypoplasia of fingers excluding thumb, unilateral -GARD:21438 Congenital achiasma -GARD:1467 Congenital adrenal hyperplasia -GARD:5658 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency -GARD:1469 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency -GARD:9152 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency -GARD:12664 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency -GARD:22011 Congenital agenesis of the scrotum -GARD:19510 Congenital alacrima -GARD:731 Congenital alpha2-antiplasmin deficiency -GARD:8644 Congenital alveolar capillary dysplasia -GARD:640 Congenital amegakaryocytic thrombocytopenia -GARD:22002 Congenital amyoplasia -GARD:13056 Congenital analbuminemia -GARD:19282 Congenital anomaly of hepatic vein -GARD:19275 Congenital anomaly of superior vena cava -GARD:19277 Congenital anomaly of the coronary sinus -GARD:19556 Congenital anomaly of the great arteries -GARD:21541 Congenital anomaly of the great veins -GARD:19276 Congenital anomaly of the inferior vena cava -GARD:19623 Congenital anomaly of the tricuspid valve chordae -GARD:19260 Congenital aortic valve atresia -GARD:19776 Congenital aortic valve dysplasia -GARD:18786 Congenital aortic valve stenosis -GARD:738 Congenital aortopulmonary window -GARD:22453 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome -GARD:19560 Congenital arteriovenous fistula -GARD:9595 Congenital atransferrinemia -GARD:22274 Congenital autosomal recessive small-platelet thrombocytopenia -GARD:22218 Congenital axonal neuropathy with encephalopathy -GARD:5461 Congenital bilateral absence of vas deferens -GARD:19180 Congenital bilateral megacalycosis -GARD:21996 Congenital bile acid synthesis defect -GARD:9813 Congenital bile acid synthesis defect type 1 -GARD:10045 Congenital bile acid synthesis defect type 2 -GARD:16713 Congenital bile acid synthesis defect type 3 -GARD:10046 Congenital bile acid synthesis defect type 4 -GARD:953 Congenital bowing of long bones -GARD:22076 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome -GARD:9848 Congenital brain dysgenesis due to glutamine synthetase deficiency -GARD:17327 Congenital cataract microcornea with corneal opacity -GARD:17365 Congenital cataract-hearing loss-severe developmental delay syndrome -GARD:1142 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome -GARD:10522 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome -GARD:22144 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome -GARD:16645 Congenital cataracts-facial dysmorphism-neuropathy syndrome -GARD:8535 Congenital central hypoventilation syndrome -GARD:22075 Congenital cerebellar ataxia due to RNU12 mutation -GARD:18706 Congenital cervical spinal stenosis -GARD:10001 Congenital chloride diarrhea -GARD:17500 Congenital chronic diarrhea with protein-losing enteropathy -GARD:10156 Congenital chylothorax -GARD:20998 Congenital communicating hydrocephalus -GARD:19666 Congenital complete agenesis of pericardium -GARD:5899 Congenital contractural arachnodactyly -GARD:18622 Congenital contractures of the limbs and face, hypotonia, and developmental delay -GARD:16657 Congenital cornea plana -GARD:19273 Congenital coronary artery aneurysm -GARD:10617 Congenital cystic eye -GARD:17040 Congenital deficiency in alpha-fetoprotein -GARD:21182 Congenital deformities of fingers -GARD:21181 Congenital deformities of limbs -GARD:1481 Congenital diaphragmatic hernia -GARD:10307 Congenital disorder of glycosylation -GARD:21607 Congenital disorder of glycosylation with cardiac malformation as a major feature -GARD:21612 Congenital disorder of glycosylation with deafness as a major feature -GARD:12782 Congenital disorder of glycosylation with developmental anomaly -GARD:21606 Congenital disorder of glycosylation with dilated cardiomyopathy -GARD:21604 Congenital disorder of glycosylation with epilepsy as a major feature -GARD:21605 Congenital disorder of glycosylation with hepatic involvement -GARD:21608 Congenital disorder of glycosylation with intestinal involvement -GARD:21611 Congenital disorder of glycosylation with nephropathy as a major feature -GARD:21603 Congenital disorder of glycosylation with neurological involvement -GARD:21610 Congenital disorder of glycosylation with skin involvement -GARD:21609 Congenital disorder of glycosylation-related bone disorder -GARD:1999 Congenital dyserythropoietic anemia -GARD:2000 Congenital dyserythropoietic anemia type I -GARD:2001 Congenital dyserythropoietic anemia type II -GARD:2002 Congenital dyserythropoietic anemia type III -GARD:17344 Congenital dyserythropoietic anemia type IV -GARD:19502 Congenital ectropion -GARD:19169 Congenital ectropion uveae -GARD:21224 Congenital elbow dislocation, bilateral -GARD:21223 Congenital elbow dislocation, unilateral -GARD:19839 Congenital enterocyte heparan sulfate deficiency -GARD:17038 Congenital enteropathy due to enteropeptidase deficiency -GARD:19845 Congenital enteropathy involving intestinal mucosa development -GARD:2130 Congenital enterovirus infection -GARD:20016 Congenital epulis -GARD:20619 Congenital erosive and vesicular dermatosis -GARD:4446 Congenital erythropoietic porphyria -GARD:19165 Congenital esophageal diverticulum -GARD:19675 Congenital eyelid retraction -GARD:2926 Congenital factor II deficiency -GARD:2237 Congenital factor V deficiency -GARD:2238 Congenital factor VII deficiency -GARD:6404 Congenital factor X deficiency -GARD:9670 Congenital factor XI deficiency -GARD:6558 Congenital factor XII deficiency -GARD:10766 Congenital factor XIII deficiency -GARD:6161 Congenital fiber-type disproportion myopathy -GARD:2320 Congenital fibrinogen deficiency -GARD:12590 Congenital fibrosis of extraocular muscles -GARD:21956 Congenital generalized hypercontractile muscle stiffness syndrome -GARD:8206 Congenital generalized hypertrichosis, Ambras type -GARD:13388 Congenital generalized lipodystrophy -GARD:21226 Congenital genu flexum -GARD:21225 Congenital genu recurvatum -GARD:2485 Congenital glaucoma -GARD:6164 Congenital heart block -GARD:4905 Congenital heart defect-round face-developmental delay syndrome -GARD:21910 Congenital hemangioma -GARD:19610 Congenital hereditary endothelial dystrophy type I -GARD:6196 Congenital hereditary endothelial dystrophy type II -GARD:17379 Congenital hereditary facial paralysis-variable hearing loss syndrome -GARD:18687 Congenital herpes simplex virus infection -GARD:2684 Congenital high-molecular-weight kininogen deficiency -GARD:6682 Congenital hydrocephalus -GARD:20135 Congenital hypogonadotropic hypogonadism -GARD:21198 Congenital hypoplasia of thumb -GARD:1487 Congenital hypothyroidism -GARD:19295 Congenital hypothyroidism due to developmental anomaly -GARD:20563 Congenital hypothyroidism due to maternal intake of antithyroid drugs -GARD:19297 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies -GARD:17515 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome -GARD:1489 Congenital ichthyosis-microcephalus-tetraplegia syndrome -GARD:22333 Congenital infiltrating lipomatosis of the face -GARD:21890 Congenital insensitivity to pain with severe intellectual disability -GARD:12267 Congenital insensitivity to pain-anosmia-neuropathic arthropathy -GARD:20514 Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation -GARD:19844 Congenital intestinal disease due to an enzymatic defect -GARD:19841 Congenital intestinal transport defect -GARD:12426 Congenital intrauterine infection-like syndrome -GARD:3024 Congenital intrinsic factor deficiency -GARD:5727 Congenital isolated ACTH deficiency -GARD:3947 Congenital isolated hyperinsulinism -GARD:21184 Congenital joint dislocations -GARD:21211 Congenital knee dislocation -GARD:22010 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome -GARD:12311 Congenital lactase deficiency -GARD:8370 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type -GARD:19953 Congenital laryngeal cyst -GARD:12713 Congenital laryngeal palsy -GARD:16596 Congenital laryngeal web -GARD:6865 Congenital laryngomalacia -GARD:2305 Congenital left ventricular aneurysm -GARD:2192 Congenital lethal erythroderma -GARD:17111 Congenital lethal myopathy, Compton-North type -GARD:18886 Congenital limb malformation -GARD:16075 Congenital limbs-face contractures-hypotonia-developmental delay syndrome -GARD:1465 Congenital lipoid adrenal hyperplasia due to STAR deficency -GARD:2104 Congenital lobar emphysema -GARD:16599 Congenital macroglossia -GARD:19522 Congenital malformation of the eye with glaucoma as a major feature -GARD:19496 Congenital malformation of the eyelid -GARD:19174 Congenital megacalycosis -GARD:18896 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization -GARD:1493 Congenital mesoblastic nephroma -GARD:17617 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome -GARD:3635 Congenital microcoria -GARD:20330 Congenital microgastria -GARD:1495 Congenital mitral malformation -GARD:1496 Congenital mitral stenosis -GARD:19266 Congenital mitral valve insufficiency and/or stenosis -GARD:10316 Congenital multicore myopathy with external ophthalmoplegia -GARD:12588 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies -GARD:9138 Congenital muscular dystrophy -GARD:12585 Congenital muscular dystrophy due to LMNA mutation -GARD:12584 Congenital muscular dystrophy due to dystroglycanopathy -GARD:12586 Congenital muscular dystrophy type 1B -GARD:17605 Congenital muscular dystrophy with cerebellar involvement -GARD:21600 Congenital muscular dystrophy with hyperlaxity -GARD:12587 Congenital muscular dystrophy with integrin alpha-7 deficiency -GARD:17606 Congenital muscular dystrophy with intellectual disability -GARD:12416 Congenital muscular dystrophy with intellectual disability and severe epilepsy -GARD:17607 Congenital muscular dystrophy without intellectual disability -GARD:6475 Congenital muscular dystrophy, Fukuyama type -GARD:4769 Congenital muscular dystrophy, Ullrich type -GARD:835 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome -GARD:17883 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome -GARD:11902 Congenital myasthenic syndrome -GARD:17539 Congenital myasthenic syndromes with glycosylation defect -GARD:5898 Congenital myopathy -GARD:20134 Congenital myopathy with cores -GARD:16869 Congenital myopathy with excess of thin filaments -GARD:17443 Congenital myopathy with internal nuclei and atypical cores -GARD:21783 Congenital myopathy with myasthenic-like onset -GARD:17989 Congenital myopathy with reduced type 2 muscle fibers -GARD:20335 Congenital myopathy, Paradas type -GARD:20373 Congenital myotonia -GARD:21901 Congenital nemaline myopathy -GARD:1500 Congenital nephrotic syndrome, Finnish type -GARD:17031 Congenital neuronal ceroid lipofuscinosis -GARD:17585 Congenital neutropenia-myelofibrosis-nephromegaly syndrome -GARD:9736 Congenital non-bullous ichthyosiform erythroderma -GARD:17272 Congenital non-communicating hydrocephalus -GARD:21836 Congenital oculomotor nerve palsy -GARD:22112 Congenital optic disc excavation -GARD:22154 Congenital optic disc excavation of genetic origin -GARD:16978 Congenital or early infantile CACH syndrome -GARD:4139 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome -GARD:21361 Congenital pancreatic cyst -GARD:19912 Congenital panfollicular nevus -GARD:19667 Congenital partial agenesis of pericardium -GARD:19665 Congenital partial pulmonary venous return anomaly -GARD:9692 Congenital patella dislocation -GARD:19634 Congenital patent ductus arteriosus aneurysm -GARD:18779 Congenital pericardium anomaly -GARD:4381 Congenital plasminogen activator inhibitor type 1 deficiency -GARD:21979 Congenital portosystemic shunt -GARD:4477 Congenital prekallikrein deficiency -GARD:9952 Congenital primary aphakia -GARD:22307 Congenital primary lymphedema of Gordon -GARD:18769 Congenital primary lymphedema without systemic or visceral involvement -GARD:18700 Congenital primary megaureter -GARD:20642 Congenital primary megaureter, nonrefluxing and unobstructed form -GARD:20640 Congenital primary megaureter, obstructed form -GARD:22236 Congenital primary megaureter, refluxing and obstructed form -GARD:20641 Congenital primary megaureter, refluxing form -GARD:22071 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome -GARD:16673 Congenital pseudoarthrosis of the clavicle -GARD:21204 Congenital pseudoarthrosis of the femur -GARD:21205 Congenital pseudoarthrosis of the fibula -GARD:20015 Congenital pseudoarthrosis of the limbs -GARD:21206 Congenital pseudoarthrosis of the radius -GARD:21203 Congenital pseudoarthrosis of the tibia -GARD:21207 Congenital pseudoarthrosis of the ulna -GARD:16798 Congenital ptosis -GARD:18772 Congenital pulmonary airway malformation -GARD:21093 Congenital pulmonary airway malformation type 0 -GARD:21094 Congenital pulmonary airway malformation type 1 -GARD:21095 Congenital pulmonary airway malformation type 2 -GARD:21096 Congenital pulmonary airway malformation type 3 -GARD:21097 Congenital pulmonary airway malformation type 4 -GARD:9900 Congenital pulmonary lymphangiectasia -GARD:4593 Congenital pulmonary sequestration -GARD:16623 Congenital pulmonary valvar stenosis -GARD:19559 Congenital pulmonary veins anomaly -GARD:4598 Congenital pulmonary veins atresia or stenosis -GARD:4599 Congenital pulmonary venous return anomaly -GARD:10876 Congenital radioulnar synostosis -GARD:19381 Congenital renal artery stenosis -GARD:1475 Congenital respiratory-biliary fistula -GARD:17305 Congenital reticular ichthyosiform erythroderma -GARD:21530 Congenital retinal arteriovenous communication -GARD:4744 Congenital rubella syndrome -GARD:20635 Congenital secondary polycythemia -GARD:16592 Congenital short bowel syndrome -GARD:18585 Congenital short bowel syndrome -GARD:19184 Congenital sialidosis type 2 -GARD:17586 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome -GARD:20902 Congenital smooth muscle hamartoma -GARD:16945 Congenital sodium diarrhea -GARD:3995 Congenital stationary night blindness -GARD:19663 Congenital stenosis of the inferior vena cava -GARD:16943 Congenital stromal corneal dystrophy -GARD:19952 Congenital subglottic stenosis -GARD:7710 Congenital sucrase-isomaltase deficiency -GARD:19626 Congenital supravalvular mitral ring -GARD:19606 Congenital symblepharon -GARD:22036 Congenital syphilis -GARD:18758 Congenital systemic arteriovenous fistula -GARD:18785 Congenital systemic veins anomaly -GARD:20450 Congenital temporomandibular joint ankylosis -GARD:9430 Congenital thrombotic thrombocytopenic purpura -GARD:19299 Congenital thyroid malformation without hypothyroidism -GARD:16896 Congenital total pulmonary venous return anomaly -GARD:18708 Congenital toxoplasmosis -GARD:12008 Congenital tracheal stenosis -GARD:10515 Congenital tracheomalacia -GARD:19555 Congenital tricuspid malformation -GARD:19262 Congenital tricuspid stenosis -GARD:22241 Congenital tricuspid valve dysplasia -GARD:10034 Congenital trigeminal anesthesia -GARD:19545 Congenital trochlear nerve palsy -GARD:10630 Congenital tufting enteropathy -GARD:19627 Congenital unguarded mitral orifice -GARD:16557 Congenital unilateral hypoplasia of depressor anguli oris -GARD:21814 Congenital urachal anomaly -GARD:45 Congenital varicella syndrome -GARD:20629 Congenital vascular bone syndrome -GARD:5470 Congenital velopharyngeal incompetence -GARD:17961 Congenital vertebral-cardiac-renal anomalies syndrome -GARD:5488 Congenital vertical talus -GARD:21218 Congenital vertical talus, bilateral -GARD:21217 Congenital vertical talus, unilateral -GARD:20121 Congenital vitamin K-dependent coagulation factors deficiency -GARD:22361 Congenital-onset Steinert myotonic dystrophy -GARD:1544 Congenitally corrected transposition of the great arteries -GARD:1551 Congenitally short costocoracoid ligament -GARD:5476 Congenitally uncorrected transposition of the great arteries -GARD:20503 Congenitally uncorrected transposition of the great arteries with cardiac malformation -GARD:19614 Congenitally uncorrected transposition of the great arteries with coarctation -GARD:10744 Conjunctival malignant melanoma -GARD:17362 Connective tissue disorder due to lysyl hydroxylase-3 deficiency -GARD:21750 Cono-spondylar dysplasia -GARD:8189 Conotruncal heart malformations -GARD:19452 Constitutional anemia due to iron metabolism disorder -GARD:20669 Constitutional deficiency anemia -GARD:21172 Constitutional dyserythropoietic anemia -GARD:19457 Constitutional hemolytic anemia due to acanthocytosis -GARD:19463 Constitutional megaloblastic anemia due to folate metabolism disorder -GARD:19462 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder -GARD:11000 Constitutional megaloblastic anemia with severe neurologic disease -GARD:17217 Constitutional mismatch repair deficiency syndrome -GARD:19809 Constitutional neutropenia -GARD:21508 Constitutional neutropenia with extra-hematopoietic manifestations -GARD:19453 Constitutional sideroblastic anemia -GARD:429 Constriction rings syndrome -GARD:1513 Continuous spikes and waves during sleep -GARD:21816 Contractures-developmental delay-Pierre Robin syndrome -GARD:1515 Contractures-ectodermal dysplasia-cleft lip/palate syndrome -GARD:21364 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome -GARD:4083 Cooks syndrome -GARD:16567 Cooper-Jabs syndrome -GARD:12483 Cor triatriatum dexter -GARD:12484 Cor triatriatum sinister -GARD:16886 Coralliform cataract -GARD:18049 Cornea plana 1, autosomal dominant -GARD:18050 Cornea plana 2, autosomal recessive -GARD:18810 Corneal dystrophy -GARD:18216 Corneal dystrophy, fuchs endothelial, 1 -GARD:18217 Corneal dystrophy, fuchs endothelial, 2 -GARD:18218 Corneal dystrophy, fuchs endothelial, 3 -GARD:18219 Corneal dystrophy, fuchs endothelial, 4 -GARD:18220 Corneal dystrophy, fuchs endothelial, 5 -GARD:18221 Corneal dystrophy, fuchs endothelial, 6 -GARD:18222 Corneal dystrophy, fuchs endothelial, 7 -GARD:18223 Corneal dystrophy, fuchs endothelial, 8 -GARD:10320 Corneal dystrophy, lattice type iiia -GARD:18212 Corneal dystrophy, posterior polymorphous, 1 -GARD:18213 Corneal dystrophy, posterior polymorphous, 2 -GARD:18214 Corneal dystrophy, posterior polymorphous, 3 -GARD:18215 Corneal dystrophy, posterior polymorphous, 4 -GARD:1529 Corneal dystrophy-perceptive deafness syndrome -GARD:19880 Corneal endotheliitis -GARD:17525 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome -GARD:10109 Cornelia de Lange syndrome -GARD:15259 Cornelia de lange syndrome 2 -GARD:15499 Cornelia de lange syndrome 3 with or without midline brain defects -GARD:15837 Cornelia de lange syndrome 4 with or without midline brain defects -GARD:15271 Cornelia de lange syndrome 5 -GARD:1531 Corneodermatoosseous syndrome -GARD:19523 Corneodysgenesis -GARD:1533 Coronary arterial fistula -GARD:1534 Coronary artery congenital malformation -GARD:19643 Coronary ostial stenosis or atresia -GARD:19659 Coronary sinus atresia -GARD:19658 Coronary sinus stenosis -GARD:4528 Corpus callosum agenesis-abnormal genitalia syndrome -GARD:12486 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome -GARD:21918 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome -GARD:1537 Corpus callosum agenesis-neuronopathy syndrome -GARD:1548 Cortical blindness-intellectual disability-polydactyly syndrome -GARD:13032 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation -GARD:13168 Corticobasal syndrome -GARD:13101 Corticosteroid-binding globulin deficiency -GARD:10946 Corticosteroid-sensitive aseptic abscess syndrome -GARD:15375 Cortisone reductase deficiency 1 -GARD:15830 Cortisone reductase deficiency 2 -GARD:1550 Costello syndrome -GARD:6202 Cowden syndrome -GARD:16450 Cowden syndrome 1 -GARD:16463 Cowden syndrome 4 -GARD:16464 Cowden syndrome 5 -GARD:16465 Cowden syndrome 6 -GARD:16470 Cowden syndrome 7 -GARD:1558 Coxoauricular syndrome -GARD:3030 Coxopodopatellar syndrome -GARD:6205 Cramp-fasciculation syndrome -GARD:1561 Crandall syndrome -GARD:8428 Crane-Heise syndrome -GARD:19390 Cranial malformation -GARD:20968 Cranial meningocele -GARD:19482 Cranial nerve and nuclear aplasia -GARD:20542 Cranial neuralgia -GARD:17693 Cranio-cervical dystonia with laryngeal and upper-limb involvement -GARD:1564 Cranio-osteoarthropathy -GARD:15156 Craniodiaphyseal dysplasia -GARD:1567 Craniodiaphyseal dysplasia -GARD:249 Craniodiaphyseal dysplasia, autosomal dominant -GARD:4776 Craniodigital-intellectual disability syndrome -GARD:359 Cranioectodermal dysplasia -GARD:15680 Cranioectodermal dysplasia 2 -GARD:15757 Cranioectodermal dysplasia 3 -GARD:15796 Cranioectodermal dysplasia 4 -GARD:19533 Craniofacial anomaly with cataract -GARD:19049 Craniofacial conodysplasia -GARD:17814 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome -GARD:1571 Craniofacial-deafness-hand syndrome -GARD:17571 Craniofaciofrontodigital syndrome -GARD:1578 Craniofrontonasal dysplasia -GARD:428 Craniofrontonasal dysplasia-Poland anomaly syndrome -GARD:16647 Craniolenticulosutural dysplasia -GARD:16737 Craniometadiaphyseal dysplasia, wormian bone type -GARD:15013 Craniometaphyseal dysplasia -GARD:1581 Craniometaphyseal dysplasia, autosomal dominant -GARD:1582 Craniometaphyseal dysplasia, autosomal recessive -GARD:1583 Craniomicromelic syndrome -GARD:10486 Craniopharyngioma -GARD:10504 Craniorachischisis -GARD:16984 Craniorhiny -GARD:19543 Craniostenosis with strabismus -GARD:6209 Craniosynostosis -GARD:18045 Craniosynostosis 1 -GARD:18047 Craniosynostosis 3 -GARD:18046 Craniosynostosis 5, susceptibility to -GARD:18048 Craniosynostosis 6 -GARD:5538 Craniosynostosis, Boston type -GARD:18762 Craniosynostosis, Herrmann-Opitz type -GARD:1601 Craniosynostosis, Philadelphia type -GARD:998 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome -GARD:9506 Craniosynostosis-anal anomalies-porokeratosis syndrome -GARD:17309 Craniosynostosis-dental anomalies -GARD:20127 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome -GARD:16653 Craniosynostosis-intracranial calcifications syndrome -GARD:18001 Craniosynostosis-microretrognathia-severe intellectual disability syndrome -GARD:1605 Craniotelencephalic dysplasia -GARD:18952 Creatine deficiency syndrome -GARD:16919 Cree leukoencephalopathy -GARD:1609 Creeping myiasis -GARD:16526 Crigler-Najjar syndrome -GARD:47 Crigler-Najjar syndrome type 1 -GARD:8683 Crigler-Najjar syndrome type 2 -GARD:19690 Crimean-Congo hemorrhagic fever -GARD:1611 Crisponi syndrome -GARD:18277 Crisponi/cold-induced sweating syndrome 2 -GARD:18724 Criss-cross heart -GARD:4427 Cronkhite-Canada syndrome -GARD:1617 Crossed polysyndactyly -GARD:6206 Crouzon syndrome -GARD:16810 Crouzon syndrome-acanthosis nigricans syndrome -GARD:6386 Cryoglobulinemic vasculitis -GARD:10927 Cryopyrin-associated periodic syndrome -GARD:6218 Cryptococcosis -GARD:20050 Cryptogenic late-onset epileptic spasms -GARD:21945 Cryptogenic multifocal ulcerous stenosing enteritis -GARD:1620 Cryptogenic organizing pneumonia -GARD:8174 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome -GARD:10505 Cryptophthalmia -GARD:860 Cryptorchidism-arachnodactyly-intellectual disability syndrome -GARD:10163 Curly hair-acral keratoderma-caries syndrome -GARD:1626 Currarino syndrome -GARD:5584 Curry-Jones syndrome -GARD:12867 Cushing disease -GARD:6224 Cushing syndrome -GARD:19698 Cushing syndrome due to ectopic ACTH secretion -GARD:10824 Cushing syndrome due to macronodular adrenal hyperplasia -GARD:12428 Cutaneous collagenous vasculopathy -GARD:1629 Cutaneous larva migrans -GARD:12687 Cutaneous mastocytoma -GARD:7842 Cutaneous mastocytosis -GARD:19723 Cutaneous myiasis -GARD:9266 Cutaneous neuroendocrine carcinoma -GARD:1633 Cutaneous photosensitivity-lethal colitis syndrome -GARD:7415 Cutaneous polyarteritis nodosa -GARD:21889 Cutaneous pseudolymphoma -GARD:7851 Cutaneous small vessel vasculitis -GARD:332 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome -GARD:6227 Cutis laxa -GARD:17140 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies -GARD:15055 Cutis laxa, autosomal dominant 1 -GARD:15802 Cutis laxa, autosomal dominant 2 -GARD:16143 Cutis laxa, autosomal dominant 3 -GARD:15157 Cutis laxa, autosomal recessive, type ia -GARD:15804 Cutis laxa, autosomal recessive, type ib -GARD:17069 Cutis laxa-Marfanoid syndrome -GARD:6228 Cutis marmorata telangiectatica congenita -GARD:21938 Cyanide poisoning -GARD:21266 Cyanide-induced parkinsonism-dystonia -GARD:6229 Cyclic neutropenia -GARD:9528 Cyclosporosis -GARD:11906 Cylindrical spirals myopathy -GARD:9487 Cyprus facial-neuromusculoskeletal syndrome -GARD:20346 Cystadenoma of childhood -GARD:2428 Cystathioninuria -GARD:2764 Cystic echinococcosis -GARD:6233 Cystic fibrosis -GARD:3303 Cystic fibrosis-gastritis-megaloblastic anemia syndrome -GARD:2557 Cystic hamartoma of lung and kidney -GARD:13199 Cystic leukoencephalopathy without megalencephaly -GARD:8194 Cysticercosis -GARD:6236 Cystinosis -GARD:6237 Cystinuria -GARD:16827 Cystinuria type A -GARD:16828 Cystinuria type B -GARD:16694 Cystoid macular dystrophy -GARD:19973 Cysts and fistulae of the face and oral cavity -GARD:19884 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk -GARD:19249 Cytophagic histiocytic panniculitis -GARD:17857 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder -GARD:4969 Czeizel-Losonci syndrome -GARD:17540 D,L-2-hydroxyglutaric aciduria -GARD:5661 D-2-hydroxyglutaric aciduria -GARD:15685 D-2-hydroxyglutaric aciduria 2 -GARD:234 D-glyceric aciduria -GARD:12398 DDOST-CDG -GARD:17899 DDX41-related hematologic malignancy predisposition syndrome -GARD:16701 DEND syndrome -GARD:17904 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome -GARD:17679 DITRA -GARD:12393 DK1-CDG -GARD:20114 DNA repair defect other than combined T-cell and B-cell immunodeficiencies -GARD:17518 DNA2-related mitochondrial DNA deletion syndrome -GARD:18653 DNAJB2-related Charcot-Marie-Tooth disease type 2 -GARD:12528 DNAJB6-related limb-girdle muscular dystrophy D1 -GARD:17509 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect -GARD:12653 DOCK2 deficiency -GARD:22314 DONSON-related microcephaly-short stature-limb abnormalities spectrum -GARD:1685 DOORS syndrome -GARD:9837 DPAGT1-CDG -GARD:9831 DPM1-CDG -GARD:12395 DPM3-CDG -GARD:13519 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy -GARD:13527 DYRK1A-related intellectual disability syndrome -GARD:20947 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion -GARD:351 Dacryocystitis-osteopoikilosis syndrome -GARD:237 Dahlberg-Borer-Newcomer syndrome -GARD:1669 Dandy-Walker malformation-postaxial polydactyly syndrome -GARD:6243 Darier disease -GARD:49 De Barsy syndrome -GARD:20651 De novo thrombotic microangiopathy after kidney transplantation -GARD:5535 Deaf blind hypopigmentation syndrome, Yemenite type -GARD:10707 Deafness with labyrinthine aplasia, microtia, and microdontia -GARD:18161 Deafness, aminoglycoside-induced -GARD:18103 Deafness, autosomal dominant 10 -GARD:18104 Deafness, autosomal dominant 11 -GARD:18107 Deafness, autosomal dominant 12 -GARD:18108 Deafness, autosomal dominant 13 -GARD:18109 Deafness, autosomal dominant 15 -GARD:18110 Deafness, autosomal dominant 16 -GARD:9726 Deafness, autosomal dominant 17 -GARD:18113 Deafness, autosomal dominant 18 -GARD:18111 Deafness, autosomal dominant 20 -GARD:18116 Deafness, autosomal dominant 21 -GARD:9167 Deafness, autosomal dominant 22 -GARD:1708 Deafness, autosomal dominant 23 -GARD:9166 Deafness, autosomal dominant 24 -GARD:18112 Deafness, autosomal dominant 25 -GARD:18128 Deafness, autosomal dominant 27 -GARD:18124 Deafness, autosomal dominant 28 -GARD:18099 Deafness, autosomal dominant 2a -GARD:18131 Deafness, autosomal dominant 2b -GARD:18114 Deafness, autosomal dominant 30 -GARD:18125 Deafness, autosomal dominant 31 -GARD:18135 Deafness, autosomal dominant 33 -GARD:18115 Deafness, autosomal dominant 36 -GARD:15383 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 -GARD:9933 Deafness, autosomal dominant 3a -GARD:18130 Deafness, autosomal dominant 3b -GARD:18142 Deafness, autosomal dominant 40 -GARD:18121 Deafness, autosomal dominant 41 -GARD:18123 Deafness, autosomal dominant 43 -GARD:18118 Deafness, autosomal dominant 44 -GARD:18126 Deafness, autosomal dominant 47 -GARD:18120 Deafness, autosomal dominant 48 -GARD:18122 Deafness, autosomal dominant 49 -GARD:18100 Deafness, autosomal dominant 4a -GARD:18136 Deafness, autosomal dominant 4b -GARD:18102 Deafness, autosomal dominant 5 -GARD:18132 Deafness, autosomal dominant 50 -GARD:18133 Deafness, autosomal dominant 51 -GARD:18119 Deafness, autosomal dominant 52 -GARD:9934 Deafness, autosomal dominant 53 -GARD:18138 Deafness, autosomal dominant 54 -GARD:18137 Deafness, autosomal dominant 56 -GARD:18139 Deafness, autosomal dominant 58 -GARD:18129 Deafness, autosomal dominant 59 -GARD:18101 Deafness, autosomal dominant 6 -GARD:18134 Deafness, autosomal dominant 64 -GARD:18140 Deafness, autosomal dominant 65 -GARD:18146 Deafness, autosomal dominant 66 -GARD:18141 Deafness, autosomal dominant 67 -GARD:18144 Deafness, autosomal dominant 68 -GARD:18143 Deafness, autosomal dominant 69 -GARD:18106 Deafness, autosomal dominant 7 -GARD:18145 Deafness, autosomal dominant 70 -GARD:18147 Deafness, autosomal dominant 71 -GARD:18148 Deafness, autosomal dominant 72 -GARD:18149 Deafness, autosomal dominant 73 -GARD:18151 Deafness, autosomal dominant 74 -GARD:18153 Deafness, autosomal dominant 75 -GARD:18154 Deafness, autosomal dominant 76 -GARD:18155 Deafness, autosomal dominant 77 -GARD:18156 Deafness, autosomal dominant 78 -GARD:18157 Deafness, autosomal dominant 79 -GARD:18158 Deafness, autosomal dominant 80 -GARD:18105 Deafness, autosomal dominant 9 -GARD:18117 Deafness, autosomal recessive -GARD:22660 Deafness, autosomal recessive 100 -GARD:22651 Deafness, autosomal recessive 101 -GARD:22652 Deafness, autosomal recessive 102 -GARD:22653 Deafness, autosomal recessive 103 -GARD:22654 Deafness, autosomal recessive 104 -GARD:22656 Deafness, autosomal recessive 106 -GARD:22657 Deafness, autosomal recessive 107 -GARD:22658 Deafness, autosomal recessive 108 -GARD:18150 Deafness, autosomal recessive 110 -GARD:22659 Deafness, autosomal recessive 111 -GARD:18377 Deafness, autosomal recessive 112 -GARD:18152 Deafness, autosomal recessive 113 -GARD:22662 Deafness, autosomal recessive 114 -GARD:22664 Deafness, autosomal recessive 116 -GARD:22665 Deafness, autosomal recessive 117 -GARD:22590 Deafness, autosomal recessive 12 -GARD:22594 Deafness, autosomal recessive 13 -GARD:22596 Deafness, autosomal recessive 14 -GARD:22591 Deafness, autosomal recessive 15 -GARD:22597 Deafness, autosomal recessive 16 -GARD:22593 Deafness, autosomal recessive 17 -GARD:22592 Deafness, autosomal recessive 18a -GARD:22648 Deafness, autosomal recessive 18b -GARD:1697 Deafness, autosomal recessive 1a -GARD:22629 Deafness, autosomal recessive 1b -GARD:22582 Deafness, autosomal recessive 2 -GARD:22598 Deafness, autosomal recessive 20 -GARD:22595 Deafness, autosomal recessive 21 -GARD:22601 Deafness, autosomal recessive 22 -GARD:22613 Deafness, autosomal recessive 23 -GARD:22626 Deafness, autosomal recessive 24 -GARD:22632 Deafness, autosomal recessive 25 -GARD:22599 Deafness, autosomal recessive 26 -GARD:22600 Deafness, autosomal recessive 27 -GARD:22617 Deafness, autosomal recessive 28 -GARD:22641 Deafness, autosomal recessive 29 -GARD:22583 Deafness, autosomal recessive 3 -GARD:22603 Deafness, autosomal recessive 30 -GARD:22602 Deafness, autosomal recessive 31 -GARD:22610 Deafness, autosomal recessive 32, with or without immotile sperm -GARD:22604 Deafness, autosomal recessive 33 -GARD:22609 Deafness, autosomal recessive 35 -GARD:22611 Deafness, autosomal recessive 36, with or without vestibular involvement -GARD:22605 Deafness, autosomal recessive 37 -GARD:22606 Deafness, autosomal recessive 38 -GARD:22608 Deafness, autosomal recessive 39 -GARD:22584 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct -GARD:22607 Deafness, autosomal recessive 40 -GARD:22614 Deafness, autosomal recessive 42 -GARD:22620 Deafness, autosomal recessive 44 -GARD:22628 Deafness, autosomal recessive 45 -GARD:22615 Deafness, autosomal recessive 46 -GARD:9935 Deafness, autosomal recessive 47 -GARD:22612 Deafness, autosomal recessive 48 -GARD:22619 Deafness, autosomal recessive 49 -GARD:22585 Deafness, autosomal recessive 5 -GARD:9918 Deafness, autosomal recessive 51 -GARD:22616 Deafness, autosomal recessive 53 -GARD:9919 Deafness, autosomal recessive 55 -GARD:22622 Deafness, autosomal recessive 59 -GARD:22586 Deafness, autosomal recessive 6 -GARD:22639 Deafness, autosomal recessive 61 -GARD:22618 Deafness, autosomal recessive 62 -GARD:22627 Deafness, autosomal recessive 63 -GARD:22623 Deafness, autosomal recessive 65 -GARD:22621 Deafness, autosomal recessive 66 -GARD:22624 Deafness, autosomal recessive 67 -GARD:22625 Deafness, autosomal recessive 68 -GARD:22587 Deafness, autosomal recessive 7 -GARD:22646 Deafness, autosomal recessive 70 -GARD:22630 Deafness, autosomal recessive 71 -GARD:22638 Deafness, autosomal recessive 74 -GARD:22650 Deafness, autosomal recessive 76 -GARD:22631 Deafness, autosomal recessive 77 -GARD:22633 Deafness, autosomal recessive 79 -GARD:22589 Deafness, autosomal recessive 8 -GARD:22637 Deafness, autosomal recessive 83 -GARD:22634 Deafness, autosomal recessive 84a -GARD:22647 Deafness, autosomal recessive 84b -GARD:22635 Deafness, autosomal recessive 85 -GARD:22643 Deafness, autosomal recessive 86 -GARD:22649 Deafness, autosomal recessive 88 -GARD:22640 Deafness, autosomal recessive 89 -GARD:22588 Deafness, autosomal recessive 9 -GARD:22636 Deafness, autosomal recessive 91 -GARD:22645 Deafness, autosomal recessive 93 -GARD:22661 Deafness, autosomal recessive 94 -GARD:22642 Deafness, autosomal recessive 96 -GARD:22655 Deafness, autosomal recessive 97 -GARD:22644 Deafness, autosomal recessive 98 -GARD:22663 Deafness, autosomal recessive 99 -GARD:18160 Deafness, nonsyndromic sensorineural, mitochondrial -GARD:18159 Deafness, sensorineural, autosomal-mitochondrial type -GARD:18098 Deafness, x-linked 1 -GARD:4504 Deafness, x-linked 2 -GARD:18095 Deafness, x-linked 3 -GARD:18096 Deafness, x-linked 4 -GARD:18097 Deafness, x-linked 6 -GARD:1686 Deafness-craniofacial syndrome -GARD:1684 Deafness-ear malformation-facial palsy syndrome -GARD:1687 Deafness-enamel hypoplasia-nail defects syndrome -GARD:17230 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome -GARD:1688 Deafness-epiphyseal dysplasia-short stature syndrome -GARD:4303 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome -GARD:1691 Deafness-hypogonadism syndrome -GARD:11911 Deafness-infertility syndrome -GARD:16750 Deafness-intellectual disability syndrome, Martin-Probst type -GARD:13030 Deafness-lymphedema-leukemia syndrome -GARD:1698 Deafness-oligodontia syndrome -GARD:16624 Deafness-onychodystrophy syndrome -GARD:2568 Deafness-small bowel diverticulosis-neuropathy syndrome -GARD:1705 Deafness-vitiligo-achalasia syndrome -GARD:19720 Dedifferentiated liposarcoma -GARD:21631 Deep dermatophytosis -GARD:21345 Defect in V-ATPase -GARD:21344 Defect in conserved oligomeric Golgi complex -GARD:17353 Deficiency in anterior pituitary function-variable immunodeficiency syndrome -GARD:20194 Deficient breast volume or number -GARD:5623 Dehydrated hereditary stomatocytosis -GARD:15126 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema -GARD:16152 Dehydrated hereditary stomatocytosis 2 -GARD:9204 Dejerine-Sottas syndrome -GARD:21265 Delayed encephalopathy due to carbon monoxide poisoning -GARD:1727 Delayed membranous cranial ossification -GARD:3449 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome -GARD:18730 Deletion 5q35 -GARD:18533 Delpire-mcneill syndrome -GARD:17165 Delta-beta-thalassemia -GARD:8573 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 -GARD:19371 Dementia pugilistica -GARD:1802 Demodicidosis -GARD:21952 Demyelinating hereditary motor and sensory neuropathy -GARD:19082 Dendritic cell sarcoma not otherwise specified -GARD:8317 Dendritic cell tumor -GARD:6254 Dengue fever -GARD:8555 Dense deposit disease -GARD:19470 Dense granule disease -GARD:13105 Dent disease -GARD:1804 Dent disease type 1 -GARD:10645 Dent disease type 2 -GARD:701 Dental ankylosis -GARD:5643 Dentatorubral pallidoluysian atrophy -GARD:16575 Dentin dysplasia -GARD:1807 Dentin dysplasia type I -GARD:1806 Dentin dysplasia type II -GARD:1808 Dentin dysplasia-sclerotic bones syndrome -GARD:6258 Dentinogenesis imperfecta -GARD:12796 Dentinogenesis imperfecta type 2 -GARD:10144 Dentinogenesis imperfecta type 3 -GARD:18909 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome -GARD:19532 Dentocutaneous disease with cataract -GARD:5576 Denys-Drash syndrome -GARD:1917 Dermatitis herpetiformis -GARD:10075 Dermatitis herpetiformis, familial -GARD:9569 Dermatofibrosarcoma protuberans -GARD:1813 Dermatoleukodystrophy -GARD:6263 Dermatomyositis -GARD:1814 Dermatoosteolysis, Kirghizian type -GARD:8550 Dermatopathia pigmentosa reticularis -GARD:2089 Dermatosparaxis Ehlers-Danlos syndrome -GARD:19006 Dermis disorder -GARD:19007 Dermis elastic tissue disorder -GARD:1815 Dermochondrocorneal dystrophy -GARD:22206 Dermoid or epidermoid cyst of the central nervous system -GARD:1816 Dermoodontodysplasia -GARD:19683 Dermotrichic syndrome -GARD:16451 Desbuquois dysplasia 1 -GARD:16466 Desbuquois dysplasia 2 -GARD:1818 Desbuquois syndrome -GARD:16732 Desmin-related myopathy with Mallory body-like inclusions -GARD:16870 Desminopathy -GARD:15070 Desmoid disease, hereditary -GARD:1820 Desmoid tumor -GARD:20729 Desmoplastic infantile astrocytoma/ganglioglioma -GARD:6265 Desmoplastic small round cell tumor -GARD:17215 Desmoplastic/nodular medulloblastoma -GARD:10283 Desmosterolosis -GARD:16864 Desquamative interstitial pneumonia -GARD:15298 Developmental and epileptic encephalopathy 1 -GARD:15699 Developmental and epileptic encephalopathy 11 -GARD:13318 Developmental and epileptic encephalopathy 12 -GARD:13085 Developmental and epileptic encephalopathy 13 -GARD:15886 Developmental and epileptic encephalopathy 14 -GARD:15892 Developmental and epileptic encephalopathy 15 -GARD:15945 Developmental and epileptic encephalopathy 16 -GARD:13378 Developmental and epileptic encephalopathy 17 -GARD:13676 Developmental and epileptic encephalopathy 18 -GARD:16008 Developmental and epileptic encephalopathy 19 -GARD:18617 Developmental and epileptic encephalopathy 2 -GARD:16017 Developmental and epileptic encephalopathy 21 -GARD:16024 Developmental and epileptic encephalopathy 24 -GARD:12901 Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta -GARD:12391 Developmental and epileptic encephalopathy 26 -GARD:16063 Developmental and epileptic encephalopathy 27 -GARD:16069 Developmental and epileptic encephalopathy 28 -GARD:16092 Developmental and epileptic encephalopathy 29 -GARD:15456 Developmental and epileptic encephalopathy 3 -GARD:16093 Developmental and epileptic encephalopathy 30 -GARD:16094 Developmental and epileptic encephalopathy 31 -GARD:16096 Developmental and epileptic encephalopathy 32 -GARD:16106 Developmental and epileptic encephalopathy 33 -GARD:16147 Developmental and epileptic encephalopathy 34 -GARD:16175 Developmental and epileptic encephalopathy 38 -GARD:12900 Developmental and epileptic encephalopathy 4 -GARD:16182 Developmental and epileptic encephalopathy 40 -GARD:16190 Developmental and epileptic encephalopathy 41 -GARD:16191 Developmental and epileptic encephalopathy 42 -GARD:16192 Developmental and epileptic encephalopathy 43 -GARD:16198 Developmental and epileptic encephalopathy 44 -GARD:16203 Developmental and epileptic encephalopathy 45 -GARD:16205 Developmental and epileptic encephalopathy 46 -GARD:16206 Developmental and epileptic encephalopathy 47 -GARD:16218 Developmental and epileptic encephalopathy 48 -GARD:12949 Developmental and epileptic encephalopathy 5 -GARD:16223 Developmental and epileptic encephalopathy 52 -GARD:16224 Developmental and epileptic encephalopathy 53 -GARD:16225 Developmental and epileptic encephalopathy 54 -GARD:16241 Developmental and epileptic encephalopathy 55 -GARD:16259 Developmental and epileptic encephalopathy 58 -GARD:16270 Developmental and epileptic encephalopathy 60 -GARD:16271 Developmental and epileptic encephalopathy 62 -GARD:16283 Developmental and epileptic encephalopathy 65 -GARD:16295 Developmental and epileptic encephalopathy 67 -GARD:16310 Developmental and epileptic encephalopathy 68 -GARD:16336 Developmental and epileptic encephalopathy 70 -GARD:16349 Developmental and epileptic encephalopathy 74 -GARD:16352 Developmental and epileptic encephalopathy 75 -GARD:16355 Developmental and epileptic encephalopathy 76 -GARD:16365 Developmental and epileptic encephalopathy 78 -GARD:16366 Developmental and epileptic encephalopathy 79 -GARD:16391 Developmental and epileptic encephalopathy 86 -GARD:16393 Developmental and epileptic encephalopathy 87 -GARD:16398 Developmental and epileptic encephalopathy 88 -GARD:16424 Developmental and epileptic encephalopathy 89 -GARD:15286 Developmental and epileptic encephalopathy 90 -GARD:16258 Developmental and epileptic encephalopathy 92 -GARD:16285 Developmental and epileptic encephalopathy 93 -GARD:13197 Developmental and epileptic encephalopathy 94 -GARD:16445 Developmental and epileptic encephalopathy 96 -GARD:17415 Developmental and speech delay due to SOX5 deficiency -GARD:19900 Developmental anomaly of metabolic origin -GARD:16857 Developmental defect of the eye -GARD:16261 Developmental delay and seizures with or without movement abnormalities -GARD:17322 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency -GARD:17496 Developmental delay with autism spectrum disorder and gait instability -GARD:18517 Developmental delay with variable intellectual impairment and behavioral abnormalities -GARD:17588 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency -GARD:22468 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome -GARD:9818 Developmental malformations-deafness-dystonia syndrome -GARD:1827 Dextrocardia -GARD:15289 Diabetes insipidus, nephrogenic, 1, x-linked -GARD:15058 Diabetes insipidus, nephrogenic, 2, autosomal -GARD:18602 Diabetes insipidus, neurohypophyseal -GARD:18603 Diabetes insipidus, neurohypophyseal, x-linked -GARD:16388 Diabetes mellitus, permanent neonatal, 2 -GARD:16389 Diabetes mellitus, permanent neonatal, 3 -GARD:16390 Diabetes mellitus, permanent neonatal, 4 -GARD:15482 Diabetes mellitus, transient neonatal, 2 -GARD:15490 Diabetes mellitus, transient neonatal, 3 -GARD:16580 Diabetic embryopathy -GARD:15039 Diamond-blackfan anemia 1 -GARD:15645 Diamond-blackfan anemia 10 -GARD:15879 Diamond-blackfan anemia 11 -GARD:15985 Diamond-blackfan anemia 12 -GARD:16030 Diamond-blackfan anemia 13 -GARD:15275 Diamond-blackfan anemia 14 with mandibulofacial dysostosis -GARD:15390 Diamond-blackfan anemia 15 with mandibulofacial dysostosis -GARD:16227 Diamond-blackfan anemia 16 -GARD:16228 Diamond-blackfan anemia 17 -GARD:16338 Diamond-blackfan anemia 18 -GARD:16339 Diamond-blackfan anemia 19 -GARD:8283 Diamond-blackfan anemia 2 -GARD:16340 Diamond-blackfan anemia 20 -GARD:10241 Diamond-blackfan anemia 3 -GARD:15561 Diamond-blackfan anemia 4 -GARD:15562 Diamond-blackfan anemia 5 -GARD:15568 Diamond-blackfan anemia 6 -GARD:15569 Diamond-blackfan anemia 7 -GARD:15570 Diamond-blackfan anemia 8 -GARD:15644 Diamond-blackfan anemia 9 -GARD:9797 Dianzani autoimmune lymphoproliferative disease -GARD:16674 Diaphanospondylodysostosis -GARD:2397 Diaphragmatic defect-limb deficiency-skull defect syndrome -GARD:15161 Diaphragmatic hernia 2 -GARD:15474 Diaphragmatic hernia 3 -GARD:22193 Diaphragmatic hernia-short bowel-asplenia syndrome -GARD:19393 Diaphragmatic or abdominal wall malformation -GARD:10072 Diaphyseal medullary stenosis-bone malignancy syndrome -GARD:18260 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies -GARD:18261 Diarrhea 8, secretory sodium, congenital -GARD:6275 Diastrophic dysplasia -GARD:20068 Diazoxide-resistant diffuse hyperinsulinism -GARD:18983 Diazoxide-resistant focal hyperinsulinism -GARD:17286 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency -GARD:17285 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency -GARD:21055 Diazoxide-resistant hyperinsulinism -GARD:20067 Diazoxide-sensitive diffuse hyperinsulinism -GARD:1855 Dicarboxylic aminoaciduria -GARD:20176 Didelphys uterus -GARD:21591 Didymosis aplasticosebacea -GARD:6276 Diencephalic syndrome -GARD:21407 Diencephalic-mesencephalic junction dysplasia -GARD:1859 Diethylstilbestrol syndrome -GARD:12027 Differentiated thyroid carcinoma -GARD:19110 Diffuse alveolar hemorrhage -GARD:5907 Diffuse astrocytoma -GARD:17672 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome -GARD:12686 Diffuse cutaneous mastocytosis -GARD:9751 Diffuse cutaneous systemic sclerosis -GARD:10780 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia -GARD:13075 Diffuse intrinsic pontine glioma -GARD:3178 Diffuse large B-cell lymphoma -GARD:21246 Diffuse large B-cell lymphoma of the central nervous system -GARD:21250 Diffuse large B-cell lymphoma with chronic inflammation -GARD:20739 Diffuse leptomeningeal melanocytosis -GARD:19961 Diffuse lymphatic malformation -GARD:1861 Diffuse neonatal hemangiomatosis -GARD:21289 Diffuse palmoplantar keratoderma -GARD:17595 Diffuse palmoplantar keratoderma with painful fissures -GARD:19089 Diffuse palmoplantar keratoderma-acrocyanosis syndrome -GARD:8526 Diffuse panbronchiolitis -GARD:15118 Digeorge syndrome -GARD:18684 Digestive duplication -GARD:19942 Digestive duplication cyst of the tongue -GARD:19391 Digestive tract malformation -GARD:2589 Digital extensor muscle aplasia-polyneuropathy -GARD:18807 Digitalis poisoning -GARD:15059 Digitotalar dysmorphism -GARD:4319 Dihydropteridine reductase deficiency -GARD:19 Dihydropyrimidine dehydrogenase deficiency -GARD:12347 Dihydropyrimidinuria -GARD:221 Dilated cardiomyopathy -GARD:12964 Dilated cardiomyopathy with ataxia -GARD:3373 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome -GARD:17185 Dimethylglycine dehydrogenase deficiency -GARD:1872 Diphallia -GARD:1875 Diphtheria -GARD:942 Diphyllobothriasis -GARD:1876 Diprosopus -GARD:11908 Dirofilariasis -GARD:19131 Discoid lupus erythematosus -GARD:19620 Discrete fibromuscular subaortic stenosis -GARD:16892 Discrete fixed membranous subaortic stenosis -GARD:19138 Discrete papular lichen myxedematosus -GARD:19274 Disease associated with non-acquired combined pituitary hormone deficiency -GARD:21291 Disease with diffuse palmoplantar keratoderma as a major feature -GARD:21296 Disease with focal palmoplantar keratoderma as a major feature -GARD:21300 Disease with punctate palmoplantar keratoderma as a major feature -GARD:1428 Dislocation of the hip-dysmorphism syndrome -GARD:21338 Disorder of O-N-acetylgalactosaminylglycan synthesis -GARD:21340 Disorder of O-mannosylglycan synthesis -GARD:21339 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis -GARD:21337 Disorder of O-xylosylglycan synthesis -GARD:18948 Disorder of amino acid absorption and transport -GARD:18937 Disorder of amino acid and other organic acid metabolism -GARD:21622 Disorder of asparagine metabolism -GARD:21303 Disorder of beta and omega amino acid metabolism -GARD:18949 Disorder of bile acid synthesis -GARD:21347 Disorder of bilirubin metabolism and excretion -GARD:18976 Disorder of biogenic amine metabolism and transport -GARD:18971 Disorder of branched-chain amino acid metabolism -GARD:21313 Disorder of carbohydrate absorption and transport -GARD:18946 Disorder of carbohydrate metabolism -GARD:21320 Disorder of carnitine cycle and carnitine transport -GARD:21351 Disorder of catecholamine synthesis -GARD:18951 Disorder of cobalamin metabolism and transport -GARD:21354 Disorder of copper metabolism -GARD:18972 Disorder of energy metabolism -GARD:21317 Disorder of fatty acid oxidation and ketogenesis -GARD:18954 Disorder of fatty acid oxidation and ketone body metabolism -GARD:21131 Disorder of folate metabolism and transport -GARD:21307 Disorder of fructose metabolism -GARD:21341 Disorder of fucoglycosan synthesis -GARD:21308 Disorder of galactose metabolism -GARD:18955 Disorder of gamma-aminobutyric acid metabolism -GARD:21156 Disorder of glutamine metabolism -GARD:18958 Disorder of glycerol metabolism -GARD:21306 Disorder of glycolysis -GARD:21342 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation -GARD:21312 Disorder of glyoxylate metabolism -GARD:18959 Disorder of histidine metabolism -GARD:21355 Disorder of iron metabolism and transport -GARD:18960 Disorder of ketolysis -GARD:21821 Disorder of keton body transport -GARD:21316 Disorder of lipid absorption and transport -GARD:21314 Disorder of lipid metabolism -GARD:21155 Disorder of lysine and hydroxylysine metabolism -GARD:18974 Disorder of lysosomal amino acid transport -GARD:21334 Disorder of lysosomal-related organelles -GARD:21357 Disorder of magnesium transport -GARD:21358 Disorder of manganese transport -GARD:21528 Disorder of melanin metabolism -GARD:21349 Disorder of metabolite absorption and transport -GARD:18953 Disorder of methionine cycle and sulfur amino acid metabolism -GARD:21353 Disorder of mineral absorption and transport -GARD:21343 Disorder of multiple glycosylation -GARD:18950 Disorder of neurotransmitter metabolism and transport -GARD:21305 Disorder of neutral amino acid transport -GARD:21158 Disorder of ornithine metabolism -GARD:18961 Disorder of ornithine or proline metabolism -GARD:21352 Disorder of other vitamins and cofactors metabolism and transport -GARD:18962 Disorder of pentose phosphate metabolism -GARD:18963 Disorder of peptide metabolism -GARD:12476 Disorder of peroxisomal alpha-, beta- and omega-oxidation -GARD:18964 Disorder of phenylalanin or tyrosine metabolism -GARD:21126 Disorder of phenylalanine metabolism -GARD:21516 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis -GARD:21517 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -GARD:21518 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement -GARD:21519 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement -GARD:18790 Disorder of plasmalogens biosynthesis -GARD:21346 Disorder of porphyrin and heme metabolism -GARD:21157 Disorder of proline metabolism -GARD:21335 Disorder of protein N-glycosylation -GARD:21336 Disorder of protein O-glycosylation -GARD:21348 Disorder of pterin metabolism -GARD:18965 Disorder of purine metabolism -GARD:18980 Disorder of purine or pyrimidine metabolism -GARD:18966 Disorder of pyridoxine metabolism -GARD:18967 Disorder of pyrimidine metabolism -GARD:18968 Disorder of serine or glycine metabolism -GARD:19147 Disorder of sex development -GARD:21477 Disorder of sex development of gynecological interest -GARD:4550 Disorder of sex development-intellectual disability syndrome -GARD:21332 Disorder of sialic acid metabolism -GARD:18970 Disorder of the gamma-glutamyl cycle -GARD:21231 Disorder of thiamine metabolism and transport -GARD:21154 Disorder of tryptophan metabolism -GARD:21127 Disorder of tyrosine metabolism -GARD:7837 Disorder of urea cycle metabolism and ammonia detoxification -GARD:21350 Disorder of vitamin and non-protein cofactor absorption and transport -GARD:21356 Disorder of zinc metabolism and transport -GARD:22293 Disorder with multisystemic involvement and glomerulopathy -GARD:22298 Disorder with multisystemic involvement and primary lymphedema -GARD:22113 Disorder with optic nerve compression -GARD:21841 Disorders of pentose/polyol metabolism -GARD:21132 Disorders of vitamin D metabolism -GARD:1883 Dissecting cellulitis of the scalp -GARD:12843 Disseminated peritoneal leiomyomatosis -GARD:10983 Disseminated superficial actinic porokeratosis -GARD:17244 Distal 16p11.2 microdeletion syndrome -GARD:10996 Distal 17p13.1 microdeletion syndrome -GARD:20776 Distal 17p13.3 microdeletion syndrome -GARD:17245 Distal 22q11.2 microdeletion syndrome -GARD:20780 Distal 22q11.2 microduplication syndrome -GARD:17218 Distal 7q11.23 microdeletion syndrome -GARD:20770 Distal 7q11.23 microduplication syndrome -GARD:17350 Distal Xq28 microduplication syndrome -GARD:17653 Distal anoctaminopathy -GARD:786 Distal arthrogryposis -GARD:787 Distal arthrogryposis type 1 -GARD:17212 Distal arthrogryposis type 10 -GARD:13059 Distal arthrogryposis type 5D -GARD:12683 Distal hereditary motor neuropathy -GARD:16953 Distal hereditary motor neuropathy type 1 -GARD:16954 Distal hereditary motor neuropathy type 2 -GARD:16955 Distal hereditary motor neuropathy type 5 -GARD:16960 Distal hereditary motor neuropathy type 7 -GARD:10133 Distal hereditary motor neuropathy, Jerash type -GARD:3252 Distal limb deficiencies-micrognathia syndrome -GARD:1323 Distal monosomy 10p -GARD:3711 Distal monosomy 10q -GARD:21078 Distal monosomy 12p -GARD:19328 Distal monosomy 12q -GARD:16571 Distal monosomy 13q -GARD:19329 Distal monosomy 14q -GARD:16572 Distal monosomy 15q -GARD:10972 Distal monosomy 17q -GARD:19326 Distal monosomy 19p13.3 -GARD:16640 Distal monosomy 1q -GARD:3750 Distal monosomy 3p -GARD:19327 Distal monosomy 4q -GARD:16845 Distal monosomy 6p -GARD:19325 Distal monosomy 7p -GARD:18731 Distal monosomy 7q36 -GARD:18732 Distal monosomy 9p -GARD:18699 Distal myopathy -GARD:17080 Distal myopathy with anterior tibial onset -GARD:16666 Distal myopathy with posterior leg and anterior hand involvement -GARD:17900 Distal myopathy, Tateyama type -GARD:5552 Distal myopathy, Welander type -GARD:16871 Distal myotilinopathy -GARD:21656 Distal nebulin myopathy -GARD:4667 Distal renal tubular acidosis -GARD:12354 Distal renal tubular acidosis with anemia -GARD:16956 Distal spinal muscular atrophy type 3 -GARD:5074 Distal symphalangism -GARD:17424 Distal tetrasomy 15q -GARD:19317 Distal trisomy 10q -GARD:19318 Distal trisomy 11q -GARD:19319 Distal trisomy 13q -GARD:18739 Distal trisomy 14q -GARD:18740 Distal trisomy 15q -GARD:19320 Distal trisomy 16q -GARD:18794 Distal trisomy 17q -GARD:18742 Distal trisomy 18q -GARD:18743 Distal trisomy 19q -GARD:19303 Distal trisomy 1p36 -GARD:19321 Distal trisomy 20q -GARD:19322 Distal trisomy 22q -GARD:19304 Distal trisomy 2p -GARD:19310 Distal trisomy 2q -GARD:19305 Distal trisomy 3p -GARD:19312 Distal trisomy 4q -GARD:19313 Distal trisomy 5q -GARD:18745 Distal trisomy 6p -GARD:19314 Distal trisomy 6q -GARD:19307 Distal trisomy 7p -GARD:19315 Distal trisomy 8q -GARD:19316 Distal trisomy 9q -GARD:1891 Distomatosis -GARD:5092 Dobrow syndrome -GARD:17164 Dominant beta-thalassemia -GARD:17186 Dominant hypophosphatemia with nephrolithiasis or osteoporosis -GARD:1899 Donnai-Barrow syndrome -GARD:12144 Dopa-responsive dystonia -GARD:10365 Dopa-responsive dystonia due to sepiapterin reductase deficiency -GARD:1903 Dopamine beta-hydroxylase deficiency -GARD:1907 Double outlet left ventricle -GARD:1908 Double outlet right ventricle -GARD:21756 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy -GARD:19617 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect -GARD:21755 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect -GARD:19615 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis -GARD:19616 Double outlet right ventricle with subpulmonary ventricular septal defect -GARD:1910 Double uterus-hemivagina-renal agenesis syndrome -GARD:19268 Double-orifice mitral valve -GARD:9775 Dowling-Degos disease -GARD:15944 Dowling-degos disease 2 -GARD:16001 Dowling-degos disease 3 -GARD:16002 Dowling-degos disease 4 -GARD:10247 Down syndrome -GARD:6286 Dracunculiasis -GARD:10430 Dravet syndrome -GARD:20942 Drug or radiation exposure-related interstitial lung disease -GARD:13629 Drug reaction with eosinophilia and systemic symptoms -GARD:21026 Drug- or toxin-induced pulmonary arterial hypertension -GARD:19102 Drug-induced autoimmune hemolytic anemia -GARD:19126 Drug-induced localized lipodystrophy -GARD:20599 Drug-induced lupus erythematosus -GARD:20697 Drug-induced vasculitis -GARD:19378 Drug-related renal tubular dysgenesis -GARD:18842 Duane anomaly-myopathy-scoliosis syndrome -GARD:6288 Duane retraction syndrome -GARD:10763 Duane retraction syndrome 1 -GARD:9966 Duane retraction syndrome 2 -GARD:10691 Duane retraction syndrome 3 with or without deafness -GARD:17968 Duane retraction syndrome with congenital deafness -GARD:2793 Dubin-Johnson syndrome -GARD:6290 Dubowitz syndrome -GARD:18686 Duchenne and Becker muscular dystrophy -GARD:6291 Duchenne muscular dystrophy -GARD:54 Duodenal atresia -GARD:19751 Duodenal neuroendocrine tumor -GARD:19164 Duplication of the esophagus -GARD:21381 Duplication of the pituitary gland -GARD:1975 Duplication of urethra -GARD:19368 Dural sinus malformation -GARD:6295 Dyggve-Melchior-Clausen disease -GARD:15290 Dyggve-melchior-clausen syndrome, x-linked -GARD:6703 Dysbetalipoproteinemia -GARD:1994 Dyschondrosteosis-nephritis syndrome -GARD:334 Dyschromatosis symmetrica hereditaria -GARD:1996 Dyschromatosis universalis hereditaria -GARD:15581 Dyschromatosis universalis hereditaria 2 -GARD:15959 Dyschromatosis universalis hereditaria 3 -GARD:10640 Dysembryoplastic neuroepithelial tumor -GARD:1998 Dysequilibrium syndrome -GARD:8574 Dysferlin-related limb-girdle muscular dystrophy R2 -GARD:10905 Dyskeratosis congenita -GARD:6299 Dyskeratosis congenita, autosomal dominant 1 -GARD:15741 Dyskeratosis congenita, autosomal dominant 2 -GARD:15742 Dyskeratosis congenita, autosomal dominant 3 -GARD:16136 Dyskeratosis congenita, autosomal dominant 6 -GARD:6300 Dyskeratosis congenita, autosomal recessive 1 -GARD:15739 Dyskeratosis congenita, autosomal recessive 2 -GARD:15740 Dyskeratosis congenita, autosomal recessive 3 -GARD:15917 Dyskeratosis congenita, autosomal recessive 5 -GARD:16095 Dyskeratosis congenita, autosomal recessive 6 -GARD:2007 Dyskeratosis congenita, x-linked -GARD:2009 Dysmorphism-cleft palate-loose skin syndrome -GARD:17328 Dysmorphism-conductive hearing loss-heart defect syndrome -GARD:18760 Dysmorphism-pectus carinatum-joint laxity syndrome -GARD:18764 Dysmorphism-short stature-deafness-disorder of sex development syndrome -GARD:2012 Dysosteosclerosis -GARD:21571 Dysostosis -GARD:21725 Dysostosis of genetic origin -GARD:21726 Dysostosis of genetic origin with limb anomaly as a major feature -GARD:18895 Dysostosis with brachydactyly -GARD:22023 Dysostosis with brachydactyly with extraskeletal manifestations -GARD:22022 Dysostosis with brachydactyly without extraskeletal manifestations -GARD:21187 Dysostosis with combined reduction defects of upper and lower limbs -GARD:21573 Dysostosis with limb and face anomalies as a major feature -GARD:21572 Dysostosis with limb anomaly as a major feature -GARD:19207 Dysostosis with predominant craniofacial involvement -GARD:19208 Dysostosis with predominant vertebral and costal involvement -GARD:2016 Dysostosis, Stanescu type -GARD:19641 Dysphagia lusoria -GARD:2019 Dysplasia epiphysealis hemimelica -GARD:20098 Dysplasia of head of femur, Meyer type -GARD:2022 Dysplastic cortical hyperostosis -GARD:3438 Dysraphism-cleft lip/palate-limb reduction defects syndrome -GARD:9810 Dyssegmental dysplasia, Rolland-Desbuquois type -GARD:2026 Dyssegmental dysplasia, Silverman-Handmaker type -GARD:19051 Dysspondyloenchondromatosis -GARD:15061 Dystonia 1, torsion, autosomal dominant -GARD:18616 Dystonia 11, myoclonic -GARD:10539 Dystonia 16 -GARD:16103 Dystonia 26, myoclonic -GARD:22359 Dystonia 28 -GARD:21739 Dystonia-aphonia syndrome -GARD:17958 Dystonia-parkinsonism-hypermanganesemia syndrome -GARD:2150 Dystrophic epidermolysis bullosa -GARD:16779 Dystrophic epidermolysis bullosa pruriginosa -GARD:10514 EAST syndrome -GARD:17349 EDICT syndrome -GARD:2076 EEC syndrome -GARD:19512 EEC syndrome and related disorders -GARD:2078 EEM syndrome -GARD:22485 EGF-related primary hypomagnesemia with intellectual disability -GARD:21994 EMILIN-1-related connective tissue disease -GARD:18027 EN1-related dorsoventral syndrome -GARD:22302 EPHB4-related lymphatic-related hydrops fetalis -GARD:17913 EVEN-plus syndrome -GARD:6309 Eales disease -GARD:2033 Ear-patella-short stature syndrome -GARD:9255 Early infantile epileptic encephalopathy -GARD:16581 Early myoclonic encephalopathy -GARD:17482 Early-onset Lafora body disease -GARD:10199 Early-onset X-linked optic atrophy -GARD:1140 Early-onset anterior polar cataract -GARD:19487 Early-onset ataxia with dementia -GARD:22465 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome -GARD:12798 Early-onset autosomal dominant Alzheimer disease -GARD:22246 Early-onset calcifying leukoencephalopathy-skeletal dysplasia -GARD:2600 Early-onset cerebellar ataxia with retained tendon reflexes -GARD:17897 Early-onset epilepsy-intellectual disability-brain anomalies syndrome -GARD:21134 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation -GARD:17687 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome -GARD:22243 Early-onset familial hypoaldosteronism -GARD:2027 Early-onset generalized limb-onset dystonia -GARD:13155 Early-onset lamellar cataract -GARD:17324 Early-onset myopathy with fatal cardiomyopathy -GARD:12199 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome -GARD:16801 Early-onset non-syndromic cataract -GARD:16887 Early-onset nuclear cataract -GARD:19685 Early-onset obesity-hyperphagia-severe developmental delay syndrome -GARD:3203 Early-onset parkinsonism-intellectual disability syndrome -GARD:16888 Early-onset partial cataract -GARD:16889 Early-onset posterior polar cataract -GARD:21846 Early-onset posterior subcapsular cataract -GARD:17911 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome -GARD:2995 Early-onset progressive encephalopathy with migrant continuous myoclonus -GARD:17923 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome -GARD:17914 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome -GARD:17523 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome -GARD:19352 Early-onset schizophrenia -GARD:17942 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome -GARD:17409 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome -GARD:16885 Early-onset sutural cataract -GARD:1898 Early-onset zonular cataract -GARD:17613 East Texas bleeding disorder -GARD:10821 Eastern equine encephalitis -GARD:20078 Eating reflex epilepsy -GARD:2035 Ebola hemorrhagic fever -GARD:6313 Ebstein malformation of the tricuspid valve -GARD:19650 Ectasia of the left atrial appendage -GARD:19649 Ectasia of the right atrial appendage -GARD:18591 Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant -GARD:15163 Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive -GARD:18592 Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant -GARD:15885 Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive -GARD:18593 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type -GARD:16361 Ectodermal dysplasia 15, hypohidrotic/hair type -GARD:18062 Ectodermal dysplasia 4, hair/nail type -GARD:18063 Ectodermal dysplasia 5, hair/nail type -GARD:18064 Ectodermal dysplasia 6, hair/nail type -GARD:18065 Ectodermal dysplasia 7, hair/nail type -GARD:18066 Ectodermal dysplasia 9, hair/nail type -GARD:15542 Ectodermal dysplasia and immunodeficiency 2 -GARD:6317 Ectodermal dysplasia syndrome -GARD:10526 Ectodermal dysplasia with natal teeth, Turnpenny type -GARD:2055 Ectodermal dysplasia, trichoodontoonychial type -GARD:2045 Ectodermal dysplasia-blindness syndrome -GARD:17199 Ectodermal dysplasia-cutaneous syndactyly syndrome -GARD:16578 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome -GARD:9723 Ectodermal dysplasia-sensorineural deafness syndrome -GARD:9705 Ectodermal dysplasia-skin fragility syndrome -GARD:17198 Ectodermal dysplasia-syndactyly syndrome -GARD:21877 Ectopia cordis -GARD:15062 Ectopia lentis 1, isolated, autosomal dominant -GARD:2060 Ectopia lentis 2, isolated, autosomal recessive -GARD:15164 Ectopia lentis et pupillae -GARD:3999 Ectopia lentis-chorioretinal dystrophy-myopia syndrome -GARD:20622 Ectopic aldosterone-producing tumor -GARD:22030 Ectrodactyly with and without other manifestations -GARD:15063 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 -GARD:2068 Ectrodactyly-polydactyly syndrome -GARD:2074 Edinburgh malformation syndrome -GARD:6322 Ehlers-Danlos syndrome -GARD:17156 Ehlers-Danlos/osteogenesis imperfecta syndrome -GARD:16256 Ehlers-danlos syndrome, arthrochalasia type, 2 -GARD:15982 Ehlers-danlos syndrome, musculocontractural type, 2 -GARD:16209 Ehlers-danlos syndrome, periodontal type, 2 -GARD:15947 Ehlers-danlos syndrome, spondylodysplastic type, 2 -GARD:2092 Ehrlichiosis -GARD:16698 Eiken syndrome -GARD:6323 Eisenmenger syndrome -GARD:12716 Elastoderma -GARD:20580 Elastofibroma dorsi -GARD:20582 Elastoma -GARD:10103 Elastosis perforans serpiginosa -GARD:15528 Elliptocytosis 1 -GARD:15064 Elliptocytosis 2 -GARD:16273 Elliptocytosis 3 -GARD:1301 Ellis Van Creveld syndrome -GARD:9835 Emanuel syndrome -GARD:5140 Embryonal carcinoma -GARD:18836 Embryonal carcinoma of the central nervous system -GARD:4702 Embryonal rhabdomyosarcoma -GARD:20716 Embryonal tumor of neuroepithelial tissue -GARD:6329 Emery-Dreifuss muscular dystrophy -GARD:2593 Emery-Nelson syndrome -GARD:10230 Emery-dreifuss muscular dystrophy 2, autosomal dominant -GARD:18209 Emery-dreifuss muscular dystrophy 3, autosomal recessive -GARD:18206 Emery-dreifuss muscular dystrophy 4, autosomal dominant -GARD:18207 Emery-dreifuss muscular dystrophy 5, autosomal dominant -GARD:18208 Emery-dreifuss muscular dystrophy 7, autosomal dominant -GARD:646 Enamel-renal syndrome -GARD:19357 Encephalitis -GARD:6332 Encephalitis lethargica -GARD:20987 Encephaloclastic disorder -GARD:2108 Encephalocraniocutaneous lipomatosis -GARD:22192 Encephalopathy due to mitochondrial and peroxisomal fission defect -GARD:12505 Encephalopathy due to prosaposin deficiency -GARD:16549 Encephalopathy due to sulfite oxidase deficiency -GARD:15853 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 -GARD:15854 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 -GARD:16131 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 -GARD:16267 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 -GARD:18384 Encephalopathy, acute, infection-induced, susceptibility to, 4 -GARD:17470 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome -GARD:19635 Encircling double aortic arch -GARD:6336 Endocardial fibroelastosis -GARD:17094 Endocrine-cerebro-osteodysplasia syndrome -GARD:20220 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature -GARD:6339 Endometrial stromal sarcoma -GARD:21893 Endometrioid carcinoma of ovary -GARD:20333 Endophthalmitis -GARD:390 Endosteal hyperostosis, Worth type -GARD:1195 Endosteal sclerosis-cerebellar hypoplasia syndrome -GARD:18561 Endove syndrome, limb-brain type -GARD:18560 Endove syndrome, limb-only type -GARD:20554 Energy metabolism disorder with epilepsy -GARD:2123 Eng-Strom syndrome -GARD:16662 Enlarged parietal foramina -GARD:16729 Enteric anendocrinosis -GARD:9809 Enteropathy-associated T-cell lymphoma -GARD:10969 Enthesitis-related juvenile idiopathic arthritis -GARD:21886 Eosinophilic angiocentric fibrosis -GARD:21715 Eosinophilic colitis -GARD:6351 Eosinophilic fasciitis -GARD:9142 Eosinophilic gastroenteritis -GARD:6111 Eosinophilic granulomatosis with polyangiitis -GARD:16527 Ependymal tumor -GARD:20720 Ependymoblastoma -GARD:6353 Ependymoma -GARD:19671 Epiblepharon -GARD:20625 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome -GARD:19032 Epidemic typhus -GARD:18993 Epidermal appendage anomaly -GARD:18984 Epidermal disease -GARD:18813 Epidermal nevus syndrome -GARD:6357 Epidermodysplasia verruciformis -GARD:16334 Epidermodysplasia verruciformis, susceptibility to, 3 -GARD:16337 Epidermodysplasia verruciformis, susceptibility to, 5 -GARD:15291 Epidermodysplasia verruciformis, x-linked -GARD:6360 Epidermolysis bullosa acquisita -GARD:10752 Epidermolysis bullosa simplex -GARD:17690 Epidermolysis bullosa simplex due to BP230 deficiency -GARD:17691 Epidermolysis bullosa simplex due to exophilin 5 deficiency -GARD:18766 Epidermolysis bullosa simplex with anodontia/hypodontia -GARD:16990 Epidermolysis bullosa simplex with circinate migratory erythema -GARD:22387 Epidermolysis bullosa simplex with extracutaneous involvement -GARD:9737 Epidermolysis bullosa simplex with mottled pigmentation -GARD:2137 Epidermolysis bullosa simplex with muscular dystrophy -GARD:16991 Epidermolysis bullosa simplex with pyloric atresia -GARD:22386 Epidermolysis bullosa simplex without extracutaneous involvement -GARD:22016 Epidermolytic nevus -GARD:2826 Epidermolytic palmoplantar keratoderma -GARD:19943 Epignathus -GARD:21277 Epilepsy and/or ataxia with myoclonus as a major feature -GARD:20083 Epilepsy syndrome -GARD:19087 Epilepsy with myoclonic absences -GARD:18057 Epilepsy, childhood absence, susceptibility to, 1 -GARD:18061 Epilepsy, childhood absence, susceptibility to, 5 -GARD:18060 Epilepsy, childhood absence, susceptibility to, 6 -GARD:18082 Epilepsy, familial adult myoclonic, 1 -GARD:18083 Epilepsy, familial adult myoclonic, 2 -GARD:18084 Epilepsy, familial adult myoclonic, 3 -GARD:18085 Epilepsy, familial adult myoclonic, 4 -GARD:18086 Epilepsy, familial adult myoclonic, 5 -GARD:18202 Epilepsy, familial focal, with variable foci 1 -GARD:18203 Epilepsy, familial focal, with variable foci 2 -GARD:18204 Epilepsy, familial focal, with variable foci 3 -GARD:18279 Epilepsy, familial temporal lobe, 3 -GARD:15523 Epilepsy, familial temporal lobe, 4 -GARD:18280 Epilepsy, familial temporal lobe, 5 -GARD:18281 Epilepsy, familial temporal lobe, 6 -GARD:16112 Epilepsy, familial temporal lobe, 7 -GARD:16116 Epilepsy, familial temporal lobe, 8 -GARD:18286 Epilepsy, hot water, 1 -GARD:18287 Epilepsy, hot water, 2 -GARD:18059 Epilepsy, idiopathic generalized, susceptibility to, 13 -GARD:16269 Epilepsy, juvenile myoclonic, susceptibility to, 10 -GARD:15784 Epilepsy, juvenile myoclonic, susceptibility to, 9 -GARD:15319 Epilepsy, nocturnal frontal lobe, 1 -GARD:15352 Epilepsy, nocturnal frontal lobe, 2 -GARD:15380 Epilepsy, nocturnal frontal lobe, 3 -GARD:15481 Epilepsy, nocturnal frontal lobe, 4 -GARD:15891 Epilepsy, nocturnal frontal lobe, 5 -GARD:15556 Epilepsy, progressive myoclonic, 1b -GARD:836 Epilepsy-microcephaly-skeletal dysplasia syndrome -GARD:2168 Epilepsy-telangiectasia syndrome -GARD:17532 Epileptic encephalopathy with global cerebral demyelination -GARD:9791 Epiphyseal dysplasia, multiple, 2 -GARD:9792 Epiphyseal dysplasia, multiple, 3 -GARD:13376 Epiphyseal dysplasia, multiple, 6 -GARD:2178 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome -GARD:4189 Epiphyseal stippling-osteoclastic hyperplasia syndrome -GARD:21666 Epiphysiolysis of the hip -GARD:16641 Episodic ataxia type 1 -GARD:16702 Episodic ataxia type 3 -GARD:16703 Episodic ataxia type 4 -GARD:17113 Episodic ataxia type 5 -GARD:17107 Episodic ataxia type 6 -GARD:17108 Episodic ataxia type 7 -GARD:17665 Episodic ataxia with slurred speech -GARD:15506 Episodic kinesigenic dyskinesia 2 -GARD:18440 Episodic pain syndrome, familial, 2 -GARD:9732 Epithelial basement membrane dystrophy -GARD:17338 Epithelial recurrent erosion dystrophy -GARD:21771 Epithelial tumor of anal canal -GARD:21766 Epithelial tumor of the appendix -GARD:20014 Epithelioid hemangioendothelioma -GARD:10181 Epithelioid sarcoma -GARD:20750 Epithelioid trophoblastic tumor -GARD:21148 Epstein-Barr Virus-associated carcinoma -GARD:21149 Epstein-Barr Virus-associated mesenchymal tumor -GARD:21146 Epstein-Barr Virus-related tumor -GARD:21362 Epstein-Barr virus-associated gastric carcinoma -GARD:21147 Epstein-Barr virus-associated malignant lymphoproliferative disorder -GARD:21150 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly -GARD:6369 Erdheim-Chester disease -GARD:407 Ermine phenotype -GARD:2188 Erosive pustular dermatosis of the scalp -GARD:8653 Erythema elevatum diutinum -GARD:22049 Erythema multiforme major -GARD:17157 Erythema palmare hereditarium -GARD:17392 Erythrocyte galactose epimerase deficiency -GARD:18355 Erythrocytosis, familial, 3 -GARD:18356 Erythrocytosis, familial, 4 -GARD:6878 Erythroderma desquamativum -GARD:18986 Erythrokeratoderma -GARD:1722 Erythrokeratoderma ''en cocardes'' -GARD:10923 Erythrokeratoderma variabilis progressiva -GARD:16528 Erythrokeratodermia variabilis -GARD:18588 Erythrokeratodermia variabilis et progressiva 2 -GARD:18589 Erythrokeratodermia variabilis et progressiva 3 -GARD:18590 Erythrokeratodermia variabilis et progressiva 4 -GARD:18669 Erythrokeratodermia variabilis et progressiva 5 -GARD:18672 Erythrokeratodermia variabilis et progressiva 6 -GARD:18674 Erythrokeratodermia variabilis et progressiva 7 -GARD:21950 Erythrokeratodermia-cardiomyopathy syndrome -GARD:15066 Erythroleukemia, familial, susceptibility to -GARD:10948 Erythropoietic uroporphyria associated with myeloid malignancy -GARD:6381 Esophageal atresia -GARD:19744 Esophageal duplication cyst -GARD:19095 Esophageal malformation -GARD:6471 Essential fructosuria -GARD:19611 Essential iris atrophy -GARD:6594 Essential thrombocythemia -GARD:2197 Esthesioneuroblastoma -GARD:16548 Estrogen resistance syndrome -GARD:18805 Ethylene glycol poisoning -GARD:2198 Ethylmalonic encephalopathy -GARD:19674 Euryblepharon -GARD:21940 Euthyroid Graves orbitopathy -GARD:22401 Euthyroid dysprealbuminemic hyperthyroxinemia -GARD:6389 Evans syndrome -GARD:20193 Excess breast volume or number -GARD:20765 Exercise intolerance with lactic acidosis -GARD:9932 Exercise-induced hyperinsulinism -GARD:21936 Exercise-induced malignant hyperthermia -GARD:17329 Exfoliative ichthyosis -GARD:2204 Exostoses, multiple, type i -GARD:2205 Exostoses, multiple, type ii -GARD:2206 Exostoses, multiple, type iii -GARD:2202 Exostoses-anetodermia-brachydactyly type E syndrome -GARD:20943 Exposure-related interstitial lung disease -GARD:2207 Exstrophy-epispadias complex -GARD:21842 Extensive peripapillary myelinated nerve fibers -GARD:2597 Extensor tendons of finger anomalies -GARD:16969 External auditory canal aplasia/hypoplasia -GARD:4638 External auditory canal atresia-vertical talus-hypertelorism syndrome -GARD:22003 Extracranial carotid artery aneurysm -GARD:18871 Extracutaneous mastocytoma -GARD:9325 Extragonadal germ cell tumor -GARD:2005 Extragonadal germinoma -GARD:19706 Extragonadal non-dysgerminomatous germ cell tumor -GARD:18711 Extragonadal teratoma -GARD:21091 Extralobar congenital pulmonary sequestration -GARD:4192 Extramammary Paget disease -GARD:19740 Extramedullary soft tissue plasmacytoma -GARD:19730 Extraneural perineurioma -GARD:7041 Extranodal nasal NK/T cell lymphoma -GARD:19886 Extrapelvic endometriosis -GARD:17600 Extraskeletal Ewing sarcoma -GARD:17105 Extraskeletal myxoid chondrosarcoma -GARD:2213 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome -GARD:20727 Extraventricular neurocytoma -GARD:15068 Exudative vitreoretinopathy 1 -GARD:15292 Exudative vitreoretinopathy 2, x-linked -GARD:15386 Exudative vitreoretinopathy 3 -GARD:15337 Exudative vitreoretinopathy 4 -GARD:15646 Exudative vitreoretinopathy 5 -GARD:16118 Exudative vitreoretinopathy 6 -GARD:16238 Exudative vitreoretinopathy 7 -GARD:10054 Eye defects-arachnodactyly-cardiopathy syndrome -GARD:2216 Eyebrow duplication-syndactyly syndrome -GARD:19498 Eyelid border anomaly -GARD:22454 F12-associated cold autoinflammatory syndrome -GARD:16935 F12-related hereditary angioedema with normal C1Inh -GARD:15004 FADD-related immunodeficiency -GARD:17026 FASTKD2-related infantile mitochondrial encephalomyopathy -GARD:2622 FATCO syndrome -GARD:21717 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome -GARD:2317 FG syndrome type 1 -GARD:10965 FGFR2-related bent bone dysplasia -GARD:19185 FGFR3-related chondrodysplasia -GARD:12533 FKRP-related limb-girdle muscular dystrophy R9 -GARD:1096 FLNA-related X-linked myxomatous valvular dysplasia -GARD:2346 FLOTCH syndrome -GARD:12825 FOXG1 syndrome -GARD:20771 FOXG1 syndrome due to 14q12 microdeletion -GARD:22402 FOXG1 syndrome due to intragenic alteration -GARD:2378 FRAXE intellectual disability -GARD:19769 FRAXF syndrome -GARD:13472 FTH1-related iron overload -GARD:6400 Fabry disease -GARD:12663 Facial arteriovenous malformation -GARD:19964 Facial cleft -GARD:19938 Facial dermoid cyst -GARD:21984 Facial diplegia with paresthesias -GARD:2221 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome -GARD:17311 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion -GARD:17839 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation -GARD:18019 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome -GARD:17528 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome -GARD:17688 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome -GARD:2222 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome -GARD:17422 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome -GARD:4778 Facial dysmorphism-shawl scrotum-joint laxity syndrome -GARD:12036 Facial onset sensory and motor neuronopathy -GARD:18436 Facial paresis, hereditary congenital, 2 -GARD:18437 Facial paresis, hereditary congenital, 3 -GARD:2230 Faciocardiorenal syndrome -GARD:9941 Facioscapulohumeral dystrophy -GARD:15087 Facioscapulohumeral muscular dystrophy 1 -GARD:15088 Facioscapulohumeral muscular dystrophy 2, digenic -GARD:22414 Factor V Amsterdam bleeding disorder -GARD:22415 Factor V Atlanta bleeding disorder -GARD:22413 Factor V short isoforms-related bleeding disorder -GARD:18630 Factor v and factor viii, combined deficiency of, 1 -GARD:18632 Factor v and factor viii, combined deficiency of, 2 -GARD:18631 Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor -GARD:15633 Factor xiii, a subunit, deficiency of -GARD:15635 Factor xiii, b subunit, deficiency of -GARD:893 Fallot complex-intellectual disability-growth delay syndrome -GARD:21084 Familial Alzheimer-like prion disease -GARD:17874 Familial Chilblain lupus -GARD:17973 Familial GPIHBP1 deficiency -GARD:4011 Familial LCAT deficiency -GARD:6421 Familial Mediterranean fever -GARD:7610 Familial Scheuermann disease -GARD:9181 Familial abdominal aortic aneurysm -GARD:13232 Familial acute necrotizing encephalopathy -GARD:6408 Familial adenomatous polyposis -GARD:20786 Familial adenomatous polyposis due to 5q22.2 microdeletion -GARD:16839 Familial adrenal hypoplasia with absent pituitary luteinizing hormone -GARD:9242 Familial advanced sleep-phase syndrome -GARD:5761 Familial afibrinogenemia -GARD:20585 Familial anetoderma -GARD:17089 Familial angiolipomatosis -GARD:1654 Familial aortic dissection -GARD:6704 Familial apolipoprotein A5 deficiency -GARD:759 Familial apolipoprotein C-II deficiency -GARD:3054 Familial articular hypermobility syndrome -GARD:9740 Familial atrial fibrillation -GARD:139 Familial atrial myxoma -GARD:17729 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease -GARD:9281 Familial atypical multiple mole melanoma syndrome -GARD:10914 Familial avascular necrosis of femoral head -GARD:6559 Familial benign chronic pemphigus -GARD:1522 Familial benign copper deficiency -GARD:18651 Familial benign flecked retina -GARD:17670 Familial bicuspid aortic valve -GARD:1292 Familial calcium pyrophosphate deposition -GARD:215 Familial caudal dysgenesis -GARD:17822 Familial cavitary optic disc anomaly -GARD:13641 Familial cerebral cavernous malformation -GARD:17161 Familial cerebral saccular aneurysm -GARD:18823 Familial cervical artery dissection -GARD:6414 Familial chylomicronemia syndrome -GARD:17177 Familial clubfoot due to 17q23.1q23.2 microduplication -GARD:17336 Familial clubfoot due to 5q31 microdeletion -GARD:17337 Familial clubfoot due to PITX1 point mutation -GARD:17093 Familial clubfoot with or without associated lower limb anomalies -GARD:15051 Familial cold autoinflammatory syndrome 1 -GARD:16061 Familial cold autoinflammatory syndrome 4 -GARD:9535 Familial cold urticaria -GARD:21840 Familial colorectal cancer Type X -GARD:12551 Familial congenital mirror movements -GARD:17784 Familial congenital nasolacrimal duct obstruction -GARD:10355 Familial congenital palsy of trochlear nerve -GARD:17444 Familial cortical myoclonus -GARD:9799 Familial cutaneous collagenoma -GARD:17413 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome -GARD:9707 Familial cylindromatosis -GARD:1823 Familial developmental dysphasia -GARD:16735 Familial digital arthropathy-brachydactyly -GARD:20525 Familial dilated cardiomyopathy -GARD:18615 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation -GARD:1912 Familial drusen -GARD:7581 Familial dysautonomia -GARD:2004 Familial dysfibrinogenemia -GARD:12722 Familial dyskinesia and facial myokymia -GARD:10037 Familial encephalopathy with neuroserpin inclusion bodies -GARD:12684 Familial episodic pain syndrome -GARD:17619 Familial episodic pain syndrome with predominantly lower limb involvement -GARD:17618 Familial episodic pain syndrome with predominantly upper body involvement -GARD:9168 Familial expansile osteolysis -GARD:1613 Familial exudative vitreoretinopathy -GARD:13295 Familial focal epilepsy with variable foci -GARD:21932 Familial gastric type 1 neuroendocrine tumor -GARD:17158 Familial generalized lentiginosis -GARD:16913 Familial gestational hyperthyroidism -GARD:2498 Familial glucocorticoid deficiency -GARD:6589 Familial hemophagocytic lymphohistiocytosis -GARD:20630 Familial hyperaldosteronism -GARD:2790 Familial hyperaldosteronism type I -GARD:2789 Familial hyperaldosteronism type II -GARD:12362 Familial hyperaldosteronism type III -GARD:17173 Familial hypercholanemia -GARD:22466 Familial hyperinflammatory lymphoproliferative immunodeficiency -GARD:21053 Familial hyperinsulinism -GARD:10879 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome -GARD:17634 Familial hyperprolactinemia -GARD:2858 Familial hyperthyroidism due to mutations in TSH receptor -GARD:16532 Familial hypoaldosteronism -GARD:10828 Familial hypocalciuric hypercalcemia -GARD:2796 Familial hypocalciuric hypercalcemia type 1 -GARD:9758 Familial hypocalciuric hypercalcemia type 2 -GARD:2878 Familial hypocalciuric hypercalcemia type 3 -GARD:17202 Familial hypodysfibrinogenemia -GARD:2887 Familial hypofibrinogenemia -GARD:18735 Familial idiopathic dilatation of the right atrium -GARD:17141 Familial infantile bilateral striatal necrosis -GARD:17521 Familial infantile myoclonic epilepsy -GARD:22067 Familial intestinal malrotation -GARD:21119 Familial intrahepatic cholestasis -GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia -GARD:17346 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form -GARD:17345 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form -GARD:17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form -GARD:21202 Familial isolated clinodactyly of fingers -GARD:16944 Familial isolated congenital asplenia -GARD:2905 Familial isolated dilated cardiomyopathy -GARD:16923 Familial isolated hyperparathyroidism -GARD:2910 Familial isolated hypoparathyroidism -GARD:16589 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland -GARD:17088 Familial isolated hypoparathyroidism due to impaired PTH secretion -GARD:10959 Familial isolated pituitary adenoma -GARD:16692 Familial isolated restrictive cardiomyopathy -GARD:13167 Familial isolated trichomegaly -GARD:9450 Familial juvenile hypertrophy of the breast -GARD:18693 Familial keratoacanthoma -GARD:10244 Familial lipase maturation factor 1 deficiency -GARD:12241 Familial lipoprotein lipase deficiency -GARD:16547 Familial long QT syndrome -GARD:4475 Familial male-limited precocious puberty -GARD:17663 Familial median cleft of the upper and lower lips -GARD:15069 Familial mediterranean fever, autosomal dominant -GARD:16901 Familial medullary thyroid carcinoma -GARD:3460 Familial melanoma -GARD:17011 Familial mesial temporal lobe epilepsy with febrile seizures -GARD:3687 Familial mitral valve prolapse -GARD:3765 Familial monosomy 7 syndrome -GARD:17278 Familial multinodular goiter -GARD:8479 Familial multiple discoid fibromas -GARD:12925 Familial multiple lipomatosis -GARD:17260 Familial multiple meningioma -GARD:3986 Familial multiple nevi flammei -GARD:10867 Familial multiple trichoepithelioma -GARD:2254 Familial nasal acilia -GARD:21421 Familial nonmedullary thyroid carcinoma -GARD:10878 Familial normophosphatemic tumoral calcinosis -GARD:21086 Familial omphalocele syndrome with facial dysmorphism -GARD:10768 Familial or sporadic hemiplegic migraine -GARD:17713 Familial ossifying fibroma -GARD:4133 Familial osteochondritis dissecans -GARD:4136 Familial osteodysplasia, Anderson type -GARD:20467 Familial ovarian cancer -GARD:4206 Familial pancreatic carcinoma -GARD:8488 Familial papillary or follicular thyroid carcinoma -GARD:16853 Familial papillary thyroid carcinoma with renal papillary neoplasia -GARD:9602 Familial paroxysmal ataxia -GARD:2173 Familial partial epilepsy -GARD:11962 Familial partial lipodystrophy -GARD:3126 Familial partial lipodystrophy, Dunnigan type -GARD:12598 Familial partial lipodystrophy, Köbberling type -GARD:17828 Familial patent arterial duct -GARD:10352 Familial platelet disorder with associated myeloid malignancy -GARD:2258 Familial porencephaly -GARD:17750 Familial porphyria cutanea tarda -GARD:2837 Familial primary hyperparathyroidism -GARD:17533 Familial primary localized cutaneous amyloidosis -GARD:10005 Familial progressive cardiac conduction defect -GARD:17298 Familial progressive hyper- and hypopigmentation -GARD:16706 Familial progressive hyperpigmentation -GARD:17888 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome -GARD:4520 Familial prostate cancer -GARD:16785 Familial pseudohyperkalemia -GARD:4569 Familial pterygium of the conjunctiva -GARD:13331 Familial reactive perforating collagenosis -GARD:16609 Familial recurrent peripheral facial palsy -GARD:7548 Familial renal glucosuria -GARD:20532 Familial restrictive cardiomyopathy -GARD:12779 Familial retinal arterial macroaneurysm -GARD:17159 Familial rhabdoid tumor -GARD:20113 Familial scaphocephaly syndrome -GARD:3426 Familial scaphocephaly syndrome, McGillivray type -GARD:17876 Familial schizencephaly -GARD:16650 Familial short QT syndrome -GARD:13663 Familial sick sinus syndrome -GARD:4997 Familial spontaneous pneumothorax -GARD:13818 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency -GARD:17295 Familial steroid-resistant nephrotic syndrome with sensorineural deafness -GARD:2259 Familial supernumerary nipples -GARD:21589 Familial syringomyelia -GARD:5135 Familial temporal lobe epilepsy -GARD:2249 Familial thoracic aortic aneurysm and aortic dissection -GARD:16688 Familial thrombocytosis -GARD:5195 Familial thrombomodulin anomalies -GARD:5204 Familial thyroglossal duct cyst -GARD:16843 Familial thyroid dyshormonogenesis -GARD:10877 Familial tumoral calcinosis -GARD:17323 Familial vesicoureteral reflux -GARD:3443 Familial visceral myopathy -GARD:6425 Fanconi anemia -GARD:15170 Fanconi anemia, complementation group a -GARD:15257 Fanconi anemia, complementation group b -GARD:15168 Fanconi anemia, complementation group c -GARD:15169 Fanconi anemia, complementation group d2 -GARD:15324 Fanconi anemia, complementation group e -GARD:15355 Fanconi anemia, complementation group f -GARD:15753 Fanconi anemia, complementation group g -GARD:15448 Fanconi anemia, complementation group i -GARD:15449 Fanconi anemia, complementation group j -GARD:15754 Fanconi anemia, complementation group l -GARD:15500 Fanconi anemia, complementation group n -GARD:15656 Fanconi anemia, complementation group o -GARD:15731 Fanconi anemia, complementation group p -GARD:15934 Fanconi anemia, complementation group q -GARD:16214 Fanconi anemia, complementation group r -GARD:16264 Fanconi anemia, complementation group s -GARD:16111 Fanconi anemia, complementation group t -GARD:16215 Fanconi anemia, complementation group u -GARD:16213 Fanconi anemia, complementation group v -GARD:15655 Fanconi renotubular syndrome 2 -GARD:15991 Fanconi renotubular syndrome 3 -GARD:16048 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young -GARD:16392 Fanconi renotubular syndrome 5 -GARD:2268 Fanconi-Bickel syndrome -GARD:6426 Farber disease -GARD:6427 Farmer's lung disease -GARD:15171 Fascial dystrophy, congenital -GARD:10728 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease -GARD:6429 Fatal familial insomnia -GARD:16569 Fatal infantile cytochrome C oxidase deficiency -GARD:17296 Fatal infantile hypertonic myofibrillar myopathy -GARD:3163 Fatal infantile lactic acidosis with methylmalonic aciduria -GARD:17035 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 -GARD:21620 Fatal post-viral neurodegenerative disorder -GARD:10810 Fatty acid hydroxylase-associated neurodegeneration -GARD:20528 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy -GARD:20522 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy -GARD:13319 Fatty acyl-CoA reductase 1 deficiency -GARD:11005 Febrile infection-related epilepsy syndrome -GARD:18283 Febrile seizures, familial, 11 -GARD:18058 Febrile seizures, familial, 8 -GARD:8407 Feingold syndrome -GARD:17624 Feingold syndrome type 1 -GARD:17625 Feingold syndrome type 2 -GARD:8234 Felty syndrome -GARD:21694 Female infertility due to an implantation defect of genetic origin -GARD:17887 Female infertility due to oocyte meiotic arrest -GARD:17675 Female infertility due to zona pellucida defect -GARD:10806 Female restricted epilepsy with intellectual disability -GARD:1503 Femoral agenesis/hypoplasia -GARD:61 Femoral-facial syndrome -GARD:2286 Femur-fibula-ulna complex -GARD:21637 Ferro-cerebro-cutaneous syndrome -GARD:10675 Fetal Gaucher disease -GARD:9634 Fetal akinesia deformation sequence -GARD:16495 Fetal akinesia deformation sequence 2 -GARD:16496 Fetal akinesia deformation sequence 3 -GARD:16497 Fetal akinesia deformation sequence 4 -GARD:2293 Fetal akinesia syndrome, x-linked -GARD:17553 Fetal akinesia-cerebral and retinal hemorrhage syndrome -GARD:599 Fetal alcohol syndrome -GARD:2295 Fetal and neonatal alloimmune thrombocytopenia -GARD:21594 Fetal anticonvulsant syndrome -GARD:21595 Fetal carbamazepine syndrome -GARD:1480 Fetal cytomegalovirus syndrome -GARD:17823 Fetal encasement syndrome -GARD:18656 Fetal hemoglobin quantitative trait locus 1 -GARD:18657 Fetal hemoglobin quantitative trait locus 2 -GARD:18658 Fetal hemoglobin quantitative trait locus 3 -GARD:6435 Fetal hydantoin syndrome -GARD:2304 Fetal iodine syndrome -GARD:21804 Fetal lower urinary tract obstruction -GARD:21118 Fetal lung interstitial tumor -GARD:3575 Fetal methylmercury syndrome -GARD:2308 Fetal minoxidil syndrome -GARD:4236 Fetal parvovirus syndrome -GARD:18750 Fetal trimethadione syndrome -GARD:5447 Fetal valproate spectrum disorder -GARD:17820 Fever-associated acute infantile liver failure syndrome -GARD:20708 Fibrillary astrocytoma -GARD:21958 Fibroblastic rheumatism -GARD:2321 Fibrochondrogenesis -GARD:15815 Fibrochondrogenesis 2 -GARD:6445 Fibrodysplasia ossificans progressiva -GARD:22239 Fibrohistiocytic inflammatory pseudotumor of the liver -GARD:21704 Fibrolamellar hepatocellular carcinoma -GARD:6509 Fibromatosis, gingival, 1 -GARD:2474 Fibromatosis, gingival, 2 -GARD:9911 Fibromatosis, gingival, 3 -GARD:2475 Fibromatosis, gingival, 4 -GARD:18357 Fibromatosis, gingival, 5 -GARD:15019 Fibronectin glomerulopathy -GARD:2327 Fibrosarcoma -GARD:5697 Fibrosclerosis, multifocal -GARD:15341 Fibrosis of extraocular muscles, congenital, 2 -GARD:15321 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement -GARD:15459 Fibrosis of extraocular muscles, congenital, 3c -GARD:18164 Fibrosis of extraocular muscles, congenital, 5 -GARD:15466 Fibrosis of extraocular muscles, congenital, with synergistic divergence -GARD:22487 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome -GARD:6444 Fibrous dysplasia of bone -GARD:22384 Fibrous dysplasia/McCune-Albright syndrome -GARD:9879 Fibular aplasia-complex brachydactyly syndrome -GARD:2331 Fibular aplasia-ectrodactyly syndrome -GARD:18746 Fibular dimelia-diplopodia syndrome -GARD:8659 Fibular hemimelia -GARD:320 Fibulo-ulnar hypoplasia-renal anomalies syndrome -GARD:19190 Filamin-related bone disorder -GARD:18757 Filariasis -GARD:62 Filippi syndrome -GARD:21584 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome -GARD:12720 Fingerprint body myopathy -GARD:17652 Finnish upper limb-onset distal myopathy -GARD:19934 First branchial cleft anomaly -GARD:6450 Fish-eye disease -GARD:21170 Fixed drug eruption -GARD:16619 Fixed subaortic stenosis -GARD:4873 Flat face-microstomia-ear anomaly syndrome -GARD:16879 Fleck corneal dystrophy -GARD:6455 Floating-Harbor syndrome -GARD:10173 Florid cemento-osseous dysplasia -GARD:2347 Flynn-Aird syndrome -GARD:21299 Focal acral hyperkeratosis -GARD:6457 Focal dermal hypoplasia -GARD:21522 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation -GARD:8416 Focal facial dermal dysplasia -GARD:16524 Focal facial dermal dysplasia type I -GARD:17649 Focal facial dermal dysplasia type II -GARD:121 Focal facial dermal dysplasia type III -GARD:17650 Focal facial dermal dysplasia type IV -GARD:18837 Focal myositis -GARD:3098 Focal palmoplantar and gingival keratoderma -GARD:21294 Focal palmoplantar keratoderma -GARD:17596 Focal palmoplantar keratoderma with joint keratoses -GARD:15353 Focal segmental glomerulosclerosis 1 -GARD:15362 Focal segmental glomerulosclerosis 2 -GARD:15422 Focal segmental glomerulosclerosis 3, susceptibility to -GARD:15564 Focal segmental glomerulosclerosis 4, susceptibility to -GARD:15636 Focal segmental glomerulosclerosis 5 -GARD:15761 Focal segmental glomerulosclerosis 6 -GARD:16045 Focal segmental glomerulosclerosis 7 -GARD:16051 Focal segmental glomerulosclerosis 8 -GARD:16070 Focal segmental glomerulosclerosis 9 -GARD:17756 Focal stiff limb syndrome -GARD:18749 Focal, segmental or multifocal dystonia -GARD:4163 Foix-Alajouanine syndrome -GARD:2351 Foix-Chavany-Marie syndrome -GARD:18938 Folinic acid-responsive seizures -GARD:21236 Follicular cholangitis and pancreatitis -GARD:19081 Follicular dendritic cell sarcoma -GARD:2356 Follicular lymphoma -GARD:15608 Follicular lymphoma, susceptibility to, 1 -GARD:20154 Folliculotropic mycosis fungoides -GARD:20591 Foodborne botulism -GARD:9279 Formiminoglutamic aciduria -GARD:64 Fountain syndrome -GARD:19936 Fourth branchial cleft anomaly -GARD:17632 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome -GARD:406 Foveal hypoplasia-presenile cataract syndrome -GARD:2365 Fowler urethral sphincter dysfunction syndrome -GARD:17138 Fowler vasculopaty -GARD:6464 Fragile X syndrome -GARD:16806 Fragile X-associated tremor/ataxia syndrome -GARD:5138 Frank-Ter Haar syndrome -GARD:6465 Fraser syndrome -GARD:2375 Frasier syndrome -GARD:10870 Free sialic acid storage disease -GARD:175 Free sialic acid storage disease, infantile form -GARD:6466 Freeman-Sheldon syndrome -GARD:16753 Fried syndrome -GARD:16903 Fried's tooth and nail syndrome -GARD:6468 Friedreich ataxia -GARD:15340 Friedreich ataxia 2 -GARD:18753 Frontal encephalocele -GARD:10886 Frontal fibrosing alopecia -GARD:2390 Frontofacionasal dysplasia -GARD:826 Frontometaphyseal dysplasia -GARD:15293 Frontometaphyseal dysplasia 1 -GARD:16199 Frontometaphyseal dysplasia 2 -GARD:19955 Frontonasal arteriovenous malformation -GARD:2392 Frontonasal dysplasia -GARD:12641 Frontonasal dysplasia-alopecia-genital anomalies syndrome -GARD:22142 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome -GARD:12640 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome -GARD:12642 Frontorhiny -GARD:19485 Frontotemporal degeneration with dementia -GARD:8436 Frontotemporal dementia -GARD:18396 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 -GARD:18397 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 -GARD:16113 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 -GARD:18398 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 -GARD:16427 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 -GARD:15733 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 -GARD:15322 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 -GARD:18395 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 -GARD:17273 Frontotemporal dementia with motor neuron disease -GARD:21268 Frontotemporal neurodegeneration with movement disorder -GARD:2400 Fructose-1,6-bisphosphatase deficiency -GARD:3699 Fryns syndrome -GARD:2409 Fryns-Smeets-Thiry syndrome -GARD:10018 Fuchs endothelial corneal dystrophy -GARD:6791 Fuchs heterochromic iridocyclitis -GARD:6473 Fucosidosis -GARD:2410 Fuhrmann syndrome -GARD:12538 Fukutin-related limb-girdle muscular dystrophy R13 -GARD:18812 Fulminant viral hepatitis -GARD:6476 Fumaric aciduria -GARD:20321 Functional neutrophil defect -GARD:20613 Functional variant of Guillain-Barré syndrome -GARD:19158 Functioning gonadotropic adenoma -GARD:22053 Functioning neuroendocrine tumor of pancreas -GARD:21389 Functioning pituitary adenoma -GARD:13809 Fundus albipunctatus -GARD:9633 Fundus dystrophy, pseudoinflammatory, recessive form -GARD:19613 Fundus pulverulentus -GARD:22134 Fungal keratitis -GARD:20380 Fungal myositis -GARD:2418 Furuncular myiasis -GARD:22260 Furuncular myiasis due to Cordylobia anthropophaga -GARD:22261 Furuncular myiasis due to Cordylobia rodhaini -GARD:22259 Furuncular myiasis due to Dermatobia hominis -GARD:20570 Fusariosis -GARD:2419 Fused mandibular incisors -GARD:400 GAPO syndrome -GARD:10460 GCGR-related hyperglucagonemia -GARD:22299 GJC2-related late-onset primary lymphedema -GARD:10891 GM1 gangliosidosis -GARD:6479 GM1 gangliosidosis type 1 -GARD:10126 GM1 gangliosidosis type 2 -GARD:2431 GM1 gangliosidosis type 3 -GARD:21323 GM2 gangliosidosis -GARD:17406 GM2 gangliosidosis, AB variant -GARD:12059 GM3 synthase deficiency -GARD:12544 GMPPB-related limb-girdle muscular dystrophy R19 -GARD:2523 GMS syndrome -GARD:22369 GNAO1-related developmental delay-seizures-movement disorder spectrum -GARD:17982 GNB5-related intellectual disability-cardiac arrhythmia syndrome -GARD:9493 GNE myopathy -GARD:1 GRACILE syndrome -GARD:19356 GRFoma -GARD:22356 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder -GARD:2844 GTP cyclohydrolase I deficiency -GARD:17947 Gabriele-de Vries syndrome -GARD:19104 Gaisböck syndrome -GARD:2422 Galactokinase deficiency -GARD:5392 Galactose epimerase deficiency -GARD:18005 Galactose mutarotase deficiency -GARD:2424 Galactosemia -GARD:3953 Galactosialidosis -GARD:19761 Gallbladder neuroendocrine tumor -GARD:65 Galloway-Mowat syndrome -GARD:15199 Galloway-mowat syndrome 1 -GARD:15281 Galloway-mowat syndrome 2, x-linked -GARD:16247 Galloway-mowat syndrome 3 -GARD:16248 Galloway-mowat syndrome 4 -GARD:16249 Galloway-mowat syndrome 5 -GARD:16343 Galloway-mowat syndrome 6 -GARD:16344 Galloway-mowat syndrome 7 -GARD:16345 Galloway-mowat syndrome 8 -GARD:194 Gamma-aminobutyric acid transaminase deficiency -GARD:10099 Gamma-glutamyl transpeptidase deficiency -GARD:10346 Gamma-heavy chain disease -GARD:2429 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 -GARD:10638 Gangliocytoma -GARD:2430 Ganglioglioma -GARD:20719 Ganglioneuroblastoma -GARD:20731 Ganglioneuroma -GARD:12510 Gangliosidosis -GARD:6482 Gardner syndrome -GARD:17416 Gastric adenocarcinoma and proximal polyposis of the stomach -GARD:18822 Gastric linitis plastica -GARD:2438 Gastrocutaneous syndrome -GARD:19383 Gastroduodenal malformation -GARD:21985 Gastroenteric neuroendocrine neoplasm -GARD:2437 Gastroenteropancreatic neuroendocrine neoplasm -GARD:8598 Gastrointestinal stromal tumor -GARD:8661 Gastroschisis -GARD:8233 Gaucher disease -GARD:2441 Gaucher disease type 1 -GARD:2442 Gaucher disease type 2 -GARD:2443 Gaucher disease type 3 -GARD:12504 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome -GARD:16234 Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development -GARD:9647 Gelatinous drop-like corneal dystrophy -GARD:2449 Geleophysic dysplasia -GARD:15172 Geleophysic dysplasia 1 -GARD:15768 Geleophysic dysplasia 2 -GARD:16255 Geleophysic dysplasia 3 -GARD:2451 Gemignani syndrome -GARD:20709 Gemistocytic astrocytoma -GARD:8380 Generalized arterial calcification of infancy -GARD:17042 Generalized basaloid follicular hamartoma syndrome -GARD:20368 Generalized bulbospinal muscular atrophy -GARD:18659 Generalized epilepsy with febrile seizures plus, type 1 -GARD:18671 Generalized epilepsy with febrile seizures plus, type 10 -GARD:18661 Generalized epilepsy with febrile seizures plus, type 2 -GARD:18662 Generalized epilepsy with febrile seizures plus, type 4 -GARD:18663 Generalized epilepsy with febrile seizures plus, type 6 -GARD:18665 Generalized epilepsy with febrile seizures plus, type 7 -GARD:18664 Generalized epilepsy with febrile seizures plus, type 8 -GARD:18668 Generalized epilepsy with febrile seizures plus, type 9 -GARD:18641 Generalized epilepsy with febrile seizures-plus -GARD:16704 Generalized epilepsy-paroxysmal dyskinesia syndrome -GARD:20018 Generalized eruptive histiocytosis -GARD:21736 Generalized eruptive keratoacanthoma -GARD:21087 Generalized essential telangiectasia -GARD:17393 Generalized galactose epimerase deficiency -GARD:2499 Generalized glucocorticoid resistance syndrome -GARD:21618 Generalized isolated dystonia -GARD:17508 Generalized juvenile polyposis/juvenile polyposis coli -GARD:12862 Generalized peeling skin syndrome -GARD:4552 Generalized pseudohypoaldosteronism type 1 -GARD:12819 Generalized pustular psoriasis -GARD:21482 Genetic 46,XX disorder of sex development -GARD:21483 Genetic 46,XY disorder of sex development -GARD:21484 Genetic 46,XY disorder of sex development of endocrine origin -GARD:20263 Genetic acrokeratoderma -GARD:21987 Genetic alopecia -GARD:22488 Genetic autoinflammatory syndrome with skin involvement -GARD:20006 Genetic biliary tract disease -GARD:20289 Genetic bone tumor -GARD:20301 Genetic branchial arch or oral-acral syndrome -GARD:21016 Genetic cardiac anomaly -GARD:21969 Genetic cardiac malformation -GARD:19785 Genetic cardiac rhythm disease -GARD:21013 Genetic cardiac tumor -GARD:20281 Genetic central nervous system and retinal vascular disease -GARD:20282 Genetic central nervous system malformation -GARD:21006 Genetic cerebellar malformation -GARD:21004 Genetic cerebral malformation -GARD:21960 Genetic cerebral small vessel disease -GARD:19804 Genetic chronic primary adrenal insufficiency -GARD:21922 Genetic complex vascular malformation with associated anomalies -GARD:20292 Genetic congenital limb malformation -GARD:22189 Genetic congenital malformation of the eye with glaucoma as a major feature -GARD:22176 Genetic corneal dystrophy -GARD:20294 Genetic cranial malformation -GARD:19228 Genetic cystic renal disease -GARD:20028 Genetic dementia -GARD:20272 Genetic dermis disorder -GARD:20574 Genetic dermis elastic tissue disorder -GARD:20298 Genetic developmental defect of the eye -GARD:20295 Genetic digestive tract malformation -GARD:21012 Genetic digestive tract tumor -GARD:21481 Genetic disorder of sex development -GARD:21480 Genetic disorder of sex development of gynecological interest -GARD:20012 Genetic endocrine growth disease -GARD:20265 Genetic epidermal appendage anomaly -GARD:20260 Genetic epidermal disorder -GARD:20262 Genetic erythrokeratoderma -GARD:20310 Genetic eye tumor -GARD:21740 Genetic facial cleft -GARD:21040 Genetic frontotemporal degeneration with dementia -GARD:20061 Genetic gastro-esophageal disease -GARD:20304 Genetic glomerular disease -GARD:20324 Genetic gynecological tumor -GARD:20266 Genetic hair anomaly -GARD:20303 Genetic head and neck malformation -GARD:21934 Genetic hemoglobinopathy -GARD:22330 Genetic hemolytic uremic syndrome -GARD:21617 Genetic hyperaldosteronism -GARD:20751 Genetic hyperferritinemia without iron overload -GARD:20408 Genetic hyperparathyroidism -GARD:20270 Genetic hyperpigmentation of the skin -GARD:20407 Genetic hypoparathyroidism -GARD:20271 Genetic hypopigmentation of the skin -GARD:20278 Genetic immune deficiency with skin involvement -GARD:21021 Genetic infertility -GARD:22020 Genetic inflammatory or rheumatoid-like osteoarthropathy -GARD:20944 Genetic interstitial lung disease -GARD:20060 Genetic intestinal disease -GARD:21547 Genetic intestinal disease due to fat malabsorption -GARD:21548 Genetic intestinal polyposis -GARD:21546 Genetic intractable diarrhea of infancy -GARD:21811 Genetic larynx anomaly -GARD:20308 Genetic lens and zonula anomaly -GARD:21947 Genetic lethal multiple congenital anomalies/dysmorphic syndrome -GARD:12597 Genetic lipodystrophy -GARD:20302 Genetic malformation syndrome with odontal and/or periodontal component -GARD:20299 Genetic malformation syndrome with short stature -GARD:20274 Genetic mixed dermis disorder -GARD:19478 Genetic motor neuron disease -GARD:20291 Genetic multiple congenital anomalies/dysmorphic syndrome -GARD:21507 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -GARD:22441 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -GARD:20267 Genetic nail anomaly -GARD:22265 Genetic nephrotic syndrome -GARD:20309 Genetic neuro-ophthalmological disease -GARD:20280 Genetic neurodegenerative disease -GARD:21039 Genetic neurodegenerative disease with dementia -GARD:21015 Genetic neuroendocrine tumor -GARD:19568 Genetic neurological channelopathy of the central nervous system -GARD:19562 Genetic neurological muscular channelopathy -GARD:20279 Genetic neuromuscular disease -GARD:19475 Genetic neuromuscular junction disease -GARD:21614 Genetic neurovascular malformation -GARD:21992 Genetic non-acquired premature ovarian failure -GARD:21003 Genetic non-syndromic central nervous system malformation -GARD:19439 Genetic non-syndromic obesity -GARD:21540 Genetic non-syndromic renal or urinary tract malformation -GARD:21810 Genetic nose and cavum anomaly -GARD:18935 Genetic obesity -GARD:21935 Genetic otorhinolaryngologic disease -GARD:21809 Genetic otorhinolaryngological malformation -GARD:20300 Genetic overgrowth/obesity syndrome -GARD:20062 Genetic pancreatic disease -GARD:20005 Genetic parenchymatous liver disease -GARD:21613 Genetic periodic paralysis -GARD:10711 Genetic peripheral neuropathy -GARD:20277 Genetic photodermatosis -GARD:20269 Genetic pigmentation anomaly of the skin -GARD:20682 Genetic polycythemia -GARD:20317 Genetic polyendocrinopathy -GARD:20264 Genetic porokeratosis -GARD:21005 Genetic posterior fossa malformation -GARD:21806 Genetic precocious puberty -GARD:21808 Genetic precocious puberty in female -GARD:22140 Genetic primary orthostatic disorder -GARD:21878 Genetic primary orthostatic hypotension -GARD:21543 Genetic progeroid syndrome -GARD:16916 Genetic recurrent myoglobinuria -GARD:20293 Genetic renal or urinary tract malformation -GARD:20306 Genetic renal tubular disease -GARD:20307 Genetic renal tumor -GARD:20311 Genetic respiratory malformation -GARD:20297 Genetic respiratory or mediastinal malformation -GARD:20268 Genetic sebaceous gland anomaly -GARD:20358 Genetic skeletal muscle disease -GARD:20276 Genetic skin tumor or hamartoma -GARD:20273 Genetic skin vascular disorder -GARD:21011 Genetic soft tissue tumor -GARD:3946 Genetic steroid-resistant nephrotic syndrome -GARD:20275 Genetic subcutaneous tissue disorder -GARD:22177 Genetic superficial corneal dystrophy -GARD:20322 Genetic susceptibility to infections due to particular pathogens -GARD:21009 Genetic syndrome with a Dandy-Walker malformation as a major feature -GARD:21007 Genetic syndrome with a central nervous system malformation as a major feature -GARD:21008 Genetic syndrome with a cerebellar malformation as a major feature -GARD:21010 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -GARD:21728 Genetic syndrome with limb malformations as a major feature -GARD:21727 Genetic syndrome with limb reduction defects -GARD:21545 Genetic syndromic Pierre Robin syndrome -GARD:21616 Genetic syndromic esophageal malformation -GARD:22290 Genetic systemic disease with glomerulopathy as a major feature -GARD:20305 Genetic thrombotic microangiopathy -GARD:21812 Genetic tracheal anomaly -GARD:20564 Genetic transient congenital hypothyroidism -GARD:21434 Genetic tumor of hematopoietic and lymphoid tissues -GARD:20009 Genetic urogenital tract malformation -GARD:21014 Genetic urogenital tumor -GARD:20258 Genetic urticaria -GARD:20459 Genetic vascular anomaly -GARD:20296 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen -GARD:2460 Genitopalatocardiac syndrome -GARD:10994 Genitopatellar syndrome -GARD:16741 Genochondromatosis type 1 -GARD:16820 Genochondromatosis type 2 -GARD:18797 Germ cell tumor -GARD:13047 Germ cell tumor of testis -GARD:2462 German syndrome -GARD:19162 Germinoma of the central nervous system -GARD:413 Geroderma osteodysplastica -GARD:8660 Gerstmann syndrome -GARD:7690 Gerstmann-Straussler-Scheinker syndrome -GARD:19712 Gestational choriocarcinoma -GARD:20748 Gestational trophoblastic disease -GARD:6498 Gestational trophoblastic neoplasm -GARD:10297 Ghosal hematodiaphyseal dysplasia -GARD:20206 Giant adenofibroma of the breast -GARD:6500 Giant axonal neuropathy -GARD:9615 Giant cell arteritis -GARD:20705 Giant cell glioblastoma -GARD:13046 Giant cell tumor of bone -GARD:15223 Gillessen-kaesbach-nishimura syndrome -GARD:10528 Gingival fibromatosis-facial dysmorphism syndrome -GARD:2324 Gingival fibromatosis-hypertrichosis syndrome -GARD:3056 Gingival fibromatosis-progressive deafness syndrome -GARD:15106 Gist-plus syndrome -GARD:8547 Gitelman syndrome -GARD:22486 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation -GARD:2478 Glanzmann thrombasthenia -GARD:15240 Glanzmann thrombasthenia 1 -GARD:16439 Glanzmann thrombasthenia 2 -GARD:20500 Glassy cell carcinoma of the cervix uteri -GARD:9485 Glaucoma 1, open angle, a -GARD:18228 Glaucoma 1, open angle, j -GARD:18229 Glaucoma 1, open angle, k -GARD:18230 Glaucoma 1, open angle, m -GARD:18231 Glaucoma 1, open angle, n -GARD:18224 Glaucoma 3, primary congenital, a -GARD:18225 Glaucoma 3, primary congenital, c -GARD:18226 Glaucoma 3, primary congenital, d -GARD:18227 Glaucoma 3, primary congenital, e -GARD:2490 Glaucoma 3, primary infantile, b -GARD:10942 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea -GARD:2452 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome -GARD:2483 Glaucoma-sleep apnea syndrome -GARD:6513 Glial tumor -GARD:20713 Glial tumor of neuroepithelial tissue with unknown origin -GARD:2491 Glioblastoma -GARD:20989 Glioependymal/ependymal cyst -GARD:6514 Gliomatosis cerebri -GARD:5653 Gliosarcoma -GARD:20997 Global cerebellar malformation -GARD:16477 Global developmental delay with or without impaired intellectual development -GARD:18541 Global developmental delay with speech and behavioral abnormalities -GARD:17987 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome -GARD:17676 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome -GARD:17893 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome -GARD:18919 Global developmental delay-osteopenia-ectodermal defect syndrome -GARD:17871 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome -GARD:12736 Glomerular disease -GARD:9268 Glomerulopathy with fibronectin deposits 1 -GARD:9914 Glomerulopathy with fibronectin deposits 2 -GARD:21626 Glomus tumor -GARD:16728 Glomuvenous malformation -GARD:19954 Glossopalatine ankylosis -GARD:6519 Glossopharyngeal neuralgia -GARD:2496 Glucagonoma -GARD:15412 Glucocorticoid deficiency 2 -GARD:15450 Glucocorticoid deficiency 3 -GARD:15840 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency -GARD:16257 Glucocorticoid deficiency 5 -GARD:18956 Gluconeogenesis disorder -GARD:18957 Glucose transport disorder -GARD:6521 Glucose-galactose malabsorption -GARD:16631 Glutamate-cysteine ligase deficiency -GARD:12469 Glutaric acidemia type 3 -GARD:6522 Glutaryl-CoA dehydrogenase deficiency -GARD:10047 Glutathione synthetase deficiency -GARD:17330 Glutathione synthetase deficiency with 5-oxoprolinuria -GARD:17331 Glutathione synthetase deficiency without 5-oxoprolinuria -GARD:21311 Glycerol kinase deficiency -GARD:17317 Glycerol kinase deficiency, adult form -GARD:17316 Glycerol kinase deficiency, juvenile form -GARD:7219 Glycine encephalopathy -GARD:18973 Glycogen storage disease -GARD:9730 Glycogen storage disease due to LAMP-2 deficiency -GARD:5714 Glycogen storage disease due to acid maltase deficiency -GARD:21310 Glycogen storage disease due to acid maltase deficiency, infantile onset -GARD:21746 Glycogen storage disease due to acid maltase deficiency, late-onset -GARD:600 Glycogen storage disease due to aldolase A deficiency -GARD:16523 Glycogen storage disease due to glucose-6-phosphatase deficiency -GARD:7864 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia -GARD:2515 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib -GARD:2520 Glycogen storage disease due to glycogen branching enzyme deficiency -GARD:17400 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form -GARD:17398 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form -GARD:17399 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form -GARD:17397 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form -GARD:17396 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form -GARD:17395 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form -GARD:17394 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form -GARD:9442 Glycogen storage disease due to glycogen debranching enzyme deficiency -GARD:21309 Glycogen storage disease due to glycogen synthase deficiency -GARD:2513 Glycogen storage disease due to hepatic glycogen synthase deficiency -GARD:3161 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency -GARD:3160 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency -GARD:3159 Glycogen storage disease due to lactate dehydrogenase deficiency -GARD:16711 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency -GARD:6529 Glycogen storage disease due to liver glycogen phosphorylase deficiency -GARD:17261 Glycogen storage disease due to liver phosphorylase kinase deficiency -GARD:10760 Glycogen storage disease due to muscle and heart glycogen synthase deficiency -GARD:2125 Glycogen storage disease due to muscle beta-enolase deficiency -GARD:6528 Glycogen storage disease due to muscle glycogen phosphorylase deficiency -GARD:5686 Glycogen storage disease due to muscle phosphofructokinase deficiency -GARD:3858 Glycogen storage disease due to muscle phosphorylase kinase deficiency -GARD:7389 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency -GARD:9964 Glycogen storage disease due to phosphoglycerate mutase deficiency -GARD:18691 Glycogen storage disease due to phosphorylase kinase deficiency -GARD:15173 Glycogen storage disease ic -GARD:18386 Glycogen storage disease ixa1 -GARD:18387 Glycogen storage disease ixc -GARD:20519 Glycogen storage disease with hypertrophic cardiomyopathy -GARD:17254 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency -GARD:10670 Glycoproteinosis -GARD:18353 Glycosylphosphatidylinositol biosynthesis defect 11 -GARD:22577 Glycosylphosphatidylinositol biosynthesis defect 16 -GARD:8698 Gnathodiaphyseal dysplasia -GARD:10414 Goblet cell carcinoma -GARD:9849 Goldberg-Shprintzen megacolon syndrome -GARD:10781 Goldmann-Favre syndrome -GARD:2285 Gollop-Wolfgang complex -GARD:19408 Gonadal dysgenesis of gynecological interest -GARD:21554 Gonadal germ cell tumor -GARD:17100 Gonadoblastoma -GARD:2546 Gonococcal conjunctivitis -GARD:8622 Good syndrome -GARD:2549 Goodman syndrome -GARD:2553 Gordon syndrome -GARD:6542 Gorham-Stout disease -GARD:7166 Gorlin syndrome -GARD:66 Gorlin-Chaudhry-Moss syndrome -GARD:16642 Graft versus host disease -GARD:3195 Graham Little-Piccardi-Lassueur syndrome -GARD:16697 Grange syndrome -GARD:2559 Grant syndrome -GARD:9677 Granular corneal dystrophy type I -GARD:9278 Granular corneal dystrophy type II -GARD:22442 Granuloma faciale -GARD:7880 Granulomatosis with polyangiitis -GARD:21455 Granulomatous autoinflammatory syndrome -GARD:21460 Granulomatous autoinflammatory syndrome of childhood -GARD:15176 Granulomatous disease, chronic, autosomal recessive, 1 -GARD:15177 Granulomatous disease, chronic, autosomal recessive, 2 -GARD:15736 Granulomatous disease, chronic, autosomal recessive, 3 -GARD:15175 Granulomatous disease, chronic, autosomal recessive, 4 -GARD:16395 Granulomatous disease, chronic, autosomal recessive, 5 -GARD:15294 Granulomatous disease, chronic, x-linked -GARD:18863 Granulomatous mastitis -GARD:10986 Granulomatous slack skin -GARD:2562 Gray platelet syndrome -GARD:21167 Grayson-Wilbrandt corneal dystrophy -GARD:8754 Greenberg dysplasia -GARD:6550 Greig cephalopolysyndactyly syndrome -GARD:10913 Griscelli syndrome -GARD:2566 Griscelli syndrome type 1 -GARD:4483 Griscelli syndrome type 2 -GARD:9715 Griscelli syndrome type 3 -GARD:21380 Growing teratoma syndrome -GARD:17615 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome -GARD:10609 Growth delay due to insulin-like growth factor I resistance -GARD:10627 Growth delay due to insulin-like growth factor type 1 deficiency -GARD:2427 Growth delay-hydrocephaly-lung hypoplasia syndrome -GARD:17980 Growth delay-intellectual disability-hepatopathy syndrome -GARD:3924 Growth hormone insensitivity syndrome -GARD:18311 Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive -GARD:18312 Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant -GARD:21621 Growth retardation-mild developmental delay-chronic hepatitis syndrome -GARD:2576 Grubben-de Cock-Borghgraef syndrome -GARD:2578 Guanidinoacetate methyltransferase deficiency -GARD:6554 Guillain-Barré syndrome -GARD:18211 Guillain-barre syndrome, familial -GARD:4470 Guttmacher syndrome -GARD:9665 Gynandroblastoma -GARD:6556 Gyrate atrophy of choroid and retina -GARD:229 Gómez-López-Hernández syndrome -GARD:10239 H syndrome -GARD:10889 HANAC syndrome -GARD:2620 HEC syndrome -GARD:8528 HELLP syndrome -GARD:22310 HHV-8-associated multicentric Castleman disease -GARD:21857 HIV-associated cancer -GARD:10221 HNF1B-related autosomal dominant tubulointerstitial kidney disease -GARD:12531 HNRNPDL-related limb-girdle muscular dystrophy D3 -GARD:10716 HSD10 disease -GARD:16749 HSD10 disease, atypical type -GARD:17622 HSD10 disease, infantile type -GARD:17623 HSD10 disease, neonatal type -GARD:17877 HTRA1-related autosomal dominant cerebral small vessel disease -GARD:21988 HTRA1-related cerebral small vessel disease -GARD:16909 Haddad syndrome -GARD:44 Haim-Munk syndrome -GARD:18994 Hair anomaly -GARD:21249 Hairy cell leukemia variant -GARD:508 Hajdu-Cheney syndrome -GARD:2586 Hall-Riggs syndrome -GARD:288 Hallermann-Streiff syndrome -GARD:290 Hallermann-Streiff-like syndrome -GARD:3118 Hallux varus-preaxial polysyndactyly syndrome -GARD:19240 Hamel cerebro-palato-cardiac syndrome -GARD:2594 Hand-foot-genital syndrome -GARD:69 Hantavirus pulmonary syndrome -GARD:6568 Harlequin ichthyosis -GARD:8610 Harlequin syndrome -GARD:2601 Harrod syndrome -GARD:6569 Hartnup disease -GARD:2725 Hartsfield syndrome -GARD:5668 Hawkinsinuria -GARD:16992 Hb Bart's hydrops fetalis -GARD:18788 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome -GARD:4166 Heart defect-tongue hamartoma-polysyndactyly syndrome -GARD:2613 Heart defects-limb shortening syndrome -GARD:19550 Heart position anomaly -GARD:20573 Heart-hand syndrome -GARD:9847 Heart-hand syndrome type 2 -GARD:2614 Heart-hand syndrome type 3 -GARD:9846 Heart-hand syndrome, Slovenian type -GARD:19222 Heavy chain deposition disease -GARD:19074 Heavy chain disease -GARD:16144 Heimler syndrome 2 -GARD:19714 Heiner syndrome -GARD:16757 Helicoid peripapillary chorioretinal degeneration -GARD:8232 Hemangioblastoma -GARD:2627 Hemangiopericytoma, malignant -GARD:20419 Hematological disease associated with an acquired peripheral neuropathy -GARD:19231 Hematological disorder with renal involvement -GARD:17995 Heme oxygenase-1 deficiency -GARD:10795 Hemicrania continua -GARD:21273 Hemidystonia-hemiatrophy syndrome -GARD:16971 Hemifacial hyperplasia -GARD:10084 Hemifacial myohyperplasia -GARD:17137 Hemifacial spasm -GARD:21051 Hemihyperplasia-multiple lipomatosis syndrome -GARD:2637 Hemimegalencephaly -GARD:18761 Hemimelia -GARD:21262 Hemiparkinsonism-hemiatrophy syndrome -GARD:10092 Hemochromatosis type 2 -GARD:10093 Hemochromatosis type 3 -GARD:10094 Hemochromatosis type 4 -GARD:15647 Hemochromatosis, type 2b -GARD:2640 Hemoglobin C disease -GARD:20608 Hemoglobin C-beta-thalassemia syndrome -GARD:19103 Hemoglobin D disease -GARD:2641 Hemoglobin E disease -GARD:20609 Hemoglobin E-beta-thalassemia syndrome -GARD:16829 Hemoglobin H disease -GARD:21505 Hemoglobin Lepore-beta-thalassemia syndrome -GARD:13007 Hemoglobin M disease -GARD:18883 Hemoglobinopathy -GARD:17297 Hemoglobinopathy Toms River -GARD:19460 Hemolytic anemia due to a disorder of glycolytic enzymes -GARD:16760 Hemolytic anemia due to adenylate kinase deficiency -GARD:19461 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder -GARD:1874 Hemolytic anemia due to diphosphoglycerate mutase deficiency -GARD:19669 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction -GARD:16541 Hemolytic anemia due to glucophosphate isomerase deficiency -GARD:16784 Hemolytic anemia due to glutathione reductase deficiency -GARD:18089 Hemolytic anemia due to glutathione reductase deficiency -GARD:19459 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies -GARD:16635 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency -GARD:7514 Hemolytic anemia due to red cell pyruvate kinase deficiency -GARD:15179 Hemolytic anemia with thermal sensitivity of red cells -GARD:21037 Hemolytic disease due to fetomaternal alloimmunization -GARD:21038 Hemolytic disease of the newborn with Kell alloimmunization -GARD:22233 Hemolytic uremic syndrome -GARD:17543 Hemolytic uremic syndrome with DGKE deficiency -GARD:18550 Hemolytic uremic syndrome, atypical, susceptibility to, 1 -GARD:18552 Hemolytic uremic syndrome, atypical, susceptibility to, 2 -GARD:18553 Hemolytic uremic syndrome, atypical, susceptibility to, 3 -GARD:18554 Hemolytic uremic syndrome, atypical, susceptibility to, 4 -GARD:18555 Hemolytic uremic syndrome, atypical, susceptibility to, 5 -GARD:18556 Hemolytic uremic syndrome, atypical, susceptibility to, 6 -GARD:9922 Hemophagocytic lymphohistiocytosis, familial, 2 -GARD:9928 Hemophagocytic lymphohistiocytosis, familial, 3 -GARD:9929 Hemophagocytic lymphohistiocytosis, familial, 4 -GARD:15614 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease -GARD:20024 Hemophagocytic syndrome -GARD:7857 Hemophagocytic syndrome associated with an infection -GARD:10418 Hemophilia -GARD:6591 Hemophilia A -GARD:8732 Hemophilia B -GARD:22455 Hemophilia B Leyden -GARD:20148 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation -GARD:18689 Hemorrhagic fever-renal syndrome -GARD:15180 Hemosiderosis, pulmonary, with deficiency of gamma-a globulin -GARD:21448 Hendra virus infection -GARD:15181 Hennekam lymphangiectasia-lymphedema syndrome 1 -GARD:16047 Hennekam lymphangiectasia-lymphedema syndrome 2 -GARD:16296 Hennekam lymphangiectasia-lymphedema syndrome 3 -GARD:3318 Hennekam syndrome -GARD:3409 Hennekam-Beemer syndrome -GARD:2650 Heparin-induced thrombocytopenia -GARD:2651 Hepatic cystic hamartoma -GARD:5177 Hepatic fibrosis-renal cysts-intellectual disability syndrome -GARD:13004 Hepatic veno-occlusive disease -GARD:10083 Hepatic veno-occlusive disease-immunodeficiency syndrome -GARD:19117 Hepatitis B reinfection following liver transplantation -GARD:21716 Hepatitis delta -GARD:2657 Hepatoblastoma -GARD:18847 Hepatocellular adenoma -GARD:16773 Hepatocellular carcinoma -GARD:16949 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 -GARD:6169 Hepatoerythropoietic porphyria -GARD:18865 Hepatoportal sclerosis -GARD:19077 Hepatosplenic T-cell lymphoma -GARD:21017 Hereditary ATTR amyloidosis -GARD:17037 Hereditary North American Indian childhood cirrhosis -GARD:18781 Hereditary acrokeratotic poikiloderma -GARD:6611 Hereditary amyloidosis -GARD:8282 Hereditary amyloidosis with primary renal involvement -GARD:5979 Hereditary angioedema -GARD:16933 Hereditary angioedema type 1 -GARD:16934 Hereditary angioedema type 2 -GARD:22194 Hereditary angioedema with C1Inh deficiency -GARD:22195 Hereditary angioedema with normal C1Inh -GARD:22406 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant -GARD:10762 Hereditary arterial and articular multiple calcification syndrome -GARD:17524 Hereditary benign intraepithelial dyskeratosis -GARD:15010 Hereditary breast and ovarian cancer syndrome -GARD:17142 Hereditary breast cancer -GARD:1038 Hereditary bullous dystrophy, macular type -GARD:16629 Hereditary central diabetes insipidus -GARD:10266 Hereditary cerebral hemorrhage with amyloidosis -GARD:6632 Hereditary chronic pancreatitis -GARD:9571 Hereditary clear cell renal cell carcinoma -GARD:16856 Hereditary combined deficiency of vitamin K-dependent clotting factors -GARD:1512 Hereditary continuous muscle fiber activity -GARD:6619 Hereditary coproporphyria -GARD:10184 Hereditary cryohydrocytosis with normal stomatin -GARD:17036 Hereditary cryohydrocytosis with reduced stomatin -GARD:20094 Hereditary dentin defect -GARD:10900 Hereditary diffuse gastric cancer -GARD:10981 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia -GARD:6621 Hereditary elliptocytosis -GARD:20457 Hereditary episodic ataxia -GARD:13218 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome -GARD:12983 Hereditary folate malabsorption -GARD:6622 Hereditary fructose intolerance -GARD:21758 Hereditary gastric cancer -GARD:9501 Hereditary geniospasm -GARD:16582 Hereditary gingival fibromatosis -GARD:6626 Hereditary hemorrhagic telangiectasia -GARD:17090 Hereditary hypercarotenemia and vitamin A deficiency -GARD:3129 Hereditary hyperekplexia -GARD:2806 Hereditary hyperferritinemia-cataract syndrome -GARD:16977 Hereditary hypophosphatemic rickets with hypercalciuria -GARD:17124 Hereditary hypotrichosis with recurrent skin vesicles -GARD:21440 Hereditary inclusion body myopathy type 4 -GARD:9494 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome -GARD:17635 Hereditary isolated aplastic anemia -GARD:17684 Hereditary late-onset Parkinson disease -GARD:10096 Hereditary leiomyomatosis and renal cell cancer -GARD:2659 Hereditary methemoglobinemia -GARD:16981 Hereditary mixed polyposis syndrome -GARD:9208 Hereditary motor and sensory neuropathy type 5 -GARD:16787 Hereditary motor and sensory neuropathy type 6 -GARD:19124 Hereditary motor and sensory neuropathy with acrodystrophy -GARD:10131 Hereditary motor and sensory neuropathy, Okinawa type -GARD:5427 Hereditary mucoepithelial dysplasia -GARD:12591 Hereditary myopathy with early respiratory failure -GARD:16643 Hereditary myopathy with lactic acidosis due to ISCU deficiency -GARD:676 Hereditary neurocutaneous malformation -GARD:21899 Hereditary neuroendocrine tumor of small intestine -GARD:5221 Hereditary neuropathy with liability to pressure palsies -GARD:17287 Hereditary neutrophilia -GARD:8533 Hereditary nonpolyposis colon cancer -GARD:19540 Hereditary optic neuropathy -GARD:5429 Hereditary orotic aciduria -GARD:16705 Hereditary painful callosities -GARD:18988 Hereditary palmoplantar keratoderma -GARD:16767 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type -GARD:13157 Hereditary papillary renal cell carcinoma -GARD:17848 Hereditary pediatric Behçet-like disease -GARD:21453 Hereditary periodic fever syndrome -GARD:18647 Hereditary persistence of alpha-fetoprotein -GARD:18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome -GARD:22458 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome -GARD:18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome -GARD:11984 Hereditary pheochromocytoma-paraganglioma -GARD:20545 Hereditary poikiloderma -GARD:16989 Hereditary progressive mucinous histiocytosis -GARD:4582 Hereditary pulmonary alveolar proteinosis -GARD:9496 Hereditary renal hypouricemia -GARD:17544 Hereditary retinoblastoma -GARD:17136 Hereditary sclerosing poikiloderma, Weary type -GARD:11010 Hereditary sensorimotor neuropathy with hyperelastic skin -GARD:12688 Hereditary sensory and autonomic neuropathy -GARD:13568 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation -GARD:6635 Hereditary sensory and autonomic neuropathy type 1 -GARD:16958 Hereditary sensory and autonomic neuropathy type 1B -GARD:3976 Hereditary sensory and autonomic neuropathy type 2 -GARD:3006 Hereditary sensory and autonomic neuropathy type 4 -GARD:12328 Hereditary sensory and autonomic neuropathy type 5 -GARD:12987 Hereditary sensory and autonomic neuropathy type 6 -GARD:12732 Hereditary sensory and autonomic neuropathy type 7 -GARD:17866 Hereditary sensory and autonomic neuropathy type 8 -GARD:19920 Hereditary sensory and autonomic neuropathy with deafness and global delay -GARD:11927 Hereditary sensory neuropathy-deafness-dementia syndrome -GARD:20468 Hereditary site-specific ovarian cancer syndrome -GARD:6637 Hereditary spastic paraplegia -GARD:6639 Hereditary spherocytosis -GARD:19456 Hereditary stomatocytosis -GARD:16731 Hereditary thermosensitive neuropathy -GARD:17870 Hereditary thrombocytopenia with early-onset myelofibrosis -GARD:17267 Hereditary thrombocytopenia with normal platelets -GARD:6148 Hereditary thrombophilia due to congenital antithrombin deficiency -GARD:17125 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency -GARD:16628 Hereditary xanthinuria -GARD:11914 Heritable pulmonary arterial hypertension -GARD:6643 Hermansky-Pudlak syndrome -GARD:15026 Hermansky-Pudlak syndrome due to AP-3 deficiency -GARD:17170 Hermansky-Pudlak syndrome due to BLOC-1 deficiency -GARD:17169 Hermansky-Pudlak syndrome due to BLOC-2 deficiency -GARD:17168 Hermansky-Pudlak syndrome due to BLOC-3 deficiency -GARD:18331 Hermansky-pudlak syndrome 1 -GARD:16180 Hermansky-pudlak syndrome 10 -GARD:18339 Hermansky-pudlak syndrome 11 -GARD:9435 Hermansky-pudlak syndrome 2 -GARD:18333 Hermansky-pudlak syndrome 3 -GARD:18332 Hermansky-pudlak syndrome 4 -GARD:18334 Hermansky-pudlak syndrome 5 -GARD:18335 Hermansky-pudlak syndrome 6 -GARD:18336 Hermansky-pudlak syndrome 7 -GARD:18337 Hermansky-pudlak syndrome 8 -GARD:18338 Hermansky-pudlak syndrome 9 -GARD:15295 Hernia, anterior diaphragmatic -GARD:3491 Hernández-Aguirre Negrete syndrome -GARD:6649 Herpes simplex virus encephalitis -GARD:19879 Herpes simplex virus stromal keratitis -GARD:20406 Herpetiform pemphigus -GARD:10875 Heterotaxia -GARD:2056 Hidrotic ectodermal dysplasia -GARD:2682 Hidrotic ectodermal dysplasia, Christianson-Fourie type -GARD:280 Hidrotic ectodermal dysplasia, Halal type -GARD:21502 High altitude pulmonary edema -GARD:21366 High bone mass osteogenesis imperfecta -GARD:21980 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement -GARD:12844 High myopia-sensorineural deafness syndrome -GARD:20704 High-grade astrocytoma -GARD:20598 High-grade dysplasia in patients with Barrett esophagus -GARD:20489 High-grade neuroendocrine carcinoma of the cervix uteri -GARD:20482 High-grade neuroendocrine carcinoma of the corpus uteri -GARD:19047 Hinman syndrome -GARD:2690 Hip dysplasia, Beukes type -GARD:6660 Hirschsprung disease -GARD:15076 Hirschsprung disease, susceptibility to, 1 -GARD:15315 Hirschsprung disease, susceptibility to, 2 -GARD:15696 Hirschsprung disease, susceptibility to, 3 -GARD:15697 Hirschsprung disease, susceptibility to, 4 -GARD:15316 Hirschsprung disease, susceptibility to, 5 -GARD:15402 Hirschsprung disease, susceptibility to, 6 -GARD:15403 Hirschsprung disease, susceptibility to, 7 -GARD:15432 Hirschsprung disease, susceptibility to, 8 -GARD:15525 Hirschsprung disease, susceptibility to, 9 -GARD:157 Hirschsprung disease-deafness-polydactyly syndrome -GARD:2695 Hirschsprung disease-ganglioneuroblastoma syndrome -GARD:584 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome -GARD:2700 Hirschsprung disease-type D brachydactyly syndrome -GARD:2706 His bundle tachycardia -GARD:6661 Histidinemia -GARD:2708 Histidinuria-renal tubular defect syndrome -GARD:19441 Histiocytic and dendritic cell tumor -GARD:19080 Histiocytic sarcoma -GARD:9511 Histiocytoid cardiomyopathy -GARD:18692 Histoplasmosis -GARD:2714 Hodgkin lymphoma -GARD:5749 Holmes-Adie syndrome -GARD:2721 Holocarboxylase synthetase deficiency -GARD:6665 Holoprosencephaly -GARD:2722 Holoprosencephaly-caudal dysgenesis syndrome -GARD:2454 Holoprosencephaly-craniosynostosis syndrome -GARD:344 Holoprosencephaly-postaxial polydactyly syndrome -GARD:2727 Holoprosencephaly-radial heart renal anomalies syndrome -GARD:6666 Holt-Oram syndrome -GARD:2728 Holzgreve syndrome -GARD:2734 Homocystinuria due to methylene tetrahydrofolate reductase deficiency -GARD:16537 Homocystinuria without methylmalonic aciduria -GARD:21582 Homozygous 2p21 microdeletion syndrome -GARD:10416 Homozygous familial hypercholesterolemia -GARD:12682 Horizontal gaze palsy with progressive scoliosis -GARD:17028 Hot water reflex epilepsy -GARD:19703 House allergic alveolitis -GARD:346 Hoyeraal-Hreidarsson syndrome -GARD:20569 Hughes-Stovin syndrome -GARD:19830 Human herpesvirus 8-related disorder -GARD:21822 Human infection by orthopoxvirus -GARD:18851 Human prion disease -GARD:21192 Humeral agenesis/hypoplasia -GARD:2748 Humero-radial synostosis -GARD:2749 Humero-radio-ulnar synostosis -GARD:19244 Humero-ulnar synostosis -GARD:21220 Humero-ulnar synostosis, bilateral -GARD:21219 Humero-ulnar synostosis, unilateral -GARD:2750 Humerus trochlea aplasia -GARD:2754 Hunter-McAlpine syndrome -GARD:6677 Huntington disease -GARD:16985 Huntington disease-like 1 -GARD:16874 Huntington disease-like 2 -GARD:16986 Huntington disease-like 3 -GARD:20029 Huntington disease-like syndrome -GARD:21702 Huntington disease-like syndrome due to C9ORF72 expansions -GARD:8517 Huriez syndrome -GARD:12559 Hurler syndrome -GARD:12560 Hurler-Scheie syndrome -GARD:7467 Hutchinson-Gilford progeria syndrome -GARD:7148 Hyaline body myopathy -GARD:22029 Hyaline fibromatosis syndrome -GARD:16675 Hyaluronidase deficiency -GARD:10263 Hydatidiform mole -GARD:18365 Hydatidiform mole, recurrent, 1 -GARD:18366 Hydatidiform mole, recurrent, 2 -GARD:18367 Hydatidiform mole, recurrent, 3 -GARD:18368 Hydatidiform mole, recurrent, 4 -GARD:6681 Hydranencephaly -GARD:9654 Hydroa vacciniforme -GARD:21563 Hydroa vacciniforme-like lymphoma -GARD:434 Hydrocephalus with stenosis of the aqueduct of Sylvius -GARD:18090 Hydrocephalus, congenital communicating, 1 -GARD:236 Hydrocephalus-blue sclerae-nephropathy syndrome -GARD:5518 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome -GARD:2775 Hydrocephalus-obesity-hypogonadism syndrome -GARD:1200 Hydrocephaly-cerebellar agenesis syndrome -GARD:4199 Hydrocephaly-low insertion umbilicus syndrome -GARD:1666 Hydrocephaly-tall stature-joint laxity syndrome -GARD:6683 Hydrolethalus -GARD:15182 Hydrolethalus syndrome 1 -GARD:15759 Hydrolethalus syndrome 2 -GARD:2783 Hydrops fetalis -GARD:17966 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome -GARD:10039 Hydroxykynureninuria -GARD:2787 Hymenolepiasis -GARD:10956 Hyper-IgE syndrome -GARD:10578 Hyper-IgM syndrome type 2 -GARD:10579 Hyper-IgM syndrome type 3 -GARD:10580 Hyper-IgM syndrome type 4 -GARD:10581 Hyper-IgM syndrome type 5 -GARD:17084 Hyper-IgM syndrome with susceptibility to opportunistic infections -GARD:17085 Hyper-IgM syndrome without susceptibility to opportunistic infections -GARD:10267 Hyper-beta-alaninemia -GARD:20230 Hyperalphalipoproteinemia -GARD:18075 Hyperalphalipoproteinemia 1 -GARD:7158 Hyperammonemia due to N-acetylglutamate synthase deficiency -GARD:13201 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency -GARD:9882 Hyperandrogenism due to cortisone reductase deficiency -GARD:17279 Hyperbiliverdinemia -GARD:18434 Hypercalcemia, infantile, 1 -GARD:18435 Hypercalcemia, infantile, 2 -GARD:18584 Hypercalciuria, absorptive, 1 -GARD:18583 Hypercalciuria, absorptive, 2 -GARD:18301 Hypercarotenemia and vitamin a deficiency, autosomal dominant -GARD:18302 Hypercarotenemia and vitamin a deficiency, autosomal recessive -GARD:18340 Hypercholanemia, familial 1 -GARD:18341 Hypercholanemia, familial, 2 -GARD:20441 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency -GARD:8588 Hypercholesterolemia, familial, 2 -GARD:18614 Hypercholesterolemia, familial, 4 -GARD:9965 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency -GARD:21955 Hypercontractile muscle stiffness syndrome -GARD:21281 Hyperekplexia -GARD:15826 Hyperekplexia 2 -GARD:15825 Hyperekplexia 3 -GARD:16284 Hyperekplexia 4 -GARD:17010 Hyperekplexia-epilepsy syndrome -GARD:2804 Hypereosinophilic syndrome -GARD:298 Hypergonadotropic hypogonadism-cataract syndrome -GARD:2788 Hyperimmunoglobulinemia D with periodic fever -GARD:21849 Hyperinsulinemic hypoglycaemia -GARD:21444 Hyperinsulinism due to HNF1A deficiency -GARD:20903 Hyperinsulinism due to HNF4A deficiency -GARD:17256 Hyperinsulinism due to INSR deficiency -GARD:21054 Hyperinsulinism due to UCP2 deficiency -GARD:2818 Hyperinsulinism due to glucokinase deficiency -GARD:9870 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency -GARD:9931 Hyperinsulinism-hyperammonemia syndrome -GARD:195 Hyperkalemic periodic paralysis -GARD:2824 Hyperkeratosis lenticularis perstans -GARD:16563 Hyperkeratosis-hyperpigmentation syndrome -GARD:12864 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency -GARD:15077 Hyperlipidemia, familial combined, 3 -GARD:2828 Hyperlysinemia -GARD:15183 Hyperlysinemia due to defect in lysine transport into mitochondria -GARD:10764 Hypermethioninemia due to glycine N-methyltransferase deficiency -GARD:17321 Hypermethioninemia encephalopathy due to adenosine kinase deficiency -GARD:2081 Hypermobile Ehlers-Danlos syndrome -GARD:2830 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome -GARD:2833 Hyperostosis corticalis generalisata -GARD:17753 Hyperostosis cranialis interna -GARD:18253 Hyperparathyroidism 1 -GARD:18255 Hyperparathyroidism 3 -GARD:18256 Hyperparathyroidism 4 -GARD:18254 Hyperparathyroidism, primary, caused by water clear cell hyperplasia -GARD:16304 Hyperparathyroidism, transient neonatal -GARD:10829 Hyperparathyroidism-jaw tumor syndrome -GARD:21199 Hyperphalangy -GARD:17950 Hyperphenylalaninemia due to DNAJC12 deficiency -GARD:7751 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency -GARD:18349 Hyperphosphatasia with mental retardation syndrome 1 -GARD:18351 Hyperphosphatasia with mental retardation syndrome 2 -GARD:18350 Hyperphosphatasia with mental retardation syndrome 3 -GARD:18352 Hyperphosphatasia with mental retardation syndrome 4 -GARD:18354 Hyperphosphatasia with mental retardation syndrome 6 -GARD:17188 Hyperphosphatasia-intellectual disability syndrome -GARD:19004 Hyperpigmentation of the skin -GARD:18073 Hyperpigmentation with or without hypopigmentation, familial progressive -GARD:18074 Hyperpigmentation, familial progressive, 1 -GARD:2847 Hyperprolinemia type 1 -GARD:6710 Hyperprolinemia type 2 -GARD:12 Hypersensitivity pneumonitis -GARD:8240 Hypersensitivity pneumonitis, familial -GARD:287 Hypertelorism-hypospadias-polysyndactyly syndrome -GARD:897 Hypertelorism-microtia-facial clefting syndrome -GARD:17351 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome -GARD:19093 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor -GARD:143 Hypertrichosis cubiti -GARD:2865 Hypertrichosis lanuginosa congenita -GARD:21442 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation -GARD:19132 Hypertrophic or verrucous lupus erythematosus -GARD:15101 Hypertrophic osteoarthropathy, primary, autosomal dominant -GARD:15216 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 -GARD:15805 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 -GARD:2871 Hypertryptophanemia -GARD:17569 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome -GARD:17213 Hyperzincemia and hypercalprotectinemia -GARD:10796 Hypnic headache -GARD:3347 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome -GARD:18801 Hypoalphalipoproteinemia -GARD:18802 Hypobetalipoproteinemia -GARD:2876 Hypobetalipoproteinemia, familial, 1 -GARD:15376 Hypobetalipoproteinemia, familial, 2 -GARD:15951 Hypocalcemia, autosomal dominant 2 -GARD:21133 Hypocalcemic rickets -GARD:17319 Hypocalcemic vitamin D-dependent rickets -GARD:16805 Hypocalcemic vitamin D-resistant rickets -GARD:16931 Hypocalcified amelogenesis imperfecta -GARD:16815 Hypochondrogenesis -GARD:6724 Hypochondroplasia -GARD:6725 Hypocomplementemic urticarial vasculitis -GARD:5587 Hypodontia-dysplasia of nails syndrome -GARD:68 Hypoglossia-hypodactyly syndrome -GARD:19995 Hypoglossia/aglossia -GARD:1078 Hypogonadism-mitral valve prolapse-intellectual disability syndrome -GARD:3071 Hypogonadotropic hypogonadism 1 with or without anosmia -GARD:18600 Hypogonadotropic hypogonadism 10 with or without anosmia -GARD:15851 Hypogonadotropic hypogonadism 11 with or without anosmia -GARD:276 Hypogonadotropic hypogonadism 12 with or without anosmia -GARD:18601 Hypogonadotropic hypogonadism 13 with or without anosmia -GARD:15857 Hypogonadotropic hypogonadism 14 with or without anosmia -GARD:15872 Hypogonadotropic hypogonadism 15 with or without anosmia -GARD:15878 Hypogonadotropic hypogonadism 16 with or without anosmia -GARD:15928 Hypogonadotropic hypogonadism 17 with or without anosmia -GARD:15929 Hypogonadotropic hypogonadism 18 with or without anosmia -GARD:15931 Hypogonadotropic hypogonadism 19 with or without anosmia -GARD:3070 Hypogonadotropic hypogonadism 2 with or without anosmia -GARD:15932 Hypogonadotropic hypogonadism 20 with or without anosmia -GARD:15933 Hypogonadotropic hypogonadism 21 with or without anosmia -GARD:16050 Hypogonadotropic hypogonadism 22 with or without anosmia -GARD:16387 Hypogonadotropic hypogonadism 25 with anosmia -GARD:3073 Hypogonadotropic hypogonadism 3 with or without anosmia -GARD:10772 Hypogonadotropic hypogonadism 4 with or without anosmia -GARD:10773 Hypogonadotropic hypogonadism 5 with or without anosmia -GARD:10774 Hypogonadotropic hypogonadism 6 with or without anosmia -GARD:2897 Hypogonadotropic hypogonadism 7 with or without anosmia -GARD:15849 Hypogonadotropic hypogonadism 8 with or without anosmia -GARD:15850 Hypogonadotropic hypogonadism 9 with or without anosmia -GARD:324 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome -GARD:1234 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome -GARD:21174 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome -GARD:17967 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome -GARD:17562 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome -GARD:76 Hypohidrotic ectodermal dysplasia -GARD:9936 Hypohidrotic ectodermal dysplasia with immunodeficiency -GARD:2049 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome -GARD:17352 Hypoinsulinemic hypoglycemia and body hemihypertrophy -GARD:6729 Hypokalemic periodic paralysis -GARD:15649 Hypokalemic periodic paralysis, type 2 -GARD:2907 Hypomandibular faciocranial dysostosis -GARD:8349 Hypomaturation amelogenesis imperfecta -GARD:16932 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism -GARD:16948 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome -GARD:16604 Hypomyelination neuropathy-arthrogryposis syndrome -GARD:22405 Hypomyelination of early myelinating structures -GARD:10917 Hypomyelination with atrophy of basal ganglia and cerebellum -GARD:17554 Hypomyelination with brain stem and spinal cord involvement and leg spasticity -GARD:17773 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome -GARD:11980 Hypomyelination-congenital cataract syndrome -GARD:16771 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome -GARD:18257 Hypoparathyroidism, familial isolated, 2 -GARD:2914 Hypoparathyroidism, x-linked -GARD:2911 Hypoparathyroidism-sensorineural deafness-renal disease syndrome -GARD:6734 Hypophosphatasia -GARD:6735 Hypophosphatemic rickets -GARD:18416 Hypophosphatemic rickets, autosomal recessive, 1 -GARD:18417 Hypophosphatemic rickets, autosomal recessive, 2 -GARD:15011 Hypophosphatemic rickets, x-linked recessive -GARD:19005 Hypopigmentation of the skin -GARD:12384 Hypopigmentation-punctate palmoplantar keratoderma syndrome -GARD:19625 Hypoplasia of the mitral valve annulus -GARD:4380 Hypoplasminogenemia -GARD:645 Hypoplastic amelogenesis imperfecta -GARD:6739 Hypoplastic left heart syndrome -GARD:15803 Hypoplastic left heart syndrome 2 -GARD:5237 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome -GARD:2922 Hypoplastic right heart syndrome -GARD:16590 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome -GARD:18185 Hypospadias 1, x-linked -GARD:18186 Hypospadias 2, x-linked -GARD:18184 Hypospadias 3, autosomal -GARD:18187 Hypospadias 4, x-linked, susceptibility to -GARD:2928 Hypospadias-intellectual disability, Goldblatt type syndrome -GARD:21850 Hypothalamic adipsic hypernatraemia syndrome -GARD:19084 Hypothalamic hamartomas with gelastic seizures -GARD:16793 Hypothyroidism due to TSH receptor mutations -GARD:20562 Hypothyroidism due to deficient transcription factors involved in pituitary development or function -GARD:15165 Hypothyroidism, congenital, nongoitrous, 5 -GARD:16950 Hypotonia with lactic acidemia and hyperammonemia -GARD:18457 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 -GARD:18458 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 -GARD:16998 Hypotonia-cystinuria syndrome -GARD:20634 Hypotonia-cystinuria type 1 syndrome -GARD:16725 Hypotonia-failure to thrive-microcephaly syndrome -GARD:17609 Hypotonia-speech impairment-severe cognitive delay syndrome -GARD:15782 Hypotrichosis 10 -GARD:15900 Hypotrichosis 11 -GARD:16027 Hypotrichosis 12 -GARD:16029 Hypotrichosis 13 -GARD:16335 Hypotrichosis 14 -GARD:18093 Hypotrichosis 2 -GARD:18094 Hypotrichosis 3 -GARD:15078 Hypotrichosis 4 -GARD:15585 Hypotrichosis 5 -GARD:15423 Hypotrichosis 6 -GARD:8178 Hypotrichosis 7 -GARD:15247 Hypotrichosis 8 -GARD:15781 Hypotrichosis 9 -GARD:9170 Hypotrichosis simplex -GARD:16789 Hypotrichosis simplex of the scalp -GARD:3066 Hypotrichosis with juvenile macular degeneration -GARD:21504 Hypotrichosis-deafness syndrome -GARD:18763 Hypotrichosis-intellectual disability, Lopes type -GARD:15420 Hypotrichosis-lymphedema-telangiectasia syndrome -GARD:12827 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome -GARD:2492 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome -GARD:17384 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome -GARD:15296 Hypouricemia, familial renal, due to tubular hypersecretion -GARD:15186 Hypouricemia, hypercalcinuria, and decreased bone density -GARD:15541 Hypouricemia, renal, 2 -GARD:16710 Hypoxanthine guanine phosphoribosyltransferase partial deficiency -GARD:2943 Hypoxanthine-guanine phosphoribosyltransferase deficiency -GARD:2945 ICF syndrome -GARD:17852 IL21-related infantile inflammatory bowel disease -GARD:12312 IMAGe syndrome -GARD:22396 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome -GARD:10957 IRIDA syndrome -GARD:12868 IRVAN syndrome -GARD:17519 ISPD-related limb-girdle muscular dystrophy R20 -GARD:17741 ITM2B amyloidosis -GARD:17806 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement -GARD:269 IVIC syndrome -GARD:22329 Iatrogenic Creutzfeldt-Jakob disease -GARD:20747 Iatrogenic botulism -GARD:18985 Ichthyosis -GARD:2952 Ichthyosis follicularis-alopecia-photophobia syndrome -GARD:2954 Ichthyosis hystrix of Curth-Macklin -GARD:3170 Ichthyosis, congenital, autosomal recessive 1 -GARD:15897 Ichthyosis, congenital, autosomal recessive 10 -GARD:16471 Ichthyosis, congenital, autosomal recessive 14 -GARD:15187 Ichthyosis, congenital, autosomal recessive 2 -GARD:15393 Ichthyosis, congenital, autosomal recessive 3 -GARD:9733 Ichthyosis, congenital, autosomal recessive 4a -GARD:9734 Ichthyosis, congenital, autosomal recessive 5 -GARD:15547 Ichthyosis, congenital, autosomal recessive 6 -GARD:15895 Ichthyosis, congenital, autosomal recessive 7 -GARD:16457 Ichthyosis, congenital, autosomal recessive 8 -GARD:15896 Ichthyosis, congenital, autosomal recessive 9 -GARD:15417 Ichthyosis, cyclic, with epidermolytic hyperkeratosis -GARD:15349 Ichthyosis, hystrix-like, with deafness -GARD:15250 Ichthyosis, x-linked, without steroid sulfatase deficiency -GARD:292 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome -GARD:1993 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome -GARD:10116 Ichthyosis-hypotrichosis syndrome -GARD:4641 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome -GARD:2960 Ichthyosis-oral and digital anomalies syndrome -GARD:9886 Ichthyosis-prematurity syndrome -GARD:17579 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome -GARD:12375 Idiopathic CD4 lymphocytopenia -GARD:5708 Idiopathic achalasia -GARD:519 Idiopathic acute eosinophilic pneumonia -GARD:19914 Idiopathic acute transverse myelitis -GARD:21098 Idiopathic anterior uveitis -GARD:5836 Idiopathic aplastic anemia -GARD:21665 Idiopathic avascular necrosis -GARD:20124 Idiopathic bilateral vestibulopathy -GARD:16664 Idiopathic bronchiectasis -GARD:1063 Idiopathic camptocormia -GARD:20119 Idiopathic central precocious puberty -GARD:1130 Idiopathic chronic eosinophilic pneumonia -GARD:19298 Idiopathic congenital hypothyroidism -GARD:17106 Idiopathic copper-associated cirrhosis -GARD:21874 Idiopathic dropped head syndrome -GARD:21975 Idiopathic ductopenia -GARD:20664 Idiopathic eosinophilic myositis -GARD:20246 Idiopathic eosinophilic pneumonia -GARD:22249 Idiopathic gastroparesis -GARD:21494 Idiopathic giant cell myocarditis -GARD:19085 Idiopathic hemiconvulsion-hemiplegia syndrome -GARD:16587 Idiopathic hypercalciuria -GARD:16625 Idiopathic hypereosinophilic syndrome -GARD:8737 Idiopathic hypersomnia -GARD:9128 Idiopathic inflammatory myopathy -GARD:13337 Idiopathic interstitial pneumonia -GARD:4561 Idiopathic intracranial hypertension -GARD:19292 Idiopathic isolated micropenis -GARD:6760 Idiopathic juvenile osteoporosis -GARD:21365 Idiopathic linear interstitial keratitis -GARD:19127 Idiopathic localized lipodystrophy -GARD:21531 Idiopathic macular telangiectasia type 1 -GARD:21532 Idiopathic macular telangiectasia type 3 -GARD:19046 Idiopathic malabsorption due to bile acid synthesis defects -GARD:22309 Idiopathic multicentric Castleman disease -GARD:22287 Idiopathic multidrug-resistant nephrotic syndrome -GARD:18831 Idiopathic neonatal atrial flutter -GARD:21539 Idiopathic nephrotic syndrome -GARD:22285 Idiopathic non-lupus full-house nephropathy -GARD:22041 Idiopathic optic perineuritis -GARD:20087 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes -GARD:21100 Idiopathic panuveitis -GARD:21977 Idiopathic peliosis hepatis -GARD:21860 Idiopathic phalangeal acro-osteolysis -GARD:22004 Idiopathic pleuroparenchymal fibroelastosis -GARD:21099 Idiopathic posterior uveitis -GARD:21025 Idiopathic pulmonary arterial hypertension -GARD:6757 Idiopathic pulmonary artery dilatation -GARD:8609 Idiopathic pulmonary fibrosis -GARD:6763 Idiopathic pulmonary hemosiderosis -GARD:20695 Idiopathic recurrent pericarditis -GARD:21045 Idiopathic recurrent stupor -GARD:10822 Idiopathic spontaneous coronary artery dissection -GARD:18003 Idiopathic steroid-resistant nephrotic syndrome -GARD:22288 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy -GARD:16678 Idiopathic steroid-sensitive nephrotic syndrome -GARD:22286 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance -GARD:19693 Idiopathic syringomyelia -GARD:10363 Idiopathic trachyonychia -GARD:20442 Idiopathic uveal effusion syndrome -GARD:4227 Idiopathic ventricular fibrillation, non Brugada type -GARD:16531 Idiopathic/heritable pulmonary arterial hypertension -GARD:15297 Ifap syndrome 1, with or without bresheck syndrome -GARD:16402 Ifap syndrome 2 -GARD:22242 IgA pemphigus -GARD:21883 IgG4-related aortitis -GARD:7043 IgG4-related dacryoadenitis and sialadenitis -GARD:12521 IgG4-related disease -GARD:21882 IgG4-related kidney disease -GARD:8337 IgG4-related mediastinitis -GARD:8169 IgG4-related mesenteritis -GARD:21885 IgG4-related ophthalmic disease -GARD:13256 IgG4-related pachymeningitis -GARD:9568 IgG4-related retroperitoneal fibrosis -GARD:21867 IgG4-related sclerosing cholangitis -GARD:21884 IgG4-related submandibular gland disease -GARD:22391 IgG4-related systemic disease -GARD:18866 IgG4-related thyroid disease -GARD:19753 Ileal neuroendocrine tumor -GARD:20637 Ileal pouch anal anastomosis related faecal incontinence -GARD:16381 Imagawa-matsumoto syndrome -GARD:7006 Imerslund-Gräsbeck syndrome -GARD:8424 Iminoglycinuria -GARD:19984 Immune complex mediated vasculitis -GARD:22464 Immune deficiency due to impaired neutrophil phagocytosis and migration -GARD:19019 Immune deficiency with skin involvement -GARD:2984 Immune deficiency, familial variable -GARD:16400 Immune dysregulation and systemic hyperinflammation syndrome -GARD:20117 Immune dysregulation disease with immunodeficiency -GARD:22203 Immune dysregulation with inflammatory bowel disease -GARD:13016 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome -GARD:22204 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome -GARD:1850 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome -GARD:21561 Immune hydrops fetalis -GARD:5194 Immune thrombocytopenia -GARD:21933 Immune-mediated acquired neuromuscular junction disease -GARD:22494 Immune-mediated cerebellar ataxia -GARD:20351 Immune-mediated necrotizing myopathy -GARD:4607 Immune-mediated thrombotic thrombocytopenic purpura -GARD:20115 Immuno-osseous dysplasia -GARD:18293 Immunodeficiency 104 -GARD:15979 Immunodeficiency 14a, autosomal dominant -GARD:18469 Immunodeficiency 15a -GARD:18468 Immunodeficiency 15b -GARD:18295 Immunodeficiency 18 -GARD:18296 Immunodeficiency 19 -GARD:18294 Immunodeficiency 25 -GARD:16046 Immunodeficiency 36 -GARD:15185 Immunodeficiency 43 -GARD:15732 Immunodeficiency 51 -GARD:10007 Immunodeficiency 61 -GARD:16360 Immunodeficiency 64 -GARD:18299 Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis -GARD:18300 Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia -GARD:18194 Immunodeficiency 75 -GARD:15600 Immunodeficiency 83, susceptibility to viral infections -GARD:8427 Immunodeficiency by defective expression of MHC class I -GARD:824 Immunodeficiency by defective expression of MHC class II -GARD:17049 Immunodeficiency due to CD25 deficiency -GARD:17512 Immunodeficiency due to MASP-2 deficiency -GARD:15025 Immunodeficiency due to a classical component pathway complement deficiency -GARD:21919 Immunodeficiency due to a complement cascade component deficiency -GARD:19811 Immunodeficiency due to a complement cascade protein anomaly -GARD:21920 Immunodeficiency due to a complement regulatory deficiency -GARD:17050 Immunodeficiency due to a late component of complement deficiency -GARD:21511 Immunodeficiency due to absence of thymus -GARD:17513 Immunodeficiency due to ficolin3 deficiency -GARD:10311 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency -GARD:11903 Immunodeficiency due to selective anti-polysaccharide antibody deficiency -GARD:19807 Immunodeficiency predominantly affecting antibody production -GARD:20116 Immunodeficiency syndrome with autoimmunity -GARD:21515 Immunodeficiency syndrome with hypopigmentation -GARD:17099 Immunodeficiency with factor H anomaly -GARD:17098 Immunodeficiency with factor I anomaly -GARD:21512 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells -GARD:21513 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells -GARD:15990 Immunodeficiency, common variable, 10 -GARD:16141 Immunodeficiency, common variable, 12, with autoimmunity -GARD:15184 Immunodeficiency, common variable, 2 -GARD:15668 Immunodeficiency, common variable, 3 -GARD:15669 Immunodeficiency, common variable, 4 -GARD:15670 Immunodeficiency, common variable, 5 -GARD:15671 Immunodeficiency, common variable, 6 -GARD:15836 Immunodeficiency, common variable, 7 -GARD:19443 Immunodeficiency-associated lymphoproliferative disease -GARD:15188 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 -GARD:15751 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 -GARD:16168 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 -GARD:16169 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 -GARD:8204 Immunoglobulin A vasculitis -GARD:20111 Immunoglobulin heavy chain deficiency -GARD:17506 Immunoglobulin-mediated membranoproliferative glomerulonephritis -GARD:12048 Immunotactoid glomerulopathy -GARD:12741 Immunotactoid or fibrillary glomerulopathy -GARD:2989 Imperforate oropharynx-costovertebral anomalies syndrome -GARD:18832 Incessant infant ventricular tachycardia -GARD:10899 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia -GARD:15962 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 -GARD:15963 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 -GARD:3896 Inclusion body myositis -GARD:20364 Inclusion myopathy -GARD:22394 Incomplete septal cirrhosis -GARD:6778 Incontinentia pigmenti -GARD:20022 Indeterminate cell histiocytosis -GARD:21244 Indolent B-cell non-Hodgkin lymphoma -GARD:20164 Indolent primary cutaneous B-cell lymphoma -GARD:20161 Indolent primary cutaneous T-cell lymphoma -GARD:19595 Indolent systemic mastocytosis -GARD:2303 Indomethacin embryofetopathy -GARD:112 Infant acute respiratory distress syndrome -GARD:20150 Infant botulism -GARD:20343 Infantile Krabbe disease -GARD:4648 Infantile Refsum disease -GARD:6779 Infantile apnea -GARD:5040 Infantile bilateral striatal necrosis -GARD:13264 Infantile cerebellar-retinal degeneration -GARD:10995 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly -GARD:1313 Infantile choroidocerebral calcification syndrome -GARD:8553 Infantile convulsions and choreoathetosis -GARD:8487 Infantile digital fibromatosis -GARD:10484 Infantile dystonia-parkinsonism -GARD:19436 Infantile epilepsy syndrome -GARD:17582 Infantile epileptic-dyskinetic encephalopathy -GARD:17333 Infantile glycine encephalopathy -GARD:20453 Infantile hemangioma of rare localization -GARD:12892 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency -GARD:17192 Infantile hypophosphatasia -GARD:17962 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome -GARD:18000 Infantile inflammatory bowel disease with neurological involvement -GARD:13113 Infantile liver failure syndrome 2 -GARD:16483 Infantile liver failure syndrome 3 -GARD:20653 Infantile mercury poisoning -GARD:17791 Infantile multisystem neurologic-endocrine-pancreatic disease -GARD:2998 Infantile myofibromatosis -GARD:16825 Infantile nephronophthisis -GARD:9755 Infantile nephropathic cystinosis -GARD:3957 Infantile neuroaxonal dystrophy -GARD:9447 Infantile neuronal ceroid lipofuscinosis -GARD:7206 Infantile neurovisceral acid sphingomyelinase deficiency -GARD:20694 Infantile onset panniculitis with uveitis and systemic granulomatosis -GARD:10082 Infantile osteopetrosis with neuroaxonal dysplasia -GARD:7887 Infantile spasms syndrome -GARD:3002 Infantile spasms-broad thumbs syndrome -GARD:20899 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome -GARD:6807 Infantile systemic hyalinosis -GARD:8521 Infantile-onset X-linked spinal muscular atrophy -GARD:4914 Infantile-onset ascending hereditary spastic paralysis -GARD:4954 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia -GARD:21904 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome -GARD:17905 Infantile-onset generalized dyskinesia with orofacial involvement -GARD:21619 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression -GARD:13198 Infantile-onset periodic fever-panniculitis-dermatosis syndrome -GARD:22313 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia -GARD:4062 Infantile-onset spinocerebellar ataxia -GARD:22234 Infection-related hemolytic uremic syndrome -GARD:21067 Infectious anterior uveitis -GARD:19386 Infectious disease of the nervous system -GARD:19489 Infectious disease with dementia -GARD:20092 Infectious disease with epilepsy -GARD:20357 Infectious disease with peripheral neuropathy -GARD:20626 Infectious embryofetopathy -GARD:19433 Infectious encephalitis -GARD:19877 Infectious epithelial keratitis -GARD:21068 Infectious panuveitis -GARD:21066 Infectious posterior uveitis -GARD:20376 Infectious, fungal or parasitic myopathy -GARD:21135 Infective dermatitis associated with HTLV-1 -GARD:6337 Infective endocarditis -GARD:22085 Infective keratitis -GARD:19664 Inferior vena cava interruption without azygos continuation -GARD:20090 Inflammatory and autoimmune disease with epilepsy -GARD:18342 Inflammatory bowel disease 25, autosomal recessive -GARD:18343 Inflammatory bowel disease 28, autosomal recessive -GARD:22205 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome -GARD:5484 Inflammatory linear verrucous epidermal nevus -GARD:7146 Inflammatory myofibroblastic tumor -GARD:20663 Inflammatory myopathy with abundant macrophages -GARD:19098 Inflammatory pseudotumor of the liver -GARD:18429 Inflammatory skin and bowel disease, neonatal, 1 -GARD:18430 Inflammatory skin and bowel disease, neonatal, 2 -GARD:22078 Inflammatory/autoimmune disorder involving the lacrimal system -GARD:20632 Infundibulo-neurohypophysitis -GARD:20657 Inhalational anthrax -GARD:20746 Inhalational botulism -GARD:17307 Inherited Creutzfeldt-Jakob disease -GARD:17450 Inherited acute myeloid leukemia -GARD:19921 Inherited cancer-predisposing syndrome -GARD:17449 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations -GARD:17109 Inherited congenital spastic tetraplegia -GARD:21793 Inherited digestive cancer-predisposing syndrome -GARD:18992 Inherited epidermolysis bullosa -GARD:22360 Inherited gynecological cancer-predisposing syndrome -GARD:22461 Inherited hematologic cancer-predisposing syndrome -GARD:21085 Inherited human prion disease -GARD:20261 Inherited ichthyosis -GARD:21105 Inherited ichthyosis syndromic form -GARD:21143 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency -GARD:20742 Inherited nervous system cancer-predisposing syndrome -GARD:21104 Inherited non-syndromic ichthyosis -GARD:21420 Inherited renal cancer-predisposing syndrome -GARD:18916 Inherited retinal disorder -GARD:10506 Iniencephaly -GARD:10808 Insulin autoimmune syndrome -GARD:3008 Insulin-resistance syndrome type A -GARD:3009 Insulin-resistance syndrome type B -GARD:3010 Insulinoma -GARD:16306 Intellectual developmental disorder and retinitis pigmentosa -GARD:18516 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature -GARD:18512 Intellectual developmental disorder with autism and speech delay -GARD:18522 Intellectual developmental disorder with autistic features and language delay, with or without seizures -GARD:18529 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies -GARD:18520 Intellectual developmental disorder with impaired language and dysmorphic facies -GARD:18527 Intellectual developmental disorder with seizures and language delay -GARD:18518 Intellectual developmental disorder with severe speech and ambulation defects -GARD:22581 Intellectual developmental disorder with short stature and behavioral abnormalities -GARD:18536 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy -GARD:18623 Intellectual developmental disorder, autosomal dominant 1 -GARD:16460 Intellectual developmental disorder, autosomal dominant 10 -GARD:16462 Intellectual developmental disorder, autosomal dominant 13 -GARD:16458 Intellectual developmental disorder, autosomal dominant 2 -GARD:13379 Intellectual developmental disorder, autosomal dominant 29 -GARD:16454 Intellectual developmental disorder, autosomal dominant 3 -GARD:13136 Intellectual developmental disorder, autosomal dominant 30 -GARD:16082 Intellectual developmental disorder, autosomal dominant 33 -GARD:16469 Intellectual developmental disorder, autosomal dominant 38 -GARD:16455 Intellectual developmental disorder, autosomal dominant 4 -GARD:18501 Intellectual developmental disorder, autosomal dominant 42 -GARD:13179 Intellectual developmental disorder, autosomal dominant 43 -GARD:12558 Intellectual developmental disorder, autosomal dominant 5 -GARD:16472 Intellectual developmental disorder, autosomal dominant 52 -GARD:16473 Intellectual developmental disorder, autosomal dominant 53 -GARD:16474 Intellectual developmental disorder, autosomal dominant 54 -GARD:16260 Intellectual developmental disorder, autosomal dominant 55, with seizures -GARD:13524 Intellectual developmental disorder, autosomal dominant 56 -GARD:16476 Intellectual developmental disorder, autosomal dominant 58 -GARD:12851 Intellectual developmental disorder, autosomal dominant 6, with or without seizures -GARD:16367 Intellectual developmental disorder, autosomal dominant 60, with seizures -GARD:18514 Intellectual developmental disorder, autosomal dominant 61 -GARD:16478 Intellectual developmental disorder, autosomal dominant 64 -GARD:18547 Intellectual developmental disorder, autosomal dominant 65 -GARD:22537 Intellectual developmental disorder, autosomal recessive 1 -GARD:22545 Intellectual developmental disorder, autosomal recessive 10 -GARD:22546 Intellectual developmental disorder, autosomal recessive 11 -GARD:22540 Intellectual developmental disorder, autosomal recessive 12 -GARD:22548 Intellectual developmental disorder, autosomal recessive 13 -GARD:22549 Intellectual developmental disorder, autosomal recessive 14 -GARD:22551 Intellectual developmental disorder, autosomal recessive 16 -GARD:22552 Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy -GARD:22558 Intellectual developmental disorder, autosomal recessive 19 -GARD:22538 Intellectual developmental disorder, autosomal recessive 2 -GARD:22559 Intellectual developmental disorder, autosomal recessive 23 -GARD:22560 Intellectual developmental disorder, autosomal recessive 24 -GARD:22561 Intellectual developmental disorder, autosomal recessive 25 -GARD:22555 Intellectual developmental disorder, autosomal recessive 27 -GARD:22562 Intellectual developmental disorder, autosomal recessive 28 -GARD:22554 Intellectual developmental disorder, autosomal recessive 29 -GARD:22539 Intellectual developmental disorder, autosomal recessive 3 -GARD:22557 Intellectual developmental disorder, autosomal recessive 30 -GARD:22553 Intellectual developmental disorder, autosomal recessive 31 -GARD:22556 Intellectual developmental disorder, autosomal recessive 33 -GARD:22563 Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly -GARD:22547 Intellectual developmental disorder, autosomal recessive 4 -GARD:22565 Intellectual developmental disorder, autosomal recessive 43 -GARD:22566 Intellectual developmental disorder, autosomal recessive 44 -GARD:22567 Intellectual developmental disorder, autosomal recessive 45 -GARD:22568 Intellectual developmental disorder, autosomal recessive 46 -GARD:22569 Intellectual developmental disorder, autosomal recessive 47 -GARD:22541 Intellectual developmental disorder, autosomal recessive 5 -GARD:22570 Intellectual developmental disorder, autosomal recessive 50 -GARD:22571 Intellectual developmental disorder, autosomal recessive 51 -GARD:22572 Intellectual developmental disorder, autosomal recessive 52 -GARD:22573 Intellectual developmental disorder, autosomal recessive 54 -GARD:22574 Intellectual developmental disorder, autosomal recessive 56 -GARD:22575 Intellectual developmental disorder, autosomal recessive 57 -GARD:22542 Intellectual developmental disorder, autosomal recessive 6 -GARD:16475 Intellectual developmental disorder, autosomal recessive 63 -GARD:22578 Intellectual developmental disorder, autosomal recessive 65 -GARD:22579 Intellectual developmental disorder, autosomal recessive 66 -GARD:22543 Intellectual developmental disorder, autosomal recessive 7 -GARD:22580 Intellectual developmental disorder, autosomal recessive 70 -GARD:16208 Intellectual developmental disorder, autosomal recessive 74 -GARD:22544 Intellectual developmental disorder, autosomal recessive 9 -GARD:22699 Intellectual developmental disorder, x-linked 1 -GARD:22694 Intellectual developmental disorder, x-linked 101 -GARD:22696 Intellectual developmental disorder, x-linked 104 -GARD:22697 Intellectual developmental disorder, x-linked 105 -GARD:22698 Intellectual developmental disorder, x-linked 107 -GARD:8557 Intellectual developmental disorder, x-linked 14 -GARD:22687 Intellectual developmental disorder, x-linked 19 -GARD:22675 Intellectual developmental disorder, x-linked 2 -GARD:22667 Intellectual developmental disorder, x-linked 20 -GARD:22669 Intellectual developmental disorder, x-linked 21 -GARD:22666 Intellectual developmental disorder, x-linked 23 -GARD:5614 Intellectual developmental disorder, x-linked 29 -GARD:22682 Intellectual developmental disorder, x-linked 30 -GARD:22689 Intellectual developmental disorder, x-linked 41 -GARD:22674 Intellectual developmental disorder, x-linked 42 -GARD:22679 Intellectual developmental disorder, x-linked 45 -GARD:22677 Intellectual developmental disorder, x-linked 46 -GARD:22668 Intellectual developmental disorder, x-linked 50 -GARD:22672 Intellectual developmental disorder, x-linked 53 -GARD:22670 Intellectual developmental disorder, x-linked 58 -GARD:5613 Intellectual developmental disorder, x-linked 63 -GARD:22671 Intellectual developmental disorder, x-linked 72 -GARD:22673 Intellectual developmental disorder, x-linked 73 -GARD:22678 Intellectual developmental disorder, x-linked 77 -GARD:22676 Intellectual developmental disorder, x-linked 81 -GARD:22680 Intellectual developmental disorder, x-linked 84 -GARD:22700 Intellectual developmental disorder, x-linked 9 -GARD:22690 Intellectual developmental disorder, x-linked 90 -GARD:22684 Intellectual developmental disorder, x-linked 95 -GARD:22685 Intellectual developmental disorder, x-linked 96 -GARD:22686 Intellectual developmental disorder, x-linked 97 -GARD:22693 Intellectual developmental disorder, x-linked 99 -GARD:15282 Intellectual developmental disorder, x-linked, syndromic, houge type -GARD:15254 Intellectual developmental disorder, x-linked, syndromic, lubs type -GARD:15264 Intellectual developmental disorder, x-linked, syndromic, raymond type -GARD:81 Intellectual developmental disorder, x-linked, syndromic, turner type -GARD:21926 Intellectual disability syndrome due to a DYRK1A point mutation -GARD:10358 Intellectual disability, Birk-Barel type -GARD:3485 Intellectual disability, Buenos-Aires type -GARD:3530 Intellectual disability, Wolff type -GARD:17326 Intellectual disability-alacrima-achalasia syndrome -GARD:17970 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome -GARD:257 Intellectual disability-balding-patella luxation-acromicria syndrome -GARD:17583 Intellectual disability-brachydactyly-Pierre Robin syndrome -GARD:17948 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome -GARD:4488 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome -GARD:20128 Intellectual disability-cataracts-kyphosis syndrome -GARD:17636 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome -GARD:13043 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome -GARD:7890 Intellectual disability-developmental delay-contractures syndrome -GARD:9811 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome -GARD:13474 Intellectual disability-epilepsy-extrapyramidal syndrome -GARD:17724 Intellectual disability-expressive aphasia-facial dysmorphism syndrome -GARD:17673 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency -GARD:21585 Intellectual disability-facial dysmorphism-hand anomalies syndrome -GARD:21579 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome -GARD:12487 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome -GARD:21379 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome -GARD:3521 Intellectual disability-hypotonic facies syndrome, x-linked, 1 -GARD:17802 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome -GARD:21906 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome -GARD:1358 Intellectual disability-myopathy-short stature-endocrine defect syndrome -GARD:21521 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome -GARD:17648 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome -GARD:3141 Intellectual disability-polydactyly-uncombable hair syndrome -GARD:17953 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome -GARD:17584 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome -GARD:21583 Intellectual disability-seizures-macrocephaly-obesity syndrome -GARD:12501 Intellectual disability-severe speech delay-mild dysmorphism syndrome -GARD:3514 Intellectual disability-short stature-hypertelorism syndrome -GARD:3523 Intellectual disability-spasticity-ectrodactyly syndrome -GARD:17563 Intellectual disability-strabismus syndrome -GARD:15018 Interatrial communication -GARD:21180 Intercalary limb defects -GARD:16765 Interdigitating dendritic cell sarcoma -GARD:21954 Intermediate Charcot-Marie-Tooth disease -GARD:19724 Intermediate DEND syndrome -GARD:22325 Intermediate atrioventricular septal defect -GARD:17951 Intermediate epidermolysis bullosa simplex with cardiomyopathy -GARD:12922 Intermediate generalized junctional epidermolysis bullosa -GARD:17264 Intermediate maple syrup urine disease -GARD:12823 Intermediate nemaline myopathy -GARD:4156 Intermediate osteopetrosis -GARD:10871 Intermediate severe Salla disease -GARD:21065 Intermediate uveitis -GARD:21499 Intermittent hydrarthrosis -GARD:17265 Intermittent maple syrup urine disease -GARD:3012 Internal carotid absence -GARD:18825 Interstitial cystitis -GARD:18940 Interstitial granulomatous dermatitis with arthritis -GARD:20244 Interstitial lung disease -GARD:17745 Interstitial lung disease due to ABCA3 deficiency -GARD:17744 Interstitial lung disease due to SP-C deficiency -GARD:20934 Interstitial lung disease in childhood and adulthood -GARD:20931 Interstitial lung disease specific to adulthood -GARD:20921 Interstitial lung disease specific to childhood -GARD:20925 Interstitial lung disease specific to infancy -GARD:17377 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome -GARD:18205 Interstitial pneumonitis, desquamative, familial -GARD:16895 Interventricular septum aneurysm -GARD:20151 Intestinal botulism -GARD:19843 Intestinal disease due to fat malabsorption -GARD:19842 Intestinal disease due to vitamin absorption anomaly -GARD:12331 Intestinal lymphangiectasia -GARD:19384 Intestinal malformation -GARD:17418 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency -GARD:19847 Intestinal polyposis syndrome -GARD:3017 Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked -GARD:18918 Intractable diarrhea of infancy -GARD:19882 Intractable diarrhea-choanal atresia-eye anomalies syndrome -GARD:21779 Intraductal papillary mucinous carcinoma of pancreas -GARD:22331 Intraductal tubulopapillary neoplasm of pancreas -GARD:9804 Intrahepatic cholestasis of pregnancy -GARD:21090 Intralobar congenital pulmonary sequestration -GARD:10921 Intraneural perineurioma -GARD:20945 Intraocular medulloepithelioma -GARD:17949 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome -GARD:21818 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome -GARD:5593 Intrauterine growth retardation with increased mitomycin c sensitivity -GARD:19590 Intravascular large B-cell lymphoma -GARD:15190 Intrinsic factor and r binder, combined congenital deficiency of -GARD:19120 Invasive infections due to vancomycin-resistant enterococci -GARD:19711 Invasive mole -GARD:21449 Invasive non-typhoidal salmonellosis -GARD:21488 Inverse Klippel-Trénaunay syndrome -GARD:19608 Inverse Marcus-Gunn phenomenon -GARD:5153 Inverted duplicated chromosome 15 syndrome -GARD:60 Iridocorneal endothelial syndrome -GARD:6793 Isaacs syndrome -GARD:19052 Ischiovertebral syndrome -GARD:10223 Isobutyryl-CoA dehydrogenase deficiency -GARD:19349 Isochromosome Y -GARD:19579 Isochromosomy Yp -GARD:19580 Isochromosomy Yq -GARD:18649 Isolated ATP synthase deficiency -GARD:6242 Isolated Dandy-Walker malformation -GARD:20993 Isolated Dandy-Walker malformation with hydrocephalus -GARD:20994 Isolated Dandy-Walker malformation without hydrocephalus -GARD:10280 Isolated Klippel-Feil syndrome -GARD:4347 Isolated Pierre Robin syndrome -GARD:17155 Isolated agammaglobulinemia -GARD:21844 Isolated agenesis of gallbladder -GARD:20976 Isolated amyelia -GARD:22254 Isolated anencephaly -GARD:5808 Isolated anencephaly/exencephaly -GARD:5816 Isolated aniridia -GARD:19168 Isolated ankyloblepharon filiforme adnatum -GARD:8438 Isolated anterior cervical hypertrichosis -GARD:20979 Isolated arhinencephaly -GARD:364 Isolated arrhinia -GARD:20356 Isolated asymptomatic elevation of creatine phosphokinase -GARD:20334 Isolated autosomal dominant hypomagnesemia, Glaudemans type -GARD:20996 Isolated bilateral hemispheric cerebellar hypoplasia -GARD:12010 Isolated biliary atresia -GARD:22124 Isolated blepharochalasis -GARD:20037 Isolated bone marrow mastocytosis -GARD:18720 Isolated cerebellar agenesis -GARD:20990 Isolated cerebellar vermis agenesis -GARD:20337 Isolated cerebellar vermis hypoplasia -GARD:12889 Isolated childhood apraxia of speech -GARD:22096 Isolated chorioretinal dystrophy -GARD:17091 Isolated cleft lip -GARD:3908 Isolated complex I deficiency -GARD:8295 Isolated complex III deficiency -GARD:12550 Isolated congenital adermatoglyphia -GARD:22263 Isolated congenital aglossia -GARD:16799 Isolated congenital alacrima -GARD:10048 Isolated congenital anonychia -GARD:9486 Isolated congenital anosmia -GARD:20040 Isolated congenital auditory ossicle malformation -GARD:9489 Isolated congenital breast hypoplasia/aplasia -GARD:17117 Isolated congenital digital clubbing -GARD:19673 Isolated congenital ectropion -GARD:22123 Isolated congenital entropion -GARD:21995 Isolated congenital hepatic fibrosis -GARD:22264 Isolated congenital hypoglossia -GARD:16972 Isolated congenital hypoglossia/aglossia -GARD:20643 Isolated congenital hypogonadotropic hypogonadism -GARD:12648 Isolated congenital megalocornea -GARD:3603 Isolated congenital microcephaly -GARD:20039 Isolated congenital nasal pyriform aperture stenosis -GARD:9761 Isolated congenital onychodysplasia -GARD:21210 Isolated congenital radial head dislocation -GARD:16800 Isolated congenital sclerocornea -GARD:19962 Isolated congenital syngnathia -GARD:20502 Isolated congenitally uncorrected transposition of the great arteries -GARD:21968 Isolated constitutional thrombocytopenia -GARD:18681 Isolated corpus callosum agenesis -GARD:16797 Isolated cryptophthalmia -GARD:48 Isolated cytochrome C oxidase deficiency -GARD:20674 Isolated delta-storage pool disease -GARD:21290 Isolated diffuse palmoplantar keratoderma -GARD:16899 Isolated distichiasis -GARD:19985 Isolated dystonia -GARD:12251 Isolated ectopia lentis -GARD:6333 Isolated encephalocele -GARD:19235 Isolated epispadias -GARD:22255 Isolated exencephaly -GARD:22434 Isolated female hypospadias -GARD:16671 Isolated focal cortical dysplasia -GARD:20983 Isolated focal cortical dysplasia type I -GARD:10190 Isolated focal cortical dysplasia type II -GARD:17270 Isolated focal cortical dysplasia type IIa -GARD:17271 Isolated focal cortical dysplasia type IIb -GARD:20984 Isolated focal cortical dysplasia type Ia -GARD:20985 Isolated focal cortical dysplasia type Ib -GARD:20986 Isolated focal cortical dysplasia type Ic -GARD:17781 Isolated focal non-epidermolytic palmoplantar keratoderma -GARD:21295 Isolated focal palmoplantar keratoderma -GARD:10128 Isolated follicle stimulating hormone deficiency -GARD:22127 Isolated foveal hypoplasia -GARD:17843 Isolated generalized anhidrosis with normal sweat glands -GARD:2807 Isolated glycerol kinase deficiency -GARD:7399 Isolated growth hormone deficiency type IA -GARD:3919 Isolated growth hormone deficiency type IB -GARD:1696 Isolated growth hormone deficiency type II -GARD:3921 Isolated growth hormone deficiency type III -GARD:18997 Isolated hair shaft abnormality -GARD:2630 Isolated hemihyperplasia -GARD:8583 Isolated hereditary congenital facial paralysis -GARD:20539 Isolated hereditary giant platelet disorder -GARD:17984 Isolated hyperchlorhidrosis -GARD:22136 Isolated inherited retinal disorder -GARD:22125 Isolated iridoschisis -GARD:18715 Isolated lissencephaly type 1 without known genetic defects -GARD:22097 Isolated macular dystrophy -GARD:20977 Isolated megalencephaly -GARD:22129 Isolated megalopapilla -GARD:22368 Isolated melanotic schwannoma -GARD:22339 Isolated mesenteric vein thrombosis -GARD:12085 Isolated microphthalmia-anophthalmia-coloboma -GARD:22126 Isolated microspherophakia -GARD:19000 Isolated nail anomaly -GARD:21983 Isolated neonatal sclerosing cholangitis -GARD:8419 Isolated optic nerve hypoplasia/aplasia -GARD:22039 Isolated optic neuritis -GARD:22377 Isolated optic neuritis with anti-MOG antibodies -GARD:22376 Isolated optic neuritis without anti-MOG antibodies -GARD:17027 Isolated osteopoikilosis -GARD:20766 Isolated oxidative phosphorylation complex disorder -GARD:20992 Isolated partial cerebellar vermis agenesis -GARD:19347 Isolated partial vaginal agenesis -GARD:10457 Isolated permanent neonatal diabetes mellitus -GARD:9457 Isolated polycystic liver disease -GARD:22099 Isolated progressive inherited retinal disorder -GARD:20924 Isolated pulmonary capillaritis -GARD:18768 Isolated punctate palmoplantar keratoderma -GARD:4721 Isolated right ventricular hypoplasia -GARD:18652 Isolated sedoheptulokinase deficiency -GARD:7673 Isolated spina bifida -GARD:22338 Isolated splenic vein thrombosis -GARD:21903 Isolated splenogonadal fusion -GARD:6319 Isolated split hand-split foot malformation -GARD:22105 Isolated stationary inherited retinal disorder -GARD:20144 Isolated sternocostoclavicular hyperostosis -GARD:5053 Isolated succinate-CoQ reductase deficiency -GARD:5062 Isolated sulfite oxidase deficiency -GARD:10129 Isolated thyroid-stimulating hormone deficiency -GARD:17179 Isolated thyrotropin-releasing hormone deficiency -GARD:20991 Isolated total cerebellar vermis agenesis -GARD:21895 Isolated tracheoesophageal fistula -GARD:20995 Isolated unilateral hemispheric cerebellar hypoplasia -GARD:22098 Isolated vitreoretinopathy -GARD:3033 Isosporiasis -GARD:18765 Isotretinoin syndrome -GARD:9675 Isotretinoin-like syndrome -GARD:465 Isovaleric acidemia -GARD:6796 Jackson-Weiss syndrome -GARD:307 Jacobsen syndrome -GARD:1463 Jalili syndrome -GARD:6797 Japanese encephalitis -GARD:17410 Jawad syndrome -GARD:19916 Jeavons syndrome -GARD:19752 Jejunal neuroendocrine tumor -GARD:3048 Jervell and Lange-Nielsen syndrome -GARD:10364 Jervell and lange-nielsen syndrome 2 -GARD:6940 Jessner lymphocytic infiltration of the skin -GARD:3049 Jeune syndrome -GARD:80 Johanson-Blizzard syndrome -GARD:378 Johnson neuroectodermal syndrome -GARD:21183 Joint formation defects -GARD:6802 Joubert syndrome -GARD:15265 Joubert syndrome 10 -GARD:15765 Joubert syndrome 13 -GARD:15801 Joubert syndrome 14 -GARD:15806 Joubert syndrome 15 -GARD:15807 Joubert syndrome 16 -GARD:15824 Joubert syndrome 17 -GARD:15843 Joubert syndrome 18 -GARD:10167 Joubert syndrome 2 -GARD:15887 Joubert syndrome 20 -GARD:15997 Joubert syndrome 21 -GARD:15999 Joubert syndrome 22 -GARD:16124 Joubert syndrome 23 -GARD:16150 Joubert syndrome 24 -GARD:16159 Joubert syndrome 25 -GARD:16160 Joubert syndrome 26 -GARD:16194 Joubert syndrome 27 -GARD:16195 Joubert syndrome 28 -GARD:15435 Joubert syndrome 3 -GARD:16243 Joubert syndrome 30 -GARD:16251 Joubert syndrome 31 -GARD:16297 Joubert syndrome 35 -GARD:16376 Joubert syndrome 36 -GARD:16434 Joubert syndrome 37 -GARD:15465 Joubert syndrome 4 -GARD:15475 Joubert syndrome 5 -GARD:15494 Joubert syndrome 6 -GARD:15519 Joubert syndrome 7 -GARD:15550 Joubert syndrome 8 -GARD:15549 Joubert syndrome 9 -GARD:19931 Joubert syndrome and related disorders -GARD:17637 Joubert syndrome with Jeune asphyxiating thoracic dystrophy -GARD:1410 Joubert syndrome with hepatic defect -GARD:10168 Joubert syndrome with ocular defect -GARD:9455 Joubert syndrome with oculorenal defect -GARD:10169 Joubert syndrome with renal defect -GARD:3060 Juberg-Hayward syndrome -GARD:2152 Junctional epidermolysis bullosa -GARD:2143 Junctional epidermolysis bullosa inversa -GARD:9694 Junctional epidermolysis bullosa with pyloric atresia -GARD:3062 Jung syndrome -GARD:10510 Juvenile Huntington disease -GARD:2831 Juvenile Paget disease -GARD:2162 Juvenile absence epilepsy -GARD:11901 Juvenile amyotrophic lateral sclerosis -GARD:16382 Juvenile arthritis -GARD:17196 Juvenile cataract-microcornea-renal glucosuria syndrome -GARD:6805 Juvenile dermatomyositis -GARD:16883 Juvenile glaucoma -GARD:16583 Juvenile hyaline fibromatosis -GARD:18677 Juvenile idiopathic arthritis -GARD:21496 Juvenile idiopathic inflammatory myopathy -GARD:21624 Juvenile myasthenia gravis -GARD:9884 Juvenile myelomonocytic leukemia -GARD:6808 Juvenile myoclonic epilepsy -GARD:21144 Juvenile nasopharyngeal angiofibroma -GARD:18645 Juvenile nephronophthisis -GARD:17685 Juvenile nephropathic cystinosis -GARD:4938 Juvenile neuronal ceroid lipofuscinosis -GARD:16980 Juvenile or adult CACH syndrome -GARD:21497 Juvenile overlap myositis -GARD:12742 Juvenile polymyositis -GARD:16696 Juvenile polyposis of infancy -GARD:3065 Juvenile polyposis syndrome -GARD:4485 Juvenile primary lateral sclerosis -GARD:19183 Juvenile sialidosis type 2 -GARD:3068 Juvenile temporal arteritis -GARD:20020 Juvenile xanthogranuloma -GARD:22363 Juvenile-onset Steinert myotonic dystrophy -GARD:17768 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome -GARD:19648 Juxtaposition of the atrial appendages -GARD:22399 KAT6B-related multiple congenital anomalies syndrome -GARD:82 KBG syndrome -GARD:13060 KCNQ2-related epileptic encephalopathy -GARD:16744 KDM5C-related syndromic X-linked intellectual disability -GARD:18022 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome -GARD:3113 KID syndrome -GARD:22436 KLHL7-related Bohring-Opitz-like syndrome -GARD:22435 KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome -GARD:22437 KLHL7-related cold-induced sweating-like syndrome -GARD:22438 KLHL7-related disorder -GARD:21655 KLHL9-related early-onset distal myopathy -GARD:5186 KRT1-related diffuse nonepidermolytic keratoderma -GARD:6810 Kabuki syndrome -GARD:15270 Kabuki syndrome 2 -GARD:17219 Kagami-Ogata syndrome -GARD:17223 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation -GARD:17221 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion -GARD:5409 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 -GARD:10771 Kallmann syndrome -GARD:18767 Kallmann syndrome-heart disease syndrome -GARD:16900 Kandori fleck retina -GARD:6814 Kaposi sarcoma -GARD:15080 Kaposi sarcoma, susceptibility to -GARD:3077 Kaposiform hemangioendothelioma -GARD:13451 Kaposiform lymphangiomatosis -GARD:3078 Kapur-Toriello syndrome -GARD:4967 Karsch-Neugebauer syndrome -GARD:11003 Karyomegalic interstitial nephritis -GARD:70 Kasabach-Merritt syndrome -GARD:6816 Kawasaki disease -GARD:18537 Kaya-barakat-masson syndrome -GARD:6817 Kearns-Sayre syndrome -GARD:267 Keipert syndrome -GARD:6818 Kennedy disease -GARD:16594 Kenny-Caffey syndrome -GARD:17716 Keppen-Lubinsky syndrome -GARD:21107 Keratinopathic ichthyosis -GARD:2946 Keratitis-ichthyosis-deafness syndrome, autosomal recessive -GARD:21870 Keratocystic odontogenic tumor -GARD:3092 Keratoderma hereditarium mutilans -GARD:16719 Keratoderma hereditarium mutilans with ichthyosis -GARD:8275 Keratolytic winter erythema -GARD:6829 Keratosis follicularis spinulosa decalvans -GARD:15586 Keratosis follicularis spinulosa decalvans, autosomal dominant -GARD:15299 Keratosis follicularis spinulosa decalvans, x-linked -GARD:3099 Keratosis follicularis-dwarfism-cerebral atrophy syndrome -GARD:17306 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome -GARD:16766 Keratosis palmaris et plantaris-clinodactyly syndrome -GARD:15590 Keratosis palmoplantaris striata ii -GARD:9173 Keratosis palmoplantaris striata iii -GARD:18694 Keratosis pilaris atrophicans -GARD:3109 Kerion celsi -GARD:21169 Ketamine-induced biliary dilatation -GARD:17733 Ketoacidosis due to monocarboxylate transporter-1 deficiency -GARD:8449 Keutel syndrome -GARD:18920 Kidney tubulopathy-dilated cardiomyopathy syndrome -GARD:9690 Kienbock disease -GARD:6834 Kikuchi-Fujimoto disease -GARD:6835 Kimura disease -GARD:4391 Kindler epidermolysis bullosa -GARD:8433 King-Denborough syndrome -GARD:10175 Klatskin tumor -GARD:8672 Kleefstra syndrome -GARD:18382 Kleefstra syndrome 2 -GARD:16846 Kleefstra syndrome due to 9q34 microdeletion -GARD:17253 Kleefstra syndrome due to a point mutation -GARD:3117 Kleine-Levin syndrome -GARD:17778 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome -GARD:16788 Klippel-Trénaunay syndrome -GARD:15049 Klippel-feil syndrome 1, autosomal dominant -GARD:15151 Klippel-feil syndrome 2, autosomal recessive -GARD:15691 Klippel-feil syndrome 3, autosomal dominant -GARD:6840 Klüver-Bucy syndrome -GARD:6841 Kniest dysplasia -GARD:380 Knobloch syndrome -GARD:3125 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome -GARD:19637 Kommerell diverticulum -GARD:10727 Koolen-De Vries syndrome -GARD:21559 Koolen-De Vries syndrome due to a point mutation -GARD:17860 Kosaki overgrowth syndrome -GARD:302 Kostmann syndrome -GARD:4752 Kousseff syndrome -GARD:6844 Krabbe disease -GARD:9174 Kufor-Rakeb syndrome -GARD:7617 Kuru -GARD:15191 Kuru, susceptibility to -GARD:3150 Kuskokwim syndrome -GARD:8257 Kyasanur forest disease -GARD:10149 Kyphomelic dysplasia -GARD:22012 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome -GARD:2083 Kyphoscoliotic Ehlers-Danlos syndrome -GARD:17361 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency -GARD:22216 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency -GARD:17912 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome -GARD:10472 L-2-hydroxyglutaric aciduria -GARD:10323 L-Arginine:glycine amidinotransferase deficiency -GARD:17748 L-ferritin deficiency -GARD:12524 L1 syndrome -GARD:22146 LAMA5-related multisystemic syndrome -GARD:16539 LCAT deficiency -GARD:15000 LIG4 syndrome -GARD:17834 LIMS2-related limb-girdle muscular dystrophy -GARD:13126 LIPE-related familial partial lipodystrophy -GARD:21555 LMNA-related cardiocutaneous progeria syndrome -GARD:22031 LRP5-related primary osteoporosis -GARD:19045 LUMBAR syndrome -GARD:10925 La Crosse encephalitis -GARD:19511 Lacrimal drainage system anomaly -GARD:22164 Lacrimal drainage system anomaly of genetic origin -GARD:6848 Lacrimoauriculodentodigital syndrome -GARD:8214 Lafora disease -GARD:10769 Laing early-onset distal myopathy -GARD:22211 Lamb-Shaffer syndrome -GARD:3169 Lambert syndrome -GARD:6851 Lambert-Eaton myasthenic syndrome -GARD:10803 Lamellar ichthyosis -GARD:3843 Laminin subunit alpha 2-related congenital muscular dystrophy -GARD:22270 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 -GARD:20396 Laminin subunit alpha 2-related muscular dystrophy -GARD:19444 Laminopathy -GARD:21242 Laminopathy with lipodystrophy -GARD:21241 Laminopathy with peripheral neuropathy -GARD:21243 Laminopathy with premature aging -GARD:21240 Laminopathy with striated muscle involvement -GARD:6855 Landau-Kleffner syndrome -GARD:3553 Langer mesomelic dysplasia -GARD:6858 Langerhans cell histiocytosis -GARD:10491 Langerhans cell sarcoma -GARD:2469 Large congenital melanocytic nevus -GARD:22073 Large granular lymphocyte leukemia -GARD:6859 Laron syndrome -GARD:17133 Laron syndrome with immunodeficiency -GARD:6860 Larsen syndrome -GARD:16595 Larsen-like osseous dysplasia-short stature syndrome -GARD:17308 Larsen-like syndrome, B3GAT3 type -GARD:5509 Laryngeal abductor paralysis -GARD:16597 Laryngeal abductor paralysis-intellectual disability syndrome -GARD:19758 Laryngeal neuroendocrine tumor -GARD:368 Laryngo-onycho-cutaneous syndrome -GARD:3191 Laryngocele -GARD:19893 Laryngotracheal angioma -GARD:3188 Laryngotracheoesophageal cleft -GARD:21072 Laryngotracheoesophageal cleft type 0 -GARD:19236 Laryngotracheoesophageal cleft type 1 -GARD:19237 Laryngotracheoesophageal cleft type 2 -GARD:16833 Laryngotracheoesophageal cleft type 3 -GARD:19238 Laryngotracheoesophageal cleft type 4 -GARD:20001 Larynx anomaly -GARD:3194 Larynx atresia -GARD:19688 Lassa fever -GARD:16979 Late infantile CACH syndrome -GARD:17032 Late infantile neuronal ceroid lipofuscinosis -GARD:20344 Late-infantile/juvenile Krabbe disease -GARD:22365 Late-onset Steinert myotonic dystrophy -GARD:19488 Late-onset ataxia with dementia -GARD:1886 Late-onset distal myopathy, Markesbery-Griggs type -GARD:22244 Late-onset familial hypoaldosteronism -GARD:20578 Late-onset focal dermal elastosis -GARD:20331 Late-onset isolated ACTH deficiency -GARD:12921 Late-onset junctional epidermolysis bullosa -GARD:299 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome -GARD:16824 Late-onset nephronophthisis -GARD:21153 Late-onset primary lymphedema without systemic or visceral involvement -GARD:4357 Late-onset retinal degeneration -GARD:21796 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies -GARD:19970 Lateral facial cleft -GARD:9873 Lateral meningocele syndrome -GARD:9711 Lathosterolosis -GARD:9678 Lattice corneal dystrophy type I -GARD:19646 Laubry-Pezzi syndrome -GARD:12635 Laurence-Moon syndrome -GARD:155 Laurin-Sandrow syndrome -GARD:21503 Lead poisoning -GARD:634 Leber congenital amaurosis -GARD:635 Leber congenital amaurosis 1 -GARD:10487 Leber congenital amaurosis 10 -GARD:10488 Leber congenital amaurosis 11 -GARD:10489 Leber congenital amaurosis 12 -GARD:10882 Leber congenital amaurosis 13 -GARD:10883 Leber congenital amaurosis 14 -GARD:10884 Leber congenital amaurosis 15 -GARD:10885 Leber congenital amaurosis 16 -GARD:15950 Leber congenital amaurosis 17 -GARD:16359 Leber congenital amaurosis 19 -GARD:636 Leber congenital amaurosis 2 -GARD:9661 Leber congenital amaurosis 3 -GARD:9662 Leber congenital amaurosis 4 -GARD:9983 Leber congenital amaurosis 5 -GARD:10490 Leber congenital amaurosis 6 -GARD:10880 Leber congenital amaurosis 7 -GARD:10881 Leber congenital amaurosis 8 -GARD:9491 Leber congenital amaurosis 9 -GARD:6870 Leber hereditary optic neuropathy -GARD:15300 Leber hereditary optic neuropathy, modifier of -GARD:15311 Leber optic atrophy and dystonia -GARD:8476 Leber plus disease -GARD:6873 Ledderhose disease -GARD:22282 Left sided atrial isomerism -GARD:10985 Left ventricular noncompaction -GARD:15956 Left ventricular noncompaction 10 -GARD:15460 Left ventricular noncompaction 2 -GARD:15906 Left ventricular noncompaction 7 -GARD:15952 Left ventricular noncompaction 8 -GARD:6874 Legg-Calvé-Perthes disease -GARD:22419 Legionellosis -GARD:6876 Legionnaires disease -GARD:10714 Legius syndrome -GARD:6877 Leigh syndrome -GARD:16685 Leigh syndrome with cardiomyopathy -GARD:17238 Leigh syndrome with leukodystrophy -GARD:17239 Leigh syndrome with nephrotic syndrome -GARD:10097 Leiomyoma of vulva and esophagus -GARD:6880 Leiomyosarcoma -GARD:19852 Leiomyosarcoma of small intestine -GARD:20495 Leiomyosarcoma of the cervix uteri -GARD:20477 Leiomyosarcoma of the corpus uteri -GARD:6881 Leishmaniasis -GARD:10367 Lelis syndrome -GARD:6882 Lemierre syndrome -GARD:9912 Lennox-Gastaut syndrome -GARD:19535 Lens position anomaly -GARD:22172 Lens position anomaly of genetic origin -GARD:19536 Lens shape anomaly -GARD:19534 Lens size anomaly -GARD:22171 Lens size anomaly of genetic origin -GARD:3223 Lenz-Majewski hyperostotic dwarfism -GARD:15518 Leopard syndrome 2 -GARD:15694 Leopard syndrome 3 -GARD:6885 Leprechaunism -GARD:6886 Leprosy -GARD:15415 Leprosy, susceptibility to, 2 -GARD:15192 Leprosy, susceptibility to, 3 -GARD:15504 Leprosy, susceptibility to, 4 -GARD:15632 Leprosy, susceptibility to, 5 -GARD:15659 Leprosy, susceptibility to, 6 -GARD:20973 Leptomyelolipoma -GARD:7881 Leptospirosis -GARD:88 Leri pleonosteosis -GARD:7226 Lesch-Nyhan syndrome -GARD:18538 Lessel-kreienkamp syndrome -GARD:3124 Lethal Kniest-like dysplasia -GARD:3181 Lethal Larsen-like syndrome -GARD:9910 Lethal acantholytic erosive disorder -GARD:17432 Lethal arteriopathy syndrome due to fibulin-4 deficiency -GARD:8756 Lethal ataxia with deafness and optic atrophy -GARD:22332 Lethal brain and heart developmental defects -GARD:19215 Lethal chondrodysplasia -GARD:12643 Lethal congenital contracture syndrome -GARD:12645 Lethal congenital contracture syndrome 4 -GARD:18564 Lethal congenital contracture syndrome 7 -GARD:18565 Lethal congenital contracture syndrome 8 -GARD:3227 Lethal congenital contracture syndrome type 1 -GARD:9177 Lethal congenital contracture syndrome type 2 -GARD:12644 Lethal congenital contracture syndrome type 3 -GARD:2229 Lethal faciocardiomelic dysplasia -GARD:18654 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome -GARD:17743 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome -GARD:2642 Lethal hemolytic anemia-genital anomalies syndrome -GARD:21978 Lethal hydranencephaly-diaphragmatic hernia syndrome -GARD:17226 Lethal infantile mitochondrial myopathy -GARD:3788 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome -GARD:17865 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome -GARD:21925 Lethal multiple congenital anomalies/dysmorphic syndrome -GARD:3834 Lethal multiple pterygium syndrome -GARD:17718 Lethal neonatal spasticity-epileptic encephalopathy syndrome -GARD:17348 Lethal occipital encephalocele-skeletal dysplasia syndrome -GARD:4079 Lethal omphalocele-cleft palate syndrome -GARD:282 Lethal osteosclerotic bone dysplasia -GARD:17110 Lethal polymalformative syndrome, Boissel type -GARD:18034 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome -GARD:18036 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation -GARD:18037 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster -GARD:3399 Lethal recessive chondrodysplasia -GARD:22199 Letrozole toxicity -GARD:15467 Leukemia, chronic lymphocytic, susceptibility to, 1 -GARD:15042 Leukemia, chronic lymphocytic, susceptibility to, 2 -GARD:15565 Leukemia, chronic lymphocytic, susceptibility to, 3 -GARD:15566 Leukemia, chronic lymphocytic, susceptibility to, 4 -GARD:15567 Leukemia, chronic lymphocytic, susceptibility to, 5 -GARD:16616 Leukocyte adhesion deficiency -GARD:6893 Leukocyte adhesion deficiency type I -GARD:4634 Leukocyte adhesion deficiency type II -GARD:16915 Leukocyte adhesion deficiency type III -GARD:6895 Leukodystrophy -GARD:18088 Leukodystrophy, hypomyelinating, 11 -GARD:16266 Leukodystrophy, hypomyelinating, 14 -GARD:15557 Leukodystrophy, hypomyelinating, 6 -GARD:18087 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism -GARD:18624 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism -GARD:19917 Leukoencephalopathy with bilateral anterior temporal lobe cysts -GARD:12652 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome -GARD:10732 Leukoencephalopathy with calcifications and cysts -GARD:17565 Leukoencephalopathy with mild cerebellar ataxia and white matter edema -GARD:18252 Leukoencephalopathy, progressive, with ovarian failure -GARD:12471 Leukoencephalopathy-dystonia-motor neuropathy syndrome -GARD:3232 Leukoencephalopathy-palmoplantar keratoderma syndrome -GARD:4891 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome -GARD:12893 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome -GARD:2044 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome -GARD:9759 Leukonychia totalis -GARD:20448 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome -GARD:12032 Levocardia -GARD:13070 Lewis-Sumner syndrome -GARD:3244 Leydig cell hypoplasia -GARD:10127 Leydig cell hypoplasia due to LHB deficiency -GARD:16851 Leydig cell hypoplasia due to complete LH resistance -GARD:16852 Leydig cell hypoplasia due to partial LH resistance -GARD:6901 Lhermitte-Duclos disease -GARD:6902 Li-Fraumeni syndrome -GARD:16263 Li-fraumeni syndrome 2 -GARD:18526 Li-ghorbani-weisz-hubshman syndrome -GARD:18839 Lichen amyloidosis -GARD:21709 Lichen myxedematosus -GARD:3247 Lichen planopilaris -GARD:12677 Lichen planus pemphigoides -GARD:10816 Lichen planus pigmentosus -GARD:3248 Lichtenstein syndrome -GARD:7381 Liddle syndrome -GARD:19223 Light and heavy chain deposition disease -GARD:6906 Light chain deposition disease -GARD:3251 Limb body wall complex -GARD:6907 Limb-girdle muscular dystrophy -GARD:17769 Limb-girdle muscular dystrophy due to POMK deficiency -GARD:10051 Limb-mammary syndrome -GARD:20123 Limbal stem cell deficiency -GARD:1053 Limited cutaneous systemic sclerosis -GARD:9749 Limited systemic sclerosis -GARD:18834 Linear IgA dermatosis -GARD:11004 Linear and whorled nevoid hypermelanosis -GARD:19932 Linear atrophoderma of Moulin -GARD:20579 Linear focal elastosis -GARD:22358 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies -GARD:11898 Linear lichen planus -GARD:10291 Linear nevus sebaceus syndrome -GARD:15272 Linear skin defects with multiple congenital anomalies 2 -GARD:15276 Linear skin defects with multiple congenital anomalies 3 -GARD:3259 Linear verrucous nevus syndrome -GARD:12511 Lipid storage disease -GARD:12015 Lipoblastoma -GARD:12604 Lipodystrophy due to peptidic growth factors deficiency -GARD:84 Lipodystrophy, congenital generalized, type 1 -GARD:10212 Lipodystrophy, congenital generalized, type 2 -GARD:13389 Lipodystrophy, congenital generalized, type 3 -GARD:10937 Lipodystrophy, congenital generalized, type 4 -GARD:18038 Lipodystrophy, familial partial, type 7 -GARD:16646 Lipodystrophy-intellectual disability-deafness syndrome -GARD:12679 Lipoic acid biosynthesis defect -GARD:12678 Lipoic acid synthetase deficiency -GARD:3268 Lipoid proteinosis -GARD:20972 Lipoma associated with neurospinal dysraphism -GARD:10053 Lipomyelomeningocele -GARD:17504 Lipoprotein glomerulopathy -GARD:6913 Liposarcoma -GARD:12680 Lipoyl transferase 1 deficiency -GARD:21872 Lipoyl transferase 2 deficiency -GARD:16877 Lisch epithelial corneal dystrophy -GARD:12291 Lissencephaly -GARD:16838 Lissencephaly due to LIS1 mutation -GARD:17066 Lissencephaly due to TUBA1A mutation -GARD:16780 Lissencephaly syndrome, Norman-Roberts type -GARD:6914 Lissencephaly type 1 due to doublecortin gene mutation -GARD:19821 Lissencephaly type 3 -GARD:19067 Lissencephaly type 3-familial fetal akinesia sequence syndrome -GARD:16763 Lissencephaly type 3-metacarpal bone dysplasia syndrome -GARD:19068 Lissencephaly with cerebellar hypoplasia -GARD:19731 Lissencephaly with cerebellar hypoplasia type A -GARD:19732 Lissencephaly with cerebellar hypoplasia type B -GARD:19733 Lissencephaly with cerebellar hypoplasia type C -GARD:19734 Lissencephaly with cerebellar hypoplasia type D -GARD:19735 Lissencephaly with cerebellar hypoplasia type E -GARD:19736 Lissencephaly with cerebellar hypoplasia type F -GARD:6915 Listeriosis -GARD:12784 Livedoid vasculopathy -GARD:22278 Liver adenomatosis -GARD:16830 Lobar holoprosencephaly -GARD:22388 Localized dystrophic epidermolysis bullosa -GARD:20031 Localized dystrophic epidermolysis bullosa, acral form -GARD:20032 Localized dystrophic epidermolysis bullosa, nails only -GARD:2155 Localized dystrophic epidermolysis bullosa, pretibial form -GARD:2146 Localized epidermolysis bullosa simplex -GARD:12923 Localized junctional epidermolysis bullosa -GARD:7321 Localized lichen myxedematosus -GARD:19142 Localized lichen myxedematosus with mixed features of different subtypes -GARD:19143 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms -GARD:5867 Localized lipodystrophy -GARD:20155 Localized pagetoid reticulosis -GARD:7058 Localized scleroderma -GARD:6919 Locked-in syndrome -GARD:18929 Loeffler endocarditis -GARD:10788 Loeys-Dietz syndrome -GARD:9458 Loeys-dietz syndrome 1 -GARD:10586 Loeys-dietz syndrome 2 -GARD:10588 Loeys-dietz syndrome 4 -GARD:12356 Loeys-dietz syndrome 5 -GARD:10791 Logopenic progressive aphasia -GARD:3283 Loiasis -GARD:6867 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency -GARD:10436 Long qt syndrome 10 -GARD:10437 Long qt syndrome 11 -GARD:15595 Long qt syndrome 12 -GARD:15666 Long qt syndrome 13 -GARD:16073 Long qt syndrome 14 -GARD:16074 Long qt syndrome 15 -GARD:3285 Long qt syndrome 2 -GARD:3286 Long qt syndrome 3 -GARD:10433 Long qt syndrome 5 -GARD:10434 Long qt syndrome 6 -GARD:10435 Long qt syndrome 9 -GARD:22024 Longitudinal limb defect -GARD:20190 Longitudinal vaginal septum -GARD:3287 Loose anagen syndrome -GARD:16683 Low phospholipid-associated cholelithiasis -GARD:19933 Low-flow priapism -GARD:20706 Low-grade astrocytoma -GARD:20483 Low-grade neuroendocrine tumor of the corpus uteri -GARD:1695 Lowe-Kohn-Cohen syndrome -GARD:21213 Lower limb hypertrophy -GARD:18773 Lower limb malformation-hypospadias syndrome -GARD:19940 Lower lip fistula -GARD:17282 Lower motor neuron syndrome with late-adult onset -GARD:16550 Lown-Ganong-Levine syndrome -GARD:3300 Lowry-MacLean syndrome -GARD:264 Lowry-Wood syndrome -GARD:3307 Lujan-Fryns syndrome -GARD:21410 Lujo hemorrhagic fever -GARD:20954 Lumbosacral spina bifida aperta -GARD:20961 Lumbosacral spina bifida cystica -GARD:3378 Lung agenesis-heart defect-thumb anomalies syndrome -GARD:16947 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome -GARD:19133 Lupus erythematosus panniculitis -GARD:13003 Lupus erythematosus tumidus -GARD:13789 Luscan-Lumish syndrome -GARD:19170 Lyme disease -GARD:3319 Lymphangioleiomyomatosis -GARD:3321 Lymphatic filariasis -GARD:3328 Lymphatic malformation 1 -GARD:16453 Lymphatic malformation 2 -GARD:16456 Lymphatic malformation 3 -GARD:16468 Lymphatic malformation 4 -GARD:284 Lymphedema-atrial septal defects-facial changes syndrome -GARD:9217 Lymphedema-cerebral arteriovenous anomaly syndrome -GARD:333 Lymphedema-distichiasis syndrome -GARD:16898 Lymphedema-posterior choanal atresia syndrome -GARD:21397 Lymphocytic hypereosinophilic syndrome -GARD:21151 Lymphoepithelial-like carcinoma -GARD:20131 Lymphoid hemopathy -GARD:16700 Lymphoid interstitial pneumonia -GARD:15194 Lymphokine deficiency -GARD:20548 Lymphoma -GARD:6943 Lymphomatoid granulomatosis -GARD:6944 Lymphomatoid papulosis -GARD:22240 Lymphoplasmacytic inflammatory pseudotumor of the liver -GARD:21851 Lymphoplasmacytic lymphoma without IgM production -GARD:16855 Lymphoproliferative disease associated with primary immune disease -GARD:20633 Lymphoproliferative syndrome -GARD:9905 Lynch syndrome -GARD:15052 Lynch syndrome i -GARD:3335 Lysinuric protein intolerance -GARD:12097 Lysosomal acid lipase deficiency -GARD:16636 Lysosomal acid phosphatase deficiency -GARD:18884 Lysosomal disease -GARD:20550 Lysosomal disease with epilepsy -GARD:20520 Lysosomal disease with hypertrophic cardiomyopathy -GARD:20533 Lysosomal disease with restrictive cardiomyopathy -GARD:21333 Lysosomal glycogen storage disease -GARD:19203 Lysosomal storage disease with skeletal involvement -GARD:3224 Léri-Weill dyschondrosteosis -GARD:13316 MAGEL2-related Prader-Willi-like syndrome -GARD:13371 MAGIC syndrome -GARD:6485 MALT lymphoma -GARD:12417 MAN1B1-CDG -GARD:6986 MASA syndrome -GARD:17072 MEDNIK syndrome -GARD:12963 MEGDEL syndrome -GARD:9178 MEHMO syndrome -GARD:7009 MELAS -GARD:17666 MEND syndrome -GARD:13488 MEPAN syndrome -GARD:7144 MERRF -GARD:17881 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect -GARD:9828 MGAT2-CDG -GARD:22495 MIR140-related spondyloepiphyseal dysplasia -GARD:13108 MIRAGE syndrome -GARD:17343 MITF-related melanoma and renal cell carcinoma predisposition syndrome -GARD:17916 MME-related autosomal dominant Charcot Marie Tooth disease type 2 -GARD:3693 MMEP syndrome -GARD:3697 MODY -GARD:10767 MOGS-CDG -GARD:178 MOMO syndrome -GARD:10121 MORM syndrome -GARD:9832 MPDU1-CDG -GARD:9830 MPI-CDG -GARD:17255 MRCS syndrome -GARD:17868 MSH3-related attenuated familial adenomatous polyposis -GARD:21433 MT-ATP6-related mitochondrial spastic paraplegia -GARD:18018 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome -GARD:7002 MUC1-related autosomal dominant tubulointerstitial kidney disease -GARD:10805 MUTYH-related attenuated familial adenomatous polyposis -GARD:22035 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome -GARD:10313 MYH7-related late-onset scapuloperoneal muscular dystrophy -GARD:180 MYH9-related disease -GARD:21972 MYO5B-related progressive familial intrahepatic cholestasis -GARD:21048 Machado-Joseph disease type 1 -GARD:21049 Machado-Joseph disease type 2 -GARD:21050 Machado-Joseph disease type 3 -GARD:17630 Macrocephaly-developmental delay syndrome -GARD:17112 Macrocephaly-intellectual disability-autism syndrome -GARD:17832 Macrocephaly-intellectual disability-left ventricular non compaction syndrome -GARD:13636 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome -GARD:172 Macrocephaly-short stature-paraplegia syndrome -GARD:16598 Macrocephaly-spastic paraplegia-dysmorphism syndrome -GARD:6010 Macrocystic lymphatic malformation -GARD:8529 Macrodactyly of fingers -GARD:21228 Macrodactyly of fingers, bilateral -GARD:21227 Macrodactyly of fingers, unilateral -GARD:6951 Macrodactyly of toes -GARD:21230 Macrodactyly of toes, bilateral -GARD:21229 Macrodactyly of toes, unilateral -GARD:15486 Macroglobulinemia, waldenstrom, susceptibility to, 2 -GARD:3342 Macroglossia -GARD:12124 Macrophage activation syndrome -GARD:19442 Macrophage or histiocytic tumor -GARD:176 Macrophagic myofasciitis -GARD:177 Macrosomia-microphthalmia-cleft palate syndrome -GARD:19044 Macrostomia-preauricular tags-external ophthalmoplegia syndrome -GARD:20538 Macrothrombocytopenia with mitral valve insufficiency -GARD:18271 Macrothrombocytopenia, isolated, 1, autosomal dominant -GARD:17884 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome -GARD:19885 Macular amyloidosis -GARD:16802 Macular coloboma-cleft palate-hallux valgus syndrome -GARD:6953 Macular corneal dystrophy -GARD:15268 Macular degeneration, x-linked atrophic -GARD:18237 Macular dystrophy, patterned, 1 -GARD:18238 Macular dystrophy, patterned, 2 -GARD:10120 Macular dystrophy, vitelliform, 1 -GARD:16064 Macular dystrophy, vitelliform, 4 -GARD:16065 Macular dystrophy, vitelliform, 5 -GARD:16723 Maculopapular cutaneous mastocytosis -GARD:19887 Madras motor neuron disease -GARD:6958 Maffucci syndrome -GARD:10088 Majeed syndrome -GARD:92 Mal de Meleda -GARD:6959 Mal de débarquement -GARD:6960 Malakoplakia -GARD:13811 Malan overgrowth syndrome -GARD:6961 Malaria -GARD:4899 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome -GARD:17971 Male infertility due to acephalic spermatozoa -GARD:12502 Male infertility due to globozoospermia -GARD:19445 Male infertility due to gonadal dysgenesis -GARD:21673 Male infertility due to gonadal dysgenesis or sperm disorder -GARD:12385 Male infertility due to large-headed multiflagellar polyploid spermatozoa -GARD:19446 Male infertility due to obstructive azoospermia -GARD:21688 Male infertility due to obstructive azoospermia of genetic origin -GARD:21674 Male infertility due to sperm disorder -GARD:21676 Male infertility due to sperm motility disorder -GARD:8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation -GARD:21675 Male infertility with spermatogenesis disorder -GARD:12513 Male infertility with spermatogenesis disorder due to single gene mutation -GARD:17654 Male infertility with teratozoospermia due to single gene mutation -GARD:19481 Malformation of the cerebellar hemispheres -GARD:19480 Malformation of the cerebellar vermis -GARD:20974 Malformation of the neurenteric canal, spinal cord and column -GARD:19431 Malformation syndrome with hamartosis -GARD:19909 Malformation syndrome with odontal and/or periodontal component -GARD:19902 Malformation syndrome with short stature -GARD:20209 Malformative syndrome with dentinogenesis imperfecta -GARD:19707 Maligant granulosa cell tumor of the ovary -GARD:21138 Malignancy diagnosed during pregnancy -GARD:5495 Malignant Sertoli-Leydig cell tumor of the ovary -GARD:6249 Malignant atrophic papulosis -GARD:19705 Malignant dysgerminomatous germ cell tumor of the ovary -GARD:9362 Malignant epithelial tumor of ovary -GARD:21043 Malignant epithelial tumor of salivary glands -GARD:9330 Malignant germ cell tumor of ovary -GARD:20501 Malignant germ cell tumor of the cervix uteri -GARD:20485 Malignant germ cell tumor of the corpus uteri -GARD:20347 Malignant germ cell tumor of the vagina -GARD:6964 Malignant hyperthermia of anesthesia -GARD:3363 Malignant hyperthermia, susceptibility to, 1 -GARD:3364 Malignant hyperthermia, susceptibility to, 2 -GARD:3365 Malignant hyperthermia, susceptibility to, 3 -GARD:3366 Malignant hyperthermia, susceptibility to, 4 -GARD:3367 Malignant hyperthermia, susceptibility to, 5 -GARD:3368 Malignant hyperthermia, susceptibility to, 6 -GARD:20387 Malignant lymphoma with peripheral neuropathy -GARD:20110 Malignant melanoma of the mucosa -GARD:12919 Malignant migrating focal seizures of infancy -GARD:7296 Malignant mixed Müllerian tumor of the ovary -GARD:20490 Malignant mixed epithelial and mesenchymal tumor of cervix uteri -GARD:20472 Malignant mixed epithelial and mesenchymal tumor of corpus uteri -GARD:20349 Malignant non-dysgerminomatous germ cell tumor of ovary -GARD:21650 Malignant non-epithelial tumor of ovary -GARD:10872 Malignant peripheral nerve sheath tumor -GARD:20741 Malignant peripheral nerve sheath tumor with perineurial differentiation -GARD:20102 Malignant peritoneal mesothelioma -GARD:18816 Malignant sex cord stromal tumor of ovary -GARD:21654 Malignant teratoma of ovary -GARD:20743 Malignant triton tumor -GARD:20204 Malignant tumor of fallopian tubes -GARD:9366 Malignant tumor of penis -GARD:3371 Malonic aciduria -GARD:19645 Malposition of a coronary ostium -GARD:17180 Mammary-digital-nail syndrome -GARD:19957 Mandibular arteriovenous malformation -GARD:10989 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome -GARD:11893 Mandibuloacral dysplasia -GARD:3374 Mandibuloacral dysplasia with type A lipodystrophy -GARD:9989 Mandibuloacral dysplasia with type B lipodystrophy -GARD:19980 Mandibulofacial dysostosis -GARD:17758 Mandibulofacial dysostosis with alopecia -GARD:17547 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome -GARD:10056 Mandibulofacial dysostosis-microcephaly syndrome -GARD:21264 Manganese poisoning -GARD:8216 Mansonelliasis -GARD:6969 Mantle cell lymphoma -GARD:3228 Maple syrup urine disease -GARD:18388 Maple syrup urine disease, mild variant -GARD:20572 Marburg acute multiple sclerosis -GARD:9444 Marburg hemorrhagic fever -GARD:6971 Marchiafava-Bignami disease -GARD:6972 Marcus-Gunn syndrome -GARD:6973 Marden-Walker syndrome -GARD:16535 Marfan syndrome -GARD:21129 Marfan syndrome and Marfan-related disorders -GARD:6975 Marfan syndrome type 1 -GARD:17318 Marfan syndrome type 2 -GARD:3388 Marfanoid habitus-autosomal recessive intellectual disability syndrome -GARD:21368 Marfanoid habitus-inguinal hernia-advanced bone age syndrome -GARD:3401 Marfanoid syndrome, De Silva type -GARD:21298 Marginal papular palmoplantar keratoderma -GARD:13237 Marginal zone lymphoma -GARD:3390 Marie Unna hereditary hypotrichosis -GARD:19779 Marin-Amat syndrome -GARD:8341 Marinesco-Sjögren syndrome -GARD:6984 Marshall syndrome -GARD:6985 Marshall-Smith syndrome -GARD:17826 Martinique crinkled retinal pigment epitheliopathy -GARD:19598 Mast cell leukemia -GARD:18870 Mast cell sarcoma -GARD:6987 Mastocytosis -GARD:20702 Maternal disease-related embryofetopathy -GARD:2856 Maternal hyperthermia-induced birth defects -GARD:3413 Maternal phenylketonuria -GARD:17686 Maternal riboflavin deficiency -GARD:19424 Maternal uniparental disomy -GARD:20689 Maternal uniparental disomy of chromosome 1 -GARD:19382 Maternal uniparental disomy of chromosome 13 -GARD:19336 Maternal uniparental disomy of chromosome 16 -GARD:19331 Maternal uniparental disomy of chromosome 2 -GARD:16849 Maternal uniparental disomy of chromosome 20 -GARD:19337 Maternal uniparental disomy of chromosome 21 -GARD:19338 Maternal uniparental disomy of chromosome 22 -GARD:19332 Maternal uniparental disomy of chromosome 4 -GARD:19333 Maternal uniparental disomy of chromosome 6 -GARD:19335 Maternal uniparental disomy of chromosome 9 -GARD:20783 Maternal uniparental disomy of chromosome X -GARD:4003 Maternally-inherited diabetes and deafness -GARD:713 Matthew-Wood syndrome -GARD:15392 Maturity-onset diabetes of the young -GARD:3418 Maturity-onset diabetes of the young, type 1 -GARD:15652 Maturity-onset diabetes of the young, type 10 -GARD:15653 Maturity-onset diabetes of the young, type 11 -GARD:16090 Maturity-onset diabetes of the young, type 13 -GARD:16128 Maturity-onset diabetes of the young, type 14 -GARD:10657 Maturity-onset diabetes of the young, type 2 -GARD:10658 Maturity-onset diabetes of the young, type 3 -GARD:10659 Maturity-onset diabetes of the young, type 4 -GARD:10660 Maturity-onset diabetes of the young, type 6 -GARD:10661 Maturity-onset diabetes of the young, type 7 -GARD:10662 Maturity-onset diabetes of the young, type 8, with exocrine dysfunction -GARD:10663 Maturity-onset diabetes of the young, type 9 -GARD:19956 Maxillary arteriovenous malformation -GARD:6992 Maxillonasal dysplasia -GARD:5445 Mayer-Rokitansky-Küster-Hauser syndrome -GARD:4737 Mayer-Rokitansky-Küster-Hauser syndrome type 1 -GARD:5513 Mayer-Rokitansky-Küster-Hauser syndrome type 2 -GARD:18853 Mazabraud syndrome -GARD:6995 McCune-Albright syndrome -GARD:3424 McDonough syndrome -GARD:3427 McKusick-Kaufman syndrome -GARD:10731 McLeod neuroacanthocytosis syndrome -GARD:3432 Meacham syndrome -GARD:3436 Meckel syndrome -GARD:16236 Meckel syndrome 13 -GARD:15957 Meckel syndrome, type 11 -GARD:8743 Meckel syndrome, type 2 -GARD:8744 Meckel syndrome, type 3 -GARD:15509 Meckel syndrome, type 4 -GARD:15520 Meckel syndrome, type 5 -GARD:15548 Meckel syndrome, type 6 -GARD:15727 Meckel syndrome, type 8 -GARD:15773 Meckel syndrome, type 9 -GARD:10494 Meconium aspiration syndrome -GARD:10910 Medial condensing osteitis of the clavicle -GARD:18756 Median cleft lip/mandibule -GARD:19966 Median cleft of the upper lip and maxilla -GARD:19965 Median facial cleft -GARD:3440 Median nodule of the upper lip -GARD:21598 Medich giant platelet syndrome -GARD:540 Medium chain acyl-CoA dehydrogenase deficiency -GARD:19815 Medullar disease -GARD:232 Medullary sponge kidney -GARD:7004 Medullary thyroid carcinoma -GARD:7005 Medulloblastoma -GARD:17214 Medulloblastoma with extensive nodularity -GARD:20721 Medulloepithelioma of the central nervous system -GARD:9688 Meesmann corneal dystrophy -GARD:19355 Mega-cisterna magna -GARD:10317 Megaconial congenital muscular dystrophy -GARD:20638 Megacystis-megaureter syndrome -GARD:3442 Megacystis-microcolon-intestinal hypoperistalsis syndrome -GARD:15195 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 -GARD:16447 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 -GARD:21712 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) -GARD:3445 Megalencephalic leukoencephalopathy with subcortical cysts -GARD:15728 Megalencephalic leukoencephalopathy with subcortical cysts 2a -GARD:15729 Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation -GARD:16601 Megalencephaly -GARD:6950 Megalencephaly-capillary malformation-polymicrogyria syndrome -GARD:18077 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 -GARD:18078 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 -GARD:18079 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 -GARD:10341 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome -GARD:17805 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome -GARD:3448 Megalocornea-intellectual disability syndrome -GARD:15162 Meier-gorlin syndrome 1 -GARD:15708 Meier-gorlin syndrome 2 -GARD:15710 Meier-gorlin syndrome 3 -GARD:15711 Meier-gorlin syndrome 4 -GARD:15712 Meier-gorlin syndrome 5 -GARD:16163 Meier-gorlin syndrome 6 -GARD:16181 Meier-gorlin syndrome 7 -GARD:3324 Meige disease -GARD:21372 Meigs syndrome -GARD:8468 Melanoma and neural system tumor syndrome -GARD:19367 Melanoma of soft tissue -GARD:18472 Melanoma, cutaneous malignant, susceptibility to, 1 -GARD:18582 Melanoma, cutaneous malignant, susceptibility to, 10 -GARD:18575 Melanoma, cutaneous malignant, susceptibility to, 2 -GARD:18578 Melanoma, cutaneous malignant, susceptibility to, 3 -GARD:18577 Melanoma, cutaneous malignant, susceptibility to, 4 -GARD:18579 Melanoma, cutaneous malignant, susceptibility to, 5 -GARD:18580 Melanoma, cutaneous malignant, susceptibility to, 6 -GARD:18581 Melanoma, cutaneous malignant, susceptibility to, 9 -GARD:18576 Melanoma, malignant familial intraocular -GARD:15394 Melanoma, uveal, susceptibility to, 1 -GARD:15395 Melanoma, uveal, susceptibility to, 2 -GARD:18473 Melanoma-pancreatic cancer syndrome -GARD:3462 Melhem-Fahl syndrome -GARD:9546 Melioidosis -GARD:15986 Melioidosis, susceptibility to -GARD:7010 Melkersson-Rosenthal syndrome -GARD:7011 Melnick-Needles syndrome -GARD:9474 Melorheostosis -GARD:3690 Melorheostosis with osteopoikilosis -GARD:12977 Mendelian susceptibility to mycobacterial diseases -GARD:9185 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency -GARD:17457 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency -GARD:12976 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency -GARD:10984 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency -GARD:17458 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency -GARD:17463 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency -GARD:17462 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency -GARD:20740 Meningeal melanocytoma -GARD:7015 Meningioma -GARD:18385 Meningioma, familial, susceptibility to -GARD:8491 Meningioma, radiation-induced -GARD:18809 Meningococcal meningitis -GARD:22371 Menke-Hennekam syndrome -GARD:1521 Menkes disease -GARD:22017 Menstrual cycle-dependent periodic fever -GARD:22681 Mental retardation, x-linked 82 -GARD:22692 Mental retardation, x-linked 88 -GARD:22688 Mental retardation, x-linked 89 -GARD:22691 Mental retardation, x-linked 92 -GARD:7021 Mercury poisoning -GARD:21761 Mesenchymal tumor of small intestine -GARD:19684 Mesial temporal lobe epilepsy with hippocampal sclerosis -GARD:10590 Mesoaxial synostotic syndactyly with phalangeal reduction -GARD:19259 Mesocardia -GARD:4302 Mesomelia-synostoses syndrome -GARD:19195 Mesomelic and rhizo-mesomelic dysplasia -GARD:3555 Mesomelic dwarfism, Reinhardt-Pfeiffer type -GARD:3552 Mesomelic dwarfism-cleft palate-camptodactyly syndrome -GARD:3074 Mesomelic dysplasia, Kantaputra type -GARD:3554 Mesomelic dysplasia, Nievergelt type -GARD:10584 Mesomelic dysplasia, Savarirayan type -GARD:21321 Metabolic disease due to other fatty acid oxidation disorder -GARD:18979 Metabolic disease involving other neurotransmitter deficiency -GARD:19529 Metabolic disease with cataract -GARD:19490 Metabolic disease with dementia -GARD:19850 Metabolic disease with intestinal involvement -GARD:19015 Metabolic disease with skin involvement -GARD:20089 Metabolic diseases with epilepsy -GARD:19472 Metabolic myopathy -GARD:17067 Metabolic myopathy due to lactate transporter defect -GARD:20557 Metabolic neurotransmission anomaly with epilepsy -GARD:3560 Metachondromatosis -GARD:3230 Metachromatic leukodystrophy -GARD:21330 Metachromatic leukodystrophy, adult form -GARD:21329 Metachromatic leukodystrophy, juvenile form -GARD:21328 Metachromatic leukodystrophy, late infantile form -GARD:20553 Metal transport or utilization disorder with epilepsy -GARD:3519 Metaphyseal acroscyphodysplasia -GARD:3562 Metaphyseal anadysplasia -GARD:15610 Metaphyseal anadysplasia 2 -GARD:79 Metaphyseal chondrodysplasia, Jansen type -GARD:17018 Metaphyseal chondrodysplasia, Kaitila type -GARD:7029 Metaphyseal chondrodysplasia, Schmid type -GARD:3563 Metaphyseal chondrodysplasia, Spahr type -GARD:16902 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria -GARD:3566 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome -GARD:16738 Metaphyseal dysplasia, Braun-Tinschert type -GARD:3568 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome -GARD:10804 Metaplastic carcinoma of the breast -GARD:3571 Metatropic dysplasia -GARD:18804 Methanol poisoning -GARD:3909 Methemoglobin reductase deficiency -GARD:15196 Methemoglobinemia and ambiguous genitalia -GARD:15197 Methemoglobinemia due to deficiency of methemoglobin reductase -GARD:16277 Methemoglobinemia, alpha type -GARD:16276 Methemoglobinemia, beta type -GARD:3573 Methimazole embryofetopathy -GARD:22269 Methotrexate toxicity -GARD:19083 Methotrexate-associated lymphoproliferative disorders -GARD:17385 Methylcobalamin deficiency type cblDv1 -GARD:3576 Methylcobalamin deficiency type cblE -GARD:3577 Methylcobalamin deficiency type cblG -GARD:17390 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency -GARD:3579 Methylmalonic acidemia with homocystinuria -GARD:3584 Methylmalonic acidemia with homocystinuria type cblF -GARD:12128 Methylmalonic acidemia with homocystinuria, type cblC -GARD:3582 Methylmalonic acidemia with homocystinuria, type cblD -GARD:12621 Methylmalonic acidemia with homocystinuria, type cblJ -GARD:13137 Methylmalonic acidemia with homocystinuria, type cblX -GARD:13163 Methylmalonic acidemia without homocystinuria -GARD:16481 Methylmalonic aciduria due to transcobalamin receptor defect -GARD:22047 Metopic ridging-ptosis-facial dysmorphism syndrome -GARD:21315 Mevalonate kinase deficiency -GARD:3588 Mevalonic aciduria -GARD:17446 MiT family translocation renal cell carcinoma -GARD:5534 Micro syndrome -GARD:19497 Microblepharon-ablephara syndrome -GARD:3596 Microbrachycephaly-ptosis-cleft lip syndrome -GARD:17841 Microcephalic cortical malformations-short stature due to RTTN deficiency -GARD:16736 Microcephalic osteodysplastic dysplasia, Saul-Wilson type -GARD:9844 Microcephalic osteodysplastic primordial dwarfism type II -GARD:5120 Microcephalic osteodysplastic primordial dwarfism types I and III -GARD:15144 Microcephalic osteodysplastic primordial dwarfism, type i -GARD:15145 Microcephalic osteodysplastic primordial dwarfism, type iii -GARD:21450 Microcephalic primordial dwarfism -GARD:17498 Microcephalic primordial dwarfism due to ZNF335 deficiency -GARD:17469 Microcephalic primordial dwarfism, Dauber type -GARD:895 Microcephalic primordial dwarfism, Montreal type -GARD:3602 Microcephalic primordial dwarfism, Toriello type -GARD:17728 Microcephalic primordial dwarfism-insulin resistance syndrome -GARD:15198 Microcephaly 1, primary, autosomal recessive -GARD:16057 Microcephaly 12, primary, autosomal recessive -GARD:16054 Microcephaly 13, primary, autosomal recessive -GARD:16105 Microcephaly 14, primary, autosomal recessive -GARD:16151 Microcephaly 16, primary, autosomal recessive -GARD:16186 Microcephaly 17, primary, autosomal recessive -GARD:16233 Microcephaly 18, primary, autosomal dominant -GARD:16253 Microcephaly 19, primary, autosomal recessive -GARD:15366 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations -GARD:16268 Microcephaly 20, primary, autosomal recessive -GARD:16278 Microcephaly 21, primary, autosomal recessive -GARD:16279 Microcephaly 22, primary, autosomal recessive -GARD:16280 Microcephaly 23, primary, autosomal recessive -GARD:16302 Microcephaly 24, primary, autosomal recessive -GARD:16346 Microcephaly 25, primary, autosomal recessive -GARD:16432 Microcephaly 26, primary, autosomal dominant -GARD:16433 Microcephaly 27, primary, autosomal dominant -GARD:15373 Microcephaly 3, primary, autosomal recessive -GARD:15367 Microcephaly 4, primary, autosomal recessive -GARD:15441 Microcephaly 5, primary, autosomal recessive -GARD:15431 Microcephaly 6, primary, autosomal recessive -GARD:15580 Microcephaly 7, primary, autosomal recessive -GARD:15833 Microcephaly 8, primary, autosomal recessive -GARD:15855 Microcephaly 9, primary, autosomal recessive -GARD:18481 Microcephaly and chorioretinopathy, autosomal recessive, 1 -GARD:18482 Microcephaly and chorioretinopathy, autosomal recessive, 3 -GARD:15360 Microcephaly with simplified gyral pattern -GARD:18438 Microcephaly, epilepsy, and diabetes syndrome 1 -GARD:18439 Microcephaly, epilepsy, and diabetes syndrome 2 -GARD:18507 Microcephaly, growth restriction, and increased sister chromatid exchange 2 -GARD:10933 Microcephaly, seizures, and developmental delay -GARD:18459 Microcephaly, short stature, and impaired glucose metabolism 1 -GARD:18460 Microcephaly, short stature, and impaired glucose metabolism 2 -GARD:3604 Microcephaly-albinism-digital anomalies syndrome -GARD:5490 Microcephaly-brachydactyly-kyphoscoliosis syndrome -GARD:3607 Microcephaly-brain defect-spasticity-hypernatremia syndrome -GARD:17354 Microcephaly-capillary malformation syndrome -GARD:2098 Microcephaly-cardiac defect-lung malsegmentation syndrome -GARD:3609 Microcephaly-cardiomyopathy syndrome -GARD:17502 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome -GARD:3610 Microcephaly-cervical spine fusion anomalies syndrome -GARD:8623 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome -GARD:21762 Microcephaly-complex motor and sensory axonal neuropathy syndrome -GARD:17886 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome -GARD:17924 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom -GARD:17803 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome -GARD:230 Microcephaly-deafness-intellectual disability syndrome -GARD:22145 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome -GARD:17116 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type -GARD:3615 Microcephaly-glomerulonephritis-marfanoid habitus syndrome -GARD:17804 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome -GARD:3622 Microcephaly-lymphedema-chorioretinopathy syndrome -GARD:3627 Microcephaly-microcornea syndrome, Seemanova type -GARD:18011 Microcephaly-micromelia syndrome -GARD:20125 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome -GARD:18774 Microcephaly-seizures-intellectual disability-heart disease syndrome -GARD:21751 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome -GARD:18655 Microcephaly-short stature-limb abnormalities syndrome -GARD:17645 Microcephaly-thin corpus callosum-intellectual disability syndrome -GARD:18383 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 -GARD:3637 Microcornea-glaucoma-absent frontal sinuses syndrome -GARD:17593 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome -GARD:10938 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome -GARD:13020 Microcystic lymphatic malformation -GARD:22304 Microcystic stromal tumor -GARD:12360 Microcytic anemia with liver iron overload -GARD:12766 Microduplication Xp11.22p11.23 syndrome -GARD:17290 Microform holoprosencephaly -GARD:3640 Microgastria-limb reduction defect syndrome -GARD:17850 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome -GARD:16555 Microlissencephaly -GARD:18840 Microlissencephaly-micromelia syndrome -GARD:1404 Micromelic bone dysplasia with cloverleaf skull -GARD:3645 Microphthalmia with brain and digit anomalies -GARD:722 Microphthalmia with limb anomalies -GARD:3659 Microphthalmia with linear skin defects syndrome -GARD:87 Microphthalmia, Lenz type -GARD:18628 Microphthalmia, isolated 6 -GARD:16110 Microphthalmia, isolated, with coloboma 10 -GARD:15385 Microphthalmia, isolated, with coloboma 2 -GARD:15471 Microphthalmia, isolated, with coloboma 3 -GARD:15200 Microphthalmia, isolated, with coloboma 4 -GARD:15524 Microphthalmia, isolated, with coloboma 5 -GARD:15692 Microphthalmia, isolated, with coloboma 6 -GARD:15811 Microphthalmia, isolated, with coloboma 7 -GARD:15909 Microphthalmia, isolated, with coloboma 9 -GARD:15304 Microphthalmia, syndromic 1 -GARD:13235 Microphthalmia, syndromic 12 -GARD:5066 Microphthalmia-ankyloblepharon-intellectual disability syndrome -GARD:19493 Microphthalmia-anophthalmia-coloboma -GARD:9292 Microphthalmia-brain atrophy syndrome -GARD:3650 Microphthalmia-microtia-fetal akinesia syndrome -GARD:17205 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome -GARD:3652 Microscopic polyangiitis -GARD:5481 Microspherophakia-metaphyseal dysplasia syndrome -GARD:3655 Microsporidiosis -GARD:431 Microtia -GARD:10300 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome -GARD:21142 Microtriplication 11q24.1 -GARD:7039 Microvillus inclusion disease -GARD:20082 Micturation-induced seizures -GARD:20589 Mid-dermal elastolysis -GARD:22321 Middle East respiratory syndrome -GARD:20056 Middle ear anomaly -GARD:19759 Middle ear neuroendocrine tumor -GARD:20978 Midline cerebral malformation -GARD:19971 Midline cervical cleft -GARD:16832 Midline interhemispheric variant of holoprosencephaly -GARD:3524 Mietens syndrome -GARD:2638 Migraine, familial hemiplegic, 1 -GARD:10095 Migraine, familial hemiplegic, 2 -GARD:10974 Migraine, familial hemiplegic, 3 -GARD:3617 Mikati-Najjar-Sahli syndrome -GARD:17438 Mild Canavan disease -GARD:17061 Mild hemophilia A -GARD:17058 Mild hemophilia B -GARD:19027 Mild hyperphenylalaninemia -GARD:10324 Mild phenylketonuria -GARD:17681 Mild phosphoribosylpyrophosphate synthetase superactivity -GARD:16812 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis -GARD:3668 Miller Fisher syndrome -GARD:3669 Miller-Dieker syndrome -GARD:19250 Mills syndrome -GARD:7220 Milroy disease -GARD:21529 Minimal pigment oculocutaneous albinism type 1 -GARD:10177 Mirizzi syndrome -GARD:15086 Mirror movements 1 -GARD:15814 Mirror movements 2 -GARD:16055 Mirror movements 3 -GARD:16333 Mirror movements 4 -GARD:18784 Mirror polydactyly-vertebral segmentation-limbs defects syndrome -GARD:22034 Mirror-image polydactyly -GARD:21285 Miscellaneous movement disorder due to genetic neurodegenerative disease -GARD:21267 Miscellaneous movement disorder due to neurodegenerative disease -GARD:420 Mismatch repair cancer syndrome 1 -GARD:18362 Mismatch repair cancer syndrome 2 -GARD:18363 Mismatch repair cancer syndrome 3 -GARD:18364 Mismatch repair cancer syndrome 4 -GARD:13643 Mitochondrial DNA depletion syndrome -GARD:17225 Mitochondrial DNA depletion syndrome, encephalomyopathic form -GARD:3681 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria -GARD:13200 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy -GARD:13298 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies -GARD:20769 Mitochondrial DNA depletion syndrome, hepatocerebral form -GARD:13644 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency -GARD:17564 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form -GARD:17228 Mitochondrial DNA depletion syndrome, myopathic form -GARD:21520 Mitochondrial DNA maintenance syndrome -GARD:3671 Mitochondrial DNA-associated Leigh syndrome -GARD:18719 Mitochondrial DNA-related cardiomyopathy and hearing loss -GARD:20767 Mitochondrial DNA-related dystonia -GARD:20757 Mitochondrial DNA-related mitochondrial myopathy -GARD:16479 Mitochondrial DNA-related progressive external ophthalmoplegia -GARD:15201 Mitochondrial complex i deficiency, nuclear type 1 -GARD:16320 Mitochondrial complex i deficiency, nuclear type 10 -GARD:16321 Mitochondrial complex i deficiency, nuclear type 11 -GARD:15283 Mitochondrial complex i deficiency, nuclear type 12 -GARD:18371 Mitochondrial complex i deficiency, nuclear type 13 -GARD:16322 Mitochondrial complex i deficiency, nuclear type 14 -GARD:16323 Mitochondrial complex i deficiency, nuclear type 15 -GARD:16324 Mitochondrial complex i deficiency, nuclear type 16 -GARD:18372 Mitochondrial complex i deficiency, nuclear type 17 -GARD:16325 Mitochondrial complex i deficiency, nuclear type 18 -GARD:16326 Mitochondrial complex i deficiency, nuclear type 19 -GARD:16312 Mitochondrial complex i deficiency, nuclear type 2 -GARD:16327 Mitochondrial complex i deficiency, nuclear type 21 -GARD:18373 Mitochondrial complex i deficiency, nuclear type 22 -GARD:18374 Mitochondrial complex i deficiency, nuclear type 23 -GARD:16328 Mitochondrial complex i deficiency, nuclear type 24 -GARD:16329 Mitochondrial complex i deficiency, nuclear type 25 -GARD:18375 Mitochondrial complex i deficiency, nuclear type 27 -GARD:18376 Mitochondrial complex i deficiency, nuclear type 28 -GARD:16330 Mitochondrial complex i deficiency, nuclear type 29 -GARD:16313 Mitochondrial complex i deficiency, nuclear type 3 -GARD:15284 Mitochondrial complex i deficiency, nuclear type 30 -GARD:16331 Mitochondrial complex i deficiency, nuclear type 31 -GARD:18067 Mitochondrial complex i deficiency, nuclear type 32 -GARD:16332 Mitochondrial complex i deficiency, nuclear type 33 -GARD:16378 Mitochondrial complex i deficiency, nuclear type 34 -GARD:16401 Mitochondrial complex i deficiency, nuclear type 35 -GARD:16431 Mitochondrial complex i deficiency, nuclear type 36 -GARD:16440 Mitochondrial complex i deficiency, nuclear type 37 -GARD:16314 Mitochondrial complex i deficiency, nuclear type 4 -GARD:16315 Mitochondrial complex i deficiency, nuclear type 5 -GARD:16316 Mitochondrial complex i deficiency, nuclear type 6 -GARD:16317 Mitochondrial complex i deficiency, nuclear type 7 -GARD:16318 Mitochondrial complex i deficiency, nuclear type 8 -GARD:16319 Mitochondrial complex i deficiency, nuclear type 9 -GARD:15202 Mitochondrial complex ii deficiency, nuclear type 1 -GARD:16429 Mitochondrial complex ii deficiency, nuclear type 2 -GARD:16430 Mitochondrial complex ii deficiency, nuclear type 3 -GARD:16438 Mitochondrial complex ii deficiency, nuclear type 4 -GARD:15056 Mitochondrial complex iii deficiency, nuclear type 1 -GARD:16377 Mitochondrial complex iii deficiency, nuclear type 10 -GARD:15910 Mitochondrial complex iii deficiency, nuclear type 2 -GARD:15911 Mitochondrial complex iii deficiency, nuclear type 3 -GARD:15912 Mitochondrial complex iii deficiency, nuclear type 4 -GARD:15913 Mitochondrial complex iii deficiency, nuclear type 5 -GARD:15970 Mitochondrial complex iii deficiency, nuclear type 6 -GARD:16015 Mitochondrial complex iii deficiency, nuclear type 7 -GARD:16018 Mitochondrial complex iii deficiency, nuclear type 8 -GARD:16060 Mitochondrial complex iii deficiency, nuclear type 9 -GARD:15158 Mitochondrial complex iv deficiency, nuclear type 1 -GARD:16408 Mitochondrial complex iv deficiency, nuclear type 10 -GARD:16409 Mitochondrial complex iv deficiency, nuclear type 11 -GARD:16410 Mitochondrial complex iv deficiency, nuclear type 12 -GARD:18573 Mitochondrial complex iv deficiency, nuclear type 13 -GARD:16411 Mitochondrial complex iv deficiency, nuclear type 14 -GARD:16412 Mitochondrial complex iv deficiency, nuclear type 15 -GARD:16413 Mitochondrial complex iv deficiency, nuclear type 16 -GARD:16414 Mitochondrial complex iv deficiency, nuclear type 17 -GARD:16415 Mitochondrial complex iv deficiency, nuclear type 18 -GARD:16416 Mitochondrial complex iv deficiency, nuclear type 19 -GARD:18570 Mitochondrial complex iv deficiency, nuclear type 2 -GARD:16417 Mitochondrial complex iv deficiency, nuclear type 20 -GARD:16418 Mitochondrial complex iv deficiency, nuclear type 21 -GARD:16448 Mitochondrial complex iv deficiency, nuclear type 22 -GARD:16404 Mitochondrial complex iv deficiency, nuclear type 3 -GARD:16405 Mitochondrial complex iv deficiency, nuclear type 4 -GARD:15159 Mitochondrial complex iv deficiency, nuclear type 5 -GARD:18571 Mitochondrial complex iv deficiency, nuclear type 6 -GARD:16406 Mitochondrial complex iv deficiency, nuclear type 7 -GARD:16407 Mitochondrial complex iv deficiency, nuclear type 8 -GARD:18572 Mitochondrial complex iv deficiency, nuclear type 9 -GARD:18660 Mitochondrial complex v (atp synthase) deficiency, nuclear type 1 -GARD:18666 Mitochondrial complex v (atp synthase) deficiency, nuclear type 3 -GARD:18667 Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 -GARD:18670 Mitochondrial complex v (atp synthase) deficiency, nuclear type 5 -GARD:18673 Mitochondrial complex v (atp synthase) deficiency, nuclear type 6 -GARD:18887 Mitochondrial disease -GARD:20527 Mitochondrial disease with dilated cardiomyopathy -GARD:20555 Mitochondrial disease with epilepsy -GARD:20521 Mitochondrial disease with hypertrophic cardiomyopathy -GARD:20556 Mitochondrial disease with peripheral neuropathy -GARD:21322 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -GARD:18814 Mitochondrial disorder due to a defect in mitochondrial protein synthesis -GARD:15961 Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive -GARD:18370 Mitochondrial dna depletion syndrome 19 -GARD:18369 Mitochondrial dna depletion syndrome 2 (myopathic type) -GARD:17428 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency -GARD:12569 Mitochondrial membrane protein-associated neurodegeneration -GARD:20761 Mitochondrial membrane transport disorder -GARD:20371 Mitochondrial myopathy -GARD:3885 Mitochondrial myopathy and sideroblastic anemia -GARD:17227 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency -GARD:17934 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome -GARD:3682 Mitochondrial myopathy-lactic acidosis-deafness syndrome -GARD:9920 Mitochondrial neurogastrointestinal encephalomyopathy -GARD:16792 Mitochondrial non-syndromic sensorineural deafness -GARD:20546 Mitochondrial oxidative phosphorylation disorder -GARD:20755 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA -GARD:20756 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -GARD:20754 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies -GARD:18771 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -GARD:20760 Mitochondrial oxidative phosphorylation disorder with no known mechanism -GARD:20763 Mitochondrial protein import disorder -GARD:17771 Mitochondrial pyruvate carrier deficiency -GARD:13019 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency -GARD:20762 Mitochondrial substrate carrier disorder -GARD:3684 Mitochondrial trifunctional protein deficiency -GARD:3685 Mitral atresia -GARD:19629 Mitral valve agenesis -GARD:3688 Mitral valve prolapse 1 -GARD:15421 Mitral valve prolapse 2 -GARD:15501 Mitral valve prolapse 3 -GARD:21456 Mixed autoinflammatory and autoimmune syndrome -GARD:7051 Mixed connective tissue disease -GARD:19220 Mixed cryoglobulinemia type II -GARD:19221 Mixed cryoglobulinemia type III -GARD:21912 Mixed cystic lymphatic malformation -GARD:19009 Mixed dermis disorder -GARD:21390 Mixed functioning pituitary adenoma -GARD:20202 Mixed germ cell tumor -GARD:20736 Mixed germ cell tumor of central nervous system -GARD:22057 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas -GARD:20728 Mixed neuronal-glial tumor -GARD:17972 Mixed phenotype acute leukemia -GARD:22354 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) -GARD:22357 Mixed phenotype acute leukemia with t(v;11q23.3) -GARD:21439 Mixed sclerosing bone dystrophy with extra-skeletal manifestations -GARD:19101 Mixed-type autoimmune hemolytic anemia -GARD:15648 Miyoshi muscular dystrophy 2 -GARD:9676 Miyoshi myopathy -GARD:19108 Moderate and severe traumatic brain injury -GARD:17060 Moderate hemophilia A -GARD:17057 Moderate hemophilia B -GARD:17078 Moderate multiminicore disease with hand involvement -GARD:20896 Moderately-differentiated thymic neuroendocrine carcinoma -GARD:8549 Moebius syndrome -GARD:3698 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome -GARD:8331 Mohr-Tranebjaerg syndrome -GARD:93 Monilethrix -GARD:3531 Monoamine oxidase A deficiency -GARD:12980 Monoclonal mast cell activation syndrome -GARD:15203 Monocyte chemotactic disorder -GARD:10934 Monocytopenia with susceptibility to infections -GARD:20086 Monogenic disease with epilepsy -GARD:9697 Monomelic amyotrophy -GARD:4886 Mononen-Karnes-Senac syndrome -GARD:16570 Monosomy 13q14 -GARD:16847 Monosomy 13q34 -GARD:8631 Monosomy 18p -GARD:10865 Monosomy 18q -GARD:10860 Monosomy 21 -GARD:19324 Monosomy 22 -GARD:10130 Monosomy 22q13.3 -GARD:6213 Monosomy 5p -GARD:18505 Monosomy 7 myelodysplasia and leukemia syndrome 1 -GARD:18506 Monosomy 7 myelodysplasia and leukemia syndrome 2 -GARD:3773 Monosomy 9p -GARD:18934 Monosomy 9q22.3 -GARD:19676 Monosomy X -GARD:19181 Monostotic fibrous dysplasia -GARD:22132 Mooren ulcer -GARD:8593 Morgagni-Stewart-Morel syndrome -GARD:13354 Morning glory disc anomaly -GARD:9766 Morvan syndrome -GARD:21493 Mosaic genome-wide paternal uniparental disomy -GARD:19677 Mosaic monosomy X -GARD:18736 Mosaic trisomy 1 -GARD:19302 Mosaic trisomy 10 -GARD:5304 Mosaic trisomy 12 -GARD:1327 Mosaic trisomy 14 -GARD:5313 Mosaic trisomy 15 -GARD:18741 Mosaic trisomy 16 -GARD:5317 Mosaic trisomy 17 -GARD:5331 Mosaic trisomy 2 -GARD:18744 Mosaic trisomy 20 -GARD:6085 Mosaic trisomy 22 -GARD:5342 Mosaic trisomy 3 -GARD:19300 Mosaic trisomy 4 -GARD:19301 Mosaic trisomy 5 -GARD:5354 Mosaic trisomy 7 -GARD:5359 Mosaic trisomy 8 -GARD:43 Mosaic trisomy 9 -GARD:3007 Mosaic variegated aneuploidy syndrome -GARD:15758 Mosaic variegated aneuploidy syndrome 2 -GARD:16240 Mosaic variegated aneuploidy syndrome 3 -GARD:19477 Motor neuron disease -GARD:21279 Motor stereotypies -GARD:3793 Mounier-Kühn syndrome -GARD:9673 Mowat-Wilson syndrome -GARD:17249 Mowat-Wilson syndrome due to a ZEB2 point mutation -GARD:17248 Mowat-Wilson syndrome due to monosomy 2q22 -GARD:21964 Moyamoya angiopathy -GARD:17301 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome -GARD:7064 Moyamoya disease -GARD:15410 Moyamoya disease 2 -GARD:15442 Moyamoya disease 3 -GARD:15746 Moyamoya disease 5 -GARD:17664 Moyamoya disease with early-onset achalasia -GARD:606 Moynahan syndrome -GARD:19741 Mu-heavy chain disease -GARD:21651 Mucinous adenocarcinoma of ovary -GARD:21629 Mucinous adenocarcinoma of the appendix -GARD:21778 Mucinous cystadenocarcinoma of the pancreas -GARD:22257 Mucinous cystadenoma of childhood -GARD:21418 Mucinous tubular and spindle cell renal carcinoma -GARD:8472 Muckle-Wells syndrome -GARD:16600 Mucocutaneous venous malformations -GARD:18975 Mucolipidosis -GARD:6749 Mucolipidosis type II -GARD:3806 Mucolipidosis type III -GARD:17704 Mucolipidosis type III alpha/beta -GARD:17705 Mucolipidosis type III gamma -GARD:94 Mucolipidosis type IV -GARD:7065 Mucopolysaccharidosis -GARD:10335 Mucopolysaccharidosis type 1 -GARD:6675 Mucopolysaccharidosis type 2 -GARD:17119 Mucopolysaccharidosis type 2, attenuated form -GARD:17118 Mucopolysaccharidosis type 2, severe form -GARD:3807 Mucopolysaccharidosis type 3 -GARD:12562 Mucopolysaccharidosis type 4 -GARD:3785 Mucopolysaccharidosis type 4A -GARD:3786 Mucopolysaccharidosis type 4B -GARD:7095 Mucopolysaccharidosis type 6 -GARD:21046 Mucopolysaccharidosis type 6, rapidly progressing -GARD:21047 Mucopolysaccharidosis type 6, slowly progressing -GARD:7096 Mucopolysaccharidosis type 7 -GARD:19016 Mucopolysaccharidosis with skin involvement -GARD:17944 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders -GARD:5913 Mucous membrane pemphigoid -GARD:22283 Mueller-Weiss syndrome -GARD:7097 Muenke syndrome -GARD:6821 Muir-Torre syndrome -GARD:95 Mulibrey nanism -GARD:3818 Multicentric carpo-tarsal osteolysis with or without nephropathy -GARD:13743 Multicentric osteolysis, nodulosis, and arthropathy -GARD:17610 Multicentric osteolysis-nodulosis-arthropathy spectrum -GARD:7103 Multicentric reticulohistiocytosis -GARD:18748 Multicystic dysplastic kidney -GARD:1235 Multifocal atrial tachycardia -GARD:10467 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome -GARD:11011 Multifocal motor neuropathy -GARD:19612 Multifocal pattern dystrophy simulating fundus flavimaculatus -GARD:21417 Multilocular cystic renal neoplasm of low malignant potential -GARD:19376 Multiloculated renal cyst -GARD:16536 Multiminicore myopathy -GARD:1671 Multinodular goiter-cystic kidney-polydactyly syndrome -GARD:17922 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome -GARD:6523 Multiple acyl-CoA dehydrogenase deficiency -GARD:17627 Multiple acyl-CoA dehydrogenase deficiency, mild type -GARD:17626 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type -GARD:3589 Multiple benign circumferential skin creases on limbs -GARD:3824 Multiple carboxylase deficiency -GARD:12781 Multiple congenital anomalies-hypotonia-seizures syndrome -GARD:16363 Multiple congenital anomalies-hypotonia-seizures syndrome 4 -GARD:12777 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 -GARD:18876 Multiple congenital anomalies/dysmorphic syndrome -GARD:19833 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability -GARD:19832 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability -GARD:21044 Multiple endocrine neoplasia -GARD:3829 Multiple endocrine neoplasia type 1 -GARD:3830 Multiple endocrine neoplasia type 2 -GARD:4881 Multiple endocrine neoplasia type 2A -GARD:10225 Multiple endocrine neoplasia type 2B -GARD:17275 Multiple endocrine neoplasia type 4 -GARD:10756 Multiple epiphyseal dysplasia -GARD:19191 Multiple epiphyseal dysplasia and pseudoachondroplasia -GARD:15024 Multiple epiphyseal dysplasia due to collagen 9 anomaly -GARD:2180 Multiple epiphyseal dysplasia type 1 -GARD:9793 Multiple epiphyseal dysplasia type 4 -GARD:9794 Multiple epiphyseal dysplasia type 5 -GARD:17014 Multiple epiphyseal dysplasia, Al-Gazali type -GARD:17012 Multiple epiphyseal dysplasia, Beighton type -GARD:17013 Multiple epiphyseal dysplasia, Lowry type -GARD:17016 Multiple epiphyseal dysplasia, with miniepiphyses -GARD:17015 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia -GARD:3013 Multiple intestinal atresia -GARD:19192 Multiple metaphyseal dysplasia -GARD:20758 Multiple mitochondrial DNA deletion syndrome -GARD:12632 Multiple mitochondrial dysfunctions syndrome -GARD:17661 Multiple mitochondrial dysfunctions syndrome type 1 -GARD:17662 Multiple mitochondrial dysfunctions syndrome type 2 -GARD:17555 Multiple mitochondrial dysfunctions syndrome type 3 -GARD:17809 Multiple mitochondrial dysfunctions syndrome type 4 -GARD:22305 Multiple mitochondrial dysfunctions syndrome type 5 -GARD:18004 Multiple mitochondrial dysfunctions syndrome type 6 -GARD:7108 Multiple myeloma -GARD:7035 Multiple osteochondromas -GARD:21435 Multiple paragangliomas associated with polycythemia -GARD:19766 Multiple polyglandular tumor -GARD:21177 Multiple pterygium syndrome -GARD:3361 Multiple pterygium-malignant hyperthermia syndrome -GARD:20571 Multiple sclerosis variant -GARD:18787 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome -GARD:3090 Multiple self-healing squamous epithelioma -GARD:5061 Multiple sulfatase deficiency -GARD:6957 Multiple symmetric lipomatosis -GARD:3836 Multiple synostoses syndrome -GARD:15115 Multiple synostoses syndrome 1 -GARD:9916 Multiple synostoses syndrome 2 -GARD:15597 Multiple synostoses syndrome 3 -GARD:7079 Multiple system atrophy -GARD:20565 Multiple system atrophy, cerebellar type -GARD:19604 Multiple system atrophy, parkinsonian type -GARD:22403 Multisystem inflammatory syndrome in children and adults -GARD:12811 Multisystemic smooth muscle dysfunction syndrome -GARD:19033 Murine typhus -GARD:17062 Muscle filaminopathy -GARD:156 Muscle-eye-brain disease -GARD:17608 Muscle-eye-brain disease with bilateral multicystic leucodystrophy -GARD:2417 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome -GARD:18917 Muscular channelopathy -GARD:7922 Muscular dystrophy -GARD:17096 Muscular dystrophy, Selcen type -GARD:15089 Muscular dystrophy, pseudohypertrophic, with internalized capillaries -GARD:15317 Muscular dystrophy, scapulohumeral -GARD:15898 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 -GARD:15915 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 -GARD:15927 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 -GARD:15938 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 -GARD:15948 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 -GARD:15624 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 -GARD:15204 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 -GARD:15205 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 -GARD:15625 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 -GARD:15626 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 -GARD:15829 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 -GARD:15846 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 -GARD:16134 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 -GARD:18455 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 -GARD:18456 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 -GARD:16294 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8 -GARD:20370 Muscular glycogenosis -GARD:21441 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome -GARD:20369 Muscular lipidosis -GARD:8270 Muscular pseudohypertrophy-hypothyroidism syndrome -GARD:20375 Muscular tumor -GARD:8486 Musculocontractural Ehlers-Danlos syndrome -GARD:19531 Musculoskeletal disease with cataract -GARD:16959 Mutilating hereditary sensory neuropathy with spastic paraplegia -GARD:4075 Mutilating palmoplantar keratoderma with periorificial keratotic plaques -GARD:18775 Myalgia-eosinophilia syndrome associated with tryptophan -GARD:7122 Myasthenia gravis -GARD:15206 Myasthenic syndrome, congenital, 10 -GARD:16089 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency -GARD:18451 Myasthenic syndrome, congenital, 12 -GARD:18452 Myasthenic syndrome, congenital, 13 -GARD:18454 Myasthenic syndrome, congenital, 14 -GARD:18453 Myasthenic syndrome, congenital, 15 -GARD:15771 Myasthenic syndrome, congenital, 16 -GARD:16080 Myasthenic syndrome, congenital, 17 -GARD:16091 Myasthenic syndrome, congenital, 18 -GARD:16153 Myasthenic syndrome, congenital, 19 -GARD:15330 Myasthenic syndrome, congenital, 1a, slow-channel -GARD:15445 Myasthenic syndrome, congenital, 1b, fast-channel -GARD:16202 Myasthenic syndrome, congenital, 20, presynaptic -GARD:16212 Myasthenic syndrome, congenital, 21, presynaptic -GARD:16308 Myasthenic syndrome, congenital, 23, presynaptic -GARD:16309 Myasthenic syndrome, congenital, 24, presynaptic -GARD:16341 Myasthenic syndrome, congenital, 25, presynaptic -GARD:9895 Myasthenic syndrome, congenital, 2a, slow-channel -GARD:16083 Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency -GARD:16084 Myasthenic syndrome, congenital, 3a, slow-channel -GARD:16085 Myasthenic syndrome, congenital, 3b, fast-channel -GARD:16086 Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency -GARD:15387 Myasthenic syndrome, congenital, 4a, slow-channel -GARD:16087 Myasthenic syndrome, congenital, 4b, fast-channel -GARD:10108 Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency -GARD:18210 Myasthenic syndrome, congenital, 5 -GARD:9689 Myasthenic syndrome, congenital, 6, presynaptic -GARD:16053 Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant -GARD:15908 Myasthenic syndrome, congenital, 8 -GARD:16088 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency -GARD:3862 Mycetoma -GARD:2456 Mycobacterium tuberculosis, susceptibility to -GARD:20946 Mycophenolate mofetil embryopathy -GARD:19040 Mycoplasma encephalitis -GARD:20166 Mycosis fungoides and variants -GARD:20966 Myelocystocele -GARD:7132 Myelodysplastic syndrome -GARD:8723 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality -GARD:9351 Myelodysplastic/myeloproliferative disease -GARD:20130 Myeloid hemopathy -GARD:12763 Myeloid sarcoma -GARD:17043 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement -GARD:22355 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement -GARD:20106 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement -GARD:20107 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement -GARD:20105 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 -GARD:3475 Myelomeningocele -GARD:3868 Myeloperoxidase deficiency -GARD:9319 Myeloproliferative neoplasm -GARD:2572 Myhre syndrome -GARD:18924 Myiasis -GARD:19088 Myoclonic epilepsy in non-progressive encephalopathies -GARD:19086 Myoclonic epilepsy of infancy -GARD:15443 Myoclonic epilepsy, juvenile, susceptibility to, 3 -GARD:15513 Myoclonic epilepsy, juvenile, susceptibility to, 4 -GARD:2169 Myoclonic-astatic epilepsy -GARD:16108 Myoclonic-atonic epilepsy -GARD:3873 Myoclonus-cerebellar ataxia-deafness syndrome -GARD:7139 Myoclonus-dystonia syndrome -GARD:10529 Myofibrillar myopathy -GARD:15939 Myofibromatosis, infantile, 2 -GARD:18251 Myoglobinuria, acute recurrent, autosomal recessive -GARD:3879 Myoglobinuria, recurrent -GARD:22215 Myopathic Ehlers-Danlos syndrome -GARD:19853 Myopathic intestinal pseudoobstruction -GARD:3881 Myopathy and diabetes mellitus -GARD:15248 Myopathy due to myoadenylate deaminase deficiency -GARD:20129 Myopathy with hexagonally cross-linked tubular arrays -GARD:15208 Myopathy, centronuclear, 2 -GARD:16035 Myopathy, centronuclear, 5 -GARD:16250 Myopathy, centronuclear, 6, with fiber-type disproportion -GARD:15258 Myopathy, congenital, with fiber-type disproportion, x-linked -GARD:16204 Myopathy, distal, with rimmed vacuoles -GARD:15676 Myopathy, lactic acidosis, and sideroblastic anemia 2 -GARD:15312 Myopathy, lactic acidosis, and sideroblastic anemia 3 -GARD:15429 Myopathy, myosin storage, autosomal dominant -GARD:15207 Myopathy, myosin storage, autosomal recessive -GARD:16026 Myopathy, tubular aggregate, 2 -GARD:21152 Myopericytoma -GARD:18198 Myopia 23, autosomal recessive -GARD:9937 Myopia 6 -GARD:18197 Myopia, high, with cataract and vitreoretinal degeneration -GARD:20153 Myopic macular degeneration -GARD:17325 Myosclerosis -GARD:21255 Myospherulosis -GARD:10238 Myostatin-related muscle hypertrophy -GARD:20440 Myotilinopathy -GARD:6176 Myotonia congenita, autosomal dominant -GARD:844 Myotonia congenita, autosomal recessive -GARD:16904 Myotonia fluctuans -GARD:16905 Myotonia permanens -GARD:10419 Myotonic dystrophy -GARD:20372 Myotonic syndrome -GARD:18941 Myxofibrosarcoma -GARD:15667 Myxoid liposarcoma -GARD:7157 Myxoid/round cell liposarcoma -GARD:10633 Myxopapillary ependymoma -GARD:2436 Ménétrier disease -GARD:7100 Müllerian aplasia -GARD:17195 Müllerian aplasia and hyperandrogenism -GARD:5430 Müllerian derivatives-lymphangiectasia-polydactyly syndrome -GARD:2908 Müllerian duct anomalies-limb anomalies syndrome -GARD:3902 N syndrome -GARD:17990 NAD(P)HX dehydratase deficiency -GARD:17991 NAD(P)HX epimerase deficiency -GARD:262 NARP syndrome -GARD:10216 NDE1-related microhydranencephaly -GARD:17818 NEK9-related lethal skeletal dysplasia -GARD:21593 NEVADA syndrome -GARD:21864 NIK deficiency -GARD:20905 NK-cell enteropathy -GARD:17964 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy -GARD:18014 NLRC4-related familial cold autoinflammatory syndrome -GARD:17201 NLRP12-associated hereditary periodic fever syndrome -GARD:20513 NMDA receptor encephalitis -GARD:4665 NPHP3-related Meckel-like syndrome -GARD:22416 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance -GARD:17790 NTHL1-related attenuated familial adenomatous polyposis -GARD:21852 NUT midline carcinoma -GARD:3912 Naegeli-Franceschetti-Jadassohn syndrome -GARD:498 Nager syndrome -GARD:17703 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome -GARD:18999 Nail anomaly -GARD:15040 Nail disorder, nonsyndromic congenital, 6 -GARD:15762 Nail disorder, nonsyndromic congenital, 9 -GARD:7160 Nail-patella syndrome -GARD:321 Nail-patella-like renal disease -GARD:7161 Nance-Horan syndrome -GARD:16637 Nanophthalmos -GARD:18625 Nanophthalmos 1 -GARD:18626 Nanophthalmos 2 -GARD:18627 Nanophthalmos 3 -GARD:18629 Nanophthalmos 4 -GARD:22460 Narcolepsy -GARD:15091 Narcolepsy 1 -GARD:15388 Narcolepsy 2, susceptibility to -GARD:15447 Narcolepsy 3 -GARD:15555 Narcolepsy 4, susceptibility to -GARD:15587 Narcolepsy 5, susceptibility to -GARD:15779 Narcolepsy 6, susceptibility to -GARD:15783 Narcolepsy 7 -GARD:7162 Narcolepsy type 1 -GARD:19038 Narcolepsy type 2 -GARD:16970 Nasal dermoid cyst -GARD:19963 Nasal dorsum fistula -GARD:19951 Nasal encephalocele -GARD:19950 Nasal ganglioglioma -GARD:19949 Nasal glial heterotopia -GARD:19944 Nasolacrimal duct cyst -GARD:3927 Nasopalpebral lipoma-coloboma syndrome -GARD:7163 Nasopharyngeal carcinoma -GARD:15092 Nasopharyngeal carcinoma, susceptibility to, 2 -GARD:16184 Nasopharyngeal carcinoma, susceptibility to, 3 -GARD:19948 Nasopharyngeal teratoma -GARD:9921 Nasu-Hakola disease -GARD:3929 Nathalie syndrome -GARD:8432 Native American myopathy -GARD:3972 Navajo neurohepatopathy -GARD:9795 Naxos disease -GARD:13040 Necrobiosis lipoidica -GARD:10951 Necrobiotic xanthogranuloma -GARD:9767 Necrotizing enterocolitis -GARD:21839 Necrotizing soft tissue infection -GARD:7170 Nelson syndrome -GARD:12033 Nemaline myopathy -GARD:15453 Nemaline myopathy 1 -GARD:16066 Nemaline myopathy 10 -GARD:16222 Nemaline myopathy 11, autosomal recessive -GARD:15209 Nemaline myopathy 2 -GARD:10111 Nemaline myopathy 3 -GARD:15454 Nemaline myopathy 4 -GARD:15452 Nemaline myopathy 6 -GARD:15493 Nemaline myopathy 7 -GARD:15946 Nemaline myopathy 8 -GARD:16007 Nemaline myopathy 9 -GARD:21128 Neonatal Marfan syndrome -GARD:17126 Neonatal acute respiratory distress due to SP-B deficiency -GARD:559 Neonatal adrenoleukodystrophy -GARD:21929 Neonatal alloimmune neutropenia -GARD:21644 Neonatal antiphospholipid syndrome -GARD:21645 Neonatal autoimmune hemolytic anemia -GARD:19892 Neonatal brainstem dysfunction -GARD:21646 Neonatal dermatomyositis -GARD:18682 Neonatal diabetes mellitus -GARD:16699 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome -GARD:17796 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome -GARD:19435 Neonatal epilepsy syndrome -GARD:17994 Neonatal epileptic encephalopathy due to glutaminase deficiency -GARD:17332 Neonatal glycine encephalopathy -GARD:7172 Neonatal hemochromatosis -GARD:19875 Neonatal hypoxic and ischemic brain injury -GARD:10583 Neonatal ichthyosis-sclerosing cholangitis syndrome -GARD:17355 Neonatal inflammatory skin and bowel disease -GARD:10214 Neonatal intrahepatic cholestasis due to citrin deficiency -GARD:20644 Neonatal iodine exposure -GARD:21647 Neonatal lupus erythematosus -GARD:19199 Neonatal osteosclerotic dysplasia -GARD:21648 Neonatal scleroderma -GARD:17831 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect -GARD:2838 Neonatal severe primary hyperparathyroidism -GARD:22462 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 -GARD:19245 Neovascular glaucoma -GARD:7892 Nephroblastoma -GARD:7178 Nephrogenic diabetes insipidus -GARD:259 Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome -GARD:10306 Nephrogenic syndrome of inappropriate antidiuresis -GARD:9725 Nephrogenic systemic fibrosis -GARD:15305 Nephrolithiasis, x-linked recessive, with renal failure -GARD:18346 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 -GARD:18347 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 -GARD:206 Nephronophthisis -GARD:18080 Nephronophthisis 11 -GARD:15852 Nephronophthisis 15 -GARD:18183 Nephronophthisis 16 -GARD:18081 Nephronophthisis 19 -GARD:18182 Nephronophthisis 2 -GARD:18181 Nephronophthisis 20 -GARD:18179 Nephronophthisis 3 -GARD:18180 Nephronophthisis-like nephropathy 1 -GARD:19229 Nephropathy secondary to a storage or other metabolic disease -GARD:15344 Nephropathy, progressive tubulointerstitial, with cholestatic liver disease -GARD:3940 Nephropathy-deafness-hyperparathyroidism syndrome -GARD:3943 Nephrosis-deafness-urinary tract-digital malformations syndrome -GARD:22294 Nephrotic syndrome without extrarenal manifestations -GARD:16155 Nephrotic syndrome, type 11 -GARD:16166 Nephrotic syndrome, type 12 -GARD:16167 Nephrotic syndrome, type 13 -GARD:16299 Nephrotic syndrome, type 17 -GARD:16300 Nephrotic syndrome, type 18 -GARD:16301 Nephrotic syndrome, type 19 -GARD:15326 Nephrotic syndrome, type 2 -GARD:15285 Nephrotic syndrome, type 20 -GARD:16428 Nephrotic syndrome, type 22 -GARD:16435 Nephrotic syndrome, type 23 -GARD:15495 Nephrotic syndrome, type 3 -GARD:15210 Nephrotic syndrome, type 4 -GARD:15770 Nephrotic syndrome, type 6 -GARD:18557 Nephrotic syndrome, type 7 -GARD:15925 Nephrotic syndrome, type 8 -GARD:15989 Nephrotic syndrome, type 9 -GARD:17367 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome -GARD:16459 Nescav syndrome -GARD:11008 Nestor-Guillermo progeria syndrome -GARD:7182 Netherton syndrome -GARD:102 Neu-Laxova syndrome -GARD:22336 Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency -GARD:22337 Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency -GARD:22335 Neu-laxova syndrome due to phosphoserine aminotransferase deficiency -GARD:19638 Neuhauser anomaly -GARD:3949 Neuhauser-Eichner-Opitz syndrome -GARD:17268 Neural tube closure defect -GARD:18796 Neural tube defect -GARD:4228 Neuralgic amyotrophy -GARD:20975 Neurenteric cyst -GARD:19930 Neuro-ophthalmological disease -GARD:10902 Neuroacanthocytosis -GARD:7185 Neuroblastoma -GARD:15211 Neuroblastoma, susceptibility to, 1 -GARD:15603 Neuroblastoma, susceptibility to, 2 -GARD:15604 Neuroblastoma, susceptibility to, 3 -GARD:15605 Neuroblastoma, susceptibility to, 4 -GARD:15606 Neuroblastoma, susceptibility to, 5 -GARD:15607 Neuroblastoma, susceptibility to, 6 -GARD:16161 Neuroblastoma, susceptibility to, 7 -GARD:7186 Neurocutaneous melanocytosis -GARD:20084 Neurocutaneous syndrome with epilepsy -GARD:13202 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency -GARD:11899 Neurodegeneration with brain iron accumulation -GARD:10688 Neurodegeneration with brain iron accumulation 2b -GARD:21271 Neurodegenerative disease with chorea -GARD:19484 Neurodegenerative disease with dementia -GARD:10594 Neurodegenerative syndrome due to cerebral folate transport deficiency -GARD:17969 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome -GARD:18519 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly -GARD:18542 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism -GARD:18545 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia -GARD:18513 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies -GARD:18521 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies -GARD:18543 Neurodevelopmental disorder with dysmorphic facies and variable seizures -GARD:18528 Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia -GARD:22564 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities -GARD:13539 Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features -GARD:18515 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia -GARD:16232 Neurodevelopmental disorder with involuntary movements -GARD:22576 Neurodevelopmental disorder with microcephaly, ataxia, and seizures -GARD:18534 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities -GARD:18535 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities -GARD:18532 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy -GARD:18540 Neurodevelopmental disorder with or without autism or seizures -GARD:18539 Neurodevelopmental disorder with or without early-onset generalized epilepsy -GARD:13686 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant -GARD:18502 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy -GARD:16123 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities -GARD:18531 Neurodevelopmental disorder with seizures and brain atrophy -GARD:18524 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities -GARD:16130 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities -GARD:18530 Neurodevelopmental disorder with speech impairment and dysmorphic facies -GARD:17785 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome -GARD:21526 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion -GARD:13418 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation -GARD:18523 Neurodevelopmental, jaw, eye, and digital syndrome -GARD:16630 Neuroectodermal melanolysosomal disease -GARD:22056 Neuroendocrine carcinoma of pancreas -GARD:20517 Neuroendocrine cell hyperplasia of infancy -GARD:9316 Neuroendocrine neoplasm -GARD:19754 Neuroendocrine neoplasm of appendix -GARD:22058 Neuroendocrine neoplasm of esophagus -GARD:22052 Neuroendocrine neoplasm of pancreas -GARD:19757 Neuroendocrine tumor of anal canal -GARD:13034 Neuroendocrine tumor of pancreas -GARD:19750 Neuroendocrine tumor of stomach -GARD:19755 Neuroendocrine tumor of the colon -GARD:19756 Neuroendocrine tumor of the rectum -GARD:21765 Neuroendocrine tumor of the small intestine -GARD:19768 Neuroendocrine tumor with other location -GARD:3964 Neurofaciodigitorenal syndrome -GARD:10686 Neuroferritinopathy -GARD:7191 Neurofibroma -GARD:7866 Neurofibromatosis type 1 -GARD:17570 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion -GARD:7193 Neurofibromatosis type 2 -GARD:3967 Neurofibromatosis type 6 -GARD:15094 Neurofibromatosis, type iii, mixed central and peripheral -GARD:372 Neurofibromatosis-Noonan syndrome -GARD:790 Neurogenic arthrogryposis multiplex congenita -GARD:10312 Neurogenic scapuloperoneal syndrome, Kaeser type -GARD:19749 Neurogenic thoracic outlet syndrome -GARD:7195 Neuroleptic malignant syndrome -GARD:19574 Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect -GARD:19573 Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect -GARD:19570 Neurological channelopathy of the central nervous system due to a genetic calcium channel defect -GARD:22219 Neurological channelopathy of the central nervous system due to a genetic chloride channel defect -GARD:19572 Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect -GARD:19571 Neurological channelopathy of the central nervous system due to a genetic potassium channel defect -GARD:19569 Neurological channelopathy of the central nervous system due to a genetic sodium channel defect -GARD:9741 Neurological conditions associated with aminoacylase 1 deficiency -GARD:19565 Neurological muscular channelopathy due to a genetic calcium channel defect -GARD:19564 Neurological muscular channelopathy due to a genetic chloride channel defect -GARD:19566 Neurological muscular channelopathy due to a genetic potassium channel defect -GARD:19567 Neurological muscular channelopathy due to a genetic ryanodine receptor defect -GARD:19563 Neurological muscular channelopathy due to a genetic sodium channel defect -GARD:20354 Neurolymphomatosis -GARD:18890 Neurometabolic disease -GARD:18815 Neurometabolic disorder due to serine deficiency -GARD:18888 Neuromuscular disease -GARD:20526 Neuromuscular disease with dilated cardiomyopathy -GARD:19473 Neuromuscular junction disease -GARD:6267 Neuromyelitis optica spectrum disorder -GARD:22372 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies -GARD:22373 Neuromyelitis optica spectrum disorder with anti-MOG antibodies -GARD:22374 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies -GARD:10739 Neuronal ceroid lipofuscinosis -GARD:3928 Neuronal intestinal pseudoobstruction -GARD:3971 Neuronal intranuclear inclusion disease -GARD:20726 Neuronal tumor -GARD:18262 Neuronopathy, distal hereditary motor, type iia -GARD:18263 Neuronopathy, distal hereditary motor, type iib -GARD:18264 Neuronopathy, distal hereditary motor, type iic -GARD:18265 Neuronopathy, distal hereditary motor, type iid -GARD:18266 Neuronopathy, distal hereditary motor, type va -GARD:18267 Neuronopathy, distal hereditary motor, type vb -GARD:18268 Neuronopathy, distal hereditary motor, type vc -GARD:18269 Neuronopathy, distal hereditary motor, type viia -GARD:18270 Neuronopathy, distal hereditary motor, type viib -GARD:19919 Neuropathy with hearing impairment -GARD:18567 Neuropathy, congenital hypomyelinating, 3 -GARD:18091 Neuropathy, hereditary motor and sensory, type via, with optic atrophy -GARD:18092 Neuropathy, hereditary motor and sensory, type vib, with optic atrophy -GARD:18444 Neuropathy, hereditary motor, with myopathic features -GARD:15095 Neuropathy, hereditary sensory and autonomic, type ia -GARD:15683 Neuropathy, hereditary sensory and autonomic, type ic -GARD:15129 Neuropathy, hereditary sensory and autonomic, type iia -GARD:15618 Neuropathy, hereditary sensory and autonomic, type iib -GARD:15695 Neuropathy, hereditary sensory, type id -GARD:15995 Neuropathy, hereditary sensory, type if -GARD:15774 Neuropathy, hereditary sensory, type iic -GARD:19878 Neurotrophic keratopathy -GARD:19819 Neurovascular malformation -GARD:3262 Neutral lipid storage disease -GARD:3979 Neutral lipid storage disease with ichthyosis -GARD:10288 Neutral lipid storage myopathy -GARD:6107 Neutropenia, lethal congenital, with eosinophilia -GARD:15616 Neutropenia, severe congenital, 2, autosomal dominant -GARD:16375 Neutropenia, severe congenital, 8, autosomal dominant -GARD:3982 Neutropenia-monocytopenia-deafness syndrome -GARD:17087 Neutrophil immunodeficiency syndrome -GARD:13073 Nevus comedonicus syndrome -GARD:10830 Nevus of Ito -GARD:20901 Nevus of Ota -GARD:12244 New-onset refractory status epilepticus -GARD:270 Nicolaides-Baraitser syndrome -GARD:7207 Niemann-Pick disease type C -GARD:20508 Niemann-Pick disease type C, adult neurologic onset -GARD:20507 Niemann-Pick disease type C, juvenile neurologic onset -GARD:20506 Niemann-Pick disease type C, late infantile neurologic onset -GARD:20505 Niemann-Pick disease type C, severe early infantile neurologic onset -GARD:20504 Niemann-Pick disease type C, severe perinatal form -GARD:15488 Night blindness, congenital stationary, autosomal dominant 1 -GARD:15096 Night blindness, congenital stationary, autosomal dominant 2 -GARD:15487 Night blindness, congenital stationary, autosomal dominant 3 -GARD:15306 Night blindness, congenital stationary, type 1a -GARD:15212 Night blindness, congenital stationary, type 1b -GARD:15631 Night blindness, congenital stationary, type 1c -GARD:15721 Night blindness, congenital stationary, type 1d -GARD:15816 Night blindness, congenital stationary, type 1e -GARD:15899 Night blindness, congenital stationary, type 1f -GARD:16099 Night blindness, congenital stationary, type 1g -GARD:16177 Night blindness, congenital stationary, type 1h -GARD:15251 Night blindness, congenital stationary, type 2a -GARD:16364 Night blindness, congenital stationary, type1i -GARD:3994 Night blindness-skeletal anomalies-dysmorphism syndrome -GARD:3904 Nijmegen breakage syndrome -GARD:17184 Nijmegen breakage syndrome-like disorder -GARD:19689 Nipah virus disease -GARD:7210 Nocardiosis -GARD:19075 Nodal marginal zone B-cell lymphoma -GARD:10562 Nodular cutaneous amyloidosis -GARD:21959 Nodular fasciitis -GARD:19137 Nodular lichen myxedematosus -GARD:19079 Nodular lymphocyte predominant Hodgkin lymphoma -GARD:16586 Nodular neuronal heterotopia -GARD:7879 Nodular non-suppurative panniculitis -GARD:10929 Nodular regenerative hyperplasia of the liver -GARD:20035 Nodular urticaria pigmentosa -GARD:4001 Noma -GARD:21278 Non progressive epilepsy and/or ataxia with myoclonus as a major feature -GARD:21185 Non syndromic limb overgrowth -GARD:10949 Non-24-hour sleep-wake syndrome -GARD:11953 Non-Hodgkin lymphoma -GARD:8231 Non-Langerhans cell histiocytosis -GARD:20140 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations -GARD:2252 Non-acquired combined pituitary hormone deficiency -GARD:10603 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome -GARD:12556 Non-acquired isolated growth hormone deficiency -GARD:15020 Non-acquired panhypopituitarism -GARD:19272 Non-acquired pituitary hormone deficiency -GARD:19294 Non-acquired premature ovarian failure -GARD:12740 Non-amyloid fibrillary glomerulopathy -GARD:19073 Non-amyloid monoclonal immunoglobulin deposition disease -GARD:21137 Non-central nervous system-localized embryonal carcinoma -GARD:21474 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency -GARD:18729 Non-distal monosomy 10q -GARD:19330 Non-distal monosomy 12q -GARD:18737 Non-distal trisomy 10q -GARD:18738 Non-distal trisomy 13q -GARD:19323 Non-distal trisomy 9q -GARD:20363 Non-dystrophic myopathy -GARD:1862 Non-epidermolytic palmoplantar keratoderma -GARD:5027 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome -GARD:20530 Non-familial dilated cardiomyopathy -GARD:20524 Non-familial hypertrophic cardiomyopathy -GARD:21452 Non-familial rare disease with dilated cardiomyopathy -GARD:20535 Non-familial restrictive cardiomyopathy -GARD:22054 Non-functioning neuroendocrine tumor of pancreas -GARD:19248 Non-functioning paraganglioma -GARD:19159 Non-functioning pituitary adenoma -GARD:20537 Non-genetic cardiac rhythm disease -GARD:22291 Non-genetic systemic disease with glomerulopathy as a major feature -GARD:20655 Non-hereditary degenerative ataxia -GARD:17545 Non-hereditary retinoblastoma -GARD:18701 Non-histaminic angioedema -GARD:21495 Non-hypoproteinemic hypertrophic gastropathy -GARD:17580 Non-immune hydrops fetalis -GARD:21260 Non-infectious anterior uveitis -GARD:19111 Non-infectious posterior uveitis -GARD:22014 Non-inflammatory vasculopathy -GARD:21056 Non-insulinoma pancreatogenous hypoglycemia syndrome -GARD:10890 Non-involuting congenital hemangioma -GARD:20447 Non-papillary transitional cell carcinoma of the bladder -GARD:20413 Non-paraneoplastic sensory ganglionopathy -GARD:17429 Non-progressive cerebellar ataxia with intellectual disability -GARD:21819 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy -GARD:21826 Non-recovering obstetric brachial plexus lesion -GARD:18679 Non-rhizomelic chondrodysplasia punctata -GARD:17561 Non-seminomatous germ cell tumor of testis -GARD:21981 Non-severe combined immunodeficiency -GARD:22500 Non-specific autoimmune brainstem encephalitis with characteristic antibodies -GARD:22501 Non-specific autoimmune brainstem encephalitis without characteristic antibodies -GARD:22503 Non-specific autoimmune cerebellar ataxia with characteristic antibodies -GARD:22504 Non-specific autoimmune cerebellar ataxia without characteristic antibodies -GARD:22497 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies -GARD:22498 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies -GARD:15028 Non-specific early-onset epileptic encephalopathy -GARD:19167 Non-specific interstitial pneumonia -GARD:17965 Non-specific syndromic intellectual disability -GARD:3672 Non-spherocytic hemolytic anemia due to hexokinase deficiency -GARD:16534 Non-syndromic anorectal malformation -GARD:22433 Non-syndromic anorectal malformation with H-type fistula -GARD:22428 Non-syndromic anorectal malformation with anal stenosis -GARD:22420 Non-syndromic anorectal malformation with perineal fistula -GARD:22429 Non-syndromic anorectal malformation with pouch colon -GARD:22430 Non-syndromic anorectal malformation with rectal atresia -GARD:22431 Non-syndromic anorectal malformation with rectal stenosis -GARD:22421 Non-syndromic anorectal malformation with rectourethral fistula -GARD:22422 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type -GARD:22423 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type -GARD:22432 Non-syndromic anorectal malformation with rectovaginal fistula -GARD:22424 Non-syndromic anorectal malformation with rectovesical fistula -GARD:22425 Non-syndromic anorectal malformation with vestibular fistula -GARD:22427 Non-syndromic anorectal malformation without fistula -GARD:22479 Non-syndromic bicoronal and metopic craniosynostosis -GARD:22480 Non-syndromic bicoronal and sagittal craniosynostosis -GARD:16634 Non-syndromic bicoronal craniosynostosis -GARD:1575 Non-syndromic bilambdoid and sagittal craniosynostosis -GARD:22476 Non-syndromic bilambdoid craniosynostosis -GARD:19865 Non-syndromic central nervous system malformation -GARD:20338 Non-syndromic cerebral malformation -GARD:20041 Non-syndromic cerebral malformation due to abnormal neuronal migration -GARD:22426 Non-syndromic cloacal malformation -GARD:22028 Non-syndromic complex polydactyly -GARD:19910 Non-syndromic craniosynostosis -GARD:19863 Non-syndromic diaphragmatic or abdominal wall malformation -GARD:20211 Non-syndromic diaphragmatic or thoracic malformation -GARD:19855 Non-syndromic esophageal malformation -GARD:19857 Non-syndromic gastroduodenal malformation -GARD:19091 Non-syndromic genetic deafness -GARD:19859 Non-syndromic intestinal malformation -GARD:19872 Non-syndromic limb malformation -GARD:19210 Non-syndromic limb reduction defect -GARD:17277 Non-syndromic male infertility due to sperm motility disorder -GARD:22478 Non-syndromic metopic and sagittal craniosynostosis -GARD:16626 Non-syndromic metopic craniosynostosis -GARD:22474 Non-syndromic multisutural craniosynostosis -GARD:22475 Non-syndromic non-specific multisutural craniosynostosis -GARD:22481 Non-syndromic pansynostosis -GARD:4410 Non-syndromic polydactyly -GARD:19211 Non-syndromic polydactyly, syndactyly and/or hyperphalangy -GARD:10977 Non-syndromic pontocerebellar hypoplasia -GARD:22027 Non-syndromic postaxial polydactyly -GARD:16840 Non-syndromic posterior hypospadias -GARD:22026 Non-syndromic preaxial polydactyly -GARD:19217 Non-syndromic renal or urinary tract malformation -GARD:19867 Non-syndromic respiratory or mediastinal malformation -GARD:16633 Non-syndromic sagittal craniosynostosis -GARD:19100 Non-syndromic syndactyly -GARD:22477 Non-syndromic unicoronal and sagittal craniosynostosis -GARD:22470 Non-syndromic unicoronal craniosynostosis -GARD:22472 Non-syndromic unifrontosphenoidal craniosynostosis -GARD:22471 Non-syndromic unilambdoid craniosynostosis -GARD:22473 Non-syndromic unisquamosal craniosynostosis -GARD:22469 Non-syndromic unisutural craniosynostosis -GARD:20063 Non-syndromic urogenital tract malformation -GARD:20251 Non-syndromic urogenital tract malformation of female -GARD:20252 Non-syndromic urogenital tract malformation of male -GARD:20253 Non-syndromic urogenital tract malformation of male and female -GARD:20171 Non-syndromic uterovaginal malformation -GARD:19861 Non-syndromic visceral malformation -GARD:10955 Noonan syndrome -GARD:7223 Noonan syndrome 1 -GARD:16139 Noonan syndrome 10 -GARD:16357 Noonan syndrome 11 -GARD:16369 Noonan syndrome 12 -GARD:16419 Noonan syndrome 13 -GARD:10698 Noonan syndrome 2 -GARD:9885 Noonan syndrome 3 -GARD:10699 Noonan syndrome 4 -GARD:10700 Noonan syndrome 5 -GARD:10701 Noonan syndrome 6 -GARD:15693 Noonan syndrome 7 -GARD:15949 Noonan syndrome 8 -GARD:16137 Noonan syndrome 9 -GARD:19561 Noonan syndrome and Noonan-related syndrome -GARD:1100 Noonan syndrome with multiple lentigines -GARD:17577 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia -GARD:10719 Noonan syndrome-like disorder with loose anagen hair -GARD:16533 Normosmic congenital hypogonadotropic hypogonadism -GARD:7224 Norrie disease -GARD:9179 North Carolina macular dystrophy -GARD:20000 Nose and cavum anomaly -GARD:21393 Null pituitary adenoma -GARD:17292 Null syndrome -GARD:19718 O'Sullivan-McLeod syndrome -GARD:4129 OSLAM syndrome -GARD:17631 Obesity due to CEP19 deficiency -GARD:21580 Obesity due to SIM1 deficiency -GARD:13015 Obesity due to congenital leptin deficiency -GARD:20169 Obesity due to congenital leptin resistance -GARD:17083 Obesity due to leptin receptor gene deficiency -GARD:16690 Obesity due to melanocortin 4 receptor deficiency -GARD:10823 Obesity due to pro-opiomelanocortin deficiency -GARD:16689 Obesity due to prohormone convertase I deficiency -GARD:19092 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome -GARD:19967 Oblique facial cleft -GARD:20969 Occipital encephalocele -GARD:4017 Occipital horn syndrome -GARD:17299 Occipital pachygyria and polymicrogyria -GARD:17200 Occult macular dystrophy -GARD:19704 Occupational allergic alveolitis -GARD:104 Ochoa syndrome -GARD:21124 Ocular albinism -GARD:592 Ocular albinism with late-onset sensorineural deafness -GARD:17915 Ocular anomalies-axonal neuropathy-developmental delay syndrome -GARD:8759 Ocular cicatricial pemphigoid -GARD:9756 Ocular cystinosis -GARD:16 Ocular motor apraxia, Cogan type -GARD:12074 Oculo-auriculo-vertebral spectrum -GARD:16606 Oculo-palato-cerebral syndrome -GARD:16988 Oculoauricular syndrome, Schorderet type -GARD:4031 Oculoauriculofrontonasal syndrome -GARD:3653 Oculoauriculovertebral spectrum with radial defects -GARD:105 Oculocerebral hypopigmentation syndrome, Cross type -GARD:4034 Oculocerebral hypopigmentation syndrome, Preus type -GARD:106 Oculocerebrocutaneous syndrome -GARD:17993 Oculocerebrodental syndrome -GARD:3084 Oculocerebrofacial syndrome, Kaufman type -GARD:3295 Oculocerebrorenal syndrome of Lowe -GARD:10958 Oculocutaneous albinism -GARD:4037 Oculocutaneous albinism type 1 -GARD:16721 Oculocutaneous albinism type 1A -GARD:594 Oculocutaneous albinism type 1B -GARD:4038 Oculocutaneous albinism type 2 -GARD:4039 Oculocutaneous albinism type 3 -GARD:16722 Oculocutaneous albinism type 4 -GARD:17598 Oculocutaneous albinism type 5 -GARD:17599 Oculocutaneous albinism type 6 -GARD:17531 Oculocutaneous albinism type 7 -GARD:18017 Oculocutaneous albinism type 8 -GARD:19548 Oculocutaneous or ocular albinism -GARD:212 Oculodental syndrome, Rutherfurd type -GARD:7239 Oculodentodigital dysplasia -GARD:15213 Oculodentodigital dysplasia, autosomal recessive -GARD:4628 Oculofaciocardiodental syndrome -GARD:5496 Oculogastrointestinal muscular dystrophy -GARD:18024 Oculogastrointestinal-neurodevelopmental syndrome -GARD:4046 Oculomaxillofacial dysostosis -GARD:19547 Oculomotor apraxia -GARD:992 Oculoosteocutaneous syndrome -GARD:16910 Oculootodental syndrome -GARD:7245 Oculopharyngeal muscular dystrophy -GARD:12592 Oculopharyngodistal myopathy -GARD:15097 Oculopharyngodistal myopathy 1 -GARD:16397 Oculopharyngodistal myopathy 2 -GARD:3395 Oculotrichoanal syndrome -GARD:16607 Oculotrichodysplasia -GARD:4051 Odonto-onycho dysplasia-alopecia syndrome -GARD:4054 Odonto-onycho-dermal dysplasia -GARD:16679 Odonto-tricho-ungual-digito-palmar syndrome -GARD:8717 Odontochondrodysplasia -GARD:17194 Odontohypophosphatasia -GARD:9632 Odontoleukodystrophy -GARD:238 Odontomatosis-aortae esophagus stenosis syndrome -GARD:4053 Odontomicronychial dysplasia -GARD:2381 Odontotrichomelic syndrome -GARD:21627 Off-periods in Parkinson disease not responding to oral treatment -GARD:17281 Ogden syndrome -GARD:10118 Oguchi disease -GARD:15660 Oguchi disease 2 -GARD:4064 Okamoto syndrome -GARD:9182 Okihiro syndrome -GARD:20787 Okihiro syndrome due to 20q13 microdeletion -GARD:20788 Okihiro syndrome due to a point mutation -GARD:15008 Okur-Chung neurodevelopmental syndrome (OCNDS) -GARD:4261 Oligoarticular juvenile idiopathic arthritis -GARD:20712 Oligoastrocytic tumor -GARD:9769 Oligoastrocytoma -GARD:18925 Oligocone trichromacy -GARD:13156 Oligodendroglial tumor -GARD:9953 Oligodendroglioma -GARD:16908 Oligodontia -GARD:17376 Oligodontia-cancer predisposition syndrome -GARD:4066 Oligomeganephronia -GARD:18977 Oligosaccharidosis -GARD:4069 Oliver syndrome -GARD:4070 Olivopontocerebellar atrophy-deafness syndrome -GARD:7251 Ollier disease -GARD:15818 Olmsted syndrome 1 -GARD:16437 Olmsted syndrome 2 -GARD:15273 Olmsted syndrome, x-linked -GARD:8198 Omenn syndrome -GARD:16608 Omodysplasia -GARD:16540 Omphalocele -GARD:9850 Omphalocele syndrome, Shprintzen-Goldberg type -GARD:18586 Omphalocele, autosomal -GARD:18587 Omphalocele, x-linked -GARD:10354 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome -GARD:4081 Omphalomesenteric cyst -GARD:8254 Omsk hemorrhagic fever -GARD:7252 Onchocerciasis -GARD:9652 Oncogenic osteomalacia -GARD:11007 Onychocytic matricoma -GARD:21234 Onychomatricoma -GARD:18500 Oocyte maturation defect 10 -GARD:18496 Oocyte maturation defect 2 -GARD:18497 Oocyte maturation defect 4 -GARD:18498 Oocyte maturation defect 8 -GARD:18499 Oocyte maturation defect 9 -GARD:20949 Open iniencephaly -GARD:4365 Ophthalmomandibulomelic dysplasia -GARD:3236 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome -GARD:193 Opitz GBBB syndrome -GARD:4098 Opsismodysplasia -GARD:10009 Opsoclonus-myoclonus syndrome -GARD:15099 Optic atrophy 1 -GARD:18200 Optic atrophy 10 with or without ataxia, mental retardation, and seizures -GARD:18201 Optic atrophy 11 -GARD:16399 Optic atrophy 12 -GARD:15379 Optic atrophy 4 -GARD:10201 Optic atrophy 5 -GARD:10200 Optic atrophy 6 -GARD:16148 Optic atrophy 8 -GARD:18199 Optic atrophy 9 -GARD:15098 Optic atrophy with demyelinating disease of cns -GARD:15057 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy -GARD:402 Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant -GARD:22231 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome -GARD:12903 Optic atrophy-intellectual disability syndrome -GARD:22130 Optic disc pit -GARD:4107 Optic pathway glioma -GARD:18800 Oral erosive lichen -GARD:7264 Oral submucous fibrosis -GARD:22069 Oral-facial-digital syndrome with short stature and brachymesophalangy -GARD:18845 Orbital leiomyoma -GARD:9433 Organic aciduria -GARD:20079 Orgasm-induced seizures -GARD:8391 Ornithine transcarbamylase deficiency -GARD:18306 Orofacial cleft 10 -GARD:18303 Orofacial cleft 11 -GARD:18307 Orofacial cleft 15 -GARD:18305 Orofacial cleft 5 -GARD:18304 Orofacial cleft 6, susceptibility to -GARD:18308 Orofacial cleft 8 -GARD:19908 Orofacial clefting syndrome -GARD:10692 Orofaciodigital syndrome -GARD:4121 Orofaciodigital syndrome type 1 -GARD:4061 Orofaciodigital syndrome type 10 -GARD:4118 Orofaciodigital syndrome type 11 -GARD:10693 Orofaciodigital syndrome type 12 -GARD:10694 Orofaciodigital syndrome type 13 -GARD:13655 Orofaciodigital syndrome type 14 -GARD:3701 Orofaciodigital syndrome type 2 -GARD:10518 Orofaciodigital syndrome type 3 -GARD:816 Orofaciodigital syndrome type 4 -GARD:4120 Orofaciodigital syndrome type 5 -GARD:4412 Orofaciodigital syndrome type 6 -GARD:4060 Orofaciodigital syndrome type 8 -GARD:10520 Orofaciodigital syndrome type 9 -GARD:16197 Orofaciodigital syndrome xv -GARD:19243 Oromandibular dystonia -GARD:19996 Oromandibular-limb anomalies syndrome -GARD:4116 Oromandibular-limb hypogenesis syndrome -GARD:18861 Oroya fever -GARD:19364 Osgood-Schlatter disease -GARD:18921 Ossification anomalies-psychomotor developmental delay syndrome -GARD:18854 Osteoblastoma -GARD:12703 Osteochondritis dissecans -GARD:18776 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome -GARD:12704 Osteochondrosis -GARD:21669 Osteochondrosis of genetic origin -GARD:2380 Osteochondrosis of the metatarsal bone -GARD:6842 Osteochondrosis of the tarsal bone -GARD:21782 Osteoclastic giant cell tumor of pancreas -GARD:3396 Osteocraniostenosis -GARD:10887 Osteofibrous dysplasia -GARD:1017 Osteogenesis imperfecta -GARD:8694 Osteogenesis imperfecta type 1 -GARD:10142 Osteogenesis imperfecta type 2 -GARD:8695 Osteogenesis imperfecta type 3 -GARD:8696 Osteogenesis imperfecta type 4 -GARD:8699 Osteogenesis imperfecta type 5 -GARD:15100 Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures -GARD:10619 Osteogenesis imperfecta, type ix -GARD:8700 Osteogenesis imperfecta, type vi -GARD:8701 Osteogenesis imperfecta, type vii -GARD:10152 Osteogenesis imperfecta, type viii -GARD:12874 Osteogenesis imperfecta, type x -GARD:12875 Osteogenesis imperfecta, type xi -GARD:15722 Osteogenesis imperfecta, type xii -GARD:15856 Osteogenesis imperfecta, type xiii -GARD:15901 Osteogenesis imperfecta, type xiv -GARD:15919 Osteogenesis imperfecta, type xv -GARD:16072 Osteogenesis imperfecta, type xvi -GARD:16126 Osteogenesis imperfecta, type xvii -GARD:587 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome -GARD:4142 Osteoglosphonic dysplasia -GARD:391 Osteomesopyknosis -GARD:21657 Osteonecrosis -GARD:21667 Osteonecrosis of genetic origin -GARD:21663 Osteonecrosis of the jaw -GARD:4148 Osteopathia striata-cranial sclerosis syndrome -GARD:5562 Osteopathia striata-pigmentary dermopathy-white forelock syndrome -GARD:354 Osteopenia-intellectual disability-sparse hair syndrome -GARD:4155 Osteopetrosis and related disorders -GARD:4154 Osteopetrosis with renal tubular acidosis -GARD:5993 Osteopetrosis, autosomal recessive 4 -GARD:2579 Osteopetrosis, autosomal recessive 1 -GARD:4157 Osteopetrosis, autosomal recessive 2 -GARD:4153 Osteopetrosis, autosomal recessive 5 -GARD:15905 Osteopetrosis, autosomal recessive 8 -GARD:10106 Osteopetrosis-hypogammaglobulinemia syndrome -GARD:15218 Osteoporosis, juvenile -GARD:18778 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome -GARD:404 Osteoporosis-oculocutaneous hypopigmentation syndrome -GARD:4160 Osteoporosis-pseudoglioma syndrome -GARD:22138 Osteoradionecrosis of the mandible -GARD:7284 Osteosarcoma -GARD:20147 Osteosclerosis-developmental delay-craniosynostosis syndrome -GARD:9904 Osteosclerosis-ichthyosis-premature ovarian failure syndrome -GARD:17931 Osteosclerotic metaphyseal dysplasia -GARD:19119 Other acquired skin disease -GARD:19010 Other dermis disorder -GARD:18990 Other epidermal disorder -GARD:21970 Other genetic dermis disorder -GARD:18991 Other genetic epidermal disease -GARD:21514 Other immunodeficiency syndrome with predominantly antibody defects -GARD:21509 Other immunodeficiency syndromes due to defects in innate immunity -GARD:19152 Other metabolic disease -GARD:20559 Other metabolic disease with epilepsy -GARD:18978 Other metabolic disease with skin involvement -GARD:20217 Other rare diabetes mellitus -GARD:21001 Other syndrome with a central nervous system malformation as a major feature -GARD:19820 Other syndrome with lissencephaly as a major feature -GARD:4168 Otodental syndrome -GARD:4169 Otofaciocervical syndrome -GARD:16502 Otofaciocervical syndrome 1 -GARD:16503 Otofaciocervical syndrome 2, with t-cell deficiency -GARD:19979 Otomandibular dysplasia -GARD:19994 Otomandibular dysplasia associated with monogenic syndromes -GARD:4170 Otoonychoperoneal syndrome -GARD:21570 Otopalatodigital syndrome spectrum disorder -GARD:5121 Otopalatodigital syndrome type 1 -GARD:5802 Otopalatodigital syndrome type 2 -GARD:4130 Otospondylomegaepiphyseal dysplasia -GARD:7295 Ovarian cancer -GARD:18039 Ovarian dysgenesis 1 -GARD:18040 Ovarian dysgenesis 2 -GARD:18041 Ovarian dysgenesis 3 -GARD:18042 Ovarian dysgenesis 6 -GARD:18043 Ovarian dysgenesis 7 -GARD:21375 Ovarian fibroma -GARD:21376 Ovarian fibrothecoma -GARD:16668 Ovarian hyperstimulation syndrome -GARD:16918 Ovarioleukodystrophy -GARD:22021 Overgrowth or tall stature syndrome with skeletal involvement -GARD:19213 Overgrowth syndrome -GARD:22032 Overgrowth syndrome with 2q37 translocation -GARD:18646 Overgrowth-macrocephaly-facial dysmorphism syndrome -GARD:10066 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome -GARD:19903 Overgrowth/obesity syndrome -GARD:4183 Overhydrated hereditary stomatocytosis -GARD:20352 Overlap myositis -GARD:20696 Overlapping connective tissue disease -GARD:617 Oxoglutaric aciduria -GARD:15005 PACAK-ZHUANG syndrome -GARD:3086 PAGOD syndrome -GARD:7312 PANDAS -GARD:4223 PARC syndrome -GARD:17736 PCNA-related progressive neurodegenerative photosensitivity syndrome -GARD:17742 PDE4D haploinsufficiency syndrome -GARD:4264 PEHO syndrome -GARD:16911 PEHO-like syndrome -GARD:13447 PENS syndrome -GARD:5657 PFAPA syndrome -GARD:4329 PGM1-CDG -GARD:4331 PGM3-CDG -GARD:8338 PHACE syndrome -GARD:4465 PHAVER syndrome -GARD:22367 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome -GARD:22301 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis -GARD:22209 PIK3CA-related overgrowth syndrome -GARD:12567 PLA2G6-associated neurodegeneration -GARD:17960 PLAA-associated neurodevelopmental disorder -GARD:17369 PLCG2-associated antibody deficiency and immune dysregulation -GARD:2148 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement -GARD:22217 PLG-related hereditary angioedema with normal C1Inh -GARD:12601 PLIN1-related familial partial lipodystrophy -GARD:9826 PMM2-CDG -GARD:17851 PMP2-related Charcot-Marie-Tooth disease type 1 -GARD:17859 PMP22-RAI1 contiguous gene duplication syndrome -GARD:7411 POEMS syndrome -GARD:17869 POGLUT1-related limb-girdle muscular dystrophy R21 -GARD:12540 POMGNT1-related limb-girdle muscular dystrophy R15 -GARD:22271 POMGNT2-related limb-girdle muscular dystrophy R24 -GARD:12535 POMT1-related limb-girdle muscular dystrophy R11 -GARD:12539 POMT2-related limb-girdle muscular dystrophy R14 -GARD:12600 PPARG-related familial partial lipodystrophy -GARD:19358 PPoma -GARD:21738 PRKAR1B-related neurodegenerative dementia with intermediate filaments -GARD:17985 PRUNE1-related neurological syndrome -GARD:12800 PTEN hamartoma tumor syndrome -GARD:22351 PUM1-associated developmental disability-ataxia-seizure syndrome -GARD:17739 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome -GARD:17740 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation -GARD:17340 PYCR1-related De Barsy syndrome -GARD:17873 PYCR2-related microcephaly-progressive leukoencephalopathy -GARD:7299 Pachydermoperiostosis -GARD:409 Pachygyria-intellectual disability-epilepsy syndrome -GARD:10753 Pachyonychia congenita -GARD:15102 Pachyonychia congenita 1 -GARD:15103 Pachyonychia congenita 2 -GARD:16005 Pachyonychia congenita 3 -GARD:16006 Pachyonychia congenita 4 -GARD:15219 Pachyonychia congenita, autosomal recessive -GARD:7303 Paget disease of the nipple -GARD:3439 Pai syndrome -GARD:12706 Painful legs and moving toes syndrome -GARD:11006 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome -GARD:17862 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome -GARD:7305 Pallister-Hall syndrome -GARD:9172 Palmoplantar keratoderma i, striate, focal, or diffuse -GARD:16967 Palmoplantar keratoderma, Nagashima type -GARD:18487 Palmoplantar keratoderma, nonepidermolytic, focal 1 -GARD:18488 Palmoplantar keratoderma, nonepidermolytic, focal 2 -GARD:15081 Palmoplantar keratoderma, punctate type ia -GARD:15884 Palmoplantar keratoderma, punctate type ib -GARD:16733 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome -GARD:3094 Palmoplantar keratoderma-deafness syndrome -GARD:3102 Palmoplantar keratoderma-esophageal carcinoma syndrome -GARD:17977 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome -GARD:3095 Palmoplantar keratoderma-spastic paralysis syndrome -GARD:15104 Pancreas, dorsal, agenesis of -GARD:15220 Pancreatic agenesis 1 -GARD:16033 Pancreatic agenesis 2 -GARD:17992 Pancreatic agenesis-holoprosencephaly syndrome -GARD:15401 Pancreatic cancer, susceptibility to, 1 -GARD:15650 Pancreatic cancer, susceptibility to, 2 -GARD:15651 Pancreatic cancer, susceptibility to, 3 -GARD:15788 Pancreatic cancer, susceptibility to, 4 -GARD:17402 Pancreatic colipase deficiency -GARD:347 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome -GARD:17095 Pancreatic insufficiency-anemia-hyperostosis syndrome -GARD:17401 Pancreatic triacylglycerol lipase deficiency -GARD:4210 Pancreatoblastoma -GARD:17442 Pancytopenia due to IKZF1 mutations -GARD:17655 Pancytopenia-developmental delay syndrome -GARD:19285 Panhypophysitis -GARD:6737 Panhypopituitarism, x-linked -GARD:19365 Panner disease -GARD:19128 Panniculitis-induced localized lipodystrophy -GARD:6564 Pantothenate kinase-associated neurodegeneration -GARD:8577 Panuveitis -GARD:20497 Papillary carcinoma of the cervix uteri -GARD:20730 Papillary glioneuronal tumor -GARD:9572 Papillary renal cell carcinoma -GARD:15358 Papillary thyroid microcarcinoma -GARD:20725 Papillary tumor of the pineal region -GARD:4214 Papilloma of choroid plexus -GARD:3100 Papillon-Lefèvre syndrome -GARD:20583 Papular elastorrhexis -GARD:19139 Papular mucinosis of infancy -GARD:20021 Papular xanthoma -GARD:21931 Paracetamol poisoning -GARD:19624 Parachute tricuspid valve -GARD:7323 Paracoccidioidomycosis -GARD:7324 Paragangliomas 1 -GARD:10544 Paragangliomas 2 -GARD:10545 Paragangliomas 3 -GARD:10546 Paragangliomas 4 -GARD:15763 Paragangliomas 5 -GARD:16354 Paragangliomas 6 -GARD:16356 Paragangliomas 7 -GARD:10359 Paralysis agitans, juvenile, of hunt -GARD:19997 Paralytic facial malformation -GARD:19975 Paramedian facial cleft -GARD:16973 Paramedian nasal cleft -GARD:7325 Paramyotonia congenita of Von Eulenburg -GARD:2598 Parana hard skin syndrome -GARD:22493 Paraneoplastic cerebellar degeneration -GARD:22499 Paraneoplastic isolated brainstem encephalitis -GARD:7326 Paraneoplastic neurologic syndrome -GARD:18858 Paraneoplastic pemphigus -GARD:20414 Paraneoplastic sensory ganglionopathy -GARD:21069 Paraneoplastic uveitis -GARD:20615 Paraparetic variant of Guillain-Barré syndrome -GARD:2344 Paraplegia-intellectual disability-hyperkeratosis syndrome -GARD:18806 Paraquat poisoning -GARD:20379 Parasitic myositis -GARD:4222 Parastremmatic dwarfism -GARD:21550 Paratesticular adenocarcinoma -GARD:7329 Parathyroid carcinoma -GARD:21855 Paratyphoid fever -GARD:22295 Parenteral nutrition-associated cholestasis -GARD:20970 Parietal encephalocele -GARD:18051 Parietal foramina 1 -GARD:18053 Parietal foramina 2 -GARD:18052 Parietal foramina 3 -GARD:17207 Parietal foramina with clavicular hypoplasia -GARD:4224 Paris-Trousseau thrombocytopenia -GARD:9787 Parkes Weber syndrome -GARD:18474 Parkinson disease 1, autosomal dominant -GARD:18607 Parkinson disease 10 -GARD:18477 Parkinson disease 11, autosomal dominant, susceptibility to -GARD:18604 Parkinson disease 12 -GARD:18608 Parkinson disease 13, autosomal dominant, susceptibility to -GARD:18478 Parkinson disease 17 -GARD:18479 Parkinson disease 18, autosomal dominant, susceptibility to -GARD:18461 Parkinson disease 19a, juvenile-onset -GARD:9642 Parkinson disease 2, autosomal recessive juvenile -GARD:18462 Parkinson disease 20, early-onset -GARD:18480 Parkinson disease 21 -GARD:18610 Parkinson disease 23, autosomal recessive early-onset -GARD:8578 Parkinson disease 3, autosomal dominant -GARD:18475 Parkinson disease 4, autosomal dominant -GARD:18609 Parkinson disease 5, autosomal dominant, susceptibility to -GARD:18605 Parkinson disease 6, autosomal recessive early-onset -GARD:18606 Parkinson disease 7, autosomal recessive early-onset -GARD:18476 Parkinson disease 8, autosomal dominant -GARD:9239 Parkinson-dementia complex of Guam -GARD:9175 Parkinsonian-pyramidal syndrome -GARD:18028 Parkinsonism with polyneuropathy -GARD:7335 Paroxysmal cold hemoglobinuria -GARD:18721 Paroxysmal dyskinesia -GARD:20340 Paroxysmal dystonia -GARD:16656 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity -GARD:10541 Paroxysmal exertion-induced dyskinesia -GARD:12854 Paroxysmal extreme pain disorder -GARD:10794 Paroxysmal hemicrania -GARD:8721 Paroxysmal kinesigenic dyskinesia -GARD:7337 Paroxysmal nocturnal hemoglobinuria -GARD:15958 Paroxysmal nocturnal hemoglobinuria 2 -GARD:8722 Paroxysmal non-kinesigenic dyskinesia -GARD:15510 Paroxysmal nonkinesigenic dyskinesia 2 -GARD:5692 Partial androgen insensitivity syndrome -GARD:4229 Partial atrioventricular septal defect -GARD:22323 Partial atrioventricular septal defect with ventricular hypoplasia -GARD:22324 Partial atrioventricular septal defect without ventricular hypoplasia -GARD:19422 Partial autosomal monosomy -GARD:19420 Partial autosomal trisomy/tetrasomy -GARD:20172 Partial bilateral aplasia of the Müllerian ducts -GARD:16574 Partial chromosome Y deletion -GARD:21707 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome -GARD:19607 Partial cryptophthalmia -GARD:19118 Partial deep dermal and full thickness burns -GARD:20789 Partial deletion of chromosome 1 -GARD:20798 Partial deletion of chromosome 10 -GARD:20799 Partial deletion of chromosome 11 -GARD:21115 Partial deletion of chromosome 12 -GARD:20801 Partial deletion of chromosome 16 -GARD:20802 Partial deletion of chromosome 17 -GARD:20803 Partial deletion of chromosome 18 -GARD:20804 Partial deletion of chromosome 19 -GARD:20790 Partial deletion of chromosome 2 -GARD:20805 Partial deletion of chromosome 20 -GARD:20791 Partial deletion of chromosome 3 -GARD:20792 Partial deletion of chromosome 4 -GARD:20793 Partial deletion of chromosome 5 -GARD:20794 Partial deletion of chromosome 6 -GARD:20795 Partial deletion of chromosome 7 -GARD:20796 Partial deletion of chromosome 8 -GARD:20797 Partial deletion of chromosome 9 -GARD:20911 Partial deletion of chromosome X -GARD:20821 Partial deletion of the long arm of chromosome 1 -GARD:20831 Partial deletion of the long arm of chromosome 11 -GARD:20800 Partial deletion of the long arm of chromosome 12 -GARD:20832 Partial deletion of the long arm of chromosome 13 -GARD:20833 Partial deletion of the long arm of chromosome 14 -GARD:20834 Partial deletion of the long arm of chromosome 15 -GARD:20835 Partial deletion of the long arm of chromosome 16 -GARD:20836 Partial deletion of the long arm of chromosome 17 -GARD:20837 Partial deletion of the long arm of chromosome 18 -GARD:20838 Partial deletion of the long arm of chromosome 19 -GARD:20822 Partial deletion of the long arm of chromosome 2 -GARD:20839 Partial deletion of the long arm of chromosome 20 -GARD:20840 Partial deletion of the long arm of chromosome 21 -GARD:20841 Partial deletion of the long arm of chromosome 22 -GARD:20823 Partial deletion of the long arm of chromosome 3 -GARD:20824 Partial deletion of the long arm of chromosome 4 -GARD:20825 Partial deletion of the long arm of chromosome 5 -GARD:20826 Partial deletion of the long arm of chromosome 6 -GARD:20827 Partial deletion of the long arm of chromosome 7 -GARD:20828 Partial deletion of the long arm of chromosome 8 -GARD:20915 Partial deletion of the long arm of chromosome X -GARD:20806 Partial deletion of the short arm of chromosome 1 -GARD:20814 Partial deletion of the short arm of chromosome 10 -GARD:20815 Partial deletion of the short arm of chromosome 11 -GARD:21404 Partial deletion of the short arm of chromosome 12 -GARD:20816 Partial deletion of the short arm of chromosome 16 -GARD:20818 Partial deletion of the short arm of chromosome 18 -GARD:20819 Partial deletion of the short arm of chromosome 19 -GARD:20807 Partial deletion of the short arm of chromosome 2 -GARD:37 Partial deletion of the short arm of chromosome 3 -GARD:20808 Partial deletion of the short arm of chromosome 4 -GARD:20809 Partial deletion of the short arm of chromosome 5 -GARD:20810 Partial deletion of the short arm of chromosome 6 -GARD:20811 Partial deletion of the short arm of chromosome 7 -GARD:20812 Partial deletion of the short arm of chromosome 8 -GARD:20813 Partial deletion of the short arm of chromosome 9 -GARD:20842 Partial duplication of chromosome 1 -GARD:20851 Partial duplication of chromosome 10 -GARD:20852 Partial duplication of chromosome 11 -GARD:20854 Partial duplication of chromosome 16 -GARD:20855 Partial duplication of chromosome 17 -GARD:20857 Partial duplication of chromosome 19 -GARD:20843 Partial duplication of chromosome 2 -GARD:20844 Partial duplication of chromosome 3 -GARD:20845 Partial duplication of chromosome 4 -GARD:20847 Partial duplication of chromosome 6 -GARD:20848 Partial duplication of chromosome 7 -GARD:20849 Partial duplication of chromosome 8 -GARD:20916 Partial duplication of chromosome X -GARD:20872 Partial duplication of the long arm of chromosome 1 -GARD:20881 Partial duplication of the long arm of chromosome 10 -GARD:20882 Partial duplication of the long arm of chromosome 11 -GARD:20883 Partial duplication of the long arm of chromosome 13 -GARD:20884 Partial duplication of the long arm of chromosome 14 -GARD:20885 Partial duplication of the long arm of chromosome 15 -GARD:20887 Partial duplication of the long arm of chromosome 17 -GARD:20889 Partial duplication of the long arm of chromosome 19 -GARD:20873 Partial duplication of the long arm of chromosome 2 -GARD:20891 Partial duplication of the long arm of chromosome 22 -GARD:20874 Partial duplication of the long arm of chromosome 3 -GARD:20875 Partial duplication of the long arm of chromosome 4 -GARD:20877 Partial duplication of the long arm of chromosome 6 -GARD:20878 Partial duplication of the long arm of chromosome 7 -GARD:20879 Partial duplication of the long arm of chromosome 8 -GARD:20917 Partial duplication of the long arm of chromosome X -GARD:20919 Partial duplication of the short arm of chromosome 1 -GARD:20867 Partial duplication of the short arm of chromosome 10 -GARD:20868 Partial duplication of the short arm of chromosome 11 -GARD:20869 Partial duplication of the short arm of chromosome 16 -GARD:20870 Partial duplication of the short arm of chromosome 17 -GARD:21876 Partial duplication of the short arm of chromosome 19 -GARD:20859 Partial duplication of the short arm of chromosome 2 -GARD:20860 Partial duplication of the short arm of chromosome 3 -GARD:20861 Partial duplication of the short arm of chromosome 4 -GARD:20863 Partial duplication of the short arm of chromosome 6 -GARD:20864 Partial duplication of the short arm of chromosome 7 -GARD:20865 Partial duplication of the short arm of chromosome 8 -GARD:12421 Partial duplication of the short arm of chromosome X -GARD:20749 Partial hydatidiform mole -GARD:20830 Partial monosomy of the long arm of chromosome 10 -GARD:20829 Partial monosomy of the long arm of chromosome 9 -GARD:20817 Partial monosomy of the short arm of chromosome 17 -GARD:20820 Partial monosomy of the short arm of chromosome 20 -GARD:20912 Partial monosomy of the short arm of chromosome X -GARD:4203 Partial pancreatic agenesis -GARD:20182 Partial septate uterus -GARD:20858 Partial trisomy of chromosome 20 -GARD:20886 Partial trisomy of the long arm of chromosome 16 -GARD:20888 Partial trisomy of the long arm of chromosome 18 -GARD:20890 Partial trisomy of the long arm of chromosome 20 -GARD:20876 Partial trisomy of the long arm of chromosome 5 -GARD:20880 Partial trisomy of the long arm of chromosome 9 -GARD:20856 Partial trisomy/tetrasomy of chromosome 18 -GARD:20846 Partial trisomy/tetrasomy of chromosome 5 -GARD:20850 Partial trisomy/tetrasomy of chromosome 9 -GARD:20853 Partial trisomy/tetrasomy of the short arm of chromosome 12 -GARD:20871 Partial trisomy/tetrasomy of the short arm of chromosome 18 -GARD:20862 Partial trisomy/tetrasomy of the short arm of chromosome 5 -GARD:20866 Partial trisomy/tetrasomy of the short arm of chromosome 9 -GARD:21911 Partially involuting congenital hemangioma -GARD:4235 Partington syndrome -GARD:8709 Patella aplasia/hypoplasia -GARD:19209 Patellar dysostosis -GARD:7342 Patent ductus arteriosus 1 -GARD:18489 Patent ductus arteriosus 2 -GARD:18490 Patent ductus arteriosus 3 -GARD:17148 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome -GARD:21798 Patent urachus -GARD:20777 Paternal 20q13.2q13.3 microdeletion syndrome -GARD:19425 Paternal uniparental disomy -GARD:20688 Paternal uniparental disomy of chromosome 1 -GARD:19678 Paternal uniparental disomy of chromosome 13 -GARD:19343 Paternal uniparental disomy of chromosome 20 -GARD:19344 Paternal uniparental disomy of chromosome 21 -GARD:19339 Paternal uniparental disomy of chromosome 5 -GARD:19340 Paternal uniparental disomy of chromosome 6 -GARD:19341 Paternal uniparental disomy of chromosome 7 -GARD:20784 Paternal uniparental disomy of chromosome X -GARD:9821 Pattern dystrophy -GARD:4260 Patterson-Stevenson-Fontaine syndrome -GARD:19175 Pauci-immune glomerulonephritis -GARD:19379 Pauci-immune glomerulonephritis with ANCA -GARD:19380 Pauci-immune glomerulonephritis without ANCA -GARD:7343 Pearson syndrome -GARD:374 Pectus excavatum-macrocephaly-dysplastic nails syndrome -GARD:21824 Pediatric arterial ischemic stroke -GARD:21998 Pediatric collagenous gastritis -GARD:9331 Pediatric hepatocellular carcinoma -GARD:10443 Pediatric multiple sclerosis -GARD:19219 Pediatric systemic lupus erythematosus -GARD:22190 Pediatric-onset Graves disease -GARD:22188 Pediatric-onset glaucoma -GARD:2486 Pediatric-onset glaucoma of genetic origin -GARD:7347 Peeling skin syndrome -GARD:18426 Peeling skin syndrome 4 -GARD:18427 Peeling skin syndrome 5 -GARD:17258 Peeling skin syndrome type A -GARD:17259 Peeling skin syndrome type B -GARD:20904 Peeling skin syndrome type C -GARD:17764 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome -GARD:4265 Pelizaeus-Merzbacher disease -GARD:21075 Pelizaeus-Merzbacher disease in female carriers -GARD:21073 Pelizaeus-Merzbacher disease, classic form -GARD:17291 Pelizaeus-Merzbacher disease, connatal form -GARD:21074 Pelizaeus-Merzbacher disease, transitional form -GARD:12300 Pelizaeus-Merzbacher-like disease -GARD:4266 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation -GARD:17293 Pelizaeus-Merzbacher-like disease due to GJC2 mutation -GARD:17294 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation -GARD:10014 Pellagra -GARD:11895 Pellucid marginal degeneration -GARD:4269 Pelvic dysplasia-arthrogryposis of lower limbs syndrome -GARD:16611 Pelvis-shoulder dysplasia -GARD:1555 Pelviscapular dysplasia -GARD:6497 Pemphigoid gestationis -GARD:19022 Pemphigus erythematosus -GARD:7354 Pemphigus foliaceus -GARD:19021 Pemphigus vegetans -GARD:7355 Pemphigus vulgaris -GARD:4270 Pemphigus vulgaris, familial -GARD:4271 Pendred syndrome -GARD:4272 Penile agenesis -GARD:4273 Penoscrotal transposition -GARD:7359 Pentalogy of Cantrell -GARD:5678 Pentasomy X -GARD:418 Pentosuria -GARD:18278 Perching syndrome -GARD:18780 Pericardial and diaphragmatic defect -GARD:17191 Perinatal lethal hypophosphatasia -GARD:9258 Perineural cyst -GARD:12698 Perineurioma -GARD:19812 Periodic fever syndrome -GARD:21458 Periodic fever syndrome of childhood -GARD:17725 Periodic fever-infantile enterocolitis-autoinflammatory syndrome -GARD:20374 Periodic paralysis -GARD:21634 Periodic paralysis with later-onset distal motor neuropathy -GARD:21635 Periodic paralysis with transient compartment-like syndrome -GARD:12474 Periodontal Ehlers-Danlos syndrome -GARD:19915 Perioral myoclonia with absences -GARD:22128 Peripapillary staphyloma -GARD:220 Peripartum cardiomyopathy -GARD:17004 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease -GARD:2015 Peripheral dysostosis -GARD:3791 Peripheral motor neuropathy-dysautonomia syndrome -GARD:20417 Peripheral neuropathy associated with monoclonal gammopathy -GARD:17639 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome -GARD:17601 Peripheral primitive neuroectodermal tumor -GARD:4589 Peripheral pulmonary stenosis -GARD:10777 Peritoneal cystic mesothelioma -GARD:22383 Perivascular epithelioid cell neoplasm -GARD:15424 Periventricular heterotopia with microcephaly, autosomal recessive -GARD:12724 Periventricular nodular heterotopia -GARD:7371 Periventricular nodular heterotopia 1 -GARD:15425 Periventricular nodular heterotopia 3 -GARD:15983 Periventricular nodular heterotopia 6 -GARD:16210 Periventricular nodular heterotopia 7 -GARD:16303 Periventricular nodular heterotopia 8 -GARD:16394 Periventricular nodular heterotopia 9 -GARD:19189 Perlecan-related bone disorder -GARD:3936 Perlman syndrome -GARD:20560 Permanent congenital hypothyroidism -GARD:16670 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome -GARD:4543 Peroxisomal acyl-CoA oxidase deficiency -GARD:12470 Peroxisomal beta-oxidation disorder -GARD:18885 Peroxisomal disease -GARD:20551 Peroxisomal disease with epilepsy -GARD:11890 Peroxisome biogenesis disorder -GARD:15873 Peroxisome biogenesis disorder 10a (zellweger) -GARD:15874 Peroxisome biogenesis disorder 11a (zellweger) -GARD:15875 Peroxisome biogenesis disorder 11b -GARD:15876 Peroxisome biogenesis disorder 12a (zellweger) -GARD:15877 Peroxisome biogenesis disorder 13a (zellweger) -GARD:15881 Peroxisome biogenesis disorder 14b -GARD:15149 Peroxisome biogenesis disorder 2a (zellweger) -GARD:15134 Peroxisome biogenesis disorder 2b -GARD:15858 Peroxisome biogenesis disorder 3a (zellweger) -GARD:15226 Peroxisome biogenesis disorder 3b -GARD:15859 Peroxisome biogenesis disorder 4a (zellweger) -GARD:15860 Peroxisome biogenesis disorder 4b -GARD:15861 Peroxisome biogenesis disorder 5a (zellweger) -GARD:15862 Peroxisome biogenesis disorder 5b -GARD:15864 Peroxisome biogenesis disorder 6a (zellweger) -GARD:15865 Peroxisome biogenesis disorder 6b -GARD:15866 Peroxisome biogenesis disorder 7a (zellweger) -GARD:15867 Peroxisome biogenesis disorder 7b -GARD:15869 Peroxisome biogenesis disorder 8a (zellweger) -GARD:15870 Peroxisome biogenesis disorder 8b -GARD:15871 Peroxisome biogenesis disorder 9b -GARD:2542 Perrault syndrome -GARD:15882 Perrault syndrome 2 -GARD:15760 Perrault syndrome 3 -GARD:15943 Perrault syndrome 4 -GARD:16062 Perrault syndrome 5 -GARD:16237 Perrault syndrome 6 -GARD:10453 Perry syndrome -GARD:8435 Persistent Müllerian duct syndrome -GARD:21628 Persistent combined dystonia -GARD:19661 Persistent eustachian valve -GARD:19636 Persistent fifth aortic arch -GARD:16803 Persistent hyperplastic primary vitreous -GARD:18168 Persistent hyperplastic primary vitreous, autosomal dominant -GARD:18167 Persistent hyperplastic primary vitreous, autosomal recessive -GARD:21649 Persistent idiopathic facial pain -GARD:19652 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium -GARD:19654 Persistent left superior vena cava connecting to the roof of left-sided atrium -GARD:19369 Persistent placoid maculopathy -GARD:17366 Persistent polyclonal B-cell lymphocytosis -GARD:7377 Peters anomaly -GARD:8422 Peters plus syndrome -GARD:7378 Peutz-Jeghers syndrome -GARD:7380 Pfeiffer syndrome -GARD:16807 Pfeiffer syndrome type 1 -GARD:16808 Pfeiffer syndrome type 2 -GARD:16809 Pfeiffer syndrome type 3 -GARD:4305 Pfeiffer-Palm-Teller syndrome -GARD:20443 Phacoanaphylactic uveitis -GARD:19023 Phakomatosis cesioflammea -GARD:19024 Phakomatosis cesiomarmorata -GARD:4311 Phakomatosis pigmentokeratotica -GARD:4312 Phakomatosis pigmentovascularis -GARD:19025 Phakomatosis spilorosea -GARD:21524 Phalangeal microgeodic syndrome -GARD:20614 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome -GARD:4315 Phenobarbital embryopathy -GARD:7383 Phenylketonuria -GARD:15105 Pheochromocytoma -GARD:22315 Pheochromocytoma-paraganglioma -GARD:9212 Phocomelia, Schinzel type -GARD:4323 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome -GARD:16613 Phosphoenolpyruvate carboxykinase deficiency -GARD:4278 Phosphoenolpyruvate carboxykinase deficiency, cytosolic -GARD:4279 Phosphoenolpyruvate carboxykinase deficiency, mitochondrial -GARD:4337 Phosphoribosylpyrophosphate synthetase superactivity -GARD:13273 Phosphoserine aminotransferase deficiency, infantile/juvenile form -GARD:15065 Photoparoxysmal response 1 -GARD:15463 Photoparoxysmal response 2 -GARD:15464 Photoparoxysmal response 3 -GARD:5648 Photosensitive epilepsy -GARD:9514 Phyllodes tumor of the breast -GARD:9404 Phyllodes tumor of the prostate -GARD:5133 Piebald trait-neurologic defects syndrome -GARD:4344 Piebaldism -GARD:17885 Pierpont syndrome -GARD:19896 Pierre Robin syndrome associated with a chromosomal anomaly -GARD:19898 Pierre Robin syndrome associated with bone disease -GARD:19897 Pierre Robin syndrome associated with branchial archs anomalies -GARD:19894 Pierre Robin syndrome associated with collagen disease -GARD:1274 Pierre Robin syndrome-faciodigital anomaly syndrome -GARD:10090 Pierre robin sequence with pectus excavatum and rib and scapular anomalies -GARD:9420 Pierson syndrome -GARD:16924 Pigeon-breeder lung disease -GARD:19003 Pigmentation anomaly of the skin -GARD:17776 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome -GARD:18620 Pigmented nodular adrenocortical disease, primary, 1 -GARD:15489 Pigmented nodular adrenocortical disease, primary, 2 -GARD:15769 Pigmented nodular adrenocortical disease, primary, 3 -GARD:16016 Pigmented nodular adrenocortical disease, primary, 4 -GARD:17208 Pigmented paravenous retinochoroidal atrophy -GARD:18703 Pili bifurcati -GARD:19026 Pili gemini -GARD:4361 Pili torti -GARD:4362 Pili torti-developmental delay-neurological abnormalities syndrome -GARD:4364 Pili torti-onychodysplasia syndrome -GARD:9808 Pilocytic astrocytoma -GARD:277 Pilodental dysplasia-refractive errors syndrome -GARD:22042 Pilomatrix carcinoma -GARD:9452 Pilomatrixoma -GARD:20710 Pilomyxoid astrocytoma -GARD:10644 Pineal parenchymal tumor of intermediate differenciation -GARD:20724 Pineal tumor of neuroepithelial tissue -GARD:9369 Pineoblastoma -GARD:8207 Pineocytoma -GARD:19999 Pinnae and external auditory canal anomaly -GARD:19974 Pinnae fistula or cyst -GARD:4372 Pitt-Hopkins syndrome -GARD:20711 Pituicytoma -GARD:19680 Pituitary adenoma -GARD:15274 Pituitary adenoma 2, growth hormone-secreting -GARD:19287 Pituitary apoplexy -GARD:9371 Pituitary carcinoma -GARD:19801 Pituitary deficiency -GARD:19160 Pituitary deficiency due to Rathke cleft cysts -GARD:19163 Pituitary deficiency due to empty sella turcica syndrome -GARD:19161 Pituitary dermoid and epidermoid cysts -GARD:6506 Pituitary gigantism -GARD:19280 Pituitary hormone deficiency of meningeal origin -GARD:19279 Pituitary hormone deficiency of tumoral origin -GARD:19286 Pituitary hormone deficiency of vascular origin -GARD:19288 Pituitary hormone deficiency secondary to a granulomatous disease -GARD:19289 Pituitary hormone deficiency secondary to storage disease -GARD:10601 Pituitary hormone deficiency, combined 1 -GARD:15222 Pituitary hormone deficiency, combined, 2 -GARD:16520 Pituitary hormone deficiency, combined, 6 -GARD:13209 Pituitary stalk interruption syndrome -GARD:21253 Pituitary tumor -GARD:7401 Pityriasis rubra pilaris -GARD:21823 Placental insufficiency -GARD:7403 Placental site trophoblastic tumor -GARD:18702 Plague -GARD:20034 Plaque-form urticaria pigmentosa -GARD:9373 Plasma cell leukemia -GARD:19440 Plasma cell tumor -GARD:12125 Plasmablastic lymphoma -GARD:13446 Plasmacytoma -GARD:21835 Plastic bronchitis -GARD:15329 Platelet disorder, familial, with associated myeloid malignancy -GARD:4382 Platyspondylic dysplasia, Torrance type -GARD:12542 Plectin-related limb-girdle muscular dystrophy R17 -GARD:19719 Pleomorphic liposarcoma -GARD:21165 Pleomorphic rhabdomyosarcoma -GARD:17789 Pleomorphic salivary gland adenoma -GARD:10631 Pleomorphic xanthoastrocytoma -GARD:21879 Pleural empyema -GARD:7026 Pleural mesothelioma -GARD:19668 Pleuro-pericardial cyst -GARD:8757 Pleuropulmonary blastoma -GARD:10734 Pleuropulmonary blastoma familial tumor susceptibility syndrome -GARD:19715 Pleuropulmonary blastoma type 1 -GARD:19716 Pleuropulmonary blastoma type 2 -GARD:19717 Pleuropulmonary blastoma type 3 -GARD:8259 Plummer-Vinson syndrome -GARD:18849 Pneumococcal meningitis -GARD:20245 Pneumoconiosis -GARD:4386 Pneumocystosis -GARD:13613 Pneumonia caused by Pseudomonas aeruginosa infection -GARD:4085 Poikiloderma with neutropenia -GARD:7412 Poland syndrome -GARD:7413 Poliomyelitis -GARD:7360 Polyarteritis nodosa -GARD:21729 Polyarticular juvenile idiopathic arthritis -GARD:21887 Polyclonal hyperviscosity syndrome -GARD:18597 Polycystic kidney disease 1 with or without polycystic liver disease -GARD:18599 Polycystic kidney disease 2 with or without polycystic liver disease -GARD:18598 Polycystic kidney disease 3 with or without polycystic liver disease -GARD:6168 Polycystic kidney disease 4 with or without polycystic liver disease -GARD:16242 Polycystic kidney disease 5 -GARD:16174 Polycystic liver disease 2 with or without kidney cysts -GARD:19466 Polycythemia -GARD:7422 Polycythemia vera -GARD:4417 Polydactyly of a biphalangeal thumb -GARD:5289 Polydactyly of a triphalangeal thumb -GARD:2256 Polydactyly of an index finger -GARD:4414 Polydactyly, postaxial, type a1 -GARD:18178 Polydactyly, postaxial, type a10 -GARD:18173 Polydactyly, postaxial, type a2 -GARD:18174 Polydactyly, postaxial, type a3 -GARD:18175 Polydactyly, postaxial, type a4 -GARD:18172 Polydactyly, postaxial, type a5 -GARD:18176 Polydactyly, postaxial, type a6 -GARD:16293 Polydactyly, postaxial, type a8 -GARD:18177 Polydactyly, postaxial, type a9 -GARD:4413 Polydactyly-myopia syndrome -GARD:9621 Polyembryoma -GARD:17787 Polyendocrine-polyneuropathy syndrome -GARD:19800 Polyendocrinopathy -GARD:17643 Polyglucosan body myopathy type 1 -GARD:17793 Polyglucosan body myopathy type 2 -GARD:12913 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome -GARD:20259 Polymalformative genetic syndrome with increased risk of developing cancer -GARD:17772 Polymerase proofreading-related adenomatous polyposis -GARD:18818 Polymicrogyria -GARD:17375 Polymicrogyria due to TUBB2B mutation -GARD:20687 Polymicrogyria with optic nerve hypoplasia -GARD:16009 Polymicrogyria, bilateral perisylvian, autosomal recessive -GARD:15256 Polymicrogyria, bilateral perisylvian, x-linked -GARD:4704 Polymyalgia rheumatica -GARD:7425 Polymyositis -GARD:13173 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG -GARD:17071 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome -GARD:4424 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome -GARD:4213 Polyostotic fibrous dysplasia -GARD:19348 Polyploidy -GARD:18276 Polyposis syndrome, hereditary mixed, 2 -GARD:20411 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies -GARD:19945 Polyrrhinia -GARD:20910 Polysomy of X chromosome -GARD:9903 Polysyndactyly -GARD:4428 Polysyndactyly-cardiac malformation syndrome -GARD:20594 Polyvalvular heart disease syndrome -GARD:13588 Pontiac fever -GARD:17855 Pontine autosomal dominant microangiopathy with leukoencephalopathy -GARD:10919 Pontine tegmental cap dysplasia -GARD:10704 Pontocerebellar hypoplasia type 1 -GARD:17680 Pontocerebellar hypoplasia type 10 -GARD:18029 Pontocerebellar hypoplasia type 11 -GARD:18030 Pontocerebellar hypoplasia type 12 -GARD:18031 Pontocerebellar hypoplasia type 13 -GARD:18032 Pontocerebellar hypoplasia type 14 -GARD:10705 Pontocerebellar hypoplasia type 2 -GARD:10708 Pontocerebellar hypoplasia type 3 -GARD:343 Pontocerebellar hypoplasia type 4 -GARD:10710 Pontocerebellar hypoplasia type 6 -GARD:17315 Pontocerebellar hypoplasia type 7 -GARD:17488 Pontocerebellar hypoplasia type 8 -GARD:17590 Pontocerebellar hypoplasia type 9 -GARD:18562 Pontocerebellar hypoplasia, type 14 -GARD:18563 Pontocerebellar hypoplasia, type 15 -GARD:15416 Pontocerebellar hypoplasia, type 1a -GARD:15834 Pontocerebellar hypoplasia, type 1b -GARD:16058 Pontocerebellar hypoplasia, type 1c -GARD:16289 Pontocerebellar hypoplasia, type 1d -GARD:16441 Pontocerebellar hypoplasia, type 1e -GARD:16442 Pontocerebellar hypoplasia, type 1f -GARD:15244 Pontocerebellar hypoplasia, type 2a -GARD:15553 Pontocerebellar hypoplasia, type 2b -GARD:15554 Pontocerebellar hypoplasia, type 2c -GARD:15717 Pontocerebellar hypoplasia, type 2d -GARD:18348 Pontocerebellar hypoplasia, type 2e -GARD:16178 Pontocerebellar hypoplasia, type 2f -GARD:20897 Poorly differentiated thymic neuroendocrine carcinoma -GARD:21189 Popliteal pterygium syndrome -GARD:7430 Porencephaly -GARD:4437 Porencephaly-cerebellar hypoplasia-internal malformations syndrome -GARD:17380 Porencephaly-microcephaly-bilateral congenital cataract syndrome -GARD:18989 Porokeratosis -GARD:15108 Porokeratosis 1, multiple types -GARD:9505 Porokeratosis 3, multiple types -GARD:9504 Porokeratosis 4, disseminated superficial actinic type -GARD:15551 Porokeratosis 5, disseminated superficial actinic type -GARD:15552 Porokeratosis 6, multiple types -GARD:15838 Porokeratosis 7, multiple types -GARD:16056 Porokeratosis 8, disseminated superficial actinic type -GARD:16146 Porokeratosis 9, multiple types -GARD:4438 Porokeratosis of Mibelli -GARD:16542 Porokeratosis plantaris palmaris et disseminata -GARD:20070 Porokeratotic eccrine ostial and dermal duct nevus -GARD:10353 Porphyria -GARD:7433 Porphyria cutanea tarda -GARD:16937 Porphyria due to ALA dehydratase deficiency -GARD:7848 Porphyria variegata -GARD:4014 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome -GARD:22393 Portosinusoidal vascular disease -GARD:9553 Post-transplant lymphoproliferative disease -GARD:19290 Post-traumatic pituitary deficiency -GARD:8410 Postaxial acrofacial dysostosis -GARD:16817 Postaxial polydactyly type A -GARD:16818 Postaxial polydactyly type B -GARD:13349 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome -GARD:16614 Postaxial polydactyly-dental and vertebral anomalies syndrome -GARD:4065 Postaxial tetramelic oligodactyly -GARD:20898 Postcardiotomy right ventricular failure -GARD:19370 Postencephalitic parkinsonism -GARD:16880 Posterior amorphous corneal dystrophy -GARD:9898 Posterior column ataxia-retinitis pigmentosa syndrome -GARD:19520 Posterior corneal dystrophy -GARD:18846 Posterior cortical atrophy -GARD:19483 Posterior fossa malformation -GARD:2276 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome -GARD:20965 Posterior meningocele -GARD:16882 Posterior polymorphous corneal dystrophy -GARD:7439 Posterior urethral valve -GARD:4457 Posterior uveitis -GARD:18007 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome -GARD:21272 Postinfectious autoimmune disease with chorea -GARD:22502 Postinfectious cerebellitis -GARD:18835 Postinfectious vasculitis -GARD:17853 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome -GARD:10809 Postorgasmic illness syndrome -GARD:21853 Postpartum psychosis -GARD:4454 Postpoliomyelitis syndrome -GARD:15022 Postsynaptic congenital myasthenic syndromes -GARD:20051 Posttransplant acute limbic encephalitis -GARD:13591 Postural orthostatic tachycardia syndrome due to NET deficiency -GARD:4459 Potassium-aggravated myotonia -GARD:9762 Potocki-Shaffer syndrome -GARD:20510 Pouchitis -GARD:21632 PrP systemic amyloidosis -GARD:5575 Prader-Willi syndrome -GARD:17075 Prader-Willi syndrome due to imprinting mutation -GARD:16861 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 -GARD:19576 Prader-Willi syndrome due to paternal 15q11q13 deletion -GARD:20138 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 -GARD:20139 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 -GARD:17074 Prader-Willi syndrome due to translocation -GARD:21641 Prader-Willi-like syndrome -GARD:21168 Pre-Descemet corneal dystrophy -GARD:4304 Preaxial polydactyly-colobomata-intellectual disability syndrome -GARD:21807 Precocious puberty in female -GARD:16920 Precursor B-cell acute lymphoblastic leukemia -GARD:19694 Precursor T-cell acute lymphoblastic leukemia -GARD:17795 Predisposition to invasive fungal disease due to CARD9 deficiency -GARD:22318 Predisposition to severe viral infection due to IRF7 deficiency -GARD:19981 Predominantly large-vessel vasculitis -GARD:19982 Predominantly medium-vessel vasculitis -GARD:19983 Predominantly small-vessel vasculitis -GARD:12924 Preeclampsia -GARD:18389 Preeclampsia/eclampsia 1 -GARD:18390 Preeclampsia/eclampsia 2 -GARD:18391 Preeclampsia/eclampsia 3 -GARD:18392 Preeclampsia/eclampsia 4 -GARD:18393 Preeclampsia/eclampsia 5 -GARD:19017 Premature aging -GARD:19271 Premature closure of the arterial duct -GARD:18044 Premature ovarian failure 16 -GARD:20662 Prenatal benign hypophosphatasia -GARD:15225 Prenatal bowing -GARD:17882 Prenatal-onset spinal muscular atrophy with congenital bone fractures -GARD:22191 Prepubertal anorexia nervosa -GARD:19129 Pressure-induced localized lipoatrophy -GARD:15023 Presynaptic congenital myasthenic syndromes -GARD:17054 Primary CD59 deficiency -GARD:9118 Primary Fanconi renotubular syndrome -GARD:10252 Primary Sjögren syndrome -GARD:10898 Primary acquired pure red cell aplasia -GARD:19465 Primary acquired red cell aplasia -GARD:19802 Primary adrenal insufficiency -GARD:18709 Primary adult heart tumor -GARD:20584 Primary anetoderma -GARD:8703 Primary angiitis of the central nervous system -GARD:22147 Primary autoimmune enteropathy -GARD:21664 Primary avascular necrosis -GARD:1037 Primary basilar invagination -GARD:7459 Primary biliary cholangitis -GARD:22250 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome -GARD:21567 Primary bone dysplasia -GARD:19201 Primary bone dysplasia with decreased bone density -GARD:19202 Primary bone dysplasia with defective bone mineralization -GARD:19205 Primary bone dysplasia with disorganized development of skeletal components -GARD:19200 Primary bone dysplasia with increased bone density -GARD:21569 Primary bone dysplasia with micromelia -GARD:19198 Primary bone dysplasia with multiple joint dislocations -GARD:21568 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments -GARD:21385 Primary bone lymphoma -GARD:9318 Primary central nervous system lymphoma -GARD:4484 Primary ciliary dyskinesia -GARD:17190 Primary ciliary dyskinesia-retinitis pigmentosa syndrome -GARD:21966 Primary condylar hyperplasia -GARD:20561 Primary congenital hypothyroidism -GARD:19296 Primary congenital hypothyroidism without thyroid developmental anomaly -GARD:20165 Primary cutaneous B-cell lymphoma -GARD:18697 Primary cutaneous CD30+ T-cell lymphoproliferative disease -GARD:20156 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma -GARD:6226 Primary cutaneous T-cell lymphoma -GARD:20157 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma -GARD:132 Primary cutaneous amyloidosis -GARD:21247 Primary cutaneous anaplastic large cell lymphoma -GARD:20160 Primary cutaneous diffuse large B-cell lymphoma, leg type -GARD:13701 Primary cutaneous follicle center lymphoma -GARD:20158 Primary cutaneous gamma/delta-positive T-cell lymphoma -GARD:18698 Primary cutaneous lymphoma -GARD:20159 Primary cutaneous marginal zone B-cell lymphoma -GARD:19078 Primary cutaneous peripheral T-cell lymphoma not otherwise specified -GARD:21888 Primary cutaneous plasmacytosis -GARD:1643 Primary cutis verticis gyrata -GARD:22268 Primary desmosis coli -GARD:10537 Primary dystonia, DYT13 type -GARD:10536 Primary dystonia, DYT17 type -GARD:2028 Primary dystonia, DYT2 type -GARD:17383 Primary dystonia, DYT21 type -GARD:17819 Primary dystonia, DYT27 type -GARD:10138 Primary dystonia, DYT4 type -GARD:9630 Primary dystonia, DYT6 type -GARD:16490 Primary early-onset glaucoma -GARD:9247 Primary effusion lymphoma -GARD:21714 Primary eosinophilic gastrointestinal disease -GARD:6377 Primary erythromelalgia -GARD:21537 Primary essential cutis verticis gyrata -GARD:17692 Primary failure of tooth eruption -GARD:9843 Primary familial polycythemia -GARD:20732 Primary germ cell tumor of central nervous system -GARD:20025 Primary hemophagocytic lymphohistiocytosis -GARD:19760 Primary hepatic neuroendocrine carcinoma -GARD:17591 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome -GARD:21395 Primary hypereosinophilic syndrome -GARD:16588 Primary hypergonadotropic hypogonadism-partial alopecia syndrome -GARD:16530 Primary hyperoxaluria -GARD:2835 Primary hyperoxaluria type 1 -GARD:2836 Primary hyperoxaluria type 2 -GARD:10738 Primary hyperoxaluria type 3 -GARD:20667 Primary hypertrophic osteoarthropathy -GARD:21254 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis -GARD:3451 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement -GARD:2906 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement -GARD:13072 Primary hypomagnesemia with secondary hypocalcemia -GARD:22484 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome -GARD:22266 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome -GARD:19281 Primary hypophysitis -GARD:19813 Primary immunodeficiency -GARD:20168 Primary immunodeficiency due to a defect in adaptive immunity -GARD:19810 Primary immunodeficiency due to a defect in innate immunity -GARD:16783 Primary immunodeficiency syndrome due to LAMTOR2 deficiency -GARD:16695 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency -GARD:17711 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection -GARD:21795 Primary immunodeficiency with predisposition to severe viral infection -GARD:20935 Primary interstitial lung disease in childhood and adulthood -GARD:20936 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder -GARD:20937 Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder -GARD:20932 Primary interstitial lung disease specific to adulthood -GARD:10559 Primary interstitial lung disease specific to childhood -GARD:20922 Primary interstitial lung disease specific to childhood due to alveolar structure disorder -GARD:20923 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder -GARD:19746 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies -GARD:7873 Primary intestinal lymphangiectasia -GARD:21974 Primary intrahepatic lithiasis -GARD:21909 Primary intralymphatic angioendothelioma -GARD:21063 Primary intraocular lymphoma -GARD:16961 Primary intraosseous venous malformation -GARD:19891 Primary laryngeal lymphangioma -GARD:10684 Primary lateral sclerosis -GARD:12596 Primary lipodystrophy -GARD:21387 Primary localized amyloidosis -GARD:18932 Primary lymphedema -GARD:22297 Primary lymphedema with systemic or visceral involvement -GARD:22296 Primary lymphedema without systemic or visceral involvement -GARD:21426 Primary lymphoma of the conjunctiva -GARD:20101 Primary malignant peritoneal tumor -GARD:19589 Primary mediastinal large B-cell lymphoma -GARD:20639 Primary megaureter, adult-onset form -GARD:20738 Primary melanocytic tumor of central nervous system -GARD:12016 Primary melanoma of the central nervous system -GARD:11982 Primary membranoproliferative glomerulonephritis -GARD:9180 Primary membranous glomerulonephritis -GARD:17381 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome -GARD:17620 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome -GARD:8618 Primary myelofibrosis -GARD:21275 Primary myoclonus -GARD:21538 Primary non-essential cutis verticis gyrata -GARD:21136 Primary non-gestational choriocarcinoma of ovary -GARD:21062 Primary oculocerebral lymphoma -GARD:21064 Primary organ-specific lymphoma -GARD:22141 Primary orthostatic disorder -GARD:12959 Primary orthostatic hypotension -GARD:8563 Primary orthostatic tremor -GARD:19204 Primary osteolysis -GARD:18710 Primary pediatric heart tumor -GARD:20103 Primary peritoneal carcinoma -GARD:21653 Primary peritoneal serous/papillary carcinoma -GARD:20100 Primary peritoneal tumor -GARD:10906 Primary pigmented nodular adrenocortical disease -GARD:19739 Primary plasmacytoma of the bone -GARD:21830 Primary polyarteritis nodosa -GARD:8541 Primary progressive aphasia -GARD:21377 Primary progressive apraxia of speech -GARD:18930 Primary progressive freezing gait -GARD:16591 Primary pulmonary hypoplasia -GARD:18770 Primary pulmonary lymphoma -GARD:21602 Primary qualitative or quantitative defects of alpha-dystroglycan -GARD:7552 Primary renal tubular acidosis -GARD:1280 Primary sclerosing cholangitis -GARD:21578 Primary short bowel syndrome -GARD:19691 Primary syringomyelia -GARD:17431 Primary systemic amyloidosis -GARD:4018 Primary tethered cord syndrome -GARD:20620 Primary unilateral adrenal hyperplasia -GARD:20496 Primitive neuroectodermal tumor of the cervix uteri -GARD:20478 Primitive neuroectodermal tumor of the corpus uteri -GARD:18707 Primitive portal vein thrombosis -GARD:19947 Proboscis lateralis -GARD:4494 Progeria-short stature-pigmented nevi syndrome -GARD:17371 Progeroid and marfanoid aspect-lipodystrophy syndrome -GARD:17722 Progeroid features-hepatocellular carcinoma predisposition syndrome -GARD:19906 Progeroid syndrome -GARD:4497 Progeroid syndrome, Petty type -GARD:17780 Progressive autosomal recessive ataxia-deafness syndrome -GARD:10123 Progressive bifocal chorioretinal atrophy -GARD:19918 Progressive cavitating leukoencephalopathy -GARD:17187 Progressive cerebello-cerebral atrophy -GARD:11897 Progressive cone dystrophy -GARD:5170 Progressive deafness with stapes fixation -GARD:22208 Progressive dementia with neuroserpin inclusion bodies -GARD:13110 Progressive encephalomyelitis with rigidity and myoclonus -GARD:10327 Progressive encephalopathy with leukodystrophy due to DECR deficiency -GARD:4010 Progressive epilepsy-intellectual disability syndrome, Finnish type -GARD:17798 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome -GARD:4503 Progressive external ophthalmoplegia -GARD:13174 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 -GARD:16498 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 -GARD:16499 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 -GARD:16500 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 -GARD:16501 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 -GARD:15215 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 -GARD:18450 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 -GARD:16183 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 -GARD:17517 Progressive external ophthalmoplegia-myopathy-emaciation syndrome -GARD:1093 Progressive familial heart block, type ia -GARD:2610 Progressive familial heart block, type ib -GARD:4879 Progressive familial heart block, type ii -GARD:15255 Progressive familial intrahepatic cholestasis -GARD:9802 Progressive familial intrahepatic cholestasis type 1 -GARD:1288 Progressive familial intrahepatic cholestasis type 2 -GARD:1289 Progressive familial intrahepatic cholestasis type 3 -GARD:9803 Progressive familial intrahepatic cholestasis type 4 -GARD:17867 Progressive familial intrahepatic cholestasis type 5 -GARD:7338 Progressive hemifacial atrophy -GARD:17858 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome -GARD:7468 Progressive multifocal leukoencephalopathy -GARD:21891 Progressive muscular atrophy -GARD:20360 Progressive muscular dystrophy -GARD:7140 Progressive myoclonic epilepsy -GARD:3876 Progressive myoclonic epilepsy type 1 -GARD:2167 Progressive myoclonic epilepsy type 3 -GARD:17671 Progressive myoclonic epilepsy type 5 -GARD:3872 Progressive myoclonic epilepsy type 6 -GARD:17715 Progressive myoclonic epilepsy type 7 -GARD:17706 Progressive myoclonic epilepsy type 8 -GARD:17801 Progressive myoclonic epilepsy type 9 -GARD:17522 Progressive myoclonic epilepsy with dystonia -GARD:22207 Progressive myoclonic epilepsy with neuroserpin inclusion bodies -GARD:20023 Progressive nodular histiocytosis -GARD:10793 Progressive non-fluent aphasia -GARD:18759 Progressive non-infectious anterior vertebral fusion -GARD:109 Progressive osseous heteroplasia -GARD:17123 Progressive polyneuropathy with bilateral striatal necrosis -GARD:9184 Progressive pseudorheumatoid arthropathy of childhood -GARD:17529 Progressive retinal dystrophy due to retinol transport defect -GARD:17779 Progressive scapulohumeroperoneal distal myopathy -GARD:17145 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome -GARD:17808 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome -GARD:7471 Progressive supranuclear palsy -GARD:20648 Progressive supranuclear palsy-corticobasal syndrome -GARD:17183 Progressive supranuclear palsy-parkinsonism syndrome -GARD:20649 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome -GARD:20647 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome -GARD:18639 Progressive symmetric erythrokeratodermia -GARD:4508 Prolactinoma -GARD:7473 Prolidase deficiency -GARD:4509 Proliferating trichilemmal cyst -GARD:144 Prominent glabella-microcephaly-hypogenitalism syndrome -GARD:4513 Properdin deficiency -GARD:467 Propionic acidemia -GARD:21991 Propylthiouracil embryofetopathy -GARD:15334 Prostate cancer, hereditary, 1 -GARD:15507 Prostate cancer, hereditary, 10 -GARD:15536 Prostate cancer, hereditary, 11 -GARD:15529 Prostate cancer, hereditary, 12 -GARD:15534 Prostate cancer, hereditary, 13 -GARD:15537 Prostate cancer, hereditary, 14 -GARD:15538 Prostate cancer, hereditary, 15 -GARD:15839 Prostate cancer, hereditary, 2 -GARD:15439 Prostate cancer, hereditary, 3 -GARD:15440 Prostate cancer, hereditary, 4 -GARD:15455 Prostate cancer, hereditary, 5 -GARD:15462 Prostate cancer, hereditary, 6 -GARD:15478 Prostate cancer, hereditary, 7 -GARD:15351 Prostate cancer, hereditary, 8 -GARD:15505 Prostate cancer, hereditary, 9 -GARD:15253 Prostate cancer, hereditary, x-linked 1 -GARD:15260 Prostate cancer, hereditary, x-linked 2 -GARD:15357 Prostate cancer/brain cancer susceptibility -GARD:13824 Proteasome-associated autoinflammatory syndrome -GARD:3916 Proteasome-associated autoinflammatory syndrome 1 -GARD:18447 Proteasome-associated autoinflammatory syndrome 2 -GARD:18446 Proteasome-associated autoinflammatory syndrome 3 -GARD:18449 Proteasome-associated autoinflammatory syndrome 4 -GARD:18448 Proteasome-associated autoinflammatory syndrome 5 -GARD:18799 Protein S acquired deficiency -GARD:15301 Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis -GARD:7475 Proteus syndrome -GARD:12801 Proteus-like syndrome -GARD:21735 Proton-pump inhibitor-responsive esophageal eosinophilia -GARD:20707 Protoplasmic astrocytoma -GARD:10740 Proximal 16p11.2 microdeletion syndrome -GARD:12388 Proximal 16p11.2 microduplication syndrome -GARD:9781 Proximal Xq28 duplication syndrome -GARD:12978 Proximal myopathy with extrapyramidal signs -GARD:17956 Proximal myopathy with focal depletion of mitochondria -GARD:9728 Proximal myotonic myopathy -GARD:16644 Proximal renal tubular acidosis -GARD:4531 Proximal spinal muscular atrophy -GARD:7883 Proximal spinal muscular atrophy type 1 -GARD:4945 Proximal spinal muscular atrophy type 2 -GARD:198 Proximal spinal muscular atrophy type 3 -GARD:564 Proximal spinal muscular atrophy type 4 -GARD:8182 Proximal symphalangism -GARD:7479 Prune belly syndrome -GARD:9635 Pruritic urticarial papules and plaques of pregnancy -GARD:21373 Pseudo-Meigs syndrome -GARD:8312 Pseudo-von Willebrand disease -GARD:4540 Pseudoachondroplasia -GARD:4544 Pseudoaminopterin syndrome -GARD:9463 Pseudodiastrophic dysplasia -GARD:21861 Pseudohypoaldosteronism -GARD:16545 Pseudohypoaldosteronism type 1 -GARD:4553 Pseudohypoaldosteronism type 2 -GARD:16775 Pseudohypoaldosteronism type 2A -GARD:16776 Pseudohypoaldosteronism type 2B -GARD:16777 Pseudohypoaldosteronism type 2C -GARD:17372 Pseudohypoaldosteronism type 2D -GARD:17373 Pseudohypoaldosteronism type 2E -GARD:10758 Pseudohypoparathyroidism -GARD:7486 Pseudohypoparathyroidism type 1A -GARD:10680 Pseudohypoparathyroidism type 1B -GARD:10681 Pseudohypoparathyroidism type 1C -GARD:10682 Pseudohypoparathyroidism type 2 -GARD:5770 Pseudohypoparathyroidism with Albright hereditary osteodystrophy -GARD:21900 Pseudohypoparathyroidism without Albright hereditary osteodystrophy -GARD:4259 Pseudoleprechaunism syndrome, Patterson type -GARD:7488 Pseudomyxoma peritonei -GARD:22114 Pseudopapilledema -GARD:4536 Pseudopelade of Brocq -GARD:415 Pseudoprogeria syndrome -GARD:7860 Pseudopseudohypoparathyroidism -GARD:19034 Pseudotyphus of California -GARD:20175 Pseudounicornuate uterus -GARD:9643 Pseudoxanthoma elasticum -GARD:10104 Pseudoxanthoma elasticum, forme fruste -GARD:20588 Pseudoxanthoma elasticum-like papillary dermal elastolysis -GARD:21820 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa -GARD:21089 Pseudoxanthomatous diffuse cutaneous mastocytosis -GARD:16059 Psoriasis 15, pustular, susceptibility to -GARD:10970 Psoriasis-related juvenile idiopathic arthritis -GARD:18914 Psychogenic movement disorders -GARD:17943 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome -GARD:2843 Pterin-4 alpha-carbinolamine dehydratase deficiency -GARD:4568 Pterygium colli-intellectual disability-digital anomalies syndrome -GARD:18162 Ptosis, hereditary congenital 1 -GARD:18163 Ptosis, hereditary congenital 2 -GARD:4577 Ptosis-strabismus-ectopic pupils syndrome -GARD:20593 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome -GARD:427 Ptosis-vocal cord paralysis syndrome -GARD:10713 Pudendal neuralgia -GARD:9119 Pulmonary agenesis -GARD:11894 Pulmonary alveolar microlithiasis -GARD:7501 Pulmonary arterial hypertension -GARD:21030 Pulmonary arterial hypertension associated with HIV infection -GARD:21027 Pulmonary arterial hypertension associated with another disease -GARD:21033 Pulmonary arterial hypertension associated with chronic hemolytic anemia -GARD:21029 Pulmonary arterial hypertension associated with congenital heart disease -GARD:21028 Pulmonary arterial hypertension associated with connective tissue disease -GARD:21031 Pulmonary arterial hypertension associated with portal hypertension -GARD:21032 Pulmonary arterial hypertension associated with schistosomiasis -GARD:4584 Pulmonary arteriovenous malformation -GARD:19619 Pulmonary artery coming from patent ductus arteriosus -GARD:19642 Pulmonary artery hypoplasia -GARD:19553 Pulmonary artery or pulmonary branch anomaly -GARD:4588 Pulmonary atresia with ventricular septal defect -GARD:4600 Pulmonary atresia-intact ventricular septum syndrome -GARD:18864 Pulmonary blastoma -GARD:15027 Pulmonary capillary hemangiomatosis -GARD:16098 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 -GARD:16097 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 -GARD:20449 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome -GARD:20512 Pulmonary fungal infections in patients deemed at risk -GARD:21034 Pulmonary hypertension owing to lung disease and/or hypoxia -GARD:21035 Pulmonary hypertension with unclear multifactorial mechanism -GARD:18394 Pulmonary hypertension, primary, 2 -GARD:20516 Pulmonary interstitial glycogenosis -GARD:16663 Pulmonary nodular lymphoid hyperplasia -GARD:12829 Pulmonary non-tuberculous mycobacterial infection -GARD:4597 Pulmonary valve agenesis -GARD:19618 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome -GARD:19780 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome -GARD:21801 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis -GARD:10153 Pulmonary venoocclusive disease -GARD:8527 Pulmonary venoocclusive disease 2, autosomal recessive -GARD:16884 Pulverulent cataract -GARD:4603 Punctate acrokeratoderma freckle-like pigmentation -GARD:7503 Punctate inner choroidopathy -GARD:21297 Punctate palmoplantar keratoderma -GARD:3103 Punctate palmoplantar keratoderma type 1 -GARD:4439 Punctate palmoplantar keratoderma type 2 -GARD:10428 Pure autonomic failure -GARD:16680 Pure hair and nail ectodermal dysplasia -GARD:19822 Pure hereditary spastic paraplegia -GARD:20768 Pure mitochondrial myopathy -GARD:21432 Pure or complex X-linked spastic paraplegia -GARD:21430 Pure or complex autosomal dominant spastic paraplegia -GARD:21431 Pure or complex autosomal recessive spastic paraplegia -GARD:21429 Pure or complex hereditary spastic paraplegia -GARD:4606 Purine nucleoside phosphorylase deficiency -GARD:22221 Pustular pyoderma gangrenosum -GARD:12820 Pustulosis palmaris et plantaris -GARD:4611 Pycnodysostosis -GARD:4610 Pyknoachondrogenesis -GARD:4612 Pyle disease -GARD:7510 Pyoderma gangrenosum -GARD:21139 Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome -GARD:9176 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome -GARD:21454 Pyogenic autoinflammatory syndrome -GARD:21459 Pyogenic autoinflammatory syndrome of childhood -GARD:4614 Pyomyositis -GARD:469 Pyramidal molars-abnormal upper lip syndrome -GARD:10730 Pyridoxal phosphate-responsive seizures -GARD:9298 Pyridoxine-dependent epilepsy -GARD:7512 Pyruvate carboxylase deficiency -GARD:17538 Pyruvate carboxylase deficiency, benign type -GARD:17536 Pyruvate carboxylase deficiency, infantile type -GARD:17537 Pyruvate carboxylase deficiency, severe neonatal type -GARD:4620 Pyruvate dehydrogenase E1-alpha deficiency -GARD:17236 Pyruvate dehydrogenase E1-beta deficiency -GARD:16712 Pyruvate dehydrogenase E2 deficiency -GARD:3263 Pyruvate dehydrogenase E3 deficiency -GARD:17237 Pyruvate dehydrogenase E3-binding protein deficiency -GARD:7513 Pyruvate dehydrogenase deficiency -GARD:9888 Pyruvate dehydrogenase phosphatase deficiency -GARD:20752 Pyruvate metabolism disorder -GARD:7515 Q fever -GARD:18015 QRICH1-related intellectual disability-chondrodysplasia syndrome -GARD:18006 QRSL1-related combined oxidative phosphorylation defect -GARD:371 Qazi-Markouizos syndrome -GARD:22229 Quadricuspid aortic valve -GARD:20403 Qualitative or quantitative defects of FKRP -GARD:20400 Qualitative or quantitative defects of TRIM32 -GARD:21784 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 -GARD:20432 Qualitative or quantitative defects of alpha-actin -GARD:21601 Qualitative or quantitative defects of alpha-dystroglycan -GARD:20390 Qualitative or quantitative defects of alpha-sarcoglycan -GARD:20427 Qualitative or quantitative defects of alphaB-cristallin -GARD:20434 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) -GARD:20391 Qualitative or quantitative defects of beta-sarcoglycan -GARD:20399 Qualitative or quantitative defects of calpain -GARD:20394 Qualitative or quantitative defects of caveolin-3 -GARD:20395 Qualitative or quantitative defects of collagen 6 -GARD:20393 Qualitative or quantitative defects of delta-sarcoglycan -GARD:20426 Qualitative or quantitative defects of desmin -GARD:2003 Qualitative or quantitative defects of dysferlin -GARD:2031 Qualitative or quantitative defects of dystrophin -GARD:20435 Qualitative or quantitative defects of emerin -GARD:20428 Qualitative or quantitative defects of filamin C -GARD:20404 Qualitative or quantitative defects of fukutin -GARD:20392 Qualitative or quantitative defects of gamma-sarcoglycan -GARD:20439 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - -GARD:20397 Qualitative or quantitative defects of integrin alpha-7 -GARD:20425 Qualitative or quantitative defects of myofibrillar proteins -GARD:20401 Qualitative or quantitative defects of myotubularin -GARD:20433 Qualitative or quantitative defects of nebulin -GARD:20398 Qualitative or quantitative defects of perlecan -GARD:20437 Qualitative or quantitative defects of plectin -GARD:20421 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase -GARD:20423 Qualitative or quantitative defects of protein O-mannosyltransferase 1 -GARD:20424 Qualitative or quantitative defects of protein O-mannosyltransferase 2 -GARD:20438 Qualitative or quantitative defects of protein SERCA1 -GARD:20429 Qualitative or quantitative defects of protein ZASP -GARD:20422 Qualitative or quantitative defects of protein glycosyltransferase-like -GARD:20402 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan -GARD:20389 Qualitative or quantitative defects of sarcoglycan -GARD:20436 Qualitative or quantitative defects of selenoprotein N1 -GARD:20431 Qualitative or quantitative defects of telethonin -GARD:20430 Qualitative or quantitative defects of titin -GARD:21123 Qualitative or quantitative defects of tropomyosin -GARD:21122 Qualitative or quantitative defects of troponin -GARD:20388 Qualitative or quantitative protein defects in neuromuscular diseases -GARD:19808 Quantitative and/or qualitative congenital phagocyte defect -GARD:8345 Quebec platelet disorder -GARD:15583 Question mark ears, isolated -GARD:373 Quinquaud folliculitis decalvans -GARD:4637 RAPADILINO syndrome -GARD:17734 RARS-related autosomal recessive hypomyelinating leukodystrophy -GARD:17262 RAS-associated autoimmune leukoproliferative disease -GARD:22213 RASopathy -GARD:22210 RELA fusion-positive ependymoma -GARD:13461 REN-related autosomal dominant tubulointerstitial kidney disease -GARD:17902 RERE-related neurodevelopmental syndrome -GARD:12394 RFT1-CDG -GARD:18010 RFVT2-related riboflavin transporter deficiency -GARD:12861 RFVT3-related riboflavin transporter deficiency -GARD:9681 RHYNS syndrome -GARD:17701 RIDDLE syndrome -GARD:17120 RIN2 syndrome -GARD:17988 RNF13-related severe early-onset epileptic encephalopathy -GARD:7516 Rabies -GARD:226 Rabson-Mendenhall syndrome -GARD:18716 Radial deficiency-tibial hypoplasia syndrome -GARD:225 Radial hemimelia -GARD:258 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome -GARD:4627 Radial ray hypoplasia-choanal atresia syndrome -GARD:19099 Radiation myelitis -GARD:18900 Radiation proctitis -GARD:22139 Radiation-induced disorder -GARD:22137 Radiation-induced plexopathy -GARD:224 Radio-renal syndrome -GARD:21222 Radio-ulnar synostosis, bilateral -GARD:21221 Radio-ulnar synostosis, unilateral -GARD:16687 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome -GARD:18068 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 -GARD:18069 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 -GARD:1810 Radioulnar synostosis-developmental delay-hypotonia syndrome -GARD:394 Radioulnar synostosis-microcephaly-scoliosis syndrome -GARD:22550 Rafiq syndrome -GARD:18297 Rajab interstitial lung disease with brain calcifications 1 -GARD:18298 Rajab interstitial lung disease with brain calcifications 2 -GARD:7523 Ramon syndrome -GARD:4636 Ramos-Arroyo syndrome -GARD:7525 Ramsay Hunt syndrome -GARD:10407 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome -GARD:9628 Rapid-onset dystonia-parkinsonism -GARD:19958 Rapidly involuting congenital hemangioma -GARD:22534 Rare abdominal surgical disease -GARD:20058 Rare acquired aplastic anemia -GARD:20670 Rare acquired deficiency anemia -GARD:20236 Rare acquired hemolytic anemia -GARD:12773 Rare adenocarcinoma of the breast -GARD:19798 Rare adrenal disease -GARD:20136 Rare adult hypothyroidism -GARD:22530 Rare allergic disease -GARD:19398 Rare allergic respiratory disease -GARD:19869 Rare anemia -GARD:20464 Rare arteriovenous malformation -GARD:19816 Rare ataxia -GARD:19558 Rare atrial defect and interatrial communication -GARD:21754 Rare autonomic nervous system disorder -GARD:20044 Rare bacterial infectious disease -GARD:12775 Rare benign breast tumor -GARD:19363 Rare benign ovarian tumor -GARD:19791 Rare biliary tract disease -GARD:19901 Rare bone development disorder -GARD:22511 Rare bone disease -GARD:21575 Rare bone disease related to a common gene or pathway defect -GARD:18892 Rare bone tumor -GARD:22115 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -GARD:20192 Rare breast malformation -GARD:20205 Rare breast tumor -GARD:19794 Rare bronchopulmonary tumor -GARD:20486 Rare cancer of cervix uteri -GARD:20470 Rare cancer of corpus uteri -GARD:20461 Rare capillary malformation -GARD:21914 Rare capillary malformation with associated anomalies -GARD:20511 Rare carcinoma of pancreas -GARD:21763 Rare carcinoma of small intestine -GARD:21757 Rare carcinoma of stomach -GARD:22515 Rare cardiac disease -GARD:20536 Rare cardiac rhythm disease -GARD:20097 Rare cardiac tumor -GARD:20096 Rare cardiomyopathy -GARD:19232 Rare cause of hypertension -GARD:18911 Rare central nervous system and retinal vascular disease -GARD:19492 Rare cerebrovascular dementia -GARD:21270 Rare choreic movement disorder -GARD:22100 Rare choroidal disorder -GARD:18874 Rare chromosomal anomaly -GARD:22527 Rare circulatory system disease -GARD:19468 Rare coagulation disorder -GARD:21916 Rare combined vascular malformation -GARD:21948 Rare congenital anomaly of ventricular septum -GARD:19094 Rare congenital non-syndromic heart malformation -GARD:22086 Rare conjunctivitis -GARD:20318 Rare constitutional anemia -GARD:18889 Rare constitutional aplastic anemia -GARD:20235 Rare constitutional hemolytic anemia -GARD:19455 Rare constitutional hemolytic anemia due to a red cell membrane anomaly -GARD:19458 Rare constitutional hemolytic anemia due to an enzyme disorder -GARD:22087 Rare corneal disorder -GARD:20744 Rare cutaneous lichen planus -GARD:6225 Rare cutaneous lupus erythematosus -GARD:18880 Rare deafness -GARD:20668 Rare deficiency anemia -GARD:19096 Rare dementia -GARD:22513 Rare developmental defect during embryogenesis -GARD:19905 Rare developmental defect with connective tissue involvement -GARD:19904 Rare developmental defect with skin/mucosae involvement -GARD:19796 Rare diabetes mellitus -GARD:20215 Rare diabetes mellitus type 1 -GARD:20216 Rare diabetes mellitus type 2 -GARD:19403 Rare digestive tumor -GARD:19846 Rare disease involving intestinal motility -GARD:21388 Rare disease with Cushing syndrome as a major feature -GARD:19895 Rare disease with Pierre Robin syndrome -GARD:10248 Rare disease with autism -GARD:20095 Rare disease with dentinogenesis imperfecta -GARD:19524 Rare disease with glaucoma as a major feature -GARD:21937 Rare disease with malignant hyperthermia -GARD:21276 Rare disease with myoclonus as a major feature -GARD:19388 Rare disease with odontological manifestation -GARD:21130 Rare disease with thoracic aortic aneurysm and aortic dissection -GARD:22451 Rare disorder due to inadequate sharing of the placenta -GARD:22245 Rare disorder due to poisoning -GARD:22533 Rare disorder due to toxic effects -GARD:22450 Rare disorder due to unbalanced inter-twin blood transfusion -GARD:22110 Rare disorder involving multiple structures of the eye -GARD:22088 Rare disorder of the anterior segment of the eye -GARD:19509 Rare disorder of the lacrimal apparatus -GARD:22079 Rare disorder of the ocular adnexa -GARD:22101 Rare disorder of the posterior segment of the eye -GARD:22089 Rare disorder of the pupil -GARD:22135 Rare disorder of the visual organs -GARD:22062 Rare disorder potentially indicated for bowel transplant -GARD:22065 Rare disorder potentially indicated for heart transplant -GARD:22063 Rare disorder potentially indicated for hematopoietic stem cell transplant -GARD:22061 Rare disorder potentially indicated for kidney transplant -GARD:22060 Rare disorder potentially indicated for liver transplant -GARD:22064 Rare disorder potentially indicated for lung transplant -GARD:22059 Rare disorder potentially indicated for transplant -GARD:22536 Rare disorder potentially indicated for transplant or complication after transplantation -GARD:22449 Rare disorder related to monochorionic twin pregnancy -GARD:20049 Rare disorder related with pregnancy, childbirth and puerperium -GARD:22248 Rare disorder with Hirschsprung disease as a major feature -GARD:21965 Rare disorder with a moyamoya angiopathy -GARD:19513 Rare disorder with conjunctival involvement as a major feature -GARD:22090 Rare disorder with corneal involvement as a major feature -GARD:21596 Rare disorder with dystonia and other neurologic or systemic manifestation -GARD:22080 Rare disorder with ectropion -GARD:22081 Rare disorder with entropion -GARD:21680 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism -GARD:20233 Rare disorder with hypergonadotropic hypogonadism -GARD:18996 Rare disorder with hypertrichosis -GARD:19526 Rare disorder with lens opacification -GARD:20219 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism -GARD:21677 Rare disorder with obstructive azoospermia -GARD:22117 Rare disorder with optic disc malformation -GARD:22094 Rare disorder with pigmented sclera -GARD:19507 Rare disorder with ptosis -GARD:19541 Rare disorder with strabismus -GARD:22444 Rare disorder without a determined diagnosis after full investigation -GARD:19797 Rare dyslipidemia -GARD:18882 Rare dystonia -GARD:22521 Rare endocrine disease -GARD:19146 Rare endocrine growth disease -GARD:19814 Rare epilepsy -GARD:21767 Rare epithelial tumor of colon -GARD:21775 Rare epithelial tumor of pancreas -GARD:21769 Rare epithelial tumor of rectum -GARD:21794 Rare epithelial tumor of small intestine -GARD:18857 Rare epithelial tumor of stomach -GARD:19795 Rare eye tumor -GARD:19508 Rare eyebrow/eyelash disorder -GARD:19501 Rare eyelid malposition disorder -GARD:19686 Rare familial disorder with hypertrophic cardiomyopathy -GARD:19397 Rare female infertility -GARD:21679 Rare female infertility due to a congenital hypogonadotropic hypogonadism -GARD:21692 Rare female infertility due to adrenal disorder of genetic origin -GARD:21681 Rare female infertility due to an adrenal disorder -GARD:21682 Rare female infertility due to an anomaly of ovarian function -GARD:21693 Rare female infertility due to an anomaly of ovarian function of genetic origin -GARD:21684 Rare female infertility due to an implantation defect -GARD:21683 Rare female infertility due to gonadal dysgenesis -GARD:21678 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder -GARD:21691 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -GARD:21718 Rare female infertility due to oocyte maturation defect -GARD:18704 Rare form of salmonellosis -GARD:22516 Rare gastroenterologic disease -GARD:19786 Rare gastroesophageal disease -GARD:20213 Rare gastroesophageal tumor -GARD:20316 Rare genetic adrenal disease -GARD:21802 Rare genetic autonomic nervous system disorder -GARD:21730 Rare genetic bone development disorder -GARD:20288 Rare genetic bone disease -GARD:22150 Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature -GARD:21921 Rare genetic capillary malformation -GARD:19399 Rare genetic cardiac disease -GARD:20010 Rare genetic cause of hypertension -GARD:22187 Rare genetic choroidal disorder -GARD:20319 Rare genetic coagulation disorder -GARD:22174 Rare genetic corneal disorder -GARD:19346 Rare genetic deafness -GARD:20290 Rare genetic developmental defect during embryogenesis -GARD:20312 Rare genetic diabetes mellitus -GARD:22531 Rare genetic disease -GARD:21288 Rare genetic disease with myoclonus as a major feature -GARD:22185 Rare genetic disorder involving multiple structures of the eye -GARD:22166 Rare genetic disorder of the anterior segment of the eye -GARD:22163 Rare genetic disorder of the lacrimal apparatus -GARD:22159 Rare genetic disorder of the ocular adnexa -GARD:22181 Rare genetic disorder of the posterior segment of the eye -GARD:22180 Rare genetic disorder of the pupil -GARD:22149 Rare genetic disorder of the visual organs -GARD:22168 Rare genetic disorder with conjunctival involvement as a major feature -GARD:22175 Rare genetic disorder with corneal involvement as a major feature -GARD:22162 Rare genetic disorder with entropion -GARD:22169 Rare genetic disorder with lens opacification -GARD:21689 Rare genetic disorder with obstructive azoospermia -GARD:22156 Rare genetic disorder with strabismus -GARD:21630 Rare genetic dystonia -GARD:20011 Rare genetic endocrine disease -GARD:20284 Rare genetic epilepsy -GARD:19782 Rare genetic eye disease -GARD:22161 Rare genetic eyelid malposition disorder -GARD:21690 Rare genetic female infertility -GARD:20059 Rare genetic gastroenterological disease -GARD:20323 Rare genetic gynecological and obstetrical diseases -GARD:20283 Rare genetic headache -GARD:20030 Rare genetic hematologic disease -GARD:20004 Rare genetic hepatic disease -GARD:22013 Rare genetic hyperkinetic movement disorder -GARD:20313 Rare genetic hypothalamic or pituitary disease -GARD:20327 Rare genetic immune disease -GARD:22179 Rare genetic inflammatory/autoimmune corneal disorder -GARD:20325 Rare genetic intellectual disability -GARD:22183 Rare genetic macular disorder -GARD:21685 Rare genetic male infertility -GARD:20285 Rare genetic medullar disease -GARD:20287 Rare genetic movement disorder -GARD:21287 Rare genetic myoclonus -GARD:18915 Rare genetic neurological disorder -GARD:22158 Rare genetic neuromuscular disorder with ocular motility/alignment anomaly -GARD:22489 Rare genetic nevus -GARD:22155 Rare genetic ocular motility/alignment disorder -GARD:21748 Rare genetic odontal or periodontal disorder -GARD:18936 Rare genetic odontologic disease -GARD:22151 Rare genetic ophthalmic disorder with cortical involvement -GARD:22152 Rare genetic ophthalmic disorder with cranial nerve involvement -GARD:22153 Rare genetic optic nerve disorder -GARD:22160 Rare genetic palpebral disorder -GARD:20315 Rare genetic parathyroid disease and phosphocalcic metabolism disorder -GARD:21283 Rare genetic parkinsonian disorder -GARD:19400 Rare genetic renal disease -GARD:20007 Rare genetic respiratory disease -GARD:22182 Rare genetic retinal disorder -GARD:22184 Rare genetic retinal vasculopathy -GARD:18877 Rare genetic skin disease -GARD:20326 Rare genetic syndromic intellectual disability -GARD:21018 Rare genetic systemic or rheumatologic disease -GARD:20314 Rare genetic thyroid disease -GARD:21286 Rare genetic tremor disorder -GARD:18875 Rare genetic tumor -GARD:20008 Rare genetic urogenital disease -GARD:20628 Rare genetic vascular disease -GARD:21923 Rare genetic vascular tumor -GARD:21924 Rare genetic venous malformation -GARD:22514 Rare gynecologic or obstetric disease -GARD:19407 Rare gynecological tumor -GARD:19972 Rare head and neck malformation -GARD:21163 Rare head and neck tumor -GARD:19387 Rare headache -GARD:22522 Rare hematologic disease -GARD:19454 Rare hemolytic anemia -GARD:20671 Rare hemorrhagic disorder -GARD:20672 Rare hemorrhagic disorder due to a coagulation factors defect -GARD:18873 Rare hemorrhagic disorder due to a constitutional coagulation factors defect -GARD:18905 Rare hemorrhagic disorder due to a constitutional platelet anomaly -GARD:21019 Rare hemorrhagic disorder due to a constitutional thrombocytopenia -GARD:20673 Rare hemorrhagic disorder due to a platelet anomaly -GARD:21020 Rare hemorrhagic disorder due to a qualitative platelet defect -GARD:20093 Rare hemorrhagic disorder due to an acquired coagulation factor defect -GARD:20675 Rare hemorrhagic disorder due to an acquired platelet anomaly -GARD:19792 Rare hepatic and biliary tract tumor -GARD:22506 Rare hepatic disease -GARD:20286 Rare hereditary ataxia -GARD:22459 Rare hereditary connective tissue disease -GARD:21662 Rare hereditary disease with avascular necrosis -GARD:12733 Rare hereditary disease with peripheral neuropathy -GARD:20540 Rare hereditary hemochromatosis -GARD:20382 Rare hereditary metabolic disease with peripheral neuropathy -GARD:20384 Rare hereditary neurologic disease with peripheral neuropathy -GARD:20383 Rare hereditary systemic disease with peripheral neuropathy -GARD:20515 Rare hereditary thrombophilia -GARD:21971 Rare hypercholesterolemia -GARD:22008 Rare hyperkinetic movement disorder -GARD:20229 Rare hyperlipidemia -GARD:19515 Rare hyperopia and astigmatism -GARD:20225 Rare hyperparathyroidism -GARD:20222 Rare hyperthyroidism -GARD:20518 Rare hypertrophic cardiomyopathy -GARD:20228 Rare hypoaldosteronism -GARD:20231 Rare hypolipidemia -GARD:20224 Rare hypoparathyroidism -GARD:20218 Rare hypothalamic or pituitary disease -GARD:20221 Rare hypothyroidism -GARD:21989 Rare idiopathic macular telangiectasia -GARD:22523 Rare immune disease -GARD:22508 Rare inborn errors of metabolism -GARD:22509 Rare infectious disease -GARD:22529 Rare infertility -GARD:19849 Rare inflammatory bowel disease -GARD:22091 Rare inflammatory/autoimmune corneal disorder -GARD:20214 Rare insulin-resistance syndrome -GARD:19090 Rare intellectual disability -GARD:19873 Rare intestinal disease -GARD:21258 Rare intoxication due to medical products -GARD:16859 Rare isolated myopia -GARD:19525 Rare lens disease -GARD:12344 Rare lichen planus -GARD:9789 Rare lymphatic malformation -GARD:20463 Rare lymphatic system anomaly -GARD:22102 Rare macular disorder -GARD:19396 Rare male infertility -GARD:21671 Rare male infertility due to adrenal disorder -GARD:21687 Rare male infertility due to adrenal disorder of genetic origin -GARD:21670 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder -GARD:21686 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -GARD:21672 Rare male infertility due to testicular endocrine disorder -GARD:12772 Rare malignant breast tumor -GARD:21785 Rare malignant epithelial tumor of liver and intrahepatic biliary tract -GARD:22507 Rare maxillo-facial surgical disease -GARD:19790 Rare metabolic liver disease -GARD:19817 Rare movement disorder -GARD:20745 Rare mucosal lichen planus -GARD:20047 Rare mycosis -GARD:21274 Rare myoclonus -GARD:21235 Rare nail tumor -GARD:22535 Rare neoplastic disease -GARD:19406 Rare nervous system tumor -GARD:20240 Rare neurodegenerative disease -GARD:20239 Rare neuroinflammatory or neuroimmunological disease -GARD:22524 Rare neurologic disease -GARD:19389 Rare neurologic disease with psychiatric involvement -GARD:22118 Rare neuromuscular disorder with ocular motility/alignment anomaly -GARD:21176 Rare nevus -GARD:20624 Rare non surgically correctable form of primary aldosteronism -GARD:20198 Rare non-malformative breast disease -GARD:20197 Rare non-malformative gynecologic or obstetric disease -GARD:20207 Rare non-malformative uterine adnexal disease -GARD:20199 Rare non-malformative uterovaginal or vulvovaginal disease -GARD:19783 Rare non-syndromic intellectual disability -GARD:22122 Rare ocular motility/alignment disorder -GARD:19544 Rare oculomotor nerve disorder -GARD:20055 Rare odontal or periodontal disorder -GARD:21370 Rare odontogenic tumor -GARD:22526 Rare odontologic disease -GARD:22520 Rare ophthalmic disorder -GARD:22116 Rare ophthalmic disorder with cortical involvement -GARD:22119 Rare ophthalmic disorder with cranial nerve involvement -GARD:22120 Rare optic nerve disorder -GARD:22528 Rare otorhinolaryngologic disease -GARD:19405 Rare otorhinolaryngologic tumor -GARD:19350 Rare otorhinolaryngological malformation -GARD:19495 Rare palpebral disorder -GARD:19787 Rare pancreatic disease -GARD:20046 Rare parasitic disease -GARD:18893 Rare parathyroid disease and phosphocalcic metabolism anomaly -GARD:19764 Rare parathyroid tumor -GARD:19789 Rare parenchymal liver disease -GARD:18891 Rare parkinsonian disorder -GARD:21284 Rare parkinsonian syndrome due to genetic neurodegenerative disease -GARD:21263 Rare parkinsonian syndrome due to intoxication -GARD:21261 Rare parkinsonian syndrome due to neurodegenerative disease -GARD:21280 Rare paroxysmal movement disorder -GARD:21997 Rare pediatric rheumatologic disease -GARD:21082 Rare pediatric systemic disease -GARD:21081 Rare pediatric vasculitis -GARD:19476 Rare peripheral neuropathy -GARD:20141 Rare peripheral precocious puberty -GARD:20099 Rare pervasive developmental disorder -GARD:19018 Rare photodermatosis -GARD:7446 Rare precocious puberty -GARD:20227 Rare primary hyperaldosteronism -GARD:19793 Rare pulmonary disease -GARD:18904 Rare pulmonary hypertension -GARD:19514 Rare refraction anomaly -GARD:22512 Rare renal disease -GARD:19230 Rare renal tubular disease -GARD:19233 Rare renal tumor -GARD:22517 Rare respiratory disease -GARD:19404 Rare respiratory tumor -GARD:22103 Rare retinal disorder -GARD:22104 Rare retinal vasculopathy -GARD:20257 Rare rheumatologic disease -GARD:22095 Rare scleral disorder -GARD:22510 Rare skin disease -GARD:19014 Rare skin tumor or hamartoma -GARD:18879 Rare sleep disorder -GARD:18907 Rare soft tissue tumor -GARD:22519 Rare surgical cardiac disease -GARD:22518 Rare surgical thoracic disease -GARD:20623 Rare surgically correctable form of primary aldosteronism -GARD:20003 Rare syndrome with cardiac malformations -GARD:20232 Rare syndromic dyslipidemia -GARD:19834 Rare syndromic intellectual disability -GARD:22440 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -GARD:20255 Rare systemic disease -GARD:22525 Rare systemic or rheumatologic disease -GARD:21079 Rare systemic or rheumatological disease of childhood -GARD:22505 Rare teratologic disease -GARD:20237 Rare thrombotic disease of hematologic origin -GARD:20676 Rare thrombotic disorder due to a coagulation factors defect -GARD:20677 Rare thrombotic disorder due to a constitutional coagulation factors defect -GARD:20680 Rare thrombotic disorder due to a constitutional platelet anomaly -GARD:20679 Rare thrombotic disorder due to a platelet anomaly -GARD:20678 Rare thrombotic disorder due to an acquired coagulation factors defect -GARD:20681 Rare thrombotic disorder due to an acquired platelet anomaly -GARD:19799 Rare thyroid disease -GARD:30000 Rare to-be-classified GARD Diseases -GARD:21269 Rare tremor disorder -GARD:22121 Rare trochlear nerve disorder -GARD:19401 Rare tumor -GARD:21256 Rare tumor of gallbladder and extrahepatic biliary tract -GARD:19848 Rare tumor of intestine -GARD:21257 Rare tumor of liver and intrahepatic biliary tract -GARD:20703 Rare tumor of neuroepithelial tissue -GARD:9364 Rare tumor of pancreas -GARD:21042 Rare tumor of salivary glands -GARD:21760 Rare tumor of small intestine -GARD:19402 Rare urinary tract tumor -GARD:22532 Rare urogenital disease -GARD:20250 Rare urogenital tumor -GARD:19012 Rare urticaria -GARD:20201 Rare uterine adnexal tumor -GARD:20469 Rare uterine cancer -GARD:20188 Rare vaginal malformation -GARD:20471 Rare variants of adenocarcinoma of the corpus uteri -GARD:18881 Rare vascular disease -GARD:19788 Rare vascular liver disease -GARD:21917 Rare vascular malformation of major vessels -GARD:20458 Rare vascular tumor -GARD:20462 Rare venous malformation -GARD:20045 Rare viral disease -GARD:21145 Rare virus associated tumor -GARD:20208 Rare vulvovaginal tumor -GARD:18752 Rasmussen subacute encephalitis -GARD:9557 Rat-bite fever -GARD:3231 Ravine syndrome -GARD:5693 Reactive arthritis -GARD:17029 Reading seizures -GARD:7904 Recessive X-linked ichthyosis -GARD:16720 Recessive dystrophic epidermolysis bullosa inversa -GARD:21083 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome -GARD:19251 Recessive mitochondrial ataxia syndrome -GARD:9698 Recombinant 8 syndrome -GARD:20122 Rectal duplication -GARD:17055 Recurrent Neisseria infections due to factor D deficiency -GARD:19106 Recurrent hepatitis C virus induced liver disease in liver transplant recipients -GARD:22040 Recurrent idiopathic neuroretinitis -GARD:10778 Recurrent infection due to specific granule deficiency -GARD:17086 Recurrent infections associated with rare immunoglobulin isotypes deficiency -GARD:13423 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome -GARD:111 Recurrent respiratory papillomatosis -GARD:12162 Reducing body myopathy -GARD:15261 Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset -GARD:15262 Reducing body myopathy, x-linked 1b, with late childhood or adult onset -GARD:18688 Reflex epilepsy -GARD:19585 Refractory anemia -GARD:19070 Refractory anemia with excess blasts -GARD:20108 Refractory anemia with excess blasts in transformation -GARD:19737 Refractory anemia with excess blasts type 1 -GARD:19738 Refractory anemia with excess blasts type 2 -GARD:21640 Refractory celiac disease -GARD:19069 Refractory cytopenia with multilineage dysplasia -GARD:5691 Refsum disease -GARD:19036 Regional odontodysplasia -GARD:20612 Regional variant of Guillain-Barré syndrome -GARD:17782 Regressive spondylometaphyseal dysplasia -GARD:9276 Reis-Bücklers corneal dystrophy -GARD:19726 Relapsing epidemic typhus -GARD:19171 Relapsing fever -GARD:7417 Relapsing polychondritis -GARD:9228 Renal agenesis -GARD:16579 Renal agenesis, bilateral -GARD:16804 Renal agenesis, unilateral -GARD:4655 Renal caliceal diverticuli-deafness syndrome -GARD:13215 Renal cell carcinoma -GARD:8417 Renal cell carcinoma 4 -GARD:18445 Renal cell carcinoma, xp11-associated -GARD:19986 Renal ciliopathy -GARD:4106 Renal coloboma syndrome -GARD:19530 Renal disease with cataract -GARD:19173 Renal dysplasia -GARD:19178 Renal dysplasia, bilateral -GARD:19177 Renal dysplasia, unilateral -GARD:19172 Renal hypoplasia -GARD:19374 Renal hypoplasia, bilateral -GARD:19373 Renal hypoplasia, unilateral -GARD:13175 Renal medullary carcinoma -GARD:11971 Renal nutcracker syndrome -GARD:19216 Renal or urinary tract malformation -GARD:9145 Renal pseudohypoaldosteronism type 1 -GARD:15228 Renal tubular acidosis iii -GARD:15229 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss -GARD:15350 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss -GARD:379 Renal tubular dysgenesis -GARD:19377 Renal tubular dysgenesis due to twin-twin transfusion -GARD:16854 Renal tubular dysgenesis of genetic origin -GARD:17231 Renal tubulopathy-encephalopathy-liver failure syndrome -GARD:17356 Renal-hepatic-pancreatic dysplasia -GARD:18431 Renal-hepatic-pancreatic dysplasia 1 -GARD:18432 Renal-hepatic-pancreatic dysplasia 2 -GARD:16936 Renin-angiotensin-aldosterone system-blocker-induced angioedema -GARD:9509 Renpenning syndrome -GARD:22275 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha -GARD:18002 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta -GARD:16914 Resistance to thyrotropin-releasing hormone syndrome -GARD:18942 Respiratory bronchiolitis-interstitial lung disease syndrome -GARD:20249 Respiratory malformation -GARD:19395 Respiratory or mediastinal malformation -GARD:19385 Respiratory or thoracic malformation -GARD:20531 Restrictive cardiomyopathy -GARD:1516 Restrictive dermopathy -GARD:8625 Reticular dysgenesis -GARD:18239 Reticular dystrophy of retinal pigment epithelium -GARD:16891 Reticular dystrophy of the retinal pigment epithelium -GARD:19728 Reticular perineurioma -GARD:17079 Reticulate acropigmentation of Kitamura -GARD:21908 Retiform hemangioendothelioma -GARD:15109 Retinal aplasia -GARD:16693 Retinal arterial tortuosity -GARD:18908 Retinal capillary malformation -GARD:19987 Retinal ciliopathy -GARD:19993 Retinal ciliopathy due to mutation in Bardet-Biedl gene -GARD:19991 Retinal ciliopathy due to mutation in Usher gene -GARD:19992 Retinal ciliopathy due to mutation in nephronophthisis gene -GARD:19989 Retinal ciliopathy due to mutation in the RPGR gene -GARD:19990 Retinal ciliopathy due to mutation in the RPGRIP gene -GARD:19988 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene -GARD:3196 Retinal cone dystrophy 1 -GARD:10648 Retinal cone dystrophy 3a -GARD:10650 Retinal cone dystrophy 4 -GARD:395 Retinal degeneration-nanophthalmos-glaucoma syndrome -GARD:17640 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies -GARD:18241 Retinal dystrophy with or without extraocular anomalies -GARD:18240 Retinal dystrophy, reticular pigmentary, of posterior pole -GARD:17411 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome -GARD:4635 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome -GARD:17467 Retinal macular dystrophy type 2 -GARD:1217 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations -GARD:5694 Retinitis pigmentosa -GARD:9149 Retinitis pigmentosa 1 -GARD:15110 Retinitis pigmentosa 10 -GARD:10383 Retinitis pigmentosa 11 -GARD:10376 Retinitis pigmentosa 12 -GARD:10388 Retinitis pigmentosa 13 -GARD:10385 Retinitis pigmentosa 14 -GARD:10387 Retinitis pigmentosa 17 -GARD:10392 Retinitis pigmentosa 18 -GARD:10398 Retinitis pigmentosa 19 -GARD:10380 Retinitis pigmentosa 2 -GARD:10404 Retinitis pigmentosa 20 -GARD:10393 Retinitis pigmentosa 22 -GARD:10391 Retinitis pigmentosa 23 -GARD:10389 Retinitis pigmentosa 24 -GARD:10384 Retinitis pigmentosa 25 -GARD:10397 Retinitis pigmentosa 26 -GARD:15700 Retinitis pigmentosa 27 -GARD:10394 Retinitis pigmentosa 28 -GARD:10378 Retinitis pigmentosa 29 -GARD:10381 Retinitis pigmentosa 3 -GARD:10401 Retinitis pigmentosa 30 -GARD:10396 Retinitis pigmentosa 31 -GARD:10395 Retinitis pigmentosa 32 -GARD:10400 Retinitis pigmentosa 33 -GARD:10390 Retinitis pigmentosa 34 -GARD:10402 Retinitis pigmentosa 35 -GARD:10403 Retinitis pigmentosa 36 -GARD:15508 Retinitis pigmentosa 37 -GARD:15725 Retinitis pigmentosa 38 -GARD:15715 Retinitis pigmentosa 39 -GARD:10405 Retinitis pigmentosa 4 -GARD:15709 Retinitis pigmentosa 40 -GARD:10379 Retinitis pigmentosa 41 -GARD:15593 Retinitis pigmentosa 42 -GARD:15716 Retinitis pigmentosa 43 -GARD:15705 Retinitis pigmentosa 44 -GARD:15704 Retinitis pigmentosa 45 -GARD:15571 Retinitis pigmentosa 46 -GARD:15702 Retinitis pigmentosa 47 -GARD:15720 Retinitis pigmentosa 48 -GARD:15701 Retinitis pigmentosa 49 -GARD:15629 Retinitis pigmentosa 50 -GARD:15665 Retinitis pigmentosa 51 -GARD:15662 Retinitis pigmentosa 54 -GARD:15677 Retinitis pigmentosa 55 -GARD:15678 Retinitis pigmentosa 56 -GARD:15679 Retinitis pigmentosa 57 -GARD:15682 Retinitis pigmentosa 58 -GARD:15724 Retinitis pigmentosa 59 -GARD:10377 Retinitis pigmentosa 6 -GARD:15738 Retinitis pigmentosa 60 -GARD:15766 Retinitis pigmentosa 61 -GARD:15767 Retinitis pigmentosa 62 -GARD:15810 Retinitis pigmentosa 63 -GARD:15923 Retinitis pigmentosa 66 -GARD:15988 Retinitis pigmentosa 67 -GARD:16004 Retinitis pigmentosa 68 -GARD:16011 Retinitis pigmentosa 69 -GARD:10386 Retinitis pigmentosa 7 -GARD:16032 Retinitis pigmentosa 70 -GARD:16101 Retinitis pigmentosa 71 -GARD:16119 Retinitis pigmentosa 72 -GARD:16135 Retinitis pigmentosa 73 -GARD:16138 Retinitis pigmentosa 74 -GARD:16176 Retinitis pigmentosa 75 -GARD:16196 Retinitis pigmentosa 76 -GARD:16221 Retinitis pigmentosa 77 -GARD:16229 Retinitis pigmentosa 78 -GARD:16231 Retinitis pigmentosa 79 -GARD:16252 Retinitis pigmentosa 80 -GARD:15965 Retinitis pigmentosa 82 with or without situs inversus -GARD:16298 Retinitis pigmentosa 83 -GARD:16311 Retinitis pigmentosa 84 -GARD:16342 Retinitis pigmentosa 85 -GARD:16368 Retinitis pigmentosa 86 -GARD:16374 Retinitis pigmentosa 87 with choroidal involvement -GARD:16385 Retinitis pigmentosa 88 -GARD:10382 Retinitis pigmentosa 9 -GARD:15230 Retinitis pigmentosa, late-adult onset -GARD:15310 Retinitis pigmentosa, y-linked -GARD:4684 Retinitis pigmentosa-deafness syndrome -GARD:17903 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome -GARD:4683 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome -GARD:17730 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome -GARD:16655 Retinitis punctata albescens -GARD:7563 Retinoblastoma -GARD:5695 Retinopathy of prematurity -GARD:15231 Retinopathy, pericentral pigmentary, autosomal recessive -GARD:15111 Retinopathy, pericentral pigmentary, dominant -GARD:5696 Rett syndrome -GARD:15664 Rett syndrome, congenital variant -GARD:12768 Reversible cerebral vasoconstriction syndrome -GARD:4695 Revesz syndrome -GARD:7570 Reye syndrome -GARD:4697 Reynolds syndrome -GARD:12916 Rh deficiency syndrome -GARD:16275 Rh-null, amorph type -GARD:7572 Rhabdoid tumor -GARD:18318 Rhabdoid tumor predisposition syndrome 1 -GARD:18319 Rhabdoid tumor predisposition syndrome 2 -GARD:11951 Rhabdomyosarcoma -GARD:20494 Rhabdomyosarcoma of the cervix uteri -GARD:20475 Rhabdomyosarcoma of the corpus uteri -GARD:5699 Rheumatic fever -GARD:15232 Rheumatic fever-related antigen -GARD:3931 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis -GARD:19064 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis -GARD:13160 Rhizomelic chondrodysplasia punctata -GARD:6049 Rhizomelic chondrodysplasia punctata type 1 -GARD:9429 Rhizomelic chondrodysplasia punctata type 2 -GARD:9682 Rhizomelic chondrodysplasia punctata type 3 -GARD:13320 Rhizomelic chondrodysplasia punctata type 5 -GARD:4703 Rhizomelic dysplasia, Patterson-Lowry type -GARD:4705 Rhizomelic syndrome, Urbach type -GARD:18855 Rhombencephalosynapsis -GARD:9993 Riboflavin transporter deficiency -GARD:17747 Ribose-5-P isomerase deficiency -GARD:8423 Richards-Rundle syndrome -GARD:4718 Richieri Costa-Pereira syndrome -GARD:4709 Richieri Costa-da Silva syndrome -GARD:22311 Ricin poisoning -GARD:19827 Rickettsial disease -GARD:19030 Rickettsialpox -GARD:16482 Rieger anomaly -GARD:21416 Rift valley fever -GARD:19640 Right aortic arch -GARD:19660 Right inferior vena cava connecting to left-sided atrium -GARD:6795 Right sided atrial isomerism -GARD:19653 Right superior vena cava connecting to left-sided atrium -GARD:4723 Rigid spine syndrome -GARD:21542 Ring chromosome -GARD:1320 Ring chromosome 1 syndrome -GARD:1322 Ring chromosome 10 syndrome -GARD:10846 Ring chromosome 11 syndrome -GARD:1325 Ring chromosome 12 syndrome -GARD:6069 Ring chromosome 13 syndrome -GARD:6072 Ring chromosome 14 syndrome -GARD:1328 Ring chromosome 15 syndrome -GARD:10855 Ring chromosome 16 syndrome -GARD:4724 Ring chromosome 17 syndrome -GARD:6077 Ring chromosome 18 syndrome -GARD:1333 Ring chromosome 19 syndrome -GARD:10837 Ring chromosome 2 syndrome -GARD:1334 Ring chromosome 20 syndrome -GARD:6083 Ring chromosome 21 syndrome -GARD:1336 Ring chromosome 22 syndrome -GARD:10839 Ring chromosome 3 syndrome -GARD:1339 Ring chromosome 4 syndrome -GARD:10841 Ring chromosome 5 syndrome -GARD:6095 Ring chromosome 6 syndrome -GARD:1345 Ring chromosome 7 syndrome -GARD:1347 Ring chromosome 8 syndrome -GARD:1348 Ring chromosome 9 syndrome -GARD:20785 Ring chromosome Y syndrome -GARD:9696 Ring dermoid of cornea -GARD:4359 Ringed hair disease -GARD:9164 Rippling muscle disease -GARD:9165 Rippling muscle disease 1 -GARD:20353 Rippling muscle disease with myasthenia gravis -GARD:15160 Ritscher-schinzel syndrome 1 -GARD:15278 Ritscher-schinzel syndrome 2 -GARD:16426 Ritscher-schinzel syndrome 3 -GARD:7387 Roberts syndrome -GARD:4729 Robin sequence-oligodactyly syndrome -GARD:312 Robinow syndrome -GARD:2013 Robinow syndrome, autosomal dominant 1 -GARD:18548 Robinow syndrome, autosomal dominant 2 -GARD:18549 Robinow syndrome, autosomal dominant 3 -GARD:4730 Robinow-sorauf syndrome -GARD:4733 Roch-Leri mesosomatous lipomatosis -GARD:7585 Rocky Mountain spotted fever -GARD:9163 Roifman syndrome -GARD:10287 Rolandic epilepsy -GARD:18282 Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked -GARD:17003 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome -GARD:17002 Rolandic epilepsy-speech dyspraxia syndrome -GARD:3284 Romano-Ward syndrome -GARD:4738 Rombo syndrome -GARD:7588 Rosaï-Dorfman disease -GARD:13593 Rosette-forming glioneuronal tumor -GARD:4392 Rothmund-Thomson syndrome -GARD:17134 Rothmund-Thomson syndrome type 1 -GARD:17135 Rothmund-Thomson syndrome type 2 -GARD:218 Rotor syndrome -GARD:4741 Roussy-Lévy syndrome -GARD:19043 Rubella panencephalitis -GARD:7593 Rubinstein-Taybi syndrome -GARD:10754 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion -GARD:17534 Rubinstein-Taybi syndrome due to CREBBP mutations -GARD:17535 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency -GARD:4748 Ruvalcaba syndrome -GARD:13177 S-adenosylhomocysteine hydrolase deficiency -GARD:22463 SAMD9L-associated autoinflammatory syndrome -GARD:7606 SAPHO syndrome -GARD:22326 SATB2-associated syndrome -GARD:17204 SATB2-associated syndrome due to a chromosomal rearrangement -GARD:18013 SATB2-associated syndrome due to a pathogenic variant -GARD:22491 SBDS-related severe neonatal spondylometaphyseal dysplasia -GARD:21592 SCALP syndrome -GARD:247 SCARF syndrome -GARD:10302 SERKAL syndrome -GARD:22397 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome -GARD:7633 SHORT syndrome -GARD:17434 SHOX-related short stature -GARD:21642 SIM1-related Prader-Willi-like syndrome -GARD:17925 SIN3A-related intellectual disability syndrome due to a point mutation -GARD:22001 SIX2-related frontonasal dysplasia -GARD:12409 SLC35A1-CDG -GARD:12403 SLC35A2-CDG -GARD:12610 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome -GARD:17846 SLC39A8-CDG -GARD:21943 SMARCA4-deficient sarcoma of thorax -GARD:957 SPECC1L-related hypertelorism syndrome -GARD:4970 SPONASTRIME dysplasia -GARD:12397 SRD5A3-CDG -GARD:12405 SSR4-CDG -GARD:17935 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome -GARD:17737 STAT3-related early-onset multisystem autoimmune disease -GARD:15006 STAT5 Haploinsuffciency -GARD:12357 STING-associated vasculopathy with onset in infancy -GARD:17602 STT3A-CDG -GARD:17603 STT3B-CDG -GARD:22404 STXBP1-related encephalopathy -GARD:9257 SUNCT syndrome -GARD:17616 SURF1-related Charcot-Marie-Tooth disease type 4 -GARD:22232 SYNGAP1-related developmental and epileptic encephalopathy -GARD:314 Saccharopinuria -GARD:17642 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome -GARD:319 Sacrococcygeal teratoma -GARD:7598 Saethre-Chotzen syndrome -GARD:21233 Sagliker syndrome -GARD:8600 Saldino-Mainzer syndrome -GARD:12774 Salivary gland type cancer of the breast -GARD:4754 Salla disease -GARD:2521 Sandhoff disease -GARD:17405 Sandhoff disease, adult form -GARD:7604 Sandhoff disease, infantile form -GARD:17404 Sandhoff disease, juvenile form -GARD:9684 Sandifer syndrome -GARD:7071 Sanfilippo syndrome type A -GARD:7072 Sanfilippo syndrome type B -GARD:7073 Sanfilippo syndrome type C -GARD:7074 Sanfilippo syndrome type D -GARD:411 Sanjad-Sakati syndrome -GARD:18848 Sarcocystosis -GARD:7607 Sarcoidosis -GARD:18594 Sarcoidosis, susceptibility to, 1 -GARD:18595 Sarcoidosis, susceptibility to, 2 -GARD:18596 Sarcoidosis, susceptibility to, 3 -GARD:20493 Sarcoma of cervix uteri -GARD:20476 Sarcoma of the corpus uteri -GARD:158 Sarcosinemia -GARD:160 Satoyoshi syndrome -GARD:239 Say-Barber-Miller syndrome -GARD:241 Scalp defects-postaxial polydactyly syndrome -GARD:159 Scalp-ear-nipple syndrome -GARD:10314 Scapuloperoneal spinal muscular atrophy -GARD:19121 Scarring in glaucoma filtration surgical procedures -GARD:21880 Scedosporiosis -GARD:12561 Scheie syndrome -GARD:2930 Schilbach-Rott syndrome -GARD:16661 Schilder disease -GARD:4984 Schimke immuno-osseous dysplasia -GARD:117 Schinzel-Giedion syndrome -GARD:246 Schisis association -GARD:15112 Schistosoma mansoni infection, susceptibility/resistance to -GARD:9687 Schistosomiasis -GARD:166 Schizencephaly -GARD:169 Schneckenbecken dysplasia -GARD:12390 Schnitzler syndrome -GARD:9277 Schnyder corneal dystrophy -GARD:4768 Schwannomatosis -GARD:16000 Schwannomatosis 2 -GARD:250 Schwartz-Jampel syndrome -GARD:16649 Schöpf-Schulz-Passarge syndrome -GARD:18680 Scimitar syndrome -GARD:5975 Scleredema -GARD:18705 Scleroderma -GARD:7615 Scleromyxedema -GARD:19144 Scleromyxedema without monoclonal gammopathy -GARD:21868 Sclerosing cholangitis -GARD:19729 Sclerosing perineurioma -GARD:4771 Sclerosteosis -GARD:15233 Sclerosteosis 1 -GARD:15786 Sclerosteosis 2 -GARD:21939 Scorpion envenomation -GARD:4777 Scott syndrome -GARD:19035 Scrub typhus -GARD:8241 Sea-blue histiocytosis -GARD:19002 Sebaceous gland anomaly -GARD:5003 Sebocystomatosis -GARD:17039 Seborrhea-like dermatitis with psoriasiform elements -GARD:8562 Seckel syndrome -GARD:15143 Seckel syndrome 1 -GARD:18484 Seckel syndrome 10 -GARD:15399 Seckel syndrome 2 -GARD:15687 Seckel syndrome 4 -GARD:15719 Seckel syndrome 5 -GARD:16013 Seckel syndrome 8 -GARD:16158 Seckel syndrome 9 -GARD:16968 Second branchial cleft anomaly -GARD:21659 Secondary avascular necrosis -GARD:20120 Secondary central precocious puberty -GARD:22111 Secondary early-onset glaucoma -GARD:22186 Secondary early-onset glaucoma of genetic origin -GARD:19503 Secondary ectropion -GARD:22201 Secondary erythromelalgia -GARD:20026 Secondary hemophagocytic lymphohistiocytosis -GARD:21396 Secondary hypereosinophilic syndrome -GARD:19922 Secondary hypoparathyroidism due to impaired parathormon secretion -GARD:20938 Secondary interstitial lung disease in childhood and adulthood -GARD:20247 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease -GARD:20940 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease -GARD:20939 Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease -GARD:20941 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis -GARD:20933 Secondary interstitial lung disease specific to adulthood associated with a systemic disease -GARD:20927 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease -GARD:20929 Secondary interstitial lung disease specific to childhood associated with a granulomatous disease -GARD:20930 Secondary interstitial lung disease specific to childhood associated with a metabolic disease -GARD:20926 Secondary interstitial lung disease specific to childhood associated with a systemic disease -GARD:20928 Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis -GARD:19135 Secondary intestinal lymphangiectasia -GARD:21643 Secondary neonatal autoimmune disease -GARD:21661 Secondary non-traumatic avascular necrosis -GARD:21831 Secondary polyarteritis nodosa -GARD:19467 Secondary polycythemia -GARD:21744 Secondary pulmonary alveolar proteinosis -GARD:19713 Secondary pulmonary hemosiderosis -GARD:21869 Secondary sclerosing cholangitis -GARD:19258 Secondary short bowel syndrome -GARD:19692 Secondary syringomyelia -GARD:21863 Secondary vasculitis -GARD:18872 Segmental odontomaxillary dysplasia -GARD:19881 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome -GARD:21384 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia -GARD:856 Seizures, benign familial infantile, 1 -GARD:16504 Seizures, benign familial infantile, 2 -GARD:16521 Seizures, benign familial infantile, 3 -GARD:16505 Seizures, benign familial infantile, 4 -GARD:16506 Seizures, benign familial infantile, 5 -GARD:15054 Seizures, benign familial neonatal, 2 -GARD:15427 Seizures, benign familial neonatal, 3 -GARD:15234 Seizures, benign familial neonatal, autosomal recessive -GARD:16709 Seizures-intellectual disability due to hydroxylysinuria syndrome -GARD:17836 Seizures-scoliosis-macrocephaly syndrome -GARD:12547 Selective IgM deficiency -GARD:22447 Selective intrauterine growth restriction -GARD:19141 Self-healing papular mucinosis -GARD:17303 Self-improving collodion baby -GARD:10010 Self-improving dystrophic epidermolysis bullosa -GARD:10792 Semantic dementia -GARD:21745 Semicircular canal dehiscence syndrome -GARD:17131 Semilobar holoprosencephaly -GARD:16730 Senior-Boichis syndrome -GARD:322 Senior-Loken syndrome -GARD:15405 Senior-loken syndrome 3 -GARD:15406 Senior-loken syndrome 4 -GARD:15451 Senior-loken syndrome 5 -GARD:15476 Senior-loken syndrome 6 -GARD:15681 Senior-loken syndrome 7 -GARD:16081 Senior-loken syndrome 8 -GARD:16145 Senior-loken syndrome 9 -GARD:17128 Sensorineural deafness with dilated cardiomyopathy -GARD:18869 Sensorineural hearing loss-early graying-essential tremor syndrome -GARD:9998 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome -GARD:19105 Sepsis in premature infants -GARD:20180 Septate uterus -GARD:20189 Septate vagina -GARD:7627 Septo-optic dysplasia spectrum -GARD:16519 Septooptic dysplasia -GARD:17289 Septopreoptic holoprosencephaly -GARD:22334 Serine biosynthesis pathway deficiency, infantile/juvenile form -GARD:22258 Seromucinous cystadenoma of childhood -GARD:22253 Seronegative autoimmune hepatitis -GARD:18828 Serotonin syndrome -GARD:22055 Serotonin-producing neuroendocrine tumor of pancreas -GARD:20481 Serous carcinoma of the corpus uteri -GARD:21781 Serous cystadenocarcinoma of pancreas -GARD:22256 Serous cystadenoma of childhood -GARD:31 Serpiginous choroiditis -GARD:20683 Serpinopathy -GARD:20685 Serpinopathy with loss of serpin function -GARD:20684 Serpinopathy with toxic serpin polymerization -GARD:16982 Serrated polyposis syndrome -GARD:17437 Severe Canavan disease -GARD:5611 Severe X-linked intellectual disability, Gustavson type -GARD:17171 Severe X-linked mitochondrial encephalomyopathy -GARD:9443 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome -GARD:9237 Severe acute respiratory syndrome -GARD:17738 Severe autosomal recessive macrothrombocytopenia -GARD:7628 Severe combined immunodeficiency -GARD:17549 Severe combined immunodeficiency due to CARD11 deficiency -GARD:17144 Severe combined immunodeficiency due to CORO1A deficiency -GARD:17696 Severe combined immunodeficiency due to CTPS1 deficiency -GARD:9987 Severe combined immunodeficiency due to DCLRE1C deficiency -GARD:17441 Severe combined immunodeficiency due to DNA-PKcs deficiency -GARD:4358 Severe combined immunodeficiency due to FOXN1 deficiency -GARD:17641 Severe combined immunodeficiency due to IKK2 deficiency -GARD:17938 Severe combined immunodeficiency due to LAT deficiency -GARD:17288 Severe combined immunodeficiency due to LCK deficiency -GARD:5748 Severe combined immunodeficiency due to adenosine deaminase deficiency -GARD:10339 Severe combined immunodeficiency due to complete RAG1/2 deficiency -GARD:17364 Severe congenital hypochromic anemia with ringed sideroblasts -GARD:12821 Severe congenital nemaline myopathy -GARD:13592 Severe congenital neutropenia -GARD:17594 Severe dermatitis-multiple allergies-metabolic wasting syndrome -GARD:18811 Severe disseminated cytomegalovirus infection in immunocompetent patients -GARD:21565 Severe early-childhood-onset retinal dystrophy -GARD:19123 Severe early-onset axonal neuropathy due to MFN2 deficiency -GARD:21486 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency -GARD:17746 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency -GARD:2153 Severe generalized junctional epidermolysis bullosa -GARD:17895 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome -GARD:17059 Severe hemophilia A -GARD:17056 Severe hemophilia B -GARD:16544 Severe hereditary thrombophilia due to congenital protein C deficiency -GARD:16543 Severe hereditary thrombophilia due to congenital protein S deficiency -GARD:17840 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome -GARD:8689 Severe immune-mediated enteropathy -GARD:10999 Severe intellectual disability and progressive spastic paraplegia -GARD:17824 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome -GARD:19247 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia -GARD:21817 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome -GARD:12815 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome -GARD:13221 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome -GARD:3505 Severe intellectual disability-progressive spastic diplegia syndrome -GARD:17611 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome -GARD:21436 Severe lateral tibial bowing with short stature -GARD:3482 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome -GARD:17592 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome -GARD:17963 Severe myopia-generalized joint laxity-short stature syndrome -GARD:21383 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion -GARD:17629 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency -GARD:17103 Severe neonatal-onset encephalopathy with microcephaly -GARD:17552 Severe neurodegenerative syndrome with lipodystrophy -GARD:17930 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract -GARD:4050 Severe oculo-renal-cerebellar syndrome -GARD:17682 Severe phosphoribosylpyrophosphate synthetase superactivity -GARD:6447 Severe primary trimethylaminuria -GARD:21476 Sex chromosome disorder of sex development -GARD:21551 Sex cord-stromal tumor of testis -GARD:19426 Sex-chromosome anomaly -GARD:19427 Sex-chromosome number anomaly -GARD:19428 Sex-chromosome structural anomaly -GARD:7630 Sheehan syndrome -GARD:16556 Sheldon-Hall syndrome -GARD:6588 Shiga toxin-associated hemolytic uremic syndrome -GARD:4818 Shigellosis -GARD:19630 Shone complex -GARD:1502 Short bowel syndrome -GARD:4822 Short chain acyl-CoA dehydrogenase deficiency -GARD:18868 Short fifth metacarpals-insulin resistance syndrome -GARD:18633 Short qt syndrome 1 -GARD:18634 Short qt syndrome 2 -GARD:18635 Short qt syndrome 3 -GARD:18726 Short rib-polydactyly syndrome -GARD:17919 Short rib-polydactyly syndrome type 5 -GARD:4832 Short rib-polydactyly syndrome, Beemer-Langer type -GARD:4833 Short rib-polydactyly syndrome, Majewski type -GARD:4834 Short rib-polydactyly syndrome, Saldino-Noonan type -GARD:4835 Short rib-polydactyly syndrome, Verma-Naumoff type -GARD:17436 Short stature due to GHSR deficiency -GARD:408 Short stature due to growth hormone qualitative anomaly -GARD:16538 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia -GARD:17435 Short stature due to partial GHR deficiency -GARD:16964 Short stature due to primary acid-labile subunit deficiency -GARD:4838 Short stature, Brussels type -GARD:18483 Short stature, microcephaly, and endocrine dysfunction -GARD:17717 Short stature-advanced bone age-early-onset osteoarthritis syndrome -GARD:17633 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome -GARD:17817 Short stature-brachydactyly-obesity-global developmental delay syndrome -GARD:2605 Short stature-craniofacial anomalies-genital hypoplasia syndrome -GARD:4841 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome -GARD:17068 Short stature-delayed bone age due to thyroid hormone metabolism deficiency -GARD:17419 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome -GARD:10945 Short stature-optic atrophy-Pelger-Huët anomaly syndrome -GARD:10604 Short stature-pituitary and cerebellar defects-small sella turcica syndrome -GARD:22350 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome -GARD:16612 Short stature-valvular heart disease-characteristic facies syndrome -GARD:583 Short stature-webbed neck-heart disease syndrome -GARD:4856 Short stature-wormian bones-dextrocardia syndrome -GARD:296 Short tarsus-absence of lower eyelashes syndrome -GARD:17548 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome -GARD:2988 Short-limb skeletal dysplasia with severe combined immunodeficiency -GARD:15140 Short-rib thoracic dysplasia 1 with or without polydactyly -GARD:15993 Short-rib thoracic dysplasia 10 with or without polydactyly -GARD:15996 Short-rib thoracic dysplasia 11 with or without polydactyly -GARD:16079 Short-rib thoracic dysplasia 13 with or without polydactyly -GARD:18467 Short-rib thoracic dysplasia 14 with polydactyly -GARD:16185 Short-rib thoracic dysplasia 15 with polydactyly -GARD:16189 Short-rib thoracic dysplasia 16 with or without polydactyly -GARD:15511 Short-rib thoracic dysplasia 2 with or without polydactyly -GARD:15613 Short-rib thoracic dysplasia 3 with or without polydactyly -GARD:15718 Short-rib thoracic dysplasia 4 with or without polydactyly -GARD:15795 Short-rib thoracic dysplasia 5 with or without polydactyly -GARD:15224 Short-rib thoracic dysplasia 6 with or without polydactyly -GARD:15756 Short-rib thoracic dysplasia 7 with or without polydactyly -GARD:15975 Short-rib thoracic dysplasia 8 with or without polydactyly -GARD:15227 Short-rib thoracic dysplasia 9 with or without polydactyly -GARD:4861 Shprintzen-Goldberg syndrome -GARD:18511 Shukla-vernon syndrome -GARD:4863 Shwachman-Diamond syndrome -GARD:15221 Shwachman-diamond syndrome 1 -GARD:16272 Shwachman-diamond syndrome 2 -GARD:21331 Sialidosis -GARD:7639 Sialidosis type 1 -GARD:7183 Sialidosis type 2 -GARD:4865 Sialuria -GARD:18284 Sick sinus syndrome 2 -GARD:18285 Sick sinus syndrome 3, susceptibility to -GARD:8614 Sickle cell anemia -GARD:21024 Sickle cell disease and related diseases -GARD:12459 Sickle cell disease associated with another hemoglobin anomaly -GARD:10333 Sickle cell-beta-thalassemia disease syndrome -GARD:6584 Sickle cell-hemoglobin C disease syndrome -GARD:12458 Sickle cell-hemoglobin D disease syndrome -GARD:20700 Sickle cell-hemoglobin E disease syndrome -GARD:18714 Sideroblastic anemia -GARD:4867 Siegler-Brewer-Carey syndrome -GARD:21392 Silent pituitary adenoma -GARD:18910 Silent sinus syndrome -GARD:4869 Sillence syndrome -GARD:4870 Silver-Russell syndrome -GARD:20605 Silver-Russell syndrome due to 11p15 microduplication -GARD:20603 Silver-Russell syndrome due to 7p11.2p13 microduplication -GARD:17628 Silver-Russell syndrome due to a point mutation -GARD:20604 Silver-Russell syndrome due to an imprinting defect of 11p15 -GARD:20606 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 -GARD:19334 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 -GARD:18463 Silver-russell syndrome 3 -GARD:18464 Silver-russell syndrome 4 -GARD:18465 Silver-russell syndrome 5 -GARD:6217 Simple cryoglobulinemia -GARD:20460 Simple vascular malformation -GARD:7649 Simpson-Golabi-Behmel syndrome -GARD:19366 Sinding-Larsen-Johansson disease -GARD:21832 Single-organ polyarteritis nodosa -GARD:122 Singleton-Merten dysplasia -GARD:16078 Singleton-merten syndrome 2 -GARD:17484 Sinoatrial node dysfunction and deafness -GARD:4880 Sinus node disease and myopia -GARD:7652 Sirenomelia -GARD:7653 Sitosterolemia -GARD:16372 Sitosterolemia 2 -GARD:20013 Situs ambiguus -GARD:4883 Situs inversus totalis -GARD:7654 Sjögren-Larsson syndrome -GARD:6390 Skeletal Ewing sarcoma -GARD:22070 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome -GARD:350 Skeletal dysplasia-epilepsy-short stature syndrome -GARD:19471 Skeletal muscle disease -GARD:16156 Skin creases, congenital symmetric circumferential, 2 -GARD:5231 Skin fragility-woolly hair-palmoplantar keratoderma syndrome -GARD:19008 Skin vascular disease -GARD:19197 Slender bone dysplasia -GARD:11923 Small cell carcinoma of the bladder -GARD:10411 Small cell carcinoma of the ovary -GARD:9344 Small cell lung cancer -GARD:5683 Smith-Lemli-Opitz syndrome -GARD:8197 Smith-Magenis syndrome -GARD:10620 Smith-McCort dysplasia -GARD:15411 Smith-mccort dysplasia 1 -GARD:15921 Smith-mccort dysplasia 2 -GARD:20036 Smoldering systemic mastocytosis -GARD:21881 Snakebite envenomation -GARD:7664 Sneddon syndrome -GARD:9706 Snowflake vitreoretinal degeneration -GARD:17382 Sodium channelopathy-related small fiber neuropathy -GARD:4898 Soft tissue sarcoma -GARD:19353 Solar urticaria -GARD:21780 Solid pseudopapillary carcinoma of pancreas -GARD:20420 Solid tumor associated with an acquired peripheral neuropathy -GARD:19039 Solitary bone cyst -GARD:15014 Solitary fibrous tumor/hemangiopericytoma -GARD:4877 Solitary median maxillary central incisor -GARD:19743 Solitary necrotic nodule of the liver -GARD:20444 Solitary rectal ulcer syndrome -GARD:21391 Somatomammotropinoma -GARD:4900 Somatostatinoma -GARD:16850 Somatotropic adenoma -GARD:10511 Sorsby fundus dystrophy -GARD:16480 Sorsby pseudoinflammatory fundus dystrophy -GARD:10091 Sotos syndrome -GARD:15048 Sotos syndrome -GARD:16867 Southeast Asian ovalocytosis -GARD:21058 Spasmus nutans -GARD:21401 Spastic ataxia -GARD:16560 Spastic ataxia with congenital miosis -GARD:3795 Spastic ataxia-corneal dystrophy syndrome -GARD:22247 Spastic ataxia-dysarthria due to glutaminase deficiency -GARD:18033 Spastic paraparesis-cataracts-speech delay syndrome -GARD:5555 Spastic paraparesis-deafness syndrome -GARD:15749 Spastic paraplegia 47, autosomal recessive -GARD:15592 Spastic paraplegia 50, autosomal recessive -GARD:13737 Spastic paraplegia 51, autosomal recessive -GARD:15750 Spastic paraplegia 52, autosomal recessive -GARD:4923 Spastic paraplegia type 2 -GARD:4927 Spastic paraplegia type 7 -GARD:21491 Spastic paraplegia-Paget disease of bone syndrome -GARD:806 Spastic paraplegia-facial-cutaneous lesions syndrome -GARD:4931 Spastic paraplegia-glaucoma-intellectual disability syndrome -GARD:17957 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome -GARD:2342 Spastic paraplegia-nephritis-deafness syndrome -GARD:4921 Spastic paraplegia-neuropathy-poikiloderma syndrome -GARD:21797 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder -GARD:17479 Spastic paraplegia-optic atrophy-neuropathy syndrome -GARD:4918 Spastic paraplegia-precocious puberty syndrome -GARD:17816 Spastic paraplegia-severe developmental delay-epilepsy syndrome -GARD:4932 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome -GARD:13425 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome -GARD:20118 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells -GARD:20456 Specific language disorder -GARD:20455 Specific learning disability -GARD:17516 Spectrin-associated autosomal recessive cerebellar ataxia -GARD:16921 Spermatocytic seminoma -GARD:15214 Spermatogenic failure 1 -GARD:18401 Spermatogenic failure 10 -GARD:15904 Spermatogenic failure 11 -GARD:15960 Spermatogenic failure 12 -GARD:16019 Spermatogenic failure 13 -GARD:16020 Spermatogenic failure 14 -GARD:16173 Spermatogenic failure 15 -GARD:18402 Spermatogenic failure 18 -GARD:18403 Spermatogenic failure 19 -GARD:15041 Spermatogenic failure 2 -GARD:18404 Spermatogenic failure 20 -GARD:16245 Spermatogenic failure 22 -GARD:16246 Spermatogenic failure 23 -GARD:16274 Spermatogenic failure 25 -GARD:18405 Spermatogenic failure 27 -GARD:16290 Spermatogenic failure 28 -GARD:18399 Spermatogenic failure 3 -GARD:16291 Spermatogenic failure 30 -GARD:16292 Spermatogenic failure 32 -GARD:18406 Spermatogenic failure 33 -GARD:18407 Spermatogenic failure 34 -GARD:18408 Spermatogenic failure 37 -GARD:18409 Spermatogenic failure 38 -GARD:18410 Spermatogenic failure 39 -GARD:15235 Spermatogenic failure 4 -GARD:18411 Spermatogenic failure 40 -GARD:18412 Spermatogenic failure 41 -GARD:18413 Spermatogenic failure 42 -GARD:18414 Spermatogenic failure 43 -GARD:16420 Spermatogenic failure 48 -GARD:16436 Spermatogenic failure 52 -GARD:15032 Spermatogenic failure 6 -GARD:18400 Spermatogenic failure 7 -GARD:15734 Spermatogenic failure 8 -GARD:15735 Spermatogenic failure 9 -GARD:8406 Spermatogenic failure, x-linked, 1 -GARD:15302 Spermatogenic failure, x-linked, 2 -GARD:18503 Spermatogenic failure, y-linked, 1 -GARD:18504 Spermatogenic failure, y-linked, 2 -GARD:16149 Spherocytosis, type 2 -GARD:15236 Spherocytosis, type 3 -GARD:15576 Spherocytosis, type 4 -GARD:15578 Spherocytosis, type 5 -GARD:8711 Spheroid body myopathy -GARD:7672 Sphingolipidosis -GARD:21615 Sphingolipidosis with epilepsy -GARD:21371 Spigelian hernia-cryptorchidism syndrome -GARD:20951 Spina bifida aperta -GARD:20958 Spina bifida cystica -GARD:4940 Spina bifida-hypospadias syndrome -GARD:15113 Spinal arachnoiditis -GARD:11892 Spinal arteriovenous metameric syndrome -GARD:4942 Spinal atrophy-ophthalmoplegia-pyramidal syndrome -GARD:19109 Spinal cord injury -GARD:9701 Spinal intradural arachnoid cysts -GARD:20381 Spinal muscular atrophy associated with central nervous system anomaly -GARD:4947 Spinal muscular atrophy with congenital bone fractures 1 -GARD:18495 Spinal muscular atrophy with congenital bone fractures 2 -GARD:8592 Spinal muscular atrophy with respiratory distress type 1 -GARD:21723 Spinal muscular atrophy with respiratory distress type 2 -GARD:18443 Spinal muscular atrophy, distal, autosomal recessive, 5 -GARD:18922 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome -GARD:3875 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome -GARD:20452 Spindle cell hemangioma -GARD:4071 Spinocerebellar ataxia type 1 -GARD:10474 Spinocerebellar ataxia type 10 -GARD:10475 Spinocerebellar ataxia type 11 -GARD:10476 Spinocerebellar ataxia type 12 -GARD:9611 Spinocerebellar ataxia type 13 -GARD:9867 Spinocerebellar ataxia type 14 -GARD:10477 Spinocerebellar ataxia type 15/16 -GARD:10469 Spinocerebellar ataxia type 17 -GARD:9976 Spinocerebellar ataxia type 18 -GARD:12365 Spinocerebellar ataxia type 19/22 -GARD:4072 Spinocerebellar ataxia type 2 -GARD:9997 Spinocerebellar ataxia type 20 -GARD:9999 Spinocerebellar ataxia type 21 -GARD:9950 Spinocerebellar ataxia type 23 -GARD:9996 Spinocerebellar ataxia type 25 -GARD:9995 Spinocerebellar ataxia type 26 -GARD:9963 Spinocerebellar ataxia type 27 -GARD:9951 Spinocerebellar ataxia type 28 -GARD:10480 Spinocerebellar ataxia type 29 -GARD:6801 Spinocerebellar ataxia type 3 -GARD:4950 Spinocerebellar ataxia type 30 -GARD:9975 Spinocerebellar ataxia type 31 -GARD:17276 Spinocerebellar ataxia type 32 -GARD:59 Spinocerebellar ataxia type 34 -GARD:12366 Spinocerebellar ataxia type 35 -GARD:12367 Spinocerebellar ataxia type 36 -GARD:12368 Spinocerebellar ataxia type 37 -GARD:12369 Spinocerebellar ataxia type 38 -GARD:9970 Spinocerebellar ataxia type 4 -GARD:12371 Spinocerebellar ataxia type 40 -GARD:17810 Spinocerebellar ataxia type 41 -GARD:17811 Spinocerebellar ataxia type 42 -GARD:17917 Spinocerebellar ataxia type 43 -GARD:22353 Spinocerebellar ataxia type 45 -GARD:22352 Spinocerebellar ataxia type 46 -GARD:4953 Spinocerebellar ataxia type 5 -GARD:10351 Spinocerebellar ataxia type 6 -GARD:4955 Spinocerebellar ataxia type 7 -GARD:4956 Spinocerebellar ataxia type 8 -GARD:10000 Spinocerebellar ataxia with axonal neuropathy type 1 -GARD:12860 Spinocerebellar ataxia with axonal neuropathy type 2 -GARD:17229 Spinocerebellar ataxia with epilepsy -GARD:15389 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 -GARD:4958 Spinocerebellar ataxia-dysmorphism syndrome -GARD:1525 Spinocerebellar degeneration-corneal dystrophy syndrome -GARD:19701 Spirillary rat-bite fever -GARD:21248 Splenic diffuse red pulp small B-cell lymphoma -GARD:19072 Splenic marginal zone lymphoma -GARD:4963 Splenogonadal fusion-limb defects-micrognathia syndrome -GARD:22317 Split cord malformation -GARD:1851 Split cord malformation type I -GARD:22316 Split cord malformation type II -GARD:16686 Split hand-split foot-deafness syndrome -GARD:17889 Split-foot malformation-mesoaxial polydactyly syndrome -GARD:15308 Split-hand/foot malformation 2 -GARD:15193 Split-hand/foot malformation 3 -GARD:15378 Split-hand/foot malformation 4 -GARD:15398 Split-hand/foot malformation 5 -GARD:15166 Split-hand/foot malformation 6 -GARD:15050 Split-hand/foot malformation with long bone deficiency 1 -GARD:15492 Split-hand/foot malformation with long bone deficiency 2 -GARD:17154 Spondylo-megaepiphyseal-metaphyseal dysplasia -GARD:16740 Spondylo-ocular syndrome -GARD:4972 Spondylocamptodactyly syndrome -GARD:4974 Spondylocarpotarsal synostosis -GARD:10726 Spondylocostal dysostosis 1, autosomal recessive -GARD:9703 Spondylocostal dysostosis 2, autosomal recessive -GARD:4973 Spondylocostal dysostosis 3, autosomal recessive -GARD:4976 Spondylocostal dysostosis 4, autosomal recessive -GARD:12807 Spondylocostal dysostosis 6, autosomal recessive -GARD:22214 Spondylodysplastic Ehlers-Danlos syndrome -GARD:19193 Spondylodysplastic dysplasia -GARD:4978 Spondyloenchondrodysplasia -GARD:134 Spondyloepimetaphyseal dysplasia congenita, Strudwick type -GARD:4982 Spondyloepimetaphyseal dysplasia with joint laxity -GARD:16348 Spondyloepimetaphyseal dysplasia with joint laxity, type 3 -GARD:9866 Spondyloepimetaphyseal dysplasia with multiple dislocations -GARD:10057 Spondyloepimetaphyseal dysplasia, Geneviève type -GARD:10741 Spondyloepimetaphyseal dysplasia, Handigodu type -GARD:16819 Spondyloepimetaphyseal dysplasia, Irapa type -GARD:21586 Spondyloepimetaphyseal dysplasia, Isidor type -GARD:10618 Spondyloepimetaphyseal dysplasia, Missouri type -GARD:16813 Spondyloepimetaphyseal dysplasia, PAPSS2 type -GARD:4980 Spondyloepimetaphyseal dysplasia, Shohat type -GARD:10513 Spondyloepimetaphyseal dysplasia, aggrecan type -GARD:10611 Spondyloepimetaphyseal dysplasia, matrilin-3 type -GARD:17030 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome -GARD:10101 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome -GARD:10616 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome -GARD:7687 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia -GARD:4987 Spondyloepiphyseal dysplasia congenita -GARD:10624 Spondyloepiphyseal dysplasia tarda -GARD:16995 Spondyloepiphyseal dysplasia tarda, Kohn type -GARD:15114 Spondyloepiphyseal dysplasia tarda, autosomal dominant -GARD:15237 Spondyloepiphyseal dysplasia tarda, autosomal recessive -GARD:4985 Spondyloepiphyseal dysplasia tarda, x-linked -GARD:10220 Spondyloepiphyseal dysplasia with metatarsal shortening -GARD:16814 Spondyloepiphyseal dysplasia, Kimberley type -GARD:16996 Spondyloepiphyseal dysplasia, MacDermot type -GARD:994 Spondyloepiphyseal dysplasia, Maroteaux type -GARD:16994 Spondyloepiphyseal dysplasia, Reardon type -GARD:17812 Spondyloepiphyseal dysplasia, Stanescu type -GARD:10629 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome -GARD:16993 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome -GARD:18025 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome -GARD:18685 Spondylometaphyseal dysplasia -GARD:4991 Spondylometaphyseal dysplasia, 'corner fracture' type -GARD:458 Spondylometaphyseal dysplasia, A4 type -GARD:21587 Spondylometaphyseal dysplasia, Czarny-Ratajczak type -GARD:8343 Spondylometaphyseal dysplasia, Golden type -GARD:3047 Spondylometaphyseal dysplasia, Kozlowski type -GARD:504 Spondylometaphyseal dysplasia, Schmidt type -GARD:4993 Spondylometaphyseal dysplasia, Sedaghatian type -GARD:8719 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome -GARD:10647 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome -GARD:18016 Spondylometaphyseal dysplasia-corneal dystrophy syndrome -GARD:4994 Spondyloperipheral dysplasia-short ulna syndrome -GARD:21854 Spontaneous intracranial hypotension -GARD:4815 Spontaneous periodic hypothermia -GARD:6956 Sporadic Creutzfeldt-Jakob disease -GARD:20654 Sporadic adult-onset ataxia of unknown etiology -GARD:22349 Sporadic fatal insomnia -GARD:18734 Sporadic fetal brain disruption sequence -GARD:22327 Sporadic human prion disease -GARD:21282 Sporadic hyperekplexia -GARD:20549 Sporadic infantile bilateral striatal necrosis -GARD:7385 Sporadic pheochromocytoma/secreting paraganglioma -GARD:17749 Sporadic porphyria cutanea tarda -GARD:7692 Sporotrichosis -GARD:19828 Spotted fever rickettsiosis -GARD:7693 Sprengel deformity -GARD:21792 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract -GARD:21789 Squamous cell carcinoma of liver and intrahepatic biliary tract -GARD:22046 Squamous cell carcinoma of oral cavity and lip -GARD:21776 Squamous cell carcinoma of pancreas -GARD:17929 Squamous cell carcinoma of salivary glands -GARD:21774 Squamous cell carcinoma of the anal canal -GARD:20487 Squamous cell carcinoma of the cervix uteri -GARD:21768 Squamous cell carcinoma of the colon -GARD:20479 Squamous cell carcinoma of the corpus uteri -GARD:18901 Squamous cell carcinoma of the esophagus -GARD:17907 Squamous cell carcinoma of the hypopharynx -GARD:17908 Squamous cell carcinoma of the larynx -GARD:17933 Squamous cell carcinoma of the lip -GARD:17927 Squamous cell carcinoma of the nasal cavity and paranasal sinuses -GARD:17932 Squamous cell carcinoma of the oral cavity -GARD:17928 Squamous cell carcinoma of the oropharynx -GARD:21639 Squamous cell carcinoma of the penis -GARD:21770 Squamous cell carcinoma of the rectum -GARD:21764 Squamous cell carcinoma of the small intestine -GARD:21743 Squamous cell carcinoma of the stomach -GARD:19041 St. Louis encephalitis -GARD:12631 Stapes ankylosis with broad thumbs and toes -GARD:18821 Staphylococcal necrotizing pneumonia -GARD:13158 Staphylococcal scalded skin syndrome -GARD:18819 Staphylococcal scarlet fever -GARD:21239 Staphylococcal toxemia -GARD:19710 Staphylococcal toxic-shock syndrome -GARD:181 Stargardt disease -GARD:15314 Stargardt disease 3 -GARD:15359 Stargardt disease 4 -GARD:20081 Startle epilepsy -GARD:5004 Steatocystoma multiplex-natal teeth syndrome -GARD:17735 Steel syndrome -GARD:8310 Steinert myotonic dystrophy -GARD:10516 Sterile multifocal osteomyelitis with periostitis and pustulosis -GARD:5012 Sternal cleft -GARD:5015 Steroid dehydrogenase deficiency-dental anomalies syndrome -GARD:8570 Steroid-responsive encephalopathy associated with autoimmune thyroiditis -GARD:18969 Sterol biosynthesis disorder -GARD:18981 Sterol metabolism disorder -GARD:20558 Sterol metabolism disorder with epilepsy -GARD:7700 Stevens-Johnson syndrome -GARD:22066 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome -GARD:7743 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum -GARD:10782 Stickler syndrome -GARD:5018 Stickler syndrome type 1 -GARD:5020 Stickler syndrome type 2 -GARD:15461 Stickler syndrome, type i, nonsyndromic ocular -GARD:18358 Stickler syndrome, type iv -GARD:18359 Stickler syndrome, type v -GARD:5023 Stiff person spectrum disorder -GARD:5025 Stiff skin syndrome -GARD:5026 Stimmler syndrome -GARD:5188 Stormorken-Sjaastad-Langslet syndrome -GARD:19631 Straddling and/or overriding mitral valve -GARD:19263 Straddling or overriding tricuspid valve -GARD:19702 Streptobacillary rat-bite fever -GARD:19709 Streptococcal toxic-shock syndrome -GARD:22235 Streptococcus pneumoniae-associated hemolytic uremic syndrome -GARD:15016 Striate palmoplantar keratoderma -GARD:18315 Striatonigral degeneration, infantile, mitochondrial -GARD:19519 Stromal corneal dystrophy -GARD:17945 Stromme syndrome -GARD:8195 Strongyloidiasis -GARD:22082 Structural developmental eye defect -GARD:22165 Structural developmental eye defect of genetic origin -GARD:7706 Sturge-Weber syndrome -GARD:5045 Stüve-Wiedemann syndrome -GARD:19775 Sub-cortical nodular heterotopia -GARD:20042 Subacute cutaneous lupus erythematosus -GARD:20355 Subacute inflammatory demyelinating polyneuropathy -GARD:7708 Subacute sclerosing leukoencephalitis -GARD:19656 Subaortic course of innominate vein -GARD:18242 Subaortic stenosis, membranous -GARD:405 Subaortic stenosis-short stature syndrome -GARD:13606 Subcorneal pustular dermatosis -GARD:1904 Subcortical band heterotopia -GARD:10193 Subcutaneous panniculitis-like T-cell lymphoma -GARD:19011 Subcutaneous tissue disease -GARD:10632 Subependymal giant cell astrocytoma -GARD:5050 Subependymal nodular heterotopia -GARD:10070 Subependymoma -GARD:16878 Subepithelial mucinous corneal dystrophy -GARD:19976 Submucosal cleft palate -GARD:5051 Subpulmonary stenosis -GARD:7695 Succinic semialdehyde dehydrogenase deficiency -GARD:4774 Succinyl-CoA:3-oxoacid CoA transferase deficiency -GARD:12382 Sudden infant death-dysgenesis of the testes syndrome -GARD:5058 Sugarman brachydactyly -GARD:19188 Sulfation-related bone disorder -GARD:3705 Sulfite oxidase deficiency due to molybdenum cofactor deficiency -GARD:17386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A -GARD:17387 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B -GARD:17388 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C -GARD:127 Summitt syndrome -GARD:19518 Superficial corneal dystrophy -GARD:2966 Superficial epidermolytic ichthyosis -GARD:20328 Superficial fibromatosis -GARD:18833 Superficial pemphigus -GARD:9484 Superficial siderosis -GARD:10940 Superior limbic keratoconjunctivitis -GARD:7712 Superior mesenteric artery syndrome -GARD:20195 Supernumerary breasts -GARD:19946 Supernumerary nostril -GARD:19546 Supranuclear eye movement disorder -GARD:18344 Supranuclear palsy, progressive, 2 -GARD:18345 Supranuclear palsy, progressive, 3 -GARD:21941 Supratip dysplasia -GARD:743 Supravalvular aortic stenosis -GARD:4594 Supravalvular pulmonary stenosis -GARD:15263 Surfactant metabolism dysfunction, pulmonary, 4 -GARD:15793 Surfactant metabolism dysfunction, pulmonary, 5 -GARD:7713 Susac syndrome -GARD:17514 Susceptibility to infection due to TYK2 deficiency -GARD:21865 Susceptibility to localized juvenile periodontitis -GARD:17047 Susceptibility to respiratory infections associated with CD8alpha chain mutation -GARD:17612 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency -GARD:521 Sweet syndrome -GARD:7716 Sydenham chorea -GARD:1680 Symbrachydactyly of hands and feet -GARD:5070 Symmetrical thalamic calcifications -GARD:18939 Sympathetic ophthalmia -GARD:5077 Symphalangism with multiple anomalies of hands and feet -GARD:15942 Symphalangism, proximal, 1b -GARD:21057 Symptomatic form of Coffin-Lowry syndrome in female carriers -GARD:22439 Symptomatic form of X-linked centronuclear myopathy in female carriers -GARD:17783 Symptomatic form of fragile X syndrome in female carriers -GARD:10417 Symptomatic form of hemochromatosis type 1 -GARD:20350 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers -GARD:16872 Synaptic congenital myasthenic syndromes -GARD:5081 Syndactyly type 1 -GARD:5087 Syndactyly type 2 -GARD:5088 Syndactyly type 3 -GARD:4434 Syndactyly type 4 -GARD:5089 Syndactyly type 5 -GARD:21201 Syndactyly type 6 -GARD:3559 Syndactyly type 8 -GARD:17551 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome -GARD:21175 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication -GARD:5090 Syndactyly-polydactyly-ear lobe syndrome -GARD:10295 Syndactyly-telecanthus-anogenital and renal malformations syndrome -GARD:20529 Syndrome associated with dilated cardiomyopathy -GARD:20523 Syndrome associated with hypertrophic cardiomyopathy -GARD:22390 Syndrome of reduced sensitivity to thyroid hormone -GARD:19998 Syndrome or malformation associated with head and neck malformations -GARD:21467 Syndrome with 46,XX disorder of sex development -GARD:19411 Syndrome with 46,XY disorder of sex development -GARD:21002 Syndrome with a Dandy-Walker malformation as a major feature -GARD:19866 Syndrome with a central nervous system malformation as a major feature -GARD:20999 Syndrome with a cerebellar malformation as a major feature -GARD:20627 Syndrome with alpha-thalassemia as a major feature -GARD:21510 Syndrome with combined immunodeficiency -GARD:20339 Syndrome with corpus callosum agenesis/dysgenesis as a major feature -GARD:21479 Syndrome with disorder of sex development of gynecological interest -GARD:20223 Syndrome with hypoparathyroidism -GARD:21188 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -GARD:19871 Syndrome with limb malformations as a major feature -GARD:21186 Syndrome with limb reduction defects -GARD:21000 Syndrome with microcephaly as a major feature -GARD:21036 Syndrome with pulmonary hypertension as a major feature -GARD:19212 Syndrome with synostosis or other joint formation defect -GARD:21803 Syndrome with woolly hair -GARD:9156 Syndromic X-linked intellectual disability 7 -GARD:20596 Syndromic agammaglobulinemia -GARD:19494 Syndromic aniridia -GARD:19499 Syndromic ankyloblepharon filiforme adnatum -GARD:19874 Syndromic anorectal malformation -GARD:22148 Syndromic autoimmune enteropathy -GARD:22019 Syndromic biliary atresia -GARD:20196 Syndromic breast hypoplasia/aplasia -GARD:19527 Syndromic cataract -GARD:22106 Syndromic chorioretinal dystrophy -GARD:22262 Syndromic congenital sodium diarrhea -GARD:21967 Syndromic constitutional thrombocytopenia -GARD:19521 Syndromic corneal dystrophy -GARD:19911 Syndromic craniosynostosis -GARD:19864 Syndromic diaphragmatic or abdominal wall malformation -GARD:20212 Syndromic diaphragmatic or thoracic malformation -GARD:5258 Syndromic diarrhea -GARD:19542 Syndromic disorder with strabismus -GARD:22092 Syndromic ectopia lentis -GARD:19504 Syndromic epicanthus -GARD:19856 Syndromic esophageal malformation -GARD:19500 Syndromic eyelid coloboma -GARD:19858 Syndromic gastroduodenal malformation -GARD:22170 Syndromic genetic cataract -GARD:19145 Syndromic genetic deafness -GARD:22157 Syndromic genetic disorder with strabismus -GARD:22173 Syndromic genetic ectopia lentis -GARD:22178 Syndromic genetic keratoconus -GARD:18998 Syndromic hair shaft abnormality -GARD:21845 Syndromic hereditary optic neuropathy -GARD:19516 Syndromic hyperopia -GARD:20137 Syndromic hypothyroidism -GARD:22108 Syndromic inherited retinal disorder -GARD:19860 Syndromic intestinal malformation -GARD:19517 Syndromic keratoconus -GARD:22083 Syndromic lacrimal system disorder -GARD:22107 Syndromic macular dystrophy -GARD:3692 Syndromic microphthalmia type 5 -GARD:20342 Syndromic microphthalmia-anophthalmia-coloboma -GARD:22093 Syndromic microspherophakia -GARD:10775 Syndromic multisystem autoimmune disease due to Itch deficiency -GARD:19001 Syndromic nail anomaly -GARD:20650 Syndromic obesity -GARD:21125 Syndromic oculocutaneous albinism -GARD:19888 Syndromic optic nerve hypoplasia -GARD:16858 Syndromic orbital border hypoplasia -GARD:19506 Syndromic outer canthal malposition -GARD:17302 Syndromic recessive X-linked ichthyosis -GARD:19218 Syndromic renal or urinary tract malformation -GARD:19868 Syndromic respiratory or mediastinal malformation -GARD:19538 Syndromic rod-cone dystrophy -GARD:17799 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect -GARD:19505 Syndromic telecanthus -GARD:20064 Syndromic urogenital tract malformation -GARD:20187 Syndromic uterovaginal malformation -GARD:19862 Syndromic visceral malformation -GARD:22109 Syndromic vitreoretinopathy -GARD:5091 Syngnathia-cleft palate syndrome -GARD:9863 Synostoses, tarsal, carpal, and digital -GARD:7721 Synovial sarcoma -GARD:17358 Synpolydactyly type 1 -GARD:17359 Synpolydactyly type 2 -GARD:17360 Synpolydactyly type 3 -GARD:5100 Syringocystadenoma papilliferum -GARD:7725 Syringomyelia -GARD:21562 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood -GARD:20256 Systemic autoimmune disease -GARD:1084 Systemic capillary leak syndrome -GARD:22289 Systemic disease with glomerulopathy as a major feature -GARD:21160 Systemic disease with skin involvement -GARD:21101 Systemic diseases with anterior uveitis -GARD:21103 Systemic diseases with panuveitis -GARD:21102 Systemic diseases with posterior uveitis -GARD:20416 Systemic inflammatory disease associated with an acquired peripheral neuropathy -GARD:18695 Systemic lupus erythematosus -GARD:8616 Systemic mastocytosis -GARD:19596 Systemic mastocytosis with associated hematologic neoplasm -GARD:19116 Systemic monochloroacetate poisoning -GARD:21833 Systemic polyarteritis nodosa -GARD:5104 Systemic primary carnitine deficiency -GARD:9748 Systemic sclerosis -GARD:22292 Systemic vasculitis associated with glomerulopathy -GARD:10966 Systemic-onset juvenile idiopathic arthritis -GARD:7629 Sézary syndrome -GARD:21636 T+ B+ severe combined immunodeficiency -GARD:21405 T-B+ severe combined immunodeficiency -GARD:17053 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta -GARD:17052 T-B+ severe combined immunodeficiency due to CD45 deficiency -GARD:17051 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency -GARD:16632 T-B+ severe combined immunodeficiency due to JAK3 deficiency -GARD:5618 T-B+ severe combined immunodeficiency due to gamma chain deficiency -GARD:21406 T-B- severe combined immunodeficiency -GARD:17483 T-cell immunodeficiency with epidermodysplasia verruciformis -GARD:9812 T-cell large granular lymphocyte leukemia -GARD:20133 T-cell non-Hodgkin lymphoma -GARD:13731 T-cell prolymphocytic leukemia -GARD:12257 T-cell/histiocyte rich large B cell lymphoma -GARD:21902 TAFRO syndrome -GARD:10089 TARP syndrome -GARD:17896 TBCK-related intellectual disability syndrome -GARD:17646 TCR-alpha-beta-positive T-cell deficiency -GARD:17898 TELO2-related intellectual disability-neurodevelopmental disorder -GARD:10962 TEMPI syndrome -GARD:17558 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome -GARD:12413 TMEM165-CDG -GARD:17825 TMEM199-CDG -GARD:16561 TMEM70-related mitochondrial encephalo-cardio-myopathy -GARD:17998 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome -GARD:12530 TNP03-related limb-girdle muscular dystrophy D2 -GARD:17708 TOR1AIP1-related limb-girdle muscular dystrophy -GARD:22370 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome -GARD:12543 TRAPPC11-related limb-girdle muscular dystrophy R18 -GARD:22395 TRIM22-related inflammatory bowel disease -GARD:3844 TRIM32-related limb-girdle muscular dystrophy R8 -GARD:21577 TRPV4-related bone disorder -GARD:19157 TSH-secreting pituitary adenoma -GARD:7730 Takayasu arteritis -GARD:9400 Tako-Tsubo cardiomyopathy -GARD:17921 Tall stature-intellectual disability-renal anomalies syndrome -GARD:17495 Tall stature-long halluces-multiple extra-epiphyses syndrome -GARD:10061 Talo-patello-scaphoid osteolysis -GARD:7731 Tangier disease -GARD:19672 Tarsal kink syndrome -GARD:9225 Tarsal-carpal coalition syndrome -GARD:17674 Tatton-Brown-Rahman syndrome -GARD:7737 Tay-Sachs disease -GARD:21326 Tay-Sachs disease, B variant, adult form -GARD:21324 Tay-Sachs disease, B variant, infantile form -GARD:21325 Tay-Sachs disease, B variant, juvenile form -GARD:21327 Tay-Sachs disease, B1 variant -GARD:5125 Teebi-Shaltout syndrome -GARD:5128 Tel Hashomer camptodactyly syndrome -GARD:19136 Telangiectasia macularis eruptiva perstans -GARD:9901 Telangiectasia, hereditary hemorrhagic, type 2 -GARD:9902 Telangiectasia, hereditary hemorrhagic, type 3 -GARD:10615 Telangiectasia, hereditary hemorrhagic, type 4 -GARD:15978 Telangiectasia, hereditary hemorrhagic, type 5 -GARD:18791 Telecanthus-hypertelorism-strabismus-pes cavus syndrome -GARD:10471 Telethonin-related limb-girdle muscular dystrophy R7 -GARD:17530 Temperature-sensitive oculocutaneous albinism type 1 -GARD:13431 Temple syndrome -GARD:16848 Temple syndrome due to maternal uniparental disomy of chromosome 14 -GARD:17222 Temple syndrome due to paternal 14q32.2 hypomethylation -GARD:17220 Temple syndrome due to paternal 14q32.2 microdeletion -GARD:9441 Temple-Baraitser syndrome -GARD:20451 Temporomandibular joint anomaly -GARD:9679 Temtamy preaxial brachydactyly syndrome -GARD:5688 Temtamy syndrome -GARD:7396 Tenosynovial giant cell tumor -GARD:19899 Teratogenic Pierre Robin syndrome -GARD:20735 Teratoma of the central nervous system -GARD:16769 Terminal osseous dysplasia-pigmentary defects syndrome -GARD:22025 Terminal transverse limb defect -GARD:22133 Terrien marginal degeneration -GARD:16974 Tessier number 4 facial cleft -GARD:19968 Tessier number 5 facial cleft -GARD:19969 Tessier number 6 facial cleft -GARD:16975 Tessier number 7 facial cleft -GARD:5819 Testicular agenesis -GARD:18360 Testicular anomalies with or without congenital heart disease -GARD:16552 Testicular regression syndrome -GARD:4792 Testicular seminomatous germ cell tumor -GARD:17560 Testicular teratoma -GARD:5144 Tetanus -GARD:5148 Tetra-amelia -GARD:15238 Tetraamelia syndrome 1 -GARD:16286 Tetraamelia syndrome 2 -GARD:386 Tetraamelia-multiple malformations syndrome -GARD:20332 Tetragametic chimerism -GARD:21166 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria -GARD:2245 Tetralogy of Fallot -GARD:3707 Tetramelic monodactyly -GARD:5151 Tetraploidy -GARD:8421 Tetrasomy 12p -GARD:35 Tetrasomy 18p -GARD:12480 Tetrasomy 21 -GARD:18792 Tetrasomy 5p -GARD:42 Tetrasomy 9p -GARD:7754 Tetrasomy X -GARD:5158 Thakker-Donnai syndrome -GARD:2313 Thalidomide embryopathy -GARD:85 Thanatophoric dysplasia -GARD:9295 Thanatophoric dysplasia type 1 -GARD:1402 Thanatophoric dysplasia type 2 -GARD:19708 Theca steroid-producing cell malignant tumor of ovary, not further specified -GARD:12762 Therapy related acute myeloid leukemia and myelodysplastic syndrome -GARD:17097 Thiamine-responsive encephalopathy -GARD:17266 Thiamine-responsive maple syrup urine disease -GARD:9210 Thiamine-responsive megaloblastic anemia syndrome -GARD:2195 Thickened earlobes-conductive deafness syndrome -GARD:9275 Thiel-Behnke corneal dystrophy -GARD:4131 Thiemann disease, familial form -GARD:18727 Thin ribs-tubular bones-dysmorphism syndrome -GARD:20080 Thinking seizures -GARD:19935 Third branchial cleft anomaly -GARD:5175 Thomas syndrome -GARD:12301 Thomsen and Becker disease -GARD:5180 Thoracic dysplasia-hydrocephalus syndrome -GARD:20248 Thoracic malformation -GARD:7759 Thoracic outlet syndrome -GARD:5181 Thoraco-abdominal enteric duplication -GARD:15116 Thoracolaryngopelvic dysplasia -GARD:5184 Thoracolaryngopelvic dysplasia -GARD:20953 Thoracolumbosacral spina bifida aperta -GARD:20960 Thoracolumbosacral spina bifida cystica -GARD:10612 Thoracomelic dysplasia -GARD:15239 Three m syndrome 1 -GARD:15591 Three m syndrome 2 -GARD:15772 Three m syndrome 3 -GARD:21487 Thrombocythemia with distal limb defects -GARD:5191 Thrombocytopenia 2 -GARD:18288 Thrombocytopenia 3 -GARD:18289 Thrombocytopenia 4 -GARD:18492 Thrombocytopenia 7 -GARD:16676 Thrombocytopenia with congenital dyserythropoietic anemia -GARD:5116 Thrombocytopenia-absent radius syndrome -GARD:17726 Thrombomodulin-related bleeding disorder -GARD:18574 Thrombophilia due to protein c deficiency, autosomal dominant -GARD:13041 Thrombophilia due to protein c deficiency, autosomal recessive -GARD:18568 Thrombophilia due to protein s deficiency, autosomal dominant -GARD:18569 Thrombophilia due to protein s deficiency, autosomal recessive -GARD:19227 Thrombotic microangiopathy -GARD:16659 Thrombotic thrombocytopenic purpura -GARD:5199 Thumb deformity-alopecia-pigmentation anomaly syndrome -GARD:4375 Thumb stiffness-brachydactyly-intellectual disability syndrome -GARD:22131 Thygeson superficial punctate keratitis -GARD:7201 Thymic aplasia -GARD:19695 Thymic carcinoma -GARD:5201 Thymic epithelial neoplasm -GARD:19696 Thymic neuroendocrine carcinoma -GARD:19361 Thymic neuroendocrine tumor -GARD:19767 Thymic tumor -GARD:5202 Thymic-renal-anal-lung dysplasia -GARD:16922 Thymoma -GARD:20892 Thymoma type A -GARD:20894 Thymoma type AB -GARD:20893 Thymoma type B -GARD:1646 Thyrocerebrorenal syndrome -GARD:5206 Thyroid cancer, nonmedullary, 2 -GARD:15391 Thyroid cancer, nonmedullary, 3 -GARD:16132 Thyroid cancer, nonmedullary, 4 -GARD:16133 Thyroid cancer, nonmedullary, 5 -GARD:19763 Thyroid carcinoma -GARD:9428 Thyroid carcinoma, hurthle cell -GARD:15354 Thyroid carcinoma, nonmedullary, with or without cell oxyphilia -GARD:18188 Thyroid dyshormonogenesis 1 -GARD:18189 Thyroid dyshormonogenesis 2a -GARD:18190 Thyroid dyshormonogenesis 3 -GARD:18191 Thyroid dyshormonogenesis 4 -GARD:18192 Thyroid dyshormonogenesis 5 -GARD:18193 Thyroid dyshormonogenesis 6 -GARD:16841 Thyroid ectopia -GARD:16844 Thyroid hemiagenesis -GARD:8426 Thyroid hypoplasia -GARD:19359 Thyroid lymphoma -GARD:19762 Thyroid tumor -GARD:10814 Thyrotoxic periodic paralysis -GARD:15119 Thyrotoxic periodic paralysis, susceptibility to, 1 -GARD:15637 Thyrotoxic periodic paralysis, susceptibility to, 2 -GARD:15848 Thyrotoxic periodic paralysis, susceptibility to, 3 -GARD:1369 Tibial aplasia-ectrodactyly syndrome -GARD:8707 Tibial hemimelia -GARD:8309 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome -GARD:13154 Tibial muscular dystrophy -GARD:21208 Tibio-fibular synostosis -GARD:5216 Tick-borne encephalitis -GARD:7772 Tietz syndrome -GARD:9294 Timothy syndrome -GARD:22380 Timothy syndrome type 1 -GARD:22381 Timothy syndrome type 2 -GARD:12534 Titin-related limb-girdle muscular dystrophy R10 -GARD:18525 Tolchin-le caignec syndrome -GARD:7777 Tolosa-Hunt syndrome -GARD:18751 Toluene embryopathy -GARD:22695 Tonne-kalscheuer syndrome -GARD:18244 Tooth agenesis, selective, 1 -GARD:18247 Tooth agenesis, selective, 3 -GARD:18245 Tooth agenesis, selective, 4 -GARD:18248 Tooth agenesis, selective, 5 -GARD:18249 Tooth agenesis, selective, 7 -GARD:18250 Tooth agenesis, selective, 8 -GARD:18246 Tooth agenesis, selective, x-linked, 1 -GARD:5225 Toriello-Carey syndrome -GARD:10366 Toriello-Lacassie-Droste syndrome -GARD:16651 Torsade-de-pointes syndrome with short coupling interval -GARD:9631 Torsion dystonia with onset in infancy -GARD:5230 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome -GARD:19421 Total autosomal monosomy -GARD:19419 Total autosomal trisomy -GARD:1159 Total early-onset cataract -GARD:20952 Total spina bifida aperta -GARD:20959 Total spina bifida cystica -GARD:7784 Townes-Brocks syndrome -GARD:21171 Toxic dermatosis -GARD:18696 Toxic epidermal necrolysis -GARD:21061 Toxic maculopathy due to antimalarial drugs -GARD:20566 Toxic oil syndrome -GARD:20701 Toxic or drug-related embryofetopathy -GARD:20597 Toxin-mediated infectious botulism -GARD:18793 Toxocariasis -GARD:5233 Tracheal agenesis -GARD:20002 Tracheal anomaly -GARD:5235 Tracheobronchopathia osteochondroplastica -GARD:10445 Transaldolase deficiency -GARD:4522 Transcobalamin I deficiency -GARD:12338 Transcobalamin deficiency -GARD:3096 Transgrediens et progrediens palmoplantar keratoderma -GARD:20142 Transient congenital hypothyroidism -GARD:20645 Transient congenital hypothyroidism due to maternal factor -GARD:20646 Transient congenital hypothyroidism due to neonatal factor -GARD:7793 Transient erythroblastopenia of childhood -GARD:2791 Transient familial neonatal hyperbilirubinemia -GARD:21159 Transient hyperammonemia of the newborn -GARD:20112 Transient hypogammaglobulinemia of infancy -GARD:17363 Transient infantile hypertriglyceridemia and hepatosteatosis -GARD:12765 Transient myeloproliferative syndrome -GARD:1839 Transient neonatal diabetes mellitus -GARD:21498 Transient neonatal multiple acyl-CoA dehydrogenase deficiency -GARD:21625 Transient neonatal myasthenia gravis -GARD:19176 Transient pseudohypoaldosteronism -GARD:5388 Transient tyrosinemia of the newborn -GARD:20484 Transitional cell carcinoma of the corpus uteri -GARD:17894 Transketolase deficiency -GARD:7795 Transposition of the great arteries -GARD:19551 Transposition of the great arteries and conotruncal cardiac anomaly -GARD:20191 Transverse vaginal septum -GARD:21660 Traumatic avascular necrosis -GARD:15698 Treacher collins syndrome 2 -GARD:9125 Treacher collins syndrome 3 -GARD:16396 Treacher collins syndrome 4 -GARD:9124 Treacher-Collins syndrome -GARD:10372 Trehalase deficiency -GARD:17774 Tremor-ataxia-central hypomyelination syndrome -GARD:3948 Tremor-nystagmus-duodenal ulcer syndrome -GARD:18862 Trench fever -GARD:6194 Triatrial heart -GARD:20753 Tricarboxylic acid cycle disorder -GARD:5250 Trichinellosis -GARD:7799 Tricho-dento-osseous syndrome -GARD:938 Tricho-retino-dento-digital syndrome -GARD:265 Trichodental syndrome -GARD:4369 Trichodermodysplasia-dental alterations syndrome -GARD:18943 Trichodysplasia-amelogenesis imperfecta syndrome -GARD:5261 Trichodysplasia-xeroderma syndrome -GARD:10373 Trichoepithelioma, multiple familial, 2 -GARD:5263 Trichofolliculoma -GARD:15819 Trichohepatoenteric syndrome 2 -GARD:5266 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome -GARD:5267 Trichoodontoonychial dysplasia -GARD:21451 Trichorhinophalangeal syndrome -GARD:15017 Trichorhinophalangeal syndrome type 1 and 3 -GARD:7801 Trichorhinophalangeal syndrome type 2 -GARD:7800 Trichorhinophalangeal syndrome, type i -GARD:7802 Trichorhinophalangeal syndrome, type iii -GARD:12109 Trichothiodystrophy -GARD:5270 Trichothiodystrophy 1, photosensitive -GARD:16100 Trichothiodystrophy 2, photosensitive -GARD:16102 Trichothiodystrophy 3, photosensitive -GARD:5271 Trichothiodystrophy 4, nonphotosensitive -GARD:15277 Trichothiodystrophy 5, nonphotosensitive -GARD:16172 Trichothiodystrophy 6, nonphotosensitive -GARD:16362 Trichothiodystrophy 7, nonphotosensitive -GARD:5274 Tricuspid atresia -GARD:19261 Tricuspid valve agenesis -GARD:20017 Trigeminal autonomic cephalalgia -GARD:7805 Trigeminal neuralgia -GARD:22267 Triglyceride deposit cardiomyovasculopathy -GARD:18558 Trigonocephaly 1 -GARD:18559 Trigonocephaly 2 -GARD:5126 Trigonocephaly-bifid nose-acral anomalies syndrome -GARD:2756 Trigonocephaly-broad thumbs syndrome -GARD:243 Trigonocephaly-short stature-developmental delay syndrome -GARD:5286 Triopia -GARD:5287 Triose phosphate-isomerase deficiency -GARD:5290 Triphalangeal thumbs-brachyectrodactyly syndrome -GARD:457 Triple A syndrome -GARD:5295 Triploidy -GARD:2621 Trismus-pseudocamptodactyly syndrome -GARD:5299 Trisomy 10p -GARD:5305 Trisomy 12p -GARD:7341 Trisomy 13 -GARD:5318 Trisomy 17p -GARD:6321 Trisomy 18 -GARD:5323 Trisomy 18p -GARD:20781 Trisomy 1q -GARD:5333 Trisomy 20p -GARD:6091 Trisomy 4p -GARD:6093 Trisomy 5p -GARD:20920 Trisomy 8p -GARD:5362 Trisomy 8q -GARD:18683 Trisomy 9p -GARD:5672 Trisomy X -GARD:16768 Tritanopia -GARD:18928 Tropical endomyocardial fibrosis -GARD:16946 Tropical pancreatitis -GARD:8208 Tropical spastic paraparesis -GARD:21209 True congenital shoulder dislocation -GARD:20174 True unicornuate uterus -GARD:16627 Truncus arteriosus -GARD:7827 Tuberculosis -GARD:7828 Tuberculous meningitis -GARD:15121 Tuberous sclerosis 1 -GARD:15640 Tuberous sclerosis 2 -GARD:7830 Tuberous sclerosis complex -GARD:3884 Tubular aggregate myopathy -GARD:19745 Tubular duplication of the esophagus -GARD:21944 Tubulinopathy-associated dysgyria -GARD:21419 Tubulocystic renal cell carcinoma -GARD:9252 Tubulointerstitial nephritis and uveitis syndrome -GARD:425 Tufted angioma -GARD:9814 Tukel syndrome -GARD:396 Tularemia -GARD:8457 Tumor necrosis factor receptor 1 associated periodic syndrome -GARD:12697 Tumor of cranial and spinal nerves -GARD:20254 Tumor of endocrine glands -GARD:18878 Tumor of hematopoietic and lymphoid tissues -GARD:20737 Tumor of meninges -GARD:21549 Tumor of testis and paratestis -GARD:15146 Tumoral calcinosis, hyperphosphatemic, familial, 1 -GARD:16281 Tumoral calcinosis, hyperphosphatemic, familial, 2 -GARD:16282 Tumoral calcinosis, hyperphosphatemic, familial, 3 -GARD:393 Tungiasis -GARD:19621 Tunnel subaortic stenosis -GARD:16912 Turcot syndrome with polyposis -GARD:7831 Turner syndrome -GARD:19681 Turner syndrome due to structural X chromosome anomalies -GARD:22445 Twin anemia-polycythemia sequence -GARD:325 Twin to twin transfusion syndrome -GARD:22446 Twin-reversed arterial perfusion sequence -GARD:21957 Type 1 interferonopathy -GARD:21986 Type 1 interferonopathy of childhood -GARD:19187 Type 11 collagen-related bone disorder -GARD:19186 Type 2 collagen-related bone disorder -GARD:9564 Typhoid -GARD:19829 Typhus-group rickettsiosis -GARD:12822 Typical nemaline myopathy -GARD:20033 Typical urticaria pigmentosa -GARD:2658 Tyrosinemia type 1 -GARD:3105 Tyrosinemia type 2 -GARD:10332 Tyrosinemia type 3 -GARD:10679 UMOD-related autosomal dominant tubulointerstitial kidney disease -GARD:17875 USP18 deficiency -GARD:10947 UV-sensitive syndrome -GARD:5393 Uhl anomaly -GARD:5394 Ulbright-Hodes syndrome -GARD:5395 Ulerythema ophryogenesis -GARD:16120 Ullrich congenital muscular dystrophy 2 -GARD:5398 Ulna hypoplasia-intellectual disability syndrome -GARD:4740 Ulna metaphyseal dysplasia syndrome -GARD:19182 Ulnar hemimelia -GARD:5400 Ulnar hypoplasia-split foot syndrome -GARD:118 Ulnar-mammary syndrome -GARD:16654 Ulnar/fibula ray defect-brachydactyly syndrome -GARD:5403 Umbilical cord ulceration-intestinal atresia syndrome -GARD:12760 Unclassified acute myeloid leukemia -GARD:21457 Unclassified autoinflammatory syndrome -GARD:21461 Unclassified autoinflammatory syndrome of childhood -GARD:20534 Unclassified cardiomyopathy -GARD:19013 Unclassified genetic skin disorder -GARD:19854 Unclassified intestinal pseudoobstruction -GARD:19586 Unclassified myelodysplastic syndrome -GARD:19584 Unclassified myelodysplastic/myeloproliferative disease -GARD:20698 Unclassified vasculitis -GARD:5404 Uncombable hair syndrome -GARD:15122 Uncombable hair syndrome 1 -GARD:16216 Uncombable hair syndrome 2 -GARD:16217 Uncombable hair syndrome 3 -GARD:19840 Undetermined colitis -GARD:21742 Undifferentiated carcinoma of esophagus -GARD:21788 Undifferentiated carcinoma of liver and intrahepatic biliary tract -GARD:21759 Undifferentiated carcinoma of stomach -GARD:20480 Undifferentiated carcinoma of the corpus uteri -GARD:19097 Undifferentiated connective tissue syndrome -GARD:20145 Undifferentiated embryonal sarcoma of the liver -GARD:6963 Undifferentiated pleomorphic sarcoma -GARD:20699 Unexplained long-lasting fever/inflammatory syndrome -GARD:19831 Unexplained periodic fever syndrome -GARD:21462 Unexplained periodic fever syndrome of childhood -GARD:6005 Unicentric Castleman disease -GARD:20179 Unicervical bicornuate uterus -GARD:20173 Unilateral aplasia of the Müllerian ducts -GARD:19179 Unilateral congenital megacalycosis -GARD:20981 Unilateral focal polymicrogyria -GARD:19777 Unilateral hemispheric polymicrogyria -GARD:19375 Unilateral multicystic dysplastic kidney -GARD:20980 Unilateral polymicrogyria -GARD:20918 Uniparental disomy of chromosome X -GARD:19269 Univentricular cardiopathy -GARD:18725 Univentricular heart -GARD:19155 Unspecified juvenile idiopathic arthritis -GARD:20764 Unspecified mitochondrial disorder -GARD:19670 Unstable hemoglobin disease -GARD:5421 Upington disease -GARD:16602 Upper limb defect-eye and ear abnormalities syndrome -GARD:21212 Upper limb hypertrophy -GARD:2408 Upper limb mesomelic dysplasia -GARD:20957 Upper thoracic spina bifida aperta -GARD:20964 Upper thoracic spina bifida cystica -GARD:9376 Upper tract urothelial carcinoma -GARD:5425 Urachal cyst -GARD:21800 Urachal diverticulum -GARD:21799 Urachal sinus -GARD:5426 Urban-Rogers-Meyer syndrome -GARD:19246 Uremic pruritus -GARD:8539 Urocanic aciduria -GARD:15907 Urofacial syndrome 2 -GARD:19029 Urogenital tract malformation -GARD:7843 Usher syndrome -GARD:5435 Usher syndrome type 1 -GARD:5440 Usher syndrome type 2 -GARD:5442 Usher syndrome type 3 -GARD:16370 Usher syndrome, type 1m -GARD:5436 Usher syndrome, type i -GARD:5437 Usher syndrome, type ic -GARD:5438 Usher syndrome, type id -GARD:5439 Usher syndrome, type ie -GARD:10043 Usher syndrome, type if -GARD:15404 Usher syndrome, type ig -GARD:15573 Usher syndrome, type ih -GARD:15241 Usher syndrome, type iia -GARD:8497 Usher syndrome, type iic -GARD:15514 Usher syndrome, type iid -GARD:15242 Usher syndrome, type iiia -GARD:15813 Usher syndrome, type iiib -GARD:15863 Usher syndrome, type ij -GARD:15890 Usher syndrome, type ik -GARD:20186 Uterine cervical aplasia and agenesis -GARD:20184 Uterine hypoplasia -GARD:20170 Uterovaginal malformation -GARD:15320 Uv-sensitive syndrome 1 -GARD:15827 Uv-sensitive syndrome 2 -GARD:15828 Uv-sensitive syndrome 3 -GARD:1440 Uveal coloboma-cleft lip and palate-intellectual disability -GARD:8621 Uveal melanoma -GARD:19549 Uveitis -GARD:272 VACTERL with hydrocephalus -GARD:5443 VACTERL/VATER association -GARD:15001 VEXAS syndrome -GARD:3787 VIPoma -GARD:17837 VPS11-related autosomal recessive hypomyelinating leukodystrophy -GARD:15309 Vacterl association, x-linked, with or without hydrocephalus -GARD:16770 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates -GARD:18867 Vaginal atresia -GARD:9348 Vaginal carcinoma -GARD:19622 Valvular pulmonary stenosis -GARD:5453 Van den Bosch syndrome -GARD:3382 Van den Ende-Gupta syndrome -GARD:8414 Van der Woude syndrome -GARD:15370 Van der woude syndrome 1, modifier of -GARD:7846 Van der woude syndrome 2 -GARD:15984 Van maldergem syndrome 2 -GARD:21894 Variably protease-sensitive prionopathy -GARD:21382 Variant ABeta2M amyloidosis -GARD:9550 Variant Creutzfeldt-Jakob disease -GARD:20611 Variant of Guillain-Barré syndrome -GARD:15243 Vas deferens, congenital bilateral aplasia of -GARD:15279 Vas deferens, congenital bilateral aplasia of, x-linked -GARD:2082 Vascular Ehlers-Danlos syndrome -GARD:18894 Vascular anomaly or angioma -GARD:21913 Vascular tumor with associated anomalies -GARD:18844 Vasculitis -GARD:12383 Vasculitis due to ADA2 deficiency -GARD:21533 Vasoproliferative tumor of the retina -GARD:22223 Vegetative pyoderma gangrenosum -GARD:5467 Vein of Galen aneurysmal malformation -GARD:5469 Velo-facial-skeletal syndrome -GARD:15123 Velocardiofacial syndrome -GARD:21413 Venezuelan hemorrhagic fever -GARD:21536 Venous thoracic outlet syndrome -GARD:22051 Ventilator-induced diaphragmatic dysfunction -GARD:5472 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome -GARD:15596 Ventricular fibrillation, paroxysmal familial, 2 -GARD:15535 Ventricular tachycardia, catecholaminergic polymorphic, 2 -GARD:15744 Ventricular tachycardia, catecholaminergic polymorphic, 3 -GARD:15880 Ventricular tachycardia, catecholaminergic polymorphic, 4 -GARD:17757 Ventriculomegaly-cystic kidney disease -GARD:5482 Verloove Vanhorick-Brubakk syndrome -GARD:7854 Vernal keratoconjunctivitis -GARD:21927 Verrucous hemangioma -GARD:19020 Verrucous nevus -GARD:18508 Vertebral, cardiac, renal, and limb defects syndrome 1 -GARD:18509 Vertebral, cardiac, renal, and limb defects syndrome 2 -GARD:18510 Vertebral, cardiac, renal, and limb defects syndrome 3 -GARD:5508 Very long chain acyl-CoA dehydrogenase deficiency -GARD:18418 Vesicoureteral reflux 1 -GARD:18419 Vesicoureteral reflux 2 -GARD:18420 Vesicoureteral reflux 3 -GARD:18421 Vesicoureteral reflux 4 -GARD:18422 Vesicoureteral reflux 5 -GARD:18423 Vesicoureteral reflux 6 -GARD:18424 Vesicoureteral reflux 7 -GARD:18425 Vesicoureteral reflux 8 -GARD:223 Vestibular schwannoma -GARD:17901 Vibratory angioedema -GARD:9806 Vibratory urticaria -GARD:448 Vici syndrome -GARD:5494 Viral hemorrhagic fever -GARD:20377 Viral myositis -GARD:20592 Virus-associated trichodysplasia spinulosa -GARD:21071 Visceral calciphylaxis -GARD:19392 Visceral malformation of the liver, biliary tract, pancreas or spleen -GARD:16446 Visceral myopathy 2 -GARD:18923 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome -GARD:12062 Visual snow syndrome -GARD:19464 Vitamin B12- and folate-independent constitutional megaloblastic anemia -GARD:12623 Vitamin B12-responsive methylmalonic acidemia -GARD:5500 Vitamin B12-responsive methylmalonic acidemia type cblA -GARD:9479 Vitamin B12-responsive methylmalonic acidemia type cblB -GARD:17391 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 -GARD:3586 Vitamin B12-unresponsive methylmalonic acidemia -GARD:16714 Vitamin B12-unresponsive methylmalonic acidemia type mut- -GARD:17335 Vitamin B12-unresponsive methylmalonic acidemia type mut0 -GARD:8580 Vitamin K antagonist embryofetopathy -GARD:18636 Vitamin d hydroxylation-deficient rickets, type 1a -GARD:18415 Vitamin d hydroxylation-deficient rickets, type 1b -GARD:18169 Vitamin d-dependent rickets, type 2a -GARD:18170 Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor -GARD:18171 Vitamin d-dependent rickets, type 3 -GARD:18195 Vitamin k-dependent clotting factors, combined deficiency of, 1 -GARD:18196 Vitamin k-dependent clotting factors, combined deficiency of, 2 -GARD:19539 Vitreoretinopathy -GARD:1887 Vocal cord and pharyngeal distal myopathy -GARD:7862 Vogt-Koyanagi-Harada disease -GARD:7855 Von Hippel-Lindau disease -GARD:1894 Von Voss-Cherstvoy syndrome -GARD:7867 Von Willebrand disease -GARD:17019 Von Willebrand disease type 1 -GARD:17020 Von Willebrand disease type 2 -GARD:17021 Von Willebrand disease type 2A -GARD:17022 Von Willebrand disease type 2B -GARD:17023 Von Willebrand disease type 2M -GARD:17024 Von Willebrand disease type 2N -GARD:17025 Von Willebrand disease type 3 -GARD:16467 Vulto-van silfhout-de vries syndrome -GARD:22007 Vulvar adenocarcinoma -GARD:22006 Vulvar basal cell carcinoma -GARD:9349 Vulvar carcinoma -GARD:19876 Vulvar intraepithelial neoplasia -GARD:22005 Vulvar squamous cell carcinoma -GARD:19037 Vulvovaginal gingival syndrome -GARD:20348 Vulvovaginal rhabdomyosarcoma -GARD:358 W syndrome -GARD:17838 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome -GARD:5528 WAGR syndrome -GARD:18012 WARS2-related combined oxidative phosphorylation defect -GARD:9297 WHIM syndrome -GARD:39 WT limb-blood syndrome -GARD:5525 Waardenburg syndrome -GARD:5519 Waardenburg syndrome type 1 -GARD:5520 Waardenburg syndrome type 2 -GARD:5523 Waardenburg syndrome type 3 -GARD:5522 Waardenburg syndrome, type 2b -GARD:15396 Waardenburg syndrome, type 2c -GARD:15444 Waardenburg syndrome, type 2d -GARD:15521 Waardenburg syndrome, type 2e -GARD:15245 Waardenburg syndrome, type 4a -GARD:15641 Waardenburg syndrome, type 4b -GARD:15642 Waardenburg syndrome, type 4c -GARD:5524 Waardenburg-Shah syndrome -GARD:7871 Wagner disease -GARD:7872 Waldenström macroglobulinemia -GARD:2599 Walker-Warburg syndrome -GARD:15780 Warburg micro syndrome 2 -GARD:15778 Warburg micro syndrome 3 -GARD:15998 Warburg micro syndrome 4 -GARD:15007 Warburg-Cinotti syndrome -GARD:13708 Warsaw breakage syndrome -GARD:22300 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome -GARD:18899 Warty dyskeratoma -GARD:9449 Waterhouse-Friderichsen syndrome -GARD:7878 Weaver syndrome -GARD:5545 Weaver-Williams syndrome -GARD:4936 Weill-Marchesani syndrome -GARD:15246 Weill-marchesani syndrome 1 -GARD:15428 Weill-marchesani syndrome 2 -GARD:15844 Weill-marchesani syndrome 3 -GARD:5232 Weismann-Netter syndrome -GARD:21120 Well-differentiated fetal adenocarcinoma of the lung -GARD:19721 Well-differentiated liposarcoma -GARD:20895 Well-differentiated thymic neuroendocrine carcinoma -GARD:329 Wells syndrome -GARD:7885 Werner syndrome -GARD:15483 West nile virus, susceptibility to -GARD:9959 West-Nile encephalitis -GARD:7888 Western equine encephalitis -GARD:7889 Whipple disease -GARD:10024 Whistling face syndrome, recessive form -GARD:20587 White fibrous papulosis of the neck -GARD:10081 White forelock with malformations -GARD:5560 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome -GARD:9282 White platelet syndrome -GARD:8501 White sponge nevus -GARD:16012 White sponge nevus 2 -GARD:13774 White-Sutton syndrome -GARD:8692 Whooping cough -GARD:330 Wiedemann-Rautenstrauch syndrome -GARD:5565 Wiedemann-Steiner syndrome -GARD:19065 Wild type ABeta2M amyloidosis -GARD:21501 Wild type ATTR amyloidosis -GARD:5569 Wildervanck syndrome -GARD:7891 Williams syndrome -GARD:21731 Williams-Campbell syndrome -GARD:15124 Wilms tumor 1 -GARD:8559 Wilms tumor 2 -GARD:15125 Wilms tumor 3 -GARD:15328 Wilms tumor 4 -GARD:15336 Wilms tumor 5 -GARD:16162 Wilms tumor 6 -GARD:15559 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome -GARD:7893 Wilson disease -GARD:5579 Wilson-Turner syndrome -GARD:7894 Winchester syndrome -GARD:7895 Wiskott-Aldrich syndrome -GARD:15809 Wiskott-aldrich syndrome 2 -GARD:15325 Wiskott-aldrich syndrome, autosomal dominant -GARD:22043 Witteveen-Kolk syndrome -GARD:5589 Wolcott-Rallison syndrome -GARD:7896 Wolf-Hirschhorn syndrome -GARD:7898 Wolfram syndrome -GARD:15374 Wolfram syndrome 2 -GARD:15313 Wolfram syndrome, mitochondrial form -GARD:17683 Wolfram-like syndrome -GARD:7899 Wolman disease -GARD:5592 Woodhouse-Sakati syndrome -GARD:5597 Woolly hair -GARD:13025 Woolly hair nevus -GARD:16157 Woolly hair, autosomal recessive 3 -GARD:17697 Woolly hair-palmoplantar keratoderma syndrome -GARD:10290 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia -GARD:5598 Worster-Drought syndrome -GARD:20149 Wound botulism -GARD:20065 Wound myiasis -GARD:273 Wrinkly skin syndrome -GARD:7900 Wyburn-Mason syndrome -GARD:20914 X and Y chromosomal anomaly -GARD:20907 X chromosome number anomaly -GARD:20908 X chromosome number anomaly with female phenotype -GARD:20909 X chromosome number anomaly with male phenotype -GARD:19345 X small rings -GARD:16774 X-linked Alport syndrome -GARD:2432 X-linked Alport syndrome-diffuse leiomyomatosis -GARD:12444 X-linked Charcot-Marie-Tooth disease -GARD:1258 X-linked Charcot-Marie-Tooth disease type 1 -GARD:1243 X-linked Charcot-Marie-Tooth disease type 2 -GARD:1244 X-linked Charcot-Marie-Tooth disease type 3 -GARD:1240 X-linked Charcot-Marie-Tooth disease type 4 -GARD:114 X-linked Charcot-Marie-Tooth disease type 5 -GARD:12445 X-linked Charcot-Marie-Tooth disease type 6 -GARD:8505 X-linked Ehlers-Danlos syndrome -GARD:2102 X-linked Emery-Dreifuss muscular dystrophy -GARD:17370 X-linked acrogigantism -GARD:555 X-linked adrenal hypoplasia congenita -GARD:5758 X-linked adrenoleukodystrophy -GARD:1033 X-linked agammaglobulinemia -GARD:1058 X-linked calvarial hyperostosis -GARD:17499 X-linked central congenital hypothyroidism with late-onset testicular enlargement -GARD:11925 X-linked centronuclear myopathy -GARD:20665 X-linked cerebellar ataxia -GARD:9412 X-linked cerebral adrenoleukodystrophy -GARD:17006 X-linked cerebral-cerebellar-coloboma syndrome -GARD:1394 X-linked cleft palate and ankyloglossia -GARD:17709 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome -GARD:19599 X-linked complex spastic paraplegia -GARD:12526 X-linked complicated corpus callosum dysgenesis -GARD:12525 X-linked complicated spastic paraplegia type 1 -GARD:16782 X-linked cone dysfunction syndrome with myopia -GARD:2863 X-linked congenital generalized hypertrichosis -GARD:2580 X-linked corneal dermoid -GARD:1608 X-linked creatine transporter deficiency -GARD:21724 X-linked distal hereditary motor neuropathy -GARD:16957 X-linked distal spinal muscular atrophy type 3 -GARD:6189 X-linked dominant chondrodysplasia punctata -GARD:17007 X-linked dominant chondrodysplasia, Chassaing-Lacombe type -GARD:17574 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia -GARD:10533 X-linked dystonia-parkinsonism -GARD:17339 X-linked endothelial corneal dystrophy -GARD:16748 X-linked epilepsy-learning disabilities-behavior disorders syndrome -GARD:17755 X-linked erythropoietic protoporphyria -GARD:17926 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome -GARD:13638 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability -GARD:12731 X-linked hereditary sensory and autonomic neuropathy with deafness -GARD:73 X-linked hyper-IgM syndrome -GARD:10427 X-linked hypohidrotic ectodermal dysplasia -GARD:12943 X-linked hypophosphatemia -GARD:21109 X-linked ichthyosis syndrome -GARD:10907 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia -GARD:274 X-linked immunoneurologic disorder -GARD:17581 X-linked intellectual disability due to GRIA3 mutations -GARD:16677 X-linked intellectual disability with isolated growth hormone deficiency -GARD:9157 X-linked intellectual disability, Abidi type -GARD:16742 X-linked intellectual disability, Armfield type -GARD:13244 X-linked intellectual disability, Cabezas type -GARD:16743 X-linked intellectual disability, Cantagrel type -GARD:20054 X-linked intellectual disability, Cilliers type -GARD:19241 X-linked intellectual disability, Golabi-Ito-Hall type -GARD:16834 X-linked intellectual disability, Hedera type -GARD:9984 X-linked intellectual disability, Miles-Carpenter type -GARD:12669 X-linked intellectual disability, Najm type -GARD:17005 X-linked intellectual disability, Nascimento type -GARD:19056 X-linked intellectual disability, Pai type -GARD:19239 X-linked intellectual disability, Porteous type -GARD:9288 X-linked intellectual disability, Schimke type -GARD:19057 X-linked intellectual disability, Seemanova type -GARD:4119 X-linked intellectual disability, Shashi type -GARD:16751 X-linked intellectual disability, Shrimpton type -GARD:9704 X-linked intellectual disability, Siderius type -GARD:5615 X-linked intellectual disability, Snyder type -GARD:19058 X-linked intellectual disability, Stevenson type -GARD:1133 X-linked intellectual disability, Stocco Dos Santos type -GARD:19059 X-linked intellectual disability, Stoll type -GARD:19242 X-linked intellectual disability, Sutherland-Haan type -GARD:17008 X-linked intellectual disability, Van Esch type -GARD:16747 X-linked intellectual disability, Wilson type -GARD:8520 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome -GARD:19060 X-linked intellectual disability-acromegaly-hyperactivity syndrome -GARD:19063 X-linked intellectual disability-ataxia-apraxia syndrome -GARD:17485 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome -GARD:9947 X-linked intellectual disability-cerebellar hypoplasia syndrome -GARD:17815 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome -GARD:17009 X-linked intellectual disability-craniofacioskeletal syndrome -GARD:16745 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome -GARD:4482 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome -GARD:16584 X-linked intellectual disability-epilepsy syndrome -GARD:19054 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome -GARD:17872 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome -GARD:19053 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome -GARD:345 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome -GARD:16752 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome -GARD:12715 X-linked intellectual disability-hypotonia-movement disorder syndrome -GARD:21752 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome -GARD:19055 X-linked intellectual disability-macrocephaly-macroorchidism syndrome -GARD:2765 X-linked intellectual disability-plagiocephaly syndrome -GARD:3506 X-linked intellectual disability-psychosis-macroorchidism syndrome -GARD:8360 X-linked intellectual disability-retinitis pigmentosa syndrome -GARD:5238 X-linked intellectual disability-seizures-psoriasis syndrome -GARD:17800 X-linked intellectual disability-short stature-overweight syndrome -GARD:21990 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome -GARD:4573 X-linked lethal multiple pterygium syndrome -GARD:12491 X-linked lissencephaly with abnormal genitalia -GARD:10915 X-linked lymphoproliferative disease -GARD:7906 X-linked lymphoproliferative disease due to SH2D1A deficiency -GARD:10916 X-linked lymphoproliferative disease due to XIAP deficiency -GARD:1002 X-linked mandibulofacial dysostosis -GARD:17464 X-linked mendelian susceptibility to mycobacterial diseases -GARD:17465 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency -GARD:12915 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency -GARD:17721 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome -GARD:3892 X-linked myopathy with excessive autophagy -GARD:17081 X-linked myopathy with postural muscle atrophy -GARD:17792 X-linked myotubular myopathy-abnormal genitalia syndrome -GARD:19061 X-linked neurodegenerative syndrome, Bertini type -GARD:19062 X-linked neurodegenerative syndrome, Hamel type -GARD:17439 X-linked non progressive cerebellar ataxia -GARD:18640 X-linked non-syndromic intellectual disability -GARD:16790 X-linked non-syndromic sensorineural deafness type DFN -GARD:17614 X-linked osteoporosis with fractures -GARD:17567 X-linked parkinsonism-spasticity syndrome -GARD:16558 X-linked progressive cerebellar ataxia -GARD:21428 X-linked pure spastic paraplegia -GARD:8471 X-linked recessive ocular albinism -GARD:16756 X-linked reticulate pigmentary disorder -GARD:4680 X-linked retinal dysplasia -GARD:4690 X-linked retinoschisis -GARD:7608 X-linked scapuloperoneal muscular dystrophy -GARD:3981 X-linked severe congenital neutropenia -GARD:22490 X-linked severe syndromic thoracic aortic aneurysm and dissection -GARD:9456 X-linked sideroblastic anemia -GARD:668 X-linked sideroblastic anemia and spinocerebellar ataxia -GARD:3520 X-linked skeletal dysplasia-intellectual disability syndrome -GARD:9585 X-linked spastic paraplegia type 16 -GARD:17063 X-linked spastic paraplegia type 34 -GARD:16622 X-linked spasticity-intellectual disability-epilepsy syndrome -GARD:9981 X-linked spinocerebellar ataxia type 3 -GARD:9980 X-linked spinocerebellar ataxia type 4 -GARD:4979 X-linked spondyloepimetaphyseal dysplasia -GARD:5176 X-linked thrombocytopenia with normal platelets -GARD:8591 X-linked visceral heterotaxy 1 -GARD:424 XK aprosencephaly syndrome -GARD:2541 XY type gonadal dysgenesis-associated anomalies syndrome -GARD:21599 XYLT1-CDG -GARD:5621 Xanthinuria type I -GARD:5620 Xanthinuria type II -GARD:13186 Xanthoma disseminatum -GARD:18613 Xanthomatosis, susceptibility to -GARD:7910 Xeroderma pigmentosum -GARD:5630 Xeroderma pigmentosum variant -GARD:5624 Xeroderma pigmentosum, complementation group a -GARD:5625 Xeroderma pigmentosum, complementation group b -GARD:5626 Xeroderma pigmentosum, complementation group c -GARD:16452 Xeroderma pigmentosum, complementation group d -GARD:5627 Xeroderma pigmentosum, complementation group e -GARD:5628 Xeroderma pigmentosum, complementation group f -GARD:5629 Xeroderma pigmentosum, complementation group g -GARD:17130 Xeroderma pigmentosum-Cockayne syndrome complex -GARD:17246 Xp21 deletion syndrome -GARD:21117 Xp22.13p22.2 duplication syndrome -GARD:18733 Xp22.3 microdeletion syndrome -GARD:21369 Xq12-q13.3 duplication syndrome -GARD:369 Xq21 microdeletion syndrome -GARD:17955 Xq25 microduplication syndrome -GARD:17247 Xq27.3q28 duplication syndrome -GARD:20913 Y chromosome number anomaly -GARD:7914 Yellow fever -GARD:184 Yellow nail syndrome -GARD:348 Yolk sac tumor -GARD:20733 Yolk sac tumor of central nervous system -GARD:17421 Young adult-onset distal hereditary motor neuropathy -GARD:341 Young syndrome -GARD:16610 Young-onset Parkinson disease -GARD:331 Yunis-Varon syndrome -GARD:19354 Zebra body myopathy -GARD:10582 Zechi-Ceide syndrome -GARD:7917 Zellweger syndrome -GARD:18841 Zellweger-like syndrome without peroxisomal anomalies -GARD:12894 Zika virus disease -GARD:385 Zimmermann-Laband syndrome -GARD:15071 Zimmermann-laband syndrome 1 -GARD:16115 Zimmermann-laband syndrome 2 -GARD:16371 Zimmermann-laband syndrome 3 -GARD:21825 Zinc-responsive necrolytic acral erythema -GARD:7918 Zollinger-Ellison syndrome -GARD:17357 Zygodactyly type 1 -GARD:21214 Zygodactyly type 2 -GARD:21215 Zygodactyly type 3 -GARD:21216 Zygodactyly type 4 -GARD:10224 Zygomycosis -GARD:10574 Åland Islands eye disease diff --git a/src/ontology/reports/mirror_signature-gard.tsv b/src/ontology/reports/mirror_signature-gard.tsv deleted file mode 100644 index 1784ddc9..00000000 --- a/src/ontology/reports/mirror_signature-gard.tsv +++ /dev/null @@ -1,12005 +0,0 @@ -?term - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 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- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 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- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - diff --git a/src/ontology/slurp/gard.tsv b/src/ontology/slurp/gard.tsv deleted file mode 100644 index 602972ee..00000000 --- a/src/ontology/slurp/gard.tsv +++ /dev/null @@ -1,9372 +0,0 @@ -mondo_id mondo_label xref xref_source original_label definition parents -ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % -MONDO:0860072 gracile syndrome GARD:1 MONDO:equivalentTo GRACILE syndrome -MONDO:0860073 spinocerebellar ataxia with axonal neuropathy type 1 GARD:10000 MONDO:equivalentTo Spinocerebellar ataxia with axonal neuropathy type 1 -MONDO:0860074 congenital chloride diarrhea GARD:10001 MONDO:equivalentTo Congenital chloride diarrhea -MONDO:0860075 familial progressive cardiac conduction defect GARD:10005 MONDO:equivalentTo Familial progressive cardiac conduction defect -MONDO:0860076 opsoclonus-myoclonus syndrome GARD:10009 MONDO:equivalentTo Opsoclonus-myoclonus syndrome -MONDO:0860077 self-improving dystrophic epidermolysis bullosa GARD:10010 MONDO:equivalentTo Self-improving dystrophic epidermolysis bullosa -MONDO:0860078 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome GARD:10011 MONDO:equivalentTo Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome -MONDO:0860079 camptodactyly-tall stature-scoliosis-hearing loss syndrome GARD:10012 MONDO:equivalentTo Camptodactyly-tall stature-scoliosis-hearing loss syndrome -MONDO:0860080 pellagra GARD:10014 MONDO:equivalentTo Pellagra -MONDO:0860081 fuchs endothelial corneal dystrophy GARD:10018 MONDO:equivalentTo Fuchs endothelial corneal dystrophy -MONDO:0860082 x-linked mandibulofacial dysostosis GARD:1002 MONDO:equivalentTo X-linked mandibulofacial dysostosis -MONDO:0860083 anterior segment developmental anomaly GARD:10025 MONDO:equivalentTo Anterior segment developmental anomaly -MONDO:0860084 campomelic dysplasia GARD:10027 MONDO:equivalentTo Campomelic dysplasia -MONDO:0860085 benign recurrent intrahepatic cholestasis type 1 GARD:10028 MONDO:equivalentTo Benign recurrent intrahepatic cholestasis type 1 -MONDO:0860086 benign recurrent intrahepatic cholestasis type 2 GARD:10029 MONDO:equivalentTo Benign recurrent intrahepatic cholestasis type 2 -MONDO:0860087 congenital trigeminal anesthesia GARD:10034 MONDO:equivalentTo Congenital trigeminal anesthesia -MONDO:0860088 familial encephalopathy with neuroserpin inclusion bodies GARD:10037 MONDO:equivalentTo Familial encephalopathy with neuroserpin inclusion bodies -MONDO:0860089 hydroxykynureninuria GARD:10039 MONDO:equivalentTo Hydroxykynureninuria -MONDO:0860090 burn-mckeown syndrome GARD:10041 MONDO:equivalentTo Burn-McKeown syndrome -MONDO:0860091 congenital bile acid synthesis defect type 2 GARD:10045 MONDO:equivalentTo Congenital bile acid synthesis defect type 2 -MONDO:0860092 congenital bile acid synthesis defect type 4 GARD:10046 MONDO:equivalentTo Congenital bile acid synthesis defect type 4 -MONDO:0860093 glutathione synthetase deficiency GARD:10047 MONDO:equivalentTo Glutathione synthetase deficiency -MONDO:0860094 isolated congenital anonychia GARD:10048 MONDO:equivalentTo Isolated congenital anonychia -MONDO:0860095 central areolar choroidal dystrophy GARD:10049 MONDO:equivalentTo Central areolar choroidal dystrophy -MONDO:0860096 bietti crystalline dystrophy GARD:10050 MONDO:equivalentTo Bietti crystalline dystrophy -MONDO:0860097 limb-mammary syndrome GARD:10051 MONDO:equivalentTo Limb-mammary syndrome -MONDO:0860098 lipomyelomeningocele GARD:10053 MONDO:equivalentTo Lipomyelomeningocele -MONDO:0860099 eye defects-arachnodactyly-cardiopathy syndrome GARD:10054 MONDO:equivalentTo Eye defects-arachnodactyly-cardiopathy syndrome -MONDO:0860100 mandibulofacial dysostosis-microcephaly syndrome GARD:10056 MONDO:equivalentTo Mandibulofacial dysostosis-microcephaly syndrome -MONDO:0860101 spondyloepimetaphyseal dysplasia, geneviève type GARD:10057 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, Geneviève type -MONDO:0860102 talo-patello-scaphoid osteolysis GARD:10061 MONDO:equivalentTo Talo-patello-scaphoid osteolysis -MONDO:0860103 overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome GARD:10066 MONDO:equivalentTo Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome -MONDO:0860104 subependymoma GARD:10070 MONDO:equivalentTo Subependymoma -MONDO:0860105 diaphyseal medullary stenosis-bone malignancy syndrome GARD:10072 MONDO:equivalentTo Diaphyseal medullary stenosis-bone malignancy syndrome -MONDO:0860106 white forelock with malformations GARD:10081 MONDO:equivalentTo White forelock with malformations -MONDO:0860107 infantile osteopetrosis with neuroaxonal dysplasia GARD:10082 MONDO:equivalentTo Infantile osteopetrosis with neuroaxonal dysplasia -MONDO:0860108 hepatic veno-occlusive disease-immunodeficiency syndrome GARD:10083 MONDO:equivalentTo Hepatic veno-occlusive disease-immunodeficiency syndrome -MONDO:0860109 hemifacial myohyperplasia GARD:10084 MONDO:equivalentTo Hemifacial myohyperplasia -MONDO:0860110 majeed syndrome GARD:10088 MONDO:equivalentTo Majeed syndrome -MONDO:0860111 tarp syndrome GARD:10089 MONDO:equivalentTo TARP syndrome -MONDO:0860112 sotos syndrome GARD:10091 MONDO:equivalentTo Sotos syndrome -MONDO:0860113 hemochromatosis type 2 GARD:10092 MONDO:equivalentTo Hemochromatosis type 2 -MONDO:0860114 hemochromatosis type 3 GARD:10093 MONDO:equivalentTo Hemochromatosis type 3 -MONDO:0860115 hemochromatosis type 4 GARD:10094 MONDO:equivalentTo Hemochromatosis type 4 -MONDO:0860116 hereditary leiomyomatosis and renal cell cancer GARD:10096 MONDO:equivalentTo Hereditary leiomyomatosis and renal cell cancer -MONDO:0860117 gamma-glutamyl transpeptidase deficiency GARD:10099 MONDO:equivalentTo Gamma-glutamyl transpeptidase deficiency -MONDO:0860118 centronuclear myopathy GARD:101 MONDO:equivalentTo Centronuclear myopathy -MONDO:0860119 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome GARD:10101 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome -MONDO:0860120 elastosis perforans serpiginosa GARD:10103 MONDO:equivalentTo Elastosis perforans serpiginosa -MONDO:0860121 osteopetrosis-hypogammaglobulinemia syndrome GARD:10106 MONDO:equivalentTo Osteopetrosis-hypogammaglobulinemia syndrome -MONDO:0860122 cornelia de lange syndrome GARD:10109 MONDO:equivalentTo Cornelia de Lange syndrome -MONDO:0860123 ichthyosis-hypotrichosis syndrome GARD:10116 MONDO:equivalentTo Ichthyosis-hypotrichosis syndrome -MONDO:0860124 oguchi disease GARD:10118 MONDO:equivalentTo Oguchi disease -MONDO:0860125 morm syndrome GARD:10121 MONDO:equivalentTo MORM syndrome -MONDO:0860126 progressive bifocal chorioretinal atrophy GARD:10123 MONDO:equivalentTo Progressive bifocal chorioretinal atrophy -MONDO:0860127 gm1 gangliosidosis type 2 GARD:10126 MONDO:equivalentTo GM1 gangliosidosis type 2 -MONDO:0860128 leydig cell hypoplasia due to lhb deficiency GARD:10127 MONDO:equivalentTo Leydig cell hypoplasia due to LHB deficiency -MONDO:0860129 isolated follicle stimulating hormone deficiency GARD:10128 MONDO:equivalentTo Isolated follicle stimulating hormone deficiency -MONDO:0860130 isolated thyroid-stimulating hormone deficiency GARD:10129 MONDO:equivalentTo Isolated thyroid-stimulating hormone deficiency -MONDO:0860131 monosomy 22q13.3 GARD:10130 MONDO:equivalentTo Monosomy 22q13.3 -MONDO:0860132 hereditary motor and sensory neuropathy, okinawa type GARD:10131 MONDO:equivalentTo Hereditary motor and sensory neuropathy, Okinawa type -MONDO:0860133 charcot-marie-tooth disease type 4g GARD:10132 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4G -MONDO:0860134 distal hereditary motor neuropathy, jerash type GARD:10133 MONDO:equivalentTo Distal hereditary motor neuropathy, Jerash type -MONDO:0860135 primary dystonia, dyt4 type GARD:10138 MONDO:equivalentTo Primary dystonia, DYT4 type -MONDO:0860136 bohring-opitz syndrome GARD:10140 MONDO:equivalentTo Bohring-Opitz syndrome -MONDO:0860137 osteogenesis imperfecta type 2 GARD:10142 MONDO:equivalentTo Osteogenesis imperfecta type 2 -MONDO:0860138 dentinogenesis imperfecta type 3 GARD:10144 MONDO:equivalentTo Dentinogenesis imperfecta type 3 -MONDO:0860139 17p11.2 microduplication syndrome GARD:10145 MONDO:equivalentTo 17p11.2 microduplication syndrome -MONDO:0860140 bor syndrome GARD:10147 MONDO:equivalentTo BOR syndrome -MONDO:0860141 branchiootic syndrome GARD:10148 MONDO:equivalentTo Branchiootic syndrome -MONDO:0860142 kyphomelic dysplasia GARD:10149 MONDO:equivalentTo Kyphomelic dysplasia -MONDO:0860143 pulmonary venoocclusive disease GARD:10153 MONDO:equivalentTo Pulmonary venoocclusive disease -MONDO:0860144 congenital chylothorax GARD:10156 MONDO:equivalentTo Congenital chylothorax -MONDO:0860145 curly hair-acral keratoderma-caries syndrome GARD:10163 MONDO:equivalentTo Curly hair-acral keratoderma-caries syndrome -MONDO:0860146 joubert syndrome with ocular defect GARD:10168 MONDO:equivalentTo Joubert syndrome with ocular defect -MONDO:0860147 joubert syndrome with renal defect GARD:10169 MONDO:equivalentTo Joubert syndrome with renal defect -MONDO:0860148 osteogenesis imperfecta GARD:1017 MONDO:equivalentTo Osteogenesis imperfecta -MONDO:0860149 florid cemento-osseous dysplasia GARD:10173 MONDO:equivalentTo Florid cemento-osseous dysplasia -MONDO:0860150 klatskin tumor GARD:10175 MONDO:equivalentTo Klatskin tumor -MONDO:0860151 mirizzi syndrome GARD:10177 MONDO:equivalentTo Mirizzi syndrome -MONDO:0860152 brooke-spiegler syndrome GARD:10179 MONDO:equivalentTo Brooke-Spiegler syndrome -MONDO:0860153 epithelioid sarcoma GARD:10181 MONDO:equivalentTo Epithelioid sarcoma -MONDO:0860154 hereditary cryohydrocytosis with normal stomatin GARD:10184 MONDO:equivalentTo Hereditary cryohydrocytosis with normal stomatin -MONDO:0860155 brittle cornea syndrome GARD:1019 MONDO:equivalentTo Brittle cornea syndrome -MONDO:0860156 isolated focal cortical dysplasia type ii GARD:10190 MONDO:equivalentTo Isolated focal cortical dysplasia type II -MONDO:0860157 subcutaneous panniculitis-like t-cell lymphoma GARD:10193 MONDO:equivalentTo Subcutaneous panniculitis-like T-cell lymphoma -MONDO:0860158 early-onset x-linked optic atrophy GARD:10199 MONDO:equivalentTo Early-onset X-linked optic atrophy -MONDO:0860159 neu-laxova syndrome GARD:102 MONDO:equivalentTo Neu-Laxova syndrome -MONDO:0860160 2q37 microdeletion syndrome GARD:10202 MONDO:equivalentTo 2q37 microdeletion syndrome -MONDO:0860161 autosomal dominant optic atrophy and cataract GARD:10203 MONDO:equivalentTo Autosomal dominant optic atrophy and cataract -MONDO:0860162 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 GARD:10213 MONDO:equivalentTo Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 -MONDO:0860163 neonatal intrahepatic cholestasis due to citrin deficiency GARD:10214 MONDO:equivalentTo Neonatal intrahepatic cholestasis due to citrin deficiency -MONDO:0860164 citrullinemia type ii GARD:10215 MONDO:equivalentTo Citrullinemia type II -MONDO:0860165 nde1-related microhydranencephaly GARD:10216 MONDO:equivalentTo NDE1-related microhydranencephaly -MONDO:0860166 spondyloepiphyseal dysplasia with metatarsal shortening GARD:10220 MONDO:equivalentTo Spondyloepiphyseal dysplasia with metatarsal shortening -MONDO:0860167 hnf1b-related autosomal dominant tubulointerstitial kidney disease GARD:10221 MONDO:equivalentTo HNF1B-related autosomal dominant tubulointerstitial kidney disease -MONDO:0860168 isobutyryl-coa dehydrogenase deficiency GARD:10223 MONDO:equivalentTo Isobutyryl-CoA dehydrogenase deficiency -MONDO:0860169 zygomycosis GARD:10224 MONDO:equivalentTo Zygomycosis -MONDO:0860170 multiple endocrine neoplasia type 2b GARD:10225 MONDO:equivalentTo Multiple endocrine neoplasia type 2B -MONDO:0860171 cog1-cdg GARD:10226 MONDO:equivalentTo COG1-CDG -MONDO:0860172 autosomal dominant limb-girdle muscular dystrophy type 1a GARD:10229 MONDO:equivalentTo Autosomal dominant limb-girdle muscular dystrophy type 1A -MONDO:0860173 biotin-thiamine-responsive basal ganglia disease GARD:10237 MONDO:equivalentTo Biotin-thiamine-responsive basal ganglia disease -MONDO:0860174 myostatin-related muscle hypertrophy GARD:10238 MONDO:equivalentTo Myostatin-related muscle hypertrophy -MONDO:0860175 h syndrome GARD:10239 MONDO:equivalentTo H syndrome -MONDO:0860176 familial lipase maturation factor 1 deficiency GARD:10244 MONDO:equivalentTo Familial lipase maturation factor 1 deficiency -MONDO:0860177 down syndrome GARD:10247 MONDO:equivalentTo Down syndrome -MONDO:0860178 rare disease with autism GARD:10248 MONDO:equivalentTo Rare disease with autism -MONDO:0860179 bronchogenic cyst GARD:1025 MONDO:equivalentTo Bronchogenic cyst -MONDO:0860180 primary sjögren syndrome GARD:10252 MONDO:equivalentTo Primary Sjögren syndrome -MONDO:0860181 hydatidiform mole GARD:10263 MONDO:equivalentTo Hydatidiform mole -MONDO:0860182 hereditary cerebral hemorrhage with amyloidosis GARD:10266 MONDO:equivalentTo Hereditary cerebral hemorrhage with amyloidosis -MONDO:0860183 hyper-beta-alaninemia GARD:10267 MONDO:equivalentTo Hyper-beta-alaninemia -MONDO:0860184 adducted thumbs-arthrogryposis syndrome, christian type GARD:10277 MONDO:equivalentTo Adducted thumbs-arthrogryposis syndrome, Christian type -MONDO:0860185 isolated klippel-feil syndrome GARD:10280 MONDO:equivalentTo Isolated Klippel-Feil syndrome -MONDO:0860186 desmosterolosis GARD:10283 MONDO:equivalentTo Desmosterolosis -MONDO:0860187 rolandic epilepsy GARD:10287 MONDO:equivalentTo Rolandic epilepsy -MONDO:0860188 neutral lipid storage myopathy GARD:10288 MONDO:equivalentTo Neutral lipid storage myopathy -MONDO:0860189 bruck syndrome GARD:1029 MONDO:equivalentTo Bruck syndrome -MONDO:0860190 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia GARD:10290 MONDO:equivalentTo Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia -MONDO:0860191 linear nevus sebaceus syndrome GARD:10291 MONDO:equivalentTo Linear nevus sebaceus syndrome -MONDO:0860192 autosomal recessive ataxia due to ubiquinone deficiency GARD:10294 MONDO:equivalentTo Autosomal recessive ataxia due to ubiquinone deficiency -MONDO:0860193 syndactyly-telecanthus-anogenital and renal malformations syndrome GARD:10295 MONDO:equivalentTo Syndactyly-telecanthus-anogenital and renal malformations syndrome -MONDO:0860194 15q13.3 microdeletion syndrome GARD:10296 MONDO:equivalentTo 15q13.3 microdeletion syndrome -MONDO:0860195 ghosal hematodiaphyseal dysplasia GARD:10297 MONDO:equivalentTo Ghosal hematodiaphyseal dysplasia -MONDO:0860196 22q11.2 deletion syndrome GARD:10299 MONDO:equivalentTo 22q11.2 deletion syndrome -MONDO:0860197 brugada syndrome GARD:1030 MONDO:equivalentTo Brugada syndrome -MONDO:0860198 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome GARD:10300 MONDO:equivalentTo Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome -MONDO:0860199 autosomal recessive bestrophinopathy GARD:10301 MONDO:equivalentTo Autosomal recessive bestrophinopathy -MONDO:0860200 serkal syndrome GARD:10302 MONDO:equivalentTo SERKAL syndrome -MONDO:0860201 autism-facial port-wine stain syndrome GARD:10303 MONDO:equivalentTo Autism-facial port-wine stain syndrome -MONDO:0860202 8p23.1 duplication syndrome GARD:10304 MONDO:equivalentTo 8p23.1 duplication syndrome -MONDO:0860203 nephrogenic syndrome of inappropriate antidiuresis GARD:10306 MONDO:equivalentTo Nephrogenic syndrome of inappropriate antidiuresis -MONDO:0860204 congenital disorder of glycosylation GARD:10307 MONDO:equivalentTo Congenital disorder of glycosylation -MONDO:0860205 immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency GARD:10311 MONDO:equivalentTo Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency -MONDO:0860206 neurogenic scapuloperoneal syndrome, kaeser type GARD:10312 MONDO:equivalentTo Neurogenic scapuloperoneal syndrome, Kaeser type -MONDO:0860207 myh7-related late-onset scapuloperoneal muscular dystrophy GARD:10313 MONDO:equivalentTo MYH7-related late-onset scapuloperoneal muscular dystrophy -MONDO:0860208 scapuloperoneal spinal muscular atrophy GARD:10314 MONDO:equivalentTo Scapuloperoneal spinal muscular atrophy -MONDO:0860209 congenital multicore myopathy with external ophthalmoplegia GARD:10316 MONDO:equivalentTo Congenital multicore myopathy with external ophthalmoplegia -MONDO:0860210 megaconial congenital muscular dystrophy GARD:10317 MONDO:equivalentTo Megaconial congenital muscular dystrophy -MONDO:0860211 autosomal dominant prognathism GARD:10319 MONDO:equivalentTo Autosomal dominant prognathism -MONDO:0860212 3-methylglutaconic aciduria type 1 GARD:10321 MONDO:equivalentTo 3-methylglutaconic aciduria type 1 -MONDO:0860213 2-methylbutyryl-coa dehydrogenase deficiency GARD:10322 MONDO:equivalentTo 2-methylbutyryl-CoA dehydrogenase deficiency -MONDO:0860214 l-arginine:glycine amidinotransferase deficiency GARD:10323 MONDO:equivalentTo L-Arginine:glycine amidinotransferase deficiency -MONDO:0860215 mild phenylketonuria GARD:10324 MONDO:equivalentTo Mild phenylketonuria -MONDO:0860216 progressive encephalopathy with leukodystrophy due to decr deficiency GARD:10327 MONDO:equivalentTo Progressive encephalopathy with leukodystrophy due to DECR deficiency -MONDO:0860217 x-linked agammaglobulinemia GARD:1033 MONDO:equivalentTo X-linked agammaglobulinemia -MONDO:0860218 tyrosinemia type 3 GARD:10332 MONDO:equivalentTo Tyrosinemia type 3 -MONDO:0860219 sickle cell-beta-thalassemia disease syndrome GARD:10333 MONDO:equivalentTo Sickle cell-beta-thalassemia disease syndrome -MONDO:0860220 mucopolysaccharidosis type 1 GARD:10335 MONDO:equivalentTo Mucopolysaccharidosis type 1 -MONDO:0860221 severe combined immunodeficiency due to complete rag1/2 deficiency GARD:10339 MONDO:equivalentTo Severe combined immunodeficiency due to complete RAG1/2 deficiency -MONDO:0860222 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome GARD:10341 MONDO:equivalentTo Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome -MONDO:0860223 3-methylglutaconic aciduria type 4 GARD:10342 MONDO:equivalentTo 3-methylglutaconic aciduria type 4 -MONDO:0860224 gamma-heavy chain disease GARD:10346 MONDO:equivalentTo Gamma-heavy chain disease -MONDO:0860225 spinocerebellar ataxia type 6 GARD:10351 MONDO:equivalentTo Spinocerebellar ataxia type 6 -MONDO:0860226 familial platelet disorder with associated myeloid malignancy GARD:10352 MONDO:equivalentTo Familial platelet disorder with associated myeloid malignancy -MONDO:0860227 porphyria GARD:10353 MONDO:equivalentTo Porphyria -MONDO:0860228 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome GARD:10354 MONDO:equivalentTo Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome -MONDO:0860229 familial congenital palsy of trochlear nerve GARD:10355 MONDO:equivalentTo Familial congenital palsy of trochlear nerve -MONDO:0860230 intellectual disability, birk-barel type GARD:10358 MONDO:equivalentTo Intellectual disability, Birk-Barel type -MONDO:0860231 3q29 microduplication syndrome GARD:10360 MONDO:equivalentTo 3q29 microduplication syndrome -MONDO:0860232 idiopathic trachyonychia GARD:10363 MONDO:equivalentTo Idiopathic trachyonychia -MONDO:0860233 dopa-responsive dystonia due to sepiapterin reductase deficiency GARD:10365 MONDO:equivalentTo Dopa-responsive dystonia due to sepiapterin reductase deficiency -MONDO:0860234 toriello-lacassie-droste syndrome GARD:10366 MONDO:equivalentTo Toriello-Lacassie-Droste syndrome -MONDO:0860235 lelis syndrome GARD:10367 MONDO:equivalentTo Lelis syndrome -MONDO:0860236 primary basilar invagination GARD:1037 MONDO:equivalentTo Primary basilar invagination -MONDO:0860237 trehalase deficiency GARD:10372 MONDO:equivalentTo Trehalase deficiency -MONDO:0860238 hereditary bullous dystrophy, macular type GARD:1038 MONDO:equivalentTo Hereditary bullous dystrophy, macular type -MONDO:0860239 autosomal dominant epidermolytic ichthyosis GARD:1039 MONDO:equivalentTo Autosomal dominant epidermolytic ichthyosis -MONDO:0860240 ochoa syndrome GARD:104 MONDO:equivalentTo Ochoa syndrome -MONDO:0860241 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome GARD:10407 MONDO:equivalentTo Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome -MONDO:0860242 small cell carcinoma of the ovary GARD:10411 MONDO:equivalentTo Small cell carcinoma of the ovary -MONDO:0860243 autosomal dominant polycystic kidney disease GARD:10413 MONDO:equivalentTo Autosomal dominant polycystic kidney disease -MONDO:0860244 goblet cell carcinoma GARD:10414 MONDO:equivalentTo Goblet cell carcinoma -MONDO:0860245 homozygous familial hypercholesterolemia GARD:10416 MONDO:equivalentTo Homozygous familial hypercholesterolemia -MONDO:0860246 symptomatic form of hemochromatosis type 1 GARD:10417 MONDO:equivalentTo Symptomatic form of hemochromatosis type 1 -MONDO:0860247 hemophilia GARD:10418 MONDO:equivalentTo Hemophilia -MONDO:0860248 myotonic dystrophy GARD:10419 MONDO:equivalentTo Myotonic dystrophy -MONDO:0860249 coenzyme q10 deficiency GARD:10423 MONDO:equivalentTo Coenzyme Q10 deficiency -MONDO:0860250 cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy GARD:10424 MONDO:equivalentTo Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy -MONDO:0860251 x-linked hypohidrotic ectodermal dysplasia GARD:10427 MONDO:equivalentTo X-linked hypohidrotic ectodermal dysplasia -MONDO:0860252 pure autonomic failure GARD:10428 MONDO:equivalentTo Pure autonomic failure -MONDO:0860253 autosomal dominant brachyolmia GARD:10429 MONDO:equivalentTo Autosomal dominant brachyolmia -MONDO:0860254 dravet syndrome GARD:10430 MONDO:equivalentTo Dravet syndrome -MONDO:0860255 buschke-ollendorff syndrome GARD:1044 MONDO:equivalentTo Buschke-Ollendorff syndrome -MONDO:0860256 pediatric multiple sclerosis GARD:10443 MONDO:equivalentTo Pediatric multiple sclerosis -MONDO:0860257 transaldolase deficiency GARD:10445 MONDO:equivalentTo Transaldolase deficiency -MONDO:0860258 perry syndrome GARD:10453 MONDO:equivalentTo Perry syndrome -MONDO:0860259 isolated permanent neonatal diabetes mellitus GARD:10457 MONDO:equivalentTo Isolated permanent neonatal diabetes mellitus -MONDO:0860260 gcgr-related hyperglucagonemia GARD:10460 MONDO:equivalentTo GCGR-related hyperglucagonemia -MONDO:0860261 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome GARD:10467 MONDO:equivalentTo Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome -MONDO:0860262 spinocerebellar ataxia type 17 GARD:10469 MONDO:equivalentTo Spinocerebellar ataxia type 17 -MONDO:0860263 telethonin-related limb-girdle muscular dystrophy r7 GARD:10471 MONDO:equivalentTo Telethonin-related limb-girdle muscular dystrophy R7 -MONDO:0860264 l-2-hydroxyglutaric aciduria GARD:10472 MONDO:equivalentTo L-2-hydroxyglutaric aciduria -MONDO:0860265 spinocerebellar ataxia type 10 GARD:10474 MONDO:equivalentTo Spinocerebellar ataxia type 10 -MONDO:0860266 spinocerebellar ataxia type 11 GARD:10475 MONDO:equivalentTo Spinocerebellar ataxia type 11 -MONDO:0860267 spinocerebellar ataxia type 12 GARD:10476 MONDO:equivalentTo Spinocerebellar ataxia type 12 -MONDO:0860268 spinocerebellar ataxia type 15/16 GARD:10477 MONDO:equivalentTo Spinocerebellar ataxia type 15/16 -MONDO:0860269 spinocerebellar ataxia type 29 GARD:10480 MONDO:equivalentTo Spinocerebellar ataxia type 29 -MONDO:0860270 infantile dystonia-parkinsonism GARD:10484 MONDO:equivalentTo Infantile dystonia-parkinsonism -MONDO:0860271 craniopharyngioma GARD:10486 MONDO:equivalentTo Craniopharyngioma -MONDO:0860272 cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy GARD:1049 MONDO:equivalentTo Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy -MONDO:0860273 langerhans cell sarcoma GARD:10491 MONDO:equivalentTo Langerhans cell sarcoma -MONDO:0860274 aggressive nk-cell leukemia GARD:10493 MONDO:equivalentTo Aggressive NK-cell leukemia -MONDO:0860275 meconium aspiration syndrome GARD:10494 MONDO:equivalentTo Meconium aspiration syndrome -MONDO:0860276 oculocerebral hypopigmentation syndrome, cross type GARD:105 MONDO:equivalentTo Oculocerebral hypopigmentation syndrome, Cross type -MONDO:0860277 amyotrophic lateral sclerosis type 4 GARD:10502 MONDO:equivalentTo Amyotrophic lateral sclerosis type 4 -MONDO:0860278 craniorachischisis GARD:10504 MONDO:equivalentTo Craniorachischisis -MONDO:0860279 cryptophthalmia GARD:10505 MONDO:equivalentTo Cryptophthalmia -MONDO:0860280 iniencephaly GARD:10506 MONDO:equivalentTo Iniencephaly -MONDO:0860281 bartter syndrome type 4 GARD:10508 MONDO:equivalentTo Bartter syndrome type 4 -MONDO:0860282 acquired partial lipodystrophy GARD:10509 MONDO:equivalentTo Acquired partial lipodystrophy -MONDO:0860283 caffey disease GARD:1051 MONDO:equivalentTo Caffey disease -MONDO:0860284 juvenile huntington disease GARD:10510 MONDO:equivalentTo Juvenile Huntington disease -MONDO:0860285 spondyloepimetaphyseal dysplasia, aggrecan type GARD:10513 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, aggrecan type -MONDO:0860286 east syndrome GARD:10514 MONDO:equivalentTo EAST syndrome -MONDO:0860287 congenital tracheomalacia GARD:10515 MONDO:equivalentTo Congenital tracheomalacia -MONDO:0860288 sterile multifocal osteomyelitis with periostitis and pustulosis GARD:10516 MONDO:equivalentTo Sterile multifocal osteomyelitis with periostitis and pustulosis -MONDO:0860289 orofaciodigital syndrome type 3 GARD:10518 MONDO:equivalentTo Orofaciodigital syndrome type 3 -MONDO:0860290 cataract-hypertrichosis-intellectual disability syndrome GARD:1052 MONDO:equivalentTo Cataract-hypertrichosis-intellectual disability syndrome -MONDO:0860291 orofaciodigital syndrome type 9 GARD:10520 MONDO:equivalentTo Orofaciodigital syndrome type 9 -MONDO:0860292 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome GARD:10522 MONDO:equivalentTo Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome -MONDO:0860293 combined immunodeficiency due to stim1 deficiency GARD:10523 MONDO:equivalentTo Combined immunodeficiency due to STIM1 deficiency -MONDO:0860294 combined immunodeficiency due to orai1 deficiency GARD:10524 MONDO:equivalentTo Combined immunodeficiency due to ORAI1 deficiency -MONDO:0860295 15q11.2 microdeletion syndrome GARD:10525 MONDO:equivalentTo 15q11.2 microdeletion syndrome -MONDO:0860296 ectodermal dysplasia with natal teeth, turnpenny type GARD:10526 MONDO:equivalentTo Ectodermal dysplasia with natal teeth, Turnpenny type -MONDO:0860297 gingival fibromatosis-facial dysmorphism syndrome GARD:10528 MONDO:equivalentTo Gingival fibromatosis-facial dysmorphism syndrome -MONDO:0860298 myofibrillar myopathy GARD:10529 MONDO:equivalentTo Myofibrillar myopathy -MONDO:0860299 limited cutaneous systemic sclerosis GARD:1053 MONDO:equivalentTo Limited cutaneous systemic sclerosis -MONDO:0860300 x-linked dystonia-parkinsonism GARD:10533 MONDO:equivalentTo X-linked dystonia-parkinsonism -MONDO:0860301 primary dystonia, dyt17 type GARD:10536 MONDO:equivalentTo Primary dystonia, DYT17 type -MONDO:0860302 primary dystonia, dyt13 type GARD:10537 MONDO:equivalentTo Primary dystonia, DYT13 type -MONDO:0860303 autosomal recessive spastic paraplegia type 35 GARD:10538 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 35 -MONDO:0860304 dystonia 16 GARD:10539 MONDO:equivalentTo Dystonia 16 -MONDO:0860305 paroxysmal exertion-induced dyskinesia GARD:10541 MONDO:equivalentTo Paroxysmal exertion-induced dyskinesia -MONDO:0860306 cd4+/cd56+ hematodermic neoplasm GARD:10556 MONDO:equivalentTo CD4+/CD56+ hematodermic neoplasm -MONDO:0860307 22q11.2 duplication syndrome GARD:10557 MONDO:equivalentTo 22q11.2 duplication syndrome -MONDO:0860308 primary interstitial lung disease specific to childhood GARD:10559 MONDO:equivalentTo Primary interstitial lung disease specific to childhood -MONDO:0860309 aa amyloidosis GARD:10560 MONDO:equivalentTo AA amyloidosis -MONDO:0860310 nodular cutaneous amyloidosis GARD:10562 MONDO:equivalentTo Nodular cutaneous amyloidosis -MONDO:0860311 calpain-3-related limb-girdle muscular dystrophy r1 GARD:1057 MONDO:equivalentTo Calpain-3-related limb-girdle muscular dystrophy R1 -MONDO:0860312 christianson syndrome GARD:10572 MONDO:equivalentTo Christianson syndrome -MONDO:0860313 camptodactyly syndrome, guadalajara type 3 GARD:10573 MONDO:equivalentTo Camptodactyly syndrome, Guadalajara type 3 -MONDO:0860314 åland islands eye disease GARD:10574 MONDO:equivalentTo Åland Islands eye disease -MONDO:0860315 hyper-igm syndrome type 2 GARD:10578 MONDO:equivalentTo Hyper-IgM syndrome type 2 -MONDO:0860316 hyper-igm syndrome type 3 GARD:10579 MONDO:equivalentTo Hyper-IgM syndrome type 3 -MONDO:0860317 x-linked calvarial hyperostosis GARD:1058 MONDO:equivalentTo X-linked calvarial hyperostosis -MONDO:0860318 hyper-igm syndrome type 4 GARD:10580 MONDO:equivalentTo Hyper-IgM syndrome type 4 -MONDO:0860319 hyper-igm syndrome type 5 GARD:10581 MONDO:equivalentTo Hyper-IgM syndrome type 5 -MONDO:0860320 zechi-ceide syndrome GARD:10582 MONDO:equivalentTo Zechi-Ceide syndrome -MONDO:0860321 neonatal ichthyosis-sclerosing cholangitis syndrome GARD:10583 MONDO:equivalentTo Neonatal ichthyosis-sclerosing cholangitis syndrome -MONDO:0860322 mesomelic dysplasia, savarirayan type GARD:10584 MONDO:equivalentTo Mesomelic dysplasia, Savarirayan type -MONDO:0860323 chronic neutrophilic leukemia GARD:10585 MONDO:equivalentTo Chronic neutrophilic leukemia -MONDO:0860324 adult-onset autosomal dominant leukodystrophy GARD:10587 MONDO:equivalentTo Adult-onset autosomal dominant leukodystrophy -MONDO:0860325 mesoaxial synostotic syndactyly with phalangeal reduction GARD:10590 MONDO:equivalentTo Mesoaxial synostotic syndactyly with phalangeal reduction -MONDO:0860326 1q21.1 microduplication syndrome GARD:10591 MONDO:equivalentTo 1q21.1 microduplication syndrome -MONDO:0860327 19q13.11 microdeletion syndrome GARD:10592 MONDO:equivalentTo 19q13.11 microdeletion syndrome -MONDO:0860328 acute infantile liver failure due to synthesis defect of mtdna-encoded proteins GARD:10593 MONDO:equivalentTo Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins -MONDO:0860329 neurodegenerative syndrome due to cerebral folate transport deficiency GARD:10594 MONDO:equivalentTo Neurodegenerative syndrome due to cerebral folate transport deficiency -MONDO:0860330 bnar syndrome GARD:10595 MONDO:equivalentTo BNAR syndrome -MONDO:0860331 complete androgen insensitivity syndrome GARD:10597 MONDO:equivalentTo Complete androgen insensitivity syndrome -MONDO:0860332 oculocerebrocutaneous syndrome GARD:106 MONDO:equivalentTo Oculocerebrocutaneous syndrome -MONDO:0860333 combined pituitary hormone deficiencies, genetic forms GARD:10602 MONDO:equivalentTo Combined pituitary hormone deficiencies, genetic forms -MONDO:0860334 non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome GARD:10603 MONDO:equivalentTo Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome -MONDO:0860335 short stature-pituitary and cerebellar defects-small sella turcica syndrome GARD:10604 MONDO:equivalentTo Short stature-pituitary and cerebellar defects-small sella turcica syndrome -MONDO:0860336 acrocapitofemoral dysplasia GARD:10605 MONDO:equivalentTo Acrocapitofemoral dysplasia -MONDO:0860337 atelosteogenesis type iii GARD:10608 MONDO:equivalentTo Atelosteogenesis type III -MONDO:0860338 growth delay due to insulin-like growth factor i resistance GARD:10609 MONDO:equivalentTo Growth delay due to insulin-like growth factor I resistance -MONDO:0860339 campomelia, cumming type GARD:1061 MONDO:equivalentTo Campomelia, Cumming type -MONDO:0860340 spondyloepimetaphyseal dysplasia, matrilin-3 type GARD:10611 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, matrilin-3 type -MONDO:0860341 thoracomelic dysplasia GARD:10612 MONDO:equivalentTo Thoracomelic dysplasia -MONDO:0860342 adrenomyeloneuropathy GARD:10614 MONDO:equivalentTo Adrenomyeloneuropathy -MONDO:0860343 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome GARD:10616 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome -MONDO:0860344 congenital cystic eye GARD:10617 MONDO:equivalentTo Congenital cystic eye -MONDO:0860345 spondyloepimetaphyseal dysplasia, missouri type GARD:10618 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, Missouri type -MONDO:0860346 camptobrachydactyly GARD:1062 MONDO:equivalentTo Camptobrachydactyly -MONDO:0860347 smith-mccort dysplasia GARD:10620 MONDO:equivalentTo Smith-McCort dysplasia -MONDO:0860348 spondyloepiphyseal dysplasia tarda GARD:10624 MONDO:equivalentTo Spondyloepiphyseal dysplasia tarda -MONDO:0860349 growth delay due to insulin-like growth factor type 1 deficiency GARD:10627 MONDO:equivalentTo Growth delay due to insulin-like growth factor type 1 deficiency -MONDO:0860350 spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome GARD:10629 MONDO:equivalentTo Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome -MONDO:0860351 idiopathic camptocormia GARD:1063 MONDO:equivalentTo Idiopathic camptocormia -MONDO:0860352 congenital tufting enteropathy GARD:10630 MONDO:equivalentTo Congenital tufting enteropathy -MONDO:0860353 pleomorphic xanthoastrocytoma GARD:10631 MONDO:equivalentTo Pleomorphic xanthoastrocytoma -MONDO:0860354 subependymal giant cell astrocytoma GARD:10632 MONDO:equivalentTo Subependymal giant cell astrocytoma -MONDO:0860355 myxopapillary ependymoma GARD:10633 MONDO:equivalentTo Myxopapillary ependymoma -MONDO:0860356 anaplastic ependymoma GARD:10634 MONDO:equivalentTo Anaplastic ependymoma -MONDO:0860357 astroblastoma GARD:10635 MONDO:equivalentTo Astroblastoma -MONDO:0860358 anaplastic oligoastrocytoma GARD:10637 MONDO:equivalentTo Anaplastic oligoastrocytoma -MONDO:0860359 gangliocytoma GARD:10638 MONDO:equivalentTo Gangliocytoma -MONDO:0860360 anaplastic ganglioglioma GARD:10639 MONDO:equivalentTo Anaplastic ganglioglioma -MONDO:0860361 camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome GARD:1064 MONDO:equivalentTo Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome -MONDO:0860362 dysembryoplastic neuroepithelial tumor GARD:10640 MONDO:equivalentTo Dysembryoplastic neuroepithelial tumor -MONDO:0860363 central neurocytoma GARD:10641 MONDO:equivalentTo Central neurocytoma -MONDO:0860364 cerebellar liponeurocytoma GARD:10642 MONDO:equivalentTo Cerebellar liponeurocytoma -MONDO:0860365 carney-stratakis syndrome GARD:10643 MONDO:equivalentTo Carney-Stratakis syndrome -MONDO:0860366 pineal parenchymal tumor of intermediate differenciation GARD:10644 MONDO:equivalentTo Pineal parenchymal tumor of intermediate differenciation -MONDO:0860367 dent disease type 2 GARD:10645 MONDO:equivalentTo Dent disease type 2 -MONDO:0860368 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome GARD:10647 MONDO:equivalentTo Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome -MONDO:0860369 cone dystrophy with supernormal rod response GARD:10649 MONDO:equivalentTo Cone dystrophy with supernormal rod response -MONDO:0860370 baroreflex failure GARD:10664 MONDO:equivalentTo Baroreflex failure -MONDO:0860371 autosomal dominant focal dystonia, dyt25 type GARD:10667 MONDO:equivalentTo Autosomal dominant focal dystonia, DYT25 type -MONDO:0860372 camptodactyly syndrome, guadalajara type 1 GARD:1067 MONDO:equivalentTo Camptodactyly syndrome, Guadalajara type 1 -MONDO:0860373 glycoproteinosis GARD:10670 MONDO:equivalentTo Glycoproteinosis -MONDO:0860374 fetal gaucher disease GARD:10675 MONDO:equivalentTo Fetal Gaucher disease -MONDO:0860375 umod-related autosomal dominant tubulointerstitial kidney disease GARD:10679 MONDO:equivalentTo UMOD-related autosomal dominant tubulointerstitial kidney disease -MONDO:0860376 camptodactyly syndrome, guadalajara type 2 GARD:1068 MONDO:equivalentTo Camptodactyly syndrome, Guadalajara type 2 -MONDO:0860377 pseudohypoparathyroidism type 1b GARD:10680 MONDO:equivalentTo Pseudohypoparathyroidism type 1B -MONDO:0860378 pseudohypoparathyroidism type 1c GARD:10681 MONDO:equivalentTo Pseudohypoparathyroidism type 1C -MONDO:0860379 pseudohypoparathyroidism type 2 GARD:10682 MONDO:equivalentTo Pseudohypoparathyroidism type 2 -MONDO:0860380 primary lateral sclerosis GARD:10684 MONDO:equivalentTo Primary lateral sclerosis -MONDO:0860381 neuroferritinopathy GARD:10686 MONDO:equivalentTo Neuroferritinopathy -MONDO:0860382 camptodactyly-taurinuria syndrome GARD:1069 MONDO:equivalentTo Camptodactyly-taurinuria syndrome -MONDO:0860383 orofaciodigital syndrome GARD:10692 MONDO:equivalentTo Orofaciodigital syndrome -MONDO:0860384 orofaciodigital syndrome type 12 GARD:10693 MONDO:equivalentTo Orofaciodigital syndrome type 12 -MONDO:0860385 orofaciodigital syndrome type 13 GARD:10694 MONDO:equivalentTo Orofaciodigital syndrome type 13 -MONDO:0860386 atrial septal defect, ostium primum type GARD:10695 MONDO:equivalentTo Atrial septal defect, ostium primum type -MONDO:0860387 atrial septal defect, sinus venosus type GARD:10696 MONDO:equivalentTo Atrial septal defect, sinus venosus type -MONDO:0860388 atrial septal defect, coronary sinus type GARD:10697 MONDO:equivalentTo Atrial septal defect, coronary sinus type -MONDO:0860389 pontocerebellar hypoplasia type 1 GARD:10704 MONDO:equivalentTo Pontocerebellar hypoplasia type 1 -MONDO:0860390 pontocerebellar hypoplasia type 2 GARD:10705 MONDO:equivalentTo Pontocerebellar hypoplasia type 2 -MONDO:0860391 cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome GARD:10706 MONDO:equivalentTo Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome -MONDO:0860392 deafness with labyrinthine aplasia, microtia, and microdontia GARD:10707 MONDO:equivalentTo Deafness with labyrinthine aplasia, microtia, and microdontia -MONDO:0860393 pontocerebellar hypoplasia type 3 GARD:10708 MONDO:equivalentTo Pontocerebellar hypoplasia type 3 -MONDO:0860394 pontocerebellar hypoplasia type 6 GARD:10710 MONDO:equivalentTo Pontocerebellar hypoplasia type 6 -MONDO:0860395 genetic peripheral neuropathy GARD:10711 MONDO:equivalentTo Genetic peripheral neuropathy -MONDO:0860396 pudendal neuralgia GARD:10713 MONDO:equivalentTo Pudendal neuralgia -MONDO:0860397 legius syndrome GARD:10714 MONDO:equivalentTo Legius syndrome -MONDO:0860398 hsd10 disease GARD:10716 MONDO:equivalentTo HSD10 disease -MONDO:0860399 noonan syndrome-like disorder with loose anagen hair GARD:10719 MONDO:equivalentTo Noonan syndrome-like disorder with loose anagen hair -MONDO:0860400 camurati-engelmann disease GARD:1072 MONDO:equivalentTo Camurati-Engelmann disease -MONDO:0860401 koolen-de vries syndrome GARD:10727 MONDO:equivalentTo Koolen-De Vries syndrome -MONDO:0860402 fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease GARD:10728 MONDO:equivalentTo Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease -MONDO:0860403 chronic visceral acid sphingomyelinase deficiency GARD:10729 MONDO:equivalentTo Chronic visceral acid sphingomyelinase deficiency -MONDO:0860404 pyridoxal phosphate-responsive seizures GARD:10730 MONDO:equivalentTo Pyridoxal phosphate-responsive seizures -MONDO:0860405 mcleod neuroacanthocytosis syndrome GARD:10731 MONDO:equivalentTo McLeod neuroacanthocytosis syndrome -MONDO:0860406 leukoencephalopathy with calcifications and cysts GARD:10732 MONDO:equivalentTo Leukoencephalopathy with calcifications and cysts -MONDO:0860407 pleuropulmonary blastoma familial tumor susceptibility syndrome GARD:10734 MONDO:equivalentTo Pleuropulmonary blastoma familial tumor susceptibility syndrome -MONDO:0860408 primary hyperoxaluria type 3 GARD:10738 MONDO:equivalentTo Primary hyperoxaluria type 3 -MONDO:0860409 neuronal ceroid lipofuscinosis GARD:10739 MONDO:equivalentTo Neuronal ceroid lipofuscinosis -MONDO:0860410 proximal 16p11.2 microdeletion syndrome GARD:10740 MONDO:equivalentTo Proximal 16p11.2 microdeletion syndrome -MONDO:0860411 spondyloepimetaphyseal dysplasia, handigodu type GARD:10741 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, Handigodu type -MONDO:0860412 conjunctival malignant melanoma GARD:10744 MONDO:equivalentTo Conjunctival malignant melanoma -MONDO:0860413 epidermolysis bullosa simplex GARD:10752 MONDO:equivalentTo Epidermolysis bullosa simplex -MONDO:0860414 pachyonychia congenita GARD:10753 MONDO:equivalentTo Pachyonychia congenita -MONDO:0860415 rubinstein-taybi syndrome due to 16p13.3 microdeletion GARD:10754 MONDO:equivalentTo Rubinstein-Taybi syndrome due to 16p13.3 microdeletion -MONDO:0860416 16p13.3 microduplication syndrome GARD:10755 MONDO:equivalentTo 16p13.3 microduplication syndrome -MONDO:0860417 multiple epiphyseal dysplasia GARD:10756 MONDO:equivalentTo Multiple epiphyseal dysplasia -MONDO:0860418 pseudohypoparathyroidism GARD:10758 MONDO:equivalentTo Pseudohypoparathyroidism -MONDO:0860419 glycogen storage disease due to muscle and heart glycogen synthase deficiency GARD:10760 MONDO:equivalentTo Glycogen storage disease due to muscle and heart glycogen synthase deficiency -MONDO:0860420 2-hydroxyglutaric aciduria GARD:10761 MONDO:equivalentTo 2-hydroxyglutaric aciduria -MONDO:0860421 hereditary arterial and articular multiple calcification syndrome GARD:10762 MONDO:equivalentTo Hereditary arterial and articular multiple calcification syndrome -MONDO:0860422 hypermethioninemia due to glycine n-methyltransferase deficiency GARD:10764 MONDO:equivalentTo Hypermethioninemia due to glycine N-methyltransferase deficiency -MONDO:0860423 congenital factor xiii deficiency GARD:10766 MONDO:equivalentTo Congenital factor XIII deficiency -MONDO:0860424 mogs-cdg GARD:10767 MONDO:equivalentTo MOGS-CDG -MONDO:0860425 familial or sporadic hemiplegic migraine GARD:10768 MONDO:equivalentTo Familial or sporadic hemiplegic migraine -MONDO:0860426 laing early-onset distal myopathy GARD:10769 MONDO:equivalentTo Laing early-onset distal myopathy -MONDO:0860427 chronic mucocutaneous candidiasis GARD:1077 MONDO:equivalentTo Chronic mucocutaneous candidiasis -MONDO:0860428 kallmann syndrome GARD:10771 MONDO:equivalentTo Kallmann syndrome -MONDO:0860429 syndromic multisystem autoimmune disease due to itch deficiency GARD:10775 MONDO:equivalentTo Syndromic multisystem autoimmune disease due to Itch deficiency -MONDO:0860430 peritoneal cystic mesothelioma GARD:10777 MONDO:equivalentTo Peritoneal cystic mesothelioma -MONDO:0860431 recurrent infection due to specific granule deficiency GARD:10778 MONDO:equivalentTo Recurrent infection due to specific granule deficiency -MONDO:0860432 clippers GARD:10779 MONDO:equivalentTo CLIPPERS -MONDO:0860433 hypogonadism-mitral valve prolapse-intellectual disability syndrome GARD:1078 MONDO:equivalentTo Hypogonadism-mitral valve prolapse-intellectual disability syndrome -MONDO:0860434 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia GARD:10780 MONDO:equivalentTo Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia -MONDO:0860435 goldmann-favre syndrome GARD:10781 MONDO:equivalentTo Goldmann-Favre syndrome -MONDO:0860436 stickler syndrome GARD:10782 MONDO:equivalentTo Stickler syndrome -MONDO:0860437 bilateral frontal polymicrogyria GARD:10783 MONDO:equivalentTo Bilateral frontal polymicrogyria -MONDO:0860438 bilateral frontoparietal polymicrogyria GARD:10784 MONDO:equivalentTo Bilateral frontoparietal polymicrogyria -MONDO:0860439 bilateral parasagittal parieto-occipital polymicrogyria GARD:10785 MONDO:equivalentTo Bilateral parasagittal parieto-occipital polymicrogyria -MONDO:0860440 bilateral generalized polymicrogyria GARD:10786 MONDO:equivalentTo Bilateral generalized polymicrogyria -MONDO:0860441 loeys-dietz syndrome GARD:10788 MONDO:equivalentTo Loeys-Dietz syndrome -MONDO:0860442 cone rod dystrophy GARD:10790 MONDO:equivalentTo Cone rod dystrophy -MONDO:0860443 logopenic progressive aphasia GARD:10791 MONDO:equivalentTo Logopenic progressive aphasia -MONDO:0860444 semantic dementia GARD:10792 MONDO:equivalentTo Semantic dementia -MONDO:0860445 progressive non-fluent aphasia GARD:10793 MONDO:equivalentTo Progressive non-fluent aphasia -MONDO:0860446 paroxysmal hemicrania GARD:10794 MONDO:equivalentTo Paroxysmal hemicrania -MONDO:0860447 hemicrania continua GARD:10795 MONDO:equivalentTo Hemicrania continua -MONDO:0860448 hypnic headache GARD:10796 MONDO:equivalentTo Hypnic headache -MONDO:0860449 adult polyglucosan body disease GARD:108 MONDO:equivalentTo Adult polyglucosan body disease -MONDO:0860450 autosomal dominant tubulointerstitial kidney disease GARD:10801 MONDO:equivalentTo Autosomal dominant tubulointerstitial kidney disease -MONDO:0860451 lamellar ichthyosis GARD:10803 MONDO:equivalentTo Lamellar ichthyosis -MONDO:0860452 metaplastic carcinoma of the breast GARD:10804 MONDO:equivalentTo Metaplastic carcinoma of the breast -MONDO:0860453 mutyh-related attenuated familial adenomatous polyposis GARD:10805 MONDO:equivalentTo MUTYH-related attenuated familial adenomatous polyposis -MONDO:0860454 female restricted epilepsy with intellectual disability GARD:10806 MONDO:equivalentTo Female restricted epilepsy with intellectual disability -MONDO:0860455 insulin autoimmune syndrome GARD:10808 MONDO:equivalentTo Insulin autoimmune syndrome -MONDO:0860456 postorgasmic illness syndrome GARD:10809 MONDO:equivalentTo Postorgasmic illness syndrome -MONDO:0860457 fatty acid hydroxylase-associated neurodegeneration GARD:10810 MONDO:equivalentTo Fatty acid hydroxylase-associated neurodegeneration -MONDO:0860458 1q21.1 microdeletion syndrome GARD:10813 MONDO:equivalentTo 1q21.1 microdeletion syndrome -MONDO:0860459 thyrotoxic periodic paralysis GARD:10814 MONDO:equivalentTo Thyrotoxic periodic paralysis -MONDO:0860460 lichen planus pigmentosus GARD:10816 MONDO:equivalentTo Lichen planus pigmentosus -MONDO:0860461 autosomal dominant spastic paraplegia type 31 GARD:10817 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 31 -MONDO:0860462 combined malonic and methylmalonic acidemia GARD:10818 MONDO:equivalentTo Combined malonic and methylmalonic acidemia -MONDO:0860463 eastern equine encephalitis GARD:10821 MONDO:equivalentTo Eastern equine encephalitis -MONDO:0860464 idiopathic spontaneous coronary artery dissection GARD:10822 MONDO:equivalentTo Idiopathic spontaneous coronary artery dissection -MONDO:0860465 obesity due to pro-opiomelanocortin deficiency GARD:10823 MONDO:equivalentTo Obesity due to pro-opiomelanocortin deficiency -MONDO:0860466 cushing syndrome due to macronodular adrenal hyperplasia GARD:10824 MONDO:equivalentTo Cushing syndrome due to macronodular adrenal hyperplasia -MONDO:0860467 familial hypocalciuric hypercalcemia GARD:10828 MONDO:equivalentTo Familial hypocalciuric hypercalcemia -MONDO:0860468 hyperparathyroidism-jaw tumor syndrome GARD:10829 MONDO:equivalentTo Hyperparathyroidism-jaw tumor syndrome -MONDO:0860469 nevus of ito GARD:10830 MONDO:equivalentTo Nevus of Ito -MONDO:0860470 ring chromosome 2 syndrome GARD:10837 MONDO:equivalentTo Ring chromosome 2 syndrome -MONDO:0860471 ring chromosome 3 syndrome GARD:10839 MONDO:equivalentTo Ring chromosome 3 syndrome -MONDO:0860472 systemic capillary leak syndrome GARD:1084 MONDO:equivalentTo Systemic capillary leak syndrome -MONDO:0860473 ring chromosome 5 syndrome GARD:10841 MONDO:equivalentTo Ring chromosome 5 syndrome -MONDO:0860474 ring chromosome 11 syndrome GARD:10846 MONDO:equivalentTo Ring chromosome 11 syndrome -MONDO:0860475 ring chromosome 16 syndrome GARD:10855 MONDO:equivalentTo Ring chromosome 16 syndrome -MONDO:0860476 monosomy 21 GARD:10860 MONDO:equivalentTo Monosomy 21 -MONDO:0860477 monosomy 18q GARD:10865 MONDO:equivalentTo Monosomy 18q -MONDO:0860478 familial multiple trichoepithelioma GARD:10867 MONDO:equivalentTo Familial multiple trichoepithelioma -MONDO:0860479 free sialic acid storage disease GARD:10870 MONDO:equivalentTo Free sialic acid storage disease -MONDO:0860480 intermediate severe salla disease GARD:10871 MONDO:equivalentTo Intermediate severe Salla disease -MONDO:0860481 malignant peripheral nerve sheath tumor GARD:10872 MONDO:equivalentTo Malignant peripheral nerve sheath tumor -MONDO:0860482 heterotaxia GARD:10875 MONDO:equivalentTo Heterotaxia -MONDO:0860483 congenital radioulnar synostosis GARD:10876 MONDO:equivalentTo Congenital radioulnar synostosis -MONDO:0860484 familial tumoral calcinosis GARD:10877 MONDO:equivalentTo Familial tumoral calcinosis -MONDO:0860485 familial normophosphatemic tumoral calcinosis GARD:10878 MONDO:equivalentTo Familial normophosphatemic tumoral calcinosis -MONDO:0860486 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome GARD:10879 MONDO:equivalentTo Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome -MONDO:0860487 frontal fibrosing alopecia GARD:10886 MONDO:equivalentTo Frontal fibrosing alopecia -MONDO:0860488 osteofibrous dysplasia GARD:10887 MONDO:equivalentTo Osteofibrous dysplasia -MONDO:0860489 hanac syndrome GARD:10889 MONDO:equivalentTo HANAC syndrome -MONDO:0860490 non-involuting congenital hemangioma GARD:10890 MONDO:equivalentTo Non-involuting congenital hemangioma -MONDO:0860491 gm1 gangliosidosis GARD:10891 MONDO:equivalentTo GM1 gangliosidosis -MONDO:0860492 blepharophimosis-intellectual disability syndrome GARD:10892 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome -MONDO:0860493 primary acquired pure red cell aplasia GARD:10898 MONDO:equivalentTo Primary acquired pure red cell aplasia -MONDO:0860494 inclusion body myopathy with paget disease of bone and frontotemporal dementia GARD:10899 MONDO:equivalentTo Inclusion body myopathy with Paget disease of bone and frontotemporal dementia -MONDO:0860495 progressive osseous heteroplasia GARD:109 MONDO:equivalentTo Progressive osseous heteroplasia -MONDO:0860496 hereditary diffuse gastric cancer GARD:10900 MONDO:equivalentTo Hereditary diffuse gastric cancer -MONDO:0860497 neuroacanthocytosis GARD:10902 MONDO:equivalentTo Neuroacanthocytosis -MONDO:0860498 brachyolmia GARD:10903 MONDO:equivalentTo Brachyolmia -MONDO:0860499 dyskeratosis congenita GARD:10905 MONDO:equivalentTo Dyskeratosis congenita -MONDO:0860500 primary pigmented nodular adrenocortical disease GARD:10906 MONDO:equivalentTo Primary pigmented nodular adrenocortical disease -MONDO:0860501 x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia GARD:10907 MONDO:equivalentTo X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia -MONDO:0860502 adult-onset foveomacular vitelliform dystrophy GARD:10909 MONDO:equivalentTo Adult-onset foveomacular vitelliform dystrophy -MONDO:0860503 medial condensing osteitis of the clavicle GARD:10910 MONDO:equivalentTo Medial condensing osteitis of the clavicle -MONDO:0860504 autoimmune pancreatitis GARD:10911 MONDO:equivalentTo Autoimmune pancreatitis -MONDO:0860505 griscelli syndrome GARD:10913 MONDO:equivalentTo Griscelli syndrome -MONDO:0860506 familial avascular necrosis of femoral head GARD:10914 MONDO:equivalentTo Familial avascular necrosis of femoral head -MONDO:0860507 x-linked lymphoproliferative disease GARD:10915 MONDO:equivalentTo X-linked lymphoproliferative disease -MONDO:0860508 x-linked lymphoproliferative disease due to xiap deficiency GARD:10916 MONDO:equivalentTo X-linked lymphoproliferative disease due to XIAP deficiency -MONDO:0860509 hypomyelination with atrophy of basal ganglia and cerebellum GARD:10917 MONDO:equivalentTo Hypomyelination with atrophy of basal ganglia and cerebellum -MONDO:0860510 pontine tegmental cap dysplasia GARD:10919 MONDO:equivalentTo Pontine tegmental cap dysplasia -MONDO:0860511 intraneural perineurioma GARD:10921 MONDO:equivalentTo Intraneural perineurioma -MONDO:0860512 49,xxxyy syndrome GARD:10922 MONDO:equivalentTo 49,XXXYY syndrome -MONDO:0860513 erythrokeratoderma variabilis progressiva GARD:10923 MONDO:equivalentTo Erythrokeratoderma variabilis progressiva -MONDO:0860514 carney triad GARD:10924 MONDO:equivalentTo Carney triad -MONDO:0860515 la crosse encephalitis GARD:10925 MONDO:equivalentTo La Crosse encephalitis -MONDO:0860516 cryopyrin-associated periodic syndrome GARD:10927 MONDO:equivalentTo Cryopyrin-associated periodic syndrome -MONDO:0860517 nodular regenerative hyperplasia of the liver GARD:10929 MONDO:equivalentTo Nodular regenerative hyperplasia of the liver -MONDO:0860518 monocytopenia with susceptibility to infections GARD:10934 MONDO:equivalentTo Monocytopenia with susceptibility to infections -MONDO:0860519 16q24.3 microdeletion syndrome GARD:10935 MONDO:equivalentTo 16q24.3 microdeletion syndrome -MONDO:0860520 17q23.1q23.2 microdeletion syndrome GARD:10936 MONDO:equivalentTo 17q23.1q23.2 microdeletion syndrome -MONDO:0860521 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome GARD:10938 MONDO:equivalentTo Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome -MONDO:0860522 cloves syndrome GARD:10939 MONDO:equivalentTo CLOVES syndrome -MONDO:0860523 cardiac diverticulum GARD:1094 MONDO:equivalentTo Cardiac diverticulum -MONDO:0860524 superior limbic keratoconjunctivitis GARD:10940 MONDO:equivalentTo Superior limbic keratoconjunctivitis -MONDO:0860525 anterior uveitis GARD:10941 MONDO:equivalentTo Anterior uveitis -MONDO:0860526 glaucoma secondary to spherophakia/ectopia lentis and megalocornea GARD:10942 MONDO:equivalentTo Glaucoma secondary to spherophakia/ectopia lentis and megalocornea -MONDO:0860527 1q44 microdeletion syndrome GARD:10943 MONDO:equivalentTo 1q44 microdeletion syndrome -MONDO:0860528 cog6-cgd GARD:10944 MONDO:equivalentTo COG6-CGD -MONDO:0860529 short stature-optic atrophy-pelger-huët anomaly syndrome GARD:10945 MONDO:equivalentTo Short stature-optic atrophy-Pelger-Huët anomaly syndrome -MONDO:0860530 corticosteroid-sensitive aseptic abscess syndrome GARD:10946 MONDO:equivalentTo Corticosteroid-sensitive aseptic abscess syndrome -MONDO:0860531 uv-sensitive syndrome GARD:10947 MONDO:equivalentTo UV-sensitive syndrome -MONDO:0860532 erythropoietic uroporphyria associated with myeloid malignancy GARD:10948 MONDO:equivalentTo Erythropoietic uroporphyria associated with myeloid malignancy -MONDO:0860533 non-24-hour sleep-wake syndrome GARD:10949 MONDO:equivalentTo Non-24-hour sleep-wake syndrome -MONDO:0860534 necrobiotic xanthogranuloma GARD:10951 MONDO:equivalentTo Necrobiotic xanthogranuloma -MONDO:0860535 3-methylcrotonyl-coa carboxylase deficiency GARD:10954 MONDO:equivalentTo 3-methylcrotonyl-CoA carboxylase deficiency -MONDO:0860536 noonan syndrome GARD:10955 MONDO:equivalentTo Noonan syndrome -MONDO:0860537 hyper-ige syndrome GARD:10956 MONDO:equivalentTo Hyper-IgE syndrome -MONDO:0860538 irida syndrome GARD:10957 MONDO:equivalentTo IRIDA syndrome -MONDO:0860539 oculocutaneous albinism GARD:10958 MONDO:equivalentTo Oculocutaneous albinism -MONDO:0860540 familial isolated pituitary adenoma GARD:10959 MONDO:equivalentTo Familial isolated pituitary adenoma -MONDO:0860541 flna-related x-linked myxomatous valvular dysplasia GARD:1096 MONDO:equivalentTo FLNA-related X-linked myxomatous valvular dysplasia -MONDO:0860542 tempi syndrome GARD:10962 MONDO:equivalentTo TEMPI syndrome -MONDO:0860543 chronic graft versus host disease GARD:10964 MONDO:equivalentTo Chronic graft versus host disease -MONDO:0860544 fgfr2-related bent bone dysplasia GARD:10965 MONDO:equivalentTo FGFR2-related bent bone dysplasia -MONDO:0860545 systemic-onset juvenile idiopathic arthritis GARD:10966 MONDO:equivalentTo Systemic-onset juvenile idiopathic arthritis -MONDO:0860546 enthesitis-related juvenile idiopathic arthritis GARD:10969 MONDO:equivalentTo Enthesitis-related juvenile idiopathic arthritis -MONDO:0860547 psoriasis-related juvenile idiopathic arthritis GARD:10970 MONDO:equivalentTo Psoriasis-related juvenile idiopathic arthritis -MONDO:0860548 distal monosomy 17q GARD:10972 MONDO:equivalentTo Distal monosomy 17q -MONDO:0860549 adult neuronal ceroid lipofuscinosis GARD:10973 MONDO:equivalentTo Adult neuronal ceroid lipofuscinosis -MONDO:0860550 non-syndromic pontocerebellar hypoplasia GARD:10977 MONDO:equivalentTo Non-syndromic pontocerebellar hypoplasia -MONDO:0860551 autoimmune polyendocrinopathy type 3 GARD:10980 MONDO:equivalentTo Autoimmune polyendocrinopathy type 3 -MONDO:0860552 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia GARD:10981 MONDO:equivalentTo Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia -MONDO:0860553 disseminated superficial actinic porokeratosis GARD:10983 MONDO:equivalentTo Disseminated superficial actinic porokeratosis -MONDO:0860554 mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency GARD:10984 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency -MONDO:0860555 left ventricular noncompaction GARD:10985 MONDO:equivalentTo Left ventricular noncompaction -MONDO:0860556 granulomatous slack skin GARD:10986 MONDO:equivalentTo Granulomatous slack skin -MONDO:0860557 mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome GARD:10989 MONDO:equivalentTo Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome -MONDO:0860558 19p13.12 microdeletion syndrome GARD:10991 MONDO:equivalentTo 19p13.12 microdeletion syndrome -MONDO:0860559 autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome GARD:10992 MONDO:equivalentTo Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome -MONDO:0860560 genitopatellar syndrome GARD:10994 MONDO:equivalentTo Genitopatellar syndrome -MONDO:0860561 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly GARD:10995 MONDO:equivalentTo Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly -MONDO:0860562 distal 17p13.1 microdeletion syndrome GARD:10996 MONDO:equivalentTo Distal 17p13.1 microdeletion syndrome -MONDO:0860563 aneurysm-osteoarthritis syndrome GARD:10997 MONDO:equivalentTo Aneurysm-osteoarthritis syndrome -MONDO:0860564 2q23.1 microdeletion syndrome GARD:10998 MONDO:equivalentTo 2q23.1 microdeletion syndrome -MONDO:0860565 severe intellectual disability and progressive spastic paraplegia GARD:10999 MONDO:equivalentTo Severe intellectual disability and progressive spastic paraplegia -MONDO:0860566 alternating hemiplegia of childhood GARD:11 MONDO:equivalentTo Alternating hemiplegia of childhood -MONDO:0860567 noonan syndrome with multiple lentigines GARD:1100 MONDO:equivalentTo Noonan syndrome with multiple lentigines -MONDO:0860568 constitutional megaloblastic anemia with severe neurologic disease GARD:11000 MONDO:equivalentTo Constitutional megaloblastic anemia with severe neurologic disease -MONDO:0860569 karyomegalic interstitial nephritis GARD:11003 MONDO:equivalentTo Karyomegalic interstitial nephritis -MONDO:0860570 linear and whorled nevoid hypermelanosis GARD:11004 MONDO:equivalentTo Linear and whorled nevoid hypermelanosis -MONDO:0860571 febrile infection-related epilepsy syndrome GARD:11005 MONDO:equivalentTo Febrile infection-related epilepsy syndrome -MONDO:0860572 painful orbital and systemic neurofibromas-marfanoid habitus syndrome GARD:11006 MONDO:equivalentTo Painful orbital and systemic neurofibromas-marfanoid habitus syndrome -MONDO:0860573 onychocytic matricoma GARD:11007 MONDO:equivalentTo Onychocytic matricoma -MONDO:0860574 nestor-guillermo progeria syndrome GARD:11008 MONDO:equivalentTo Nestor-Guillermo progeria syndrome -MONDO:0860575 chondrodysplasia with joint dislocations, gpapp type GARD:11009 MONDO:equivalentTo Chondrodysplasia with joint dislocations, gPAPP type -MONDO:0860576 hereditary sensorimotor neuropathy with hyperelastic skin GARD:11010 MONDO:equivalentTo Hereditary sensorimotor neuropathy with hyperelastic skin -MONDO:0860577 multifocal motor neuropathy GARD:11011 MONDO:equivalentTo Multifocal motor neuropathy -MONDO:0860578 cardiomyopathy-cataract-hip spine disease syndrome GARD:1102 MONDO:equivalentTo Cardiomyopathy-cataract-hip spine disease syndrome -MONDO:0860579 recurrent respiratory papillomatosis GARD:111 MONDO:equivalentTo Recurrent respiratory papillomatosis -MONDO:0860580 3mc syndrome GARD:1118 MONDO:equivalentTo 3MC syndrome -MONDO:0860581 carney complex GARD:1119 MONDO:equivalentTo Carney complex -MONDO:0860582 infant acute respiratory distress syndrome GARD:112 MONDO:equivalentTo Infant acute respiratory distress syndrome -MONDO:0860583 carnitine palmitoyl transferase 1a deficiency GARD:1120 MONDO:equivalentTo Carnitine palmitoyl transferase 1A deficiency -MONDO:0860584 carnitine palmitoyltransferase ii deficiency GARD:1121 MONDO:equivalentTo Carnitine palmitoyltransferase II deficiency -MONDO:0860585 carnitine-acylcarnitine translocase deficiency GARD:1123 MONDO:equivalentTo Carnitine-acylcarnitine translocase deficiency -MONDO:0860586 carpotarsal osteochondromatosis GARD:1128 MONDO:equivalentTo Carpotarsal osteochondromatosis -MONDO:0860587 idiopathic chronic eosinophilic pneumonia GARD:1130 MONDO:equivalentTo Idiopathic chronic eosinophilic pneumonia -MONDO:0860588 x-linked intellectual disability, stocco dos santos type GARD:1133 MONDO:equivalentTo X-linked intellectual disability, Stocco Dos Santos type -MONDO:0860589 autosomal recessive palmoplantar keratoderma and congenital alopecia GARD:1139 MONDO:equivalentTo Autosomal recessive palmoplantar keratoderma and congenital alopecia -MONDO:0860590 x-linked charcot-marie-tooth disease type 5 GARD:114 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 5 -MONDO:0860591 early-onset anterior polar cataract GARD:1140 MONDO:equivalentTo Early-onset anterior polar cataract -MONDO:0860592 cataract-ataxia-deafness syndrome GARD:1141 MONDO:equivalentTo Cataract-ataxia-deafness syndrome -MONDO:0860593 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome GARD:1142 MONDO:equivalentTo Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome -MONDO:0860594 cataract-microcornea syndrome GARD:1155 MONDO:equivalentTo Cataract-microcornea syndrome -MONDO:0860595 total early-onset cataract GARD:1159 MONDO:equivalentTo Total early-onset cataract -MONDO:0860596 alpha-n-acetylgalactosaminidase deficiency type 1 GARD:116 MONDO:equivalentTo Alpha-N-acetylgalactosaminidase deficiency type 1 -MONDO:0860597 cataract-glaucoma syndrome GARD:1160 MONDO:equivalentTo Cataract-glaucoma syndrome -MONDO:0860598 caudal appendage-deafness syndrome GARD:1163 MONDO:equivalentTo Caudal appendage-deafness syndrome -MONDO:0860599 caudal duplication GARD:1164 MONDO:equivalentTo Caudal duplication -MONDO:0860600 acrocardiofacial syndrome GARD:1167 MONDO:equivalentTo Acrocardiofacial syndrome -MONDO:0860601 schinzel-giedion syndrome GARD:117 MONDO:equivalentTo Schinzel-Giedion syndrome -MONDO:0860602 ulnar-mammary syndrome GARD:118 MONDO:equivalentTo Ulnar-mammary syndrome -MONDO:0860603 ameloblastic carcinoma GARD:11855 MONDO:equivalentTo Ameloblastic carcinoma -MONDO:0860604 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome GARD:1188 MONDO:equivalentTo Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome -MONDO:0860605 cerebellar ataxia-ectodermal dysplasia syndrome GARD:1189 MONDO:equivalentTo Cerebellar ataxia-ectodermal dysplasia syndrome -MONDO:0860606 peroxisome biogenesis disorder GARD:11890 MONDO:equivalentTo Peroxisome biogenesis disorder -MONDO:0860607 spinal arteriovenous metameric syndrome GARD:11892 MONDO:equivalentTo Spinal arteriovenous metameric syndrome -MONDO:0860608 mandibuloacral dysplasia GARD:11893 MONDO:equivalentTo Mandibuloacral dysplasia -MONDO:0860609 pulmonary alveolar microlithiasis GARD:11894 MONDO:equivalentTo Pulmonary alveolar microlithiasis -MONDO:0860610 pellucid marginal degeneration GARD:11895 MONDO:equivalentTo Pellucid marginal degeneration -MONDO:0860611 progressive cone dystrophy GARD:11897 MONDO:equivalentTo Progressive cone dystrophy -MONDO:0860612 linear lichen planus GARD:11898 MONDO:equivalentTo Linear lichen planus -MONDO:0860613 neurodegeneration with brain iron accumulation GARD:11899 MONDO:equivalentTo Neurodegeneration with brain iron accumulation -MONDO:0860614 juvenile amyotrophic lateral sclerosis GARD:11901 MONDO:equivalentTo Juvenile amyotrophic lateral sclerosis -MONDO:0860615 congenital myasthenic syndrome GARD:11902 MONDO:equivalentTo Congenital myasthenic syndrome -MONDO:0860616 immunodeficiency due to selective anti-polysaccharide antibody deficiency GARD:11903 MONDO:equivalentTo Immunodeficiency due to selective anti-polysaccharide antibody deficiency -MONDO:0860617 capillary malformation-arteriovenous malformation GARD:11904 MONDO:equivalentTo Capillary malformation-arteriovenous malformation -MONDO:0860618 cylindrical spirals myopathy GARD:11906 MONDO:equivalentTo Cylindrical spirals myopathy -MONDO:0860619 acute panmyelosis with myelofibrosis GARD:11907 MONDO:equivalentTo Acute panmyelosis with myelofibrosis -MONDO:0860620 dirofilariasis GARD:11908 MONDO:equivalentTo Dirofilariasis -MONDO:0860621 autosomal recessive progressive external ophthalmoplegia GARD:1191 MONDO:equivalentTo Autosomal recessive progressive external ophthalmoplegia -MONDO:0860622 atypical werner syndrome GARD:11910 MONDO:equivalentTo Atypical Werner syndrome -MONDO:0860623 deafness-infertility syndrome GARD:11911 MONDO:equivalentTo Deafness-infertility syndrome -MONDO:0860624 heritable pulmonary arterial hypertension GARD:11914 MONDO:equivalentTo Heritable pulmonary arterial hypertension -MONDO:0860625 cap myopathy GARD:11915 MONDO:equivalentTo Cap myopathy -MONDO:0860626 autosomal dominant nocturnal frontal lobe epilepsy GARD:11918 MONDO:equivalentTo Autosomal dominant nocturnal frontal lobe epilepsy -MONDO:0860627 small cell carcinoma of the bladder GARD:11923 MONDO:equivalentTo Small cell carcinoma of the bladder -MONDO:0860628 x-linked centronuclear myopathy GARD:11925 MONDO:equivalentTo X-linked centronuclear myopathy -MONDO:0860629 hereditary sensory neuropathy-deafness-dementia syndrome GARD:11927 MONDO:equivalentTo Hereditary sensory neuropathy-deafness-dementia syndrome -MONDO:0860630 endosteal sclerosis-cerebellar hypoplasia syndrome GARD:1195 MONDO:equivalentTo Endosteal sclerosis-cerebellar hypoplasia syndrome -MONDO:0860631 rhabdomyosarcoma GARD:11951 MONDO:equivalentTo Rhabdomyosarcoma -MONDO:0860632 non-hodgkin lymphoma GARD:11953 MONDO:equivalentTo Non-Hodgkin lymphoma -MONDO:0860633 cerebellar hypoplasia-tapetoretinal degeneration syndrome GARD:1196 MONDO:equivalentTo Cerebellar hypoplasia-tapetoretinal degeneration syndrome -MONDO:0860634 familial partial lipodystrophy GARD:11962 MONDO:equivalentTo Familial partial lipodystrophy -MONDO:0860635 renal nutcracker syndrome GARD:11971 MONDO:equivalentTo Renal nutcracker syndrome -MONDO:0860636 autosomal dominant optic atrophy GARD:11972 MONDO:equivalentTo Autosomal dominant optic atrophy -MONDO:0860637 angioimmunoblastic t-cell lymphoma GARD:11973 MONDO:equivalentTo Angioimmunoblastic T-cell lymphoma -MONDO:0860638 3q29 microdeletion syndrome GARD:11974 MONDO:equivalentTo 3q29 microdeletion syndrome -MONDO:0860639 autoimmune encephalitis GARD:11979 MONDO:equivalentTo Autoimmune encephalitis -MONDO:0860640 hypomyelination-congenital cataract syndrome GARD:11980 MONDO:equivalentTo Hypomyelination-congenital cataract syndrome -MONDO:0860641 primary membranoproliferative glomerulonephritis GARD:11982 MONDO:equivalentTo Primary membranoproliferative glomerulonephritis -MONDO:0860642 activated pi3k-delta syndrome GARD:11983 MONDO:equivalentTo Activated PI3K-delta syndrome -MONDO:0860643 hereditary pheochromocytoma-paraganglioma GARD:11984 MONDO:equivalentTo Hereditary pheochromocytoma-paraganglioma -MONDO:0860644 48,xyyy syndrome GARD:11985 MONDO:equivalentTo 48,XYYY syndrome -MONDO:0860645 autosomal recessive cerebelloparenchymal disorder type 3 GARD:1199 MONDO:equivalentTo Autosomal recessive cerebelloparenchymal disorder type 3 -MONDO:0860646 adult-onset immunodeficiency with anti-interferon-gamma autoantibodies GARD:11992 MONDO:equivalentTo Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies -MONDO:0860647 hypersensitivity pneumonitis GARD:12 MONDO:equivalentTo Hypersensitivity pneumonitis -MONDO:0860648 hydrocephaly-cerebellar agenesis syndrome GARD:1200 MONDO:equivalentTo Hydrocephaly-cerebellar agenesis syndrome -MONDO:0860649 congenital tracheal stenosis GARD:12008 MONDO:equivalentTo Congenital tracheal stenosis -MONDO:0860650 isolated biliary atresia GARD:12010 MONDO:equivalentTo Isolated biliary atresia -MONDO:0860651 autosomal dominant intermediate charcot-marie-tooth disease type e GARD:12011 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease type E -MONDO:0860652 lipoblastoma GARD:12015 MONDO:equivalentTo Lipoblastoma -MONDO:0860653 primary melanoma of the central nervous system GARD:12016 MONDO:equivalentTo Primary melanoma of the central nervous system -MONDO:0860654 differentiated thyroid carcinoma GARD:12027 MONDO:equivalentTo Differentiated thyroid carcinoma -MONDO:0860655 levocardia GARD:12032 MONDO:equivalentTo Levocardia -MONDO:0860656 nemaline myopathy GARD:12033 MONDO:equivalentTo Nemaline myopathy -MONDO:0860657 facial onset sensory and motor neuronopathy GARD:12036 MONDO:equivalentTo Facial onset sensory and motor neuronopathy -MONDO:0860658 immunotactoid glomerulopathy GARD:12048 MONDO:equivalentTo Immunotactoid glomerulopathy -MONDO:0860659 gm3 synthase deficiency GARD:12059 MONDO:equivalentTo GM3 synthase deficiency -MONDO:0860660 visual snow syndrome GARD:12062 MONDO:equivalentTo Visual snow syndrome -MONDO:0860661 oculo-auriculo-vertebral spectrum GARD:12074 MONDO:equivalentTo Oculo-auriculo-vertebral spectrum -MONDO:0860662 7q11.23 microduplication syndrome GARD:12076 MONDO:equivalentTo 7q11.23 microduplication syndrome -MONDO:0860663 isolated microphthalmia-anophthalmia-coloboma GARD:12085 MONDO:equivalentTo Isolated microphthalmia-anophthalmia-coloboma -MONDO:0860664 lysosomal acid lipase deficiency GARD:12097 MONDO:equivalentTo Lysosomal acid lipase deficiency -MONDO:0860665 cholesteryl ester storage disease GARD:12099 MONDO:equivalentTo Cholesteryl ester storage disease -MONDO:0860666 focal facial dermal dysplasia type iii GARD:121 MONDO:equivalentTo Focal facial dermal dysplasia type III -MONDO:0860667 cerebrofaciothoracic dysplasia GARD:1210 MONDO:equivalentTo Cerebrofaciothoracic dysplasia -MONDO:0860668 autosomal dominant non-syndromic intellectual disability GARD:12107 MONDO:equivalentTo Autosomal dominant non-syndromic intellectual disability -MONDO:0860669 trichothiodystrophy GARD:12109 MONDO:equivalentTo Trichothiodystrophy -MONDO:0860670 autosomal recessive primary microcephaly GARD:12117 MONDO:equivalentTo Autosomal recessive primary microcephaly -MONDO:0860671 congenital absence of upper arm and forearm with hand present GARD:12123 MONDO:equivalentTo Congenital absence of upper arm and forearm with hand present -MONDO:0860672 macrophage activation syndrome GARD:12124 MONDO:equivalentTo Macrophage activation syndrome -MONDO:0860673 plasmablastic lymphoma GARD:12125 MONDO:equivalentTo Plasmablastic lymphoma -MONDO:0860674 methylmalonic acidemia with homocystinuria, type cblc GARD:12128 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblC -MONDO:0860675 dopa-responsive dystonia GARD:12144 MONDO:equivalentTo Dopa-responsive dystonia -MONDO:0860676 reducing body myopathy GARD:12162 MONDO:equivalentTo Reducing body myopathy -MONDO:0860677 brain-lung-thyroid syndrome GARD:12163 MONDO:equivalentTo Brain-lung-thyroid syndrome -MONDO:0860678 5q14.3 microdeletion syndrome GARD:12166 MONDO:equivalentTo 5q14.3 microdeletion syndrome -MONDO:0860679 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations GARD:1217 MONDO:equivalentTo Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations -MONDO:0860680 cdkl5-deficiency disorder GARD:12173 MONDO:equivalentTo CDKL5-deficiency disorder -MONDO:0860681 cln10 disease GARD:1218 MONDO:equivalentTo CLN10 disease -MONDO:0860682 benign recurrent intrahepatic cholestasis GARD:12185 MONDO:equivalentTo Benign recurrent intrahepatic cholestasis -MONDO:0860683 cln1 disease GARD:1219 MONDO:equivalentTo CLN1 disease -MONDO:0860684 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome GARD:12199 MONDO:equivalentTo Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome -MONDO:0860685 singleton-merten dysplasia GARD:122 MONDO:equivalentTo Singleton-Merten dysplasia -MONDO:0860686 cln7 disease GARD:1220 MONDO:equivalentTo CLN7 disease -MONDO:0860687 15q24 microdeletion syndrome GARD:12219 MONDO:equivalentTo 15q24 microdeletion syndrome -MONDO:0860688 cln4b disease GARD:1222 MONDO:equivalentTo CLN4B disease -MONDO:0860689 cln5 disease GARD:1223 MONDO:equivalentTo CLN5 disease -MONDO:0860690 childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia GARD:12232 MONDO:equivalentTo Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia -MONDO:0860691 autosomal recessive ataxia, beauce type GARD:12234 MONDO:equivalentTo Autosomal recessive ataxia, Beauce type -MONDO:0860692 cln6 disease GARD:1224 MONDO:equivalentTo CLN6 disease -MONDO:0860693 familial lipoprotein lipase deficiency GARD:12241 MONDO:equivalentTo Familial lipoprotein lipase deficiency -MONDO:0860694 new-onset refractory status epilepticus GARD:12244 MONDO:equivalentTo New-onset refractory status epilepticus -MONDO:0860695 isolated ectopia lentis GARD:12251 MONDO:equivalentTo Isolated ectopia lentis -MONDO:0860696 t-cell/histiocyte rich large b cell lymphoma GARD:12257 MONDO:equivalentTo T-cell/histiocyte rich large B cell lymphoma -MONDO:0860697 cervical hypertrichosis-peripheral neuropathy syndrome GARD:1226 MONDO:equivalentTo Cervical hypertrichosis-peripheral neuropathy syndrome -MONDO:0860698 col4a1-related familial vascular leukoencephalopathy GARD:12264 MONDO:equivalentTo COL4A1-related familial vascular leukoencephalopathy -MONDO:0860699 congenital insensitivity to pain-anosmia-neuropathic arthropathy GARD:12267 MONDO:equivalentTo Congenital insensitivity to pain-anosmia-neuropathic arthropathy -MONDO:0860700 central congenital hypothyroidism GARD:12280 MONDO:equivalentTo Central congenital hypothyroidism -MONDO:0860701 chronic atrial and intestinal dysrhythmia syndrome GARD:12281 MONDO:equivalentTo Chronic atrial and intestinal dysrhythmia syndrome -MONDO:0860702 lissencephaly GARD:12291 MONDO:equivalentTo Lissencephaly -MONDO:0860703 bradyopsia GARD:12299 MONDO:equivalentTo Bradyopsia -MONDO:0860704 pelizaeus-merzbacher-like disease GARD:12300 MONDO:equivalentTo Pelizaeus-Merzbacher-like disease -MONDO:0860705 thomsen and becker disease GARD:12301 MONDO:equivalentTo Thomsen and Becker disease -MONDO:0860706 celiac artery compression syndrome GARD:12308 MONDO:equivalentTo Celiac artery compression syndrome -MONDO:0860707 congenital lactase deficiency GARD:12311 MONDO:equivalentTo Congenital lactase deficiency -MONDO:0860708 image syndrome GARD:12312 MONDO:equivalentTo IMAGe syndrome -MONDO:0860709 autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome GARD:12314 MONDO:equivalentTo Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome -MONDO:0860710 alacrimia-choreoathetosis-liver dysfunction syndrome GARD:12315 MONDO:equivalentTo Alacrimia-choreoathetosis-liver dysfunction syndrome -MONDO:0860711 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency GARD:12316 MONDO:equivalentTo Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency -MONDO:0860712 hereditary sensory and autonomic neuropathy type 5 GARD:12328 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 5 -MONDO:0860713 chand syndrome GARD:1233 MONDO:equivalentTo CHAND syndrome -MONDO:0860714 intestinal lymphangiectasia GARD:12331 MONDO:equivalentTo Intestinal lymphangiectasia -MONDO:0860715 carcinosarcoma of the corpus uteri GARD:12335 MONDO:equivalentTo Carcinosarcoma of the corpus uteri -MONDO:0860716 transcobalamin deficiency GARD:12338 MONDO:equivalentTo Transcobalamin deficiency -MONDO:0860717 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome GARD:1234 MONDO:equivalentTo Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome -MONDO:0860718 rare lichen planus GARD:12344 MONDO:equivalentTo Rare lichen planus -MONDO:0860719 dihydropyrimidinuria GARD:12347 MONDO:equivalentTo Dihydropyrimidinuria -MONDO:0860720 cog5-cdg GARD:12348 MONDO:equivalentTo COG5-CDG -MONDO:0860721 multifocal atrial tachycardia GARD:1235 MONDO:equivalentTo Multifocal atrial tachycardia -MONDO:0860722 autosomal recessive axonal neuropathy with neuromyotonia GARD:12353 MONDO:equivalentTo Autosomal recessive axonal neuropathy with neuromyotonia -MONDO:0860723 distal renal tubular acidosis with anemia GARD:12354 MONDO:equivalentTo Distal renal tubular acidosis with anemia -MONDO:0860724 sting-associated vasculopathy with onset in infancy GARD:12357 MONDO:equivalentTo STING-associated vasculopathy with onset in infancy -MONDO:0860725 microcytic anemia with liver iron overload GARD:12360 MONDO:equivalentTo Microcytic anemia with liver iron overload -MONDO:0860726 familial hyperaldosteronism type iii GARD:12362 MONDO:equivalentTo Familial hyperaldosteronism type III -MONDO:0860727 spinocerebellar ataxia type 19/22 GARD:12365 MONDO:equivalentTo Spinocerebellar ataxia type 19/22 -MONDO:0860728 spinocerebellar ataxia type 35 GARD:12366 MONDO:equivalentTo Spinocerebellar ataxia type 35 -MONDO:0860729 spinocerebellar ataxia type 36 GARD:12367 MONDO:equivalentTo Spinocerebellar ataxia type 36 -MONDO:0860730 spinocerebellar ataxia type 37 GARD:12368 MONDO:equivalentTo Spinocerebellar ataxia type 37 -MONDO:0860731 spinocerebellar ataxia type 38 GARD:12369 MONDO:equivalentTo Spinocerebellar ataxia type 38 -MONDO:0860732 char syndrome GARD:1237 MONDO:equivalentTo Char syndrome -MONDO:0860733 spinocerebellar ataxia type 40 GARD:12371 MONDO:equivalentTo Spinocerebellar ataxia type 40 -MONDO:0860734 autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome GARD:12372 MONDO:equivalentTo Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome -MONDO:0860735 idiopathic cd4 lymphocytopenia GARD:12375 MONDO:equivalentTo Idiopathic CD4 lymphocytopenia -MONDO:0860736 sudden infant death-dysgenesis of the testes syndrome GARD:12382 MONDO:equivalentTo Sudden infant death-dysgenesis of the testes syndrome -MONDO:0860737 vasculitis due to ada2 deficiency GARD:12383 MONDO:equivalentTo Vasculitis due to ADA2 deficiency -MONDO:0860738 hypopigmentation-punctate palmoplantar keratoderma syndrome GARD:12384 MONDO:equivalentTo Hypopigmentation-punctate palmoplantar keratoderma syndrome -MONDO:0860739 male infertility due to large-headed multiflagellar polyploid spermatozoa GARD:12385 MONDO:equivalentTo Male infertility due to large-headed multiflagellar polyploid spermatozoa -MONDO:0860740 proximal 16p11.2 microduplication syndrome GARD:12388 MONDO:equivalentTo Proximal 16p11.2 microduplication syndrome -MONDO:0860741 schnitzler syndrome GARD:12390 MONDO:equivalentTo Schnitzler syndrome -MONDO:0860742 dk1-cdg GARD:12393 MONDO:equivalentTo DK1-CDG -MONDO:0860743 rft1-cdg GARD:12394 MONDO:equivalentTo RFT1-CDG -MONDO:0860744 dpm3-cdg GARD:12395 MONDO:equivalentTo DPM3-CDG -MONDO:0860745 alg11-cdg GARD:12396 MONDO:equivalentTo ALG11-CDG -MONDO:0860746 srd5a3-cdg GARD:12397 MONDO:equivalentTo SRD5A3-CDG -MONDO:0860747 ddost-cdg GARD:12398 MONDO:equivalentTo DDOST-CDG -MONDO:0860748 x-linked charcot-marie-tooth disease type 4 GARD:1240 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 4 -MONDO:0860749 alg13-cdg GARD:12401 MONDO:equivalentTo ALG13-CDG -MONDO:0860750 slc35a2-cdg GARD:12403 MONDO:equivalentTo SLC35A2-CDG -MONDO:0860751 ssr4-cdg GARD:12405 MONDO:equivalentTo SSR4-CDG -MONDO:0860752 slc35a1-cdg GARD:12409 MONDO:equivalentTo SLC35A1-CDG -MONDO:0860753 cog8-cdg GARD:12411 MONDO:equivalentTo COG8-CDG -MONDO:0860754 cog4-cdg GARD:12412 MONDO:equivalentTo COG4-CDG -MONDO:0860755 tmem165-cdg GARD:12413 MONDO:equivalentTo TMEM165-CDG -MONDO:0860756 congenital muscular dystrophy with intellectual disability and severe epilepsy GARD:12416 MONDO:equivalentTo Congenital muscular dystrophy with intellectual disability and severe epilepsy -MONDO:0860757 man1b1-cdg GARD:12417 MONDO:equivalentTo MAN1B1-CDG -MONDO:0860758 partial duplication of the short arm of chromosome x GARD:12421 MONDO:equivalentTo Partial duplication of the short arm of chromosome X -MONDO:0860759 congenital intrauterine infection-like syndrome GARD:12426 MONDO:equivalentTo Congenital intrauterine infection-like syndrome -MONDO:0860760 cutaneous collagenous vasculopathy GARD:12428 MONDO:equivalentTo Cutaneous collagenous vasculopathy -MONDO:0860761 autosomal dominant charcot-marie-tooth disease type 2n GARD:12429 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2N -MONDO:0860762 x-linked charcot-marie-tooth disease type 2 GARD:1243 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 2 -MONDO:0860763 autosomal dominant charcot-marie-tooth disease type 2 GARD:12431 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 -MONDO:0860764 autosomal dominant charcot-marie-tooth disease type 2l GARD:12432 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2L -MONDO:0860765 charcot-marie-tooth disease type 1 GARD:12433 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1 -MONDO:0860766 autosomal dominant charcot-marie-tooth disease type 2o GARD:12434 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2O -MONDO:0860767 charcot-marie-tooth disease type 2p GARD:12435 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2P -MONDO:0860768 autosomal dominant intermediate charcot-marie-tooth disease GARD:12436 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease -MONDO:0860769 autosomal dominant intermediate charcot-marie-tooth disease type a GARD:12437 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease type A -MONDO:0860770 autosomal dominant intermediate charcot-marie-tooth disease type b GARD:12438 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease type B -MONDO:0860771 autosomal dominant intermediate charcot-marie-tooth disease type c GARD:12439 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease type C -MONDO:0860772 x-linked charcot-marie-tooth disease type 3 GARD:1244 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 3 -MONDO:0860773 charcot-marie-tooth disease type 4 GARD:12440 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4 -MONDO:0860774 charcot-marie-tooth disease type 4f GARD:12441 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4F -MONDO:0860775 charcot-marie-tooth disease type 4h GARD:12442 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4H -MONDO:0860776 charcot-marie-tooth disease type 4j GARD:12443 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4J -MONDO:0860777 x-linked charcot-marie-tooth disease GARD:12444 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease -MONDO:0860778 x-linked charcot-marie-tooth disease type 6 GARD:12445 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 6 -MONDO:0860779 autosomal dominant charcot-marie-tooth disease type 2q GARD:12446 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2Q -MONDO:0860780 autosomal dominant charcot-marie-tooth disease type 2 with giant axons GARD:12447 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons -MONDO:0860781 autosomal recessive charcot-marie-tooth disease with hoarseness GARD:12448 MONDO:equivalentTo Autosomal recessive Charcot-Marie-Tooth disease with hoarseness -MONDO:0860782 autosomal recessive axonal hereditary motor and sensory neuropathy GARD:12449 MONDO:equivalentTo Autosomal recessive axonal hereditary motor and sensory neuropathy -MONDO:0860783 charcot-marie-tooth disease type 1a GARD:1245 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1A -MONDO:0860784 charcot-marie-tooth disease type 2r GARD:12451 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2R -MONDO:0860785 autosomal recessive intermediate charcot-marie-tooth disease GARD:12452 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease -MONDO:0860786 autosomal recessive intermediate charcot-marie-tooth disease type a GARD:12453 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease type A -MONDO:0860787 autosomal recessive intermediate charcot-marie-tooth disease type b GARD:12454 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease type B -MONDO:0860788 sickle cell-hemoglobin d disease syndrome GARD:12458 MONDO:equivalentTo Sickle cell-hemoglobin D disease syndrome -MONDO:0860789 sickle cell disease associated with another hemoglobin anomaly GARD:12459 MONDO:equivalentTo Sickle cell disease associated with another hemoglobin anomaly -MONDO:0860790 charcot-marie-tooth disease type 1b GARD:1246 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1B -MONDO:0860791 glutaric acidemia type 3 GARD:12469 MONDO:equivalentTo Glutaric acidemia type 3 -MONDO:0860792 charcot-marie-tooth disease type 1c GARD:1247 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1C -MONDO:0860793 peroxisomal beta-oxidation disorder GARD:12470 MONDO:equivalentTo Peroxisomal beta-oxidation disorder -MONDO:0860794 leukoencephalopathy-dystonia-motor neuropathy syndrome GARD:12471 MONDO:equivalentTo Leukoencephalopathy-dystonia-motor neuropathy syndrome -MONDO:0860795 cadds GARD:12472 MONDO:equivalentTo CADDS -MONDO:0860796 periodontal ehlers-danlos syndrome GARD:12474 MONDO:equivalentTo Periodontal Ehlers-Danlos syndrome -MONDO:0860797 disorder of peroxisomal alpha-, beta- and omega-oxidation GARD:12476 MONDO:equivalentTo Disorder of peroxisomal alpha-, beta- and omega-oxidation -MONDO:0860798 bleeding disorder due to p2y12 defect GARD:12478 MONDO:equivalentTo Bleeding disorder due to P2Y12 defect -MONDO:0860799 autosomal dominant charcot-marie-tooth disease type 2a1 GARD:1248 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2A1 -MONDO:0860800 tetrasomy 21 GARD:12480 MONDO:equivalentTo Tetrasomy 21 -MONDO:0860801 cor triatriatum dexter GARD:12483 MONDO:equivalentTo Cor triatriatum dexter -MONDO:0860802 cor triatriatum sinister GARD:12484 MONDO:equivalentTo Cor triatriatum sinister -MONDO:0860803 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome GARD:12486 MONDO:equivalentTo Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome -MONDO:0860804 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome GARD:12487 MONDO:equivalentTo Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome -MONDO:0860805 charcot-marie-tooth disease type 2b2 GARD:1249 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2B2 -MONDO:0860806 x-linked lissencephaly with abnormal genitalia GARD:12491 MONDO:equivalentTo X-linked lissencephaly with abnormal genitalia -MONDO:0860807 20p12.3 microdeletion syndrome GARD:12492 MONDO:equivalentTo 20p12.3 microdeletion syndrome -MONDO:0860808 aromatase excess syndrome GARD:12494 MONDO:equivalentTo Aromatase excess syndrome -MONDO:0860809 acrokeratoelastoidosis of costa GARD:125 MONDO:equivalentTo Acrokeratoelastoidosis of Costa -MONDO:0860810 autosomal dominant charcot-marie-tooth disease type 2c GARD:1250 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2C -MONDO:0860811 intellectual disability-severe speech delay-mild dysmorphism syndrome GARD:12501 MONDO:equivalentTo Intellectual disability-severe speech delay-mild dysmorphism syndrome -MONDO:0860812 male infertility due to globozoospermia GARD:12502 MONDO:equivalentTo Male infertility due to globozoospermia -MONDO:0860813 atypical gaucher disease due to saposin c deficiency GARD:12503 MONDO:equivalentTo Atypical Gaucher disease due to saposin C deficiency -MONDO:0860814 gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome GARD:12504 MONDO:equivalentTo Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome -MONDO:0860815 encephalopathy due to prosaposin deficiency GARD:12505 MONDO:equivalentTo Encephalopathy due to prosaposin deficiency -MONDO:0860816 autosomal dominant charcot-marie-tooth disease type 2d GARD:1251 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2D -MONDO:0860817 gangliosidosis GARD:12510 MONDO:equivalentTo Gangliosidosis -MONDO:0860818 lipid storage disease GARD:12511 MONDO:equivalentTo Lipid storage disease -MONDO:0860819 male infertility with spermatogenesis disorder due to single gene mutation GARD:12513 MONDO:equivalentTo Male infertility with spermatogenesis disorder due to single gene mutation -MONDO:0860820 charcot-marie-tooth disease type 4a GARD:1252 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4A -MONDO:0860821 igg4-related disease GARD:12521 MONDO:equivalentTo IgG4-related disease -MONDO:0860822 l1 syndrome GARD:12524 MONDO:equivalentTo L1 syndrome -MONDO:0860823 x-linked complicated spastic paraplegia type 1 GARD:12525 MONDO:equivalentTo X-linked complicated spastic paraplegia type 1 -MONDO:0860824 x-linked complicated corpus callosum dysgenesis GARD:12526 MONDO:equivalentTo X-linked complicated corpus callosum dysgenesis -MONDO:0860825 dnajb6-related limb-girdle muscular dystrophy d1 GARD:12528 MONDO:equivalentTo DNAJB6-related limb-girdle muscular dystrophy D1 -MONDO:0860826 charcot-marie-tooth disease type 4b1 GARD:1253 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4B1 -MONDO:0860827 tnp03-related limb-girdle muscular dystrophy d2 GARD:12530 MONDO:equivalentTo TNP03-related limb-girdle muscular dystrophy D2 -MONDO:0860828 hnrnpdl-related limb-girdle muscular dystrophy d3 GARD:12531 MONDO:equivalentTo HNRNPDL-related limb-girdle muscular dystrophy D3 -MONDO:0860829 autosomal dominant limb-girdle muscular dystrophy type 1h GARD:12532 MONDO:equivalentTo Autosomal dominant limb-girdle muscular dystrophy type 1H -MONDO:0860830 fkrp-related limb-girdle muscular dystrophy r9 GARD:12533 MONDO:equivalentTo FKRP-related limb-girdle muscular dystrophy R9 -MONDO:0860831 titin-related limb-girdle muscular dystrophy r10 GARD:12534 MONDO:equivalentTo Titin-related limb-girdle muscular dystrophy R10 -MONDO:0860832 pomt1-related limb-girdle muscular dystrophy r11 GARD:12535 MONDO:equivalentTo POMT1-related limb-girdle muscular dystrophy R11 -MONDO:0860833 anoctamin-5-related limb-girdle muscular dystrophy r12 GARD:12536 MONDO:equivalentTo Anoctamin-5-related limb-girdle muscular dystrophy R12 -MONDO:0860834 fukutin-related limb-girdle muscular dystrophy r13 GARD:12538 MONDO:equivalentTo Fukutin-related limb-girdle muscular dystrophy R13 -MONDO:0860835 pomt2-related limb-girdle muscular dystrophy r14 GARD:12539 MONDO:equivalentTo POMT2-related limb-girdle muscular dystrophy R14 -MONDO:0860836 pomgnt1-related limb-girdle muscular dystrophy r15 GARD:12540 MONDO:equivalentTo POMGNT1-related limb-girdle muscular dystrophy R15 -MONDO:0860837 alpha-dystroglycan-related limb-girdle muscular dystrophy r16 GARD:12541 MONDO:equivalentTo Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 -MONDO:0860838 plectin-related limb-girdle muscular dystrophy r17 GARD:12542 MONDO:equivalentTo Plectin-related limb-girdle muscular dystrophy R17 -MONDO:0860839 trappc11-related limb-girdle muscular dystrophy r18 GARD:12543 MONDO:equivalentTo TRAPPC11-related limb-girdle muscular dystrophy R18 -MONDO:0860840 gmppb-related limb-girdle muscular dystrophy r19 GARD:12544 MONDO:equivalentTo GMPPB-related limb-girdle muscular dystrophy R19 -MONDO:0860841 selective igm deficiency GARD:12547 MONDO:equivalentTo Selective IgM deficiency -MONDO:0860842 isolated congenital adermatoglyphia GARD:12550 MONDO:equivalentTo Isolated congenital adermatoglyphia -MONDO:0860843 familial congenital mirror movements GARD:12551 MONDO:equivalentTo Familial congenital mirror movements -MONDO:0860844 non-acquired isolated growth hormone deficiency GARD:12556 MONDO:equivalentTo Non-acquired isolated growth hormone deficiency -MONDO:0860845 hurler syndrome GARD:12559 MONDO:equivalentTo Hurler syndrome -MONDO:0860846 hurler-scheie syndrome GARD:12560 MONDO:equivalentTo Hurler-Scheie syndrome -MONDO:0860847 scheie syndrome GARD:12561 MONDO:equivalentTo Scheie syndrome -MONDO:0860848 mucopolysaccharidosis type 4 GARD:12562 MONDO:equivalentTo Mucopolysaccharidosis type 4 -MONDO:0860849 pla2g6-associated neurodegeneration GARD:12567 MONDO:equivalentTo PLA2G6-associated neurodegeneration -MONDO:0860850 adult-onset dystonia-parkinsonism GARD:12568 MONDO:equivalentTo Adult-onset dystonia-parkinsonism -MONDO:0860851 mitochondrial membrane protein-associated neurodegeneration GARD:12569 MONDO:equivalentTo Mitochondrial membrane protein-associated neurodegeneration -MONDO:0860852 beta-propeller protein-associated neurodegeneration GARD:12570 MONDO:equivalentTo Beta-propeller protein-associated neurodegeneration -MONDO:0860853 coasy protein-associated neurodegeneration GARD:12571 MONDO:equivalentTo COASY protein-associated neurodegeneration -MONDO:0860854 x-linked charcot-marie-tooth disease type 1 GARD:1258 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 1 -MONDO:0860855 congenital muscular dystrophy due to dystroglycanopathy GARD:12584 MONDO:equivalentTo Congenital muscular dystrophy due to dystroglycanopathy -MONDO:0860856 congenital muscular dystrophy due to lmna mutation GARD:12585 MONDO:equivalentTo Congenital muscular dystrophy due to LMNA mutation -MONDO:0860857 congenital muscular dystrophy type 1b GARD:12586 MONDO:equivalentTo Congenital muscular dystrophy type 1B -MONDO:0860858 congenital muscular dystrophy with integrin alpha-7 deficiency GARD:12587 MONDO:equivalentTo Congenital muscular dystrophy with integrin alpha-7 deficiency -MONDO:0860859 congenital muscular alpha-dystroglycanopathy with brain and eye anomalies GARD:12588 MONDO:equivalentTo Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies -MONDO:0860860 congenital fibrosis of extraocular muscles GARD:12590 MONDO:equivalentTo Congenital fibrosis of extraocular muscles -MONDO:0860861 hereditary myopathy with early respiratory failure GARD:12591 MONDO:equivalentTo Hereditary myopathy with early respiratory failure -MONDO:0860862 oculopharyngodistal myopathy GARD:12592 MONDO:equivalentTo Oculopharyngodistal myopathy -MONDO:0860863 primary lipodystrophy GARD:12596 MONDO:equivalentTo Primary lipodystrophy -MONDO:0860864 genetic lipodystrophy GARD:12597 MONDO:equivalentTo Genetic lipodystrophy -MONDO:0860865 familial partial lipodystrophy, köbberling type GARD:12598 MONDO:equivalentTo Familial partial lipodystrophy, Köbberling type -MONDO:0860866 akt2-related familial partial lipodystrophy GARD:12599 MONDO:equivalentTo AKT2-related familial partial lipodystrophy -MONDO:0860867 pparg-related familial partial lipodystrophy GARD:12600 MONDO:equivalentTo PPARG-related familial partial lipodystrophy -MONDO:0860868 plin1-related familial partial lipodystrophy GARD:12601 MONDO:equivalentTo PLIN1-related familial partial lipodystrophy -MONDO:0860869 acquired lipodystrophy GARD:12602 MONDO:equivalentTo Acquired lipodystrophy -MONDO:0860870 acquired generalized lipodystrophy GARD:12603 MONDO:equivalentTo Acquired generalized lipodystrophy -MONDO:0860871 lipodystrophy due to peptidic growth factors deficiency GARD:12604 MONDO:equivalentTo Lipodystrophy due to peptidic growth factors deficiency -MONDO:0860872 charlie m syndrome GARD:1261 MONDO:equivalentTo Charlie M syndrome -MONDO:0860873 slc39a13-related spondylodysplastic ehlers-danlos syndrome GARD:12610 MONDO:equivalentTo SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome -MONDO:0860874 cardiac-valvular ehlers-danlos syndrome GARD:12613 MONDO:equivalentTo Cardiac-valvular Ehlers-Danlos syndrome -MONDO:0860875 methylmalonic acidemia with homocystinuria, type cblj GARD:12621 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblJ -MONDO:0860876 vitamin b12-responsive methylmalonic acidemia GARD:12623 MONDO:equivalentTo Vitamin B12-responsive methylmalonic acidemia -MONDO:0860877 stapes ankylosis with broad thumbs and toes GARD:12631 MONDO:equivalentTo Stapes ankylosis with broad thumbs and toes -MONDO:0860878 multiple mitochondrial dysfunctions syndrome GARD:12632 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome -MONDO:0860879 laurence-moon syndrome GARD:12635 MONDO:equivalentTo Laurence-Moon syndrome -MONDO:0860880 bacterial susceptibility due to tlr signaling pathway deficiency GARD:12638 MONDO:equivalentTo Bacterial susceptibility due to TLR signaling pathway deficiency -MONDO:0860881 frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome GARD:12640 MONDO:equivalentTo Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome -MONDO:0860882 frontonasal dysplasia-alopecia-genital anomalies syndrome GARD:12641 MONDO:equivalentTo Frontonasal dysplasia-alopecia-genital anomalies syndrome -MONDO:0860883 frontorhiny GARD:12642 MONDO:equivalentTo Frontorhiny -MONDO:0860884 lethal congenital contracture syndrome GARD:12643 MONDO:equivalentTo Lethal congenital contracture syndrome -MONDO:0860885 lethal congenital contracture syndrome type 3 GARD:12644 MONDO:equivalentTo Lethal congenital contracture syndrome type 3 -MONDO:0860886 isolated congenital megalocornea GARD:12648 MONDO:equivalentTo Isolated congenital megalocornea -MONDO:0860887 amoebiasis due to free-living amoebae GARD:12650 MONDO:equivalentTo Amoebiasis due to free-living amoebae -MONDO:0860888 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome GARD:12652 MONDO:equivalentTo Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome -MONDO:0860889 dock2 deficiency GARD:12653 MONDO:equivalentTo DOCK2 deficiency -MONDO:0860890 castleman disease GARD:12656 MONDO:equivalentTo Castleman disease -MONDO:0860891 cerebrofacial arteriovenous metameric syndrome GARD:12662 MONDO:equivalentTo Cerebrofacial arteriovenous metameric syndrome -MONDO:0860892 facial arteriovenous malformation GARD:12663 MONDO:equivalentTo Facial arteriovenous malformation -MONDO:0860893 congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency GARD:12664 MONDO:equivalentTo Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency -MONDO:0860894 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency GARD:12665 MONDO:equivalentTo Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency -MONDO:0860895 x-linked intellectual disability, najm type GARD:12669 MONDO:equivalentTo X-linked intellectual disability, Najm type -MONDO:0860896 actinic lichen planus GARD:12673 MONDO:equivalentTo Actinic lichen planus -MONDO:0860897 annular lichen planus GARD:12674 MONDO:equivalentTo Annular lichen planus -MONDO:0860898 atrophic lichen planus GARD:12675 MONDO:equivalentTo Atrophic lichen planus -MONDO:0860899 annular atrophic lichen planus GARD:12676 MONDO:equivalentTo Annular atrophic lichen planus -MONDO:0860900 lichen planus pemphigoides GARD:12677 MONDO:equivalentTo Lichen planus pemphigoides -MONDO:0860901 lipoic acid synthetase deficiency GARD:12678 MONDO:equivalentTo Lipoic acid synthetase deficiency -MONDO:0860902 lipoic acid biosynthesis defect GARD:12679 MONDO:equivalentTo Lipoic acid biosynthesis defect -MONDO:0860903 lipoyl transferase 1 deficiency GARD:12680 MONDO:equivalentTo Lipoyl transferase 1 deficiency -MONDO:0860904 childhood-onset spasticity with hyperglycinemia GARD:12681 MONDO:equivalentTo Childhood-onset spasticity with hyperglycinemia -MONDO:0860905 horizontal gaze palsy with progressive scoliosis GARD:12682 MONDO:equivalentTo Horizontal gaze palsy with progressive scoliosis -MONDO:0860906 distal hereditary motor neuropathy GARD:12683 MONDO:equivalentTo Distal hereditary motor neuropathy -MONDO:0860907 familial episodic pain syndrome GARD:12684 MONDO:equivalentTo Familial episodic pain syndrome -MONDO:0860908 diffuse cutaneous mastocytosis GARD:12686 MONDO:equivalentTo Diffuse cutaneous mastocytosis -MONDO:0860909 cutaneous mastocytoma GARD:12687 MONDO:equivalentTo Cutaneous mastocytoma -MONDO:0860910 hereditary sensory and autonomic neuropathy GARD:12688 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy -MONDO:0860911 tumor of cranial and spinal nerves GARD:12697 MONDO:equivalentTo Tumor of cranial and spinal nerves -MONDO:0860912 perineurioma GARD:12698 MONDO:equivalentTo Perineurioma -MONDO:0860913 summitt syndrome GARD:127 MONDO:equivalentTo Summitt syndrome -MONDO:0860914 osteochondritis dissecans GARD:12703 MONDO:equivalentTo Osteochondritis dissecans -MONDO:0860915 osteochondrosis GARD:12704 MONDO:equivalentTo Osteochondrosis -MONDO:0860916 painful legs and moving toes syndrome GARD:12706 MONDO:equivalentTo Painful legs and moving toes syndrome -MONDO:0860917 congenital laryngeal palsy GARD:12713 MONDO:equivalentTo Congenital laryngeal palsy -MONDO:0860918 x-linked intellectual disability-hypotonia-movement disorder syndrome GARD:12715 MONDO:equivalentTo X-linked intellectual disability-hypotonia-movement disorder syndrome -MONDO:0860919 elastoderma GARD:12716 MONDO:equivalentTo Elastoderma -MONDO:0860920 autosomal recessive centronuclear myopathy GARD:12718 MONDO:equivalentTo Autosomal recessive centronuclear myopathy -MONDO:0860921 autosomal dominant centronuclear myopathy GARD:12719 MONDO:equivalentTo Autosomal dominant centronuclear myopathy -MONDO:0860922 fingerprint body myopathy GARD:12720 MONDO:equivalentTo Fingerprint body myopathy -MONDO:0860923 familial dyskinesia and facial myokymia GARD:12722 MONDO:equivalentTo Familial dyskinesia and facial myokymia -MONDO:0860924 periventricular nodular heterotopia GARD:12724 MONDO:equivalentTo Periventricular nodular heterotopia -MONDO:0860925 x-linked hereditary sensory and autonomic neuropathy with deafness GARD:12731 MONDO:equivalentTo X-linked hereditary sensory and autonomic neuropathy with deafness -MONDO:0860926 hereditary sensory and autonomic neuropathy type 7 GARD:12732 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 7 -MONDO:0860927 rare hereditary disease with peripheral neuropathy GARD:12733 MONDO:equivalentTo Rare hereditary disease with peripheral neuropathy -MONDO:0860928 glomerular disease GARD:12736 MONDO:equivalentTo Glomerular disease -MONDO:0860929 pierre robin syndrome-faciodigital anomaly syndrome GARD:1274 MONDO:equivalentTo Pierre Robin syndrome-faciodigital anomaly syndrome -MONDO:0860930 non-amyloid fibrillary glomerulopathy GARD:12740 MONDO:equivalentTo Non-amyloid fibrillary glomerulopathy -MONDO:0860931 immunotactoid or fibrillary glomerulopathy GARD:12741 MONDO:equivalentTo Immunotactoid or fibrillary glomerulopathy -MONDO:0860932 juvenile polymyositis GARD:12742 MONDO:equivalentTo Juvenile polymyositis -MONDO:0860933 chronic intestinal pseudoobstruction GARD:12744 MONDO:equivalentTo Chronic intestinal pseudoobstruction -MONDO:0860934 autosomal recessive spastic paraplegia type 32 GARD:12749 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 32 -MONDO:0860935 acute myeloid leukemia GARD:12757 MONDO:equivalentTo Acute myeloid leukemia -MONDO:0860936 acute myeloid leukemia with recurrent genetic anomaly GARD:12758 MONDO:equivalentTo Acute myeloid leukemia with recurrent genetic anomaly -MONDO:0860937 acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) GARD:12759 MONDO:equivalentTo Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) -MONDO:0860938 unclassified acute myeloid leukemia GARD:12760 MONDO:equivalentTo Unclassified acute myeloid leukemia -MONDO:0860939 acute myeloid leukaemia with myelodysplasia-related features GARD:12761 MONDO:equivalentTo Acute myeloid leukaemia with myelodysplasia-related features -MONDO:0860940 therapy related acute myeloid leukemia and myelodysplastic syndrome GARD:12762 MONDO:equivalentTo Therapy related acute myeloid leukemia and myelodysplastic syndrome -MONDO:0860941 myeloid sarcoma GARD:12763 MONDO:equivalentTo Myeloid sarcoma -MONDO:0860942 transient myeloproliferative syndrome GARD:12765 MONDO:equivalentTo Transient myeloproliferative syndrome -MONDO:0860943 microduplication xp11.22p11.23 syndrome GARD:12766 MONDO:equivalentTo Microduplication Xp11.22p11.23 syndrome -MONDO:0860944 reversible cerebral vasoconstriction syndrome GARD:12768 MONDO:equivalentTo Reversible cerebral vasoconstriction syndrome -MONDO:0860945 rare malignant breast tumor GARD:12772 MONDO:equivalentTo Rare malignant breast tumor -MONDO:0860946 rare adenocarcinoma of the breast GARD:12773 MONDO:equivalentTo Rare adenocarcinoma of the breast -MONDO:0860947 salivary gland type cancer of the breast GARD:12774 MONDO:equivalentTo Salivary gland type cancer of the breast -MONDO:0860948 rare benign breast tumor GARD:12775 MONDO:equivalentTo Rare benign breast tumor -MONDO:0860949 multiple congenital anomalies-hypotonia-seizures syndrome type 2 GARD:12777 MONDO:equivalentTo Multiple congenital anomalies-hypotonia-seizures syndrome type 2 -MONDO:0860950 familial retinal arterial macroaneurysm GARD:12779 MONDO:equivalentTo Familial retinal arterial macroaneurysm -MONDO:0860951 multiple congenital anomalies-hypotonia-seizures syndrome GARD:12781 MONDO:equivalentTo Multiple congenital anomalies-hypotonia-seizures syndrome -MONDO:0860952 congenital disorder of glycosylation with developmental anomaly GARD:12782 MONDO:equivalentTo Congenital disorder of glycosylation with developmental anomaly -MONDO:0860953 livedoid vasculopathy GARD:12784 MONDO:equivalentTo Livedoid vasculopathy -MONDO:0860954 autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form GARD:12794 MONDO:equivalentTo Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form -MONDO:0860955 dentinogenesis imperfecta type 2 GARD:12796 MONDO:equivalentTo Dentinogenesis imperfecta type 2 -MONDO:0860956 early-onset autosomal dominant alzheimer disease GARD:12798 MONDO:equivalentTo Early-onset autosomal dominant Alzheimer disease -MONDO:0860957 primary sclerosing cholangitis GARD:1280 MONDO:equivalentTo Primary sclerosing cholangitis -MONDO:0860958 pten hamartoma tumor syndrome GARD:12800 MONDO:equivalentTo PTEN hamartoma tumor syndrome -MONDO:0860959 proteus-like syndrome GARD:12801 MONDO:equivalentTo Proteus-like syndrome -MONDO:0860960 autosomal dominant spondylocostal dysostosis GARD:12806 MONDO:equivalentTo Autosomal dominant spondylocostal dysostosis -MONDO:0860961 multisystemic smooth muscle dysfunction syndrome GARD:12811 MONDO:equivalentTo Multisystemic smooth muscle dysfunction syndrome -MONDO:0860962 8q24.3 microdeletion syndrome GARD:12814 MONDO:equivalentTo 8q24.3 microdeletion syndrome -MONDO:0860963 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome GARD:12815 MONDO:equivalentTo Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome -MONDO:0860964 8q12 microduplication syndrome GARD:12816 MONDO:equivalentTo 8q12 microduplication syndrome -MONDO:0860965 generalized pustular psoriasis GARD:12819 MONDO:equivalentTo Generalized pustular psoriasis -MONDO:0860966 pustulosis palmaris et plantaris GARD:12820 MONDO:equivalentTo Pustulosis palmaris et plantaris -MONDO:0860967 severe congenital nemaline myopathy GARD:12821 MONDO:equivalentTo Severe congenital nemaline myopathy -MONDO:0860968 typical nemaline myopathy GARD:12822 MONDO:equivalentTo Typical nemaline myopathy -MONDO:0860969 intermediate nemaline myopathy GARD:12823 MONDO:equivalentTo Intermediate nemaline myopathy -MONDO:0860970 adult-onset nemaline myopathy GARD:12824 MONDO:equivalentTo Adult-onset nemaline myopathy -MONDO:0860971 foxg1 syndrome GARD:12825 MONDO:equivalentTo FOXG1 syndrome -MONDO:0860972 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome GARD:12827 MONDO:equivalentTo Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome -MONDO:0860973 pulmonary non-tuberculous mycobacterial infection GARD:12829 MONDO:equivalentTo Pulmonary non-tuberculous mycobacterial infection -MONDO:0860974 acute interstitial pneumonia GARD:12835 MONDO:equivalentTo Acute interstitial pneumonia -MONDO:0860975 disseminated peritoneal leiomyomatosis GARD:12843 MONDO:equivalentTo Disseminated peritoneal leiomyomatosis -MONDO:0860976 high myopia-sensorineural deafness syndrome GARD:12844 MONDO:equivalentTo High myopia-sensorineural deafness syndrome -MONDO:0860977 cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome GARD:12845 MONDO:equivalentTo Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome -MONDO:0860978 paroxysmal extreme pain disorder GARD:12854 MONDO:equivalentTo Paroxysmal extreme pain disorder -MONDO:0860979 spinocerebellar ataxia with axonal neuropathy type 2 GARD:12860 MONDO:equivalentTo Spinocerebellar ataxia with axonal neuropathy type 2 -MONDO:0860980 rfvt3-related riboflavin transporter deficiency GARD:12861 MONDO:equivalentTo RFVT3-related riboflavin transporter deficiency -MONDO:0860981 generalized peeling skin syndrome GARD:12862 MONDO:equivalentTo Generalized peeling skin syndrome -MONDO:0860982 acral peeling skin syndrome GARD:12863 MONDO:equivalentTo Acral peeling skin syndrome -MONDO:0860983 hyperlipidemia due to hepatic triacylglycerol lipase deficiency GARD:12864 MONDO:equivalentTo Hyperlipidemia due to hepatic triacylglycerol lipase deficiency -MONDO:0860984 cushing disease GARD:12867 MONDO:equivalentTo Cushing disease -MONDO:0860985 irvan syndrome GARD:12868 MONDO:equivalentTo IRVAN syndrome -MONDO:0860986 progressive familial intrahepatic cholestasis type 2 GARD:1288 MONDO:equivalentTo Progressive familial intrahepatic cholestasis type 2 -MONDO:0860987 isolated childhood apraxia of speech GARD:12889 MONDO:equivalentTo Isolated childhood apraxia of speech -MONDO:0860988 progressive familial intrahepatic cholestasis type 3 GARD:1289 MONDO:equivalentTo Progressive familial intrahepatic cholestasis type 3 -MONDO:0860989 infantile hypertrophic cardiomyopathy due to mrpl44 deficiency GARD:12892 MONDO:equivalentTo Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency -MONDO:0860990 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome GARD:12893 MONDO:equivalentTo Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome -MONDO:0860991 zika virus disease GARD:12894 MONDO:equivalentTo Zika virus disease -MONDO:0860992 optic atrophy-intellectual disability syndrome GARD:12903 MONDO:equivalentTo Optic atrophy-intellectual disability syndrome -MONDO:0860993 polyhydramnios-megalencephaly-symptomatic epilepsy syndrome GARD:12913 MONDO:equivalentTo Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome -MONDO:0860994 x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency GARD:12915 MONDO:equivalentTo X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency -MONDO:0860995 rh deficiency syndrome GARD:12916 MONDO:equivalentTo Rh deficiency syndrome -MONDO:0860996 malignant migrating focal seizures of infancy GARD:12919 MONDO:equivalentTo Malignant migrating focal seizures of infancy -MONDO:0860997 familial calcium pyrophosphate deposition GARD:1292 MONDO:equivalentTo Familial calcium pyrophosphate deposition -MONDO:0860998 late-onset junctional epidermolysis bullosa GARD:12921 MONDO:equivalentTo Late-onset junctional epidermolysis bullosa -MONDO:0860999 intermediate generalized junctional epidermolysis bullosa GARD:12922 MONDO:equivalentTo Intermediate generalized junctional epidermolysis bullosa -MONDO:0861000 localized junctional epidermolysis bullosa GARD:12923 MONDO:equivalentTo Localized junctional epidermolysis bullosa -MONDO:0861001 preeclampsia GARD:12924 MONDO:equivalentTo Preeclampsia -MONDO:0861002 familial multiple lipomatosis GARD:12925 MONDO:equivalentTo Familial multiple lipomatosis -MONDO:0861003 acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma GARD:12927 MONDO:equivalentTo Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma -MONDO:0861004 astrocytoma GARD:12928 MONDO:equivalentTo Astrocytoma -MONDO:0861005 adnp syndrome GARD:12931 MONDO:equivalentTo ADNP syndrome -MONDO:0861006 x-linked hypophosphatemia GARD:12943 MONDO:equivalentTo X-linked hypophosphatemia -MONDO:0861007 primary orthostatic hypotension GARD:12959 MONDO:equivalentTo Primary orthostatic hypotension -MONDO:0861008 brachytelephalangic chondrodysplasia punctata GARD:1296 MONDO:equivalentTo Brachytelephalangic chondrodysplasia punctata -MONDO:0861009 megdel syndrome GARD:12963 MONDO:equivalentTo MEGDEL syndrome -MONDO:0861010 dilated cardiomyopathy with ataxia GARD:12964 MONDO:equivalentTo Dilated cardiomyopathy with ataxia -MONDO:0861011 3-methylglutaconic aciduria GARD:12966 MONDO:equivalentTo 3-methylglutaconic aciduria -MONDO:0861012 mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency GARD:12976 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency -MONDO:0861013 mendelian susceptibility to mycobacterial diseases GARD:12977 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases -MONDO:0861014 proximal myopathy with extrapyramidal signs GARD:12978 MONDO:equivalentTo Proximal myopathy with extrapyramidal signs -MONDO:0861015 monoclonal mast cell activation syndrome GARD:12980 MONDO:equivalentTo Monoclonal mast cell activation syndrome -MONDO:0861016 hereditary folate malabsorption GARD:12983 MONDO:equivalentTo Hereditary folate malabsorption -MONDO:0861017 acyl-coa dehydrogenase 9 deficiency GARD:12986 MONDO:equivalentTo Acyl-CoA dehydrogenase 9 deficiency -MONDO:0861018 hereditary sensory and autonomic neuropathy type 6 GARD:12987 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 6 -MONDO:0861019 aquagenic palmoplantar keratoderma GARD:12991 MONDO:equivalentTo Aquagenic palmoplantar keratoderma -MONDO:0861020 aniridia-cerebellar ataxia-intellectual disability syndrome GARD:13 MONDO:equivalentTo Aniridia-cerebellar ataxia-intellectual disability syndrome -MONDO:0861021 acromesomelic dysplasia, grebe type GARD:1300 MONDO:equivalentTo Acromesomelic dysplasia, Grebe type -MONDO:0861022 lupus erythematosus tumidus GARD:13003 MONDO:equivalentTo Lupus erythematosus tumidus -MONDO:0861023 hepatic veno-occlusive disease GARD:13004 MONDO:equivalentTo Hepatic veno-occlusive disease -MONDO:0861024 hemoglobin m disease GARD:13007 MONDO:equivalentTo Hemoglobin M disease -MONDO:0861025 ellis van creveld syndrome GARD:1301 MONDO:equivalentTo Ellis Van Creveld syndrome -MONDO:0861026 anti-neutrophil cytoplasmic antibody-associated vasculitis GARD:13011 MONDO:equivalentTo Anti-neutrophil cytoplasmic antibody-associated vasculitis -MONDO:0861027 obesity due to congenital leptin deficiency GARD:13015 MONDO:equivalentTo Obesity due to congenital leptin deficiency -MONDO:0861028 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome GARD:13016 MONDO:equivalentTo Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome -MONDO:0861029 microcystic lymphatic malformation GARD:13020 MONDO:equivalentTo Microcystic lymphatic malformation -MONDO:0861030 woolly hair nevus GARD:13025 MONDO:equivalentTo Woolly hair nevus -MONDO:0861031 chordoma GARD:1303 MONDO:equivalentTo Chordoma -MONDO:0861032 deafness-lymphedema-leukemia syndrome GARD:13030 MONDO:equivalentTo Deafness-lymphedema-leukemia syndrome -MONDO:0861033 cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation GARD:13032 MONDO:equivalentTo Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation -MONDO:0861034 neuroendocrine tumor of pancreas GARD:13034 MONDO:equivalentTo Neuroendocrine tumor of pancreas -MONDO:0861035 necrobiosis lipoidica GARD:13040 MONDO:equivalentTo Necrobiosis lipoidica -MONDO:0861036 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome GARD:13043 MONDO:equivalentTo Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome -MONDO:0861037 giant cell tumor of bone GARD:13046 MONDO:equivalentTo Giant cell tumor of bone -MONDO:0861038 germ cell tumor of testis GARD:13047 MONDO:equivalentTo Germ cell tumor of testis -MONDO:0861039 benign hereditary chorea GARD:1305 MONDO:equivalentTo Benign hereditary chorea -MONDO:0861040 congenital analbuminemia GARD:13056 MONDO:equivalentTo Congenital analbuminemia -MONDO:0861041 autosomal dominant multiple pterygium syndrome GARD:13058 MONDO:equivalentTo Autosomal dominant multiple pterygium syndrome -MONDO:0861042 distal arthrogryposis type 5d GARD:13059 MONDO:equivalentTo Distal arthrogryposis type 5D -MONDO:0861043 kcnq2-related epileptic encephalopathy GARD:13060 MONDO:equivalentTo KCNQ2-related epileptic encephalopathy -MONDO:0861044 bockenheimer syndrome GARD:13063 MONDO:equivalentTo Bockenheimer syndrome -MONDO:0861045 lewis-sumner syndrome GARD:13070 MONDO:equivalentTo Lewis-Sumner syndrome -MONDO:0861046 primary hypomagnesemia with secondary hypocalcemia GARD:13072 MONDO:equivalentTo Primary hypomagnesemia with secondary hypocalcemia -MONDO:0861047 nevus comedonicus syndrome GARD:13073 MONDO:equivalentTo Nevus comedonicus syndrome -MONDO:0861048 diffuse intrinsic pontine glioma GARD:13075 MONDO:equivalentTo Diffuse intrinsic pontine glioma -MONDO:0861049 corticosteroid-binding globulin deficiency GARD:13101 MONDO:equivalentTo Corticosteroid-binding globulin deficiency -MONDO:0861050 dent disease GARD:13105 MONDO:equivalentTo Dent disease -MONDO:0861051 mirage syndrome GARD:13108 MONDO:equivalentTo MIRAGE syndrome -MONDO:0861052 progressive encephalomyelitis with rigidity and myoclonus GARD:13110 MONDO:equivalentTo Progressive encephalomyelitis with rigidity and myoclonus -MONDO:0861053 ataxia-oculomotor apraxia type 4 GARD:13111 MONDO:equivalentTo Ataxia-oculomotor apraxia type 4 -MONDO:0861054 acute infantile liver failure-multisystemic involvement syndrome GARD:13114 MONDO:equivalentTo Acute infantile liver failure-multisystemic involvement syndrome -MONDO:0861055 chronic thromboembolic pulmonary hypertension GARD:13124 MONDO:equivalentTo Chronic thromboembolic pulmonary hypertension -MONDO:0861056 cidec-related familial partial lipodystrophy GARD:13125 MONDO:equivalentTo CIDEC-related familial partial lipodystrophy -MONDO:0861057 lipe-related familial partial lipodystrophy GARD:13126 MONDO:equivalentTo LIPE-related familial partial lipodystrophy -MONDO:0861058 infantile choroidocerebral calcification syndrome GARD:1313 MONDO:equivalentTo Infantile choroidocerebral calcification syndrome -MONDO:0861059 methylmalonic acidemia with homocystinuria, type cblx GARD:13137 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblX -MONDO:0861060 acute flaccid myelitis GARD:13142 MONDO:equivalentTo Acute flaccid myelitis -MONDO:0861061 tibial muscular dystrophy GARD:13154 MONDO:equivalentTo Tibial muscular dystrophy -MONDO:0861062 early-onset lamellar cataract GARD:13155 MONDO:equivalentTo Early-onset lamellar cataract -MONDO:0861063 oligodendroglial tumor GARD:13156 MONDO:equivalentTo Oligodendroglial tumor -MONDO:0861064 hereditary papillary renal cell carcinoma GARD:13157 MONDO:equivalentTo Hereditary papillary renal cell carcinoma -MONDO:0861065 staphylococcal scalded skin syndrome GARD:13158 MONDO:equivalentTo Staphylococcal scalded skin syndrome -MONDO:0861066 rhizomelic chondrodysplasia punctata GARD:13160 MONDO:equivalentTo Rhizomelic chondrodysplasia punctata -MONDO:0861067 methylmalonic acidemia without homocystinuria GARD:13163 MONDO:equivalentTo Methylmalonic acidemia without homocystinuria -MONDO:0861068 familial isolated trichomegaly GARD:13167 MONDO:equivalentTo Familial isolated trichomegaly -MONDO:0861069 corticobasal syndrome GARD:13168 MONDO:equivalentTo Corticobasal syndrome -MONDO:0861070 chst3-related skeletal dysplasia GARD:13169 MONDO:equivalentTo CHST3-related skeletal dysplasia -MONDO:0861071 autosomal recessive brachyolmia GARD:13171 MONDO:equivalentTo Autosomal recessive brachyolmia -MONDO:0861072 polyneuropathy associated with igm monoclonal gammapathy with anti-mag GARD:13173 MONDO:equivalentTo Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG -MONDO:0861073 renal medullary carcinoma GARD:13175 MONDO:equivalentTo Renal medullary carcinoma -MONDO:0861074 s-adenosylhomocysteine hydrolase deficiency GARD:13177 MONDO:equivalentTo S-adenosylhomocysteine hydrolase deficiency -MONDO:0861075 xanthoma disseminatum GARD:13186 MONDO:equivalentTo Xanthoma disseminatum -MONDO:0861076 chromomycosis GARD:1319 MONDO:equivalentTo Chromomycosis -MONDO:0861077 infantile-onset periodic fever-panniculitis-dermatosis syndrome GARD:13198 MONDO:equivalentTo Infantile-onset periodic fever-panniculitis-dermatosis syndrome -MONDO:0861078 cystic leukoencephalopathy without megalencephaly GARD:13199 MONDO:equivalentTo Cystic leukoencephalopathy without megalencephaly -MONDO:0861079 primary cutaneous amyloidosis GARD:132 MONDO:equivalentTo Primary cutaneous amyloidosis -MONDO:0861080 ring chromosome 1 syndrome GARD:1320 MONDO:equivalentTo Ring chromosome 1 syndrome -MONDO:0861081 mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy GARD:13200 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy -MONDO:0861082 hyperammonemic encephalopathy due to carbonic anhydrase va deficiency GARD:13201 MONDO:equivalentTo Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency -MONDO:0861083 neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency GARD:13202 MONDO:equivalentTo Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency -MONDO:0861084 2q32q33 microdeletion syndrome GARD:13206 MONDO:equivalentTo 2q32q33 microdeletion syndrome -MONDO:0861085 pituitary stalk interruption syndrome GARD:13209 MONDO:equivalentTo Pituitary stalk interruption syndrome -MONDO:0861086 renal cell carcinoma GARD:13215 MONDO:equivalentTo Renal cell carcinoma -MONDO:0861087 hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome GARD:13218 MONDO:equivalentTo Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome -MONDO:0861088 bap1-related tumor predisposition syndrome GARD:13219 MONDO:equivalentTo BAP1-related tumor predisposition syndrome -MONDO:0861089 ring chromosome 10 syndrome GARD:1322 MONDO:equivalentTo Ring chromosome 10 syndrome -MONDO:0861090 severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome GARD:13221 MONDO:equivalentTo Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome -MONDO:0861091 bicd2-related autosomal dominant childhood-onset proximal spinal muscular atrophy GARD:13222 MONDO:equivalentTo BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy -MONDO:0861092 distal monosomy 10p GARD:1323 MONDO:equivalentTo Distal monosomy 10p -MONDO:0861093 familial acute necrotizing encephalopathy GARD:13232 MONDO:equivalentTo Familial acute necrotizing encephalopathy -MONDO:0861094 marginal zone lymphoma GARD:13237 MONDO:equivalentTo Marginal zone lymphoma -MONDO:0861095 x-linked intellectual disability, cabezas type GARD:13244 MONDO:equivalentTo X-linked intellectual disability, Cabezas type -MONDO:0861096 ring chromosome 12 syndrome GARD:1325 MONDO:equivalentTo Ring chromosome 12 syndrome -MONDO:0861097 igg4-related pachymeningitis GARD:13256 MONDO:equivalentTo IgG4-related pachymeningitis -MONDO:0861098 bainbridge-ropers syndrome GARD:13259 MONDO:equivalentTo Bainbridge-Ropers syndrome -MONDO:0861099 infantile cerebellar-retinal degeneration GARD:13264 MONDO:equivalentTo Infantile cerebellar-retinal degeneration -MONDO:0861100 mosaic trisomy 14 GARD:1327 MONDO:equivalentTo Mosaic trisomy 14 -MONDO:0861101 phosphoserine aminotransferase deficiency, infantile/juvenile form GARD:13273 MONDO:equivalentTo Phosphoserine aminotransferase deficiency, infantile/juvenile form -MONDO:0861102 ring chromosome 15 syndrome GARD:1328 MONDO:equivalentTo Ring chromosome 15 syndrome -MONDO:0861103 bleeding diathesis due to glycoprotein vi deficiency GARD:13293 MONDO:equivalentTo Bleeding diathesis due to glycoprotein VI deficiency -MONDO:0861104 familial focal epilepsy with variable foci GARD:13295 MONDO:equivalentTo Familial focal epilepsy with variable foci -MONDO:0861105 17q12 microduplication syndrome GARD:13296 MONDO:equivalentTo 17q12 microduplication syndrome -MONDO:0861106 17q12 microdeletion syndrome GARD:13297 MONDO:equivalentTo 17q12 microdeletion syndrome -MONDO:0861107 mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies GARD:13298 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies -MONDO:0861108 magel2-related prader-willi-like syndrome GARD:13316 MONDO:equivalentTo MAGEL2-related Prader-Willi-like syndrome -MONDO:0861109 fatty acyl-coa reductase 1 deficiency GARD:13319 MONDO:equivalentTo Fatty acyl-CoA reductase 1 deficiency -MONDO:0861110 rhizomelic chondrodysplasia punctata type 5 GARD:13320 MONDO:equivalentTo Rhizomelic chondrodysplasia punctata type 5 -MONDO:0861111 ring chromosome 19 syndrome GARD:1333 MONDO:equivalentTo Ring chromosome 19 syndrome -MONDO:0861112 familial reactive perforating collagenosis GARD:13331 MONDO:equivalentTo Familial reactive perforating collagenosis -MONDO:0861113 idiopathic interstitial pneumonia GARD:13337 MONDO:equivalentTo Idiopathic interstitial pneumonia -MONDO:0861114 benta disease GARD:13339 MONDO:equivalentTo BENTA disease -MONDO:0861115 ring chromosome 20 syndrome GARD:1334 MONDO:equivalentTo Ring chromosome 20 syndrome -MONDO:0861116 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome GARD:13349 MONDO:equivalentTo Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome -MONDO:0861117 morning glory disc anomaly GARD:13354 MONDO:equivalentTo Morning glory disc anomaly -MONDO:0861118 ring chromosome 22 syndrome GARD:1336 MONDO:equivalentTo Ring chromosome 22 syndrome -MONDO:0861119 magic syndrome GARD:13371 MONDO:equivalentTo MAGIC syndrome -MONDO:0861120 congenital generalized lipodystrophy GARD:13388 MONDO:equivalentTo Congenital generalized lipodystrophy -MONDO:0861121 ring chromosome 4 syndrome GARD:1339 MONDO:equivalentTo Ring chromosome 4 syndrome -MONDO:0861122 12q14 microdeletion syndrome GARD:13390 MONDO:equivalentTo 12q14 microdeletion syndrome -MONDO:0861123 2p15p16.1 microdeletion syndrome GARD:13391 MONDO:equivalentTo 2p15p16.1 microdeletion syndrome -MONDO:0861124 spondyloepimetaphyseal dysplasia congenita, strudwick type GARD:134 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia congenita, Strudwick type -MONDO:0861125 ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome GARD:13409 MONDO:equivalentTo AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome -MONDO:0861126 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation GARD:13418 MONDO:equivalentTo Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation -MONDO:0861127 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome GARD:13423 MONDO:equivalentTo Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome -MONDO:0861128 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome GARD:13425 MONDO:equivalentTo Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome -MONDO:0861129 temple syndrome GARD:13431 MONDO:equivalentTo Temple syndrome -MONDO:0861130 plasmacytoma GARD:13446 MONDO:equivalentTo Plasmacytoma -MONDO:0861131 pens syndrome GARD:13447 MONDO:equivalentTo PENS syndrome -MONDO:0861132 ring chromosome 7 syndrome GARD:1345 MONDO:equivalentTo Ring chromosome 7 syndrome -MONDO:0861133 kaposiform lymphangiomatosis GARD:13451 MONDO:equivalentTo Kaposiform lymphangiomatosis -MONDO:0861134 ren-related autosomal dominant tubulointerstitial kidney disease GARD:13461 MONDO:equivalentTo REN-related autosomal dominant tubulointerstitial kidney disease -MONDO:0861135 ring chromosome 8 syndrome GARD:1347 MONDO:equivalentTo Ring chromosome 8 syndrome -MONDO:0861136 fth1-related iron overload GARD:13472 MONDO:equivalentTo FTH1-related iron overload -MONDO:0861137 intellectual disability-epilepsy-extrapyramidal syndrome GARD:13474 MONDO:equivalentTo Intellectual disability-epilepsy-extrapyramidal syndrome -MONDO:0861138 ring chromosome 9 syndrome GARD:1348 MONDO:equivalentTo Ring chromosome 9 syndrome -MONDO:0861139 mepan syndrome GARD:13488 MONDO:equivalentTo MEPAN syndrome -MONDO:0861140 brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome GARD:13489 MONDO:equivalentTo Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome -MONDO:0861141 dync1h1-related autosomal dominant childhood-onset proximal spinal muscular atrophy GARD:13519 MONDO:equivalentTo DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy -MONDO:0861142 dyrk1a-related intellectual disability syndrome GARD:13527 MONDO:equivalentTo DYRK1A-related intellectual disability syndrome -MONDO:0861143 cinca syndrome GARD:1356 MONDO:equivalentTo CINCA syndrome -MONDO:0861144 combined immunodeficiency due to lrba deficiency GARD:13565 MONDO:equivalentTo Combined immunodeficiency due to LRBA deficiency -MONDO:0861145 hereditary sensory and autonomic neuropathy due to tecpr2 mutation GARD:13568 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy due to TECPR2 mutation -MONDO:0861146 childhood encephalopathy due to thiamine pyrophosphokinase deficiency GARD:13571 MONDO:equivalentTo Childhood encephalopathy due to thiamine pyrophosphokinase deficiency -MONDO:0861147 intellectual disability-myopathy-short stature-endocrine defect syndrome GARD:1358 MONDO:equivalentTo Intellectual disability-myopathy-short stature-endocrine defect syndrome -MONDO:0861148 combined immunodeficiency with granulomatosis GARD:13587 MONDO:equivalentTo Combined immunodeficiency with granulomatosis -MONDO:0861149 pontiac fever GARD:13588 MONDO:equivalentTo Pontiac fever -MONDO:0861150 chylous ascites GARD:1359 MONDO:equivalentTo Chylous ascites -MONDO:0861151 postural orthostatic tachycardia syndrome due to net deficiency GARD:13591 MONDO:equivalentTo Postural orthostatic tachycardia syndrome due to NET deficiency -MONDO:0861152 severe congenital neutropenia GARD:13592 MONDO:equivalentTo Severe congenital neutropenia -MONDO:0861153 rosette-forming glioneuronal tumor GARD:13593 MONDO:equivalentTo Rosette-forming glioneuronal tumor -MONDO:0861154 brain dopamine-serotonin vesicular transport disease GARD:13594 MONDO:equivalentTo Brain dopamine-serotonin vesicular transport disease -MONDO:0861155 subcorneal pustular dermatosis GARD:13606 MONDO:equivalentTo Subcorneal pustular dermatosis -MONDO:0861156 pneumonia caused by pseudomonas aeruginosa infection GARD:13613 MONDO:equivalentTo Pneumonia caused by Pseudomonas aeruginosa infection -MONDO:0861157 cad-cdg GARD:13621 MONDO:equivalentTo CAD-CDG -MONDO:0861158 drug reaction with eosinophilia and systemic symptoms GARD:13629 MONDO:equivalentTo Drug reaction with eosinophilia and systemic symptoms -MONDO:0861159 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome GARD:13636 MONDO:equivalentTo Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome -MONDO:0861160 x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability GARD:13638 MONDO:equivalentTo X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability -MONDO:0861161 classic galactosemia GARD:13639 MONDO:equivalentTo Classic galactosemia -MONDO:0861162 familial cerebral cavernous malformation GARD:13641 MONDO:equivalentTo Familial cerebral cavernous malformation -MONDO:0861163 mitochondrial dna depletion syndrome GARD:13643 MONDO:equivalentTo Mitochondrial DNA depletion syndrome -MONDO:0861164 mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency GARD:13644 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency -MONDO:0861165 orofaciodigital syndrome type 14 GARD:13655 MONDO:equivalentTo Orofaciodigital syndrome type 14 -MONDO:0861166 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder GARD:13658 MONDO:equivalentTo Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder -MONDO:0861167 classic multiminicore myopathy GARD:13661 MONDO:equivalentTo Classic multiminicore myopathy -MONDO:0861168 familial sick sinus syndrome GARD:13663 MONDO:equivalentTo Familial sick sinus syndrome -MONDO:0861169 tibial aplasia-ectrodactyly syndrome GARD:1369 MONDO:equivalentTo Tibial aplasia-ectrodactyly syndrome -MONDO:0861170 primary cutaneous follicle center lymphoma GARD:13701 MONDO:equivalentTo Primary cutaneous follicle center lymphoma -MONDO:0861171 warsaw breakage syndrome GARD:13708 MONDO:equivalentTo Warsaw breakage syndrome -MONDO:0861172 combined immunodeficiency due to partial rag1 deficiency GARD:13712 MONDO:equivalentTo Combined immunodeficiency due to partial RAG1 deficiency -MONDO:0861173 t-cell prolymphocytic leukemia GARD:13731 MONDO:equivalentTo T-cell prolymphocytic leukemia -MONDO:0861174 white-sutton syndrome GARD:13774 MONDO:equivalentTo White-Sutton syndrome -MONDO:0861175 aica-ribosiduria GARD:13781 MONDO:equivalentTo AICA-ribosiduria -MONDO:0861176 luscan-lumish syndrome GARD:13789 MONDO:equivalentTo Luscan-Lumish syndrome -MONDO:0861177 chd3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome GARD:13806 MONDO:equivalentTo CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome -MONDO:0861178 fundus albipunctatus GARD:13809 MONDO:equivalentTo Fundus albipunctatus -MONDO:0861179 malan overgrowth syndrome GARD:13811 MONDO:equivalentTo Malan overgrowth syndrome -MONDO:0861180 familial steroid-resistant nephrotic syndrome with adrenal insufficiency GARD:13818 MONDO:equivalentTo Familial steroid-resistant nephrotic syndrome with adrenal insufficiency -MONDO:0861181 proteasome-associated autoinflammatory syndrome GARD:13824 MONDO:equivalentTo Proteasome-associated autoinflammatory syndrome -MONDO:0861182 familial atrial myxoma GARD:139 MONDO:equivalentTo Familial atrial myxoma -MONDO:0861183 cleft palate-lateral synechia syndrome GARD:1391 MONDO:equivalentTo Cleft palate-lateral synechia syndrome -MONDO:0861184 cleft palate-short stature-vertebral anomalies syndrome GARD:1392 MONDO:equivalentTo Cleft palate-short stature-vertebral anomalies syndrome -MONDO:0861185 cleft palate-stapes fixation-oligodontia syndrome GARD:1393 MONDO:equivalentTo Cleft palate-stapes fixation-oligodontia syndrome -MONDO:0861186 x-linked cleft palate and ankyloglossia GARD:1394 MONDO:equivalentTo X-linked cleft palate and ankyloglossia -MONDO:0861187 atresia of small intestine GARD:140 MONDO:equivalentTo Atresia of small intestine -MONDO:0861188 thanatophoric dysplasia type 2 GARD:1402 MONDO:equivalentTo Thanatophoric dysplasia type 2 -MONDO:0861189 joubert syndrome with hepatic defect GARD:1410 MONDO:equivalentTo Joubert syndrome with hepatic defect -MONDO:0861190 cocaine embryofetopathy GARD:1413 MONDO:equivalentTo Cocaine embryofetopathy -MONDO:0861191 cockayne syndrome type 1 GARD:1415 MONDO:equivalentTo Cockayne syndrome type 1 -MONDO:0861192 cockayne syndrome type 3 GARD:1417 MONDO:equivalentTo Cockayne syndrome type 3 -MONDO:0861193 codas syndrome GARD:1418 MONDO:equivalentTo CODAS syndrome -MONDO:0861194 cockayne syndrome type 2 GARD:1420 MONDO:equivalentTo Cockayne syndrome type 2 -MONDO:0861195 cogan syndrome GARD:1421 MONDO:equivalentTo Cogan syndrome -MONDO:0861196 cole-carpenter syndrome GARD:1425 MONDO:equivalentTo Cole-Carpenter syndrome -MONDO:0861197 dislocation of the hip-dysmorphism syndrome GARD:1428 MONDO:equivalentTo Dislocation of the hip-dysmorphism syndrome -MONDO:0861198 hypertrichosis cubiti GARD:143 MONDO:equivalentTo Hypertrichosis cubiti -MONDO:0861199 coloboma of eye lens GARD:1433 MONDO:equivalentTo Coloboma of eye lens -MONDO:0861200 coloboma of iris GARD:1434 MONDO:equivalentTo Coloboma of iris -MONDO:0861201 coloboma of macula GARD:1436 MONDO:equivalentTo Coloboma of macula -MONDO:0861202 coloboma of macula-brachydactyly type b syndrome GARD:1437 MONDO:equivalentTo Coloboma of macula-brachydactyly type B syndrome -MONDO:0861203 coloboma of optic disc GARD:1438 MONDO:equivalentTo Coloboma of optic disc -MONDO:0861204 prominent glabella-microcephaly-hypogenitalism syndrome GARD:144 MONDO:equivalentTo Prominent glabella-microcephaly-hypogenitalism syndrome -MONDO:0861205 uveal coloboma-cleft lip and palate-intellectual disability GARD:1440 MONDO:equivalentTo Uveal coloboma-cleft lip and palate-intellectual disability -MONDO:0861206 anophthalmia/microphthalmia-esophageal atresia syndrome GARD:1443 MONDO:equivalentTo Anophthalmia/microphthalmia-esophageal atresia syndrome -MONDO:0861207 colonic atresia GARD:1446 MONDO:equivalentTo Colonic atresia -MONDO:0861208 complete atrioventricular septal defect GARD:1454 MONDO:equivalentTo Complete atrioventricular septal defect -MONDO:0861209 conductive deafness-malformed external ear syndrome GARD:1460 MONDO:equivalentTo Conductive deafness-malformed external ear syndrome -MONDO:0861210 jalili syndrome GARD:1463 MONDO:equivalentTo Jalili syndrome -MONDO:0861211 congenital lipoid adrenal hyperplasia due to star deficency GARD:1465 MONDO:equivalentTo Congenital lipoid adrenal hyperplasia due to STAR deficency -MONDO:0861212 congenital adrenal hyperplasia GARD:1467 MONDO:equivalentTo Congenital adrenal hyperplasia -MONDO:0861213 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency GARD:1469 MONDO:equivalentTo Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency -MONDO:0861214 autosomal dominant congenital benign spinal muscular atrophy GARD:1474 MONDO:equivalentTo Autosomal dominant congenital benign spinal muscular atrophy -MONDO:0861215 congenital respiratory-biliary fistula GARD:1475 MONDO:equivalentTo Congenital respiratory-biliary fistula -MONDO:0861216 fetal cytomegalovirus syndrome GARD:1480 MONDO:equivalentTo Fetal cytomegalovirus syndrome -MONDO:0861217 congenital diaphragmatic hernia GARD:1481 MONDO:equivalentTo Congenital diaphragmatic hernia -MONDO:0861218 congenital hypothyroidism GARD:1487 MONDO:equivalentTo Congenital hypothyroidism -MONDO:0861219 congenital ichthyosis-microcephalus-tetraplegia syndrome GARD:1489 MONDO:equivalentTo Congenital ichthyosis-microcephalus-tetraplegia syndrome -MONDO:0861220 congenital mesoblastic nephroma GARD:1493 MONDO:equivalentTo Congenital mesoblastic nephroma -MONDO:0861221 congenital mitral malformation GARD:1495 MONDO:equivalentTo Congenital mitral malformation -MONDO:0861222 congenital mitral stenosis GARD:1496 MONDO:equivalentTo Congenital mitral stenosis -MONDO:0861223 congenital nephrotic syndrome, finnish type GARD:1500 MONDO:equivalentTo Congenital nephrotic syndrome, Finnish type -MONDO:0861224 lig4 syndrome GARD:15000 MONDO:equivalentTo LIG4 syndrome -MONDO:0861225 vexas syndrome GARD:15001 MONDO:equivalentTo VEXAS syndrome -MONDO:0861226 complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome GARD:15003 MONDO:equivalentTo Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome -MONDO:0861227 fadd-related immunodeficiency GARD:15004 MONDO:equivalentTo FADD-related immunodeficiency -MONDO:0861228 hereditary breast and ovarian cancer syndrome GARD:15010 MONDO:equivalentTo Hereditary breast and ovarian cancer syndrome -MONDO:0861229 autosomal recessive malignant osteopetrosis GARD:15012 MONDO:equivalentTo Autosomal recessive malignant osteopetrosis -MONDO:0861230 craniometaphyseal dysplasia GARD:15013 MONDO:equivalentTo Craniometaphyseal dysplasia -MONDO:0861231 solitary fibrous tumor/hemangiopericytoma GARD:15014 MONDO:equivalentTo Solitary fibrous tumor/hemangiopericytoma -MONDO:0861232 achromatopsia GARD:15015 MONDO:equivalentTo Achromatopsia -MONDO:0861233 striate palmoplantar keratoderma GARD:15016 MONDO:equivalentTo Striate palmoplantar keratoderma -MONDO:0861234 trichorhinophalangeal syndrome type 1 and 3 GARD:15017 MONDO:equivalentTo Trichorhinophalangeal syndrome type 1 and 3 -MONDO:0861235 interatrial communication GARD:15018 MONDO:equivalentTo Interatrial communication -MONDO:0861236 fibronectin glomerulopathy GARD:15019 MONDO:equivalentTo Fibronectin glomerulopathy -MONDO:0861237 short bowel syndrome GARD:1502 MONDO:equivalentTo Short bowel syndrome -MONDO:0861238 non-acquired panhypopituitarism GARD:15020 MONDO:equivalentTo Non-acquired panhypopituitarism -MONDO:0861239 angioma serpiginosum GARD:15021 MONDO:equivalentTo Angioma serpiginosum -MONDO:0861240 postsynaptic congenital myasthenic syndromes GARD:15022 MONDO:equivalentTo Postsynaptic congenital myasthenic syndromes -MONDO:0861241 presynaptic congenital myasthenic syndromes GARD:15023 MONDO:equivalentTo Presynaptic congenital myasthenic syndromes -MONDO:0861242 multiple epiphyseal dysplasia due to collagen 9 anomaly GARD:15024 MONDO:equivalentTo Multiple epiphyseal dysplasia due to collagen 9 anomaly -MONDO:0861243 immunodeficiency due to a classical component pathway complement deficiency GARD:15025 MONDO:equivalentTo Immunodeficiency due to a classical component pathway complement deficiency -MONDO:0861244 hermansky-pudlak syndrome due to ap-3 deficiency GARD:15026 MONDO:equivalentTo Hermansky-Pudlak syndrome due to AP-3 deficiency -MONDO:0861245 pulmonary capillary hemangiomatosis GARD:15027 MONDO:equivalentTo Pulmonary capillary hemangiomatosis -MONDO:0861246 non-specific early-onset epileptic encephalopathy GARD:15028 MONDO:equivalentTo Non-specific early-onset epileptic encephalopathy -MONDO:0861247 femoral agenesis/hypoplasia GARD:1503 MONDO:equivalentTo Femoral agenesis/hypoplasia -MONDO:0861248 hereditary continuous muscle fiber activity GARD:1512 MONDO:equivalentTo Hereditary continuous muscle fiber activity -MONDO:0861249 continuous spikes and waves during sleep GARD:1513 MONDO:equivalentTo Continuous spikes and waves during sleep -MONDO:0861250 contractures-ectodermal dysplasia-cleft lip/palate syndrome GARD:1515 MONDO:equivalentTo Contractures-ectodermal dysplasia-cleft lip/palate syndrome -MONDO:0861251 restrictive dermopathy GARD:1516 MONDO:equivalentTo Restrictive dermopathy -MONDO:0861252 benign familial neonatal-infantile seizures GARD:1518 MONDO:equivalentTo Benign familial neonatal-infantile seizures -MONDO:0861253 benign familial neonatal epilepsy GARD:1519 MONDO:equivalentTo Benign familial neonatal epilepsy -MONDO:0861254 menkes disease GARD:1521 MONDO:equivalentTo Menkes disease -MONDO:0861255 familial benign copper deficiency GARD:1522 MONDO:equivalentTo Familial benign copper deficiency -MONDO:0861256 spinocerebellar degeneration-corneal dystrophy syndrome GARD:1525 MONDO:equivalentTo Spinocerebellar degeneration-corneal dystrophy syndrome -MONDO:0861257 progressive familial intrahepatic cholestasis GARD:15255 MONDO:equivalentTo Progressive familial intrahepatic cholestasis -MONDO:0861258 corneal dystrophy-perceptive deafness syndrome GARD:1529 MONDO:equivalentTo Corneal dystrophy-perceptive deafness syndrome -MONDO:0861259 corneodermatoosseous syndrome GARD:1531 MONDO:equivalentTo Corneodermatoosseous syndrome -MONDO:0861260 coronary arterial fistula GARD:1533 MONDO:equivalentTo Coronary arterial fistula -MONDO:0861261 coronary artery congenital malformation GARD:1534 MONDO:equivalentTo Coronary artery congenital malformation -MONDO:0861262 corpus callosum agenesis-neuronopathy syndrome GARD:1537 MONDO:equivalentTo Corpus callosum agenesis-neuronopathy syndrome -MONDO:0861263 congenitally corrected transposition of the great arteries GARD:1544 MONDO:equivalentTo Congenitally corrected transposition of the great arteries -MONDO:0861264 cortical blindness-intellectual disability-polydactyly syndrome GARD:1548 MONDO:equivalentTo Cortical blindness-intellectual disability-polydactyly syndrome -MONDO:0861265 laurin-sandrow syndrome GARD:155 MONDO:equivalentTo Laurin-Sandrow syndrome -MONDO:0861266 costello syndrome GARD:1550 MONDO:equivalentTo Costello syndrome -MONDO:0861267 congenitally short costocoracoid ligament GARD:1551 MONDO:equivalentTo Congenitally short costocoracoid ligament -MONDO:0861268 pelviscapular dysplasia GARD:1555 MONDO:equivalentTo Pelviscapular dysplasia -MONDO:0861269 coxoauricular syndrome GARD:1558 MONDO:equivalentTo Coxoauricular syndrome -MONDO:0861270 muscle-eye-brain disease GARD:156 MONDO:equivalentTo Muscle-eye-brain disease -MONDO:0861271 crandall syndrome GARD:1561 MONDO:equivalentTo Crandall syndrome -MONDO:0861272 cranio-osteoarthropathy GARD:1564 MONDO:equivalentTo Cranio-osteoarthropathy -MONDO:0861273 craniodiaphyseal dysplasia GARD:1567 MONDO:equivalentTo Craniodiaphyseal dysplasia -MONDO:0861274 hirschsprung disease-deafness-polydactyly syndrome GARD:157 MONDO:equivalentTo Hirschsprung disease-deafness-polydactyly syndrome -MONDO:0861275 craniofacial-deafness-hand syndrome GARD:1571 MONDO:equivalentTo Craniofacial-deafness-hand syndrome -MONDO:0861276 non-syndromic bilambdoid and sagittal craniosynostosis GARD:1575 MONDO:equivalentTo Non-syndromic bilambdoid and sagittal craniosynostosis -MONDO:0861277 craniofrontonasal dysplasia GARD:1578 MONDO:equivalentTo Craniofrontonasal dysplasia -MONDO:0861278 sarcosinemia GARD:158 MONDO:equivalentTo Sarcosinemia -MONDO:0861279 craniomicromelic syndrome GARD:1583 MONDO:equivalentTo Craniomicromelic syndrome -MONDO:0861280 scalp-ear-nipple syndrome GARD:159 MONDO:equivalentTo Scalp-ear-nipple syndrome -MONDO:0861281 ocular motor apraxia, cogan type GARD:16 MONDO:equivalentTo Ocular motor apraxia, Cogan type -MONDO:0861282 satoyoshi syndrome GARD:160 MONDO:equivalentTo Satoyoshi syndrome -MONDO:0861283 craniosynostosis, philadelphia type GARD:1601 MONDO:equivalentTo Craniosynostosis, Philadelphia type -MONDO:0861284 baller-gerold syndrome GARD:1602 MONDO:equivalentTo Baller-Gerold syndrome -MONDO:0861285 craniotelencephalic dysplasia GARD:1605 MONDO:equivalentTo Craniotelencephalic dysplasia -MONDO:0861286 congenital limbs-face contractures-hypotonia-developmental delay syndrome GARD:16075 MONDO:equivalentTo Congenital limbs-face contractures-hypotonia-developmental delay syndrome -MONDO:0861287 x-linked creatine transporter deficiency GARD:1608 MONDO:equivalentTo X-linked creatine transporter deficiency -MONDO:0861288 creeping myiasis GARD:1609 MONDO:equivalentTo Creeping myiasis -MONDO:0861289 crisponi syndrome GARD:1611 MONDO:equivalentTo Crisponi syndrome -MONDO:0861290 familial exudative vitreoretinopathy GARD:1613 MONDO:equivalentTo Familial exudative vitreoretinopathy -MONDO:0861291 cataract-nephropathy-encephalopathy syndrome GARD:1614 MONDO:equivalentTo Cataract-nephropathy-encephalopathy syndrome -MONDO:0861292 crossed polysyndactyly GARD:1617 MONDO:equivalentTo Crossed polysyndactyly -MONDO:0861293 cleft palate-large ears-small head syndrome GARD:162 MONDO:equivalentTo Cleft palate-large ears-small head syndrome -MONDO:0861294 cryptogenic organizing pneumonia GARD:1620 MONDO:equivalentTo Cryptogenic organizing pneumonia -MONDO:0861295 currarino syndrome GARD:1626 MONDO:equivalentTo Currarino syndrome -MONDO:0861296 cutaneous larva migrans GARD:1629 MONDO:equivalentTo Cutaneous larva migrans -MONDO:0861297 cutaneous photosensitivity-lethal colitis syndrome GARD:1633 MONDO:equivalentTo Cutaneous photosensitivity-lethal colitis syndrome -MONDO:0861298 autosomal recessive cutis laxa type 2a GARD:1638 MONDO:equivalentTo Autosomal recessive cutis laxa type 2A -MONDO:0861299 autosomal dominant cutis laxa GARD:1639 MONDO:equivalentTo Autosomal dominant cutis laxa -MONDO:0861300 autosomal recessive cutis laxa type 2b GARD:1641 MONDO:equivalentTo Autosomal recessive cutis laxa type 2B -MONDO:0861301 primary cutis verticis gyrata GARD:1643 MONDO:equivalentTo Primary cutis verticis gyrata -MONDO:0861302 thyrocerebrorenal syndrome GARD:1646 MONDO:equivalentTo Thyrocerebrorenal syndrome -MONDO:0861303 mitochondrial dna-related progressive external ophthalmoplegia GARD:16479 MONDO:equivalentTo Mitochondrial DNA-related progressive external ophthalmoplegia -MONDO:0861304 sorsby pseudoinflammatory fundus dystrophy GARD:16480 MONDO:equivalentTo Sorsby pseudoinflammatory fundus dystrophy -MONDO:0861305 methylmalonic aciduria due to transcobalamin receptor defect GARD:16481 MONDO:equivalentTo Methylmalonic aciduria due to transcobalamin receptor defect -MONDO:0861306 rieger anomaly GARD:16482 MONDO:equivalentTo Rieger anomaly -MONDO:0861307 anterior segment developmental anomaly without extraocular manifestations GARD:16484 MONDO:equivalentTo Anterior segment developmental anomaly without extraocular manifestations -MONDO:0861308 axenfeld anomaly GARD:16485 MONDO:equivalentTo Axenfeld anomaly -MONDO:0861309 autosomal dominant progressive external ophthalmoplegia GARD:16486 MONDO:equivalentTo Autosomal dominant progressive external ophthalmoplegia -MONDO:0861310 c3 glomerulonephritis GARD:16487 MONDO:equivalentTo C3 glomerulonephritis -MONDO:0861311 complement component 3 deficiency GARD:16489 MONDO:equivalentTo Complement component 3 deficiency -MONDO:0861312 primary early-onset glaucoma GARD:16490 MONDO:equivalentTo Primary early-onset glaucoma -MONDO:0861313 citrullinemia GARD:16522 MONDO:equivalentTo Citrullinemia -MONDO:0861314 glycogen storage disease due to glucose-6-phosphatase deficiency GARD:16523 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency -MONDO:0861315 focal facial dermal dysplasia type i GARD:16524 MONDO:equivalentTo Focal facial dermal dysplasia type I -MONDO:0861316 crigler-najjar syndrome GARD:16526 MONDO:equivalentTo Crigler-Najjar syndrome -MONDO:0861317 ependymal tumor GARD:16527 MONDO:equivalentTo Ependymal tumor -MONDO:0861318 erythrokeratodermia variabilis GARD:16528 MONDO:equivalentTo Erythrokeratodermia variabilis -MONDO:0861319 classic hodgkin lymphoma GARD:16529 MONDO:equivalentTo Classic Hodgkin lymphoma -MONDO:0861320 primary hyperoxaluria GARD:16530 MONDO:equivalentTo Primary hyperoxaluria -MONDO:0861321 idiopathic/heritable pulmonary arterial hypertension GARD:16531 MONDO:equivalentTo Idiopathic/heritable pulmonary arterial hypertension -MONDO:0861322 familial hypoaldosteronism GARD:16532 MONDO:equivalentTo Familial hypoaldosteronism -MONDO:0861323 normosmic congenital hypogonadotropic hypogonadism GARD:16533 MONDO:equivalentTo Normosmic congenital hypogonadotropic hypogonadism -MONDO:0861324 non-syndromic anorectal malformation GARD:16534 MONDO:equivalentTo Non-syndromic anorectal malformation -MONDO:0861325 marfan syndrome GARD:16535 MONDO:equivalentTo Marfan syndrome -MONDO:0861326 multiminicore myopathy GARD:16536 MONDO:equivalentTo Multiminicore myopathy -MONDO:0861327 homocystinuria without methylmalonic aciduria GARD:16537 MONDO:equivalentTo Homocystinuria without methylmalonic aciduria -MONDO:0861328 short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinemia GARD:16538 MONDO:equivalentTo Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia -MONDO:0861329 lcat deficiency GARD:16539 MONDO:equivalentTo LCAT deficiency -MONDO:0861330 familial aortic dissection GARD:1654 MONDO:equivalentTo Familial aortic dissection -MONDO:0861331 omphalocele GARD:16540 MONDO:equivalentTo Omphalocele -MONDO:0861332 hemolytic anemia due to glucophosphate isomerase deficiency GARD:16541 MONDO:equivalentTo Hemolytic anemia due to glucophosphate isomerase deficiency -MONDO:0861333 porokeratosis plantaris palmaris et disseminata GARD:16542 MONDO:equivalentTo Porokeratosis plantaris palmaris et disseminata -MONDO:0861334 severe hereditary thrombophilia due to congenital protein s deficiency GARD:16543 MONDO:equivalentTo Severe hereditary thrombophilia due to congenital protein S deficiency -MONDO:0861335 severe hereditary thrombophilia due to congenital protein c deficiency GARD:16544 MONDO:equivalentTo Severe hereditary thrombophilia due to congenital protein C deficiency -MONDO:0861336 pseudohypoaldosteronism type 1 GARD:16545 MONDO:equivalentTo Pseudohypoaldosteronism type 1 -MONDO:0861337 central precocious puberty GARD:16546 MONDO:equivalentTo Central precocious puberty -MONDO:0861338 familial long qt syndrome GARD:16547 MONDO:equivalentTo Familial long QT syndrome -MONDO:0861339 estrogen resistance syndrome GARD:16548 MONDO:equivalentTo Estrogen resistance syndrome -MONDO:0861340 encephalopathy due to sulfite oxidase deficiency GARD:16549 MONDO:equivalentTo Encephalopathy due to sulfite oxidase deficiency -MONDO:0861341 lown-ganong-levine syndrome GARD:16550 MONDO:equivalentTo Lown-Ganong-Levine syndrome -MONDO:0861342 acro-renal-ocular syndrome GARD:16551 MONDO:equivalentTo Acro-renal-ocular syndrome -MONDO:0861343 testicular regression syndrome GARD:16552 MONDO:equivalentTo Testicular regression syndrome -MONDO:0861344 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome GARD:16553 MONDO:equivalentTo Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome -MONDO:0861345 autosomal recessive amelia GARD:16554 MONDO:equivalentTo Autosomal recessive amelia -MONDO:0861346 microlissencephaly GARD:16555 MONDO:equivalentTo Microlissencephaly -MONDO:0861347 sheldon-hall syndrome GARD:16556 MONDO:equivalentTo Sheldon-Hall syndrome -MONDO:0861348 congenital unilateral hypoplasia of depressor anguli oris GARD:16557 MONDO:equivalentTo Congenital unilateral hypoplasia of depressor anguli oris -MONDO:0861349 x-linked progressive cerebellar ataxia GARD:16558 MONDO:equivalentTo X-linked progressive cerebellar ataxia -MONDO:0861350 ataxia-tapetoretinal degeneration syndrome GARD:16559 MONDO:equivalentTo Ataxia-tapetoretinal degeneration syndrome -MONDO:0861351 spastic ataxia with congenital miosis GARD:16560 MONDO:equivalentTo Spastic ataxia with congenital miosis -MONDO:0861352 tmem70-related mitochondrial encephalo-cardio-myopathy GARD:16561 MONDO:equivalentTo TMEM70-related mitochondrial encephalo-cardio-myopathy -MONDO:0861353 brachytelephalangy-dysmorphism-kallmann syndrome GARD:16562 MONDO:equivalentTo Brachytelephalangy-dysmorphism-Kallmann syndrome -MONDO:0861354 hyperkeratosis-hyperpigmentation syndrome GARD:16563 MONDO:equivalentTo Hyperkeratosis-hyperpigmentation syndrome -MONDO:0861355 atrial standstill GARD:16564 MONDO:equivalentTo Atrial standstill -MONDO:0861356 chondrodysplasia-disorder of sex development syndrome GARD:16565 MONDO:equivalentTo Chondrodysplasia-disorder of sex development syndrome -MONDO:0861357 atrial septal defect-atrioventricular conduction defects syndrome GARD:16566 MONDO:equivalentTo Atrial septal defect-atrioventricular conduction defects syndrome -MONDO:0861358 cooper-jabs syndrome GARD:16567 MONDO:equivalentTo Cooper-Jabs syndrome -MONDO:0861359 autosomal recessive robinow syndrome GARD:16568 MONDO:equivalentTo Autosomal recessive Robinow syndrome -MONDO:0861360 fatal infantile cytochrome c oxidase deficiency GARD:16569 MONDO:equivalentTo Fatal infantile cytochrome C oxidase deficiency -MONDO:0861361 monosomy 13q14 GARD:16570 MONDO:equivalentTo Monosomy 13q14 -MONDO:0861362 distal monosomy 13q GARD:16571 MONDO:equivalentTo Distal monosomy 13q -MONDO:0861363 distal monosomy 15q GARD:16572 MONDO:equivalentTo Distal monosomy 15q -MONDO:0861364 3q13 microdeletion syndrome GARD:16573 MONDO:equivalentTo 3q13 microdeletion syndrome -MONDO:0861365 partial chromosome y deletion GARD:16574 MONDO:equivalentTo Partial chromosome Y deletion -MONDO:0861366 dentin dysplasia GARD:16575 MONDO:equivalentTo Dentin dysplasia -MONDO:0861367 chronic diarrhea with villous atrophy GARD:16576 MONDO:equivalentTo Chronic diarrhea with villous atrophy -MONDO:0861368 arterial dissection-lentiginosis syndrome GARD:16577 MONDO:equivalentTo Arterial dissection-lentiginosis syndrome -MONDO:0861369 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome GARD:16578 MONDO:equivalentTo Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome -MONDO:0861370 renal agenesis, bilateral GARD:16579 MONDO:equivalentTo Renal agenesis, bilateral -MONDO:0861371 diabetic embryopathy GARD:16580 MONDO:equivalentTo Diabetic embryopathy -MONDO:0861372 early myoclonic encephalopathy GARD:16581 MONDO:equivalentTo Early myoclonic encephalopathy -MONDO:0861373 hereditary gingival fibromatosis GARD:16582 MONDO:equivalentTo Hereditary gingival fibromatosis -MONDO:0861374 juvenile hyaline fibromatosis GARD:16583 MONDO:equivalentTo Juvenile hyaline fibromatosis -MONDO:0861375 x-linked intellectual disability-epilepsy syndrome GARD:16584 MONDO:equivalentTo X-linked intellectual disability-epilepsy syndrome -MONDO:0861376 46,xx ovotesticular disorder of sex development GARD:16585 MONDO:equivalentTo 46,XX ovotesticular disorder of sex development -MONDO:0861377 nodular neuronal heterotopia GARD:16586 MONDO:equivalentTo Nodular neuronal heterotopia -MONDO:0861378 idiopathic hypercalciuria GARD:16587 MONDO:equivalentTo Idiopathic hypercalciuria -MONDO:0861379 primary hypergonadotropic hypogonadism-partial alopecia syndrome GARD:16588 MONDO:equivalentTo Primary hypergonadotropic hypogonadism-partial alopecia syndrome -MONDO:0861380 familial isolated hypoparathyroidism due to agenesis of parathyroid gland GARD:16589 MONDO:equivalentTo Familial isolated hypoparathyroidism due to agenesis of parathyroid gland -MONDO:0861381 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome GARD:16590 MONDO:equivalentTo Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome -MONDO:0861382 primary pulmonary hypoplasia GARD:16591 MONDO:equivalentTo Primary pulmonary hypoplasia -MONDO:0861383 congenital short bowel syndrome GARD:16592 MONDO:equivalentTo Congenital short bowel syndrome -MONDO:0861384 absence deformity of leg-cataract syndrome GARD:16593 MONDO:equivalentTo Absence deformity of leg-cataract syndrome -MONDO:0861385 kenny-caffey syndrome GARD:16594 MONDO:equivalentTo Kenny-Caffey syndrome -MONDO:0861386 larsen-like osseous dysplasia-short stature syndrome GARD:16595 MONDO:equivalentTo Larsen-like osseous dysplasia-short stature syndrome -MONDO:0861387 congenital laryngeal web GARD:16596 MONDO:equivalentTo Congenital laryngeal web -MONDO:0861388 laryngeal abductor paralysis-intellectual disability syndrome GARD:16597 MONDO:equivalentTo Laryngeal abductor paralysis-intellectual disability syndrome -MONDO:0861389 macrocephaly-spastic paraplegia-dysmorphism syndrome GARD:16598 MONDO:equivalentTo Macrocephaly-spastic paraplegia-dysmorphism syndrome -MONDO:0861390 congenital macroglossia GARD:16599 MONDO:equivalentTo Congenital macroglossia -MONDO:0861391 schizencephaly GARD:166 MONDO:equivalentTo Schizencephaly -MONDO:0861392 mucocutaneous venous malformations GARD:16600 MONDO:equivalentTo Mucocutaneous venous malformations -MONDO:0861393 megalencephaly GARD:16601 MONDO:equivalentTo Megalencephaly -MONDO:0861394 upper limb defect-eye and ear abnormalities syndrome GARD:16602 MONDO:equivalentTo Upper limb defect-eye and ear abnormalities syndrome -MONDO:0861395 autosomal recessive chorioretinopathy-microcephaly syndrome GARD:16603 MONDO:equivalentTo Autosomal recessive chorioretinopathy-microcephaly syndrome -MONDO:0861396 hypomyelination neuropathy-arthrogryposis syndrome GARD:16604 MONDO:equivalentTo Hypomyelination neuropathy-arthrogryposis syndrome -MONDO:0861397 adult idiopathic neutropenia GARD:16605 MONDO:equivalentTo Adult idiopathic neutropenia -MONDO:0861398 oculo-palato-cerebral syndrome GARD:16606 MONDO:equivalentTo Oculo-palato-cerebral syndrome -MONDO:0861399 oculotrichodysplasia GARD:16607 MONDO:equivalentTo Oculotrichodysplasia -MONDO:0861400 omodysplasia GARD:16608 MONDO:equivalentTo Omodysplasia -MONDO:0861401 familial recurrent peripheral facial palsy GARD:16609 MONDO:equivalentTo Familial recurrent peripheral facial palsy -MONDO:0861402 young-onset parkinson disease GARD:16610 MONDO:equivalentTo Young-onset Parkinson disease -MONDO:0861403 pelvis-shoulder dysplasia GARD:16611 MONDO:equivalentTo Pelvis-shoulder dysplasia -MONDO:0861404 short stature-valvular heart disease-characteristic facies syndrome GARD:16612 MONDO:equivalentTo Short stature-valvular heart disease-characteristic facies syndrome -MONDO:0861405 phosphoenolpyruvate carboxykinase deficiency GARD:16613 MONDO:equivalentTo Phosphoenolpyruvate carboxykinase deficiency -MONDO:0861406 postaxial polydactyly-dental and vertebral anomalies syndrome GARD:16614 MONDO:equivalentTo Postaxial polydactyly-dental and vertebral anomalies syndrome -MONDO:0861407 absent thumb-short stature-immunodeficiency syndrome GARD:16615 MONDO:equivalentTo Absent thumb-short stature-immunodeficiency syndrome -MONDO:0861408 leukocyte adhesion deficiency GARD:16616 MONDO:equivalentTo Leukocyte adhesion deficiency -MONDO:0861409 46,xx disorder of sex development-skeletal anomalies syndrome GARD:16617 MONDO:equivalentTo 46,XX disorder of sex development-skeletal anomalies syndrome -MONDO:0861410 blepharophimosis-intellectual disability syndrome, sbbys type GARD:16618 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, SBBYS type -MONDO:0861411 fixed subaortic stenosis GARD:16619 MONDO:equivalentTo Fixed subaortic stenosis -MONDO:0861412 autosomal dominant robinow syndrome GARD:16620 MONDO:equivalentTo Autosomal dominant Robinow syndrome -MONDO:0861413 alpha-n-acetylgalactosaminidase deficiency GARD:16621 MONDO:equivalentTo Alpha-N-acetylgalactosaminidase deficiency -MONDO:0861414 x-linked spasticity-intellectual disability-epilepsy syndrome GARD:16622 MONDO:equivalentTo X-linked spasticity-intellectual disability-epilepsy syndrome -MONDO:0861415 congenital pulmonary valvar stenosis GARD:16623 MONDO:equivalentTo Congenital pulmonary valvar stenosis -MONDO:0861416 deafness-onychodystrophy syndrome GARD:16624 MONDO:equivalentTo Deafness-onychodystrophy syndrome -MONDO:0861417 idiopathic hypereosinophilic syndrome GARD:16625 MONDO:equivalentTo Idiopathic hypereosinophilic syndrome -MONDO:0861418 non-syndromic metopic craniosynostosis GARD:16626 MONDO:equivalentTo Non-syndromic metopic craniosynostosis -MONDO:0861419 truncus arteriosus GARD:16627 MONDO:equivalentTo Truncus arteriosus -MONDO:0861420 hereditary xanthinuria GARD:16628 MONDO:equivalentTo Hereditary xanthinuria -MONDO:0861421 hereditary central diabetes insipidus GARD:16629 MONDO:equivalentTo Hereditary central diabetes insipidus -MONDO:0861422 neuroectodermal melanolysosomal disease GARD:16630 MONDO:equivalentTo Neuroectodermal melanolysosomal disease -MONDO:0861423 glutamate-cysteine ligase deficiency GARD:16631 MONDO:equivalentTo Glutamate-cysteine ligase deficiency -MONDO:0861424 t-b+ severe combined immunodeficiency due to jak3 deficiency GARD:16632 MONDO:equivalentTo T-B+ severe combined immunodeficiency due to JAK3 deficiency -MONDO:0861425 non-syndromic sagittal craniosynostosis GARD:16633 MONDO:equivalentTo Non-syndromic sagittal craniosynostosis -MONDO:0861426 non-syndromic bicoronal craniosynostosis GARD:16634 MONDO:equivalentTo Non-syndromic bicoronal craniosynostosis -MONDO:0861427 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency GARD:16635 MONDO:equivalentTo Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency -MONDO:0861428 lysosomal acid phosphatase deficiency GARD:16636 MONDO:equivalentTo Lysosomal acid phosphatase deficiency -MONDO:0861429 nanophthalmos GARD:16637 MONDO:equivalentTo Nanophthalmos -MONDO:0861430 aldh18a1-related de barsy syndrome GARD:16638 MONDO:equivalentTo ALDH18A1-related De Barsy syndrome -MONDO:0861431 combined deficiency of factor v and factor viii GARD:16639 MONDO:equivalentTo Combined deficiency of factor V and factor VIII -MONDO:0861432 distal monosomy 1q GARD:16640 MONDO:equivalentTo Distal monosomy 1q -MONDO:0861433 episodic ataxia type 1 GARD:16641 MONDO:equivalentTo Episodic ataxia type 1 -MONDO:0861434 graft versus host disease GARD:16642 MONDO:equivalentTo Graft versus host disease -MONDO:0861435 hereditary myopathy with lactic acidosis due to iscu deficiency GARD:16643 MONDO:equivalentTo Hereditary myopathy with lactic acidosis due to ISCU deficiency -MONDO:0861436 proximal renal tubular acidosis GARD:16644 MONDO:equivalentTo Proximal renal tubular acidosis -MONDO:0861437 congenital cataracts-facial dysmorphism-neuropathy syndrome GARD:16645 MONDO:equivalentTo Congenital cataracts-facial dysmorphism-neuropathy syndrome -MONDO:0861438 lipodystrophy-intellectual disability-deafness syndrome GARD:16646 MONDO:equivalentTo Lipodystrophy-intellectual disability-deafness syndrome -MONDO:0861439 craniolenticulosutural dysplasia GARD:16647 MONDO:equivalentTo Craniolenticulosutural dysplasia -MONDO:0861440 branchiogenic deafness syndrome GARD:16648 MONDO:equivalentTo Branchiogenic deafness syndrome -MONDO:0861441 schöpf-schulz-passarge syndrome GARD:16649 MONDO:equivalentTo Schöpf-Schulz-Passarge syndrome -MONDO:0861442 familial short qt syndrome GARD:16650 MONDO:equivalentTo Familial short QT syndrome -MONDO:0861443 torsade-de-pointes syndrome with short coupling interval GARD:16651 MONDO:equivalentTo Torsade-de-pointes syndrome with short coupling interval -MONDO:0861444 braddock syndrome GARD:16652 MONDO:equivalentTo Braddock syndrome -MONDO:0861445 craniosynostosis-intracranial calcifications syndrome GARD:16653 MONDO:equivalentTo Craniosynostosis-intracranial calcifications syndrome -MONDO:0861446 ulnar/fibula ray defect-brachydactyly syndrome GARD:16654 MONDO:equivalentTo Ulnar/fibula ray defect-brachydactyly syndrome -MONDO:0861447 retinitis punctata albescens GARD:16655 MONDO:equivalentTo Retinitis punctata albescens -MONDO:0861448 paroxysmal dystonic choreathetosis with episodic ataxia and spasticity GARD:16656 MONDO:equivalentTo Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity -MONDO:0861449 congenital cornea plana GARD:16657 MONDO:equivalentTo Congenital cornea plana -MONDO:0861450 arthrogryposis-anterior horn cell disease syndrome GARD:16658 MONDO:equivalentTo Arthrogryposis-anterior horn cell disease syndrome -MONDO:0861451 thrombotic thrombocytopenic purpura GARD:16659 MONDO:equivalentTo Thrombotic thrombocytopenic purpura -MONDO:0861452 hydrocephaly-tall stature-joint laxity syndrome GARD:1666 MONDO:equivalentTo Hydrocephaly-tall stature-joint laxity syndrome -MONDO:0861453 adamantinoma GARD:16660 MONDO:equivalentTo Adamantinoma -MONDO:0861454 schilder disease GARD:16661 MONDO:equivalentTo Schilder disease -MONDO:0861455 enlarged parietal foramina GARD:16662 MONDO:equivalentTo Enlarged parietal foramina -MONDO:0861456 pulmonary nodular lymphoid hyperplasia GARD:16663 MONDO:equivalentTo Pulmonary nodular lymphoid hyperplasia -MONDO:0861457 idiopathic bronchiectasis GARD:16664 MONDO:equivalentTo Idiopathic bronchiectasis -MONDO:0861458 antley-bixler syndrome with genital anomaly and disorder of steroidogenesis GARD:16665 MONDO:equivalentTo Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis -MONDO:0861459 distal myopathy with posterior leg and anterior hand involvement GARD:16666 MONDO:equivalentTo Distal myopathy with posterior leg and anterior hand involvement -MONDO:0861460 childhood absence epilepsy GARD:16667 MONDO:equivalentTo Childhood absence epilepsy -MONDO:0861461 ovarian hyperstimulation syndrome GARD:16668 MONDO:equivalentTo Ovarian hyperstimulation syndrome -MONDO:0861462 beta-ureidopropionase deficiency GARD:16669 MONDO:equivalentTo Beta-ureidopropionase deficiency -MONDO:0861463 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome GARD:16670 MONDO:equivalentTo Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome -MONDO:0861464 isolated focal cortical dysplasia GARD:16671 MONDO:equivalentTo Isolated focal cortical dysplasia -MONDO:0861465 arthrogryposis-severe scoliosis syndrome GARD:16672 MONDO:equivalentTo Arthrogryposis-severe scoliosis syndrome -MONDO:0861466 congenital pseudoarthrosis of the clavicle GARD:16673 MONDO:equivalentTo Congenital pseudoarthrosis of the clavicle -MONDO:0861467 diaphanospondylodysostosis GARD:16674 MONDO:equivalentTo Diaphanospondylodysostosis -MONDO:0861468 hyaluronidase deficiency GARD:16675 MONDO:equivalentTo Hyaluronidase deficiency -MONDO:0861469 thrombocytopenia with congenital dyserythropoietic anemia GARD:16676 MONDO:equivalentTo Thrombocytopenia with congenital dyserythropoietic anemia -MONDO:0861470 x-linked intellectual disability with isolated growth hormone deficiency GARD:16677 MONDO:equivalentTo X-linked intellectual disability with isolated growth hormone deficiency -MONDO:0861471 idiopathic steroid-sensitive nephrotic syndrome GARD:16678 MONDO:equivalentTo Idiopathic steroid-sensitive nephrotic syndrome -MONDO:0861472 odonto-tricho-ungual-digito-palmar syndrome GARD:16679 MONDO:equivalentTo Odonto-tricho-ungual-digito-palmar syndrome -MONDO:0861473 pure hair and nail ectodermal dysplasia GARD:16680 MONDO:equivalentTo Pure hair and nail ectodermal dysplasia -MONDO:0861474 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome GARD:16681 MONDO:equivalentTo Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome -MONDO:0861475 anonychia with flexural pigmentation GARD:16682 MONDO:equivalentTo Anonychia with flexural pigmentation -MONDO:0861476 low phospholipid-associated cholelithiasis GARD:16683 MONDO:equivalentTo Low phospholipid-associated cholelithiasis -MONDO:0861477 bosley-salih-alorainy syndrome GARD:16684 MONDO:equivalentTo Bosley-Salih-Alorainy syndrome -MONDO:0861478 leigh syndrome with cardiomyopathy GARD:16685 MONDO:equivalentTo Leigh syndrome with cardiomyopathy -MONDO:0861479 split hand-split foot-deafness syndrome GARD:16686 MONDO:equivalentTo Split hand-split foot-deafness syndrome -MONDO:0861480 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome GARD:16687 MONDO:equivalentTo Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome -MONDO:0861481 familial thrombocytosis GARD:16688 MONDO:equivalentTo Familial thrombocytosis -MONDO:0861482 obesity due to prohormone convertase i deficiency GARD:16689 MONDO:equivalentTo Obesity due to prohormone convertase I deficiency -MONDO:0861483 dandy-walker malformation-postaxial polydactyly syndrome GARD:1669 MONDO:equivalentTo Dandy-Walker malformation-postaxial polydactyly syndrome -MONDO:0861484 obesity due to melanocortin 4 receptor deficiency GARD:16690 MONDO:equivalentTo Obesity due to melanocortin 4 receptor deficiency -MONDO:0861485 bleeding diathesis due to a collagen receptor defect GARD:16691 MONDO:equivalentTo Bleeding diathesis due to a collagen receptor defect -MONDO:0861486 familial isolated restrictive cardiomyopathy GARD:16692 MONDO:equivalentTo Familial isolated restrictive cardiomyopathy -MONDO:0861487 retinal arterial tortuosity GARD:16693 MONDO:equivalentTo Retinal arterial tortuosity -MONDO:0861488 cystoid macular dystrophy GARD:16694 MONDO:equivalentTo Cystoid macular dystrophy -MONDO:0861489 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency GARD:16695 MONDO:equivalentTo Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency -MONDO:0861490 juvenile polyposis of infancy GARD:16696 MONDO:equivalentTo Juvenile polyposis of infancy -MONDO:0861491 grange syndrome GARD:16697 MONDO:equivalentTo Grange syndrome -MONDO:0861492 eiken syndrome GARD:16698 MONDO:equivalentTo Eiken syndrome -MONDO:0861493 neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome GARD:16699 MONDO:equivalentTo Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome -MONDO:0861494 lymphoid interstitial pneumonia GARD:16700 MONDO:equivalentTo Lymphoid interstitial pneumonia -MONDO:0861495 dend syndrome GARD:16701 MONDO:equivalentTo DEND syndrome -MONDO:0861496 episodic ataxia type 3 GARD:16702 MONDO:equivalentTo Episodic ataxia type 3 -MONDO:0861497 episodic ataxia type 4 GARD:16703 MONDO:equivalentTo Episodic ataxia type 4 -MONDO:0861498 generalized epilepsy-paroxysmal dyskinesia syndrome GARD:16704 MONDO:equivalentTo Generalized epilepsy-paroxysmal dyskinesia syndrome -MONDO:0861499 hereditary painful callosities GARD:16705 MONDO:equivalentTo Hereditary painful callosities -MONDO:0861500 familial progressive hyperpigmentation GARD:16706 MONDO:equivalentTo Familial progressive hyperpigmentation -MONDO:0861501 acrokeratosis verruciformis of hopf GARD:16707 MONDO:equivalentTo Acrokeratosis verruciformis of Hopf -MONDO:0861502 2-aminoadipic 2-oxoadipic aciduria GARD:16708 MONDO:equivalentTo 2-aminoadipic 2-oxoadipic aciduria -MONDO:0861503 seizures-intellectual disability due to hydroxylysinuria syndrome GARD:16709 MONDO:equivalentTo Seizures-intellectual disability due to hydroxylysinuria syndrome -MONDO:0861504 multinodular goiter-cystic kidney-polydactyly syndrome GARD:1671 MONDO:equivalentTo Multinodular goiter-cystic kidney-polydactyly syndrome -MONDO:0861505 hypoxanthine guanine phosphoribosyltransferase partial deficiency GARD:16710 MONDO:equivalentTo Hypoxanthine guanine phosphoribosyltransferase partial deficiency -MONDO:0861506 glycogen storage disease due to liver and muscle phosphorylase kinase deficiency GARD:16711 MONDO:equivalentTo Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency -MONDO:0861507 pyruvate dehydrogenase e2 deficiency GARD:16712 MONDO:equivalentTo Pyruvate dehydrogenase E2 deficiency -MONDO:0861508 congenital bile acid synthesis defect type 3 GARD:16713 MONDO:equivalentTo Congenital bile acid synthesis defect type 3 -MONDO:0861509 vitamin b12-unresponsive methylmalonic acidemia type mut- GARD:16714 MONDO:equivalentTo Vitamin B12-unresponsive methylmalonic acidemia type mut- -MONDO:0861510 chondrodysplasia punctata, tibial-metacarpal type GARD:16715 MONDO:equivalentTo Chondrodysplasia punctata, tibial-metacarpal type -MONDO:0861511 chondrodysplasia punctata, toriello type GARD:16716 MONDO:equivalentTo Chondrodysplasia punctata, Toriello type -MONDO:0861512 3-phosphoserine phosphatase deficiency, infantile/juvenile form GARD:16717 MONDO:equivalentTo 3-phosphoserine phosphatase deficiency, infantile/juvenile form -MONDO:0861513 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form GARD:16718 MONDO:equivalentTo 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form -MONDO:0861514 keratoderma hereditarium mutilans with ichthyosis GARD:16719 MONDO:equivalentTo Keratoderma hereditarium mutilans with ichthyosis -MONDO:0861515 recessive dystrophic epidermolysis bullosa inversa GARD:16720 MONDO:equivalentTo Recessive dystrophic epidermolysis bullosa inversa -MONDO:0861516 oculocutaneous albinism type 1a GARD:16721 MONDO:equivalentTo Oculocutaneous albinism type 1A -MONDO:0861517 oculocutaneous albinism type 4 GARD:16722 MONDO:equivalentTo Oculocutaneous albinism type 4 -MONDO:0861518 maculopapular cutaneous mastocytosis GARD:16723 MONDO:equivalentTo Maculopapular cutaneous mastocytosis -MONDO:0861519 cholesterol-ester transfer protein deficiency GARD:16724 MONDO:equivalentTo Cholesterol-ester transfer protein deficiency -MONDO:0861520 hypotonia-failure to thrive-microcephaly syndrome GARD:16725 MONDO:equivalentTo Hypotonia-failure to thrive-microcephaly syndrome -MONDO:0861521 autosomal recessive hyperinsulinism due to sur1 deficiency GARD:16726 MONDO:equivalentTo Autosomal recessive hyperinsulinism due to SUR1 deficiency -MONDO:0861522 autosomal recessive hyperinsulinism due to kir6.2 deficiency GARD:16727 MONDO:equivalentTo Autosomal recessive hyperinsulinism due to Kir6.2 deficiency -MONDO:0861523 glomuvenous malformation GARD:16728 MONDO:equivalentTo Glomuvenous malformation -MONDO:0861524 enteric anendocrinosis GARD:16729 MONDO:equivalentTo Enteric anendocrinosis -MONDO:0861525 senior-boichis syndrome GARD:16730 MONDO:equivalentTo Senior-Boichis syndrome -MONDO:0861526 hereditary thermosensitive neuropathy GARD:16731 MONDO:equivalentTo Hereditary thermosensitive neuropathy -MONDO:0861527 desmin-related myopathy with mallory body-like inclusions GARD:16732 MONDO:equivalentTo Desmin-related myopathy with Mallory body-like inclusions -MONDO:0861528 palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome GARD:16733 MONDO:equivalentTo Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome -MONDO:0861529 bothnia retinal dystrophy GARD:16734 MONDO:equivalentTo Bothnia retinal dystrophy -MONDO:0861530 familial digital arthropathy-brachydactyly GARD:16735 MONDO:equivalentTo Familial digital arthropathy-brachydactyly -MONDO:0861531 microcephalic osteodysplastic dysplasia, saul-wilson type GARD:16736 MONDO:equivalentTo Microcephalic osteodysplastic dysplasia, Saul-Wilson type -MONDO:0861532 craniometadiaphyseal dysplasia, wormian bone type GARD:16737 MONDO:equivalentTo Craniometadiaphyseal dysplasia, wormian bone type -MONDO:0861533 metaphyseal dysplasia, braun-tinschert type GARD:16738 MONDO:equivalentTo Metaphyseal dysplasia, Braun-Tinschert type -MONDO:0861534 calvarial doughnut lesions-bone fragility syndrome GARD:16739 MONDO:equivalentTo Calvarial doughnut lesions-bone fragility syndrome -MONDO:0861535 spondylo-ocular syndrome GARD:16740 MONDO:equivalentTo Spondylo-ocular syndrome -MONDO:0861536 genochondromatosis type 1 GARD:16741 MONDO:equivalentTo Genochondromatosis type 1 -MONDO:0861537 x-linked intellectual disability, armfield type GARD:16742 MONDO:equivalentTo X-linked intellectual disability, Armfield type -MONDO:0861538 x-linked intellectual disability, cantagrel type GARD:16743 MONDO:equivalentTo X-linked intellectual disability, Cantagrel type -MONDO:0861539 kdm5c-related syndromic x-linked intellectual disability GARD:16744 MONDO:equivalentTo KDM5C-related syndromic X-linked intellectual disability -MONDO:0861540 x-linked intellectual disability-cubitus valgus-dysmorphism syndrome GARD:16745 MONDO:equivalentTo X-linked intellectual disability-cubitus valgus-dysmorphism syndrome -MONDO:0861541 bresek syndrome GARD:16746 MONDO:equivalentTo BRESEK syndrome -MONDO:0861542 x-linked intellectual disability, wilson type GARD:16747 MONDO:equivalentTo X-linked intellectual disability, Wilson type -MONDO:0861543 x-linked epilepsy-learning disabilities-behavior disorders syndrome GARD:16748 MONDO:equivalentTo X-linked epilepsy-learning disabilities-behavior disorders syndrome -MONDO:0861544 hsd10 disease, atypical type GARD:16749 MONDO:equivalentTo HSD10 disease, atypical type -MONDO:0861545 deafness-intellectual disability syndrome, martin-probst type GARD:16750 MONDO:equivalentTo Deafness-intellectual disability syndrome, Martin-Probst type -MONDO:0861546 x-linked intellectual disability, shrimpton type GARD:16751 MONDO:equivalentTo X-linked intellectual disability, Shrimpton type -MONDO:0861547 x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome GARD:16752 MONDO:equivalentTo X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome -MONDO:0861548 fried syndrome GARD:16753 MONDO:equivalentTo Fried syndrome -MONDO:0861549 attrv30m amyloidosis GARD:16754 MONDO:equivalentTo ATTRV30M amyloidosis -MONDO:0861550 attrv122i amyloidosis GARD:16755 MONDO:equivalentTo ATTRV122I amyloidosis -MONDO:0861551 x-linked reticulate pigmentary disorder GARD:16756 MONDO:equivalentTo X-linked reticulate pigmentary disorder -MONDO:0861552 helicoid peripapillary chorioretinal degeneration GARD:16757 MONDO:equivalentTo Helicoid peripapillary chorioretinal degeneration -MONDO:0861553 benign adult familial myoclonic epilepsy GARD:16758 MONDO:equivalentTo Benign adult familial myoclonic epilepsy -MONDO:0861554 aplasia of lacrimal and salivary glands GARD:16759 MONDO:equivalentTo Aplasia of lacrimal and salivary glands -MONDO:0861555 hemolytic anemia due to adenylate kinase deficiency GARD:16760 MONDO:equivalentTo Hemolytic anemia due to adenylate kinase deficiency -MONDO:0861556 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome GARD:16761 MONDO:equivalentTo Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome -MONDO:0861557 atrichia with papular lesions GARD:16762 MONDO:equivalentTo Atrichia with papular lesions -MONDO:0861558 lissencephaly type 3-metacarpal bone dysplasia syndrome GARD:16763 MONDO:equivalentTo Lissencephaly type 3-metacarpal bone dysplasia syndrome -MONDO:0861559 chronic myeloproliferative disease, unclassifiable GARD:16764 MONDO:equivalentTo Chronic myeloproliferative disease, unclassifiable -MONDO:0861560 interdigitating dendritic cell sarcoma GARD:16765 MONDO:equivalentTo Interdigitating dendritic cell sarcoma -MONDO:0861561 keratosis palmaris et plantaris-clinodactyly syndrome GARD:16766 MONDO:equivalentTo Keratosis palmaris et plantaris-clinodactyly syndrome -MONDO:0861562 hereditary palmoplantar keratoderma, gamborg-nielsen type GARD:16767 MONDO:equivalentTo Hereditary palmoplantar keratoderma, Gamborg-Nielsen type -MONDO:0861563 tritanopia GARD:16768 MONDO:equivalentTo Tritanopia -MONDO:0861564 terminal osseous dysplasia-pigmentary defects syndrome GARD:16769 MONDO:equivalentTo Terminal osseous dysplasia-pigmentary defects syndrome -MONDO:0861565 vacuolar myopathy with sarcoplasmic reticulum protein aggregates GARD:16770 MONDO:equivalentTo Vacuolar myopathy with sarcoplasmic reticulum protein aggregates -MONDO:0861566 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome GARD:16771 MONDO:equivalentTo Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome -MONDO:0861567 autosomal dominant progressive nephropathy with hypertension GARD:16772 MONDO:equivalentTo Autosomal dominant progressive nephropathy with hypertension -MONDO:0861568 hepatocellular carcinoma GARD:16773 MONDO:equivalentTo Hepatocellular carcinoma -MONDO:0861569 x-linked alport syndrome GARD:16774 MONDO:equivalentTo X-linked Alport syndrome -MONDO:0861570 pseudohypoaldosteronism type 2a GARD:16775 MONDO:equivalentTo Pseudohypoaldosteronism type 2A -MONDO:0861571 pseudohypoaldosteronism type 2b GARD:16776 MONDO:equivalentTo Pseudohypoaldosteronism type 2B -MONDO:0861572 pseudohypoaldosteronism type 2c GARD:16777 MONDO:equivalentTo Pseudohypoaldosteronism type 2C -MONDO:0861573 autosomal recessive generalized epidermolysis bullosa simplex GARD:16778 MONDO:equivalentTo Autosomal recessive generalized epidermolysis bullosa simplex -MONDO:0861574 dystrophic epidermolysis bullosa pruriginosa GARD:16779 MONDO:equivalentTo Dystrophic epidermolysis bullosa pruriginosa -MONDO:0861575 lissencephaly syndrome, norman-roberts type GARD:16780 MONDO:equivalentTo Lissencephaly syndrome, Norman-Roberts type -MONDO:0861576 autosomal dominant hypophosphatemic rickets GARD:16781 MONDO:equivalentTo Autosomal dominant hypophosphatemic rickets -MONDO:0861577 x-linked cone dysfunction syndrome with myopia GARD:16782 MONDO:equivalentTo X-linked cone dysfunction syndrome with myopia -MONDO:0861578 primary immunodeficiency syndrome due to lamtor2 deficiency GARD:16783 MONDO:equivalentTo Primary immunodeficiency syndrome due to LAMTOR2 deficiency -MONDO:0861579 hemolytic anemia due to glutathione reductase deficiency GARD:16784 MONDO:equivalentTo Hemolytic anemia due to glutathione reductase deficiency -MONDO:0861580 familial pseudohyperkalemia GARD:16785 MONDO:equivalentTo Familial pseudohyperkalemia -MONDO:0861581 charcot-marie-tooth disease-deafness-intellectual disability syndrome GARD:16786 MONDO:equivalentTo Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome -MONDO:0861582 hereditary motor and sensory neuropathy type 6 GARD:16787 MONDO:equivalentTo Hereditary motor and sensory neuropathy type 6 -MONDO:0861583 klippel-trénaunay syndrome GARD:16788 MONDO:equivalentTo Klippel-Trénaunay syndrome -MONDO:0861584 hypotrichosis simplex of the scalp GARD:16789 MONDO:equivalentTo Hypotrichosis simplex of the scalp -MONDO:0861585 x-linked non-syndromic sensorineural deafness type dfn GARD:16790 MONDO:equivalentTo X-linked non-syndromic sensorineural deafness type DFN -MONDO:0861586 autosomal dominant non-syndromic sensorineural deafness type dfna GARD:16791 MONDO:equivalentTo Autosomal dominant non-syndromic sensorineural deafness type DFNA -MONDO:0861587 mitochondrial non-syndromic sensorineural deafness GARD:16792 MONDO:equivalentTo Mitochondrial non-syndromic sensorineural deafness -MONDO:0861588 hypothyroidism due to tsh receptor mutations GARD:16793 MONDO:equivalentTo Hypothyroidism due to TSH receptor mutations -MONDO:0861589 46,xy disorder of sex development due to isolated 17,20-lyase deficiency GARD:16794 MONDO:equivalentTo 46,XY disorder of sex development due to isolated 17,20-lyase deficiency -MONDO:0861590 cardiomyopathy-hypotonia-lactic acidosis syndrome GARD:16795 MONDO:equivalentTo Cardiomyopathy-hypotonia-lactic acidosis syndrome -MONDO:0861591 body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency GARD:16796 MONDO:equivalentTo Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency -MONDO:0861592 isolated cryptophthalmia GARD:16797 MONDO:equivalentTo Isolated cryptophthalmia -MONDO:0861593 congenital ptosis GARD:16798 MONDO:equivalentTo Congenital ptosis -MONDO:0861594 isolated congenital alacrima GARD:16799 MONDO:equivalentTo Isolated congenital alacrima -MONDO:0861595 symbrachydactyly of hands and feet GARD:1680 MONDO:equivalentTo Symbrachydactyly of hands and feet -MONDO:0861596 isolated congenital sclerocornea GARD:16800 MONDO:equivalentTo Isolated congenital sclerocornea -MONDO:0861597 early-onset non-syndromic cataract GARD:16801 MONDO:equivalentTo Early-onset non-syndromic cataract -MONDO:0861598 macular coloboma-cleft palate-hallux valgus syndrome GARD:16802 MONDO:equivalentTo Macular coloboma-cleft palate-hallux valgus syndrome -MONDO:0861599 persistent hyperplastic primary vitreous GARD:16803 MONDO:equivalentTo Persistent hyperplastic primary vitreous -MONDO:0861600 renal agenesis, unilateral GARD:16804 MONDO:equivalentTo Renal agenesis, unilateral -MONDO:0861601 hypocalcemic vitamin d-resistant rickets GARD:16805 MONDO:equivalentTo Hypocalcemic vitamin D-resistant rickets -MONDO:0861602 fragile x-associated tremor/ataxia syndrome GARD:16806 MONDO:equivalentTo Fragile X-associated tremor/ataxia syndrome -MONDO:0861603 pfeiffer syndrome type 1 GARD:16807 MONDO:equivalentTo Pfeiffer syndrome type 1 -MONDO:0861604 pfeiffer syndrome type 2 GARD:16808 MONDO:equivalentTo Pfeiffer syndrome type 2 -MONDO:0861605 pfeiffer syndrome type 3 GARD:16809 MONDO:equivalentTo Pfeiffer syndrome type 3 -MONDO:0861606 crouzon syndrome-acanthosis nigricans syndrome GARD:16810 MONDO:equivalentTo Crouzon syndrome-acanthosis nigricans syndrome -MONDO:0861607 cloverleaf skull-multiple congenital anomalies syndrome GARD:16811 MONDO:equivalentTo Cloverleaf skull-multiple congenital anomalies syndrome -MONDO:0861608 mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis GARD:16812 MONDO:equivalentTo Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis -MONDO:0861609 spondyloepimetaphyseal dysplasia, papss2 type GARD:16813 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, PAPSS2 type -MONDO:0861610 spondyloepiphyseal dysplasia, kimberley type GARD:16814 MONDO:equivalentTo Spondyloepiphyseal dysplasia, Kimberley type -MONDO:0861611 hypochondrogenesis GARD:16815 MONDO:equivalentTo Hypochondrogenesis -MONDO:0861612 brachyolmia, maroteaux type GARD:16816 MONDO:equivalentTo Brachyolmia, Maroteaux type -MONDO:0861613 postaxial polydactyly type a GARD:16817 MONDO:equivalentTo Postaxial polydactyly type A -MONDO:0861614 postaxial polydactyly type b GARD:16818 MONDO:equivalentTo Postaxial polydactyly type B -MONDO:0861615 spondyloepimetaphyseal dysplasia, irapa type GARD:16819 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, Irapa type -MONDO:0861616 genochondromatosis type 2 GARD:16820 MONDO:equivalentTo Genochondromatosis type 2 -MONDO:0861617 brachydactyly-syndactyly, zhao type GARD:16821 MONDO:equivalentTo Brachydactyly-syndactyly, Zhao type -MONDO:0861618 ciliopathies with major skeletal involvement GARD:16822 MONDO:equivalentTo Ciliopathies with major skeletal involvement -MONDO:0861619 atypical hemolytic uremic syndrome with anti-factor h antibodies GARD:16823 MONDO:equivalentTo Atypical hemolytic uremic syndrome with anti-factor H antibodies -MONDO:0861620 late-onset nephronophthisis GARD:16824 MONDO:equivalentTo Late-onset nephronophthisis -MONDO:0861621 infantile nephronophthisis GARD:16825 MONDO:equivalentTo Infantile nephronophthisis -MONDO:0861622 autosomal recessive proximal renal tubular acidosis GARD:16826 MONDO:equivalentTo Autosomal recessive proximal renal tubular acidosis -MONDO:0861623 cystinuria type a GARD:16827 MONDO:equivalentTo Cystinuria type A -MONDO:0861624 cystinuria type b GARD:16828 MONDO:equivalentTo Cystinuria type B -MONDO:0861625 hemoglobin h disease GARD:16829 MONDO:equivalentTo Hemoglobin H disease -MONDO:0861626 lobar holoprosencephaly GARD:16830 MONDO:equivalentTo Lobar holoprosencephaly -MONDO:0861627 alobar holoprosencephaly GARD:16831 MONDO:equivalentTo Alobar holoprosencephaly -MONDO:0861628 midline interhemispheric variant of holoprosencephaly GARD:16832 MONDO:equivalentTo Midline interhemispheric variant of holoprosencephaly -MONDO:0861629 laryngotracheoesophageal cleft type 3 GARD:16833 MONDO:equivalentTo Laryngotracheoesophageal cleft type 3 -MONDO:0861630 x-linked intellectual disability, hedera type GARD:16834 MONDO:equivalentTo X-linked intellectual disability, Hedera type -MONDO:0861631 anotia GARD:16835 MONDO:equivalentTo Anotia -MONDO:0861632 cerebellar ataxia, cayman type GARD:16836 MONDO:equivalentTo Cerebellar ataxia, Cayman type -MONDO:0861633 anonychia congenita totalis GARD:16837 MONDO:equivalentTo Anonychia congenita totalis -MONDO:0861634 lissencephaly due to lis1 mutation GARD:16838 MONDO:equivalentTo Lissencephaly due to LIS1 mutation -MONDO:0861635 familial adrenal hypoplasia with absent pituitary luteinizing hormone GARD:16839 MONDO:equivalentTo Familial adrenal hypoplasia with absent pituitary luteinizing hormone -MONDO:0861636 deafness-ear malformation-facial palsy syndrome GARD:1684 MONDO:equivalentTo Deafness-ear malformation-facial palsy syndrome -MONDO:0861637 non-syndromic posterior hypospadias GARD:16840 MONDO:equivalentTo Non-syndromic posterior hypospadias -MONDO:0861638 thyroid ectopia GARD:16841 MONDO:equivalentTo Thyroid ectopia -MONDO:0861639 athyreosis GARD:16842 MONDO:equivalentTo Athyreosis -MONDO:0861640 familial thyroid dyshormonogenesis GARD:16843 MONDO:equivalentTo Familial thyroid dyshormonogenesis -MONDO:0861641 thyroid hemiagenesis GARD:16844 MONDO:equivalentTo Thyroid hemiagenesis -MONDO:0861642 distal monosomy 6p GARD:16845 MONDO:equivalentTo Distal monosomy 6p -MONDO:0861643 kleefstra syndrome due to 9q34 microdeletion GARD:16846 MONDO:equivalentTo Kleefstra syndrome due to 9q34 microdeletion -MONDO:0861644 monosomy 13q34 GARD:16847 MONDO:equivalentTo Monosomy 13q34 -MONDO:0861645 temple syndrome due to maternal uniparental disomy of chromosome 14 GARD:16848 MONDO:equivalentTo Temple syndrome due to maternal uniparental disomy of chromosome 14 -MONDO:0861646 maternal uniparental disomy of chromosome 20 GARD:16849 MONDO:equivalentTo Maternal uniparental disomy of chromosome 20 -MONDO:0861647 doors syndrome GARD:1685 MONDO:equivalentTo DOORS syndrome -MONDO:0861648 somatotropic adenoma GARD:16850 MONDO:equivalentTo Somatotropic adenoma -MONDO:0861649 leydig cell hypoplasia due to complete lh resistance GARD:16851 MONDO:equivalentTo Leydig cell hypoplasia due to complete LH resistance -MONDO:0861650 leydig cell hypoplasia due to partial lh resistance GARD:16852 MONDO:equivalentTo Leydig cell hypoplasia due to partial LH resistance -MONDO:0861651 familial papillary thyroid carcinoma with renal papillary neoplasia GARD:16853 MONDO:equivalentTo Familial papillary thyroid carcinoma with renal papillary neoplasia -MONDO:0861652 renal tubular dysgenesis of genetic origin GARD:16854 MONDO:equivalentTo Renal tubular dysgenesis of genetic origin -MONDO:0861653 lymphoproliferative disease associated with primary immune disease GARD:16855 MONDO:equivalentTo Lymphoproliferative disease associated with primary immune disease -MONDO:0861654 hereditary combined deficiency of vitamin k-dependent clotting factors GARD:16856 MONDO:equivalentTo Hereditary combined deficiency of vitamin K-dependent clotting factors -MONDO:0861655 developmental defect of the eye GARD:16857 MONDO:equivalentTo Developmental defect of the eye -MONDO:0861656 syndromic orbital border hypoplasia GARD:16858 MONDO:equivalentTo Syndromic orbital border hypoplasia -MONDO:0861657 rare isolated myopia GARD:16859 MONDO:equivalentTo Rare isolated myopia -MONDO:0861658 deafness-craniofacial syndrome GARD:1686 MONDO:equivalentTo Deafness-craniofacial syndrome -MONDO:0861659 autosomal recessive isolated optic atrophy GARD:16860 MONDO:equivalentTo Autosomal recessive isolated optic atrophy -MONDO:0861660 prader-willi syndrome due to maternal uniparental disomy of chromosome 15 GARD:16861 MONDO:equivalentTo Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 -MONDO:0861661 alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 GARD:16862 MONDO:equivalentTo Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 -MONDO:0861662 acute undifferentiated leukemia GARD:16863 MONDO:equivalentTo Acute undifferentiated leukemia -MONDO:0861663 desquamative interstitial pneumonia GARD:16864 MONDO:equivalentTo Desquamative interstitial pneumonia -MONDO:0861664 autosomal dominant emery-dreifuss muscular dystrophy GARD:16865 MONDO:equivalentTo Autosomal dominant Emery-Dreifuss muscular dystrophy -MONDO:0861665 autosomal recessive emery-dreifuss muscular dystrophy GARD:16866 MONDO:equivalentTo Autosomal recessive Emery-Dreifuss muscular dystrophy -MONDO:0861666 southeast asian ovalocytosis GARD:16867 MONDO:equivalentTo Southeast Asian ovalocytosis -MONDO:0861667 bleeding diathesis due to integrin alpha2-beta1 deficiency GARD:16868 MONDO:equivalentTo Bleeding diathesis due to integrin alpha2-beta1 deficiency -MONDO:0861668 congenital myopathy with excess of thin filaments GARD:16869 MONDO:equivalentTo Congenital myopathy with excess of thin filaments -MONDO:0861669 deafness-enamel hypoplasia-nail defects syndrome GARD:1687 MONDO:equivalentTo Deafness-enamel hypoplasia-nail defects syndrome -MONDO:0861670 desminopathy GARD:16870 MONDO:equivalentTo Desminopathy -MONDO:0861671 distal myotilinopathy GARD:16871 MONDO:equivalentTo Distal myotilinopathy -MONDO:0861672 synaptic congenital myasthenic syndromes GARD:16872 MONDO:equivalentTo Synaptic congenital myasthenic syndromes -MONDO:0861673 acute inflammatory demyelinating polyradiculoneuropathy GARD:16873 MONDO:equivalentTo Acute inflammatory demyelinating polyradiculoneuropathy -MONDO:0861674 huntington disease-like 2 GARD:16874 MONDO:equivalentTo Huntington disease-like 2 -MONDO:0861675 coloboma of choroid and retina GARD:16875 MONDO:equivalentTo Coloboma of choroid and retina -MONDO:0861676 complete cryptophthalmia GARD:16876 MONDO:equivalentTo Complete cryptophthalmia -MONDO:0861677 lisch epithelial corneal dystrophy GARD:16877 MONDO:equivalentTo Lisch epithelial corneal dystrophy -MONDO:0861678 subepithelial mucinous corneal dystrophy GARD:16878 MONDO:equivalentTo Subepithelial mucinous corneal dystrophy -MONDO:0861679 fleck corneal dystrophy GARD:16879 MONDO:equivalentTo Fleck corneal dystrophy -MONDO:0861680 deafness-epiphyseal dysplasia-short stature syndrome GARD:1688 MONDO:equivalentTo Deafness-epiphyseal dysplasia-short stature syndrome -MONDO:0861681 posterior amorphous corneal dystrophy GARD:16880 MONDO:equivalentTo Posterior amorphous corneal dystrophy -MONDO:0861682 central cloudy dystrophy of françois GARD:16881 MONDO:equivalentTo Central cloudy dystrophy of François -MONDO:0861683 posterior polymorphous corneal dystrophy GARD:16882 MONDO:equivalentTo Posterior polymorphous corneal dystrophy -MONDO:0861684 juvenile glaucoma GARD:16883 MONDO:equivalentTo Juvenile glaucoma -MONDO:0861685 pulverulent cataract GARD:16884 MONDO:equivalentTo Pulverulent cataract -MONDO:0861686 early-onset sutural cataract GARD:16885 MONDO:equivalentTo Early-onset sutural cataract -MONDO:0861687 coralliform cataract GARD:16886 MONDO:equivalentTo Coralliform cataract -MONDO:0861688 early-onset nuclear cataract GARD:16887 MONDO:equivalentTo Early-onset nuclear cataract -MONDO:0861689 early-onset partial cataract GARD:16888 MONDO:equivalentTo Early-onset partial cataract -MONDO:0861690 early-onset posterior polar cataract GARD:16889 MONDO:equivalentTo Early-onset posterior polar cataract -MONDO:0861691 butterfly-shaped pigment dystrophy GARD:16890 MONDO:equivalentTo Butterfly-shaped pigment dystrophy -MONDO:0861692 reticular dystrophy of the retinal pigment epithelium GARD:16891 MONDO:equivalentTo Reticular dystrophy of the retinal pigment epithelium -MONDO:0861693 discrete fixed membranous subaortic stenosis GARD:16892 MONDO:equivalentTo Discrete fixed membranous subaortic stenosis -MONDO:0861694 complete atrioventricular septal defect with ventricular hypoplasia GARD:16893 MONDO:equivalentTo Complete atrioventricular septal defect with ventricular hypoplasia -MONDO:0861695 complete atrioventricular septal defect-tetralogy of fallot GARD:16894 MONDO:equivalentTo Complete atrioventricular septal defect-tetralogy of Fallot -MONDO:0861696 interventricular septum aneurysm GARD:16895 MONDO:equivalentTo Interventricular septum aneurysm -MONDO:0861697 congenital total pulmonary venous return anomaly GARD:16896 MONDO:equivalentTo Congenital total pulmonary venous return anomaly -MONDO:0861698 6-phosphogluconate dehydrogenase deficiency GARD:16897 MONDO:equivalentTo 6-phosphogluconate dehydrogenase deficiency -MONDO:0861699 lymphedema-posterior choanal atresia syndrome GARD:16898 MONDO:equivalentTo Lymphedema-posterior choanal atresia syndrome -MONDO:0861700 isolated distichiasis GARD:16899 MONDO:equivalentTo Isolated distichiasis -MONDO:0861701 schneckenbecken dysplasia GARD:169 MONDO:equivalentTo Schneckenbecken dysplasia -MONDO:0861702 kandori fleck retina GARD:16900 MONDO:equivalentTo Kandori fleck retina -MONDO:0861703 familial medullary thyroid carcinoma GARD:16901 MONDO:equivalentTo Familial medullary thyroid carcinoma -MONDO:0861704 metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria GARD:16902 MONDO:equivalentTo Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria -MONDO:0861705 fried's tooth and nail syndrome GARD:16903 MONDO:equivalentTo Fried's tooth and nail syndrome -MONDO:0861706 myotonia fluctuans GARD:16904 MONDO:equivalentTo Myotonia fluctuans -MONDO:0861707 myotonia permanens GARD:16905 MONDO:equivalentTo Myotonia permanens -MONDO:0861708 acetazolamide-responsive myotonia GARD:16906 MONDO:equivalentTo Acetazolamide-responsive myotonia -MONDO:0861709 cleft velum GARD:16907 MONDO:equivalentTo Cleft velum -MONDO:0861710 oligodontia GARD:16908 MONDO:equivalentTo Oligodontia -MONDO:0861711 haddad syndrome GARD:16909 MONDO:equivalentTo Haddad syndrome -MONDO:0861712 deafness-hypogonadism syndrome GARD:1691 MONDO:equivalentTo Deafness-hypogonadism syndrome -MONDO:0861713 oculootodental syndrome GARD:16910 MONDO:equivalentTo Oculootodental syndrome -MONDO:0861714 peho-like syndrome GARD:16911 MONDO:equivalentTo PEHO-like syndrome -MONDO:0861715 turcot syndrome with polyposis GARD:16912 MONDO:equivalentTo Turcot syndrome with polyposis -MONDO:0861716 familial gestational hyperthyroidism GARD:16913 MONDO:equivalentTo Familial gestational hyperthyroidism -MONDO:0861717 resistance to thyrotropin-releasing hormone syndrome GARD:16914 MONDO:equivalentTo Resistance to thyrotropin-releasing hormone syndrome -MONDO:0861718 leukocyte adhesion deficiency type iii GARD:16915 MONDO:equivalentTo Leukocyte adhesion deficiency type III -MONDO:0861719 genetic recurrent myoglobinuria GARD:16916 MONDO:equivalentTo Genetic recurrent myoglobinuria -MONDO:0861720 autosomal dominant myoglobinuria GARD:16917 MONDO:equivalentTo Autosomal dominant myoglobinuria -MONDO:0861721 ovarioleukodystrophy GARD:16918 MONDO:equivalentTo Ovarioleukodystrophy -MONDO:0861722 cree leukoencephalopathy GARD:16919 MONDO:equivalentTo Cree leukoencephalopathy -MONDO:0861723 precursor b-cell acute lymphoblastic leukemia GARD:16920 MONDO:equivalentTo Precursor B-cell acute lymphoblastic leukemia -MONDO:0861724 spermatocytic seminoma GARD:16921 MONDO:equivalentTo Spermatocytic seminoma -MONDO:0861725 thymoma GARD:16922 MONDO:equivalentTo Thymoma -MONDO:0861726 familial isolated hyperparathyroidism GARD:16923 MONDO:equivalentTo Familial isolated hyperparathyroidism -MONDO:0861727 pigeon-breeder lung disease GARD:16924 MONDO:equivalentTo Pigeon-breeder lung disease -MONDO:0861728 autosomal dominant charcot-marie-tooth disease type 2a2 GARD:16925 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2A2 -MONDO:0861729 atypical teratoid rhabdoid tumor GARD:16926 MONDO:equivalentTo Atypical teratoid rhabdoid tumor -MONDO:0861730 adenocarcinoma of the esophagus GARD:16927 MONDO:equivalentTo Adenocarcinoma of the esophagus -MONDO:0861731 complex regional pain syndrome type 1 GARD:16928 MONDO:equivalentTo Complex regional pain syndrome type 1 -MONDO:0861732 abeta amyloidosis, dutch type GARD:16929 MONDO:equivalentTo ABeta amyloidosis, Dutch type -MONDO:0861733 acys amyloidosis GARD:16930 MONDO:equivalentTo ACys amyloidosis -MONDO:0861734 hypocalcified amelogenesis imperfecta GARD:16931 MONDO:equivalentTo Hypocalcified amelogenesis imperfecta -MONDO:0861735 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism GARD:16932 MONDO:equivalentTo Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism -MONDO:0861736 hereditary angioedema type 1 GARD:16933 MONDO:equivalentTo Hereditary angioedema type 1 -MONDO:0861737 hereditary angioedema type 2 GARD:16934 MONDO:equivalentTo Hereditary angioedema type 2 -MONDO:0861738 f12-related hereditary angioedema with normal c1inh GARD:16935 MONDO:equivalentTo F12-related hereditary angioedema with normal C1Inh -MONDO:0861739 renin-angiotensin-aldosterone system-blocker-induced angioedema GARD:16936 MONDO:equivalentTo Renin-angiotensin-aldosterone system-blocker-induced angioedema -MONDO:0861740 porphyria due to ala dehydratase deficiency GARD:16937 MONDO:equivalentTo Porphyria due to ALA dehydratase deficiency -MONDO:0861741 bathing suit ichthyosis GARD:16938 MONDO:equivalentTo Bathing suit ichthyosis -MONDO:0861742 autosomal recessive spastic paraplegia type 21 GARD:16939 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 21 -MONDO:0861743 autosomal recessive spastic paraplegia type 27 GARD:16940 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 27 -MONDO:0861744 autosomal recessive spastic paraplegia type 28 GARD:16941 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 28 -MONDO:0861745 autosomal spastic paraplegia type 30 GARD:16942 MONDO:equivalentTo Autosomal spastic paraplegia type 30 -MONDO:0861746 congenital stromal corneal dystrophy GARD:16943 MONDO:equivalentTo Congenital stromal corneal dystrophy -MONDO:0861747 familial isolated congenital asplenia GARD:16944 MONDO:equivalentTo Familial isolated congenital asplenia -MONDO:0861748 congenital sodium diarrhea GARD:16945 MONDO:equivalentTo Congenital sodium diarrhea -MONDO:0861749 tropical pancreatitis GARD:16946 MONDO:equivalentTo Tropical pancreatitis -MONDO:0861750 lung fibrosis-immunodeficiency-46,xx gonadal dysgenesis syndrome GARD:16947 MONDO:equivalentTo Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome -MONDO:0861751 hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome GARD:16948 MONDO:equivalentTo Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome -MONDO:0861752 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 GARD:16949 MONDO:equivalentTo Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 -MONDO:0861753 lowe-kohn-cohen syndrome GARD:1695 MONDO:equivalentTo Lowe-Kohn-Cohen syndrome -MONDO:0861754 hypotonia with lactic acidemia and hyperammonemia GARD:16950 MONDO:equivalentTo Hypotonia with lactic acidemia and hyperammonemia -MONDO:0861755 choanal atresia GARD:16951 MONDO:equivalentTo Choanal atresia -MONDO:0861756 17q11.2 microduplication syndrome GARD:16952 MONDO:equivalentTo 17q11.2 microduplication syndrome -MONDO:0861757 distal hereditary motor neuropathy type 1 GARD:16953 MONDO:equivalentTo Distal hereditary motor neuropathy type 1 -MONDO:0861758 distal hereditary motor neuropathy type 2 GARD:16954 MONDO:equivalentTo Distal hereditary motor neuropathy type 2 -MONDO:0861759 distal hereditary motor neuropathy type 5 GARD:16955 MONDO:equivalentTo Distal hereditary motor neuropathy type 5 -MONDO:0861760 distal spinal muscular atrophy type 3 GARD:16956 MONDO:equivalentTo Distal spinal muscular atrophy type 3 -MONDO:0861761 x-linked distal spinal muscular atrophy type 3 GARD:16957 MONDO:equivalentTo X-linked distal spinal muscular atrophy type 3 -MONDO:0861762 hereditary sensory and autonomic neuropathy type 1b GARD:16958 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 1B -MONDO:0861763 mutilating hereditary sensory neuropathy with spastic paraplegia GARD:16959 MONDO:equivalentTo Mutilating hereditary sensory neuropathy with spastic paraplegia -MONDO:0861764 isolated growth hormone deficiency type ii GARD:1696 MONDO:equivalentTo Isolated growth hormone deficiency type II -MONDO:0861765 distal hereditary motor neuropathy type 7 GARD:16960 MONDO:equivalentTo Distal hereditary motor neuropathy type 7 -MONDO:0861766 primary intraosseous venous malformation GARD:16961 MONDO:equivalentTo Primary intraosseous venous malformation -MONDO:0861767 autosomal dominant slowed nerve conduction velocity GARD:16962 MONDO:equivalentTo Autosomal dominant slowed nerve conduction velocity -MONDO:0861768 brachydactyly type b2 GARD:16963 MONDO:equivalentTo Brachydactyly type B2 -MONDO:0861769 short stature due to primary acid-labile subunit deficiency GARD:16964 MONDO:equivalentTo Short stature due to primary acid-labile subunit deficiency -MONDO:0861770 autosomal dominant macrothrombocytopenia GARD:16965 MONDO:equivalentTo Autosomal dominant macrothrombocytopenia -MONDO:0861771 bilateral microtia-deafness-cleft palate syndrome GARD:16966 MONDO:equivalentTo Bilateral microtia-deafness-cleft palate syndrome -MONDO:0861772 palmoplantar keratoderma, nagashima type GARD:16967 MONDO:equivalentTo Palmoplantar keratoderma, Nagashima type -MONDO:0861773 second branchial cleft anomaly GARD:16968 MONDO:equivalentTo Second branchial cleft anomaly -MONDO:0861774 external auditory canal aplasia/hypoplasia GARD:16969 MONDO:equivalentTo External auditory canal aplasia/hypoplasia -MONDO:0861775 nasal dermoid cyst GARD:16970 MONDO:equivalentTo Nasal dermoid cyst -MONDO:0861776 hemifacial hyperplasia GARD:16971 MONDO:equivalentTo Hemifacial hyperplasia -MONDO:0861777 isolated congenital hypoglossia/aglossia GARD:16972 MONDO:equivalentTo Isolated congenital hypoglossia/aglossia -MONDO:0861778 paramedian nasal cleft GARD:16973 MONDO:equivalentTo Paramedian nasal cleft -MONDO:0861779 tessier number 4 facial cleft GARD:16974 MONDO:equivalentTo Tessier number 4 facial cleft -MONDO:0861780 tessier number 7 facial cleft GARD:16975 MONDO:equivalentTo Tessier number 7 facial cleft -MONDO:0861781 cleft lip and alveolus GARD:16976 MONDO:equivalentTo Cleft lip and alveolus -MONDO:0861782 hereditary hypophosphatemic rickets with hypercalciuria GARD:16977 MONDO:equivalentTo Hereditary hypophosphatemic rickets with hypercalciuria -MONDO:0861783 congenital or early infantile cach syndrome GARD:16978 MONDO:equivalentTo Congenital or early infantile CACH syndrome -MONDO:0861784 late infantile cach syndrome GARD:16979 MONDO:equivalentTo Late infantile CACH syndrome -MONDO:0861785 deafness-oligodontia syndrome GARD:1698 MONDO:equivalentTo Deafness-oligodontia syndrome -MONDO:0861786 juvenile or adult cach syndrome GARD:16980 MONDO:equivalentTo Juvenile or adult CACH syndrome -MONDO:0861787 hereditary mixed polyposis syndrome GARD:16981 MONDO:equivalentTo Hereditary mixed polyposis syndrome -MONDO:0861788 serrated polyposis syndrome GARD:16982 MONDO:equivalentTo Serrated polyposis syndrome -MONDO:0861789 cold-induced sweating syndrome GARD:16983 MONDO:equivalentTo Cold-induced sweating syndrome -MONDO:0861790 craniorhiny GARD:16984 MONDO:equivalentTo Craniorhiny -MONDO:0861791 huntington disease-like 1 GARD:16985 MONDO:equivalentTo Huntington disease-like 1 -MONDO:0861792 huntington disease-like 3 GARD:16986 MONDO:equivalentTo Huntington disease-like 3 -MONDO:0861793 ane syndrome GARD:16987 MONDO:equivalentTo ANE syndrome -MONDO:0861794 oculoauricular syndrome, schorderet type GARD:16988 MONDO:equivalentTo Oculoauricular syndrome, Schorderet type -MONDO:0861795 hereditary progressive mucinous histiocytosis GARD:16989 MONDO:equivalentTo Hereditary progressive mucinous histiocytosis -MONDO:0861796 epidermolysis bullosa simplex with circinate migratory erythema GARD:16990 MONDO:equivalentTo Epidermolysis bullosa simplex with circinate migratory erythema -MONDO:0861797 epidermolysis bullosa simplex with pyloric atresia GARD:16991 MONDO:equivalentTo Epidermolysis bullosa simplex with pyloric atresia -MONDO:0861798 hb bart's hydrops fetalis GARD:16992 MONDO:equivalentTo Hb Bart's hydrops fetalis -MONDO:0861799 spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome GARD:16993 MONDO:equivalentTo Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome -MONDO:0861800 spondyloepiphyseal dysplasia, reardon type GARD:16994 MONDO:equivalentTo Spondyloepiphyseal dysplasia, Reardon type -MONDO:0861801 spondyloepiphyseal dysplasia tarda, kohn type GARD:16995 MONDO:equivalentTo Spondyloepiphyseal dysplasia tarda, Kohn type -MONDO:0861802 spondyloepiphyseal dysplasia, macdermot type GARD:16996 MONDO:equivalentTo Spondyloepiphyseal dysplasia, MacDermot type -MONDO:0861803 cntnap2-related developmental and epileptic encephalopathy GARD:16997 MONDO:equivalentTo CNTNAP2-related developmental and epileptic encephalopathy -MONDO:0861804 hypotonia-cystinuria syndrome GARD:16998 MONDO:equivalentTo Hypotonia-cystinuria syndrome -MONDO:0861805 2p21 microdeletion syndrome GARD:16999 MONDO:equivalentTo 2p21 microdeletion syndrome -MONDO:0861806 arachnoid cyst GARD:17 MONDO:equivalentTo Arachnoid cyst -MONDO:0861807 action myoclonus-renal failure syndrome GARD:17000 MONDO:equivalentTo Action myoclonus-renal failure syndrome -MONDO:0861808 benign familial mesial temporal lobe epilepsy GARD:17001 MONDO:equivalentTo Benign familial mesial temporal lobe epilepsy -MONDO:0861809 rolandic epilepsy-speech dyspraxia syndrome GARD:17002 MONDO:equivalentTo Rolandic epilepsy-speech dyspraxia syndrome -MONDO:0861810 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome GARD:17003 MONDO:equivalentTo Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome -MONDO:0861811 peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disease GARD:17004 MONDO:equivalentTo Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease -MONDO:0861812 x-linked intellectual disability, nascimento type GARD:17005 MONDO:equivalentTo X-linked intellectual disability, Nascimento type -MONDO:0861813 x-linked cerebral-cerebellar-coloboma syndrome GARD:17006 MONDO:equivalentTo X-linked cerebral-cerebellar-coloboma syndrome -MONDO:0861814 x-linked dominant chondrodysplasia, chassaing-lacombe type GARD:17007 MONDO:equivalentTo X-linked dominant chondrodysplasia, Chassaing-Lacombe type -MONDO:0861815 x-linked intellectual disability, van esch type GARD:17008 MONDO:equivalentTo X-linked intellectual disability, Van Esch type -MONDO:0861816 x-linked intellectual disability-craniofacioskeletal syndrome GARD:17009 MONDO:equivalentTo X-linked intellectual disability-craniofacioskeletal syndrome -MONDO:0861817 hyperekplexia-epilepsy syndrome GARD:17010 MONDO:equivalentTo Hyperekplexia-epilepsy syndrome -MONDO:0861818 familial mesial temporal lobe epilepsy with febrile seizures GARD:17011 MONDO:equivalentTo Familial mesial temporal lobe epilepsy with febrile seizures -MONDO:0861819 multiple epiphyseal dysplasia, beighton type GARD:17012 MONDO:equivalentTo Multiple epiphyseal dysplasia, Beighton type -MONDO:0861820 multiple epiphyseal dysplasia, lowry type GARD:17013 MONDO:equivalentTo Multiple epiphyseal dysplasia, Lowry type -MONDO:0861821 multiple epiphyseal dysplasia, al-gazali type GARD:17014 MONDO:equivalentTo Multiple epiphyseal dysplasia, Al-Gazali type -MONDO:0861822 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia GARD:17015 MONDO:equivalentTo Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia -MONDO:0861823 multiple epiphyseal dysplasia, with miniepiphyses GARD:17016 MONDO:equivalentTo Multiple epiphyseal dysplasia, with miniepiphyses -MONDO:0861824 brachydactyly-short stature-retinitis pigmentosa syndrome GARD:17017 MONDO:equivalentTo Brachydactyly-short stature-retinitis pigmentosa syndrome -MONDO:0861825 metaphyseal chondrodysplasia, kaitila type GARD:17018 MONDO:equivalentTo Metaphyseal chondrodysplasia, Kaitila type -MONDO:0861826 von willebrand disease type 1 GARD:17019 MONDO:equivalentTo Von Willebrand disease type 1 -MONDO:0861827 von willebrand disease type 2 GARD:17020 MONDO:equivalentTo Von Willebrand disease type 2 -MONDO:0861828 von willebrand disease type 2a GARD:17021 MONDO:equivalentTo Von Willebrand disease type 2A -MONDO:0861829 von willebrand disease type 2b GARD:17022 MONDO:equivalentTo Von Willebrand disease type 2B -MONDO:0861830 von willebrand disease type 2m GARD:17023 MONDO:equivalentTo Von Willebrand disease type 2M -MONDO:0861831 von willebrand disease type 2n GARD:17024 MONDO:equivalentTo Von Willebrand disease type 2N -MONDO:0861832 von willebrand disease type 3 GARD:17025 MONDO:equivalentTo Von Willebrand disease type 3 -MONDO:0861833 fastkd2-related infantile mitochondrial encephalomyopathy GARD:17026 MONDO:equivalentTo FASTKD2-related infantile mitochondrial encephalomyopathy -MONDO:0861834 isolated osteopoikilosis GARD:17027 MONDO:equivalentTo Isolated osteopoikilosis -MONDO:0861835 hot water reflex epilepsy GARD:17028 MONDO:equivalentTo Hot water reflex epilepsy -MONDO:0861836 reading seizures GARD:17029 MONDO:equivalentTo Reading seizures -MONDO:0861837 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome GARD:17030 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome -MONDO:0861838 congenital neuronal ceroid lipofuscinosis GARD:17031 MONDO:equivalentTo Congenital neuronal ceroid lipofuscinosis -MONDO:0861839 late infantile neuronal ceroid lipofuscinosis GARD:17032 MONDO:equivalentTo Late infantile neuronal ceroid lipofuscinosis -MONDO:0861840 46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency GARD:17033 MONDO:equivalentTo 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency -MONDO:0861841 46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome GARD:17034 MONDO:equivalentTo 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome -MONDO:0861842 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 GARD:17035 MONDO:equivalentTo Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 -MONDO:0861843 hereditary cryohydrocytosis with reduced stomatin GARD:17036 MONDO:equivalentTo Hereditary cryohydrocytosis with reduced stomatin -MONDO:0861844 hereditary north american indian childhood cirrhosis GARD:17037 MONDO:equivalentTo Hereditary North American Indian childhood cirrhosis -MONDO:0861845 congenital enteropathy due to enteropeptidase deficiency GARD:17038 MONDO:equivalentTo Congenital enteropathy due to enteropeptidase deficiency -MONDO:0861846 seborrhea-like dermatitis with psoriasiform elements GARD:17039 MONDO:equivalentTo Seborrhea-like dermatitis with psoriasiform elements -MONDO:0861847 congenital deficiency in alpha-fetoprotein GARD:17040 MONDO:equivalentTo Congenital deficiency in alpha-fetoprotein -MONDO:0861848 autosomal thrombocytopenia with normal platelets GARD:17041 MONDO:equivalentTo Autosomal thrombocytopenia with normal platelets -MONDO:0861849 generalized basaloid follicular hamartoma syndrome GARD:17042 MONDO:equivalentTo Generalized basaloid follicular hamartoma syndrome -MONDO:0861850 myeloid/lymphoid neoplasm associated with fgfr1 rearrangement GARD:17043 MONDO:equivalentTo Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement -MONDO:0861851 clapo syndrome GARD:17044 MONDO:equivalentTo CLAPO syndrome -MONDO:0861852 cernunnos-xlf deficiency GARD:17045 MONDO:equivalentTo Cernunnos-XLF deficiency -MONDO:0861853 combined immunodeficiency due to cd3gamma deficiency GARD:17046 MONDO:equivalentTo Combined immunodeficiency due to CD3gamma deficiency -MONDO:0861854 susceptibility to respiratory infections associated with cd8alpha chain mutation GARD:17047 MONDO:equivalentTo Susceptibility to respiratory infections associated with CD8alpha chain mutation -MONDO:0861855 combined immunodeficiency due to crac channel dysfunction GARD:17048 MONDO:equivalentTo Combined immunodeficiency due to CRAC channel dysfunction -MONDO:0861856 immunodeficiency due to cd25 deficiency GARD:17049 MONDO:equivalentTo Immunodeficiency due to CD25 deficiency -MONDO:0861857 deafness-vitiligo-achalasia syndrome GARD:1705 MONDO:equivalentTo Deafness-vitiligo-achalasia syndrome -MONDO:0861858 immunodeficiency due to a late component of complement deficiency GARD:17050 MONDO:equivalentTo Immunodeficiency due to a late component of complement deficiency -MONDO:0861859 t-b+ severe combined immunodeficiency due to il-7ralpha deficiency GARD:17051 MONDO:equivalentTo T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency -MONDO:0861860 t-b+ severe combined immunodeficiency due to cd45 deficiency GARD:17052 MONDO:equivalentTo T-B+ severe combined immunodeficiency due to CD45 deficiency -MONDO:0861861 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta GARD:17053 MONDO:equivalentTo T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta -MONDO:0861862 primary cd59 deficiency GARD:17054 MONDO:equivalentTo Primary CD59 deficiency -MONDO:0861863 recurrent neisseria infections due to factor d deficiency GARD:17055 MONDO:equivalentTo Recurrent Neisseria infections due to factor D deficiency -MONDO:0861864 severe hemophilia b GARD:17056 MONDO:equivalentTo Severe hemophilia B -MONDO:0861865 moderate hemophilia b GARD:17057 MONDO:equivalentTo Moderate hemophilia B -MONDO:0861866 mild hemophilia b GARD:17058 MONDO:equivalentTo Mild hemophilia B -MONDO:0861867 severe hemophilia a GARD:17059 MONDO:equivalentTo Severe hemophilia A -MONDO:0861868 moderate hemophilia a GARD:17060 MONDO:equivalentTo Moderate hemophilia A -MONDO:0861869 mild hemophilia a GARD:17061 MONDO:equivalentTo Mild hemophilia A -MONDO:0861870 muscle filaminopathy GARD:17062 MONDO:equivalentTo Muscle filaminopathy -MONDO:0861871 x-linked spastic paraplegia type 34 GARD:17063 MONDO:equivalentTo X-linked spastic paraplegia type 34 -MONDO:0861872 autosomal dominant spastic paraplegia type 37 GARD:17064 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 37 -MONDO:0861873 autosomal dominant spastic paraplegia type 38 GARD:17065 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 38 -MONDO:0861874 lissencephaly due to tuba1a mutation GARD:17066 MONDO:equivalentTo Lissencephaly due to TUBA1A mutation -MONDO:0861875 metabolic myopathy due to lactate transporter defect GARD:17067 MONDO:equivalentTo Metabolic myopathy due to lactate transporter defect -MONDO:0861876 short stature-delayed bone age due to thyroid hormone metabolism deficiency GARD:17068 MONDO:equivalentTo Short stature-delayed bone age due to thyroid hormone metabolism deficiency -MONDO:0861877 cutis laxa-marfanoid syndrome GARD:17069 MONDO:equivalentTo Cutis laxa-Marfanoid syndrome -MONDO:0861878 blindness-scoliosis-arachnodactyly syndrome GARD:17070 MONDO:equivalentTo Blindness-scoliosis-arachnodactyly syndrome -MONDO:0861879 polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome GARD:17071 MONDO:equivalentTo Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome -MONDO:0861880 mednik syndrome GARD:17072 MONDO:equivalentTo MEDNIK syndrome -MONDO:0861881 autosomal dominant spastic paraplegia type 42 GARD:17073 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 42 -MONDO:0861882 prader-willi syndrome due to translocation GARD:17074 MONDO:equivalentTo Prader-Willi syndrome due to translocation -MONDO:0861883 prader-willi syndrome due to imprinting mutation GARD:17075 MONDO:equivalentTo Prader-Willi syndrome due to imprinting mutation -MONDO:0861884 bleeding disorder in hemophilia a carriers GARD:17076 MONDO:equivalentTo Bleeding disorder in hemophilia A carriers -MONDO:0861885 bleeding disorder in hemophilia b carriers GARD:17077 MONDO:equivalentTo Bleeding disorder in hemophilia B carriers -MONDO:0861886 moderate multiminicore disease with hand involvement GARD:17078 MONDO:equivalentTo Moderate multiminicore disease with hand involvement -MONDO:0861887 reticulate acropigmentation of kitamura GARD:17079 MONDO:equivalentTo Reticulate acropigmentation of Kitamura -MONDO:0861888 distal myopathy with anterior tibial onset GARD:17080 MONDO:equivalentTo Distal myopathy with anterior tibial onset -MONDO:0861889 x-linked myopathy with postural muscle atrophy GARD:17081 MONDO:equivalentTo X-linked myopathy with postural muscle atrophy -MONDO:0861890 brain calcification, rajab type GARD:17082 MONDO:equivalentTo Brain calcification, Rajab type -MONDO:0861891 obesity due to leptin receptor gene deficiency GARD:17083 MONDO:equivalentTo Obesity due to leptin receptor gene deficiency -MONDO:0861892 hyper-igm syndrome with susceptibility to opportunistic infections GARD:17084 MONDO:equivalentTo Hyper-IgM syndrome with susceptibility to opportunistic infections -MONDO:0861893 hyper-igm syndrome without susceptibility to opportunistic infections GARD:17085 MONDO:equivalentTo Hyper-IgM syndrome without susceptibility to opportunistic infections -MONDO:0861894 recurrent infections associated with rare immunoglobulin isotypes deficiency GARD:17086 MONDO:equivalentTo Recurrent infections associated with rare immunoglobulin isotypes deficiency -MONDO:0861895 neutrophil immunodeficiency syndrome GARD:17087 MONDO:equivalentTo Neutrophil immunodeficiency syndrome -MONDO:0861896 familial isolated hypoparathyroidism due to impaired pth secretion GARD:17088 MONDO:equivalentTo Familial isolated hypoparathyroidism due to impaired PTH secretion -MONDO:0861897 familial angiolipomatosis GARD:17089 MONDO:equivalentTo Familial angiolipomatosis -MONDO:0861898 hereditary hypercarotenemia and vitamin a deficiency GARD:17090 MONDO:equivalentTo Hereditary hypercarotenemia and vitamin A deficiency -MONDO:0861899 isolated cleft lip GARD:17091 MONDO:equivalentTo Isolated cleft lip -MONDO:0861900 cleft lip/palate GARD:17092 MONDO:equivalentTo Cleft lip/palate -MONDO:0861901 familial clubfoot with or without associated lower limb anomalies GARD:17093 MONDO:equivalentTo Familial clubfoot with or without associated lower limb anomalies -MONDO:0861902 endocrine-cerebro-osteodysplasia syndrome GARD:17094 MONDO:equivalentTo Endocrine-cerebro-osteodysplasia syndrome -MONDO:0861903 pancreatic insufficiency-anemia-hyperostosis syndrome GARD:17095 MONDO:equivalentTo Pancreatic insufficiency-anemia-hyperostosis syndrome -MONDO:0861904 muscular dystrophy, selcen type GARD:17096 MONDO:equivalentTo Muscular dystrophy, Selcen type -MONDO:0861905 thiamine-responsive encephalopathy GARD:17097 MONDO:equivalentTo Thiamine-responsive encephalopathy -MONDO:0861906 immunodeficiency with factor i anomaly GARD:17098 MONDO:equivalentTo Immunodeficiency with factor I anomaly -MONDO:0861907 immunodeficiency with factor h anomaly GARD:17099 MONDO:equivalentTo Immunodeficiency with factor H anomaly -MONDO:0861908 gonadoblastoma GARD:17100 MONDO:equivalentTo Gonadoblastoma -MONDO:0861909 autosomal recessive lower motor neuron disease with childhood onset GARD:17101 MONDO:equivalentTo Autosomal recessive lower motor neuron disease with childhood onset -MONDO:0861910 autosomal dominant adult-onset proximal spinal muscular atrophy GARD:17102 MONDO:equivalentTo Autosomal dominant adult-onset proximal spinal muscular atrophy -MONDO:0861911 severe neonatal-onset encephalopathy with microcephaly GARD:17103 MONDO:equivalentTo Severe neonatal-onset encephalopathy with microcephaly -MONDO:0861912 autosomal dominant rhegmatogenous retinal detachment GARD:17104 MONDO:equivalentTo Autosomal dominant rhegmatogenous retinal detachment -MONDO:0861913 extraskeletal myxoid chondrosarcoma GARD:17105 MONDO:equivalentTo Extraskeletal myxoid chondrosarcoma -MONDO:0861914 idiopathic copper-associated cirrhosis GARD:17106 MONDO:equivalentTo Idiopathic copper-associated cirrhosis -MONDO:0861915 episodic ataxia type 6 GARD:17107 MONDO:equivalentTo Episodic ataxia type 6 -MONDO:0861916 episodic ataxia type 7 GARD:17108 MONDO:equivalentTo Episodic ataxia type 7 -MONDO:0861917 inherited congenital spastic tetraplegia GARD:17109 MONDO:equivalentTo Inherited congenital spastic tetraplegia -MONDO:0861918 lethal polymalformative syndrome, boissel type GARD:17110 MONDO:equivalentTo Lethal polymalformative syndrome, Boissel type -MONDO:0861919 congenital lethal myopathy, compton-north type GARD:17111 MONDO:equivalentTo Congenital lethal myopathy, Compton-North type -MONDO:0861920 macrocephaly-intellectual disability-autism syndrome GARD:17112 MONDO:equivalentTo Macrocephaly-intellectual disability-autism syndrome -MONDO:0861921 episodic ataxia type 5 GARD:17113 MONDO:equivalentTo Episodic ataxia type 5 -MONDO:0861922 classic pantothenate kinase-associated neurodegeneration GARD:17114 MONDO:equivalentTo Classic pantothenate kinase-associated neurodegeneration -MONDO:0861923 atypical pantothenate kinase-associated neurodegeneration GARD:17115 MONDO:equivalentTo Atypical pantothenate kinase-associated neurodegeneration -MONDO:0861924 microcephaly-facio-cardio-skeletal syndrome, hadziselimovic type GARD:17116 MONDO:equivalentTo Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type -MONDO:0861925 isolated congenital digital clubbing GARD:17117 MONDO:equivalentTo Isolated congenital digital clubbing -MONDO:0861926 mucopolysaccharidosis type 2, severe form GARD:17118 MONDO:equivalentTo Mucopolysaccharidosis type 2, severe form -MONDO:0861927 mucopolysaccharidosis type 2, attenuated form GARD:17119 MONDO:equivalentTo Mucopolysaccharidosis type 2, attenuated form -MONDO:0861928 rin2 syndrome GARD:17120 MONDO:equivalentTo RIN2 syndrome -MONDO:0861929 17q21.31 microduplication syndrome GARD:17121 MONDO:equivalentTo 17q21.31 microduplication syndrome -MONDO:0861930 17p13.3 microduplication syndrome GARD:17122 MONDO:equivalentTo 17p13.3 microduplication syndrome -MONDO:0861931 progressive polyneuropathy with bilateral striatal necrosis GARD:17123 MONDO:equivalentTo Progressive polyneuropathy with bilateral striatal necrosis -MONDO:0861932 hereditary hypotrichosis with recurrent skin vesicles GARD:17124 MONDO:equivalentTo Hereditary hypotrichosis with recurrent skin vesicles -MONDO:0861933 hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency GARD:17125 MONDO:equivalentTo Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency -MONDO:0861934 neonatal acute respiratory distress due to sp-b deficiency GARD:17126 MONDO:equivalentTo Neonatal acute respiratory distress due to SP-B deficiency -MONDO:0861935 chronic respiratory distress with surfactant metabolism deficiency GARD:17127 MONDO:equivalentTo Chronic respiratory distress with surfactant metabolism deficiency -MONDO:0861936 sensorineural deafness with dilated cardiomyopathy GARD:17128 MONDO:equivalentTo Sensorineural deafness with dilated cardiomyopathy -MONDO:0861937 familial isolated arrhythmogenic right ventricular dysplasia GARD:17129 MONDO:equivalentTo Familial isolated arrhythmogenic right ventricular dysplasia -MONDO:0861938 xeroderma pigmentosum-cockayne syndrome complex GARD:17130 MONDO:equivalentTo Xeroderma pigmentosum-Cockayne syndrome complex -MONDO:0861939 semilobar holoprosencephaly GARD:17131 MONDO:equivalentTo Semilobar holoprosencephaly -MONDO:0861940 bleeding diathesis due to thromboxane synthesis deficiency GARD:17132 MONDO:equivalentTo Bleeding diathesis due to thromboxane synthesis deficiency -MONDO:0861941 laron syndrome with immunodeficiency GARD:17133 MONDO:equivalentTo Laron syndrome with immunodeficiency -MONDO:0861942 rothmund-thomson syndrome type 1 GARD:17134 MONDO:equivalentTo Rothmund-Thomson syndrome type 1 -MONDO:0861943 rothmund-thomson syndrome type 2 GARD:17135 MONDO:equivalentTo Rothmund-Thomson syndrome type 2 -MONDO:0861944 hereditary sclerosing poikiloderma, weary type GARD:17136 MONDO:equivalentTo Hereditary sclerosing poikiloderma, Weary type -MONDO:0861945 hemifacial spasm GARD:17137 MONDO:equivalentTo Hemifacial spasm -MONDO:0861946 fowler vasculopaty GARD:17138 MONDO:equivalentTo Fowler vasculopaty -MONDO:0861947 combined immunodeficiency with faciooculoskeletal anomalies GARD:17139 MONDO:equivalentTo Combined immunodeficiency with faciooculoskeletal anomalies -MONDO:0861948 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies GARD:17140 MONDO:equivalentTo Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies -MONDO:0861949 familial infantile bilateral striatal necrosis GARD:17141 MONDO:equivalentTo Familial infantile bilateral striatal necrosis -MONDO:0861950 hereditary breast cancer GARD:17142 MONDO:equivalentTo Hereditary breast cancer -MONDO:0861951 autosomal recessive optic atrophy, opa7 type GARD:17143 MONDO:equivalentTo Autosomal recessive optic atrophy, OPA7 type -MONDO:0861952 severe combined immunodeficiency due to coro1a deficiency GARD:17144 MONDO:equivalentTo Severe combined immunodeficiency due to CORO1A deficiency -MONDO:0861953 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome GARD:17145 MONDO:equivalentTo Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome -MONDO:0861954 autosomal dominant striatal neurodegeneration GARD:17146 MONDO:equivalentTo Autosomal dominant striatal neurodegeneration -MONDO:0861955 autosomal dominant charcot-marie-tooth disease type 2m GARD:17147 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2M -MONDO:0861956 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome GARD:17148 MONDO:equivalentTo Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome -MONDO:0861957 carnitine palmitoyl transferase ii deficiency, myopathic form GARD:17149 MONDO:equivalentTo Carnitine palmitoyl transferase II deficiency, myopathic form -MONDO:0861958 carnitine palmitoyl transferase ii deficiency, severe infantile form GARD:17150 MONDO:equivalentTo Carnitine palmitoyl transferase II deficiency, severe infantile form -MONDO:0861959 carnitine palmitoyl transferase ii deficiency, neonatal form GARD:17151 MONDO:equivalentTo Carnitine palmitoyl transferase II deficiency, neonatal form -MONDO:0861960 cln8 disease GARD:17152 MONDO:equivalentTo CLN8 disease -MONDO:0861961 charcot-marie-tooth disease type 2b5 GARD:17153 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2B5 -MONDO:0861962 spondylo-megaepiphyseal-metaphyseal dysplasia GARD:17154 MONDO:equivalentTo Spondylo-megaepiphyseal-metaphyseal dysplasia -MONDO:0861963 isolated agammaglobulinemia GARD:17155 MONDO:equivalentTo Isolated agammaglobulinemia -MONDO:0861964 ehlers-danlos/osteogenesis imperfecta syndrome GARD:17156 MONDO:equivalentTo Ehlers-Danlos/osteogenesis imperfecta syndrome -MONDO:0861965 erythema palmare hereditarium GARD:17157 MONDO:equivalentTo Erythema palmare hereditarium -MONDO:0861966 familial generalized lentiginosis GARD:17158 MONDO:equivalentTo Familial generalized lentiginosis -MONDO:0861967 familial rhabdoid tumor GARD:17159 MONDO:equivalentTo Familial rhabdoid tumor -MONDO:0861968 beckwith-wiedemann syndrome due to cdkn1c mutation GARD:17160 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to CDKN1C mutation -MONDO:0861969 familial cerebral saccular aneurysm GARD:17161 MONDO:equivalentTo Familial cerebral saccular aneurysm -MONDO:0861970 beta-thalassemia major GARD:17162 MONDO:equivalentTo Beta-thalassemia major -MONDO:0861971 beta-thalassemia intermedia GARD:17163 MONDO:equivalentTo Beta-thalassemia intermedia -MONDO:0861972 dominant beta-thalassemia GARD:17164 MONDO:equivalentTo Dominant beta-thalassemia -MONDO:0861973 delta-beta-thalassemia GARD:17165 MONDO:equivalentTo Delta-beta-thalassemia -MONDO:0861974 beta-thalassemia-x-linked thrombocytopenia syndrome GARD:17166 MONDO:equivalentTo Beta-thalassemia-X-linked thrombocytopenia syndrome -MONDO:0861975 alpha-thalassemia-myelodysplastic syndrome GARD:17167 MONDO:equivalentTo Alpha-thalassemia-myelodysplastic syndrome -MONDO:0861976 hermansky-pudlak syndrome due to bloc-3 deficiency GARD:17168 MONDO:equivalentTo Hermansky-Pudlak syndrome due to BLOC-3 deficiency -MONDO:0861977 hermansky-pudlak syndrome due to bloc-2 deficiency GARD:17169 MONDO:equivalentTo Hermansky-Pudlak syndrome due to BLOC-2 deficiency -MONDO:0861978 hermansky-pudlak syndrome due to bloc-1 deficiency GARD:17170 MONDO:equivalentTo Hermansky-Pudlak syndrome due to BLOC-1 deficiency -MONDO:0861979 severe x-linked mitochondrial encephalomyopathy GARD:17171 MONDO:equivalentTo Severe X-linked mitochondrial encephalomyopathy -MONDO:0861980 15q11q13 microduplication syndrome GARD:17172 MONDO:equivalentTo 15q11q13 microduplication syndrome -MONDO:0861981 familial hypercholanemia GARD:17173 MONDO:equivalentTo Familial hypercholanemia -MONDO:0861982 combined immunodeficiency due to cd27 deficiency GARD:17174 MONDO:equivalentTo Combined immunodeficiency due to CD27 deficiency -MONDO:0861983 atypical hypotonia-cystinuria syndrome GARD:17175 MONDO:equivalentTo Atypical hypotonia-cystinuria syndrome -MONDO:0861984 chuvash erythrocytosis GARD:17176 MONDO:equivalentTo Chuvash erythrocytosis -MONDO:0861985 familial clubfoot due to 17q23.1q23.2 microduplication GARD:17177 MONDO:equivalentTo Familial clubfoot due to 17q23.1q23.2 microduplication -MONDO:0861986 beckwith-wiedemann syndrome due to nsd1 mutation GARD:17178 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to NSD1 mutation -MONDO:0861987 isolated thyrotropin-releasing hormone deficiency GARD:17179 MONDO:equivalentTo Isolated thyrotropin-releasing hormone deficiency -MONDO:0861988 mammary-digital-nail syndrome GARD:17180 MONDO:equivalentTo Mammary-digital-nail syndrome -MONDO:0861989 4q21 microdeletion syndrome GARD:17181 MONDO:equivalentTo 4q21 microdeletion syndrome -MONDO:0861990 classic progressive supranuclear palsy syndrome GARD:17182 MONDO:equivalentTo Classic progressive supranuclear palsy syndrome -MONDO:0861991 progressive supranuclear palsy-parkinsonism syndrome GARD:17183 MONDO:equivalentTo Progressive supranuclear palsy-parkinsonism syndrome -MONDO:0861992 nijmegen breakage syndrome-like disorder GARD:17184 MONDO:equivalentTo Nijmegen breakage syndrome-like disorder -MONDO:0861993 dimethylglycine dehydrogenase deficiency GARD:17185 MONDO:equivalentTo Dimethylglycine dehydrogenase deficiency -MONDO:0861994 dominant hypophosphatemia with nephrolithiasis or osteoporosis GARD:17186 MONDO:equivalentTo Dominant hypophosphatemia with nephrolithiasis or osteoporosis -MONDO:0861995 progressive cerebello-cerebral atrophy GARD:17187 MONDO:equivalentTo Progressive cerebello-cerebral atrophy -MONDO:0861996 hyperphosphatasia-intellectual disability syndrome GARD:17188 MONDO:equivalentTo Hyperphosphatasia-intellectual disability syndrome -MONDO:0861997 autosomal dominant secondary polycythemia GARD:17189 MONDO:equivalentTo Autosomal dominant secondary polycythemia -MONDO:0861998 primary ciliary dyskinesia-retinitis pigmentosa syndrome GARD:17190 MONDO:equivalentTo Primary ciliary dyskinesia-retinitis pigmentosa syndrome -MONDO:0861999 perinatal lethal hypophosphatasia GARD:17191 MONDO:equivalentTo Perinatal lethal hypophosphatasia -MONDO:0862000 infantile hypophosphatasia GARD:17192 MONDO:equivalentTo Infantile hypophosphatasia -MONDO:0862001 adult hypophosphatasia GARD:17193 MONDO:equivalentTo Adult hypophosphatasia -MONDO:0862002 odontohypophosphatasia GARD:17194 MONDO:equivalentTo Odontohypophosphatasia -MONDO:0862003 müllerian aplasia and hyperandrogenism GARD:17195 MONDO:equivalentTo Müllerian aplasia and hyperandrogenism -MONDO:0862004 juvenile cataract-microcornea-renal glucosuria syndrome GARD:17196 MONDO:equivalentTo Juvenile cataract-microcornea-renal glucosuria syndrome -MONDO:0862005 apc-related attenuated familial adenomatous polyposis GARD:17197 MONDO:equivalentTo APC-related attenuated familial adenomatous polyposis -MONDO:0862006 ectodermal dysplasia-syndactyly syndrome GARD:17198 MONDO:equivalentTo Ectodermal dysplasia-syndactyly syndrome -MONDO:0862007 ectodermal dysplasia-cutaneous syndactyly syndrome GARD:17199 MONDO:equivalentTo Ectodermal dysplasia-cutaneous syndactyly syndrome -MONDO:0862008 macrocephaly-short stature-paraplegia syndrome GARD:172 MONDO:equivalentTo Macrocephaly-short stature-paraplegia syndrome -MONDO:0862009 occult macular dystrophy GARD:17200 MONDO:equivalentTo Occult macular dystrophy -MONDO:0862010 nlrp12-associated hereditary periodic fever syndrome GARD:17201 MONDO:equivalentTo NLRP12-associated hereditary periodic fever syndrome -MONDO:0862011 familial hypodysfibrinogenemia GARD:17202 MONDO:equivalentTo Familial hypodysfibrinogenemia -MONDO:0862012 autosomal recessive stickler syndrome GARD:17203 MONDO:equivalentTo Autosomal recessive Stickler syndrome -MONDO:0862013 satb2-associated syndrome due to a chromosomal rearrangement GARD:17204 MONDO:equivalentTo SATB2-associated syndrome due to a chromosomal rearrangement -MONDO:0862014 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome GARD:17205 MONDO:equivalentTo Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome -MONDO:0862015 autosomal dominant spastic ataxia type 1 GARD:17206 MONDO:equivalentTo Autosomal dominant spastic ataxia type 1 -MONDO:0862016 parietal foramina with clavicular hypoplasia GARD:17207 MONDO:equivalentTo Parietal foramina with clavicular hypoplasia -MONDO:0862017 pigmented paravenous retinochoroidal atrophy GARD:17208 MONDO:equivalentTo Pigmented paravenous retinochoroidal atrophy -MONDO:0862018 ataxia-telangiectasia-like disorder GARD:17209 MONDO:equivalentTo Ataxia-telangiectasia-like disorder -MONDO:0862019 ck syndrome GARD:17210 MONDO:equivalentTo CK syndrome -MONDO:0862020 46,xy partial gonadal dysgenesis GARD:17211 MONDO:equivalentTo 46,XY partial gonadal dysgenesis -MONDO:0862021 distal arthrogryposis type 10 GARD:17212 MONDO:equivalentTo Distal arthrogryposis type 10 -MONDO:0862022 hyperzincemia and hypercalprotectinemia GARD:17213 MONDO:equivalentTo Hyperzincemia and hypercalprotectinemia -MONDO:0862023 medulloblastoma with extensive nodularity GARD:17214 MONDO:equivalentTo Medulloblastoma with extensive nodularity -MONDO:0862024 desmoplastic/nodular medulloblastoma GARD:17215 MONDO:equivalentTo Desmoplastic/nodular medulloblastoma -MONDO:0862025 classic medulloblastoma GARD:17216 MONDO:equivalentTo Classic medulloblastoma -MONDO:0862026 constitutional mismatch repair deficiency syndrome GARD:17217 MONDO:equivalentTo Constitutional mismatch repair deficiency syndrome -MONDO:0862027 distal 7q11.23 microdeletion syndrome GARD:17218 MONDO:equivalentTo Distal 7q11.23 microdeletion syndrome -MONDO:0862028 kagami-ogata syndrome GARD:17219 MONDO:equivalentTo Kagami-Ogata syndrome -MONDO:0862029 erythrokeratoderma ''en cocardes'' GARD:1722 MONDO:equivalentTo Erythrokeratoderma ''en cocardes'' -MONDO:0862030 temple syndrome due to paternal 14q32.2 microdeletion GARD:17220 MONDO:equivalentTo Temple syndrome due to paternal 14q32.2 microdeletion -MONDO:0862031 kagami-ogata syndrome due to maternal 14q32.2 microdeletion GARD:17221 MONDO:equivalentTo Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion -MONDO:0862032 temple syndrome due to paternal 14q32.2 hypomethylation GARD:17222 MONDO:equivalentTo Temple syndrome due to paternal 14q32.2 hypomethylation -MONDO:0862033 kagami-ogata syndrome due to maternal 14q32.2 hypermethylation GARD:17223 MONDO:equivalentTo Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation -MONDO:0862034 complete hydatidiform mole GARD:17224 MONDO:equivalentTo Complete hydatidiform mole -MONDO:0862035 mitochondrial dna depletion syndrome, encephalomyopathic form GARD:17225 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, encephalomyopathic form -MONDO:0862036 lethal infantile mitochondrial myopathy GARD:17226 MONDO:equivalentTo Lethal infantile mitochondrial myopathy -MONDO:0862037 mitochondrial myopathy with reversible cytochrome c oxidase deficiency GARD:17227 MONDO:equivalentTo Mitochondrial myopathy with reversible cytochrome C oxidase deficiency -MONDO:0862038 mitochondrial dna depletion syndrome, myopathic form GARD:17228 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, myopathic form -MONDO:0862039 spinocerebellar ataxia with epilepsy GARD:17229 MONDO:equivalentTo Spinocerebellar ataxia with epilepsy -MONDO:0862040 deafness-encephaloneuropathy-obesity-valvulopathy syndrome GARD:17230 MONDO:equivalentTo Deafness-encephaloneuropathy-obesity-valvulopathy syndrome -MONDO:0862041 renal tubulopathy-encephalopathy-liver failure syndrome GARD:17231 MONDO:equivalentTo Renal tubulopathy-encephalopathy-liver failure syndrome -MONDO:0862042 combined oxidative phosphorylation defect type 2 GARD:17232 MONDO:equivalentTo Combined oxidative phosphorylation defect type 2 -MONDO:0862043 combined oxidative phosphorylation defect type 4 GARD:17233 MONDO:equivalentTo Combined oxidative phosphorylation defect type 4 -MONDO:0862044 combined oxidative phosphorylation defect type 7 GARD:17234 MONDO:equivalentTo Combined oxidative phosphorylation defect type 7 -MONDO:0862045 adult-onset autosomal recessive sideroblastic anemia GARD:17235 MONDO:equivalentTo Adult-onset autosomal recessive sideroblastic anemia -MONDO:0862046 pyruvate dehydrogenase e1-beta deficiency GARD:17236 MONDO:equivalentTo Pyruvate dehydrogenase E1-beta deficiency -MONDO:0862047 pyruvate dehydrogenase e3-binding protein deficiency GARD:17237 MONDO:equivalentTo Pyruvate dehydrogenase E3-binding protein deficiency -MONDO:0862048 leigh syndrome with leukodystrophy GARD:17238 MONDO:equivalentTo Leigh syndrome with leukodystrophy -MONDO:0862049 leigh syndrome with nephrotic syndrome GARD:17239 MONDO:equivalentTo Leigh syndrome with nephrotic syndrome -MONDO:0862050 autosomal recessive sideroblastic anemia GARD:17240 MONDO:equivalentTo Autosomal recessive sideroblastic anemia -MONDO:0862051 14q11.2 microdeletion syndrome GARD:17241 MONDO:equivalentTo 14q11.2 microdeletion syndrome -MONDO:0862052 15q14 microdeletion syndrome GARD:17242 MONDO:equivalentTo 15q14 microdeletion syndrome -MONDO:0862053 16p11.2p12.2 microdeletion syndrome GARD:17243 MONDO:equivalentTo 16p11.2p12.2 microdeletion syndrome -MONDO:0862054 distal 16p11.2 microdeletion syndrome GARD:17244 MONDO:equivalentTo Distal 16p11.2 microdeletion syndrome -MONDO:0862055 distal 22q11.2 microdeletion syndrome GARD:17245 MONDO:equivalentTo Distal 22q11.2 microdeletion syndrome -MONDO:0862056 xp21 deletion syndrome GARD:17246 MONDO:equivalentTo Xp21 deletion syndrome -MONDO:0862057 xq27.3q28 duplication syndrome GARD:17247 MONDO:equivalentTo Xq27.3q28 duplication syndrome -MONDO:0862058 mowat-wilson syndrome due to monosomy 2q22 GARD:17248 MONDO:equivalentTo Mowat-Wilson syndrome due to monosomy 2q22 -MONDO:0862059 mowat-wilson syndrome due to a zeb2 point mutation GARD:17249 MONDO:equivalentTo Mowat-Wilson syndrome due to a ZEB2 point mutation -MONDO:0862060 alagille syndrome due to 20p12 microdeletion GARD:17250 MONDO:equivalentTo Alagille syndrome due to 20p12 microdeletion -MONDO:0862061 alagille syndrome due to a jag1 point mutation GARD:17251 MONDO:equivalentTo Alagille syndrome due to a JAG1 point mutation -MONDO:0862062 alagille syndrome due to a notch2 point mutation GARD:17252 MONDO:equivalentTo Alagille syndrome due to a NOTCH2 point mutation -MONDO:0862063 kleefstra syndrome due to a point mutation GARD:17253 MONDO:equivalentTo Kleefstra syndrome due to a point mutation -MONDO:0862064 glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency GARD:17254 MONDO:equivalentTo Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency -MONDO:0862065 mrcs syndrome GARD:17255 MONDO:equivalentTo MRCS syndrome -MONDO:0862066 hyperinsulinism due to insr deficiency GARD:17256 MONDO:equivalentTo Hyperinsulinism due to INSR deficiency -MONDO:0862067 acute necrotizing encephalopathy of childhood GARD:17257 MONDO:equivalentTo Acute necrotizing encephalopathy of childhood -MONDO:0862068 peeling skin syndrome type a GARD:17258 MONDO:equivalentTo Peeling skin syndrome type A -MONDO:0862069 peeling skin syndrome type b GARD:17259 MONDO:equivalentTo Peeling skin syndrome type B -MONDO:0862070 familial multiple meningioma GARD:17260 MONDO:equivalentTo Familial multiple meningioma -MONDO:0862071 glycogen storage disease due to liver phosphorylase kinase deficiency GARD:17261 MONDO:equivalentTo Glycogen storage disease due to liver phosphorylase kinase deficiency -MONDO:0862072 ras-associated autoimmune leukoproliferative disease GARD:17262 MONDO:equivalentTo RAS-associated autoimmune leukoproliferative disease -MONDO:0862073 classic maple syrup urine disease GARD:17263 MONDO:equivalentTo Classic maple syrup urine disease -MONDO:0862074 intermediate maple syrup urine disease GARD:17264 MONDO:equivalentTo Intermediate maple syrup urine disease -MONDO:0862075 intermittent maple syrup urine disease GARD:17265 MONDO:equivalentTo Intermittent maple syrup urine disease -MONDO:0862076 thiamine-responsive maple syrup urine disease GARD:17266 MONDO:equivalentTo Thiamine-responsive maple syrup urine disease -MONDO:0862077 hereditary thrombocytopenia with normal platelets GARD:17267 MONDO:equivalentTo Hereditary thrombocytopenia with normal platelets -MONDO:0862078 neural tube closure defect GARD:17268 MONDO:equivalentTo Neural tube closure defect -MONDO:0862079 bilateral polymicrogyria GARD:17269 MONDO:equivalentTo Bilateral polymicrogyria -MONDO:0862080 delayed membranous cranial ossification GARD:1727 MONDO:equivalentTo Delayed membranous cranial ossification -MONDO:0862081 isolated focal cortical dysplasia type iia GARD:17270 MONDO:equivalentTo Isolated focal cortical dysplasia type IIa -MONDO:0862082 isolated focal cortical dysplasia type iib GARD:17271 MONDO:equivalentTo Isolated focal cortical dysplasia type IIb -MONDO:0862083 congenital non-communicating hydrocephalus GARD:17272 MONDO:equivalentTo Congenital non-communicating hydrocephalus -MONDO:0862084 frontotemporal dementia with motor neuron disease GARD:17273 MONDO:equivalentTo Frontotemporal dementia with motor neuron disease -MONDO:0862085 benign epithelial tumor of salivary glands GARD:17274 MONDO:equivalentTo Benign epithelial tumor of salivary glands -MONDO:0862086 multiple endocrine neoplasia type 4 GARD:17275 MONDO:equivalentTo Multiple endocrine neoplasia type 4 -MONDO:0862087 spinocerebellar ataxia type 32 GARD:17276 MONDO:equivalentTo Spinocerebellar ataxia type 32 -MONDO:0862088 non-syndromic male infertility due to sperm motility disorder GARD:17277 MONDO:equivalentTo Non-syndromic male infertility due to sperm motility disorder -MONDO:0862089 familial multinodular goiter GARD:17278 MONDO:equivalentTo Familial multinodular goiter -MONDO:0862090 hyperbiliverdinemia GARD:17279 MONDO:equivalentTo Hyperbiliverdinemia -MONDO:0862091 10q22.3q23.3 microdeletion syndrome GARD:17280 MONDO:equivalentTo 10q22.3q23.3 microdeletion syndrome -MONDO:0862092 ogden syndrome GARD:17281 MONDO:equivalentTo Ogden syndrome -MONDO:0862093 lower motor neuron syndrome with late-adult onset GARD:17282 MONDO:equivalentTo Lower motor neuron syndrome with late-adult onset -MONDO:0862094 autosomal dominant hyperinsulinism due to sur1 deficiency GARD:17283 MONDO:equivalentTo Autosomal dominant hyperinsulinism due to SUR1 deficiency -MONDO:0862095 autosomal dominant hyperinsulinism due to kir6.2 deficiency GARD:17284 MONDO:equivalentTo Autosomal dominant hyperinsulinism due to Kir6.2 deficiency -MONDO:0862096 diazoxide-resistant focal hyperinsulinism due to sur1 deficiency GARD:17285 MONDO:equivalentTo Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency -MONDO:0862097 diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency GARD:17286 MONDO:equivalentTo Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency -MONDO:0862098 hereditary neutrophilia GARD:17287 MONDO:equivalentTo Hereditary neutrophilia -MONDO:0862099 severe combined immunodeficiency due to lck deficiency GARD:17288 MONDO:equivalentTo Severe combined immunodeficiency due to LCK deficiency -MONDO:0862100 septopreoptic holoprosencephaly GARD:17289 MONDO:equivalentTo Septopreoptic holoprosencephaly -MONDO:0862101 microform holoprosencephaly GARD:17290 MONDO:equivalentTo Microform holoprosencephaly -MONDO:0862102 pelizaeus-merzbacher disease, connatal form GARD:17291 MONDO:equivalentTo Pelizaeus-Merzbacher disease, connatal form -MONDO:0862103 null syndrome GARD:17292 MONDO:equivalentTo Null syndrome -MONDO:0862104 pelizaeus-merzbacher-like disease due to gjc2 mutation GARD:17293 MONDO:equivalentTo Pelizaeus-Merzbacher-like disease due to GJC2 mutation -MONDO:0862105 pelizaeus-merzbacher-like disease due to hspd1 mutation GARD:17294 MONDO:equivalentTo Pelizaeus-Merzbacher-like disease due to HSPD1 mutation -MONDO:0862106 familial steroid-resistant nephrotic syndrome with sensorineural deafness GARD:17295 MONDO:equivalentTo Familial steroid-resistant nephrotic syndrome with sensorineural deafness -MONDO:0862107 fatal infantile hypertonic myofibrillar myopathy GARD:17296 MONDO:equivalentTo Fatal infantile hypertonic myofibrillar myopathy -MONDO:0862108 hemoglobinopathy toms river GARD:17297 MONDO:equivalentTo Hemoglobinopathy Toms River -MONDO:0862109 familial progressive hyper- and hypopigmentation GARD:17298 MONDO:equivalentTo Familial progressive hyper- and hypopigmentation -MONDO:0862110 occipital pachygyria and polymicrogyria GARD:17299 MONDO:equivalentTo Occipital pachygyria and polymicrogyria -MONDO:0862111 acrodysostosis with multiple hormone resistance GARD:17300 MONDO:equivalentTo Acrodysostosis with multiple hormone resistance -MONDO:0862112 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome GARD:17301 MONDO:equivalentTo Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome -MONDO:0862113 syndromic recessive x-linked ichthyosis GARD:17302 MONDO:equivalentTo Syndromic recessive X-linked ichthyosis -MONDO:0862114 self-improving collodion baby GARD:17303 MONDO:equivalentTo Self-improving collodion baby -MONDO:0862115 annular epidermolytic ichthyosis GARD:17304 MONDO:equivalentTo Annular epidermolytic ichthyosis -MONDO:0862116 congenital reticular ichthyosiform erythroderma GARD:17305 MONDO:equivalentTo Congenital reticular ichthyosiform erythroderma -MONDO:0862117 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome GARD:17306 MONDO:equivalentTo Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome -MONDO:0862118 inherited creutzfeldt-jakob disease GARD:17307 MONDO:equivalentTo Inherited Creutzfeldt-Jakob disease -MONDO:0862119 larsen-like syndrome, b3gat3 type GARD:17308 MONDO:equivalentTo Larsen-like syndrome, B3GAT3 type -MONDO:0862120 craniosynostosis-dental anomalies GARD:17309 MONDO:equivalentTo Craniosynostosis-dental anomalies -MONDO:0862121 8q21.11 microdeletion syndrome GARD:17310 MONDO:equivalentTo 8q21.11 microdeletion syndrome -MONDO:0862122 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion GARD:17311 MONDO:equivalentTo Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion -MONDO:0862123 autosomal recessive cerebellar ataxia-psychomotor delay syndrome GARD:17312 MONDO:equivalentTo Autosomal recessive cerebellar ataxia-psychomotor delay syndrome -MONDO:0862124 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency GARD:17313 MONDO:equivalentTo Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency -MONDO:0862125 adult-onset autosomal recessive cerebellar ataxia GARD:17314 MONDO:equivalentTo Adult-onset autosomal recessive cerebellar ataxia -MONDO:0862126 pontocerebellar hypoplasia type 7 GARD:17315 MONDO:equivalentTo Pontocerebellar hypoplasia type 7 -MONDO:0862127 glycerol kinase deficiency, juvenile form GARD:17316 MONDO:equivalentTo Glycerol kinase deficiency, juvenile form -MONDO:0862128 glycerol kinase deficiency, adult form GARD:17317 MONDO:equivalentTo Glycerol kinase deficiency, adult form -MONDO:0862129 marfan syndrome type 2 GARD:17318 MONDO:equivalentTo Marfan syndrome type 2 -MONDO:0862130 hypocalcemic vitamin d-dependent rickets GARD:17319 MONDO:equivalentTo Hypocalcemic vitamin D-dependent rickets -MONDO:0862131 autosomal recessive hypophosphatemic rickets GARD:17320 MONDO:equivalentTo Autosomal recessive hypophosphatemic rickets -MONDO:0862132 hypermethioninemia encephalopathy due to adenosine kinase deficiency GARD:17321 MONDO:equivalentTo Hypermethioninemia encephalopathy due to adenosine kinase deficiency -MONDO:0862133 developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency GARD:17322 MONDO:equivalentTo Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency -MONDO:0862134 familial vesicoureteral reflux GARD:17323 MONDO:equivalentTo Familial vesicoureteral reflux -MONDO:0862135 early-onset myopathy with fatal cardiomyopathy GARD:17324 MONDO:equivalentTo Early-onset myopathy with fatal cardiomyopathy -MONDO:0862136 myosclerosis GARD:17325 MONDO:equivalentTo Myosclerosis -MONDO:0862137 intellectual disability-alacrima-achalasia syndrome GARD:17326 MONDO:equivalentTo Intellectual disability-alacrima-achalasia syndrome -MONDO:0862138 congenital cataract microcornea with corneal opacity GARD:17327 MONDO:equivalentTo Congenital cataract microcornea with corneal opacity -MONDO:0862139 dysmorphism-conductive hearing loss-heart defect syndrome GARD:17328 MONDO:equivalentTo Dysmorphism-conductive hearing loss-heart defect syndrome -MONDO:0862140 exfoliative ichthyosis GARD:17329 MONDO:equivalentTo Exfoliative ichthyosis -MONDO:0862141 glutathione synthetase deficiency with 5-oxoprolinuria GARD:17330 MONDO:equivalentTo Glutathione synthetase deficiency with 5-oxoprolinuria -MONDO:0862142 glutathione synthetase deficiency without 5-oxoprolinuria GARD:17331 MONDO:equivalentTo Glutathione synthetase deficiency without 5-oxoprolinuria -MONDO:0862143 neonatal glycine encephalopathy GARD:17332 MONDO:equivalentTo Neonatal glycine encephalopathy -MONDO:0862144 infantile glycine encephalopathy GARD:17333 MONDO:equivalentTo Infantile glycine encephalopathy -MONDO:0862145 atypical glycine encephalopathy GARD:17334 MONDO:equivalentTo Atypical glycine encephalopathy -MONDO:0862146 vitamin b12-unresponsive methylmalonic acidemia type mut0 GARD:17335 MONDO:equivalentTo Vitamin B12-unresponsive methylmalonic acidemia type mut0 -MONDO:0862147 familial clubfoot due to 5q31 microdeletion GARD:17336 MONDO:equivalentTo Familial clubfoot due to 5q31 microdeletion -MONDO:0862148 familial clubfoot due to pitx1 point mutation GARD:17337 MONDO:equivalentTo Familial clubfoot due to PITX1 point mutation -MONDO:0862149 epithelial recurrent erosion dystrophy GARD:17338 MONDO:equivalentTo Epithelial recurrent erosion dystrophy -MONDO:0862150 x-linked endothelial corneal dystrophy GARD:17339 MONDO:equivalentTo X-linked endothelial corneal dystrophy -MONDO:0862151 pycr1-related de barsy syndrome GARD:17340 MONDO:equivalentTo PYCR1-related De Barsy syndrome -MONDO:0862152 blepharophimosis-intellectual disability syndrome, mkb type GARD:17341 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, MKB type -MONDO:0862153 blepharophimosis-intellectual disability syndrome, verloes type GARD:17342 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, Verloes type -MONDO:0862154 mitf-related melanoma and renal cell carcinoma predisposition syndrome GARD:17343 MONDO:equivalentTo MITF-related melanoma and renal cell carcinoma predisposition syndrome -MONDO:0862155 congenital dyserythropoietic anemia type iv GARD:17344 MONDO:equivalentTo Congenital dyserythropoietic anemia type IV -MONDO:0862156 familial isolated arrhythmogenic ventricular dysplasia, left dominant form GARD:17345 MONDO:equivalentTo Familial isolated arrhythmogenic ventricular dysplasia, left dominant form -MONDO:0862157 familial isolated arrhythmogenic ventricular dysplasia, biventricular form GARD:17346 MONDO:equivalentTo Familial isolated arrhythmogenic ventricular dysplasia, biventricular form -MONDO:0862158 familial isolated arrhythmogenic ventricular dysplasia, right dominant form GARD:17347 MONDO:equivalentTo Familial isolated arrhythmogenic ventricular dysplasia, right dominant form -MONDO:0862159 lethal occipital encephalocele-skeletal dysplasia syndrome GARD:17348 MONDO:equivalentTo Lethal occipital encephalocele-skeletal dysplasia syndrome -MONDO:0862160 edict syndrome GARD:17349 MONDO:equivalentTo EDICT syndrome -MONDO:0862161 distal xq28 microduplication syndrome GARD:17350 MONDO:equivalentTo Distal Xq28 microduplication syndrome -MONDO:0862162 hypertelorism-preauricular sinus-punctual pits-deafness syndrome GARD:17351 MONDO:equivalentTo Hypertelorism-preauricular sinus-punctual pits-deafness syndrome -MONDO:0862163 hypoinsulinemic hypoglycemia and body hemihypertrophy GARD:17352 MONDO:equivalentTo Hypoinsulinemic hypoglycemia and body hemihypertrophy -MONDO:0862164 deficiency in anterior pituitary function-variable immunodeficiency syndrome GARD:17353 MONDO:equivalentTo Deficiency in anterior pituitary function-variable immunodeficiency syndrome -MONDO:0862165 microcephaly-capillary malformation syndrome GARD:17354 MONDO:equivalentTo Microcephaly-capillary malformation syndrome -MONDO:0862166 neonatal inflammatory skin and bowel disease GARD:17355 MONDO:equivalentTo Neonatal inflammatory skin and bowel disease -MONDO:0862167 renal-hepatic-pancreatic dysplasia GARD:17356 MONDO:equivalentTo Renal-hepatic-pancreatic dysplasia -MONDO:0862168 zygodactyly type 1 GARD:17357 MONDO:equivalentTo Zygodactyly type 1 -MONDO:0862169 synpolydactyly type 1 GARD:17358 MONDO:equivalentTo Synpolydactyly type 1 -MONDO:0862170 synpolydactyly type 2 GARD:17359 MONDO:equivalentTo Synpolydactyly type 2 -MONDO:0862171 synpolydactyly type 3 GARD:17360 MONDO:equivalentTo Synpolydactyly type 3 -MONDO:0862172 kyphoscoliotic ehlers-danlos syndrome due to fkbp22 deficiency GARD:17361 MONDO:equivalentTo Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency -MONDO:0862173 connective tissue disorder due to lysyl hydroxylase-3 deficiency GARD:17362 MONDO:equivalentTo Connective tissue disorder due to lysyl hydroxylase-3 deficiency -MONDO:0862174 transient infantile hypertriglyceridemia and hepatosteatosis GARD:17363 MONDO:equivalentTo Transient infantile hypertriglyceridemia and hepatosteatosis -MONDO:0862175 severe congenital hypochromic anemia with ringed sideroblasts GARD:17364 MONDO:equivalentTo Severe congenital hypochromic anemia with ringed sideroblasts -MONDO:0862176 congenital cataract-hearing loss-severe developmental delay syndrome GARD:17365 MONDO:equivalentTo Congenital cataract-hearing loss-severe developmental delay syndrome -MONDO:0862177 persistent polyclonal b-cell lymphocytosis GARD:17366 MONDO:equivalentTo Persistent polyclonal B-cell lymphocytosis -MONDO:0862178 nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome GARD:17367 MONDO:equivalentTo Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome -MONDO:0862179 autosomal systemic lupus erythematosus GARD:17368 MONDO:equivalentTo Autosomal systemic lupus erythematosus -MONDO:0862180 plcg2-associated antibody deficiency and immune dysregulation GARD:17369 MONDO:equivalentTo PLCG2-associated antibody deficiency and immune dysregulation -MONDO:0862181 x-linked acrogigantism GARD:17370 MONDO:equivalentTo X-linked acrogigantism -MONDO:0862182 progeroid and marfanoid aspect-lipodystrophy syndrome GARD:17371 MONDO:equivalentTo Progeroid and marfanoid aspect-lipodystrophy syndrome -MONDO:0862183 pseudohypoaldosteronism type 2d GARD:17372 MONDO:equivalentTo Pseudohypoaldosteronism type 2D -MONDO:0862184 pseudohypoaldosteronism type 2e GARD:17373 MONDO:equivalentTo Pseudohypoaldosteronism type 2E -MONDO:0862185 autosomal recessive infantile hypercalcemia GARD:17374 MONDO:equivalentTo Autosomal recessive infantile hypercalcemia -MONDO:0862186 polymicrogyria due to tubb2b mutation GARD:17375 MONDO:equivalentTo Polymicrogyria due to TUBB2B mutation -MONDO:0862187 oligodontia-cancer predisposition syndrome GARD:17376 MONDO:equivalentTo Oligodontia-cancer predisposition syndrome -MONDO:0862188 interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome GARD:17377 MONDO:equivalentTo Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome -MONDO:0862189 autosomal recessive spastic paraplegia type 48 GARD:17378 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 48 -MONDO:0862190 congenital hereditary facial paralysis-variable hearing loss syndrome GARD:17379 MONDO:equivalentTo Congenital hereditary facial paralysis-variable hearing loss syndrome -MONDO:0862191 porencephaly-microcephaly-bilateral congenital cataract syndrome GARD:17380 MONDO:equivalentTo Porencephaly-microcephaly-bilateral congenital cataract syndrome -MONDO:0862192 primary microcephaly-epilepsy-permanent neonatal diabetes syndrome GARD:17381 MONDO:equivalentTo Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome -MONDO:0862193 sodium channelopathy-related small fiber neuropathy GARD:17382 MONDO:equivalentTo Sodium channelopathy-related small fiber neuropathy -MONDO:0862194 primary dystonia, dyt21 type GARD:17383 MONDO:equivalentTo Primary dystonia, DYT21 type -MONDO:0862195 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome GARD:17384 MONDO:equivalentTo Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome -MONDO:0862196 methylcobalamin deficiency type cbldv1 GARD:17385 MONDO:equivalentTo Methylcobalamin deficiency type cblDv1 -MONDO:0862197 sulfite oxidase deficiency due to molybdenum cofactor deficiency type a GARD:17386 MONDO:equivalentTo Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A -MONDO:0862198 sulfite oxidase deficiency due to molybdenum cofactor deficiency type b GARD:17387 MONDO:equivalentTo Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B -MONDO:0862199 sulfite oxidase deficiency due to molybdenum cofactor deficiency type c GARD:17388 MONDO:equivalentTo Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C -MONDO:0862200 autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency GARD:17389 MONDO:equivalentTo Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency -MONDO:0862201 methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency GARD:17390 MONDO:equivalentTo Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency -MONDO:0862202 vitamin b12-responsive methylmalonic acidemia, type cbldv2 GARD:17391 MONDO:equivalentTo Vitamin B12-responsive methylmalonic acidemia, type cblDv2 -MONDO:0862203 erythrocyte galactose epimerase deficiency GARD:17392 MONDO:equivalentTo Erythrocyte galactose epimerase deficiency -MONDO:0862204 generalized galactose epimerase deficiency GARD:17393 MONDO:equivalentTo Generalized galactose epimerase deficiency -MONDO:0862205 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form GARD:17394 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form -MONDO:0862206 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form GARD:17395 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form -MONDO:0862207 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form GARD:17396 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form -MONDO:0862208 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form GARD:17397 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form -MONDO:0862209 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form GARD:17398 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form -MONDO:0862210 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form GARD:17399 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form -MONDO:0862211 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form GARD:17400 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form -MONDO:0862212 pancreatic triacylglycerol lipase deficiency GARD:17401 MONDO:equivalentTo Pancreatic triacylglycerol lipase deficiency -MONDO:0862213 pancreatic colipase deficiency GARD:17402 MONDO:equivalentTo Pancreatic colipase deficiency -MONDO:0862214 combined pancreatic lipase-colipase deficiency GARD:17403 MONDO:equivalentTo Combined pancreatic lipase-colipase deficiency -MONDO:0862215 sandhoff disease, juvenile form GARD:17404 MONDO:equivalentTo Sandhoff disease, juvenile form -MONDO:0862216 sandhoff disease, adult form GARD:17405 MONDO:equivalentTo Sandhoff disease, adult form -MONDO:0862217 gm2 gangliosidosis, ab variant GARD:17406 MONDO:equivalentTo GM2 gangliosidosis, AB variant -MONDO:0862218 alpha-mannosidosis, infantile form GARD:17407 MONDO:equivalentTo Alpha-mannosidosis, infantile form -MONDO:0862219 alpha-mannosidosis, adult form GARD:17408 MONDO:equivalentTo Alpha-mannosidosis, adult form -MONDO:0862220 early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome GARD:17409 MONDO:equivalentTo Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome -MONDO:0862221 jawad syndrome GARD:17410 MONDO:equivalentTo Jawad syndrome -MONDO:0862222 retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome GARD:17411 MONDO:equivalentTo Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome -MONDO:0862223 coats plus syndrome GARD:17412 MONDO:equivalentTo Coats plus syndrome -MONDO:0862224 familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome GARD:17413 MONDO:equivalentTo Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome -MONDO:0862225 12p12.1 microdeletion syndrome GARD:17414 MONDO:equivalentTo 12p12.1 microdeletion syndrome -MONDO:0862226 developmental and speech delay due to sox5 deficiency GARD:17415 MONDO:equivalentTo Developmental and speech delay due to SOX5 deficiency -MONDO:0862227 gastric adenocarcinoma and proximal polyposis of the stomach GARD:17416 MONDO:equivalentTo Gastric adenocarcinoma and proximal polyposis of the stomach -MONDO:0862228 chronic infantile diarrhea due to guanylate cyclase 2c overactivity GARD:17417 MONDO:equivalentTo Chronic infantile diarrhea due to guanylate cyclase 2C overactivity -MONDO:0862229 intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency GARD:17418 MONDO:equivalentTo Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency -MONDO:0862230 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome GARD:17419 MONDO:equivalentTo Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome -MONDO:0862231 autosomal dominant aplasia and myelodysplasia GARD:17420 MONDO:equivalentTo Autosomal dominant aplasia and myelodysplasia -MONDO:0862232 young adult-onset distal hereditary motor neuropathy GARD:17421 MONDO:equivalentTo Young adult-onset distal hereditary motor neuropathy -MONDO:0862233 facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome GARD:17422 MONDO:equivalentTo Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome -MONDO:0862234 15q overgrowth syndrome GARD:17423 MONDO:equivalentTo 15q overgrowth syndrome -MONDO:0862235 distal tetrasomy 15q GARD:17424 MONDO:equivalentTo Distal tetrasomy 15q -MONDO:0862236 autosomal recessive spastic ataxia with leukoencephalopathy GARD:17425 MONDO:equivalentTo Autosomal recessive spastic ataxia with leukoencephalopathy -MONDO:0862237 cln11 disease GARD:17426 MONDO:equivalentTo CLN11 disease -MONDO:0862238 atp13a2-related juvenile neuronal ceroid lipofuscinosis GARD:17427 MONDO:equivalentTo ATP13A2-related juvenile neuronal ceroid lipofuscinosis -MONDO:0862239 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency GARD:17428 MONDO:equivalentTo Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency -MONDO:0862240 non-progressive cerebellar ataxia with intellectual disability GARD:17429 MONDO:equivalentTo Non-progressive cerebellar ataxia with intellectual disability -MONDO:0862241 combined immunodeficiency due to stk4 deficiency GARD:17430 MONDO:equivalentTo Combined immunodeficiency due to STK4 deficiency -MONDO:0862242 primary systemic amyloidosis GARD:17431 MONDO:equivalentTo Primary systemic amyloidosis -MONDO:0862243 lethal arteriopathy syndrome due to fibulin-4 deficiency GARD:17432 MONDO:equivalentTo Lethal arteriopathy syndrome due to fibulin-4 deficiency -MONDO:0862244 atypical dentin dysplasia due to smoc2 deficiency GARD:17433 MONDO:equivalentTo Atypical dentin dysplasia due to SMOC2 deficiency -MONDO:0862245 shox-related short stature GARD:17434 MONDO:equivalentTo SHOX-related short stature -MONDO:0862246 short stature due to partial ghr deficiency GARD:17435 MONDO:equivalentTo Short stature due to partial GHR deficiency -MONDO:0862247 short stature due to ghsr deficiency GARD:17436 MONDO:equivalentTo Short stature due to GHSR deficiency -MONDO:0862248 severe canavan disease GARD:17437 MONDO:equivalentTo Severe Canavan disease -MONDO:0862249 mild canavan disease GARD:17438 MONDO:equivalentTo Mild Canavan disease -MONDO:0862250 x-linked non progressive cerebellar ataxia GARD:17439 MONDO:equivalentTo X-linked non progressive cerebellar ataxia -MONDO:0862251 cataract-congenital heart disease-neural tube defect syndrome GARD:17440 MONDO:equivalentTo Cataract-congenital heart disease-neural tube defect syndrome -MONDO:0862252 severe combined immunodeficiency due to dna-pkcs deficiency GARD:17441 MONDO:equivalentTo Severe combined immunodeficiency due to DNA-PKcs deficiency -MONDO:0862253 pancytopenia due to ikzf1 mutations GARD:17442 MONDO:equivalentTo Pancytopenia due to IKZF1 mutations -MONDO:0862254 congenital myopathy with internal nuclei and atypical cores GARD:17443 MONDO:equivalentTo Congenital myopathy with internal nuclei and atypical cores -MONDO:0862255 familial cortical myoclonus GARD:17444 MONDO:equivalentTo Familial cortical myoclonus -MONDO:0862256 autosomal recessive spastic paraplegia type 53 GARD:17445 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 53 -MONDO:0862257 mit family translocation renal cell carcinoma GARD:17446 MONDO:equivalentTo MiT family translocation renal cell carcinoma -MONDO:0862258 autosomal recessive myogenic arthrogryposis multiplex congenita GARD:17447 MONDO:equivalentTo Autosomal recessive myogenic arthrogryposis multiplex congenita -MONDO:0862259 carney complex-trismus-pseudocamptodactyly syndrome GARD:17448 MONDO:equivalentTo Carney complex-trismus-pseudocamptodactyly syndrome -MONDO:0862260 inherited cancer-predisposing syndrome due to biallelic brca2 mutations GARD:17449 MONDO:equivalentTo Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations -MONDO:0862261 inherited acute myeloid leukemia GARD:17450 MONDO:equivalentTo Inherited acute myeloid leukemia -MONDO:0862262 acute myeloid leukemia with cebpa somatic mutations GARD:17451 MONDO:equivalentTo Acute myeloid leukemia with CEBPA somatic mutations -MONDO:0862263 combined oxidative phosphorylation defect type 8 GARD:17452 MONDO:equivalentTo Combined oxidative phosphorylation defect type 8 -MONDO:0862264 combined oxidative phosphorylation defect type 9 GARD:17453 MONDO:equivalentTo Combined oxidative phosphorylation defect type 9 -MONDO:0862265 combined oxidative phosphorylation defect type 13 GARD:17454 MONDO:equivalentTo Combined oxidative phosphorylation defect type 13 -MONDO:0862266 combined oxidative phosphorylation defect type 14 GARD:17455 MONDO:equivalentTo Combined oxidative phosphorylation defect type 14 -MONDO:0862267 combined oxidative phosphorylation defect type 15 GARD:17456 MONDO:equivalentTo Combined oxidative phosphorylation defect type 15 -MONDO:0862268 mendelian susceptibility to mycobacterial diseases due to complete ifngammar2 deficiency GARD:17457 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency -MONDO:0862269 mendelian susceptibility to mycobacterial diseases due to complete isg15 deficiency GARD:17458 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency -MONDO:0862270 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency GARD:17459 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency -MONDO:0862271 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency GARD:17460 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency -MONDO:0862272 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency GARD:17461 MONDO:equivalentTo Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency -MONDO:0862273 mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency GARD:17462 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency -MONDO:0862274 mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency GARD:17463 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency -MONDO:0862275 x-linked mendelian susceptibility to mycobacterial diseases GARD:17464 MONDO:equivalentTo X-linked mendelian susceptibility to mycobacterial diseases -MONDO:0862276 x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency GARD:17465 MONDO:equivalentTo X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency -MONDO:0862277 amyloidosis cutis dyschromia GARD:17466 MONDO:equivalentTo Amyloidosis cutis dyschromia -MONDO:0862278 retinal macular dystrophy type 2 GARD:17467 MONDO:equivalentTo Retinal macular dystrophy type 2 -MONDO:0862279 alazami syndrome GARD:17468 MONDO:equivalentTo Alazami syndrome -MONDO:0862280 microcephalic primordial dwarfism, dauber type GARD:17469 MONDO:equivalentTo Microcephalic primordial dwarfism, Dauber type -MONDO:0862281 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome GARD:17470 MONDO:equivalentTo Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome -MONDO:0862282 autosomal dominant spastic paraplegia type 41 GARD:17471 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 41 -MONDO:0862283 autosomal dominant spastic paraplegia type 36 GARD:17472 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 36 -MONDO:0862284 autosomal recessive spastic paraplegia type 43 GARD:17473 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 43 -MONDO:0862285 autosomal recessive spastic paraplegia type 55 GARD:17474 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 55 -MONDO:0862286 autosomal recessive spastic paraplegia type 54 GARD:17475 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 54 -MONDO:0862287 autosomal recessive spastic paraplegia type 46 GARD:17476 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 46 -MONDO:0862288 autosomal recessive spastic paraplegia type 45 GARD:17477 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 45 -MONDO:0862289 autosomal recessive spastic paraplegia type 44 GARD:17478 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 44 -MONDO:0862290 spastic paraplegia-optic atrophy-neuropathy syndrome GARD:17479 MONDO:equivalentTo Spastic paraplegia-optic atrophy-neuropathy syndrome -MONDO:0862291 autosomal recessive spastic paraplegia type 56 GARD:17480 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 56 -MONDO:0862292 autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency GARD:17481 MONDO:equivalentTo Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency -MONDO:0862293 early-onset lafora body disease GARD:17482 MONDO:equivalentTo Early-onset Lafora body disease -MONDO:0862294 t-cell immunodeficiency with epidermodysplasia verruciformis GARD:17483 MONDO:equivalentTo T-cell immunodeficiency with epidermodysplasia verruciformis -MONDO:0862295 sinoatrial node dysfunction and deafness GARD:17484 MONDO:equivalentTo Sinoatrial node dysfunction and deafness -MONDO:0862296 x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome GARD:17485 MONDO:equivalentTo X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome -MONDO:0862297 autoinflammation-plcg2-associated antibody deficiency-immune dysregulation GARD:17486 MONDO:equivalentTo Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation -MONDO:0862298 combined oxidative phosphorylation defect type 11 GARD:17487 MONDO:equivalentTo Combined oxidative phosphorylation defect type 11 -MONDO:0862299 pontocerebellar hypoplasia type 8 GARD:17488 MONDO:equivalentTo Pontocerebellar hypoplasia type 8 -MONDO:0862300 abetal34v amyloidosis GARD:17489 MONDO:equivalentTo ABetaL34V amyloidosis -MONDO:0862301 abeta amyloidosis, iowa type GARD:17490 MONDO:equivalentTo ABeta amyloidosis, Iowa type -MONDO:0862302 abeta amyloidosis, italian type GARD:17491 MONDO:equivalentTo ABeta amyloidosis, Italian type -MONDO:0862303 abetaa21g amyloidosis GARD:17492 MONDO:equivalentTo ABetaA21G amyloidosis -MONDO:0862304 abeta amyloidosis, arctic type GARD:17493 MONDO:equivalentTo ABeta amyloidosis, Arctic type -MONDO:0862305 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis GARD:17494 MONDO:equivalentTo Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis -MONDO:0862306 tall stature-long halluces-multiple extra-epiphyses syndrome GARD:17495 MONDO:equivalentTo Tall stature-long halluces-multiple extra-epiphyses syndrome -MONDO:0862307 developmental delay with autism spectrum disorder and gait instability GARD:17496 MONDO:equivalentTo Developmental delay with autism spectrum disorder and gait instability -MONDO:0862308 autosomal dominant neovascular inflammatory vitreoretinopathy GARD:17497 MONDO:equivalentTo Autosomal dominant neovascular inflammatory vitreoretinopathy -MONDO:0862309 microcephalic primordial dwarfism due to znf335 deficiency GARD:17498 MONDO:equivalentTo Microcephalic primordial dwarfism due to ZNF335 deficiency -MONDO:0862310 x-linked central congenital hypothyroidism with late-onset testicular enlargement GARD:17499 MONDO:equivalentTo X-linked central congenital hypothyroidism with late-onset testicular enlargement -MONDO:0862311 free sialic acid storage disease, infantile form GARD:175 MONDO:equivalentTo Free sialic acid storage disease, infantile form -MONDO:0862312 congenital chronic diarrhea with protein-losing enteropathy GARD:17500 MONDO:equivalentTo Congenital chronic diarrhea with protein-losing enteropathy -MONDO:0862313 adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency GARD:17501 MONDO:equivalentTo Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency -MONDO:0862314 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome GARD:17502 MONDO:equivalentTo Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome -MONDO:0862315 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy GARD:17503 MONDO:equivalentTo Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy -MONDO:0862316 lipoprotein glomerulopathy GARD:17504 MONDO:equivalentTo Lipoprotein glomerulopathy -MONDO:0862317 5p13 microduplication syndrome GARD:17505 MONDO:equivalentTo 5p13 microduplication syndrome -MONDO:0862318 immunoglobulin-mediated membranoproliferative glomerulonephritis GARD:17506 MONDO:equivalentTo Immunoglobulin-mediated membranoproliferative glomerulonephritis -MONDO:0862319 c3 glomerulopathy GARD:17507 MONDO:equivalentTo C3 glomerulopathy -MONDO:0862320 generalized juvenile polyposis/juvenile polyposis coli GARD:17508 MONDO:equivalentTo Generalized juvenile polyposis/juvenile polyposis coli -MONDO:0862321 dnm1l-related encephalopathy due to mitochondrial and peroxisomal fission defect GARD:17509 MONDO:equivalentTo DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect -MONDO:0862322 actinic prurigo GARD:17510 MONDO:equivalentTo Actinic prurigo -MONDO:0862323 autosomal recessive severe congenital neutropenia due to g6pc3 deficiency GARD:17511 MONDO:equivalentTo Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency -MONDO:0862324 immunodeficiency due to masp-2 deficiency GARD:17512 MONDO:equivalentTo Immunodeficiency due to MASP-2 deficiency -MONDO:0862325 immunodeficiency due to ficolin3 deficiency GARD:17513 MONDO:equivalentTo Immunodeficiency due to ficolin3 deficiency -MONDO:0862326 susceptibility to infection due to tyk2 deficiency GARD:17514 MONDO:equivalentTo Susceptibility to infection due to TYK2 deficiency -MONDO:0862327 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome GARD:17515 MONDO:equivalentTo Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome -MONDO:0862328 spectrin-associated autosomal recessive cerebellar ataxia GARD:17516 MONDO:equivalentTo Spectrin-associated autosomal recessive cerebellar ataxia -MONDO:0862329 progressive external ophthalmoplegia-myopathy-emaciation syndrome GARD:17517 MONDO:equivalentTo Progressive external ophthalmoplegia-myopathy-emaciation syndrome -MONDO:0862330 dna2-related mitochondrial dna deletion syndrome GARD:17518 MONDO:equivalentTo DNA2-related mitochondrial DNA deletion syndrome -MONDO:0862331 ispd-related limb-girdle muscular dystrophy r20 GARD:17519 MONDO:equivalentTo ISPD-related limb-girdle muscular dystrophy R20 -MONDO:0862332 autism spectrum disorder due to auts2 deficiency GARD:17520 MONDO:equivalentTo Autism spectrum disorder due to AUTS2 deficiency -MONDO:0862333 familial infantile myoclonic epilepsy GARD:17521 MONDO:equivalentTo Familial infantile myoclonic epilepsy -MONDO:0862334 progressive myoclonic epilepsy with dystonia GARD:17522 MONDO:equivalentTo Progressive myoclonic epilepsy with dystonia -MONDO:0862335 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome GARD:17523 MONDO:equivalentTo Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome -MONDO:0862336 hereditary benign intraepithelial dyskeratosis GARD:17524 MONDO:equivalentTo Hereditary benign intraepithelial dyskeratosis -MONDO:0862337 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome GARD:17525 MONDO:equivalentTo Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome -MONDO:0862338 cobblestone lissencephaly without muscular or ocular involvement GARD:17526 MONDO:equivalentTo Cobblestone lissencephaly without muscular or ocular involvement -MONDO:0862339 cln13 disease GARD:17527 MONDO:equivalentTo CLN13 disease -MONDO:0862340 facial dysmorphism-immunodeficiency-livedo-short stature syndrome GARD:17528 MONDO:equivalentTo Facial dysmorphism-immunodeficiency-livedo-short stature syndrome -MONDO:0862341 progressive retinal dystrophy due to retinol transport defect GARD:17529 MONDO:equivalentTo Progressive retinal dystrophy due to retinol transport defect -MONDO:0862342 temperature-sensitive oculocutaneous albinism type 1 GARD:17530 MONDO:equivalentTo Temperature-sensitive oculocutaneous albinism type 1 -MONDO:0862343 oculocutaneous albinism type 7 GARD:17531 MONDO:equivalentTo Oculocutaneous albinism type 7 -MONDO:0862344 epileptic encephalopathy with global cerebral demyelination GARD:17532 MONDO:equivalentTo Epileptic encephalopathy with global cerebral demyelination -MONDO:0862345 familial primary localized cutaneous amyloidosis GARD:17533 MONDO:equivalentTo Familial primary localized cutaneous amyloidosis -MONDO:0862346 rubinstein-taybi syndrome due to crebbp mutations GARD:17534 MONDO:equivalentTo Rubinstein-Taybi syndrome due to CREBBP mutations -MONDO:0862347 rubinstein-taybi syndrome due to ep300 haploinsufficiency GARD:17535 MONDO:equivalentTo Rubinstein-Taybi syndrome due to EP300 haploinsufficiency -MONDO:0862348 pyruvate carboxylase deficiency, infantile type GARD:17536 MONDO:equivalentTo Pyruvate carboxylase deficiency, infantile type -MONDO:0862349 pyruvate carboxylase deficiency, severe neonatal type GARD:17537 MONDO:equivalentTo Pyruvate carboxylase deficiency, severe neonatal type -MONDO:0862350 pyruvate carboxylase deficiency, benign type GARD:17538 MONDO:equivalentTo Pyruvate carboxylase deficiency, benign type -MONDO:0862351 congenital myasthenic syndromes with glycosylation defect GARD:17539 MONDO:equivalentTo Congenital myasthenic syndromes with glycosylation defect -MONDO:0862352 d,l-2-hydroxyglutaric aciduria GARD:17540 MONDO:equivalentTo D,L-2-hydroxyglutaric aciduria -MONDO:0862353 ank3-related intellectual disability-sleep disturbance syndrome GARD:17541 MONDO:equivalentTo ANK3-related intellectual disability-sleep disturbance syndrome -MONDO:0862354 19p13.13 microdeletion syndrome GARD:17542 MONDO:equivalentTo 19p13.13 microdeletion syndrome -MONDO:0862355 hemolytic uremic syndrome with dgke deficiency GARD:17543 MONDO:equivalentTo Hemolytic uremic syndrome with DGKE deficiency -MONDO:0862356 hereditary retinoblastoma GARD:17544 MONDO:equivalentTo Hereditary retinoblastoma -MONDO:0862357 non-hereditary retinoblastoma GARD:17545 MONDO:equivalentTo Non-hereditary retinoblastoma -MONDO:0862358 autosomal recessive cutis laxa type 2, classic type GARD:17546 MONDO:equivalentTo Autosomal recessive cutis laxa type 2, classic type -MONDO:0862359 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome GARD:17547 MONDO:equivalentTo Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome -MONDO:0862360 short ulna-dysmorphism-hypotonia-intellectual disability syndrome GARD:17548 MONDO:equivalentTo Short ulna-dysmorphism-hypotonia-intellectual disability syndrome -MONDO:0862361 severe combined immunodeficiency due to card11 deficiency GARD:17549 MONDO:equivalentTo Severe combined immunodeficiency due to CARD11 deficiency -MONDO:0862362 combined immunodeficiency due to il21r deficiency GARD:17550 MONDO:equivalentTo Combined immunodeficiency due to IL21R deficiency -MONDO:0862363 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome GARD:17551 MONDO:equivalentTo Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome -MONDO:0862364 severe neurodegenerative syndrome with lipodystrophy GARD:17552 MONDO:equivalentTo Severe neurodegenerative syndrome with lipodystrophy -MONDO:0862365 fetal akinesia-cerebral and retinal hemorrhage syndrome GARD:17553 MONDO:equivalentTo Fetal akinesia-cerebral and retinal hemorrhage syndrome -MONDO:0862366 hypomyelination with brain stem and spinal cord involvement and leg spasticity GARD:17554 MONDO:equivalentTo Hypomyelination with brain stem and spinal cord involvement and leg spasticity -MONDO:0862367 multiple mitochondrial dysfunctions syndrome type 3 GARD:17555 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 3 -MONDO:0862368 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome GARD:17556 MONDO:equivalentTo Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome -MONDO:0862369 autosomal recessive congenital cerebellar ataxia due to grid2 deficiency GARD:17557 MONDO:equivalentTo Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency -MONDO:0862370 thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome GARD:17558 MONDO:equivalentTo THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome -MONDO:0862371 autosomal dominant childhood-onset proximal spinal muscular atrophy GARD:17559 MONDO:equivalentTo Autosomal dominant childhood-onset proximal spinal muscular atrophy -MONDO:0862372 testicular teratoma GARD:17560 MONDO:equivalentTo Testicular teratoma -MONDO:0862373 non-seminomatous germ cell tumor of testis GARD:17561 MONDO:equivalentTo Non-seminomatous germ cell tumor of testis -MONDO:0862374 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome GARD:17562 MONDO:equivalentTo Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome -MONDO:0862375 intellectual disability-strabismus syndrome GARD:17563 MONDO:equivalentTo Intellectual disability-strabismus syndrome -MONDO:0862376 mitochondrial dna depletion syndrome, hepatocerebrorenal form GARD:17564 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, hepatocerebrorenal form -MONDO:0862377 leukoencephalopathy with mild cerebellar ataxia and white matter edema GARD:17565 MONDO:equivalentTo Leukoencephalopathy with mild cerebellar ataxia and white matter edema -MONDO:0862378 ctcf-related neurodevelopmental disorder GARD:17566 MONDO:equivalentTo CTCF-related neurodevelopmental disorder -MONDO:0862379 x-linked parkinsonism-spasticity syndrome GARD:17567 MONDO:equivalentTo X-linked parkinsonism-spasticity syndrome -MONDO:0862380 childhood-onset autosomal recessive myopathy with external ophthalmoplegia GARD:17568 MONDO:equivalentTo Childhood-onset autosomal recessive myopathy with external ophthalmoplegia -MONDO:0862381 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome GARD:17569 MONDO:equivalentTo Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome -MONDO:0862382 neurofibromatosis type 1 due to nf1 mutation or intragenic deletion GARD:17570 MONDO:equivalentTo Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion -MONDO:0862383 craniofaciofrontodigital syndrome GARD:17571 MONDO:equivalentTo Craniofaciofrontodigital syndrome -MONDO:0862384 alexander disease type i GARD:17572 MONDO:equivalentTo Alexander disease type I -MONDO:0862385 alexander disease type ii GARD:17573 MONDO:equivalentTo Alexander disease type II -MONDO:0862386 x-linked dyserythropoietic anemia with abnormal platelets and neutropenia GARD:17574 MONDO:equivalentTo X-linked dyserythropoietic anemia with abnormal platelets and neutropenia -MONDO:0862387 colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome GARD:17575 MONDO:equivalentTo Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome -MONDO:0862388 17q21.31 microdeletion syndrome GARD:17576 MONDO:equivalentTo 17q21.31 microdeletion syndrome -MONDO:0862389 noonan syndrome-like disorder with juvenile myelomonocytic leukemia GARD:17577 MONDO:equivalentTo Noonan syndrome-like disorder with juvenile myelomonocytic leukemia -MONDO:0862390 charcot-marie-tooth disease type 4b3 GARD:17578 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4B3 -MONDO:0862391 ichthyosis-short stature-brachydactyly-microspherophakia syndrome GARD:17579 MONDO:equivalentTo Ichthyosis-short stature-brachydactyly-microspherophakia syndrome -MONDO:0862392 non-immune hydrops fetalis GARD:17580 MONDO:equivalentTo Non-immune hydrops fetalis -MONDO:0862393 x-linked intellectual disability due to gria3 mutations GARD:17581 MONDO:equivalentTo X-linked intellectual disability due to GRIA3 mutations -MONDO:0862394 infantile epileptic-dyskinetic encephalopathy GARD:17582 MONDO:equivalentTo Infantile epileptic-dyskinetic encephalopathy -MONDO:0862395 intellectual disability-brachydactyly-pierre robin syndrome GARD:17583 MONDO:equivalentTo Intellectual disability-brachydactyly-Pierre Robin syndrome -MONDO:0862396 intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome GARD:17584 MONDO:equivalentTo Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome -MONDO:0862397 congenital neutropenia-myelofibrosis-nephromegaly syndrome GARD:17585 MONDO:equivalentTo Congenital neutropenia-myelofibrosis-nephromegaly syndrome -MONDO:0862398 congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome GARD:17586 MONDO:equivalentTo Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome -MONDO:0862399 autosomal recessive intermediate charcot-marie-tooth disease type c GARD:17587 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease type C -MONDO:0862400 developmental delay-facial dysmorphism syndrome due to med13l deficiency GARD:17588 MONDO:equivalentTo Developmental delay-facial dysmorphism syndrome due to MED13L deficiency -MONDO:0862401 combined oxidative phosphorylation defect type 17 GARD:17589 MONDO:equivalentTo Combined oxidative phosphorylation defect type 17 -MONDO:0862402 pontocerebellar hypoplasia type 9 GARD:17590 MONDO:equivalentTo Pontocerebellar hypoplasia type 9 -MONDO:0862403 primary hyperaldosteronism-seizures-neurological abnormalities syndrome GARD:17591 MONDO:equivalentTo Primary hyperaldosteronism-seizures-neurological abnormalities syndrome -MONDO:0862404 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome GARD:17592 MONDO:equivalentTo Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome -MONDO:0862405 microcornea-myopic chorioretinal atrophy-telecanthus syndrome GARD:17593 MONDO:equivalentTo Microcornea-myopic chorioretinal atrophy-telecanthus syndrome -MONDO:0862406 severe dermatitis-multiple allergies-metabolic wasting syndrome GARD:17594 MONDO:equivalentTo Severe dermatitis-multiple allergies-metabolic wasting syndrome -MONDO:0862407 diffuse palmoplantar keratoderma with painful fissures GARD:17595 MONDO:equivalentTo Diffuse palmoplantar keratoderma with painful fissures -MONDO:0862408 focal palmoplantar keratoderma with joint keratoses GARD:17596 MONDO:equivalentTo Focal palmoplantar keratoderma with joint keratoses -MONDO:0862409 ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome GARD:17597 MONDO:equivalentTo Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome -MONDO:0862410 oculocutaneous albinism type 5 GARD:17598 MONDO:equivalentTo Oculocutaneous albinism type 5 -MONDO:0862411 oculocutaneous albinism type 6 GARD:17599 MONDO:equivalentTo Oculocutaneous albinism type 6 -MONDO:0862412 macrophagic myofasciitis GARD:176 MONDO:equivalentTo Macrophagic myofasciitis -MONDO:0862413 extraskeletal ewing sarcoma GARD:17600 MONDO:equivalentTo Extraskeletal Ewing sarcoma -MONDO:0862414 peripheral primitive neuroectodermal tumor GARD:17601 MONDO:equivalentTo Peripheral primitive neuroectodermal tumor -MONDO:0862415 stt3a-cdg GARD:17602 MONDO:equivalentTo STT3A-CDG -MONDO:0862416 stt3b-cdg GARD:17603 MONDO:equivalentTo STT3B-CDG -MONDO:0862417 autism spectrum disorder-epilepsy-arthrogryposis syndrome GARD:17604 MONDO:equivalentTo Autism spectrum disorder-epilepsy-arthrogryposis syndrome -MONDO:0862418 congenital muscular dystrophy with cerebellar involvement GARD:17605 MONDO:equivalentTo Congenital muscular dystrophy with cerebellar involvement -MONDO:0862419 congenital muscular dystrophy with intellectual disability GARD:17606 MONDO:equivalentTo Congenital muscular dystrophy with intellectual disability -MONDO:0862420 congenital muscular dystrophy without intellectual disability GARD:17607 MONDO:equivalentTo Congenital muscular dystrophy without intellectual disability -MONDO:0862421 muscle-eye-brain disease with bilateral multicystic leucodystrophy GARD:17608 MONDO:equivalentTo Muscle-eye-brain disease with bilateral multicystic leucodystrophy -MONDO:0862422 hypotonia-speech impairment-severe cognitive delay syndrome GARD:17609 MONDO:equivalentTo Hypotonia-speech impairment-severe cognitive delay syndrome -MONDO:0862423 multicentric osteolysis-nodulosis-arthropathy spectrum GARD:17610 MONDO:equivalentTo Multicentric osteolysis-nodulosis-arthropathy spectrum -MONDO:0862424 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome GARD:17611 MONDO:equivalentTo Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome -MONDO:0862425 susceptibility to viral and mycobacterial infections due to stat1 deficiency GARD:17612 MONDO:equivalentTo Susceptibility to viral and mycobacterial infections due to STAT1 deficiency -MONDO:0862426 east texas bleeding disorder GARD:17613 MONDO:equivalentTo East Texas bleeding disorder -MONDO:0862427 x-linked osteoporosis with fractures GARD:17614 MONDO:equivalentTo X-linked osteoporosis with fractures -MONDO:0862428 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome GARD:17615 MONDO:equivalentTo Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome -MONDO:0862429 surf1-related charcot-marie-tooth disease type 4 GARD:17616 MONDO:equivalentTo SURF1-related Charcot-Marie-Tooth disease type 4 -MONDO:0862430 congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome GARD:17617 MONDO:equivalentTo Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome -MONDO:0862431 familial episodic pain syndrome with predominantly upper body involvement GARD:17618 MONDO:equivalentTo Familial episodic pain syndrome with predominantly upper body involvement -MONDO:0862432 familial episodic pain syndrome with predominantly lower limb involvement GARD:17619 MONDO:equivalentTo Familial episodic pain syndrome with predominantly lower limb involvement -MONDO:0862433 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome GARD:17620 MONDO:equivalentTo Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome -MONDO:0862434 atypical juvenile parkinsonism GARD:17621 MONDO:equivalentTo Atypical juvenile parkinsonism -MONDO:0862435 hsd10 disease, infantile type GARD:17622 MONDO:equivalentTo HSD10 disease, infantile type -MONDO:0862436 hsd10 disease, neonatal type GARD:17623 MONDO:equivalentTo HSD10 disease, neonatal type -MONDO:0862437 feingold syndrome type 1 GARD:17624 MONDO:equivalentTo Feingold syndrome type 1 -MONDO:0862438 feingold syndrome type 2 GARD:17625 MONDO:equivalentTo Feingold syndrome type 2 -MONDO:0862439 multiple acyl-coa dehydrogenase deficiency, severe neonatal type GARD:17626 MONDO:equivalentTo Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type -MONDO:0862440 multiple acyl-coa dehydrogenase deficiency, mild type GARD:17627 MONDO:equivalentTo Multiple acyl-CoA dehydrogenase deficiency, mild type -MONDO:0862441 silver-russell syndrome due to a point mutation GARD:17628 MONDO:equivalentTo Silver-Russell syndrome due to a point mutation -MONDO:0862442 severe neonatal lactic acidosis due to nfs1-isd11 complex deficiency GARD:17629 MONDO:equivalentTo Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency -MONDO:0862443 macrocephaly-developmental delay syndrome GARD:17630 MONDO:equivalentTo Macrocephaly-developmental delay syndrome -MONDO:0862444 obesity due to cep19 deficiency GARD:17631 MONDO:equivalentTo Obesity due to CEP19 deficiency -MONDO:0862445 foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome GARD:17632 MONDO:equivalentTo Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome -MONDO:0862446 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome GARD:17633 MONDO:equivalentTo Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome -MONDO:0862447 familial hyperprolactinemia GARD:17634 MONDO:equivalentTo Familial hyperprolactinemia -MONDO:0862448 hereditary isolated aplastic anemia GARD:17635 MONDO:equivalentTo Hereditary isolated aplastic anemia -MONDO:0862449 intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome GARD:17636 MONDO:equivalentTo Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome -MONDO:0862450 joubert syndrome with jeune asphyxiating thoracic dystrophy GARD:17637 MONDO:equivalentTo Joubert syndrome with Jeune asphyxiating thoracic dystrophy -MONDO:0862451 autosomal dominant charcot-marie-tooth disease type 2u GARD:17638 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2U -MONDO:0862452 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome GARD:17639 MONDO:equivalentTo Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome -MONDO:0862453 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies GARD:17640 MONDO:equivalentTo Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies -MONDO:0862454 severe combined immunodeficiency due to ikk2 deficiency GARD:17641 MONDO:equivalentTo Severe combined immunodeficiency due to IKK2 deficiency -MONDO:0862455 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome GARD:17642 MONDO:equivalentTo Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome -MONDO:0862456 polyglucosan body myopathy type 1 GARD:17643 MONDO:equivalentTo Polyglucosan body myopathy type 1 -MONDO:0862457 autosomal spastic paraplegia type 58 GARD:17644 MONDO:equivalentTo Autosomal spastic paraplegia type 58 -MONDO:0862458 microcephaly-thin corpus callosum-intellectual disability syndrome GARD:17645 MONDO:equivalentTo Microcephaly-thin corpus callosum-intellectual disability syndrome -MONDO:0862459 tcr-alpha-beta-positive t-cell deficiency GARD:17646 MONDO:equivalentTo TCR-alpha-beta-positive T-cell deficiency -MONDO:0862460 combined immunodeficiency due to malt1 deficiency GARD:17647 MONDO:equivalentTo Combined immunodeficiency due to MALT1 deficiency -MONDO:0862461 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome GARD:17648 MONDO:equivalentTo Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome -MONDO:0862462 focal facial dermal dysplasia type ii GARD:17649 MONDO:equivalentTo Focal facial dermal dysplasia type II -MONDO:0862463 focal facial dermal dysplasia type iv GARD:17650 MONDO:equivalentTo Focal facial dermal dysplasia type IV -MONDO:0862464 alpha-b crystallin-related late-onset myopathy GARD:17651 MONDO:equivalentTo Alpha-B crystallin-related late-onset myopathy -MONDO:0862465 finnish upper limb-onset distal myopathy GARD:17652 MONDO:equivalentTo Finnish upper limb-onset distal myopathy -MONDO:0862466 distal anoctaminopathy GARD:17653 MONDO:equivalentTo Distal anoctaminopathy -MONDO:0862467 male infertility with teratozoospermia due to single gene mutation GARD:17654 MONDO:equivalentTo Male infertility with teratozoospermia due to single gene mutation -MONDO:0862468 pancytopenia-developmental delay syndrome GARD:17655 MONDO:equivalentTo Pancytopenia-developmental delay syndrome -MONDO:0862469 autosomal recessive spastic paraplegia type 61 GARD:17656 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 61 -MONDO:0862470 autosomal recessive spastic paraplegia type 62 GARD:17657 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 62 -MONDO:0862471 autosomal recessive spastic paraplegia type 63 GARD:17658 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 63 -MONDO:0862472 autosomal recessive spastic paraplegia type 64 GARD:17659 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 64 -MONDO:0862473 autosomal spastic paraplegia type 72 GARD:17660 MONDO:equivalentTo Autosomal spastic paraplegia type 72 -MONDO:0862474 multiple mitochondrial dysfunctions syndrome type 1 GARD:17661 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 1 -MONDO:0862475 multiple mitochondrial dysfunctions syndrome type 2 GARD:17662 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 2 -MONDO:0862476 familial median cleft of the upper and lower lips GARD:17663 MONDO:equivalentTo Familial median cleft of the upper and lower lips -MONDO:0862477 moyamoya disease with early-onset achalasia GARD:17664 MONDO:equivalentTo Moyamoya disease with early-onset achalasia -MONDO:0862478 episodic ataxia with slurred speech GARD:17665 MONDO:equivalentTo Episodic ataxia with slurred speech -MONDO:0862479 mend syndrome GARD:17666 MONDO:equivalentTo MEND syndrome -MONDO:0862480 autosomal recessive spondylometaphyseal dysplasia, mégarbané type GARD:17667 MONDO:equivalentTo Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type -MONDO:0862481 1p31p32 microdeletion syndrome GARD:17668 MONDO:equivalentTo 1p31p32 microdeletion syndrome -MONDO:0862482 autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering GARD:17669 MONDO:equivalentTo Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering -MONDO:0862483 familial bicuspid aortic valve GARD:17670 MONDO:equivalentTo Familial bicuspid aortic valve -MONDO:0862484 progressive myoclonic epilepsy type 5 GARD:17671 MONDO:equivalentTo Progressive myoclonic epilepsy type 5 -MONDO:0862485 diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome GARD:17672 MONDO:equivalentTo Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome -MONDO:0862486 intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency GARD:17673 MONDO:equivalentTo Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency -MONDO:0862487 tatton-brown-rahman syndrome GARD:17674 MONDO:equivalentTo Tatton-Brown-Rahman syndrome -MONDO:0862488 female infertility due to zona pellucida defect GARD:17675 MONDO:equivalentTo Female infertility due to zona pellucida defect -MONDO:0862489 global developmental delay-lung cysts-overgrowth-wilms tumor syndrome GARD:17676 MONDO:equivalentTo Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome -MONDO:0862490 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency GARD:17677 MONDO:equivalentTo Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency -MONDO:0862491 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency GARD:17678 MONDO:equivalentTo Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency -MONDO:0862492 ditra GARD:17679 MONDO:equivalentTo DITRA -MONDO:0862493 pontocerebellar hypoplasia type 10 GARD:17680 MONDO:equivalentTo Pontocerebellar hypoplasia type 10 -MONDO:0862494 mild phosphoribosylpyrophosphate synthetase superactivity GARD:17681 MONDO:equivalentTo Mild phosphoribosylpyrophosphate synthetase superactivity -MONDO:0862495 severe phosphoribosylpyrophosphate synthetase superactivity GARD:17682 MONDO:equivalentTo Severe phosphoribosylpyrophosphate synthetase superactivity -MONDO:0862496 wolfram-like syndrome GARD:17683 MONDO:equivalentTo Wolfram-like syndrome -MONDO:0862497 hereditary late-onset parkinson disease GARD:17684 MONDO:equivalentTo Hereditary late-onset Parkinson disease -MONDO:0862498 juvenile nephropathic cystinosis GARD:17685 MONDO:equivalentTo Juvenile nephropathic cystinosis -MONDO:0862499 maternal riboflavin deficiency GARD:17686 MONDO:equivalentTo Maternal riboflavin deficiency -MONDO:0862500 early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome GARD:17687 MONDO:equivalentTo Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome -MONDO:0862501 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome GARD:17688 MONDO:equivalentTo Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome -MONDO:0862502 autosomal recessive cerebellar ataxia due to stub1 deficiency GARD:17689 MONDO:equivalentTo Autosomal recessive cerebellar ataxia due to STUB1 deficiency -MONDO:0862503 epidermolysis bullosa simplex due to bp230 deficiency GARD:17690 MONDO:equivalentTo Epidermolysis bullosa simplex due to BP230 deficiency -MONDO:0862504 epidermolysis bullosa simplex due to exophilin 5 deficiency GARD:17691 MONDO:equivalentTo Epidermolysis bullosa simplex due to exophilin 5 deficiency -MONDO:0862505 primary failure of tooth eruption GARD:17692 MONDO:equivalentTo Primary failure of tooth eruption -MONDO:0862506 cranio-cervical dystonia with laryngeal and upper-limb involvement GARD:17693 MONDO:equivalentTo Cranio-cervical dystonia with laryngeal and upper-limb involvement -MONDO:0862507 adult-onset cervical dystonia, dyt23 type GARD:17694 MONDO:equivalentTo Adult-onset cervical dystonia, DYT23 type -MONDO:0862508 bleeding disorder due to caldag-gefi deficiency GARD:17695 MONDO:equivalentTo Bleeding disorder due to CalDAG-GEFI deficiency -MONDO:0862509 severe combined immunodeficiency due to ctps1 deficiency GARD:17696 MONDO:equivalentTo Severe combined immunodeficiency due to CTPS1 deficiency -MONDO:0862510 woolly hair-palmoplantar keratoderma syndrome GARD:17697 MONDO:equivalentTo Woolly hair-palmoplantar keratoderma syndrome -MONDO:0862511 autosomal recessive severe congenital neutropenia due to csf3r deficiency GARD:17698 MONDO:equivalentTo Autosomal recessive severe congenital neutropenia due to CSF3R deficiency -MONDO:0862512 combined oxidative phosphorylation defect type 20 GARD:17699 MONDO:equivalentTo Combined oxidative phosphorylation defect type 20 -MONDO:0862513 macrosomia-microphthalmia-cleft palate syndrome GARD:177 MONDO:equivalentTo Macrosomia-microphthalmia-cleft palate syndrome -MONDO:0862514 combined oxidative phosphorylation defect type 21 GARD:17700 MONDO:equivalentTo Combined oxidative phosphorylation defect type 21 -MONDO:0862515 riddle syndrome GARD:17701 MONDO:equivalentTo RIDDLE syndrome -MONDO:0862516 autosomal recessive severe congenital neutropenia due to jagn1 deficiency GARD:17702 MONDO:equivalentTo Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency -MONDO:0862517 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome GARD:17703 MONDO:equivalentTo Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome -MONDO:0862518 mucolipidosis type iii alpha/beta GARD:17704 MONDO:equivalentTo Mucolipidosis type III alpha/beta -MONDO:0862519 mucolipidosis type iii gamma GARD:17705 MONDO:equivalentTo Mucolipidosis type III gamma -MONDO:0862520 progressive myoclonic epilepsy type 8 GARD:17706 MONDO:equivalentTo Progressive myoclonic epilepsy type 8 -MONDO:0862521 colobomatous microphthalmia-rhizomelic dysplasia syndrome GARD:17707 MONDO:equivalentTo Colobomatous microphthalmia-rhizomelic dysplasia syndrome -MONDO:0862522 tor1aip1-related limb-girdle muscular dystrophy GARD:17708 MONDO:equivalentTo TOR1AIP1-related limb-girdle muscular dystrophy -MONDO:0862523 x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome GARD:17709 MONDO:equivalentTo X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome -MONDO:0862524 combined immunodeficiency due to ox40 deficiency GARD:17710 MONDO:equivalentTo Combined immunodeficiency due to OX40 deficiency -MONDO:0862525 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection GARD:17711 MONDO:equivalentTo Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection -MONDO:0862526 autosomal recessive spastic paraplegia type 57 GARD:17712 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 57 -MONDO:0862527 familial ossifying fibroma GARD:17713 MONDO:equivalentTo Familial ossifying fibroma -MONDO:0862528 autosomal dominant charcot-marie-tooth disease type 2y GARD:17714 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2Y -MONDO:0862529 progressive myoclonic epilepsy type 7 GARD:17715 MONDO:equivalentTo Progressive myoclonic epilepsy type 7 -MONDO:0862530 keppen-lubinsky syndrome GARD:17716 MONDO:equivalentTo Keppen-Lubinsky syndrome -MONDO:0862531 short stature-advanced bone age-early-onset osteoarthritis syndrome GARD:17717 MONDO:equivalentTo Short stature-advanced bone age-early-onset osteoarthritis syndrome -MONDO:0862532 lethal neonatal spasticity-epileptic encephalopathy syndrome GARD:17718 MONDO:equivalentTo Lethal neonatal spasticity-epileptic encephalopathy syndrome -MONDO:0862533 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome GARD:17719 MONDO:equivalentTo Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome -MONDO:0862534 cog2-cdg GARD:17720 MONDO:equivalentTo COG2-CDG -MONDO:0862535 x-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome GARD:17721 MONDO:equivalentTo X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome -MONDO:0862536 progeroid features-hepatocellular carcinoma predisposition syndrome GARD:17722 MONDO:equivalentTo Progeroid features-hepatocellular carcinoma predisposition syndrome -MONDO:0862537 autosomal recessive intermediate charcot-marie-tooth disease type d GARD:17723 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease type D -MONDO:0862538 intellectual disability-expressive aphasia-facial dysmorphism syndrome GARD:17724 MONDO:equivalentTo Intellectual disability-expressive aphasia-facial dysmorphism syndrome -MONDO:0862539 periodic fever-infantile enterocolitis-autoinflammatory syndrome GARD:17725 MONDO:equivalentTo Periodic fever-infantile enterocolitis-autoinflammatory syndrome -MONDO:0862540 thrombomodulin-related bleeding disorder GARD:17726 MONDO:equivalentTo Thrombomodulin-related bleeding disorder -MONDO:0862541 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome GARD:17727 MONDO:equivalentTo Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome -MONDO:0862542 microcephalic primordial dwarfism-insulin resistance syndrome GARD:17728 MONDO:equivalentTo Microcephalic primordial dwarfism-insulin resistance syndrome -MONDO:0862543 familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease GARD:17729 MONDO:equivalentTo Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease -MONDO:0862544 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome GARD:17730 MONDO:equivalentTo Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome -MONDO:0862545 combined immunodeficiency-enteropathy spectrum GARD:17731 MONDO:equivalentTo Combined immunodeficiency-enteropathy spectrum -MONDO:0862546 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity GARD:17732 MONDO:equivalentTo Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity -MONDO:0862547 ketoacidosis due to monocarboxylate transporter-1 deficiency GARD:17733 MONDO:equivalentTo Ketoacidosis due to monocarboxylate transporter-1 deficiency -MONDO:0862548 rars-related autosomal recessive hypomyelinating leukodystrophy GARD:17734 MONDO:equivalentTo RARS-related autosomal recessive hypomyelinating leukodystrophy -MONDO:0862549 steel syndrome GARD:17735 MONDO:equivalentTo Steel syndrome -MONDO:0862550 pcna-related progressive neurodegenerative photosensitivity syndrome GARD:17736 MONDO:equivalentTo PCNA-related progressive neurodegenerative photosensitivity syndrome -MONDO:0862551 stat3-related early-onset multisystem autoimmune disease GARD:17737 MONDO:equivalentTo STAT3-related early-onset multisystem autoimmune disease -MONDO:0862552 severe autosomal recessive macrothrombocytopenia GARD:17738 MONDO:equivalentTo Severe autosomal recessive macrothrombocytopenia -MONDO:0862553 pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome GARD:17739 MONDO:equivalentTo PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome -MONDO:0862554 pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation GARD:17740 MONDO:equivalentTo PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation -MONDO:0862555 itm2b amyloidosis GARD:17741 MONDO:equivalentTo ITM2B amyloidosis -MONDO:0862556 pde4d haploinsufficiency syndrome GARD:17742 MONDO:equivalentTo PDE4D haploinsufficiency syndrome -MONDO:0862557 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome GARD:17743 MONDO:equivalentTo Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome -MONDO:0862558 interstitial lung disease due to sp-c deficiency GARD:17744 MONDO:equivalentTo Interstitial lung disease due to SP-C deficiency -MONDO:0862559 interstitial lung disease due to abca3 deficiency GARD:17745 MONDO:equivalentTo Interstitial lung disease due to ABCA3 deficiency -MONDO:0862560 severe early-onset pulmonary alveolar proteinosis due to mars deficiency GARD:17746 MONDO:equivalentTo Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency -MONDO:0862561 ribose-5-p isomerase deficiency GARD:17747 MONDO:equivalentTo Ribose-5-P isomerase deficiency -MONDO:0862562 l-ferritin deficiency GARD:17748 MONDO:equivalentTo L-ferritin deficiency -MONDO:0862563 sporadic porphyria cutanea tarda GARD:17749 MONDO:equivalentTo Sporadic porphyria cutanea tarda -MONDO:0862564 familial porphyria cutanea tarda GARD:17750 MONDO:equivalentTo Familial porphyria cutanea tarda -MONDO:0862565 charcot-marie-tooth disease type 2s GARD:17751 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2S -MONDO:0862566 46,xy disorder of sex development due to testicular 17,20-desmolase deficiency GARD:17752 MONDO:equivalentTo 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency -MONDO:0862567 hyperostosis cranialis interna GARD:17753 MONDO:equivalentTo Hyperostosis cranialis interna -MONDO:0862568 classic stiff person syndrome GARD:17754 MONDO:equivalentTo Classic stiff person syndrome -MONDO:0862569 x-linked erythropoietic protoporphyria GARD:17755 MONDO:equivalentTo X-linked erythropoietic protoporphyria -MONDO:0862570 focal stiff limb syndrome GARD:17756 MONDO:equivalentTo Focal stiff limb syndrome -MONDO:0862571 ventriculomegaly-cystic kidney disease GARD:17757 MONDO:equivalentTo Ventriculomegaly-cystic kidney disease -MONDO:0862572 mandibulofacial dysostosis with alopecia GARD:17758 MONDO:equivalentTo Mandibulofacial dysostosis with alopecia -MONDO:0862573 combined oxidative phosphorylation defect type 23 GARD:17759 MONDO:equivalentTo Combined oxidative phosphorylation defect type 23 -MONDO:0862574 46,xx ovarian dysgenesis-short stature syndrome GARD:17760 MONDO:equivalentTo 46,XX ovarian dysgenesis-short stature syndrome -MONDO:0862575 cerebellar-facial-dental syndrome GARD:17761 MONDO:equivalentTo Cerebellar-facial-dental syndrome -MONDO:0862576 autoimmune interstitial lung disease-arthritis syndrome GARD:17762 MONDO:equivalentTo Autoimmune interstitial lung disease-arthritis syndrome -MONDO:0862577 autosomal dominant spastic paraplegia type 73 GARD:17763 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 73 -MONDO:0862578 peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome GARD:17764 MONDO:equivalentTo Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome -MONDO:0862579 combined oxidative phosphorylation defect type 24 GARD:17765 MONDO:equivalentTo Combined oxidative phosphorylation defect type 24 -MONDO:0862580 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome GARD:17766 MONDO:equivalentTo Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome -MONDO:0862581 3-methylglutaconic aciduria type 7 GARD:17767 MONDO:equivalentTo 3-methylglutaconic aciduria type 7 -MONDO:0862582 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome GARD:17768 MONDO:equivalentTo Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome -MONDO:0862583 limb-girdle muscular dystrophy due to pomk deficiency GARD:17769 MONDO:equivalentTo Limb-girdle muscular dystrophy due to POMK deficiency -MONDO:0862584 autosomal recessive spastic paraplegia type 9b GARD:17770 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 9B -MONDO:0862585 mitochondrial pyruvate carrier deficiency GARD:17771 MONDO:equivalentTo Mitochondrial pyruvate carrier deficiency -MONDO:0862586 polymerase proofreading-related adenomatous polyposis GARD:17772 MONDO:equivalentTo Polymerase proofreading-related adenomatous polyposis -MONDO:0862587 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome GARD:17773 MONDO:equivalentTo Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome -MONDO:0862588 tremor-ataxia-central hypomyelination syndrome GARD:17774 MONDO:equivalentTo Tremor-ataxia-central hypomyelination syndrome -MONDO:0862589 combined oxidative phosphorylation defect type 25 GARD:17775 MONDO:equivalentTo Combined oxidative phosphorylation defect type 25 -MONDO:0862590 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome GARD:17776 MONDO:equivalentTo Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome -MONDO:0862591 autosomal dominant charcot-marie-tooth disease type 2v GARD:17777 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2V -MONDO:0862592 klippel-feil anomaly-myopathy-facial dysmorphism syndrome GARD:17778 MONDO:equivalentTo Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome -MONDO:0862593 progressive scapulohumeroperoneal distal myopathy GARD:17779 MONDO:equivalentTo Progressive scapulohumeroperoneal distal myopathy -MONDO:0862594 progressive autosomal recessive ataxia-deafness syndrome GARD:17780 MONDO:equivalentTo Progressive autosomal recessive ataxia-deafness syndrome -MONDO:0862595 isolated focal non-epidermolytic palmoplantar keratoderma GARD:17781 MONDO:equivalentTo Isolated focal non-epidermolytic palmoplantar keratoderma -MONDO:0862596 regressive spondylometaphyseal dysplasia GARD:17782 MONDO:equivalentTo Regressive spondylometaphyseal dysplasia -MONDO:0862597 symptomatic form of fragile x syndrome in female carriers GARD:17783 MONDO:equivalentTo Symptomatic form of fragile X syndrome in female carriers -MONDO:0862598 familial congenital nasolacrimal duct obstruction GARD:17784 MONDO:equivalentTo Familial congenital nasolacrimal duct obstruction -MONDO:0862599 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome GARD:17785 MONDO:equivalentTo Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome -MONDO:0862600 autosomal recessive cerebellar ataxia due to cwf19l1 deficiency GARD:17786 MONDO:equivalentTo Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency -MONDO:0862601 polyendocrine-polyneuropathy syndrome GARD:17787 MONDO:equivalentTo Polyendocrine-polyneuropathy syndrome -MONDO:0862602 acquired creutzfeldt-jakob disease GARD:17788 MONDO:equivalentTo Acquired Creutzfeldt-Jakob disease -MONDO:0862603 pleomorphic salivary gland adenoma GARD:17789 MONDO:equivalentTo Pleomorphic salivary gland adenoma -MONDO:0862604 nthl1-related attenuated familial adenomatous polyposis GARD:17790 MONDO:equivalentTo NTHL1-related attenuated familial adenomatous polyposis -MONDO:0862605 infantile multisystem neurologic-endocrine-pancreatic disease GARD:17791 MONDO:equivalentTo Infantile multisystem neurologic-endocrine-pancreatic disease -MONDO:0862606 x-linked myotubular myopathy-abnormal genitalia syndrome GARD:17792 MONDO:equivalentTo X-linked myotubular myopathy-abnormal genitalia syndrome -MONDO:0862607 polyglucosan body myopathy type 2 GARD:17793 MONDO:equivalentTo Polyglucosan body myopathy type 2 -MONDO:0862608 autosomal dominant mitochondrial myopathy with exercise intolerance GARD:17794 MONDO:equivalentTo Autosomal dominant mitochondrial myopathy with exercise intolerance -MONDO:0862609 predisposition to invasive fungal disease due to card9 deficiency GARD:17795 MONDO:equivalentTo Predisposition to invasive fungal disease due to CARD9 deficiency -MONDO:0862610 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome GARD:17796 MONDO:equivalentTo Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome -MONDO:0862611 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome GARD:17797 MONDO:equivalentTo Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome -MONDO:0862612 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome GARD:17798 MONDO:equivalentTo Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome -MONDO:0862613 syndromic sensorineural deafness due to combined oxidative phosphorylation defect GARD:17799 MONDO:equivalentTo Syndromic sensorineural deafness due to combined oxidative phosphorylation defect -MONDO:0862614 momo syndrome GARD:178 MONDO:equivalentTo MOMO syndrome -MONDO:0862615 x-linked intellectual disability-short stature-overweight syndrome GARD:17800 MONDO:equivalentTo X-linked intellectual disability-short stature-overweight syndrome -MONDO:0862616 progressive myoclonic epilepsy type 9 GARD:17801 MONDO:equivalentTo Progressive myoclonic epilepsy type 9 -MONDO:0862617 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome GARD:17802 MONDO:equivalentTo Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome -MONDO:0862618 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome GARD:17803 MONDO:equivalentTo Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome -MONDO:0862619 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome GARD:17804 MONDO:equivalentTo Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome -MONDO:0862620 megalencephaly-severe kyphoscoliosis-overgrowth syndrome GARD:17805 MONDO:equivalentTo Megalencephaly-severe kyphoscoliosis-overgrowth syndrome -MONDO:0862621 itpa-related lethal infantile neurological disorder with cataract and cardiac involvement GARD:17806 MONDO:equivalentTo ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement -MONDO:0862622 complex lethal osteochondrodysplasia GARD:17807 MONDO:equivalentTo Complex lethal osteochondrodysplasia -MONDO:0862623 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome GARD:17808 MONDO:equivalentTo Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome -MONDO:0862624 multiple mitochondrial dysfunctions syndrome type 4 GARD:17809 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 4 -MONDO:0862625 spinocerebellar ataxia type 41 GARD:17810 MONDO:equivalentTo Spinocerebellar ataxia type 41 -MONDO:0862626 spinocerebellar ataxia type 42 GARD:17811 MONDO:equivalentTo Spinocerebellar ataxia type 42 -MONDO:0862627 spondyloepiphyseal dysplasia, stanescu type GARD:17812 MONDO:equivalentTo Spondyloepiphyseal dysplasia, Stanescu type -MONDO:0862628 autosomal recessive spastic paraplegia type 75 GARD:17813 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 75 -MONDO:0862629 craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome GARD:17814 MONDO:equivalentTo Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome -MONDO:0862630 x-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome GARD:17815 MONDO:equivalentTo X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome -MONDO:0862631 spastic paraplegia-severe developmental delay-epilepsy syndrome GARD:17816 MONDO:equivalentTo Spastic paraplegia-severe developmental delay-epilepsy syndrome -MONDO:0862632 short stature-brachydactyly-obesity-global developmental delay syndrome GARD:17817 MONDO:equivalentTo Short stature-brachydactyly-obesity-global developmental delay syndrome -MONDO:0862633 nek9-related lethal skeletal dysplasia GARD:17818 MONDO:equivalentTo NEK9-related lethal skeletal dysplasia -MONDO:0862634 primary dystonia, dyt27 type GARD:17819 MONDO:equivalentTo Primary dystonia, DYT27 type -MONDO:0862635 fever-associated acute infantile liver failure syndrome GARD:17820 MONDO:equivalentTo Fever-associated acute infantile liver failure syndrome -MONDO:0862636 basel-vanagaite-smirin-yosef syndrome GARD:17821 MONDO:equivalentTo Basel-Vanagaite-Smirin-Yosef syndrome -MONDO:0862637 familial cavitary optic disc anomaly GARD:17822 MONDO:equivalentTo Familial cavitary optic disc anomaly -MONDO:0862638 fetal encasement syndrome GARD:17823 MONDO:equivalentTo Fetal encasement syndrome -MONDO:0862639 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome GARD:17824 MONDO:equivalentTo Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome -MONDO:0862640 tmem199-cdg GARD:17825 MONDO:equivalentTo TMEM199-CDG -MONDO:0862641 martinique crinkled retinal pigment epitheliopathy GARD:17826 MONDO:equivalentTo Martinique crinkled retinal pigment epitheliopathy -MONDO:0862642 autosomal recessive spastic paraplegia type 77 GARD:17827 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 77 -MONDO:0862643 familial patent arterial duct GARD:17828 MONDO:equivalentTo Familial patent arterial duct -MONDO:0862644 autosomal dominant charcot-marie-tooth disease type 2z GARD:17829 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2Z -MONDO:0862645 autosomal recessive charcot-marie-tooth disease type 2x GARD:17830 MONDO:equivalentTo Autosomal recessive Charcot-Marie-Tooth disease type 2X -MONDO:0862646 neonatal severe cardiopulmonary failure due to mitochondrial methylation defect GARD:17831 MONDO:equivalentTo Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect -MONDO:0862647 macrocephaly-intellectual disability-left ventricular non compaction syndrome GARD:17832 MONDO:equivalentTo Macrocephaly-intellectual disability-left ventricular non compaction syndrome -MONDO:0862648 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome GARD:17833 MONDO:equivalentTo Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome -MONDO:0862649 lims2-related limb-girdle muscular dystrophy GARD:17834 MONDO:equivalentTo LIMS2-related limb-girdle muscular dystrophy -MONDO:0862650 autosomal dominant thrombocytopenia with platelet secretion defect GARD:17835 MONDO:equivalentTo Autosomal dominant thrombocytopenia with platelet secretion defect -MONDO:0862651 seizures-scoliosis-macrocephaly syndrome GARD:17836 MONDO:equivalentTo Seizures-scoliosis-macrocephaly syndrome -MONDO:0862652 vps11-related autosomal recessive hypomyelinating leukodystrophy GARD:17837 MONDO:equivalentTo VPS11-related autosomal recessive hypomyelinating leukodystrophy -MONDO:0862653 wac-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome GARD:17838 MONDO:equivalentTo WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome -MONDO:0862654 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to wac point mutation GARD:17839 MONDO:equivalentTo Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation -MONDO:0862655 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome GARD:17840 MONDO:equivalentTo Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome -MONDO:0862656 microcephalic cortical malformations-short stature due to rttn deficiency GARD:17841 MONDO:equivalentTo Microcephalic cortical malformations-short stature due to RTTN deficiency -MONDO:0862657 autosomal recessive spastic paraplegia type 74 GARD:17842 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 74 -MONDO:0862658 isolated generalized anhidrosis with normal sweat glands GARD:17843 MONDO:equivalentTo Isolated generalized anhidrosis with normal sweat glands -MONDO:0862659 colobomatous macrophthalmia-microcornea syndrome GARD:17844 MONDO:equivalentTo Colobomatous macrophthalmia-microcornea syndrome -MONDO:0862660 ccdc115-cdg GARD:17845 MONDO:equivalentTo CCDC115-CDG -MONDO:0862661 slc39a8-cdg GARD:17846 MONDO:equivalentTo SLC39A8-CDG -MONDO:0862662 bves-related limb-girdle muscular dystrophy GARD:17847 MONDO:equivalentTo BVES-related limb-girdle muscular dystrophy -MONDO:0862663 hereditary pediatric behçet-like disease GARD:17848 MONDO:equivalentTo Hereditary pediatric Behçet-like disease -MONDO:0862664 combined immunodeficiency due to tfrc deficiency GARD:17849 MONDO:equivalentTo Combined immunodeficiency due to TFRC deficiency -MONDO:0862665 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome GARD:17850 MONDO:equivalentTo Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome -MONDO:0862666 pmp2-related charcot-marie-tooth disease type 1 GARD:17851 MONDO:equivalentTo PMP2-related Charcot-Marie-Tooth disease type 1 -MONDO:0862667 il21-related infantile inflammatory bowel disease GARD:17852 MONDO:equivalentTo IL21-related infantile inflammatory bowel disease -MONDO:0862668 postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome GARD:17853 MONDO:equivalentTo Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome -MONDO:0862669 combined oxidative phosphorylation defect type 26 GARD:17854 MONDO:equivalentTo Combined oxidative phosphorylation defect type 26 -MONDO:0862670 pontine autosomal dominant microangiopathy with leukoencephalopathy GARD:17855 MONDO:equivalentTo Pontine autosomal dominant microangiopathy with leukoencephalopathy -MONDO:0862671 combined oxidative phosphorylation defect type 27 GARD:17856 MONDO:equivalentTo Combined oxidative phosphorylation defect type 27 -MONDO:0862672 cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder GARD:17857 MONDO:equivalentTo Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder -MONDO:0862673 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome GARD:17858 MONDO:equivalentTo Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome -MONDO:0862674 pmp22-rai1 contiguous gene duplication syndrome GARD:17859 MONDO:equivalentTo PMP22-RAI1 contiguous gene duplication syndrome -MONDO:0862675 kosaki overgrowth syndrome GARD:17860 MONDO:equivalentTo Kosaki overgrowth syndrome -MONDO:0862676 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete rorgamma receptor deficiency GARD:17861 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency -MONDO:0862677 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome GARD:17862 MONDO:equivalentTo Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome -MONDO:0862678 combined oxidative phosphorylation defect type 29 GARD:17863 MONDO:equivalentTo Combined oxidative phosphorylation defect type 29 -MONDO:0862679 combined oxidative phosphorylation defect type 30 GARD:17864 MONDO:equivalentTo Combined oxidative phosphorylation defect type 30 -MONDO:0862680 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome GARD:17865 MONDO:equivalentTo Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome -MONDO:0862681 hereditary sensory and autonomic neuropathy type 8 GARD:17866 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 8 -MONDO:0862682 progressive familial intrahepatic cholestasis type 5 GARD:17867 MONDO:equivalentTo Progressive familial intrahepatic cholestasis type 5 -MONDO:0862683 msh3-related attenuated familial adenomatous polyposis GARD:17868 MONDO:equivalentTo MSH3-related attenuated familial adenomatous polyposis -MONDO:0862684 poglut1-related limb-girdle muscular dystrophy r21 GARD:17869 MONDO:equivalentTo POGLUT1-related limb-girdle muscular dystrophy R21 -MONDO:0862685 hereditary thrombocytopenia with early-onset myelofibrosis GARD:17870 MONDO:equivalentTo Hereditary thrombocytopenia with early-onset myelofibrosis -MONDO:0862686 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome GARD:17871 MONDO:equivalentTo Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome -MONDO:0862687 x-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome GARD:17872 MONDO:equivalentTo X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome -MONDO:0862688 pycr2-related microcephaly-progressive leukoencephalopathy GARD:17873 MONDO:equivalentTo PYCR2-related microcephaly-progressive leukoencephalopathy -MONDO:0862689 familial chilblain lupus GARD:17874 MONDO:equivalentTo Familial Chilblain lupus -MONDO:0862690 usp18 deficiency GARD:17875 MONDO:equivalentTo USP18 deficiency -MONDO:0862691 familial schizencephaly GARD:17876 MONDO:equivalentTo Familial schizencephaly -MONDO:0862692 htra1-related autosomal dominant cerebral small vessel disease GARD:17877 MONDO:equivalentTo HTRA1-related autosomal dominant cerebral small vessel disease -MONDO:0862693 adenylosuccinate synthetase-like 1-related distal myopathy GARD:17878 MONDO:equivalentTo Adenylosuccinate synthetase-like 1-related distal myopathy -MONDO:0862694 acquired schizencephaly GARD:17879 MONDO:equivalentTo Acquired schizencephaly -MONDO:0862695 clcn4-related x-linked intellectual disability syndrome GARD:17880 MONDO:equivalentTo CLCN4-related X-linked intellectual disability syndrome -MONDO:0862696 mff-related encephalopathy due to mitochondrial and peroxisomal fission defect GARD:17881 MONDO:equivalentTo MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect -MONDO:0862697 prenatal-onset spinal muscular atrophy with congenital bone fractures GARD:17882 MONDO:equivalentTo Prenatal-onset spinal muscular atrophy with congenital bone fractures -MONDO:0862698 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome GARD:17883 MONDO:equivalentTo Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome -MONDO:0862699 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome GARD:17884 MONDO:equivalentTo Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome -MONDO:0862700 pierpont syndrome GARD:17885 MONDO:equivalentTo Pierpont syndrome -MONDO:0862701 microcephaly-congenital cataract-psoriasiform dermatitis syndrome GARD:17886 MONDO:equivalentTo Microcephaly-congenital cataract-psoriasiform dermatitis syndrome -MONDO:0862702 female infertility due to oocyte meiotic arrest GARD:17887 MONDO:equivalentTo Female infertility due to oocyte meiotic arrest -MONDO:0862703 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome GARD:17888 MONDO:equivalentTo Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome -MONDO:0862704 split-foot malformation-mesoaxial polydactyly syndrome GARD:17889 MONDO:equivalentTo Split-foot malformation-mesoaxial polydactyly syndrome -MONDO:0862705 14q32 duplication syndrome GARD:17890 MONDO:equivalentTo 14q32 duplication syndrome -MONDO:0862706 autosomal dominant charcot-marie-tooth disease type 2w GARD:17891 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2W -MONDO:0862707 autosomal recessive spastic paraplegia type 76 GARD:17892 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 76 -MONDO:0862708 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome GARD:17893 MONDO:equivalentTo Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome -MONDO:0862709 transketolase deficiency GARD:17894 MONDO:equivalentTo Transketolase deficiency -MONDO:0862710 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome GARD:17895 MONDO:equivalentTo Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome -MONDO:0862711 tbck-related intellectual disability syndrome GARD:17896 MONDO:equivalentTo TBCK-related intellectual disability syndrome -MONDO:0862712 early-onset epilepsy-intellectual disability-brain anomalies syndrome GARD:17897 MONDO:equivalentTo Early-onset epilepsy-intellectual disability-brain anomalies syndrome -MONDO:0862713 telo2-related intellectual disability-neurodevelopmental disorder GARD:17898 MONDO:equivalentTo TELO2-related intellectual disability-neurodevelopmental disorder -MONDO:0862714 ddx41-related hematologic malignancy predisposition syndrome GARD:17899 MONDO:equivalentTo DDX41-related hematologic malignancy predisposition syndrome -MONDO:0862715 distal myopathy, tateyama type GARD:17900 MONDO:equivalentTo Distal myopathy, Tateyama type -MONDO:0862716 vibratory angioedema GARD:17901 MONDO:equivalentTo Vibratory angioedema -MONDO:0862717 rere-related neurodevelopmental syndrome GARD:17902 MONDO:equivalentTo RERE-related neurodevelopmental syndrome -MONDO:0862718 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome GARD:17903 MONDO:equivalentTo Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome -MONDO:0862719 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome GARD:17904 MONDO:equivalentTo DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome -MONDO:0862720 infantile-onset generalized dyskinesia with orofacial involvement GARD:17905 MONDO:equivalentTo Infantile-onset generalized dyskinesia with orofacial involvement -MONDO:0862721 childhood-onset benign chorea with striatal involvement GARD:17906 MONDO:equivalentTo Childhood-onset benign chorea with striatal involvement -MONDO:0862722 squamous cell carcinoma of the hypopharynx GARD:17907 MONDO:equivalentTo Squamous cell carcinoma of the hypopharynx -MONDO:0862723 squamous cell carcinoma of the larynx GARD:17908 MONDO:equivalentTo Squamous cell carcinoma of the larynx -MONDO:0862724 charcot-marie-tooth disease type 2t GARD:17909 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2T -MONDO:0862725 c11orf73-related autosomal recessive hypomyelinating leukodystrophy GARD:17910 MONDO:equivalentTo C11ORF73-related autosomal recessive hypomyelinating leukodystrophy -MONDO:0862726 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome GARD:17911 MONDO:equivalentTo Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome -MONDO:0862727 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome GARD:17912 MONDO:equivalentTo Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome -MONDO:0862728 even-plus syndrome GARD:17913 MONDO:equivalentTo EVEN-plus syndrome -MONDO:0862729 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome GARD:17914 MONDO:equivalentTo Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome -MONDO:0862730 ocular anomalies-axonal neuropathy-developmental delay syndrome GARD:17915 MONDO:equivalentTo Ocular anomalies-axonal neuropathy-developmental delay syndrome -MONDO:0862731 mme-related autosomal dominant charcot marie tooth disease type 2 GARD:17916 MONDO:equivalentTo MME-related autosomal dominant Charcot Marie Tooth disease type 2 -MONDO:0862732 spinocerebellar ataxia type 43 GARD:17917 MONDO:equivalentTo Spinocerebellar ataxia type 43 -MONDO:0862733 childhood-onset basal ganglia degeneration syndrome GARD:17918 MONDO:equivalentTo Childhood-onset basal ganglia degeneration syndrome -MONDO:0862734 short rib-polydactyly syndrome type 5 GARD:17919 MONDO:equivalentTo Short rib-polydactyly syndrome type 5 -MONDO:0862735 16p13.2 microdeletion syndrome GARD:17920 MONDO:equivalentTo 16p13.2 microdeletion syndrome -MONDO:0862736 tall stature-intellectual disability-renal anomalies syndrome GARD:17921 MONDO:equivalentTo Tall stature-intellectual disability-renal anomalies syndrome -MONDO:0862737 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome GARD:17922 MONDO:equivalentTo Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome -MONDO:0862738 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome GARD:17923 MONDO:equivalentTo Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome -MONDO:0862739 microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom GARD:17924 MONDO:equivalentTo Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom -MONDO:0862740 sin3a-related intellectual disability syndrome due to a point mutation GARD:17925 MONDO:equivalentTo SIN3A-related intellectual disability syndrome due to a point mutation -MONDO:0862741 x-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome GARD:17926 MONDO:equivalentTo X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome -MONDO:0862742 squamous cell carcinoma of the nasal cavity and paranasal sinuses GARD:17927 MONDO:equivalentTo Squamous cell carcinoma of the nasal cavity and paranasal sinuses -MONDO:0862743 squamous cell carcinoma of the oropharynx GARD:17928 MONDO:equivalentTo Squamous cell carcinoma of the oropharynx -MONDO:0862744 squamous cell carcinoma of salivary glands GARD:17929 MONDO:equivalentTo Squamous cell carcinoma of salivary glands -MONDO:0862745 severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract GARD:17930 MONDO:equivalentTo Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract -MONDO:0862746 osteosclerotic metaphyseal dysplasia GARD:17931 MONDO:equivalentTo Osteosclerotic metaphyseal dysplasia -MONDO:0862747 squamous cell carcinoma of the oral cavity GARD:17932 MONDO:equivalentTo Squamous cell carcinoma of the oral cavity -MONDO:0862748 squamous cell carcinoma of the lip GARD:17933 MONDO:equivalentTo Squamous cell carcinoma of the lip -MONDO:0862749 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome GARD:17934 MONDO:equivalentTo Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome -MONDO:0862750 stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome GARD:17935 MONDO:equivalentTo STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome -MONDO:0862751 alkaline ceramidase 3 deficiency GARD:17936 MONDO:equivalentTo Alkaline ceramidase 3 deficiency -MONDO:0862752 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome GARD:17937 MONDO:equivalentTo Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome -MONDO:0862753 severe combined immunodeficiency due to lat deficiency GARD:17938 MONDO:equivalentTo Severe combined immunodeficiency due to LAT deficiency -MONDO:0862754 combined immunodeficiency due to moesin deficiency GARD:17939 MONDO:equivalentTo Combined immunodeficiency due to Moesin deficiency -MONDO:0862755 3-methylglutaconic aciduria type 9 GARD:17940 MONDO:equivalentTo 3-methylglutaconic aciduria type 9 -MONDO:0862756 combined immunodeficiency due to gins1 deficiency GARD:17941 MONDO:equivalentTo Combined immunodeficiency due to GINS1 deficiency -MONDO:0862757 early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome GARD:17942 MONDO:equivalentTo Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome -MONDO:0862758 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome GARD:17943 MONDO:equivalentTo Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome -MONDO:0862759 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders GARD:17944 MONDO:equivalentTo Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders -MONDO:0862760 stromme syndrome GARD:17945 MONDO:equivalentTo Stromme syndrome -MONDO:0862761 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction GARD:17946 MONDO:equivalentTo Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction -MONDO:0862762 gabriele-de vries syndrome GARD:17947 MONDO:equivalentTo Gabriele-de Vries syndrome -MONDO:0862763 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome GARD:17948 MONDO:equivalentTo Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome -MONDO:0862764 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome GARD:17949 MONDO:equivalentTo Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome -MONDO:0862765 hyperphenylalaninemia due to dnajc12 deficiency GARD:17950 MONDO:equivalentTo Hyperphenylalaninemia due to DNAJC12 deficiency -MONDO:0862766 intermediate epidermolysis bullosa simplex with cardiomyopathy GARD:17951 MONDO:equivalentTo Intermediate epidermolysis bullosa simplex with cardiomyopathy -MONDO:0862767 autosomal recessive spastic paraplegia type 78 GARD:17952 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 78 -MONDO:0862768 intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome GARD:17953 MONDO:equivalentTo Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome -MONDO:0862769 autosomal recessive anterior segment dysgenesis GARD:17954 MONDO:equivalentTo Autosomal recessive anterior segment dysgenesis -MONDO:0862770 xq25 microduplication syndrome GARD:17955 MONDO:equivalentTo Xq25 microduplication syndrome -MONDO:0862771 proximal myopathy with focal depletion of mitochondria GARD:17956 MONDO:equivalentTo Proximal myopathy with focal depletion of mitochondria -MONDO:0862772 spastic paraplegia-intellectual disability-nystagmus-obesity syndrome GARD:17957 MONDO:equivalentTo Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome -MONDO:0862773 dystonia-parkinsonism-hypermanganesemia syndrome GARD:17958 MONDO:equivalentTo Dystonia-parkinsonism-hypermanganesemia syndrome -MONDO:0862774 autosomal dominant charcot-marie-tooth disease type 2dd GARD:17959 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2DD -MONDO:0862775 plaa-associated neurodevelopmental disorder GARD:17960 MONDO:equivalentTo PLAA-associated neurodevelopmental disorder -MONDO:0862776 congenital vertebral-cardiac-renal anomalies syndrome GARD:17961 MONDO:equivalentTo Congenital vertebral-cardiac-renal anomalies syndrome -MONDO:0862777 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome GARD:17962 MONDO:equivalentTo Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome -MONDO:0862778 severe myopia-generalized joint laxity-short stature syndrome GARD:17963 MONDO:equivalentTo Severe myopia-generalized joint laxity-short stature syndrome -MONDO:0862779 nkx6-2-related autosomal recessive hypomyelinating leukodystrophy GARD:17964 MONDO:equivalentTo NKX6-2-related autosomal recessive hypomyelinating leukodystrophy -MONDO:0862780 non-specific syndromic intellectual disability GARD:17965 MONDO:equivalentTo Non-specific syndromic intellectual disability -MONDO:0862781 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome GARD:17966 MONDO:equivalentTo Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome -MONDO:0862782 hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome GARD:17967 MONDO:equivalentTo Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome -MONDO:0862783 duane retraction syndrome with congenital deafness GARD:17968 MONDO:equivalentTo Duane retraction syndrome with congenital deafness -MONDO:0862784 neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome GARD:17969 MONDO:equivalentTo Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome -MONDO:0862785 intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome GARD:17970 MONDO:equivalentTo Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome -MONDO:0862786 male infertility due to acephalic spermatozoa GARD:17971 MONDO:equivalentTo Male infertility due to acephalic spermatozoa -MONDO:0862787 mixed phenotype acute leukemia GARD:17972 MONDO:equivalentTo Mixed phenotype acute leukemia -MONDO:0862788 familial gpihbp1 deficiency GARD:17973 MONDO:equivalentTo Familial GPIHBP1 deficiency -MONDO:0862789 b3galt6-related spondylodysplastic ehlers-danlos syndrome GARD:17974 MONDO:equivalentTo B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome -MONDO:0862790 classical-like ehlers-danlos syndrome type 2 GARD:17975 MONDO:equivalentTo Classical-like Ehlers-Danlos syndrome type 2 -MONDO:0862791 autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy GARD:17976 MONDO:equivalentTo Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy -MONDO:0862792 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome GARD:17977 MONDO:equivalentTo Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome -MONDO:0862793 combined immunodeficiency due to cd70 deficiency GARD:17978 MONDO:equivalentTo Combined immunodeficiency due to CD70 deficiency -MONDO:0862794 combined immunodeficiency due to itk deficiency GARD:17979 MONDO:equivalentTo Combined immunodeficiency due to ITK deficiency -MONDO:0862795 growth delay-intellectual disability-hepatopathy syndrome GARD:17980 MONDO:equivalentTo Growth delay-intellectual disability-hepatopathy syndrome -MONDO:0862796 combined immunodeficiency due to carmil2 deficiency GARD:17981 MONDO:equivalentTo Combined immunodeficiency due to CARMIL2 deficiency -MONDO:0862797 gnb5-related intellectual disability-cardiac arrhythmia syndrome GARD:17982 MONDO:equivalentTo GNB5-related intellectual disability-cardiac arrhythmia syndrome -MONDO:0862798 auditory neuropathy-optic atrophy syndrome GARD:17983 MONDO:equivalentTo Auditory neuropathy-optic atrophy syndrome -MONDO:0862799 isolated hyperchlorhidrosis GARD:17984 MONDO:equivalentTo Isolated hyperchlorhidrosis -MONDO:0862800 prune1-related neurological syndrome GARD:17985 MONDO:equivalentTo PRUNE1-related neurological syndrome -MONDO:0862801 atypical hemolytic uremic syndrome with complement gene abnormality GARD:17986 MONDO:equivalentTo Atypical hemolytic uremic syndrome with complement gene abnormality -MONDO:0862802 global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome GARD:17987 MONDO:equivalentTo Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome -MONDO:0862803 rnf13-related severe early-onset epileptic encephalopathy GARD:17988 MONDO:equivalentTo RNF13-related severe early-onset epileptic encephalopathy -MONDO:0862804 congenital myopathy with reduced type 2 muscle fibers GARD:17989 MONDO:equivalentTo Congenital myopathy with reduced type 2 muscle fibers -MONDO:0862805 nad(p)hx dehydratase deficiency GARD:17990 MONDO:equivalentTo NAD(P)HX dehydratase deficiency -MONDO:0862806 nad(p)hx epimerase deficiency GARD:17991 MONDO:equivalentTo NAD(P)HX epimerase deficiency -MONDO:0862807 pancreatic agenesis-holoprosencephaly syndrome GARD:17992 MONDO:equivalentTo Pancreatic agenesis-holoprosencephaly syndrome -MONDO:0862808 oculocerebrodental syndrome GARD:17993 MONDO:equivalentTo Oculocerebrodental syndrome -MONDO:0862809 neonatal epileptic encephalopathy due to glutaminase deficiency GARD:17994 MONDO:equivalentTo Neonatal epileptic encephalopathy due to glutaminase deficiency -MONDO:0862810 heme oxygenase-1 deficiency GARD:17995 MONDO:equivalentTo Heme oxygenase-1 deficiency -MONDO:0862811 autosomal recessive extra-oral halitosis GARD:17996 MONDO:equivalentTo Autosomal recessive extra-oral halitosis -MONDO:0862812 anterior maxillary protrusion-strabismus-intellectual disability syndrome GARD:17997 MONDO:equivalentTo Anterior maxillary protrusion-strabismus-intellectual disability syndrome -MONDO:0862813 tmem94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome GARD:17998 MONDO:equivalentTo TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome -MONDO:0862814 combined oxidative phosphorylation defect type 39 GARD:17999 MONDO:equivalentTo Combined oxidative phosphorylation defect type 39 -MONDO:0862815 myh9-related disease GARD:180 MONDO:equivalentTo MYH9-related disease -MONDO:0862816 infantile inflammatory bowel disease with neurological involvement GARD:18000 MONDO:equivalentTo Infantile inflammatory bowel disease with neurological involvement -MONDO:0862817 craniosynostosis-microretrognathia-severe intellectual disability syndrome GARD:18001 MONDO:equivalentTo Craniosynostosis-microretrognathia-severe intellectual disability syndrome -MONDO:0862818 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta GARD:18002 MONDO:equivalentTo Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta -MONDO:0862819 idiopathic steroid-resistant nephrotic syndrome GARD:18003 MONDO:equivalentTo Idiopathic steroid-resistant nephrotic syndrome -MONDO:0862820 multiple mitochondrial dysfunctions syndrome type 6 GARD:18004 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 6 -MONDO:0862821 galactose mutarotase deficiency GARD:18005 MONDO:equivalentTo Galactose mutarotase deficiency -MONDO:0862822 qrsl1-related combined oxidative phosphorylation defect GARD:18006 MONDO:equivalentTo QRSL1-related combined oxidative phosphorylation defect -MONDO:0862823 posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome GARD:18007 MONDO:equivalentTo Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome -MONDO:0862824 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 GARD:18008 MONDO:equivalentTo Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 -MONDO:0862825 brachydactyly type b1 GARD:18009 MONDO:equivalentTo Brachydactyly type B1 -MONDO:0862826 rfvt2-related riboflavin transporter deficiency GARD:18010 MONDO:equivalentTo RFVT2-related riboflavin transporter deficiency -MONDO:0862827 microcephaly-micromelia syndrome GARD:18011 MONDO:equivalentTo Microcephaly-micromelia syndrome -MONDO:0862828 wars2-related combined oxidative phosphorylation defect GARD:18012 MONDO:equivalentTo WARS2-related combined oxidative phosphorylation defect -MONDO:0862829 satb2-associated syndrome due to a pathogenic variant GARD:18013 MONDO:equivalentTo SATB2-associated syndrome due to a pathogenic variant -MONDO:0862830 nlrc4-related familial cold autoinflammatory syndrome GARD:18014 MONDO:equivalentTo NLRC4-related familial cold autoinflammatory syndrome -MONDO:0862831 qrich1-related intellectual disability-chondrodysplasia syndrome GARD:18015 MONDO:equivalentTo QRICH1-related intellectual disability-chondrodysplasia syndrome -MONDO:0862832 spondylometaphyseal dysplasia-corneal dystrophy syndrome GARD:18016 MONDO:equivalentTo Spondylometaphyseal dysplasia-corneal dystrophy syndrome -MONDO:0862833 oculocutaneous albinism type 8 GARD:18017 MONDO:equivalentTo Oculocutaneous albinism type 8 -MONDO:0862834 mthfs-related developmental delay-microcephaly-short stature-epilepsy syndrome GARD:18018 MONDO:equivalentTo MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome -MONDO:0862835 facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome GARD:18019 MONDO:equivalentTo Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome -MONDO:0862836 demodicidosis GARD:1802 MONDO:equivalentTo Demodicidosis -MONDO:0862837 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome GARD:18020 MONDO:equivalentTo Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome -MONDO:0862838 coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome GARD:18021 MONDO:equivalentTo Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome -MONDO:0862839 kiaa1109-related early lethal congenital brain malformations-arthrogryposis syndrome GARD:18022 MONDO:equivalentTo KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome -MONDO:0862840 clcn6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome GARD:18023 MONDO:equivalentTo CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome -MONDO:0862841 oculogastrointestinal-neurodevelopmental syndrome GARD:18024 MONDO:equivalentTo Oculogastrointestinal-neurodevelopmental syndrome -MONDO:0862842 spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-leber congenital amaurosis syndrome GARD:18025 MONDO:equivalentTo Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome -MONDO:0862843 aplastic anemia-intellectual disability-dwarfism syndrome GARD:18026 MONDO:equivalentTo Aplastic anemia-intellectual disability-dwarfism syndrome -MONDO:0862844 en1-related dorsoventral syndrome GARD:18027 MONDO:equivalentTo EN1-related dorsoventral syndrome -MONDO:0862845 parkinsonism with polyneuropathy GARD:18028 MONDO:equivalentTo Parkinsonism with polyneuropathy -MONDO:0862846 pontocerebellar hypoplasia type 11 GARD:18029 MONDO:equivalentTo Pontocerebellar hypoplasia type 11 -MONDO:0862847 pontocerebellar hypoplasia type 12 GARD:18030 MONDO:equivalentTo Pontocerebellar hypoplasia type 12 -MONDO:0862848 pontocerebellar hypoplasia type 13 GARD:18031 MONDO:equivalentTo Pontocerebellar hypoplasia type 13 -MONDO:0862849 pontocerebellar hypoplasia type 14 GARD:18032 MONDO:equivalentTo Pontocerebellar hypoplasia type 14 -MONDO:0862850 spastic paraparesis-cataracts-speech delay syndrome GARD:18033 MONDO:equivalentTo Spastic paraparesis-cataracts-speech delay syndrome -MONDO:0862851 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome GARD:18034 MONDO:equivalentTo Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome -MONDO:0862852 acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate GARD:18035 MONDO:equivalentTo Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate -MONDO:0862853 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation GARD:18036 MONDO:equivalentTo Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation -MONDO:0862854 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the atad3 gene cluster GARD:18037 MONDO:equivalentTo Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster -MONDO:0862855 dent disease type 1 GARD:1804 MONDO:equivalentTo Dent disease type 1 -MONDO:0862856 dentin dysplasia type ii GARD:1806 MONDO:equivalentTo Dentin dysplasia type II -MONDO:0862857 dentin dysplasia type i GARD:1807 MONDO:equivalentTo Dentin dysplasia type I -MONDO:0862858 dentin dysplasia-sclerotic bones syndrome GARD:1808 MONDO:equivalentTo Dentin dysplasia-sclerotic bones syndrome -MONDO:0862859 stargardt disease GARD:181 MONDO:equivalentTo Stargardt disease -MONDO:0862860 radioulnar synostosis-developmental delay-hypotonia syndrome GARD:1810 MONDO:equivalentTo Radioulnar synostosis-developmental delay-hypotonia syndrome -MONDO:0862861 dermatoleukodystrophy GARD:1813 MONDO:equivalentTo Dermatoleukodystrophy -MONDO:0862862 dermatoosteolysis, kirghizian type GARD:1814 MONDO:equivalentTo Dermatoosteolysis, Kirghizian type -MONDO:0862863 dermochondrocorneal dystrophy GARD:1815 MONDO:equivalentTo Dermochondrocorneal dystrophy -MONDO:0862864 dermoodontodysplasia GARD:1816 MONDO:equivalentTo Dermoodontodysplasia -MONDO:0862865 desbuquois syndrome GARD:1818 MONDO:equivalentTo Desbuquois syndrome -MONDO:0862866 best vitelliform macular dystrophy GARD:182 MONDO:equivalentTo Best vitelliform macular dystrophy -MONDO:0862867 desmoid tumor GARD:1820 MONDO:equivalentTo Desmoid tumor -MONDO:0862868 familial developmental dysphasia GARD:1823 MONDO:equivalentTo Familial developmental dysphasia -MONDO:0862869 dextrocardia GARD:1827 MONDO:equivalentTo Dextrocardia -MONDO:0862870 transient neonatal diabetes mellitus GARD:1839 MONDO:equivalentTo Transient neonatal diabetes mellitus -MONDO:0862871 yellow nail syndrome GARD:184 MONDO:equivalentTo Yellow nail syndrome -MONDO:0862872 immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome GARD:1850 MONDO:equivalentTo Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome -MONDO:0862873 split cord malformation type i GARD:1851 MONDO:equivalentTo Split cord malformation type I -MONDO:0862874 dicarboxylic aminoaciduria GARD:1855 MONDO:equivalentTo Dicarboxylic aminoaciduria -MONDO:0862875 diethylstilbestrol syndrome GARD:1859 MONDO:equivalentTo Diethylstilbestrol syndrome -MONDO:0862876 diffuse neonatal hemangiomatosis GARD:1861 MONDO:equivalentTo Diffuse neonatal hemangiomatosis -MONDO:0862877 familial dilated cardiomyopathy with conduction defect due to lmna mutation GARD:18615 MONDO:equivalentTo Familial dilated cardiomyopathy with conduction defect due to LMNA mutation -MONDO:0862878 non-epidermolytic palmoplantar keratoderma GARD:1862 MONDO:equivalentTo Non-epidermolytic palmoplantar keratoderma -MONDO:0862879 progressive symmetric erythrokeratodermia GARD:18639 MONDO:equivalentTo Progressive symmetric erythrokeratodermia -MONDO:0862880 x-linked non-syndromic intellectual disability GARD:18640 MONDO:equivalentTo X-linked non-syndromic intellectual disability -MONDO:0862881 generalized epilepsy with febrile seizures-plus GARD:18641 MONDO:equivalentTo Generalized epilepsy with febrile seizures-plus -MONDO:0862882 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome GARD:18642 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome -MONDO:0862883 autosomal recessive non-syndromic intellectual disability GARD:18643 MONDO:equivalentTo Autosomal recessive non-syndromic intellectual disability -MONDO:0862884 autosomal recessive non-syndromic sensorineural deafness type dfnb GARD:18644 MONDO:equivalentTo Autosomal recessive non-syndromic sensorineural deafness type DFNB -MONDO:0862885 juvenile nephronophthisis GARD:18645 MONDO:equivalentTo Juvenile nephronophthisis -MONDO:0862886 overgrowth-macrocephaly-facial dysmorphism syndrome GARD:18646 MONDO:equivalentTo Overgrowth-macrocephaly-facial dysmorphism syndrome -MONDO:0862887 hereditary persistence of alpha-fetoprotein GARD:18647 MONDO:equivalentTo Hereditary persistence of alpha-fetoprotein -MONDO:0862888 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome GARD:18648 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome -MONDO:0862889 isolated atp synthase deficiency GARD:18649 MONDO:equivalentTo Isolated ATP synthase deficiency -MONDO:0862890 autosomal recessive nail dysplasia GARD:18650 MONDO:equivalentTo Autosomal recessive nail dysplasia -MONDO:0862891 familial benign flecked retina GARD:18651 MONDO:equivalentTo Familial benign flecked retina -MONDO:0862892 isolated sedoheptulokinase deficiency GARD:18652 MONDO:equivalentTo Isolated sedoheptulokinase deficiency -MONDO:0862893 dnajb2-related charcot-marie-tooth disease type 2 GARD:18653 MONDO:equivalentTo DNAJB2-related Charcot-Marie-Tooth disease type 2 -MONDO:0862894 lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome GARD:18654 MONDO:equivalentTo Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome -MONDO:0862895 microcephaly-short stature-limb abnormalities syndrome GARD:18655 MONDO:equivalentTo Microcephaly-short stature-limb abnormalities syndrome -MONDO:0862896 amoebiasis due to entamoeba histolytica GARD:18675 MONDO:equivalentTo Amoebiasis due to Entamoeba histolytica -MONDO:0862897 amyloidosis GARD:18676 MONDO:equivalentTo Amyloidosis -MONDO:0862898 juvenile idiopathic arthritis GARD:18677 MONDO:equivalentTo Juvenile idiopathic arthritis -MONDO:0862899 atresia of urethra GARD:18678 MONDO:equivalentTo Atresia of urethra -MONDO:0862900 non-rhizomelic chondrodysplasia punctata GARD:18679 MONDO:equivalentTo Non-rhizomelic chondrodysplasia punctata -MONDO:0862901 scimitar syndrome GARD:18680 MONDO:equivalentTo Scimitar syndrome -MONDO:0862902 isolated corpus callosum agenesis GARD:18681 MONDO:equivalentTo Isolated corpus callosum agenesis -MONDO:0862903 neonatal diabetes mellitus GARD:18682 MONDO:equivalentTo Neonatal diabetes mellitus -MONDO:0862904 trisomy 9p GARD:18683 MONDO:equivalentTo Trisomy 9p -MONDO:0862905 digestive duplication GARD:18684 MONDO:equivalentTo Digestive duplication -MONDO:0862906 spondylometaphyseal dysplasia GARD:18685 MONDO:equivalentTo Spondylometaphyseal dysplasia -MONDO:0862907 duchenne and becker muscular dystrophy GARD:18686 MONDO:equivalentTo Duchenne and Becker muscular dystrophy -MONDO:0862908 congenital herpes simplex virus infection GARD:18687 MONDO:equivalentTo Congenital herpes simplex virus infection -MONDO:0862909 reflex epilepsy GARD:18688 MONDO:equivalentTo Reflex epilepsy -MONDO:0862910 hemorrhagic fever-renal syndrome GARD:18689 MONDO:equivalentTo Hemorrhagic fever-renal syndrome -MONDO:0862911 arbovirus fever GARD:18690 MONDO:equivalentTo Arbovirus fever -MONDO:0862912 glycogen storage disease due to phosphorylase kinase deficiency GARD:18691 MONDO:equivalentTo Glycogen storage disease due to phosphorylase kinase deficiency -MONDO:0862913 histoplasmosis GARD:18692 MONDO:equivalentTo Histoplasmosis -MONDO:0862914 familial keratoacanthoma GARD:18693 MONDO:equivalentTo Familial keratoacanthoma -MONDO:0862915 keratosis pilaris atrophicans GARD:18694 MONDO:equivalentTo Keratosis pilaris atrophicans -MONDO:0862916 systemic lupus erythematosus GARD:18695 MONDO:equivalentTo Systemic lupus erythematosus -MONDO:0862917 toxic epidermal necrolysis GARD:18696 MONDO:equivalentTo Toxic epidermal necrolysis -MONDO:0862918 primary cutaneous cd30+ t-cell lymphoproliferative disease GARD:18697 MONDO:equivalentTo Primary cutaneous CD30+ T-cell lymphoproliferative disease -MONDO:0862919 primary cutaneous lymphoma GARD:18698 MONDO:equivalentTo Primary cutaneous lymphoma -MONDO:0862920 distal myopathy GARD:18699 MONDO:equivalentTo Distal myopathy -MONDO:0862921 congenital primary megaureter GARD:18700 MONDO:equivalentTo Congenital primary megaureter -MONDO:0862922 non-histaminic angioedema GARD:18701 MONDO:equivalentTo Non-histaminic angioedema -MONDO:0862923 plague GARD:18702 MONDO:equivalentTo Plague -MONDO:0862924 pili bifurcati GARD:18703 MONDO:equivalentTo Pili bifurcati -MONDO:0862925 rare form of salmonellosis GARD:18704 MONDO:equivalentTo Rare form of salmonellosis -MONDO:0862926 scleroderma GARD:18705 MONDO:equivalentTo Scleroderma -MONDO:0862927 congenital cervical spinal stenosis GARD:18706 MONDO:equivalentTo Congenital cervical spinal stenosis -MONDO:0862928 primitive portal vein thrombosis GARD:18707 MONDO:equivalentTo Primitive portal vein thrombosis -MONDO:0862929 congenital toxoplasmosis GARD:18708 MONDO:equivalentTo Congenital toxoplasmosis -MONDO:0862930 primary adult heart tumor GARD:18709 MONDO:equivalentTo Primary adult heart tumor -MONDO:0862931 primary pediatric heart tumor GARD:18710 MONDO:equivalentTo Primary pediatric heart tumor -MONDO:0862932 extragonadal teratoma GARD:18711 MONDO:equivalentTo Extragonadal teratoma -MONDO:0862933 absence of the pulmonary artery GARD:18712 MONDO:equivalentTo Absence of the pulmonary artery -MONDO:0862934 alopecia antibody deficiency GARD:18713 MONDO:equivalentTo Alopecia antibody deficiency -MONDO:0862935 sideroblastic anemia GARD:18714 MONDO:equivalentTo Sideroblastic anemia -MONDO:0862936 isolated lissencephaly type 1 without known genetic defects GARD:18715 MONDO:equivalentTo Isolated lissencephaly type 1 without known genetic defects -MONDO:0862937 radial deficiency-tibial hypoplasia syndrome GARD:18716 MONDO:equivalentTo Radial deficiency-tibial hypoplasia syndrome -MONDO:0862938 abnormal origin of the pulmonary artery GARD:18717 MONDO:equivalentTo Abnormal origin of the pulmonary artery -MONDO:0862939 autosomal recessive cerebellar ataxia GARD:18718 MONDO:equivalentTo Autosomal recessive cerebellar ataxia -MONDO:0862940 mitochondrial dna-related cardiomyopathy and hearing loss GARD:18719 MONDO:equivalentTo Mitochondrial DNA-related cardiomyopathy and hearing loss -MONDO:0862941 diphallia GARD:1872 MONDO:equivalentTo Diphallia -MONDO:0862942 isolated cerebellar agenesis GARD:18720 MONDO:equivalentTo Isolated cerebellar agenesis -MONDO:0862943 paroxysmal dyskinesia GARD:18721 MONDO:equivalentTo Paroxysmal dyskinesia -MONDO:0862944 autosomal dominant coarctation of aorta GARD:18722 MONDO:equivalentTo Autosomal dominant coarctation of aorta -MONDO:0862945 atypical coarctation of aorta GARD:18723 MONDO:equivalentTo Atypical coarctation of aorta -MONDO:0862946 criss-cross heart GARD:18724 MONDO:equivalentTo Criss-cross heart -MONDO:0862947 univentricular heart GARD:18725 MONDO:equivalentTo Univentricular heart -MONDO:0862948 short rib-polydactyly syndrome GARD:18726 MONDO:equivalentTo Short rib-polydactyly syndrome -MONDO:0862949 thin ribs-tubular bones-dysmorphism syndrome GARD:18727 MONDO:equivalentTo Thin ribs-tubular bones-dysmorphism syndrome -MONDO:0862950 benign focal seizures of adolescence GARD:18728 MONDO:equivalentTo Benign focal seizures of adolescence -MONDO:0862951 non-distal monosomy 10q GARD:18729 MONDO:equivalentTo Non-distal monosomy 10q -MONDO:0862952 deletion 5q35 GARD:18730 MONDO:equivalentTo Deletion 5q35 -MONDO:0862953 distal monosomy 7q36 GARD:18731 MONDO:equivalentTo Distal monosomy 7q36 -MONDO:0862954 distal monosomy 9p GARD:18732 MONDO:equivalentTo Distal monosomy 9p -MONDO:0862955 xp22.3 microdeletion syndrome GARD:18733 MONDO:equivalentTo Xp22.3 microdeletion syndrome -MONDO:0862956 sporadic fetal brain disruption sequence GARD:18734 MONDO:equivalentTo Sporadic fetal brain disruption sequence -MONDO:0862957 familial idiopathic dilatation of the right atrium GARD:18735 MONDO:equivalentTo Familial idiopathic dilatation of the right atrium -MONDO:0862958 mosaic trisomy 1 GARD:18736 MONDO:equivalentTo Mosaic trisomy 1 -MONDO:0862959 non-distal trisomy 10q GARD:18737 MONDO:equivalentTo Non-distal trisomy 10q -MONDO:0862960 non-distal trisomy 13q GARD:18738 MONDO:equivalentTo Non-distal trisomy 13q -MONDO:0862961 distal trisomy 14q GARD:18739 MONDO:equivalentTo Distal trisomy 14q -MONDO:0862962 hemolytic anemia due to diphosphoglycerate mutase deficiency GARD:1874 MONDO:equivalentTo Hemolytic anemia due to diphosphoglycerate mutase deficiency -MONDO:0862963 distal trisomy 15q GARD:18740 MONDO:equivalentTo Distal trisomy 15q -MONDO:0862964 mosaic trisomy 16 GARD:18741 MONDO:equivalentTo Mosaic trisomy 16 -MONDO:0862965 distal trisomy 18q GARD:18742 MONDO:equivalentTo Distal trisomy 18q -MONDO:0862966 distal trisomy 19q GARD:18743 MONDO:equivalentTo Distal trisomy 19q -MONDO:0862967 mosaic trisomy 20 GARD:18744 MONDO:equivalentTo Mosaic trisomy 20 -MONDO:0862968 distal trisomy 6p GARD:18745 MONDO:equivalentTo Distal trisomy 6p -MONDO:0862969 fibular dimelia-diplopodia syndrome GARD:18746 MONDO:equivalentTo Fibular dimelia-diplopodia syndrome -MONDO:0862970 45,x/46,xy mixed gonadal dysgenesis GARD:18747 MONDO:equivalentTo 45,X/46,XY mixed gonadal dysgenesis -MONDO:0862971 multicystic dysplastic kidney GARD:18748 MONDO:equivalentTo Multicystic dysplastic kidney -MONDO:0862972 focal, segmental or multifocal dystonia GARD:18749 MONDO:equivalentTo Focal, segmental or multifocal dystonia -MONDO:0862973 diphtheria GARD:1875 MONDO:equivalentTo Diphtheria -MONDO:0862974 fetal trimethadione syndrome GARD:18750 MONDO:equivalentTo Fetal trimethadione syndrome -MONDO:0862975 toluene embryopathy GARD:18751 MONDO:equivalentTo Toluene embryopathy -MONDO:0862976 rasmussen subacute encephalitis GARD:18752 MONDO:equivalentTo Rasmussen subacute encephalitis -MONDO:0862977 frontal encephalocele GARD:18753 MONDO:equivalentTo Frontal encephalocele -MONDO:0862978 cleft lip with or without cleft palate GARD:18754 MONDO:equivalentTo Cleft lip with or without cleft palate -MONDO:0862979 cleft lip/palate-deafness-sacral lipoma syndrome GARD:18755 MONDO:equivalentTo Cleft lip/palate-deafness-sacral lipoma syndrome -MONDO:0862980 median cleft lip/mandibule GARD:18756 MONDO:equivalentTo Median cleft lip/mandibule -MONDO:0862981 filariasis GARD:18757 MONDO:equivalentTo Filariasis -MONDO:0862982 congenital systemic arteriovenous fistula GARD:18758 MONDO:equivalentTo Congenital systemic arteriovenous fistula -MONDO:0862983 progressive non-infectious anterior vertebral fusion GARD:18759 MONDO:equivalentTo Progressive non-infectious anterior vertebral fusion -MONDO:0862984 diprosopus GARD:1876 MONDO:equivalentTo Diprosopus -MONDO:0862985 dysmorphism-pectus carinatum-joint laxity syndrome GARD:18760 MONDO:equivalentTo Dysmorphism-pectus carinatum-joint laxity syndrome -MONDO:0862986 hemimelia GARD:18761 MONDO:equivalentTo Hemimelia -MONDO:0862987 craniosynostosis, herrmann-opitz type GARD:18762 MONDO:equivalentTo Craniosynostosis, Herrmann-Opitz type -MONDO:0862988 hypotrichosis-intellectual disability, lopes type GARD:18763 MONDO:equivalentTo Hypotrichosis-intellectual disability, Lopes type -MONDO:0862989 dysmorphism-short stature-deafness-disorder of sex development syndrome GARD:18764 MONDO:equivalentTo Dysmorphism-short stature-deafness-disorder of sex development syndrome -MONDO:0862990 isotretinoin syndrome GARD:18765 MONDO:equivalentTo Isotretinoin syndrome -MONDO:0862991 epidermolysis bullosa simplex with anodontia/hypodontia GARD:18766 MONDO:equivalentTo Epidermolysis bullosa simplex with anodontia/hypodontia -MONDO:0862992 kallmann syndrome-heart disease syndrome GARD:18767 MONDO:equivalentTo Kallmann syndrome-heart disease syndrome -MONDO:0862993 isolated punctate palmoplantar keratoderma GARD:18768 MONDO:equivalentTo Isolated punctate palmoplantar keratoderma -MONDO:0862994 congenital primary lymphedema without systemic or visceral involvement GARD:18769 MONDO:equivalentTo Congenital primary lymphedema without systemic or visceral involvement -MONDO:0862995 primary pulmonary lymphoma GARD:18770 MONDO:equivalentTo Primary pulmonary lymphoma -MONDO:0862996 mitochondrial oxidative phosphorylation disorder due to nuclear dna anomalies GARD:18771 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0862997 congenital pulmonary airway malformation GARD:18772 MONDO:equivalentTo Congenital pulmonary airway malformation -MONDO:0862998 lower limb malformation-hypospadias syndrome GARD:18773 MONDO:equivalentTo Lower limb malformation-hypospadias syndrome -MONDO:0862999 microcephaly-seizures-intellectual disability-heart disease syndrome GARD:18774 MONDO:equivalentTo Microcephaly-seizures-intellectual disability-heart disease syndrome -MONDO:0863000 myalgia-eosinophilia syndrome associated with tryptophan GARD:18775 MONDO:equivalentTo Myalgia-eosinophilia syndrome associated with tryptophan -MONDO:0863001 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome GARD:18776 MONDO:equivalentTo Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome -MONDO:0863002 adult familial nephronophthisis-spastic quadriparesia syndrome GARD:18777 MONDO:equivalentTo Adult familial nephronophthisis-spastic quadriparesia syndrome -MONDO:0863003 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome GARD:18778 MONDO:equivalentTo Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome -MONDO:0863004 congenital pericardium anomaly GARD:18779 MONDO:equivalentTo Congenital pericardium anomaly -MONDO:0863005 pericardial and diaphragmatic defect GARD:18780 MONDO:equivalentTo Pericardial and diaphragmatic defect -MONDO:0863006 hereditary acrokeratotic poikiloderma GARD:18781 MONDO:equivalentTo Hereditary acrokeratotic poikiloderma -MONDO:0863007 46,xx disorder of sex development-anorectal anomalies syndrome GARD:18782 MONDO:equivalentTo 46,XX disorder of sex development-anorectal anomalies syndrome -MONDO:0863008 46,xx disorder of sex development GARD:18783 MONDO:equivalentTo 46,XX disorder of sex development -MONDO:0863009 mirror polydactyly-vertebral segmentation-limbs defects syndrome GARD:18784 MONDO:equivalentTo Mirror polydactyly-vertebral segmentation-limbs defects syndrome -MONDO:0863010 congenital systemic veins anomaly GARD:18785 MONDO:equivalentTo Congenital systemic veins anomaly -MONDO:0863011 congenital aortic valve stenosis GARD:18786 MONDO:equivalentTo Congenital aortic valve stenosis -MONDO:0863012 multiple sclerosis-ichthyosis-factor viii deficiency syndrome GARD:18787 MONDO:equivalentTo Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome -MONDO:0863013 hearing loss-familial salivary gland insensitivity to aldosterone syndrome GARD:18788 MONDO:equivalentTo Hearing loss-familial salivary gland insensitivity to aldosterone syndrome -MONDO:0863014 central nervous system calcification-deafness-tubular acidosis-anemia syndrome GARD:18789 MONDO:equivalentTo Central nervous system calcification-deafness-tubular acidosis-anemia syndrome -MONDO:0863015 disorder of plasmalogens biosynthesis GARD:18790 MONDO:equivalentTo Disorder of plasmalogens biosynthesis -MONDO:0863016 telecanthus-hypertelorism-strabismus-pes cavus syndrome GARD:18791 MONDO:equivalentTo Telecanthus-hypertelorism-strabismus-pes cavus syndrome -MONDO:0863017 tetrasomy 5p GARD:18792 MONDO:equivalentTo Tetrasomy 5p -MONDO:0863018 toxocariasis GARD:18793 MONDO:equivalentTo Toxocariasis -MONDO:0863019 distal trisomy 17q GARD:18794 MONDO:equivalentTo Distal trisomy 17q -MONDO:0863020 american trypanosomiasis GARD:18795 MONDO:equivalentTo American trypanosomiasis -MONDO:0863021 neural tube defect GARD:18796 MONDO:equivalentTo Neural tube defect -MONDO:0863022 germ cell tumor GARD:18797 MONDO:equivalentTo Germ cell tumor -MONDO:0863023 aorto-ventricular tunnel GARD:18798 MONDO:equivalentTo Aorto-ventricular tunnel -MONDO:0863024 protein s acquired deficiency GARD:18799 MONDO:equivalentTo Protein S acquired deficiency -MONDO:0863025 oral erosive lichen GARD:18800 MONDO:equivalentTo Oral erosive lichen -MONDO:0863026 hypoalphalipoproteinemia GARD:18801 MONDO:equivalentTo Hypoalphalipoproteinemia -MONDO:0863027 hypobetalipoproteinemia GARD:18802 MONDO:equivalentTo Hypobetalipoproteinemia -MONDO:0863028 colchicine poisoning GARD:18803 MONDO:equivalentTo Colchicine poisoning -MONDO:0863029 methanol poisoning GARD:18804 MONDO:equivalentTo Methanol poisoning -MONDO:0863030 ethylene glycol poisoning GARD:18805 MONDO:equivalentTo Ethylene glycol poisoning -MONDO:0863031 paraquat poisoning GARD:18806 MONDO:equivalentTo Paraquat poisoning -MONDO:0863032 digitalis poisoning GARD:18807 MONDO:equivalentTo Digitalis poisoning -MONDO:0863033 bullous lichen planus GARD:18808 MONDO:equivalentTo Bullous lichen planus -MONDO:0863034 meningococcal meningitis GARD:18809 MONDO:equivalentTo Meningococcal meningitis -MONDO:0863035 corneal dystrophy GARD:18810 MONDO:equivalentTo Corneal dystrophy -MONDO:0863036 severe disseminated cytomegalovirus infection in immunocompetent patients GARD:18811 MONDO:equivalentTo Severe disseminated cytomegalovirus infection in immunocompetent patients -MONDO:0863037 fulminant viral hepatitis GARD:18812 MONDO:equivalentTo Fulminant viral hepatitis -MONDO:0863038 epidermal nevus syndrome GARD:18813 MONDO:equivalentTo Epidermal nevus syndrome -MONDO:0863039 mitochondrial disorder due to a defect in mitochondrial protein synthesis GARD:18814 MONDO:equivalentTo Mitochondrial disorder due to a defect in mitochondrial protein synthesis -MONDO:0863040 neurometabolic disorder due to serine deficiency GARD:18815 MONDO:equivalentTo Neurometabolic disorder due to serine deficiency -MONDO:0863041 malignant sex cord stromal tumor of ovary GARD:18816 MONDO:equivalentTo Malignant sex cord stromal tumor of ovary -MONDO:0863042 acute opioid poisoning GARD:18817 MONDO:equivalentTo Acute opioid poisoning -MONDO:0863043 polymicrogyria GARD:18818 MONDO:equivalentTo Polymicrogyria -MONDO:0863044 staphylococcal scarlet fever GARD:18819 MONDO:equivalentTo Staphylococcal scarlet fever -MONDO:0863045 bullous impetigo GARD:18820 MONDO:equivalentTo Bullous impetigo -MONDO:0863046 staphylococcal necrotizing pneumonia GARD:18821 MONDO:equivalentTo Staphylococcal necrotizing pneumonia -MONDO:0863047 gastric linitis plastica GARD:18822 MONDO:equivalentTo Gastric linitis plastica -MONDO:0863048 familial cervical artery dissection GARD:18823 MONDO:equivalentTo Familial cervical artery dissection -MONDO:0863049 autoimmune hypoparathyroidism GARD:18824 MONDO:equivalentTo Autoimmune hypoparathyroidism -MONDO:0863050 interstitial cystitis GARD:18825 MONDO:equivalentTo Interstitial cystitis -MONDO:0863051 acquired kinky hair syndrome GARD:18826 MONDO:equivalentTo Acquired kinky hair syndrome -MONDO:0863052 acitretin/etretinate embryopathy GARD:18827 MONDO:equivalentTo Acitretin/etretinate embryopathy -MONDO:0863053 serotonin syndrome GARD:18828 MONDO:equivalentTo Serotonin syndrome -MONDO:0863054 acute tricyclic antidepressant poisoning GARD:18829 MONDO:equivalentTo Acute tricyclic antidepressant poisoning -MONDO:0863055 dissecting cellulitis of the scalp GARD:1883 MONDO:equivalentTo Dissecting cellulitis of the scalp -MONDO:0863056 acute poisoning by drugs with membrane-stabilizing effect GARD:18830 MONDO:equivalentTo Acute poisoning by drugs with membrane-stabilizing effect -MONDO:0863057 idiopathic neonatal atrial flutter GARD:18831 MONDO:equivalentTo Idiopathic neonatal atrial flutter -MONDO:0863058 incessant infant ventricular tachycardia GARD:18832 MONDO:equivalentTo Incessant infant ventricular tachycardia -MONDO:0863059 superficial pemphigus GARD:18833 MONDO:equivalentTo Superficial pemphigus -MONDO:0863060 linear iga dermatosis GARD:18834 MONDO:equivalentTo Linear IgA dermatosis -MONDO:0863061 postinfectious vasculitis GARD:18835 MONDO:equivalentTo Postinfectious vasculitis -MONDO:0863062 embryonal carcinoma of the central nervous system GARD:18836 MONDO:equivalentTo Embryonal carcinoma of the central nervous system -MONDO:0863063 focal myositis GARD:18837 MONDO:equivalentTo Focal myositis -MONDO:0863064 acquired purpura fulminans GARD:18838 MONDO:equivalentTo Acquired purpura fulminans -MONDO:0863065 lichen amyloidosis GARD:18839 MONDO:equivalentTo Lichen amyloidosis -MONDO:0863066 microlissencephaly-micromelia syndrome GARD:18840 MONDO:equivalentTo Microlissencephaly-micromelia syndrome -MONDO:0863067 zellweger-like syndrome without peroxisomal anomalies GARD:18841 MONDO:equivalentTo Zellweger-like syndrome without peroxisomal anomalies -MONDO:0863068 duane anomaly-myopathy-scoliosis syndrome GARD:18842 MONDO:equivalentTo Duane anomaly-myopathy-scoliosis syndrome -MONDO:0863069 anterior cutaneous nerve entrapment syndrome GARD:18843 MONDO:equivalentTo Anterior cutaneous nerve entrapment syndrome -MONDO:0863070 vasculitis GARD:18844 MONDO:equivalentTo Vasculitis -MONDO:0863071 orbital leiomyoma GARD:18845 MONDO:equivalentTo Orbital leiomyoma -MONDO:0863072 posterior cortical atrophy GARD:18846 MONDO:equivalentTo Posterior cortical atrophy -MONDO:0863073 hepatocellular adenoma GARD:18847 MONDO:equivalentTo Hepatocellular adenoma -MONDO:0863074 sarcocystosis GARD:18848 MONDO:equivalentTo Sarcocystosis -MONDO:0863075 pneumococcal meningitis GARD:18849 MONDO:equivalentTo Pneumococcal meningitis -MONDO:0863076 carcinoma of gallbladder and extrahepatic biliary tract GARD:18850 MONDO:equivalentTo Carcinoma of gallbladder and extrahepatic biliary tract -MONDO:0863077 human prion disease GARD:18851 MONDO:equivalentTo Human prion disease -MONDO:0863078 cirrhotic cardiomyopathy GARD:18852 MONDO:equivalentTo Cirrhotic cardiomyopathy -MONDO:0863079 mazabraud syndrome GARD:18853 MONDO:equivalentTo Mazabraud syndrome -MONDO:0863080 osteoblastoma GARD:18854 MONDO:equivalentTo Osteoblastoma -MONDO:0863081 rhombencephalosynapsis GARD:18855 MONDO:equivalentTo Rhombencephalosynapsis -MONDO:0863082 argyria GARD:18856 MONDO:equivalentTo Argyria -MONDO:0863083 rare epithelial tumor of stomach GARD:18857 MONDO:equivalentTo Rare epithelial tumor of stomach -MONDO:0863084 paraneoplastic pemphigus GARD:18858 MONDO:equivalentTo Paraneoplastic pemphigus -MONDO:0863085 acrofacial dysostosis, kennedy-teebi type GARD:18859 MONDO:equivalentTo Acrofacial dysostosis, Kennedy-Teebi type -MONDO:0863086 late-onset distal myopathy, markesbery-griggs type GARD:1886 MONDO:equivalentTo Late-onset distal myopathy, Markesbery-Griggs type -MONDO:0863087 benign idiopathic neonatal seizures GARD:18860 MONDO:equivalentTo Benign idiopathic neonatal seizures -MONDO:0863088 oroya fever GARD:18861 MONDO:equivalentTo Oroya fever -MONDO:0863089 trench fever GARD:18862 MONDO:equivalentTo Trench fever -MONDO:0863090 granulomatous mastitis GARD:18863 MONDO:equivalentTo Granulomatous mastitis -MONDO:0863091 pulmonary blastoma GARD:18864 MONDO:equivalentTo Pulmonary blastoma -MONDO:0863092 hepatoportal sclerosis GARD:18865 MONDO:equivalentTo Hepatoportal sclerosis -MONDO:0863093 igg4-related thyroid disease GARD:18866 MONDO:equivalentTo IgG4-related thyroid disease -MONDO:0863094 vaginal atresia GARD:18867 MONDO:equivalentTo Vaginal atresia -MONDO:0863095 short fifth metacarpals-insulin resistance syndrome GARD:18868 MONDO:equivalentTo Short fifth metacarpals-insulin resistance syndrome -MONDO:0863096 sensorineural hearing loss-early graying-essential tremor syndrome GARD:18869 MONDO:equivalentTo Sensorineural hearing loss-early graying-essential tremor syndrome -MONDO:0863097 vocal cord and pharyngeal distal myopathy GARD:1887 MONDO:equivalentTo Vocal cord and pharyngeal distal myopathy -MONDO:0863098 mast cell sarcoma GARD:18870 MONDO:equivalentTo Mast cell sarcoma -MONDO:0863099 extracutaneous mastocytoma GARD:18871 MONDO:equivalentTo Extracutaneous mastocytoma -MONDO:0863100 segmental odontomaxillary dysplasia GARD:18872 MONDO:equivalentTo Segmental odontomaxillary dysplasia -MONDO:0863101 rare hemorrhagic disorder due to a constitutional coagulation factors defect GARD:18873 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional coagulation factors defect -MONDO:0863102 rare chromosomal anomaly GARD:18874 MONDO:equivalentTo Rare chromosomal anomaly -MONDO:0863103 rare genetic tumor GARD:18875 MONDO:equivalentTo Rare genetic tumor -MONDO:0863104 multiple congenital anomalies/dysmorphic syndrome GARD:18876 MONDO:equivalentTo Multiple congenital anomalies/dysmorphic syndrome -MONDO:0863105 rare genetic skin disease GARD:18877 MONDO:equivalentTo Rare genetic skin disease -MONDO:0863106 tumor of hematopoietic and lymphoid tissues GARD:18878 MONDO:equivalentTo Tumor of hematopoietic and lymphoid tissues -MONDO:0863107 rare sleep disorder GARD:18879 MONDO:equivalentTo Rare sleep disorder -MONDO:0863108 rare deafness GARD:18880 MONDO:equivalentTo Rare deafness -MONDO:0863109 rare vascular disease GARD:18881 MONDO:equivalentTo Rare vascular disease -MONDO:0863110 rare dystonia GARD:18882 MONDO:equivalentTo Rare dystonia -MONDO:0863111 hemoglobinopathy GARD:18883 MONDO:equivalentTo Hemoglobinopathy -MONDO:0863112 lysosomal disease GARD:18884 MONDO:equivalentTo Lysosomal disease -MONDO:0863113 peroxisomal disease GARD:18885 MONDO:equivalentTo Peroxisomal disease -MONDO:0863114 congenital limb malformation GARD:18886 MONDO:equivalentTo Congenital limb malformation -MONDO:0863115 mitochondrial disease GARD:18887 MONDO:equivalentTo Mitochondrial disease -MONDO:0863116 neuromuscular disease GARD:18888 MONDO:equivalentTo Neuromuscular disease -MONDO:0863117 rare constitutional aplastic anemia GARD:18889 MONDO:equivalentTo Rare constitutional aplastic anemia -MONDO:0863118 neurometabolic disease GARD:18890 MONDO:equivalentTo Neurometabolic disease -MONDO:0863119 rare parkinsonian disorder GARD:18891 MONDO:equivalentTo Rare parkinsonian disorder -MONDO:0863120 rare bone tumor GARD:18892 MONDO:equivalentTo Rare bone tumor -MONDO:0863121 rare parathyroid disease and phosphocalcic metabolism anomaly GARD:18893 MONDO:equivalentTo Rare parathyroid disease and phosphocalcic metabolism anomaly -MONDO:0863122 vascular anomaly or angioma GARD:18894 MONDO:equivalentTo Vascular anomaly or angioma -MONDO:0863123 dysostosis with brachydactyly GARD:18895 MONDO:equivalentTo Dysostosis with brachydactyly -MONDO:0863124 congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization GARD:18896 MONDO:equivalentTo Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization -MONDO:0863125 bilateral acute depigmentation of the iris GARD:18897 MONDO:equivalentTo Bilateral acute depigmentation of the iris -MONDO:0863126 circumscribed palmoplantar hypokeratosis GARD:18898 MONDO:equivalentTo Circumscribed palmoplantar hypokeratosis -MONDO:0863127 warty dyskeratoma GARD:18899 MONDO:equivalentTo Warty dyskeratoma -MONDO:0863128 radiation proctitis GARD:18900 MONDO:equivalentTo Radiation proctitis -MONDO:0863129 squamous cell carcinoma of the esophagus GARD:18901 MONDO:equivalentTo Squamous cell carcinoma of the esophagus -MONDO:0863130 adult acute respiratory distress syndrome GARD:18902 MONDO:equivalentTo Adult acute respiratory distress syndrome -MONDO:0863131 congenital epstein-barr virus infection GARD:18903 MONDO:equivalentTo Congenital Epstein-Barr virus infection -MONDO:0863132 rare pulmonary hypertension GARD:18904 MONDO:equivalentTo Rare pulmonary hypertension -MONDO:0863133 rare hemorrhagic disorder due to a constitutional platelet anomaly GARD:18905 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional platelet anomaly -MONDO:0863134 autoimmune thrombocytopenia GARD:18906 MONDO:equivalentTo Autoimmune thrombocytopenia -MONDO:0863135 rare soft tissue tumor GARD:18907 MONDO:equivalentTo Rare soft tissue tumor -MONDO:0863136 retinal capillary malformation GARD:18908 MONDO:equivalentTo Retinal capillary malformation -MONDO:0863137 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome GARD:18909 MONDO:equivalentTo Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome -MONDO:0863138 distomatosis GARD:1891 MONDO:equivalentTo Distomatosis -MONDO:0863139 silent sinus syndrome GARD:18910 MONDO:equivalentTo Silent sinus syndrome -MONDO:0863140 rare central nervous system and retinal vascular disease GARD:18911 MONDO:equivalentTo Rare central nervous system and retinal vascular disease -MONDO:0863141 cancer-associated retinopathy GARD:18912 MONDO:equivalentTo Cancer-associated retinopathy -MONDO:0863142 benign paroxysmal torticollis of infancy GARD:18913 MONDO:equivalentTo Benign paroxysmal torticollis of infancy -MONDO:0863143 psychogenic movement disorders GARD:18914 MONDO:equivalentTo Psychogenic movement disorders -MONDO:0863144 rare genetic neurological disorder GARD:18915 MONDO:equivalentTo Rare genetic neurological disorder -MONDO:0863145 inherited retinal disorder GARD:18916 MONDO:equivalentTo Inherited retinal disorder -MONDO:0863146 muscular channelopathy GARD:18917 MONDO:equivalentTo Muscular channelopathy -MONDO:0863147 intractable diarrhea of infancy GARD:18918 MONDO:equivalentTo Intractable diarrhea of infancy -MONDO:0863148 global developmental delay-osteopenia-ectodermal defect syndrome GARD:18919 MONDO:equivalentTo Global developmental delay-osteopenia-ectodermal defect syndrome -MONDO:0863149 kidney tubulopathy-dilated cardiomyopathy syndrome GARD:18920 MONDO:equivalentTo Kidney tubulopathy-dilated cardiomyopathy syndrome -MONDO:0863150 ossification anomalies-psychomotor developmental delay syndrome GARD:18921 MONDO:equivalentTo Ossification anomalies-psychomotor developmental delay syndrome -MONDO:0863151 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome GARD:18922 MONDO:equivalentTo Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome -MONDO:0863152 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome GARD:18923 MONDO:equivalentTo Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome -MONDO:0863153 myiasis GARD:18924 MONDO:equivalentTo Myiasis -MONDO:0863154 oligocone trichromacy GARD:18925 MONDO:equivalentTo Oligocone trichromacy -MONDO:0863155 brain malformation-congenital heart disease-postaxial polydactyly syndrome GARD:18926 MONDO:equivalentTo Brain malformation-congenital heart disease-postaxial polydactyly syndrome -MONDO:0863156 angioosteohypotrophic syndrome GARD:18927 MONDO:equivalentTo Angioosteohypotrophic syndrome -MONDO:0863157 tropical endomyocardial fibrosis GARD:18928 MONDO:equivalentTo Tropical endomyocardial fibrosis -MONDO:0863158 loeffler endocarditis GARD:18929 MONDO:equivalentTo Loeffler endocarditis -MONDO:0863159 primary progressive freezing gait GARD:18930 MONDO:equivalentTo Primary progressive freezing gait -MONDO:0863160 6q terminal deletion syndrome GARD:18931 MONDO:equivalentTo 6q terminal deletion syndrome -MONDO:0863161 primary lymphedema GARD:18932 MONDO:equivalentTo Primary lymphedema -MONDO:0863162 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome GARD:18933 MONDO:equivalentTo Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome -MONDO:0863163 monosomy 9q22.3 GARD:18934 MONDO:equivalentTo Monosomy 9q22.3 -MONDO:0863164 genetic obesity GARD:18935 MONDO:equivalentTo Genetic obesity -MONDO:0863165 rare genetic odontologic disease GARD:18936 MONDO:equivalentTo Rare genetic odontologic disease -MONDO:0863166 disorder of amino acid and other organic acid metabolism GARD:18937 MONDO:equivalentTo Disorder of amino acid and other organic acid metabolism -MONDO:0863167 folinic acid-responsive seizures GARD:18938 MONDO:equivalentTo Folinic acid-responsive seizures -MONDO:0863168 sympathetic ophthalmia GARD:18939 MONDO:equivalentTo Sympathetic ophthalmia -MONDO:0863169 von voss-cherstvoy syndrome GARD:1894 MONDO:equivalentTo Von Voss-Cherstvoy syndrome -MONDO:0863170 interstitial granulomatous dermatitis with arthritis GARD:18940 MONDO:equivalentTo Interstitial granulomatous dermatitis with arthritis -MONDO:0863171 myxofibrosarcoma GARD:18941 MONDO:equivalentTo Myxofibrosarcoma -MONDO:0863172 respiratory bronchiolitis-interstitial lung disease syndrome GARD:18942 MONDO:equivalentTo Respiratory bronchiolitis-interstitial lung disease syndrome -MONDO:0863173 trichodysplasia-amelogenesis imperfecta syndrome GARD:18943 MONDO:equivalentTo Trichodysplasia-amelogenesis imperfecta syndrome -MONDO:0863174 bickerstaff brainstem encephalitis GARD:18944 MONDO:equivalentTo Bickerstaff brainstem encephalitis -MONDO:0863175 cerebral organic aciduria GARD:18945 MONDO:equivalentTo Cerebral organic aciduria -MONDO:0863176 disorder of carbohydrate metabolism GARD:18946 MONDO:equivalentTo Disorder of carbohydrate metabolism -MONDO:0863177 classic organic aciduria GARD:18947 MONDO:equivalentTo Classic organic aciduria -MONDO:0863178 disorder of amino acid absorption and transport GARD:18948 MONDO:equivalentTo Disorder of amino acid absorption and transport -MONDO:0863179 disorder of bile acid synthesis GARD:18949 MONDO:equivalentTo Disorder of bile acid synthesis -MONDO:0863180 disorder of neurotransmitter metabolism and transport GARD:18950 MONDO:equivalentTo Disorder of neurotransmitter metabolism and transport -MONDO:0863181 disorder of cobalamin metabolism and transport GARD:18951 MONDO:equivalentTo Disorder of cobalamin metabolism and transport -MONDO:0863182 creatine deficiency syndrome GARD:18952 MONDO:equivalentTo Creatine deficiency syndrome -MONDO:0863183 disorder of methionine cycle and sulfur amino acid metabolism GARD:18953 MONDO:equivalentTo Disorder of methionine cycle and sulfur amino acid metabolism -MONDO:0863184 disorder of fatty acid oxidation and ketone body metabolism GARD:18954 MONDO:equivalentTo Disorder of fatty acid oxidation and ketone body metabolism -MONDO:0863185 disorder of gamma-aminobutyric acid metabolism GARD:18955 MONDO:equivalentTo Disorder of gamma-aminobutyric acid metabolism -MONDO:0863186 gluconeogenesis disorder GARD:18956 MONDO:equivalentTo Gluconeogenesis disorder -MONDO:0863187 glucose transport disorder GARD:18957 MONDO:equivalentTo Glucose transport disorder -MONDO:0863188 disorder of glycerol metabolism GARD:18958 MONDO:equivalentTo Disorder of glycerol metabolism -MONDO:0863189 disorder of histidine metabolism GARD:18959 MONDO:equivalentTo Disorder of histidine metabolism -MONDO:0863190 cleft palate GARD:1896 MONDO:equivalentTo Cleft palate -MONDO:0863191 disorder of ketolysis GARD:18960 MONDO:equivalentTo Disorder of ketolysis -MONDO:0863192 disorder of ornithine or proline metabolism GARD:18961 MONDO:equivalentTo Disorder of ornithine or proline metabolism -MONDO:0863193 disorder of pentose phosphate metabolism GARD:18962 MONDO:equivalentTo Disorder of pentose phosphate metabolism -MONDO:0863194 disorder of peptide metabolism GARD:18963 MONDO:equivalentTo Disorder of peptide metabolism -MONDO:0863195 disorder of phenylalanin or tyrosine metabolism GARD:18964 MONDO:equivalentTo Disorder of phenylalanin or tyrosine metabolism -MONDO:0863196 disorder of purine metabolism GARD:18965 MONDO:equivalentTo Disorder of purine metabolism -MONDO:0863197 disorder of pyridoxine metabolism GARD:18966 MONDO:equivalentTo Disorder of pyridoxine metabolism -MONDO:0863198 disorder of pyrimidine metabolism GARD:18967 MONDO:equivalentTo Disorder of pyrimidine metabolism -MONDO:0863199 disorder of serine or glycine metabolism GARD:18968 MONDO:equivalentTo Disorder of serine or glycine metabolism -MONDO:0863200 sterol biosynthesis disorder GARD:18969 MONDO:equivalentTo Sterol biosynthesis disorder -MONDO:0863201 disorder of the gamma-glutamyl cycle GARD:18970 MONDO:equivalentTo Disorder of the gamma-glutamyl cycle -MONDO:0863202 disorder of branched-chain amino acid metabolism GARD:18971 MONDO:equivalentTo Disorder of branched-chain amino acid metabolism -MONDO:0863203 disorder of energy metabolism GARD:18972 MONDO:equivalentTo Disorder of energy metabolism -MONDO:0863204 glycogen storage disease GARD:18973 MONDO:equivalentTo Glycogen storage disease -MONDO:0863205 disorder of lysosomal amino acid transport GARD:18974 MONDO:equivalentTo Disorder of lysosomal amino acid transport -MONDO:0863206 mucolipidosis GARD:18975 MONDO:equivalentTo Mucolipidosis -MONDO:0863207 disorder of biogenic amine metabolism and transport GARD:18976 MONDO:equivalentTo Disorder of biogenic amine metabolism and transport -MONDO:0863208 oligosaccharidosis GARD:18977 MONDO:equivalentTo Oligosaccharidosis -MONDO:0863209 other metabolic disease with skin involvement GARD:18978 MONDO:equivalentTo Other metabolic disease with skin involvement -MONDO:0863210 metabolic disease involving other neurotransmitter deficiency GARD:18979 MONDO:equivalentTo Metabolic disease involving other neurotransmitter deficiency -MONDO:0863211 early-onset zonular cataract GARD:1898 MONDO:equivalentTo Early-onset zonular cataract -MONDO:0863212 disorder of purine or pyrimidine metabolism GARD:18980 MONDO:equivalentTo Disorder of purine or pyrimidine metabolism -MONDO:0863213 sterol metabolism disorder GARD:18981 MONDO:equivalentTo Sterol metabolism disorder -MONDO:0863214 classic phenylketonuria GARD:18982 MONDO:equivalentTo Classic phenylketonuria -MONDO:0863215 diazoxide-resistant focal hyperinsulinism GARD:18983 MONDO:equivalentTo Diazoxide-resistant focal hyperinsulinism -MONDO:0863216 epidermal disease GARD:18984 MONDO:equivalentTo Epidermal disease -MONDO:0863217 ichthyosis GARD:18985 MONDO:equivalentTo Ichthyosis -MONDO:0863218 erythrokeratoderma GARD:18986 MONDO:equivalentTo Erythrokeratoderma -MONDO:0863219 acrokeratoderma GARD:18987 MONDO:equivalentTo Acrokeratoderma -MONDO:0863220 hereditary palmoplantar keratoderma GARD:18988 MONDO:equivalentTo Hereditary palmoplantar keratoderma -MONDO:0863221 porokeratosis GARD:18989 MONDO:equivalentTo Porokeratosis -MONDO:0863222 donnai-barrow syndrome GARD:1899 MONDO:equivalentTo Donnai-Barrow syndrome -MONDO:0863223 other epidermal disorder GARD:18990 MONDO:equivalentTo Other epidermal disorder -MONDO:0863224 other genetic epidermal disease GARD:18991 MONDO:equivalentTo Other genetic epidermal disease -MONDO:0863225 inherited epidermolysis bullosa GARD:18992 MONDO:equivalentTo Inherited epidermolysis bullosa -MONDO:0863226 epidermal appendage anomaly GARD:18993 MONDO:equivalentTo Epidermal appendage anomaly -MONDO:0863227 hair anomaly GARD:18994 MONDO:equivalentTo Hair anomaly -MONDO:0863228 alopecia GARD:18995 MONDO:equivalentTo Alopecia -MONDO:0863229 rare disorder with hypertrichosis GARD:18996 MONDO:equivalentTo Rare disorder with hypertrichosis -MONDO:0863230 isolated hair shaft abnormality GARD:18997 MONDO:equivalentTo Isolated hair shaft abnormality -MONDO:0863231 syndromic hair shaft abnormality GARD:18998 MONDO:equivalentTo Syndromic hair shaft abnormality -MONDO:0863232 nail anomaly GARD:18999 MONDO:equivalentTo Nail anomaly -MONDO:0863233 dihydropyrimidine dehydrogenase deficiency GARD:19 MONDO:equivalentTo Dihydropyrimidine dehydrogenase deficiency -MONDO:0863234 isolated nail anomaly GARD:19000 MONDO:equivalentTo Isolated nail anomaly -MONDO:0863235 syndromic nail anomaly GARD:19001 MONDO:equivalentTo Syndromic nail anomaly -MONDO:0863236 sebaceous gland anomaly GARD:19002 MONDO:equivalentTo Sebaceous gland anomaly -MONDO:0863237 pigmentation anomaly of the skin GARD:19003 MONDO:equivalentTo Pigmentation anomaly of the skin -MONDO:0863238 hyperpigmentation of the skin GARD:19004 MONDO:equivalentTo Hyperpigmentation of the skin -MONDO:0863239 hypopigmentation of the skin GARD:19005 MONDO:equivalentTo Hypopigmentation of the skin -MONDO:0863240 dermis disorder GARD:19006 MONDO:equivalentTo Dermis disorder -MONDO:0863241 dermis elastic tissue disorder GARD:19007 MONDO:equivalentTo Dermis elastic tissue disorder -MONDO:0863242 skin vascular disease GARD:19008 MONDO:equivalentTo Skin vascular disease -MONDO:0863243 mixed dermis disorder GARD:19009 MONDO:equivalentTo Mixed dermis disorder -MONDO:0863244 other dermis disorder GARD:19010 MONDO:equivalentTo Other dermis disorder -MONDO:0863245 subcutaneous tissue disease GARD:19011 MONDO:equivalentTo Subcutaneous tissue disease -MONDO:0863246 rare urticaria GARD:19012 MONDO:equivalentTo Rare urticaria -MONDO:0863247 unclassified genetic skin disorder GARD:19013 MONDO:equivalentTo Unclassified genetic skin disorder -MONDO:0863248 rare skin tumor or hamartoma GARD:19014 MONDO:equivalentTo Rare skin tumor or hamartoma -MONDO:0863249 metabolic disease with skin involvement GARD:19015 MONDO:equivalentTo Metabolic disease with skin involvement -MONDO:0863250 mucopolysaccharidosis with skin involvement GARD:19016 MONDO:equivalentTo Mucopolysaccharidosis with skin involvement -MONDO:0863251 premature aging GARD:19017 MONDO:equivalentTo Premature aging -MONDO:0863252 rare photodermatosis GARD:19018 MONDO:equivalentTo Rare photodermatosis -MONDO:0863253 immune deficiency with skin involvement GARD:19019 MONDO:equivalentTo Immune deficiency with skin involvement -MONDO:0863254 autosomal recessive dopa-responsive dystonia GARD:1902 MONDO:equivalentTo Autosomal recessive dopa-responsive dystonia -MONDO:0863255 verrucous nevus GARD:19020 MONDO:equivalentTo Verrucous nevus -MONDO:0863256 pemphigus vegetans GARD:19021 MONDO:equivalentTo Pemphigus vegetans -MONDO:0863257 pemphigus erythematosus GARD:19022 MONDO:equivalentTo Pemphigus erythematosus -MONDO:0863258 phakomatosis cesioflammea GARD:19023 MONDO:equivalentTo Phakomatosis cesioflammea -MONDO:0863259 phakomatosis cesiomarmorata GARD:19024 MONDO:equivalentTo Phakomatosis cesiomarmorata -MONDO:0863260 phakomatosis spilorosea GARD:19025 MONDO:equivalentTo Phakomatosis spilorosea -MONDO:0863261 pili gemini GARD:19026 MONDO:equivalentTo Pili gemini -MONDO:0863262 mild hyperphenylalaninemia GARD:19027 MONDO:equivalentTo Mild hyperphenylalaninemia -MONDO:0863263 autoimmune bullous skin disease GARD:19028 MONDO:equivalentTo Autoimmune bullous skin disease -MONDO:0863264 urogenital tract malformation GARD:19029 MONDO:equivalentTo Urogenital tract malformation -MONDO:0863265 dopamine beta-hydroxylase deficiency GARD:1903 MONDO:equivalentTo Dopamine beta-hydroxylase deficiency -MONDO:0863266 rickettsialpox GARD:19030 MONDO:equivalentTo Rickettsialpox -MONDO:0863267 boutonneuse fever GARD:19031 MONDO:equivalentTo Boutonneuse fever -MONDO:0863268 epidemic typhus GARD:19032 MONDO:equivalentTo Epidemic typhus -MONDO:0863269 murine typhus GARD:19033 MONDO:equivalentTo Murine typhus -MONDO:0863270 pseudotyphus of california GARD:19034 MONDO:equivalentTo Pseudotyphus of California -MONDO:0863271 scrub typhus GARD:19035 MONDO:equivalentTo Scrub typhus -MONDO:0863272 regional odontodysplasia GARD:19036 MONDO:equivalentTo Regional odontodysplasia -MONDO:0863273 vulvovaginal gingival syndrome GARD:19037 MONDO:equivalentTo Vulvovaginal gingival syndrome -MONDO:0863274 narcolepsy type 2 GARD:19038 MONDO:equivalentTo Narcolepsy type 2 -MONDO:0863275 solitary bone cyst GARD:19039 MONDO:equivalentTo Solitary bone cyst -MONDO:0863276 subcortical band heterotopia GARD:1904 MONDO:equivalentTo Subcortical band heterotopia -MONDO:0863277 mycoplasma encephalitis GARD:19040 MONDO:equivalentTo Mycoplasma encephalitis -MONDO:0863278 st. louis encephalitis GARD:19041 MONDO:equivalentTo St. Louis encephalitis -MONDO:0863279 colorado tick fever GARD:19042 MONDO:equivalentTo Colorado tick fever -MONDO:0863280 rubella panencephalitis GARD:19043 MONDO:equivalentTo Rubella panencephalitis -MONDO:0863281 macrostomia-preauricular tags-external ophthalmoplegia syndrome GARD:19044 MONDO:equivalentTo Macrostomia-preauricular tags-external ophthalmoplegia syndrome -MONDO:0863282 lumbar syndrome GARD:19045 MONDO:equivalentTo LUMBAR syndrome -MONDO:0863283 idiopathic malabsorption due to bile acid synthesis defects GARD:19046 MONDO:equivalentTo Idiopathic malabsorption due to bile acid synthesis defects -MONDO:0863284 hinman syndrome GARD:19047 MONDO:equivalentTo Hinman syndrome -MONDO:0863285 collagen type iii glomerulopathy GARD:19048 MONDO:equivalentTo Collagen type III glomerulopathy -MONDO:0863286 craniofacial conodysplasia GARD:19049 MONDO:equivalentTo Craniofacial conodysplasia -MONDO:0863287 astley-kendall dysplasia GARD:19050 MONDO:equivalentTo Astley-Kendall dysplasia -MONDO:0863288 dysspondyloenchondromatosis GARD:19051 MONDO:equivalentTo Dysspondyloenchondromatosis -MONDO:0863289 ischiovertebral syndrome GARD:19052 MONDO:equivalentTo Ischiovertebral syndrome -MONDO:0863290 x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome GARD:19053 MONDO:equivalentTo X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome -MONDO:0863291 x-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome GARD:19054 MONDO:equivalentTo X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome -MONDO:0863292 x-linked intellectual disability-macrocephaly-macroorchidism syndrome GARD:19055 MONDO:equivalentTo X-linked intellectual disability-macrocephaly-macroorchidism syndrome -MONDO:0863293 x-linked intellectual disability, pai type GARD:19056 MONDO:equivalentTo X-linked intellectual disability, Pai type -MONDO:0863294 x-linked intellectual disability, seemanova type GARD:19057 MONDO:equivalentTo X-linked intellectual disability, Seemanova type -MONDO:0863295 x-linked intellectual disability, stevenson type GARD:19058 MONDO:equivalentTo X-linked intellectual disability, Stevenson type -MONDO:0863296 x-linked intellectual disability, stoll type GARD:19059 MONDO:equivalentTo X-linked intellectual disability, Stoll type -MONDO:0863297 x-linked intellectual disability-acromegaly-hyperactivity syndrome GARD:19060 MONDO:equivalentTo X-linked intellectual disability-acromegaly-hyperactivity syndrome -MONDO:0863298 x-linked neurodegenerative syndrome, bertini type GARD:19061 MONDO:equivalentTo X-linked neurodegenerative syndrome, Bertini type -MONDO:0863299 x-linked neurodegenerative syndrome, hamel type GARD:19062 MONDO:equivalentTo X-linked neurodegenerative syndrome, Hamel type -MONDO:0863300 x-linked intellectual disability-ataxia-apraxia syndrome GARD:19063 MONDO:equivalentTo X-linked intellectual disability-ataxia-apraxia syndrome -MONDO:0863301 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis GARD:19064 MONDO:equivalentTo Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis -MONDO:0863302 wild type abeta2m amyloidosis GARD:19065 MONDO:equivalentTo Wild type ABeta2M amyloidosis -MONDO:0863303 atypical lichen myxedematosus GARD:19066 MONDO:equivalentTo Atypical lichen myxedematosus -MONDO:0863304 lissencephaly type 3-familial fetal akinesia sequence syndrome GARD:19067 MONDO:equivalentTo Lissencephaly type 3-familial fetal akinesia sequence syndrome -MONDO:0863305 lissencephaly with cerebellar hypoplasia GARD:19068 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia -MONDO:0863306 refractory cytopenia with multilineage dysplasia GARD:19069 MONDO:equivalentTo Refractory cytopenia with multilineage dysplasia -MONDO:0863307 double outlet left ventricle GARD:1907 MONDO:equivalentTo Double outlet left ventricle -MONDO:0863308 refractory anemia with excess blasts GARD:19070 MONDO:equivalentTo Refractory anemia with excess blasts -MONDO:0863309 acute basophilic leukemia GARD:19071 MONDO:equivalentTo Acute basophilic leukemia -MONDO:0863310 splenic marginal zone lymphoma GARD:19072 MONDO:equivalentTo Splenic marginal zone lymphoma -MONDO:0863311 non-amyloid monoclonal immunoglobulin deposition disease GARD:19073 MONDO:equivalentTo Non-amyloid monoclonal immunoglobulin deposition disease -MONDO:0863312 heavy chain disease GARD:19074 MONDO:equivalentTo Heavy chain disease -MONDO:0863313 nodal marginal zone b-cell lymphoma GARD:19075 MONDO:equivalentTo Nodal marginal zone B-cell lymphoma -MONDO:0863314 adult t-cell leukemia/lymphoma GARD:19076 MONDO:equivalentTo Adult T-cell leukemia/lymphoma -MONDO:0863315 hepatosplenic t-cell lymphoma GARD:19077 MONDO:equivalentTo Hepatosplenic T-cell lymphoma -MONDO:0863316 primary cutaneous peripheral t-cell lymphoma not otherwise specified GARD:19078 MONDO:equivalentTo Primary cutaneous peripheral T-cell lymphoma not otherwise specified -MONDO:0863317 nodular lymphocyte predominant hodgkin lymphoma GARD:19079 MONDO:equivalentTo Nodular lymphocyte predominant Hodgkin lymphoma -MONDO:0863318 double outlet right ventricle GARD:1908 MONDO:equivalentTo Double outlet right ventricle -MONDO:0863319 histiocytic sarcoma GARD:19080 MONDO:equivalentTo Histiocytic sarcoma -MONDO:0863320 follicular dendritic cell sarcoma GARD:19081 MONDO:equivalentTo Follicular dendritic cell sarcoma -MONDO:0863321 dendritic cell sarcoma not otherwise specified GARD:19082 MONDO:equivalentTo Dendritic cell sarcoma not otherwise specified -MONDO:0863322 methotrexate-associated lymphoproliferative disorders GARD:19083 MONDO:equivalentTo Methotrexate-associated lymphoproliferative disorders -MONDO:0863323 hypothalamic hamartomas with gelastic seizures GARD:19084 MONDO:equivalentTo Hypothalamic hamartomas with gelastic seizures -MONDO:0863324 idiopathic hemiconvulsion-hemiplegia syndrome GARD:19085 MONDO:equivalentTo Idiopathic hemiconvulsion-hemiplegia syndrome -MONDO:0863325 myoclonic epilepsy of infancy GARD:19086 MONDO:equivalentTo Myoclonic epilepsy of infancy -MONDO:0863326 epilepsy with myoclonic absences GARD:19087 MONDO:equivalentTo Epilepsy with myoclonic absences -MONDO:0863327 myoclonic epilepsy in non-progressive encephalopathies GARD:19088 MONDO:equivalentTo Myoclonic epilepsy in non-progressive encephalopathies -MONDO:0863328 diffuse palmoplantar keratoderma-acrocyanosis syndrome GARD:19089 MONDO:equivalentTo Diffuse palmoplantar keratoderma-acrocyanosis syndrome -MONDO:0863329 rare intellectual disability GARD:19090 MONDO:equivalentTo Rare intellectual disability -MONDO:0863330 non-syndromic genetic deafness GARD:19091 MONDO:equivalentTo Non-syndromic genetic deafness -MONDO:0863331 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome GARD:19092 MONDO:equivalentTo Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome -MONDO:0863332 hypertension due to gain-of-function mutations in the mineralocorticoid receptor GARD:19093 MONDO:equivalentTo Hypertension due to gain-of-function mutations in the mineralocorticoid receptor -MONDO:0863333 rare congenital non-syndromic heart malformation GARD:19094 MONDO:equivalentTo Rare congenital non-syndromic heart malformation -MONDO:0863334 esophageal malformation GARD:19095 MONDO:equivalentTo Esophageal malformation -MONDO:0863335 rare dementia GARD:19096 MONDO:equivalentTo Rare dementia -MONDO:0863336 undifferentiated connective tissue syndrome GARD:19097 MONDO:equivalentTo Undifferentiated connective tissue syndrome -MONDO:0863337 inflammatory pseudotumor of the liver GARD:19098 MONDO:equivalentTo Inflammatory pseudotumor of the liver -MONDO:0863338 radiation myelitis GARD:19099 MONDO:equivalentTo Radiation myelitis -MONDO:0863339 double uterus-hemivagina-renal agenesis syndrome GARD:1910 MONDO:equivalentTo Double uterus-hemivagina-renal agenesis syndrome -MONDO:0863340 non-syndromic syndactyly GARD:19100 MONDO:equivalentTo Non-syndromic syndactyly -MONDO:0863341 mixed-type autoimmune hemolytic anemia GARD:19101 MONDO:equivalentTo Mixed-type autoimmune hemolytic anemia -MONDO:0863342 drug-induced autoimmune hemolytic anemia GARD:19102 MONDO:equivalentTo Drug-induced autoimmune hemolytic anemia -MONDO:0863343 hemoglobin d disease GARD:19103 MONDO:equivalentTo Hemoglobin D disease -MONDO:0863344 gaisböck syndrome GARD:19104 MONDO:equivalentTo Gaisböck syndrome -MONDO:0863345 sepsis in premature infants GARD:19105 MONDO:equivalentTo Sepsis in premature infants -MONDO:0863346 recurrent hepatitis c virus induced liver disease in liver transplant recipients GARD:19106 MONDO:equivalentTo Recurrent hepatitis C virus induced liver disease in liver transplant recipients -MONDO:0863347 complications after hematopoietic stem cell transplantation GARD:19107 MONDO:equivalentTo Complications after hematopoietic stem cell transplantation -MONDO:0863348 moderate and severe traumatic brain injury GARD:19108 MONDO:equivalentTo Moderate and severe traumatic brain injury -MONDO:0863349 spinal cord injury GARD:19109 MONDO:equivalentTo Spinal cord injury -MONDO:0863350 diffuse alveolar hemorrhage GARD:19110 MONDO:equivalentTo Diffuse alveolar hemorrhage -MONDO:0863351 non-infectious posterior uveitis GARD:19111 MONDO:equivalentTo Non-infectious posterior uveitis -MONDO:0863352 acute liver failure GARD:19112 MONDO:equivalentTo Acute liver failure -MONDO:0863353 acute peripheral arterial occlusion GARD:19113 MONDO:equivalentTo Acute peripheral arterial occlusion -MONDO:0863354 acquired aneurysmal subarachnoid hemorrhage GARD:19114 MONDO:equivalentTo Acquired aneurysmal subarachnoid hemorrhage -MONDO:0863355 cocaine intoxication GARD:19115 MONDO:equivalentTo Cocaine intoxication -MONDO:0863356 systemic monochloroacetate poisoning GARD:19116 MONDO:equivalentTo Systemic monochloroacetate poisoning -MONDO:0863357 hepatitis b reinfection following liver transplantation GARD:19117 MONDO:equivalentTo Hepatitis B reinfection following liver transplantation -MONDO:0863358 partial deep dermal and full thickness burns GARD:19118 MONDO:equivalentTo Partial deep dermal and full thickness burns -MONDO:0863359 other acquired skin disease GARD:19119 MONDO:equivalentTo Other acquired skin disease -MONDO:0863360 familial drusen GARD:1912 MONDO:equivalentTo Familial drusen -MONDO:0863361 invasive infections due to vancomycin-resistant enterococci GARD:19120 MONDO:equivalentTo Invasive infections due to vancomycin-resistant enterococci -MONDO:0863362 scarring in glaucoma filtration surgical procedures GARD:19121 MONDO:equivalentTo Scarring in glaucoma filtration surgical procedures -MONDO:0863363 aids wasting syndrome GARD:19122 MONDO:equivalentTo AIDS wasting syndrome -MONDO:0863364 severe early-onset axonal neuropathy due to mfn2 deficiency GARD:19123 MONDO:equivalentTo Severe early-onset axonal neuropathy due to MFN2 deficiency -MONDO:0863365 hereditary motor and sensory neuropathy with acrodystrophy GARD:19124 MONDO:equivalentTo Hereditary motor and sensory neuropathy with acrodystrophy -MONDO:0863366 centrifugal lipodystrophy GARD:19125 MONDO:equivalentTo Centrifugal lipodystrophy -MONDO:0863367 drug-induced localized lipodystrophy GARD:19126 MONDO:equivalentTo Drug-induced localized lipodystrophy -MONDO:0863368 idiopathic localized lipodystrophy GARD:19127 MONDO:equivalentTo Idiopathic localized lipodystrophy -MONDO:0863369 panniculitis-induced localized lipodystrophy GARD:19128 MONDO:equivalentTo Panniculitis-induced localized lipodystrophy -MONDO:0863370 pressure-induced localized lipoatrophy GARD:19129 MONDO:equivalentTo Pressure-induced localized lipoatrophy -MONDO:0863371 chilblain lupus GARD:19130 MONDO:equivalentTo Chilblain lupus -MONDO:0863372 discoid lupus erythematosus GARD:19131 MONDO:equivalentTo Discoid lupus erythematosus -MONDO:0863373 hypertrophic or verrucous lupus erythematosus GARD:19132 MONDO:equivalentTo Hypertrophic or verrucous lupus erythematosus -MONDO:0863374 lupus erythematosus panniculitis GARD:19133 MONDO:equivalentTo Lupus erythematosus panniculitis -MONDO:0863375 autosomal recessive cutis laxa type 2 GARD:19134 MONDO:equivalentTo Autosomal recessive cutis laxa type 2 -MONDO:0863376 secondary intestinal lymphangiectasia GARD:19135 MONDO:equivalentTo Secondary intestinal lymphangiectasia -MONDO:0863377 telangiectasia macularis eruptiva perstans GARD:19136 MONDO:equivalentTo Telangiectasia macularis eruptiva perstans -MONDO:0863378 nodular lichen myxedematosus GARD:19137 MONDO:equivalentTo Nodular lichen myxedematosus -MONDO:0863379 discrete papular lichen myxedematosus GARD:19138 MONDO:equivalentTo Discrete papular lichen myxedematosus -MONDO:0863380 papular mucinosis of infancy GARD:19139 MONDO:equivalentTo Papular mucinosis of infancy -MONDO:0863381 acral persistent papular mucinosis GARD:19140 MONDO:equivalentTo Acral persistent papular mucinosis -MONDO:0863382 self-healing papular mucinosis GARD:19141 MONDO:equivalentTo Self-healing papular mucinosis -MONDO:0863383 localized lichen myxedematosus with mixed features of different subtypes GARD:19142 MONDO:equivalentTo Localized lichen myxedematosus with mixed features of different subtypes -MONDO:0863384 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms GARD:19143 MONDO:equivalentTo Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms -MONDO:0863385 scleromyxedema without monoclonal gammopathy GARD:19144 MONDO:equivalentTo Scleromyxedema without monoclonal gammopathy -MONDO:0863386 syndromic genetic deafness GARD:19145 MONDO:equivalentTo Syndromic genetic deafness -MONDO:0863387 rare endocrine growth disease GARD:19146 MONDO:equivalentTo Rare endocrine growth disease -MONDO:0863388 disorder of sex development GARD:19147 MONDO:equivalentTo Disorder of sex development -MONDO:0863389 46,xx disorder of sex development induced by fetal androgens excess GARD:19148 MONDO:equivalentTo 46,XX disorder of sex development induced by fetal androgens excess -MONDO:0863390 46,xy disorder of sex development due to a testosterone synthesis defect GARD:19149 MONDO:equivalentTo 46,XY disorder of sex development due to a testosterone synthesis defect -MONDO:0863391 46,xy disorder of sex development due to adrenal and testicular steroidogenesis defect GARD:19150 MONDO:equivalentTo 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect -MONDO:0863392 46,xy disorder of sex development due to testicular steroidogenesis defect GARD:19151 MONDO:equivalentTo 46,XY disorder of sex development due to testicular steroidogenesis defect -MONDO:0863393 other metabolic disease GARD:19152 MONDO:equivalentTo Other metabolic disease -MONDO:0863394 adenovirus infection in immunocompromised patients GARD:19153 MONDO:equivalentTo Adenovirus infection in immunocompromised patients -MONDO:0863395 acquired monoclonal ig light chain-associated fanconi syndrome GARD:19154 MONDO:equivalentTo Acquired monoclonal Ig light chain-associated Fanconi syndrome -MONDO:0863396 unspecified juvenile idiopathic arthritis GARD:19155 MONDO:equivalentTo Unspecified juvenile idiopathic arthritis -MONDO:0863397 46,xx disorder of sex development induced by maternal-derived androgen GARD:19156 MONDO:equivalentTo 46,XX disorder of sex development induced by maternal-derived androgen -MONDO:0863398 tsh-secreting pituitary adenoma GARD:19157 MONDO:equivalentTo TSH-secreting pituitary adenoma -MONDO:0863399 functioning gonadotropic adenoma GARD:19158 MONDO:equivalentTo Functioning gonadotropic adenoma -MONDO:0863400 non-functioning pituitary adenoma GARD:19159 MONDO:equivalentTo Non-functioning pituitary adenoma -MONDO:0863401 pituitary deficiency due to rathke cleft cysts GARD:19160 MONDO:equivalentTo Pituitary deficiency due to Rathke cleft cysts -MONDO:0863402 pituitary dermoid and epidermoid cysts GARD:19161 MONDO:equivalentTo Pituitary dermoid and epidermoid cysts -MONDO:0863403 germinoma of the central nervous system GARD:19162 MONDO:equivalentTo Germinoma of the central nervous system -MONDO:0863404 pituitary deficiency due to empty sella turcica syndrome GARD:19163 MONDO:equivalentTo Pituitary deficiency due to empty sella turcica syndrome -MONDO:0863405 duplication of the esophagus GARD:19164 MONDO:equivalentTo Duplication of the esophagus -MONDO:0863406 congenital esophageal diverticulum GARD:19165 MONDO:equivalentTo Congenital esophageal diverticulum -MONDO:0863407 chronic pneumonitis of infancy GARD:19166 MONDO:equivalentTo Chronic pneumonitis of infancy -MONDO:0863408 non-specific interstitial pneumonia GARD:19167 MONDO:equivalentTo Non-specific interstitial pneumonia -MONDO:0863409 isolated ankyloblepharon filiforme adnatum GARD:19168 MONDO:equivalentTo Isolated ankyloblepharon filiforme adnatum -MONDO:0863410 congenital ectropion uveae GARD:19169 MONDO:equivalentTo Congenital ectropion uveae -MONDO:0863411 dermatitis herpetiformis GARD:1917 MONDO:equivalentTo Dermatitis herpetiformis -MONDO:0863412 lyme disease GARD:19170 MONDO:equivalentTo Lyme disease -MONDO:0863413 relapsing fever GARD:19171 MONDO:equivalentTo Relapsing fever -MONDO:0863414 renal hypoplasia GARD:19172 MONDO:equivalentTo Renal hypoplasia -MONDO:0863415 renal dysplasia GARD:19173 MONDO:equivalentTo Renal dysplasia -MONDO:0863416 congenital megacalycosis GARD:19174 MONDO:equivalentTo Congenital megacalycosis -MONDO:0863417 pauci-immune glomerulonephritis GARD:19175 MONDO:equivalentTo Pauci-immune glomerulonephritis -MONDO:0863418 transient pseudohypoaldosteronism GARD:19176 MONDO:equivalentTo Transient pseudohypoaldosteronism -MONDO:0863419 renal dysplasia, unilateral GARD:19177 MONDO:equivalentTo Renal dysplasia, unilateral -MONDO:0863420 renal dysplasia, bilateral GARD:19178 MONDO:equivalentTo Renal dysplasia, bilateral -MONDO:0863421 unilateral congenital megacalycosis GARD:19179 MONDO:equivalentTo Unilateral congenital megacalycosis -MONDO:0863422 congenital bilateral megacalycosis GARD:19180 MONDO:equivalentTo Congenital bilateral megacalycosis -MONDO:0863423 monostotic fibrous dysplasia GARD:19181 MONDO:equivalentTo Monostotic fibrous dysplasia -MONDO:0863424 ulnar hemimelia GARD:19182 MONDO:equivalentTo Ulnar hemimelia -MONDO:0863425 juvenile sialidosis type 2 GARD:19183 MONDO:equivalentTo Juvenile sialidosis type 2 -MONDO:0863426 congenital sialidosis type 2 GARD:19184 MONDO:equivalentTo Congenital sialidosis type 2 -MONDO:0863427 fgfr3-related chondrodysplasia GARD:19185 MONDO:equivalentTo FGFR3-related chondrodysplasia -MONDO:0863428 type 2 collagen-related bone disorder GARD:19186 MONDO:equivalentTo Type 2 collagen-related bone disorder -MONDO:0863429 type 11 collagen-related bone disorder GARD:19187 MONDO:equivalentTo Type 11 collagen-related bone disorder -MONDO:0863430 sulfation-related bone disorder GARD:19188 MONDO:equivalentTo Sulfation-related bone disorder -MONDO:0863431 perlecan-related bone disorder GARD:19189 MONDO:equivalentTo Perlecan-related bone disorder -MONDO:0863432 filamin-related bone disorder GARD:19190 MONDO:equivalentTo Filamin-related bone disorder -MONDO:0863433 multiple epiphyseal dysplasia and pseudoachondroplasia GARD:19191 MONDO:equivalentTo Multiple epiphyseal dysplasia and pseudoachondroplasia -MONDO:0863434 multiple metaphyseal dysplasia GARD:19192 MONDO:equivalentTo Multiple metaphyseal dysplasia -MONDO:0863435 spondylodysplastic dysplasia GARD:19193 MONDO:equivalentTo Spondylodysplastic dysplasia -MONDO:0863436 acromelic dysplasia GARD:19194 MONDO:equivalentTo Acromelic dysplasia -MONDO:0863437 mesomelic and rhizo-mesomelic dysplasia GARD:19195 MONDO:equivalentTo Mesomelic and rhizo-mesomelic dysplasia -MONDO:0863438 campomelic dysplasia and related disorders GARD:19196 MONDO:equivalentTo Campomelic dysplasia and related disorders -MONDO:0863439 slender bone dysplasia GARD:19197 MONDO:equivalentTo Slender bone dysplasia -MONDO:0863440 primary bone dysplasia with multiple joint dislocations GARD:19198 MONDO:equivalentTo Primary bone dysplasia with multiple joint dislocations -MONDO:0863441 neonatal osteosclerotic dysplasia GARD:19199 MONDO:equivalentTo Neonatal osteosclerotic dysplasia -MONDO:0863442 cataract-intellectual disability-anal atresia-urinary defects syndrome GARD:192 MONDO:equivalentTo Cataract-intellectual disability-anal atresia-urinary defects syndrome -MONDO:0863443 primary bone dysplasia with increased bone density GARD:19200 MONDO:equivalentTo Primary bone dysplasia with increased bone density -MONDO:0863444 primary bone dysplasia with decreased bone density GARD:19201 MONDO:equivalentTo Primary bone dysplasia with decreased bone density -MONDO:0863445 primary bone dysplasia with defective bone mineralization GARD:19202 MONDO:equivalentTo Primary bone dysplasia with defective bone mineralization -MONDO:0863446 lysosomal storage disease with skeletal involvement GARD:19203 MONDO:equivalentTo Lysosomal storage disease with skeletal involvement -MONDO:0863447 primary osteolysis GARD:19204 MONDO:equivalentTo Primary osteolysis -MONDO:0863448 primary bone dysplasia with disorganized development of skeletal components GARD:19205 MONDO:equivalentTo Primary bone dysplasia with disorganized development of skeletal components -MONDO:0863449 cleidocranial dysplasia and isolated cranial ossification defect GARD:19206 MONDO:equivalentTo Cleidocranial dysplasia and isolated cranial ossification defect -MONDO:0863450 dysostosis with predominant craniofacial involvement GARD:19207 MONDO:equivalentTo Dysostosis with predominant craniofacial involvement -MONDO:0863451 dysostosis with predominant vertebral and costal involvement GARD:19208 MONDO:equivalentTo Dysostosis with predominant vertebral and costal involvement -MONDO:0863452 patellar dysostosis GARD:19209 MONDO:equivalentTo Patellar dysostosis -MONDO:0863453 non-syndromic limb reduction defect GARD:19210 MONDO:equivalentTo Non-syndromic limb reduction defect -MONDO:0863454 non-syndromic polydactyly, syndactyly and/or hyperphalangy GARD:19211 MONDO:equivalentTo Non-syndromic polydactyly, syndactyly and/or hyperphalangy -MONDO:0863455 syndrome with synostosis or other joint formation defect GARD:19212 MONDO:equivalentTo Syndrome with synostosis or other joint formation defect -MONDO:0863456 overgrowth syndrome GARD:19213 MONDO:equivalentTo Overgrowth syndrome -MONDO:0863457 chromosomal disease with overgrowth GARD:19214 MONDO:equivalentTo Chromosomal disease with overgrowth -MONDO:0863458 lethal chondrodysplasia GARD:19215 MONDO:equivalentTo Lethal chondrodysplasia -MONDO:0863459 renal or urinary tract malformation GARD:19216 MONDO:equivalentTo Renal or urinary tract malformation -MONDO:0863460 non-syndromic renal or urinary tract malformation GARD:19217 MONDO:equivalentTo Non-syndromic renal or urinary tract malformation -MONDO:0863461 syndromic renal or urinary tract malformation GARD:19218 MONDO:equivalentTo Syndromic renal or urinary tract malformation -MONDO:0863462 pediatric systemic lupus erythematosus GARD:19219 MONDO:equivalentTo Pediatric systemic lupus erythematosus -MONDO:0863463 mixed cryoglobulinemia type ii GARD:19220 MONDO:equivalentTo Mixed cryoglobulinemia type II -MONDO:0863464 mixed cryoglobulinemia type iii GARD:19221 MONDO:equivalentTo Mixed cryoglobulinemia type III -MONDO:0863465 heavy chain deposition disease GARD:19222 MONDO:equivalentTo Heavy chain deposition disease -MONDO:0863466 light and heavy chain deposition disease GARD:19223 MONDO:equivalentTo Light and heavy chain deposition disease -MONDO:0863467 aapoai amyloidosis GARD:19224 MONDO:equivalentTo AApoAI amyloidosis -MONDO:0863468 alys amyloidosis GARD:19225 MONDO:equivalentTo ALys amyloidosis -MONDO:0863469 afib amyloidosis GARD:19226 MONDO:equivalentTo AFib amyloidosis -MONDO:0863470 thrombotic microangiopathy GARD:19227 MONDO:equivalentTo Thrombotic microangiopathy -MONDO:0863471 genetic cystic renal disease GARD:19228 MONDO:equivalentTo Genetic cystic renal disease -MONDO:0863472 nephropathy secondary to a storage or other metabolic disease GARD:19229 MONDO:equivalentTo Nephropathy secondary to a storage or other metabolic disease -MONDO:0863473 rare renal tubular disease GARD:19230 MONDO:equivalentTo Rare renal tubular disease -MONDO:0863474 hematological disorder with renal involvement GARD:19231 MONDO:equivalentTo Hematological disorder with renal involvement -MONDO:0863475 rare cause of hypertension GARD:19232 MONDO:equivalentTo Rare cause of hypertension -MONDO:0863476 rare renal tumor GARD:19233 MONDO:equivalentTo Rare renal tumor -MONDO:0863477 autoinflammatory syndrome GARD:19234 MONDO:equivalentTo Autoinflammatory syndrome -MONDO:0863478 isolated epispadias GARD:19235 MONDO:equivalentTo Isolated epispadias -MONDO:0863479 laryngotracheoesophageal cleft type 1 GARD:19236 MONDO:equivalentTo Laryngotracheoesophageal cleft type 1 -MONDO:0863480 laryngotracheoesophageal cleft type 2 GARD:19237 MONDO:equivalentTo Laryngotracheoesophageal cleft type 2 -MONDO:0863481 laryngotracheoesophageal cleft type 4 GARD:19238 MONDO:equivalentTo Laryngotracheoesophageal cleft type 4 -MONDO:0863482 x-linked intellectual disability, porteous type GARD:19239 MONDO:equivalentTo X-linked intellectual disability, Porteous type -MONDO:0863483 hamel cerebro-palato-cardiac syndrome GARD:19240 MONDO:equivalentTo Hamel cerebro-palato-cardiac syndrome -MONDO:0863484 x-linked intellectual disability, golabi-ito-hall type GARD:19241 MONDO:equivalentTo X-linked intellectual disability, Golabi-Ito-Hall type -MONDO:0863485 x-linked intellectual disability, sutherland-haan type GARD:19242 MONDO:equivalentTo X-linked intellectual disability, Sutherland-Haan type -MONDO:0863486 oromandibular dystonia GARD:19243 MONDO:equivalentTo Oromandibular dystonia -MONDO:0863487 humero-ulnar synostosis GARD:19244 MONDO:equivalentTo Humero-ulnar synostosis -MONDO:0863488 neovascular glaucoma GARD:19245 MONDO:equivalentTo Neovascular glaucoma -MONDO:0863489 uremic pruritus GARD:19246 MONDO:equivalentTo Uremic pruritus -MONDO:0863490 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia GARD:19247 MONDO:equivalentTo Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia -MONDO:0863491 non-functioning paraganglioma GARD:19248 MONDO:equivalentTo Non-functioning paraganglioma -MONDO:0863492 cytophagic histiocytic panniculitis GARD:19249 MONDO:equivalentTo Cytophagic histiocytic panniculitis -MONDO:0863493 mills syndrome GARD:19250 MONDO:equivalentTo Mills syndrome -MONDO:0863494 recessive mitochondrial ataxia syndrome GARD:19251 MONDO:equivalentTo Recessive mitochondrial ataxia syndrome -MONDO:0863495 autosomal dominant cerebellar ataxia type i GARD:19252 MONDO:equivalentTo Autosomal dominant cerebellar ataxia type I -MONDO:0863496 autosomal dominant cerebellar ataxia type iii GARD:19253 MONDO:equivalentTo Autosomal dominant cerebellar ataxia type III -MONDO:0863497 autosomal dominant cerebellar ataxia type iv GARD:19254 MONDO:equivalentTo Autosomal dominant cerebellar ataxia type IV -MONDO:0863498 acute hepatic porphyria GARD:19255 MONDO:equivalentTo Acute hepatic porphyria -MONDO:0863499 chronic hepatic porphyria GARD:19256 MONDO:equivalentTo Chronic hepatic porphyria -MONDO:0863500 acute adrenal insufficiency GARD:19257 MONDO:equivalentTo Acute adrenal insufficiency -MONDO:0863501 secondary short bowel syndrome GARD:19258 MONDO:equivalentTo Secondary short bowel syndrome -MONDO:0863502 mesocardia GARD:19259 MONDO:equivalentTo Mesocardia -MONDO:0863503 congenital aortic valve atresia GARD:19260 MONDO:equivalentTo Congenital aortic valve atresia -MONDO:0863504 tricuspid valve agenesis GARD:19261 MONDO:equivalentTo Tricuspid valve agenesis -MONDO:0863505 congenital tricuspid stenosis GARD:19262 MONDO:equivalentTo Congenital tricuspid stenosis -MONDO:0863506 straddling or overriding tricuspid valve GARD:19263 MONDO:equivalentTo Straddling or overriding tricuspid valve -MONDO:0863507 accessory tricuspid valve tissue GARD:19264 MONDO:equivalentTo Accessory tricuspid valve tissue -MONDO:0863508 anomaly of the tricuspid subvalvular apparatus GARD:19265 MONDO:equivalentTo Anomaly of the tricuspid subvalvular apparatus -MONDO:0863509 congenital mitral valve insufficiency and/or stenosis GARD:19266 MONDO:equivalentTo Congenital mitral valve insufficiency and/or stenosis -MONDO:0863510 cleft mitral valve GARD:19267 MONDO:equivalentTo Cleft mitral valve -MONDO:0863511 double-orifice mitral valve GARD:19268 MONDO:equivalentTo Double-orifice mitral valve -MONDO:0863512 univentricular cardiopathy GARD:19269 MONDO:equivalentTo Univentricular cardiopathy -MONDO:0863513 arterial duct anomaly GARD:19270 MONDO:equivalentTo Arterial duct anomaly -MONDO:0863514 premature closure of the arterial duct GARD:19271 MONDO:equivalentTo Premature closure of the arterial duct -MONDO:0863515 non-acquired pituitary hormone deficiency GARD:19272 MONDO:equivalentTo Non-acquired pituitary hormone deficiency -MONDO:0863516 congenital coronary artery aneurysm GARD:19273 MONDO:equivalentTo Congenital coronary artery aneurysm -MONDO:0863517 disease associated with non-acquired combined pituitary hormone deficiency GARD:19274 MONDO:equivalentTo Disease associated with non-acquired combined pituitary hormone deficiency -MONDO:0863518 congenital anomaly of superior vena cava GARD:19275 MONDO:equivalentTo Congenital anomaly of superior vena cava -MONDO:0863519 congenital anomaly of the inferior vena cava GARD:19276 MONDO:equivalentTo Congenital anomaly of the inferior vena cava -MONDO:0863520 congenital anomaly of the coronary sinus GARD:19277 MONDO:equivalentTo Congenital anomaly of the coronary sinus -MONDO:0863521 acquired pituitary hormone deficiency GARD:19278 MONDO:equivalentTo Acquired pituitary hormone deficiency -MONDO:0863522 pituitary hormone deficiency of tumoral origin GARD:19279 MONDO:equivalentTo Pituitary hormone deficiency of tumoral origin -MONDO:0863523 pituitary hormone deficiency of meningeal origin GARD:19280 MONDO:equivalentTo Pituitary hormone deficiency of meningeal origin -MONDO:0863524 primary hypophysitis GARD:19281 MONDO:equivalentTo Primary hypophysitis -MONDO:0863525 congenital anomaly of hepatic vein GARD:19282 MONDO:equivalentTo Congenital anomaly of hepatic vein -MONDO:0863526 atrial appendage anomaly GARD:19283 MONDO:equivalentTo Atrial appendage anomaly -MONDO:0863527 adenohypophysitis GARD:19284 MONDO:equivalentTo Adenohypophysitis -MONDO:0863528 panhypophysitis GARD:19285 MONDO:equivalentTo Panhypophysitis -MONDO:0863529 pituitary hormone deficiency of vascular origin GARD:19286 MONDO:equivalentTo Pituitary hormone deficiency of vascular origin -MONDO:0863530 pituitary apoplexy GARD:19287 MONDO:equivalentTo Pituitary apoplexy -MONDO:0863531 pituitary hormone deficiency secondary to a granulomatous disease GARD:19288 MONDO:equivalentTo Pituitary hormone deficiency secondary to a granulomatous disease -MONDO:0863532 pituitary hormone deficiency secondary to storage disease GARD:19289 MONDO:equivalentTo Pituitary hormone deficiency secondary to storage disease -MONDO:0863533 post-traumatic pituitary deficiency GARD:19290 MONDO:equivalentTo Post-traumatic pituitary deficiency -MONDO:0863534 acquired central diabetes insipidus GARD:19291 MONDO:equivalentTo Acquired central diabetes insipidus -MONDO:0863535 idiopathic isolated micropenis GARD:19292 MONDO:equivalentTo Idiopathic isolated micropenis -MONDO:0863536 acquired premature ovarian failure GARD:19293 MONDO:equivalentTo Acquired premature ovarian failure -MONDO:0863537 non-acquired premature ovarian failure GARD:19294 MONDO:equivalentTo Non-acquired premature ovarian failure -MONDO:0863538 congenital hypothyroidism due to developmental anomaly GARD:19295 MONDO:equivalentTo Congenital hypothyroidism due to developmental anomaly -MONDO:0863539 primary congenital hypothyroidism without thyroid developmental anomaly GARD:19296 MONDO:equivalentTo Primary congenital hypothyroidism without thyroid developmental anomaly -MONDO:0863540 congenital hypothyroidism due to transplacental passage of tsh-binding inhibitory antibodies GARD:19297 MONDO:equivalentTo Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies -MONDO:0863541 idiopathic congenital hypothyroidism GARD:19298 MONDO:equivalentTo Idiopathic congenital hypothyroidism -MONDO:0863542 congenital thyroid malformation without hypothyroidism GARD:19299 MONDO:equivalentTo Congenital thyroid malformation without hypothyroidism -MONDO:0863543 opitz gbbb syndrome GARD:193 MONDO:equivalentTo Opitz GBBB syndrome -MONDO:0863544 mosaic trisomy 4 GARD:19300 MONDO:equivalentTo Mosaic trisomy 4 -MONDO:0863545 mosaic trisomy 5 GARD:19301 MONDO:equivalentTo Mosaic trisomy 5 -MONDO:0863546 mosaic trisomy 10 GARD:19302 MONDO:equivalentTo Mosaic trisomy 10 -MONDO:0863547 distal trisomy 1p36 GARD:19303 MONDO:equivalentTo Distal trisomy 1p36 -MONDO:0863548 distal trisomy 2p GARD:19304 MONDO:equivalentTo Distal trisomy 2p -MONDO:0863549 distal trisomy 3p GARD:19305 MONDO:equivalentTo Distal trisomy 3p -MONDO:0863550 4p16.3 microduplication syndrome GARD:19306 MONDO:equivalentTo 4p16.3 microduplication syndrome -MONDO:0863551 distal trisomy 7p GARD:19307 MONDO:equivalentTo Distal trisomy 7p -MONDO:0863552 beckwith-wiedemann syndrome due to 11p15 microduplication GARD:19308 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to 11p15 microduplication -MONDO:0863553 8p inverted duplication/deletion syndrome GARD:19309 MONDO:equivalentTo 8p inverted duplication/deletion syndrome -MONDO:0863554 distal trisomy 2q GARD:19310 MONDO:equivalentTo Distal trisomy 2q -MONDO:0863555 3q26 microduplication syndrome GARD:19311 MONDO:equivalentTo 3q26 microduplication syndrome -MONDO:0863556 distal trisomy 4q GARD:19312 MONDO:equivalentTo Distal trisomy 4q -MONDO:0863557 distal trisomy 5q GARD:19313 MONDO:equivalentTo Distal trisomy 5q -MONDO:0863558 distal trisomy 6q GARD:19314 MONDO:equivalentTo Distal trisomy 6q -MONDO:0863559 distal trisomy 8q GARD:19315 MONDO:equivalentTo Distal trisomy 8q -MONDO:0863560 distal trisomy 9q GARD:19316 MONDO:equivalentTo Distal trisomy 9q -MONDO:0863561 distal trisomy 10q GARD:19317 MONDO:equivalentTo Distal trisomy 10q -MONDO:0863562 distal trisomy 11q GARD:19318 MONDO:equivalentTo Distal trisomy 11q -MONDO:0863563 distal trisomy 13q GARD:19319 MONDO:equivalentTo Distal trisomy 13q -MONDO:0863564 distal trisomy 16q GARD:19320 MONDO:equivalentTo Distal trisomy 16q -MONDO:0863565 distal trisomy 20q GARD:19321 MONDO:equivalentTo Distal trisomy 20q -MONDO:0863566 distal trisomy 22q GARD:19322 MONDO:equivalentTo Distal trisomy 22q -MONDO:0863567 non-distal trisomy 9q GARD:19323 MONDO:equivalentTo Non-distal trisomy 9q -MONDO:0863568 monosomy 22 GARD:19324 MONDO:equivalentTo Monosomy 22 -MONDO:0863569 distal monosomy 7p GARD:19325 MONDO:equivalentTo Distal monosomy 7p -MONDO:0863570 distal monosomy 19p13.3 GARD:19326 MONDO:equivalentTo Distal monosomy 19p13.3 -MONDO:0863571 distal monosomy 4q GARD:19327 MONDO:equivalentTo Distal monosomy 4q -MONDO:0863572 distal monosomy 12q GARD:19328 MONDO:equivalentTo Distal monosomy 12q -MONDO:0863573 distal monosomy 14q GARD:19329 MONDO:equivalentTo Distal monosomy 14q -MONDO:0863574 non-distal monosomy 12q GARD:19330 MONDO:equivalentTo Non-distal monosomy 12q -MONDO:0863575 maternal uniparental disomy of chromosome 2 GARD:19331 MONDO:equivalentTo Maternal uniparental disomy of chromosome 2 -MONDO:0863576 maternal uniparental disomy of chromosome 4 GARD:19332 MONDO:equivalentTo Maternal uniparental disomy of chromosome 4 -MONDO:0863577 maternal uniparental disomy of chromosome 6 GARD:19333 MONDO:equivalentTo Maternal uniparental disomy of chromosome 6 -MONDO:0863578 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 GARD:19334 MONDO:equivalentTo Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 -MONDO:0863579 maternal uniparental disomy of chromosome 9 GARD:19335 MONDO:equivalentTo Maternal uniparental disomy of chromosome 9 -MONDO:0863580 maternal uniparental disomy of chromosome 16 GARD:19336 MONDO:equivalentTo Maternal uniparental disomy of chromosome 16 -MONDO:0863581 maternal uniparental disomy of chromosome 21 GARD:19337 MONDO:equivalentTo Maternal uniparental disomy of chromosome 21 -MONDO:0863582 maternal uniparental disomy of chromosome 22 GARD:19338 MONDO:equivalentTo Maternal uniparental disomy of chromosome 22 -MONDO:0863583 paternal uniparental disomy of chromosome 5 GARD:19339 MONDO:equivalentTo Paternal uniparental disomy of chromosome 5 -MONDO:0863584 paternal uniparental disomy of chromosome 6 GARD:19340 MONDO:equivalentTo Paternal uniparental disomy of chromosome 6 -MONDO:0863585 paternal uniparental disomy of chromosome 7 GARD:19341 MONDO:equivalentTo Paternal uniparental disomy of chromosome 7 -MONDO:0863586 beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 GARD:19342 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 -MONDO:0863587 paternal uniparental disomy of chromosome 20 GARD:19343 MONDO:equivalentTo Paternal uniparental disomy of chromosome 20 -MONDO:0863588 paternal uniparental disomy of chromosome 21 GARD:19344 MONDO:equivalentTo Paternal uniparental disomy of chromosome 21 -MONDO:0863589 x small rings GARD:19345 MONDO:equivalentTo X small rings -MONDO:0863590 rare genetic deafness GARD:19346 MONDO:equivalentTo Rare genetic deafness -MONDO:0863591 isolated partial vaginal agenesis GARD:19347 MONDO:equivalentTo Isolated partial vaginal agenesis -MONDO:0863592 polyploidy GARD:19348 MONDO:equivalentTo Polyploidy -MONDO:0863593 isochromosome y GARD:19349 MONDO:equivalentTo Isochromosome Y -MONDO:0863594 rare otorhinolaryngological malformation GARD:19350 MONDO:equivalentTo Rare otorhinolaryngological malformation -MONDO:0863595 anorectal malformation GARD:19351 MONDO:equivalentTo Anorectal malformation -MONDO:0863596 early-onset schizophrenia GARD:19352 MONDO:equivalentTo Early-onset schizophrenia -MONDO:0863597 solar urticaria GARD:19353 MONDO:equivalentTo Solar urticaria -MONDO:0863598 zebra body myopathy GARD:19354 MONDO:equivalentTo Zebra body myopathy -MONDO:0863599 mega-cisterna magna GARD:19355 MONDO:equivalentTo Mega-cisterna magna -MONDO:0863600 grfoma GARD:19356 MONDO:equivalentTo GRFoma -MONDO:0863601 encephalitis GARD:19357 MONDO:equivalentTo Encephalitis -MONDO:0863602 ppoma GARD:19358 MONDO:equivalentTo PPoma -MONDO:0863603 thyroid lymphoma GARD:19359 MONDO:equivalentTo Thyroid lymphoma -MONDO:0863604 bronchial neuroendocrine tumor GARD:19360 MONDO:equivalentTo Bronchial neuroendocrine tumor -MONDO:0863605 thymic neuroendocrine tumor GARD:19361 MONDO:equivalentTo Thymic neuroendocrine tumor -MONDO:0863606 cardiogenic shock GARD:19362 MONDO:equivalentTo Cardiogenic shock -MONDO:0863607 rare benign ovarian tumor GARD:19363 MONDO:equivalentTo Rare benign ovarian tumor -MONDO:0863608 osgood-schlatter disease GARD:19364 MONDO:equivalentTo Osgood-Schlatter disease -MONDO:0863609 panner disease GARD:19365 MONDO:equivalentTo Panner disease -MONDO:0863610 sinding-larsen-johansson disease GARD:19366 MONDO:equivalentTo Sinding-Larsen-Johansson disease -MONDO:0863611 melanoma of soft tissue GARD:19367 MONDO:equivalentTo Melanoma of soft tissue -MONDO:0863612 dural sinus malformation GARD:19368 MONDO:equivalentTo Dural sinus malformation -MONDO:0863613 persistent placoid maculopathy GARD:19369 MONDO:equivalentTo Persistent placoid maculopathy -MONDO:0863614 postencephalitic parkinsonism GARD:19370 MONDO:equivalentTo Postencephalitic parkinsonism -MONDO:0863615 dementia pugilistica GARD:19371 MONDO:equivalentTo Dementia pugilistica -MONDO:0863616 caribbean parkinsonism GARD:19372 MONDO:equivalentTo Caribbean parkinsonism -MONDO:0863617 renal hypoplasia, unilateral GARD:19373 MONDO:equivalentTo Renal hypoplasia, unilateral -MONDO:0863618 renal hypoplasia, bilateral GARD:19374 MONDO:equivalentTo Renal hypoplasia, bilateral -MONDO:0863619 unilateral multicystic dysplastic kidney GARD:19375 MONDO:equivalentTo Unilateral multicystic dysplastic kidney -MONDO:0863620 multiloculated renal cyst GARD:19376 MONDO:equivalentTo Multiloculated renal cyst -MONDO:0863621 renal tubular dysgenesis due to twin-twin transfusion GARD:19377 MONDO:equivalentTo Renal tubular dysgenesis due to twin-twin transfusion -MONDO:0863622 drug-related renal tubular dysgenesis GARD:19378 MONDO:equivalentTo Drug-related renal tubular dysgenesis -MONDO:0863623 pauci-immune glomerulonephritis with anca GARD:19379 MONDO:equivalentTo Pauci-immune glomerulonephritis with ANCA -MONDO:0863624 pauci-immune glomerulonephritis without anca GARD:19380 MONDO:equivalentTo Pauci-immune glomerulonephritis without ANCA -MONDO:0863625 congenital renal artery stenosis GARD:19381 MONDO:equivalentTo Congenital renal artery stenosis -MONDO:0863626 maternal uniparental disomy of chromosome 13 GARD:19382 MONDO:equivalentTo Maternal uniparental disomy of chromosome 13 -MONDO:0863627 gastroduodenal malformation GARD:19383 MONDO:equivalentTo Gastroduodenal malformation -MONDO:0863628 intestinal malformation GARD:19384 MONDO:equivalentTo Intestinal malformation -MONDO:0863629 respiratory or thoracic malformation GARD:19385 MONDO:equivalentTo Respiratory or thoracic malformation -MONDO:0863630 infectious disease of the nervous system GARD:19386 MONDO:equivalentTo Infectious disease of the nervous system -MONDO:0863631 rare headache GARD:19387 MONDO:equivalentTo Rare headache -MONDO:0863632 rare disease with odontological manifestation GARD:19388 MONDO:equivalentTo Rare disease with odontological manifestation -MONDO:0863633 rare neurologic disease with psychiatric involvement GARD:19389 MONDO:equivalentTo Rare neurologic disease with psychiatric involvement -MONDO:0863634 cranial malformation GARD:19390 MONDO:equivalentTo Cranial malformation -MONDO:0863635 digestive tract malformation GARD:19391 MONDO:equivalentTo Digestive tract malformation -MONDO:0863636 visceral malformation of the liver, biliary tract, pancreas or spleen GARD:19392 MONDO:equivalentTo Visceral malformation of the liver, biliary tract, pancreas or spleen -MONDO:0863637 diaphragmatic or abdominal wall malformation GARD:19393 MONDO:equivalentTo Diaphragmatic or abdominal wall malformation -MONDO:0863638 central nervous system malformation GARD:19394 MONDO:equivalentTo Central nervous system malformation -MONDO:0863639 respiratory or mediastinal malformation GARD:19395 MONDO:equivalentTo Respiratory or mediastinal malformation -MONDO:0863640 rare male infertility GARD:19396 MONDO:equivalentTo Rare male infertility -MONDO:0863641 rare female infertility GARD:19397 MONDO:equivalentTo Rare female infertility -MONDO:0863642 rare allergic respiratory disease GARD:19398 MONDO:equivalentTo Rare allergic respiratory disease -MONDO:0863643 rare genetic cardiac disease GARD:19399 MONDO:equivalentTo Rare genetic cardiac disease -MONDO:0863644 gamma-aminobutyric acid transaminase deficiency GARD:194 MONDO:equivalentTo Gamma-aminobutyric acid transaminase deficiency -MONDO:0863645 rare genetic renal disease GARD:19400 MONDO:equivalentTo Rare genetic renal disease -MONDO:0863646 rare tumor GARD:19401 MONDO:equivalentTo Rare tumor -MONDO:0863647 rare urinary tract tumor GARD:19402 MONDO:equivalentTo Rare urinary tract tumor -MONDO:0863648 rare digestive tumor GARD:19403 MONDO:equivalentTo Rare digestive tumor -MONDO:0863649 rare respiratory tumor GARD:19404 MONDO:equivalentTo Rare respiratory tumor -MONDO:0863650 rare otorhinolaryngologic tumor GARD:19405 MONDO:equivalentTo Rare otorhinolaryngologic tumor -MONDO:0863651 rare nervous system tumor GARD:19406 MONDO:equivalentTo Rare nervous system tumor -MONDO:0863652 rare gynecological tumor GARD:19407 MONDO:equivalentTo Rare gynecological tumor -MONDO:0863653 gonadal dysgenesis of gynecological interest GARD:19408 MONDO:equivalentTo Gonadal dysgenesis of gynecological interest -MONDO:0863654 46,xx disorder of sex development induced by androgens excess GARD:19409 MONDO:equivalentTo 46,XX disorder of sex development induced by androgens excess -MONDO:0863655 46,xy disorder of sex development due to a defect in testosterone metabolism by peripheral tissue GARD:19410 MONDO:equivalentTo 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue -MONDO:0863656 syndrome with 46,xy disorder of sex development GARD:19411 MONDO:equivalentTo Syndrome with 46,XY disorder of sex development -MONDO:0863657 autosomal recessive congenital cerebellar ataxia GARD:19412 MONDO:equivalentTo Autosomal recessive congenital cerebellar ataxia -MONDO:0863658 autosomal recessive metabolic cerebellar ataxia GARD:19413 MONDO:equivalentTo Autosomal recessive metabolic cerebellar ataxia -MONDO:0863659 autosomal recessive cerebellar ataxia due to a dna repair defect GARD:19414 MONDO:equivalentTo Autosomal recessive cerebellar ataxia due to a DNA repair defect -MONDO:0863660 autosomal recessive degenerative and progressive cerebellar ataxia GARD:19415 MONDO:equivalentTo Autosomal recessive degenerative and progressive cerebellar ataxia -MONDO:0863661 autosomal recessive syndromic cerebellar ataxia GARD:19416 MONDO:equivalentTo Autosomal recessive syndromic cerebellar ataxia -MONDO:0863662 autosomal anomaly GARD:19417 MONDO:equivalentTo Autosomal anomaly -MONDO:0863663 autosomal trisomy GARD:19418 MONDO:equivalentTo Autosomal trisomy -MONDO:0863664 total autosomal trisomy GARD:19419 MONDO:equivalentTo Total autosomal trisomy -MONDO:0863665 partial autosomal trisomy/tetrasomy GARD:19420 MONDO:equivalentTo Partial autosomal trisomy/tetrasomy -MONDO:0863666 total autosomal monosomy GARD:19421 MONDO:equivalentTo Total autosomal monosomy -MONDO:0863667 partial autosomal monosomy GARD:19422 MONDO:equivalentTo Partial autosomal monosomy -MONDO:0863668 autosomal uniparental disomy GARD:19423 MONDO:equivalentTo Autosomal uniparental disomy -MONDO:0863669 maternal uniparental disomy GARD:19424 MONDO:equivalentTo Maternal uniparental disomy -MONDO:0863670 paternal uniparental disomy GARD:19425 MONDO:equivalentTo Paternal uniparental disomy -MONDO:0863671 sex-chromosome anomaly GARD:19426 MONDO:equivalentTo Sex-chromosome anomaly -MONDO:0863672 sex-chromosome number anomaly GARD:19427 MONDO:equivalentTo Sex-chromosome number anomaly -MONDO:0863673 sex-chromosome structural anomaly GARD:19428 MONDO:equivalentTo Sex-chromosome structural anomaly -MONDO:0863674 chromosome y structural anomaly GARD:19429 MONDO:equivalentTo Chromosome Y structural anomaly -MONDO:0863675 chromosome x structural anomaly GARD:19430 MONDO:equivalentTo Chromosome X structural anomaly -MONDO:0863676 malformation syndrome with hamartosis GARD:19431 MONDO:equivalentTo Malformation syndrome with hamartosis -MONDO:0863677 combined dystonia GARD:19432 MONDO:equivalentTo Combined dystonia -MONDO:0863678 infectious encephalitis GARD:19433 MONDO:equivalentTo Infectious encephalitis -MONDO:0863679 chronic encephalitis GARD:19434 MONDO:equivalentTo Chronic encephalitis -MONDO:0863680 neonatal epilepsy syndrome GARD:19435 MONDO:equivalentTo Neonatal epilepsy syndrome -MONDO:0863681 infantile epilepsy syndrome GARD:19436 MONDO:equivalentTo Infantile epilepsy syndrome -MONDO:0863682 childhood-onset epilepsy syndrome GARD:19437 MONDO:equivalentTo Childhood-onset epilepsy syndrome -MONDO:0863683 adolescent-onset epilepsy syndrome GARD:19438 MONDO:equivalentTo Adolescent-onset epilepsy syndrome -MONDO:0863684 genetic non-syndromic obesity GARD:19439 MONDO:equivalentTo Genetic non-syndromic obesity -MONDO:0863685 plasma cell tumor GARD:19440 MONDO:equivalentTo Plasma cell tumor -MONDO:0863686 histiocytic and dendritic cell tumor GARD:19441 MONDO:equivalentTo Histiocytic and dendritic cell tumor -MONDO:0863687 macrophage or histiocytic tumor GARD:19442 MONDO:equivalentTo Macrophage or histiocytic tumor -MONDO:0863688 immunodeficiency-associated lymphoproliferative disease GARD:19443 MONDO:equivalentTo Immunodeficiency-associated lymphoproliferative disease -MONDO:0863689 laminopathy GARD:19444 MONDO:equivalentTo Laminopathy -MONDO:0863690 male infertility due to gonadal dysgenesis GARD:19445 MONDO:equivalentTo Male infertility due to gonadal dysgenesis -MONDO:0863691 male infertility due to obstructive azoospermia GARD:19446 MONDO:equivalentTo Male infertility due to obstructive azoospermia -MONDO:0863692 autosomal dominant isolated diffuse palmoplantar keratoderma GARD:19447 MONDO:equivalentTo Autosomal dominant isolated diffuse palmoplantar keratoderma -MONDO:0863693 autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature GARD:19448 MONDO:equivalentTo Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0863694 autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature GARD:19449 MONDO:equivalentTo Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature -MONDO:0863695 autosomal recessive isolated diffuse palmoplantar keratoderma GARD:19450 MONDO:equivalentTo Autosomal recessive isolated diffuse palmoplantar keratoderma -MONDO:0863696 autosomal recessive disease with focal palmoplantar keratoderma as a major feature GARD:19451 MONDO:equivalentTo Autosomal recessive disease with focal palmoplantar keratoderma as a major feature -MONDO:0863697 constitutional anemia due to iron metabolism disorder GARD:19452 MONDO:equivalentTo Constitutional anemia due to iron metabolism disorder -MONDO:0863698 constitutional sideroblastic anemia GARD:19453 MONDO:equivalentTo Constitutional sideroblastic anemia -MONDO:0863699 rare hemolytic anemia GARD:19454 MONDO:equivalentTo Rare hemolytic anemia -MONDO:0863700 rare constitutional hemolytic anemia due to a red cell membrane anomaly GARD:19455 MONDO:equivalentTo Rare constitutional hemolytic anemia due to a red cell membrane anomaly -MONDO:0863701 hereditary stomatocytosis GARD:19456 MONDO:equivalentTo Hereditary stomatocytosis -MONDO:0863702 constitutional hemolytic anemia due to acanthocytosis GARD:19457 MONDO:equivalentTo Constitutional hemolytic anemia due to acanthocytosis -MONDO:0863703 rare constitutional hemolytic anemia due to an enzyme disorder GARD:19458 MONDO:equivalentTo Rare constitutional hemolytic anemia due to an enzyme disorder -MONDO:0863704 hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies GARD:19459 MONDO:equivalentTo Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies -MONDO:0863705 hemolytic anemia due to a disorder of glycolytic enzymes GARD:19460 MONDO:equivalentTo Hemolytic anemia due to a disorder of glycolytic enzymes -MONDO:0863706 hemolytic anemia due to an erythrocyte nucleotide metabolism disorder GARD:19461 MONDO:equivalentTo Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder -MONDO:0863707 constitutional megaloblastic anemia due to vitamin b12 metabolism disorder GARD:19462 MONDO:equivalentTo Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder -MONDO:0863708 constitutional megaloblastic anemia due to folate metabolism disorder GARD:19463 MONDO:equivalentTo Constitutional megaloblastic anemia due to folate metabolism disorder -MONDO:0863709 vitamin b12- and folate-independent constitutional megaloblastic anemia GARD:19464 MONDO:equivalentTo Vitamin B12- and folate-independent constitutional megaloblastic anemia -MONDO:0863710 primary acquired red cell aplasia GARD:19465 MONDO:equivalentTo Primary acquired red cell aplasia -MONDO:0863711 polycythemia GARD:19466 MONDO:equivalentTo Polycythemia -MONDO:0863712 secondary polycythemia GARD:19467 MONDO:equivalentTo Secondary polycythemia -MONDO:0863713 rare coagulation disorder GARD:19468 MONDO:equivalentTo Rare coagulation disorder -MONDO:0863714 alpha granule disease GARD:19469 MONDO:equivalentTo Alpha granule disease -MONDO:0863715 dense granule disease GARD:19470 MONDO:equivalentTo Dense granule disease -MONDO:0863716 skeletal muscle disease GARD:19471 MONDO:equivalentTo Skeletal muscle disease -MONDO:0863717 metabolic myopathy GARD:19472 MONDO:equivalentTo Metabolic myopathy -MONDO:0863718 neuromuscular junction disease GARD:19473 MONDO:equivalentTo Neuromuscular junction disease -MONDO:0863719 acquired neuromuscular junction disease GARD:19474 MONDO:equivalentTo Acquired neuromuscular junction disease -MONDO:0863720 genetic neuromuscular junction disease GARD:19475 MONDO:equivalentTo Genetic neuromuscular junction disease -MONDO:0863721 rare peripheral neuropathy GARD:19476 MONDO:equivalentTo Rare peripheral neuropathy -MONDO:0863722 motor neuron disease GARD:19477 MONDO:equivalentTo Motor neuron disease -MONDO:0863723 genetic motor neuron disease GARD:19478 MONDO:equivalentTo Genetic motor neuron disease -MONDO:0863724 acquired motor neuron disease GARD:19479 MONDO:equivalentTo Acquired motor neuron disease -MONDO:0863725 malformation of the cerebellar vermis GARD:19480 MONDO:equivalentTo Malformation of the cerebellar vermis -MONDO:0863726 malformation of the cerebellar hemispheres GARD:19481 MONDO:equivalentTo Malformation of the cerebellar hemispheres -MONDO:0863727 cranial nerve and nuclear aplasia GARD:19482 MONDO:equivalentTo Cranial nerve and nuclear aplasia -MONDO:0863728 posterior fossa malformation GARD:19483 MONDO:equivalentTo Posterior fossa malformation -MONDO:0863729 neurodegenerative disease with dementia GARD:19484 MONDO:equivalentTo Neurodegenerative disease with dementia -MONDO:0863730 frontotemporal degeneration with dementia GARD:19485 MONDO:equivalentTo Frontotemporal degeneration with dementia -MONDO:0863731 ataxia with dementia GARD:19486 MONDO:equivalentTo Ataxia with dementia -MONDO:0863732 early-onset ataxia with dementia GARD:19487 MONDO:equivalentTo Early-onset ataxia with dementia -MONDO:0863733 late-onset ataxia with dementia GARD:19488 MONDO:equivalentTo Late-onset ataxia with dementia -MONDO:0863734 infectious disease with dementia GARD:19489 MONDO:equivalentTo Infectious disease with dementia -MONDO:0863735 metabolic disease with dementia GARD:19490 MONDO:equivalentTo Metabolic disease with dementia -MONDO:0863736 cerebral lipidosis with dementia GARD:19491 MONDO:equivalentTo Cerebral lipidosis with dementia -MONDO:0863737 rare cerebrovascular dementia GARD:19492 MONDO:equivalentTo Rare cerebrovascular dementia -MONDO:0863738 microphthalmia-anophthalmia-coloboma GARD:19493 MONDO:equivalentTo Microphthalmia-anophthalmia-coloboma -MONDO:0863739 syndromic aniridia GARD:19494 MONDO:equivalentTo Syndromic aniridia -MONDO:0863740 rare palpebral disorder GARD:19495 MONDO:equivalentTo Rare palpebral disorder -MONDO:0863741 congenital malformation of the eyelid GARD:19496 MONDO:equivalentTo Congenital malformation of the eyelid -MONDO:0863742 microblepharon-ablephara syndrome GARD:19497 MONDO:equivalentTo Microblepharon-ablephara syndrome -MONDO:0863743 eyelid border anomaly GARD:19498 MONDO:equivalentTo Eyelid border anomaly -MONDO:0863744 syndromic ankyloblepharon filiforme adnatum GARD:19499 MONDO:equivalentTo Syndromic ankyloblepharon filiforme adnatum -MONDO:0863745 hyperkalemic periodic paralysis GARD:195 MONDO:equivalentTo Hyperkalemic periodic paralysis -MONDO:0863746 syndromic eyelid coloboma GARD:19500 MONDO:equivalentTo Syndromic eyelid coloboma -MONDO:0863747 rare eyelid malposition disorder GARD:19501 MONDO:equivalentTo Rare eyelid malposition disorder -MONDO:0863748 congenital ectropion GARD:19502 MONDO:equivalentTo Congenital ectropion -MONDO:0863749 secondary ectropion GARD:19503 MONDO:equivalentTo Secondary ectropion -MONDO:0863750 syndromic epicanthus GARD:19504 MONDO:equivalentTo Syndromic epicanthus -MONDO:0863751 syndromic telecanthus GARD:19505 MONDO:equivalentTo Syndromic telecanthus -MONDO:0863752 syndromic outer canthal malposition GARD:19506 MONDO:equivalentTo Syndromic outer canthal malposition -MONDO:0863753 rare disorder with ptosis GARD:19507 MONDO:equivalentTo Rare disorder with ptosis -MONDO:0863754 rare eyebrow/eyelash disorder GARD:19508 MONDO:equivalentTo Rare eyebrow/eyelash disorder -MONDO:0863755 rare disorder of the lacrimal apparatus GARD:19509 MONDO:equivalentTo Rare disorder of the lacrimal apparatus -MONDO:0863756 congenital alacrima GARD:19510 MONDO:equivalentTo Congenital alacrima -MONDO:0863757 lacrimal drainage system anomaly GARD:19511 MONDO:equivalentTo Lacrimal drainage system anomaly -MONDO:0863758 eec syndrome and related disorders GARD:19512 MONDO:equivalentTo EEC syndrome and related disorders -MONDO:0863759 rare disorder with conjunctival involvement as a major feature GARD:19513 MONDO:equivalentTo Rare disorder with conjunctival involvement as a major feature -MONDO:0863760 rare refraction anomaly GARD:19514 MONDO:equivalentTo Rare refraction anomaly -MONDO:0863761 rare hyperopia and astigmatism GARD:19515 MONDO:equivalentTo Rare hyperopia and astigmatism -MONDO:0863762 syndromic hyperopia GARD:19516 MONDO:equivalentTo Syndromic hyperopia -MONDO:0863763 syndromic keratoconus GARD:19517 MONDO:equivalentTo Syndromic keratoconus -MONDO:0863764 superficial corneal dystrophy GARD:19518 MONDO:equivalentTo Superficial corneal dystrophy -MONDO:0863765 stromal corneal dystrophy GARD:19519 MONDO:equivalentTo Stromal corneal dystrophy -MONDO:0863766 posterior corneal dystrophy GARD:19520 MONDO:equivalentTo Posterior corneal dystrophy -MONDO:0863767 syndromic corneal dystrophy GARD:19521 MONDO:equivalentTo Syndromic corneal dystrophy -MONDO:0863768 congenital malformation of the eye with glaucoma as a major feature GARD:19522 MONDO:equivalentTo Congenital malformation of the eye with glaucoma as a major feature -MONDO:0863769 corneodysgenesis GARD:19523 MONDO:equivalentTo Corneodysgenesis -MONDO:0863770 rare disease with glaucoma as a major feature GARD:19524 MONDO:equivalentTo Rare disease with glaucoma as a major feature -MONDO:0863771 rare lens disease GARD:19525 MONDO:equivalentTo Rare lens disease -MONDO:0863772 rare disorder with lens opacification GARD:19526 MONDO:equivalentTo Rare disorder with lens opacification -MONDO:0863773 syndromic cataract GARD:19527 MONDO:equivalentTo Syndromic cataract -MONDO:0863774 chromosomal anomaly with cataract GARD:19528 MONDO:equivalentTo Chromosomal anomaly with cataract -MONDO:0863775 metabolic disease with cataract GARD:19529 MONDO:equivalentTo Metabolic disease with cataract -MONDO:0863776 renal disease with cataract GARD:19530 MONDO:equivalentTo Renal disease with cataract -MONDO:0863777 musculoskeletal disease with cataract GARD:19531 MONDO:equivalentTo Musculoskeletal disease with cataract -MONDO:0863778 dentocutaneous disease with cataract GARD:19532 MONDO:equivalentTo Dentocutaneous disease with cataract -MONDO:0863779 craniofacial anomaly with cataract GARD:19533 MONDO:equivalentTo Craniofacial anomaly with cataract -MONDO:0863780 lens size anomaly GARD:19534 MONDO:equivalentTo Lens size anomaly -MONDO:0863781 lens position anomaly GARD:19535 MONDO:equivalentTo Lens position anomaly -MONDO:0863782 lens shape anomaly GARD:19536 MONDO:equivalentTo Lens shape anomaly -MONDO:0863783 color-vision disease GARD:19537 MONDO:equivalentTo Color-vision disease -MONDO:0863784 syndromic rod-cone dystrophy GARD:19538 MONDO:equivalentTo Syndromic rod-cone dystrophy -MONDO:0863785 vitreoretinopathy GARD:19539 MONDO:equivalentTo Vitreoretinopathy -MONDO:0863786 hereditary optic neuropathy GARD:19540 MONDO:equivalentTo Hereditary optic neuropathy -MONDO:0863787 rare disorder with strabismus GARD:19541 MONDO:equivalentTo Rare disorder with strabismus -MONDO:0863788 syndromic disorder with strabismus GARD:19542 MONDO:equivalentTo Syndromic disorder with strabismus -MONDO:0863789 craniostenosis with strabismus GARD:19543 MONDO:equivalentTo Craniostenosis with strabismus -MONDO:0863790 rare oculomotor nerve disorder GARD:19544 MONDO:equivalentTo Rare oculomotor nerve disorder -MONDO:0863791 congenital trochlear nerve palsy GARD:19545 MONDO:equivalentTo Congenital trochlear nerve palsy -MONDO:0863792 supranuclear eye movement disorder GARD:19546 MONDO:equivalentTo Supranuclear eye movement disorder -MONDO:0863793 oculomotor apraxia GARD:19547 MONDO:equivalentTo Oculomotor apraxia -MONDO:0863794 oculocutaneous or ocular albinism GARD:19548 MONDO:equivalentTo Oculocutaneous or ocular albinism -MONDO:0863795 uveitis GARD:19549 MONDO:equivalentTo Uveitis -MONDO:0863796 heart position anomaly GARD:19550 MONDO:equivalentTo Heart position anomaly -MONDO:0863797 transposition of the great arteries and conotruncal cardiac anomaly GARD:19551 MONDO:equivalentTo Transposition of the great arteries and conotruncal cardiac anomaly -MONDO:0863798 aortic malformation GARD:19552 MONDO:equivalentTo Aortic malformation -MONDO:0863799 pulmonary artery or pulmonary branch anomaly GARD:19553 MONDO:equivalentTo Pulmonary artery or pulmonary branch anomaly -MONDO:0863800 atrioventricular valve anomaly GARD:19554 MONDO:equivalentTo Atrioventricular valve anomaly -MONDO:0863801 congenital tricuspid malformation GARD:19555 MONDO:equivalentTo Congenital tricuspid malformation -MONDO:0863802 congenital anomaly of the great arteries GARD:19556 MONDO:equivalentTo Congenital anomaly of the great arteries -MONDO:0863803 ascending aorta anomaly GARD:19557 MONDO:equivalentTo Ascending aorta anomaly -MONDO:0863804 rare atrial defect and interatrial communication GARD:19558 MONDO:equivalentTo Rare atrial defect and interatrial communication -MONDO:0863805 congenital pulmonary veins anomaly GARD:19559 MONDO:equivalentTo Congenital pulmonary veins anomaly -MONDO:0863806 congenital arteriovenous fistula GARD:19560 MONDO:equivalentTo Congenital arteriovenous fistula -MONDO:0863807 noonan syndrome and noonan-related syndrome GARD:19561 MONDO:equivalentTo Noonan syndrome and Noonan-related syndrome -MONDO:0863808 genetic neurological muscular channelopathy GARD:19562 MONDO:equivalentTo Genetic neurological muscular channelopathy -MONDO:0863809 neurological muscular channelopathy due to a genetic sodium channel defect GARD:19563 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0863810 neurological muscular channelopathy due to a genetic chloride channel defect GARD:19564 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic chloride channel defect -MONDO:0863811 neurological muscular channelopathy due to a genetic calcium channel defect GARD:19565 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic calcium channel defect -MONDO:0863812 neurological muscular channelopathy due to a genetic potassium channel defect GARD:19566 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic potassium channel defect -MONDO:0863813 neurological muscular channelopathy due to a genetic ryanodine receptor defect GARD:19567 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic ryanodine receptor defect -MONDO:0863814 genetic neurological channelopathy of the central nervous system GARD:19568 MONDO:equivalentTo Genetic neurological channelopathy of the central nervous system -MONDO:0863815 neurological channelopathy of the central nervous system due to a genetic sodium channel defect GARD:19569 MONDO:equivalentTo Neurological channelopathy of the central nervous system due to a genetic sodium channel defect -MONDO:0863816 neurological channelopathy of the central nervous system due to a genetic calcium channel defect GARD:19570 MONDO:equivalentTo Neurological channelopathy of the central nervous system due to a genetic calcium channel defect -MONDO:0863817 neurological channelopathy of the central nervous system due to a genetic potassium channel defect GARD:19571 MONDO:equivalentTo Neurological channelopathy of the central nervous system due to a genetic potassium channel defect -MONDO:0863818 neurological channelopathy of the central nervous system due to a genetic glycine receptor defect GARD:19572 MONDO:equivalentTo Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect -MONDO:0863819 neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect GARD:19573 MONDO:equivalentTo Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect -MONDO:0863820 neurological channelopathy of the central nervous system due to a genetic gaba receptor defect GARD:19574 MONDO:equivalentTo Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect -MONDO:0863821 autoimmune neurological channelopathy GARD:19575 MONDO:equivalentTo Autoimmune neurological channelopathy -MONDO:0863822 prader-willi syndrome due to paternal 15q11q13 deletion GARD:19576 MONDO:equivalentTo Prader-Willi syndrome due to paternal 15q11q13 deletion -MONDO:0863823 angelman syndrome due to maternal 15q11q13 deletion GARD:19577 MONDO:equivalentTo Angelman syndrome due to maternal 15q11q13 deletion -MONDO:0863824 angelman syndrome due to paternal uniparental disomy of chromosome 15 GARD:19578 MONDO:equivalentTo Angelman syndrome due to paternal uniparental disomy of chromosome 15 -MONDO:0863825 isochromosomy yp GARD:19579 MONDO:equivalentTo Isochromosomy Yp -MONDO:0863826 isochromosomy yq GARD:19580 MONDO:equivalentTo Isochromosomy Yq -MONDO:0863827 benign childhood occipital epilepsy, panayiotopoulos type GARD:19581 MONDO:equivalentTo Benign childhood occipital epilepsy, Panayiotopoulos type -MONDO:0863828 benign childhood occipital epilepsy, gastaut type GARD:19582 MONDO:equivalentTo Benign childhood occipital epilepsy, Gastaut type -MONDO:0863829 atypical chronic myeloid leukemia GARD:19583 MONDO:equivalentTo Atypical chronic myeloid leukemia -MONDO:0863830 unclassified myelodysplastic/myeloproliferative disease GARD:19584 MONDO:equivalentTo Unclassified myelodysplastic/myeloproliferative disease -MONDO:0863831 refractory anemia GARD:19585 MONDO:equivalentTo Refractory anemia -MONDO:0863832 unclassified myelodysplastic syndrome GARD:19586 MONDO:equivalentTo Unclassified myelodysplastic syndrome -MONDO:0863833 acute myeloid leukemia with 11q23 abnormalities GARD:19587 MONDO:equivalentTo Acute myeloid leukemia with 11q23 abnormalities -MONDO:0863834 acute myeloid leukemia with minimal differentiation GARD:19588 MONDO:equivalentTo Acute myeloid leukemia with minimal differentiation -MONDO:0863835 primary mediastinal large b-cell lymphoma GARD:19589 MONDO:equivalentTo Primary mediastinal large B-cell lymphoma -MONDO:0863836 intravascular large b-cell lymphoma GARD:19590 MONDO:equivalentTo Intravascular large B-cell lymphoma -MONDO:0863837 classic hodgkin lymphoma, nodular sclerosis type GARD:19591 MONDO:equivalentTo Classic Hodgkin lymphoma, nodular sclerosis type -MONDO:0863838 classic hodgkin lymphoma, mixed cellularity type GARD:19592 MONDO:equivalentTo Classic Hodgkin lymphoma, mixed cellularity type -MONDO:0863839 classic hodgkin lymphoma, lymphocyte-rich type GARD:19593 MONDO:equivalentTo Classic Hodgkin lymphoma, lymphocyte-rich type -MONDO:0863840 classic hodgkin lymphoma, lymphocyte-depleted type GARD:19594 MONDO:equivalentTo Classic Hodgkin lymphoma, lymphocyte-depleted type -MONDO:0863841 indolent systemic mastocytosis GARD:19595 MONDO:equivalentTo Indolent systemic mastocytosis -MONDO:0863842 systemic mastocytosis with associated hematologic neoplasm GARD:19596 MONDO:equivalentTo Systemic mastocytosis with associated hematologic neoplasm -MONDO:0863843 aggressive systemic mastocytosis GARD:19597 MONDO:equivalentTo Aggressive systemic mastocytosis -MONDO:0863844 mast cell leukemia GARD:19598 MONDO:equivalentTo Mast cell leukemia -MONDO:0863845 x-linked complex spastic paraplegia GARD:19599 MONDO:equivalentTo X-linked complex spastic paraplegia -MONDO:0863846 alpha-crystallinopathy GARD:19600 MONDO:equivalentTo Alpha-crystallinopathy -MONDO:0863847 acute motor and sensory axonal neuropathy GARD:19601 MONDO:equivalentTo Acute motor and sensory axonal neuropathy -MONDO:0863848 acute motor axonal neuropathy GARD:19602 MONDO:equivalentTo Acute motor axonal neuropathy -MONDO:0863849 blake pouch cyst GARD:19603 MONDO:equivalentTo Blake pouch cyst -MONDO:0863850 multiple system atrophy, parkinsonian type GARD:19604 MONDO:equivalentTo Multiple system atrophy, parkinsonian type -MONDO:0863851 coloboma of eyelid GARD:19605 MONDO:equivalentTo Coloboma of eyelid -MONDO:0863852 congenital symblepharon GARD:19606 MONDO:equivalentTo Congenital symblepharon -MONDO:0863853 partial cryptophthalmia GARD:19607 MONDO:equivalentTo Partial cryptophthalmia -MONDO:0863854 inverse marcus-gunn phenomenon GARD:19608 MONDO:equivalentTo Inverse Marcus-Gunn phenomenon -MONDO:0863855 climatic droplet keratopathy GARD:19609 MONDO:equivalentTo Climatic droplet keratopathy -MONDO:0863856 congenital hereditary endothelial dystrophy type i GARD:19610 MONDO:equivalentTo Congenital hereditary endothelial dystrophy type I -MONDO:0863857 essential iris atrophy GARD:19611 MONDO:equivalentTo Essential iris atrophy -MONDO:0863858 multifocal pattern dystrophy simulating fundus flavimaculatus GARD:19612 MONDO:equivalentTo Multifocal pattern dystrophy simulating fundus flavimaculatus -MONDO:0863859 fundus pulverulentus GARD:19613 MONDO:equivalentTo Fundus pulverulentus -MONDO:0863860 congenitally uncorrected transposition of the great arteries with coarctation GARD:19614 MONDO:equivalentTo Congenitally uncorrected transposition of the great arteries with coarctation -MONDO:0863861 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis GARD:19615 MONDO:equivalentTo Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis -MONDO:0863862 double outlet right ventricle with subpulmonary ventricular septal defect GARD:19616 MONDO:equivalentTo Double outlet right ventricle with subpulmonary ventricular septal defect -MONDO:0863863 double outlet right ventricle with non-committed subpulmonary ventricular septal defect GARD:19617 MONDO:equivalentTo Double outlet right ventricle with non-committed subpulmonary ventricular septal defect -MONDO:0863864 pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome GARD:19618 MONDO:equivalentTo Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome -MONDO:0863865 pulmonary artery coming from patent ductus arteriosus GARD:19619 MONDO:equivalentTo Pulmonary artery coming from patent ductus arteriosus -MONDO:0863866 discrete fibromuscular subaortic stenosis GARD:19620 MONDO:equivalentTo Discrete fibromuscular subaortic stenosis -MONDO:0863867 tunnel subaortic stenosis GARD:19621 MONDO:equivalentTo Tunnel subaortic stenosis -MONDO:0863868 valvular pulmonary stenosis GARD:19622 MONDO:equivalentTo Valvular pulmonary stenosis -MONDO:0863869 congenital anomaly of the tricuspid valve chordae GARD:19623 MONDO:equivalentTo Congenital anomaly of the tricuspid valve chordae -MONDO:0863870 parachute tricuspid valve GARD:19624 MONDO:equivalentTo Parachute tricuspid valve -MONDO:0863871 hypoplasia of the mitral valve annulus GARD:19625 MONDO:equivalentTo Hypoplasia of the mitral valve annulus -MONDO:0863872 congenital supravalvular mitral ring GARD:19626 MONDO:equivalentTo Congenital supravalvular mitral ring -MONDO:0863873 congenital unguarded mitral orifice GARD:19627 MONDO:equivalentTo Congenital unguarded mitral orifice -MONDO:0863874 accessory mitral valve tissue GARD:19628 MONDO:equivalentTo Accessory mitral valve tissue -MONDO:0863875 mitral valve agenesis GARD:19629 MONDO:equivalentTo Mitral valve agenesis -MONDO:0863876 shone complex GARD:19630 MONDO:equivalentTo Shone complex -MONDO:0863877 straddling and/or overriding mitral valve GARD:19631 MONDO:equivalentTo Straddling and/or overriding mitral valve -MONDO:0863878 aorto-right ventricular tunnel GARD:19632 MONDO:equivalentTo Aorto-right ventricular tunnel -MONDO:0863879 aorto-left ventricular tunnel GARD:19633 MONDO:equivalentTo Aorto-left ventricular tunnel -MONDO:0863880 congenital patent ductus arteriosus aneurysm GARD:19634 MONDO:equivalentTo Congenital patent ductus arteriosus aneurysm -MONDO:0863881 encircling double aortic arch GARD:19635 MONDO:equivalentTo Encircling double aortic arch -MONDO:0863882 persistent fifth aortic arch GARD:19636 MONDO:equivalentTo Persistent fifth aortic arch -MONDO:0863883 kommerell diverticulum GARD:19637 MONDO:equivalentTo Kommerell diverticulum -MONDO:0863884 neuhauser anomaly GARD:19638 MONDO:equivalentTo Neuhauser anomaly -MONDO:0863885 cervical aortic arch GARD:19639 MONDO:equivalentTo Cervical aortic arch -MONDO:0863886 right aortic arch GARD:19640 MONDO:equivalentTo Right aortic arch -MONDO:0863887 dysphagia lusoria GARD:19641 MONDO:equivalentTo Dysphagia lusoria -MONDO:0863888 pulmonary artery hypoplasia GARD:19642 MONDO:equivalentTo Pulmonary artery hypoplasia -MONDO:0863889 coronary ostial stenosis or atresia GARD:19643 MONDO:equivalentTo Coronary ostial stenosis or atresia -MONDO:0863890 abnormal number of coronary ostia GARD:19644 MONDO:equivalentTo Abnormal number of coronary ostia -MONDO:0863891 malposition of a coronary ostium GARD:19645 MONDO:equivalentTo Malposition of a coronary ostium -MONDO:0863892 laubry-pezzi syndrome GARD:19646 MONDO:equivalentTo Laubry-Pezzi syndrome -MONDO:0863893 congenital gerbode defect GARD:19647 MONDO:equivalentTo Congenital Gerbode defect -MONDO:0863894 juxtaposition of the atrial appendages GARD:19648 MONDO:equivalentTo Juxtaposition of the atrial appendages -MONDO:0863895 ectasia of the right atrial appendage GARD:19649 MONDO:equivalentTo Ectasia of the right atrial appendage -MONDO:0863896 ectasia of the left atrial appendage GARD:19650 MONDO:equivalentTo Ectasia of the left atrial appendage -MONDO:0863897 atrial septal aneurysm GARD:19651 MONDO:equivalentTo Atrial septal aneurysm -MONDO:0863898 persistent left superior vena cava connecting through coronary sinus to left-sided atrium GARD:19652 MONDO:equivalentTo Persistent left superior vena cava connecting through coronary sinus to left-sided atrium -MONDO:0863899 right superior vena cava connecting to left-sided atrium GARD:19653 MONDO:equivalentTo Right superior vena cava connecting to left-sided atrium -MONDO:0863900 persistent left superior vena cava connecting to the roof of left-sided atrium GARD:19654 MONDO:equivalentTo Persistent left superior vena cava connecting to the roof of left-sided atrium -MONDO:0863901 absence of innominate vein GARD:19655 MONDO:equivalentTo Absence of innominate vein -MONDO:0863902 subaortic course of innominate vein GARD:19656 MONDO:equivalentTo Subaortic course of innominate vein -MONDO:0863903 agenesis of the superior vena cava GARD:19657 MONDO:equivalentTo Agenesis of the superior vena cava -MONDO:0863904 coronary sinus stenosis GARD:19658 MONDO:equivalentTo Coronary sinus stenosis -MONDO:0863905 coronary sinus atresia GARD:19659 MONDO:equivalentTo Coronary sinus atresia -MONDO:0863906 right inferior vena cava connecting to left-sided atrium GARD:19660 MONDO:equivalentTo Right inferior vena cava connecting to left-sided atrium -MONDO:0863907 persistent eustachian valve GARD:19661 MONDO:equivalentTo Persistent eustachian valve -MONDO:0863908 azygos continuation of the inferior vena cava GARD:19662 MONDO:equivalentTo Azygos continuation of the inferior vena cava -MONDO:0863909 congenital stenosis of the inferior vena cava GARD:19663 MONDO:equivalentTo Congenital stenosis of the inferior vena cava -MONDO:0863910 inferior vena cava interruption without azygos continuation GARD:19664 MONDO:equivalentTo Inferior vena cava interruption without azygos continuation -MONDO:0863911 congenital partial pulmonary venous return anomaly GARD:19665 MONDO:equivalentTo Congenital partial pulmonary venous return anomaly -MONDO:0863912 congenital complete agenesis of pericardium GARD:19666 MONDO:equivalentTo Congenital complete agenesis of pericardium -MONDO:0863913 congenital partial agenesis of pericardium GARD:19667 MONDO:equivalentTo Congenital partial agenesis of pericardium -MONDO:0863914 pleuro-pericardial cyst GARD:19668 MONDO:equivalentTo Pleuro-pericardial cyst -MONDO:0863915 hemolytic anemia due to erythrocyte adenosine deaminase overproduction GARD:19669 MONDO:equivalentTo Hemolytic anemia due to erythrocyte adenosine deaminase overproduction -MONDO:0863916 unstable hemoglobin disease GARD:19670 MONDO:equivalentTo Unstable hemoglobin disease -MONDO:0863917 epiblepharon GARD:19671 MONDO:equivalentTo Epiblepharon -MONDO:0863918 tarsal kink syndrome GARD:19672 MONDO:equivalentTo Tarsal kink syndrome -MONDO:0863919 isolated congenital ectropion GARD:19673 MONDO:equivalentTo Isolated congenital ectropion -MONDO:0863920 euryblepharon GARD:19674 MONDO:equivalentTo Euryblepharon -MONDO:0863921 congenital eyelid retraction GARD:19675 MONDO:equivalentTo Congenital eyelid retraction -MONDO:0863922 monosomy x GARD:19676 MONDO:equivalentTo Monosomy X -MONDO:0863923 mosaic monosomy x GARD:19677 MONDO:equivalentTo Mosaic monosomy X -MONDO:0863924 paternal uniparental disomy of chromosome 13 GARD:19678 MONDO:equivalentTo Paternal uniparental disomy of chromosome 13 -MONDO:0863925 49,xyyyy syndrome GARD:19679 MONDO:equivalentTo 49,XYYYY syndrome -MONDO:0863926 pituitary adenoma GARD:19680 MONDO:equivalentTo Pituitary adenoma -MONDO:0863927 turner syndrome due to structural x chromosome anomalies GARD:19681 MONDO:equivalentTo Turner syndrome due to structural X chromosome anomalies -MONDO:0863928 cheirospondyloenchondromatosis GARD:19682 MONDO:equivalentTo Cheirospondyloenchondromatosis -MONDO:0863929 dermotrichic syndrome GARD:19683 MONDO:equivalentTo Dermotrichic syndrome -MONDO:0863930 mesial temporal lobe epilepsy with hippocampal sclerosis GARD:19684 MONDO:equivalentTo Mesial temporal lobe epilepsy with hippocampal sclerosis -MONDO:0863931 early-onset obesity-hyperphagia-severe developmental delay syndrome GARD:19685 MONDO:equivalentTo Early-onset obesity-hyperphagia-severe developmental delay syndrome -MONDO:0863932 rare familial disorder with hypertrophic cardiomyopathy GARD:19686 MONDO:equivalentTo Rare familial disorder with hypertrophic cardiomyopathy -MONDO:0863933 bifid uvula GARD:19687 MONDO:equivalentTo Bifid uvula -MONDO:0863934 lassa fever GARD:19688 MONDO:equivalentTo Lassa fever -MONDO:0863935 nipah virus disease GARD:19689 MONDO:equivalentTo Nipah virus disease -MONDO:0863936 crimean-congo hemorrhagic fever GARD:19690 MONDO:equivalentTo Crimean-Congo hemorrhagic fever -MONDO:0863937 primary syringomyelia GARD:19691 MONDO:equivalentTo Primary syringomyelia -MONDO:0863938 secondary syringomyelia GARD:19692 MONDO:equivalentTo Secondary syringomyelia -MONDO:0863939 idiopathic syringomyelia GARD:19693 MONDO:equivalentTo Idiopathic syringomyelia -MONDO:0863940 precursor t-cell acute lymphoblastic leukemia GARD:19694 MONDO:equivalentTo Precursor T-cell acute lymphoblastic leukemia -MONDO:0863941 thymic carcinoma GARD:19695 MONDO:equivalentTo Thymic carcinoma -MONDO:0863942 thymic neuroendocrine carcinoma GARD:19696 MONDO:equivalentTo Thymic neuroendocrine carcinoma -MONDO:0863943 acute megakaryoblastic leukemia in down syndrome GARD:19697 MONDO:equivalentTo Acute megakaryoblastic leukemia in Down syndrome -MONDO:0863944 cushing syndrome due to ectopic acth secretion GARD:19698 MONDO:equivalentTo Cushing syndrome due to ectopic ACTH secretion -MONDO:0863945 acth-dependent cushing syndrome GARD:19699 MONDO:equivalentTo ACTH-dependent Cushing syndrome -MONDO:0863946 acth-independent cushing syndrome GARD:19700 MONDO:equivalentTo ACTH-independent Cushing syndrome -MONDO:0863947 spirillary rat-bite fever GARD:19701 MONDO:equivalentTo Spirillary rat-bite fever -MONDO:0863948 streptobacillary rat-bite fever GARD:19702 MONDO:equivalentTo Streptobacillary rat-bite fever -MONDO:0863949 house allergic alveolitis GARD:19703 MONDO:equivalentTo House allergic alveolitis -MONDO:0863950 occupational allergic alveolitis GARD:19704 MONDO:equivalentTo Occupational allergic alveolitis -MONDO:0863951 malignant dysgerminomatous germ cell tumor of the ovary GARD:19705 MONDO:equivalentTo Malignant dysgerminomatous germ cell tumor of the ovary -MONDO:0863952 extragonadal non-dysgerminomatous germ cell tumor GARD:19706 MONDO:equivalentTo Extragonadal non-dysgerminomatous germ cell tumor -MONDO:0863953 maligant granulosa cell tumor of the ovary GARD:19707 MONDO:equivalentTo Maligant granulosa cell tumor of the ovary -MONDO:0863954 theca steroid-producing cell malignant tumor of ovary, not further specified GARD:19708 MONDO:equivalentTo Theca steroid-producing cell malignant tumor of ovary, not further specified -MONDO:0863955 streptococcal toxic-shock syndrome GARD:19709 MONDO:equivalentTo Streptococcal toxic-shock syndrome -MONDO:0863956 staphylococcal toxic-shock syndrome GARD:19710 MONDO:equivalentTo Staphylococcal toxic-shock syndrome -MONDO:0863957 invasive mole GARD:19711 MONDO:equivalentTo Invasive mole -MONDO:0863958 gestational choriocarcinoma GARD:19712 MONDO:equivalentTo Gestational choriocarcinoma -MONDO:0863959 secondary pulmonary hemosiderosis GARD:19713 MONDO:equivalentTo Secondary pulmonary hemosiderosis -MONDO:0863960 heiner syndrome GARD:19714 MONDO:equivalentTo Heiner syndrome -MONDO:0863961 pleuropulmonary blastoma type 1 GARD:19715 MONDO:equivalentTo Pleuropulmonary blastoma type 1 -MONDO:0863962 pleuropulmonary blastoma type 2 GARD:19716 MONDO:equivalentTo Pleuropulmonary blastoma type 2 -MONDO:0863963 pleuropulmonary blastoma type 3 GARD:19717 MONDO:equivalentTo Pleuropulmonary blastoma type 3 -MONDO:0863964 o'sullivan-mcleod syndrome GARD:19718 MONDO:equivalentTo O'Sullivan-McLeod syndrome -MONDO:0863965 pleomorphic liposarcoma GARD:19719 MONDO:equivalentTo Pleomorphic liposarcoma -MONDO:0863966 dedifferentiated liposarcoma GARD:19720 MONDO:equivalentTo Dedifferentiated liposarcoma -MONDO:0863967 well-differentiated liposarcoma GARD:19721 MONDO:equivalentTo Well-differentiated liposarcoma -MONDO:0863968 apnea of prematurity GARD:19722 MONDO:equivalentTo Apnea of prematurity -MONDO:0863969 cutaneous myiasis GARD:19723 MONDO:equivalentTo Cutaneous myiasis -MONDO:0863970 intermediate dend syndrome GARD:19724 MONDO:equivalentTo Intermediate DEND syndrome -MONDO:0863971 brill-zinsser disease GARD:19725 MONDO:equivalentTo Brill-Zinsser disease -MONDO:0863972 relapsing epidemic typhus GARD:19726 MONDO:equivalentTo Relapsing epidemic typhus -MONDO:0863973 complex regional pain syndrome type 2 GARD:19727 MONDO:equivalentTo Complex regional pain syndrome type 2 -MONDO:0863974 reticular perineurioma GARD:19728 MONDO:equivalentTo Reticular perineurioma -MONDO:0863975 sclerosing perineurioma GARD:19729 MONDO:equivalentTo Sclerosing perineurioma -MONDO:0863976 extraneural perineurioma GARD:19730 MONDO:equivalentTo Extraneural perineurioma -MONDO:0863977 lissencephaly with cerebellar hypoplasia type a GARD:19731 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia type A -MONDO:0863978 lissencephaly with cerebellar hypoplasia type b GARD:19732 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia type B -MONDO:0863979 lissencephaly with cerebellar hypoplasia type c GARD:19733 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia type C -MONDO:0863980 lissencephaly with cerebellar hypoplasia type d GARD:19734 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia type D -MONDO:0863981 lissencephaly with cerebellar hypoplasia type e GARD:19735 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia type E -MONDO:0863982 lissencephaly with cerebellar hypoplasia type f GARD:19736 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia type F -MONDO:0863983 refractory anemia with excess blasts type 1 GARD:19737 MONDO:equivalentTo Refractory anemia with excess blasts type 1 -MONDO:0863984 refractory anemia with excess blasts type 2 GARD:19738 MONDO:equivalentTo Refractory anemia with excess blasts type 2 -MONDO:0863985 primary plasmacytoma of the bone GARD:19739 MONDO:equivalentTo Primary plasmacytoma of the bone -MONDO:0863986 extramedullary soft tissue plasmacytoma GARD:19740 MONDO:equivalentTo Extramedullary soft tissue plasmacytoma -MONDO:0863987 mu-heavy chain disease GARD:19741 MONDO:equivalentTo Mu-heavy chain disease -MONDO:0863988 alpha-heavy chain disease GARD:19742 MONDO:equivalentTo Alpha-heavy chain disease -MONDO:0863989 solitary necrotic nodule of the liver GARD:19743 MONDO:equivalentTo Solitary necrotic nodule of the liver -MONDO:0863990 esophageal duplication cyst GARD:19744 MONDO:equivalentTo Esophageal duplication cyst -MONDO:0863991 tubular duplication of the esophagus GARD:19745 MONDO:equivalentTo Tubular duplication of the esophagus -MONDO:0863992 primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies GARD:19746 MONDO:equivalentTo Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies -MONDO:0863993 acquired angioedema type 2 GARD:19747 MONDO:equivalentTo Acquired angioedema type 2 -MONDO:0863994 acquired angioedema type 1 GARD:19748 MONDO:equivalentTo Acquired angioedema type 1 -MONDO:0863995 neurogenic thoracic outlet syndrome GARD:19749 MONDO:equivalentTo Neurogenic thoracic outlet syndrome -MONDO:0863996 duplication of urethra GARD:1975 MONDO:equivalentTo Duplication of urethra -MONDO:0863997 neuroendocrine tumor of stomach GARD:19750 MONDO:equivalentTo Neuroendocrine tumor of stomach -MONDO:0863998 duodenal neuroendocrine tumor GARD:19751 MONDO:equivalentTo Duodenal neuroendocrine tumor -MONDO:0863999 jejunal neuroendocrine tumor GARD:19752 MONDO:equivalentTo Jejunal neuroendocrine tumor -MONDO:0864000 ileal neuroendocrine tumor GARD:19753 MONDO:equivalentTo Ileal neuroendocrine tumor -MONDO:0864001 neuroendocrine neoplasm of appendix GARD:19754 MONDO:equivalentTo Neuroendocrine neoplasm of appendix -MONDO:0864002 neuroendocrine tumor of the colon GARD:19755 MONDO:equivalentTo Neuroendocrine tumor of the colon -MONDO:0864003 neuroendocrine tumor of the rectum GARD:19756 MONDO:equivalentTo Neuroendocrine tumor of the rectum -MONDO:0864004 neuroendocrine tumor of anal canal GARD:19757 MONDO:equivalentTo Neuroendocrine tumor of anal canal -MONDO:0864005 laryngeal neuroendocrine tumor GARD:19758 MONDO:equivalentTo Laryngeal neuroendocrine tumor -MONDO:0864006 middle ear neuroendocrine tumor GARD:19759 MONDO:equivalentTo Middle ear neuroendocrine tumor -MONDO:0864007 primary hepatic neuroendocrine carcinoma GARD:19760 MONDO:equivalentTo Primary hepatic neuroendocrine carcinoma -MONDO:0864008 gallbladder neuroendocrine tumor GARD:19761 MONDO:equivalentTo Gallbladder neuroendocrine tumor -MONDO:0864009 thyroid tumor GARD:19762 MONDO:equivalentTo Thyroid tumor -MONDO:0864010 thyroid carcinoma GARD:19763 MONDO:equivalentTo Thyroid carcinoma -MONDO:0864011 rare parathyroid tumor GARD:19764 MONDO:equivalentTo Rare parathyroid tumor -MONDO:0864012 adrenal/paraganglial tumor GARD:19765 MONDO:equivalentTo Adrenal/paraganglial tumor -MONDO:0864013 multiple polyglandular tumor GARD:19766 MONDO:equivalentTo Multiple polyglandular tumor -MONDO:0864014 thymic tumor GARD:19767 MONDO:equivalentTo Thymic tumor -MONDO:0864015 neuroendocrine tumor with other location GARD:19768 MONDO:equivalentTo Neuroendocrine tumor with other location -MONDO:0864016 fraxf syndrome GARD:19769 MONDO:equivalentTo FRAXF syndrome -MONDO:0864017 autosomal dominant complex spastic paraplegia GARD:19770 MONDO:equivalentTo Autosomal dominant complex spastic paraplegia -MONDO:0864018 autosomal dominant pure spastic paraplegia GARD:19771 MONDO:equivalentTo Autosomal dominant pure spastic paraplegia -MONDO:0864019 autosomal recessive complex spastic paraplegia GARD:19772 MONDO:equivalentTo Autosomal recessive complex spastic paraplegia -MONDO:0864020 autosomal recessive pure spastic paraplegia GARD:19773 MONDO:equivalentTo Autosomal recessive pure spastic paraplegia -MONDO:0864021 cleft hard palate GARD:19774 MONDO:equivalentTo Cleft hard palate -MONDO:0864022 sub-cortical nodular heterotopia GARD:19775 MONDO:equivalentTo Sub-cortical nodular heterotopia -MONDO:0864023 congenital aortic valve dysplasia GARD:19776 MONDO:equivalentTo Congenital aortic valve dysplasia -MONDO:0864024 unilateral hemispheric polymicrogyria GARD:19777 MONDO:equivalentTo Unilateral hemispheric polymicrogyria -MONDO:0864025 aregenerative anemia GARD:19778 MONDO:equivalentTo Aregenerative anemia -MONDO:0864026 marin-amat syndrome GARD:19779 MONDO:equivalentTo Marin-Amat syndrome -MONDO:0864027 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome GARD:19780 MONDO:equivalentTo Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome -MONDO:0864028 african tick typhus GARD:19781 MONDO:equivalentTo African tick typhus -MONDO:0864029 rare genetic eye disease GARD:19782 MONDO:equivalentTo Rare genetic eye disease -MONDO:0864030 rare non-syndromic intellectual disability GARD:19783 MONDO:equivalentTo Rare non-syndromic intellectual disability -MONDO:0864031 anomaly of the mitral subvalvular apparatus GARD:19784 MONDO:equivalentTo Anomaly of the mitral subvalvular apparatus -MONDO:0864032 genetic cardiac rhythm disease GARD:19785 MONDO:equivalentTo Genetic cardiac rhythm disease -MONDO:0864033 rare gastroesophageal disease GARD:19786 MONDO:equivalentTo Rare gastroesophageal disease -MONDO:0864034 rare pancreatic disease GARD:19787 MONDO:equivalentTo Rare pancreatic disease -MONDO:0864035 rare vascular liver disease GARD:19788 MONDO:equivalentTo Rare vascular liver disease -MONDO:0864036 rare parenchymal liver disease GARD:19789 MONDO:equivalentTo Rare parenchymal liver disease -MONDO:0864037 rare metabolic liver disease GARD:19790 MONDO:equivalentTo Rare metabolic liver disease -MONDO:0864038 rare biliary tract disease GARD:19791 MONDO:equivalentTo Rare biliary tract disease -MONDO:0864039 rare hepatic and biliary tract tumor GARD:19792 MONDO:equivalentTo Rare hepatic and biliary tract tumor -MONDO:0864040 rare pulmonary disease GARD:19793 MONDO:equivalentTo Rare pulmonary disease -MONDO:0864041 rare bronchopulmonary tumor GARD:19794 MONDO:equivalentTo Rare bronchopulmonary tumor -MONDO:0864042 rare eye tumor GARD:19795 MONDO:equivalentTo Rare eye tumor -MONDO:0864043 rare diabetes mellitus GARD:19796 MONDO:equivalentTo Rare diabetes mellitus -MONDO:0864044 rare dyslipidemia GARD:19797 MONDO:equivalentTo Rare dyslipidemia -MONDO:0864045 rare adrenal disease GARD:19798 MONDO:equivalentTo Rare adrenal disease -MONDO:0864046 rare thyroid disease GARD:19799 MONDO:equivalentTo Rare thyroid disease -MONDO:0864047 proximal spinal muscular atrophy type 3 GARD:198 MONDO:equivalentTo Proximal spinal muscular atrophy type 3 -MONDO:0864048 polyendocrinopathy GARD:19800 MONDO:equivalentTo Polyendocrinopathy -MONDO:0864049 pituitary deficiency GARD:19801 MONDO:equivalentTo Pituitary deficiency -MONDO:0864050 primary adrenal insufficiency GARD:19802 MONDO:equivalentTo Primary adrenal insufficiency -MONDO:0864051 chronic primary adrenal insufficiency GARD:19803 MONDO:equivalentTo Chronic primary adrenal insufficiency -MONDO:0864052 genetic chronic primary adrenal insufficiency GARD:19804 MONDO:equivalentTo Genetic chronic primary adrenal insufficiency -MONDO:0864053 acquired chronic primary adrenal insufficiency GARD:19805 MONDO:equivalentTo Acquired chronic primary adrenal insufficiency -MONDO:0864054 combined t and b cell immunodeficiency GARD:19806 MONDO:equivalentTo Combined T and B cell immunodeficiency -MONDO:0864055 immunodeficiency predominantly affecting antibody production GARD:19807 MONDO:equivalentTo Immunodeficiency predominantly affecting antibody production -MONDO:0864056 quantitative and/or qualitative congenital phagocyte defect GARD:19808 MONDO:equivalentTo Quantitative and/or qualitative congenital phagocyte defect -MONDO:0864057 constitutional neutropenia GARD:19809 MONDO:equivalentTo Constitutional neutropenia -MONDO:0864058 primary immunodeficiency due to a defect in innate immunity GARD:19810 MONDO:equivalentTo Primary immunodeficiency due to a defect in innate immunity -MONDO:0864059 immunodeficiency due to a complement cascade protein anomaly GARD:19811 MONDO:equivalentTo Immunodeficiency due to a complement cascade protein anomaly -MONDO:0864060 periodic fever syndrome GARD:19812 MONDO:equivalentTo Periodic fever syndrome -MONDO:0864061 primary immunodeficiency GARD:19813 MONDO:equivalentTo Primary immunodeficiency -MONDO:0864062 rare epilepsy GARD:19814 MONDO:equivalentTo Rare epilepsy -MONDO:0864063 medullar disease GARD:19815 MONDO:equivalentTo Medullar disease -MONDO:0864064 rare ataxia GARD:19816 MONDO:equivalentTo Rare ataxia -MONDO:0864065 rare movement disorder GARD:19817 MONDO:equivalentTo Rare movement disorder -MONDO:0864066 brain inflammatory disease GARD:19818 MONDO:equivalentTo Brain inflammatory disease -MONDO:0864067 neurovascular malformation GARD:19819 MONDO:equivalentTo Neurovascular malformation -MONDO:0864068 other syndrome with lissencephaly as a major feature GARD:19820 MONDO:equivalentTo Other syndrome with lissencephaly as a major feature -MONDO:0864069 lissencephaly type 3 GARD:19821 MONDO:equivalentTo Lissencephaly type 3 -MONDO:0864070 pure hereditary spastic paraplegia GARD:19822 MONDO:equivalentTo Pure hereditary spastic paraplegia -MONDO:0864071 complex hereditary spastic paraplegia GARD:19823 MONDO:equivalentTo Complex hereditary spastic paraplegia -MONDO:0864072 autosomal dominant limb-girdle muscular dystrophy GARD:19824 MONDO:equivalentTo Autosomal dominant limb-girdle muscular dystrophy -MONDO:0864073 autosomal recessive limb-girdle muscular dystrophy GARD:19825 MONDO:equivalentTo Autosomal recessive limb-girdle muscular dystrophy -MONDO:0864074 autosomal monosomy GARD:19826 MONDO:equivalentTo Autosomal monosomy -MONDO:0864075 rickettsial disease GARD:19827 MONDO:equivalentTo Rickettsial disease -MONDO:0864076 spotted fever rickettsiosis GARD:19828 MONDO:equivalentTo Spotted fever rickettsiosis -MONDO:0864077 typhus-group rickettsiosis GARD:19829 MONDO:equivalentTo Typhus-group rickettsiosis -MONDO:0864078 human herpesvirus 8-related disorder GARD:19830 MONDO:equivalentTo Human herpesvirus 8-related disorder -MONDO:0864079 unexplained periodic fever syndrome GARD:19831 MONDO:equivalentTo Unexplained periodic fever syndrome -MONDO:0864080 multiple congenital anomalies/dysmorphic syndrome-intellectual disability GARD:19832 MONDO:equivalentTo Multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0864081 multiple congenital anomalies/dysmorphic syndrome without intellectual disability GARD:19833 MONDO:equivalentTo Multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0864082 rare syndromic intellectual disability GARD:19834 MONDO:equivalentTo Rare syndromic intellectual disability -MONDO:0864083 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent GARD:19835 MONDO:equivalentTo Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent -MONDO:0864084 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor GARD:19836 MONDO:equivalentTo Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor -MONDO:0864085 acute myeloid leukemia with t(8;21)(q22;q22) translocation GARD:19837 MONDO:equivalentTo Acute myeloid leukemia with t(8;21)(q22;q22) translocation -MONDO:0864086 chronic diarrhea due to glucoamylase deficiency GARD:19838 MONDO:equivalentTo Chronic diarrhea due to glucoamylase deficiency -MONDO:0864087 congenital enterocyte heparan sulfate deficiency GARD:19839 MONDO:equivalentTo Congenital enterocyte heparan sulfate deficiency -MONDO:0864088 undetermined colitis GARD:19840 MONDO:equivalentTo Undetermined colitis -MONDO:0864089 congenital intestinal transport defect GARD:19841 MONDO:equivalentTo Congenital intestinal transport defect -MONDO:0864090 intestinal disease due to vitamin absorption anomaly GARD:19842 MONDO:equivalentTo Intestinal disease due to vitamin absorption anomaly -MONDO:0864091 intestinal disease due to fat malabsorption GARD:19843 MONDO:equivalentTo Intestinal disease due to fat malabsorption -MONDO:0864092 congenital intestinal disease due to an enzymatic defect GARD:19844 MONDO:equivalentTo Congenital intestinal disease due to an enzymatic defect -MONDO:0864093 congenital enteropathy involving intestinal mucosa development GARD:19845 MONDO:equivalentTo Congenital enteropathy involving intestinal mucosa development -MONDO:0864094 rare disease involving intestinal motility GARD:19846 MONDO:equivalentTo Rare disease involving intestinal motility -MONDO:0864095 intestinal polyposis syndrome GARD:19847 MONDO:equivalentTo Intestinal polyposis syndrome -MONDO:0864096 rare tumor of intestine GARD:19848 MONDO:equivalentTo Rare tumor of intestine -MONDO:0864097 rare inflammatory bowel disease GARD:19849 MONDO:equivalentTo Rare inflammatory bowel disease -MONDO:0864098 metabolic disease with intestinal involvement GARD:19850 MONDO:equivalentTo Metabolic disease with intestinal involvement -MONDO:0864099 adenocarcinoma of the small intestine GARD:19851 MONDO:equivalentTo Adenocarcinoma of the small intestine -MONDO:0864100 leiomyosarcoma of small intestine GARD:19852 MONDO:equivalentTo Leiomyosarcoma of small intestine -MONDO:0864101 myopathic intestinal pseudoobstruction GARD:19853 MONDO:equivalentTo Myopathic intestinal pseudoobstruction -MONDO:0864102 unclassified intestinal pseudoobstruction GARD:19854 MONDO:equivalentTo Unclassified intestinal pseudoobstruction -MONDO:0864103 non-syndromic esophageal malformation GARD:19855 MONDO:equivalentTo Non-syndromic esophageal malformation -MONDO:0864104 syndromic esophageal malformation GARD:19856 MONDO:equivalentTo Syndromic esophageal malformation -MONDO:0864105 non-syndromic gastroduodenal malformation GARD:19857 MONDO:equivalentTo Non-syndromic gastroduodenal malformation -MONDO:0864106 syndromic gastroduodenal malformation GARD:19858 MONDO:equivalentTo Syndromic gastroduodenal malformation -MONDO:0864107 non-syndromic intestinal malformation GARD:19859 MONDO:equivalentTo Non-syndromic intestinal malformation -MONDO:0864108 syndromic intestinal malformation GARD:19860 MONDO:equivalentTo Syndromic intestinal malformation -MONDO:0864109 non-syndromic visceral malformation GARD:19861 MONDO:equivalentTo Non-syndromic visceral malformation -MONDO:0864110 syndromic visceral malformation GARD:19862 MONDO:equivalentTo Syndromic visceral malformation -MONDO:0864111 non-syndromic diaphragmatic or abdominal wall malformation GARD:19863 MONDO:equivalentTo Non-syndromic diaphragmatic or abdominal wall malformation -MONDO:0864112 syndromic diaphragmatic or abdominal wall malformation GARD:19864 MONDO:equivalentTo Syndromic diaphragmatic or abdominal wall malformation -MONDO:0864113 non-syndromic central nervous system malformation GARD:19865 MONDO:equivalentTo Non-syndromic central nervous system malformation -MONDO:0864114 syndrome with a central nervous system malformation as a major feature GARD:19866 MONDO:equivalentTo Syndrome with a central nervous system malformation as a major feature -MONDO:0864115 non-syndromic respiratory or mediastinal malformation GARD:19867 MONDO:equivalentTo Non-syndromic respiratory or mediastinal malformation -MONDO:0864116 syndromic respiratory or mediastinal malformation GARD:19868 MONDO:equivalentTo Syndromic respiratory or mediastinal malformation -MONDO:0864117 rare anemia GARD:19869 MONDO:equivalentTo Rare anemia -MONDO:0864118 arthrogryposis syndrome GARD:19870 MONDO:equivalentTo Arthrogryposis syndrome -MONDO:0864119 syndrome with limb malformations as a major feature GARD:19871 MONDO:equivalentTo Syndrome with limb malformations as a major feature -MONDO:0864120 non-syndromic limb malformation GARD:19872 MONDO:equivalentTo Non-syndromic limb malformation -MONDO:0864121 rare intestinal disease GARD:19873 MONDO:equivalentTo Rare intestinal disease -MONDO:0864122 syndromic anorectal malformation GARD:19874 MONDO:equivalentTo Syndromic anorectal malformation -MONDO:0864123 neonatal hypoxic and ischemic brain injury GARD:19875 MONDO:equivalentTo Neonatal hypoxic and ischemic brain injury -MONDO:0864124 vulvar intraepithelial neoplasia GARD:19876 MONDO:equivalentTo Vulvar intraepithelial neoplasia -MONDO:0864125 infectious epithelial keratitis GARD:19877 MONDO:equivalentTo Infectious epithelial keratitis -MONDO:0864126 neurotrophic keratopathy GARD:19878 MONDO:equivalentTo Neurotrophic keratopathy -MONDO:0864127 herpes simplex virus stromal keratitis GARD:19879 MONDO:equivalentTo Herpes simplex virus stromal keratitis -MONDO:0864128 corneal endotheliitis GARD:19880 MONDO:equivalentTo Corneal endotheliitis -MONDO:0864129 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome GARD:19881 MONDO:equivalentTo Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome -MONDO:0864130 intractable diarrhea-choanal atresia-eye anomalies syndrome GARD:19882 MONDO:equivalentTo Intractable diarrhea-choanal atresia-eye anomalies syndrome -MONDO:0864131 cardiac anomalies-heterotaxy syndrome GARD:19883 MONDO:equivalentTo Cardiac anomalies-heterotaxy syndrome -MONDO:0864132 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk GARD:19884 MONDO:equivalentTo Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk -MONDO:0864133 macular amyloidosis GARD:19885 MONDO:equivalentTo Macular amyloidosis -MONDO:0864134 extrapelvic endometriosis GARD:19886 MONDO:equivalentTo Extrapelvic endometriosis -MONDO:0864135 madras motor neuron disease GARD:19887 MONDO:equivalentTo Madras motor neuron disease -MONDO:0864136 syndromic optic nerve hypoplasia GARD:19888 MONDO:equivalentTo Syndromic optic nerve hypoplasia -MONDO:0864137 choanal atresia, unilateral GARD:19889 MONDO:equivalentTo Choanal atresia, unilateral -MONDO:0864138 choanal atresia, bilateral GARD:19890 MONDO:equivalentTo Choanal atresia, bilateral -MONDO:0864139 primary laryngeal lymphangioma GARD:19891 MONDO:equivalentTo Primary laryngeal lymphangioma -MONDO:0864140 neonatal brainstem dysfunction GARD:19892 MONDO:equivalentTo Neonatal brainstem dysfunction -MONDO:0864141 laryngotracheal angioma GARD:19893 MONDO:equivalentTo Laryngotracheal angioma -MONDO:0864142 pierre robin syndrome associated with collagen disease GARD:19894 MONDO:equivalentTo Pierre Robin syndrome associated with collagen disease -MONDO:0864143 rare disease with pierre robin syndrome GARD:19895 MONDO:equivalentTo Rare disease with Pierre Robin syndrome -MONDO:0864144 pierre robin syndrome associated with a chromosomal anomaly GARD:19896 MONDO:equivalentTo Pierre Robin syndrome associated with a chromosomal anomaly -MONDO:0864145 pierre robin syndrome associated with branchial archs anomalies GARD:19897 MONDO:equivalentTo Pierre Robin syndrome associated with branchial archs anomalies -MONDO:0864146 pierre robin syndrome associated with bone disease GARD:19898 MONDO:equivalentTo Pierre Robin syndrome associated with bone disease -MONDO:0864147 teratogenic pierre robin syndrome GARD:19899 MONDO:equivalentTo Teratogenic Pierre Robin syndrome -MONDO:0864148 developmental anomaly of metabolic origin GARD:19900 MONDO:equivalentTo Developmental anomaly of metabolic origin -MONDO:0864149 rare bone development disorder GARD:19901 MONDO:equivalentTo Rare bone development disorder -MONDO:0864150 malformation syndrome with short stature GARD:19902 MONDO:equivalentTo Malformation syndrome with short stature -MONDO:0864151 overgrowth/obesity syndrome GARD:19903 MONDO:equivalentTo Overgrowth/obesity syndrome -MONDO:0864152 rare developmental defect with skin/mucosae involvement GARD:19904 MONDO:equivalentTo Rare developmental defect with skin/mucosae involvement -MONDO:0864153 rare developmental defect with connective tissue involvement GARD:19905 MONDO:equivalentTo Rare developmental defect with connective tissue involvement -MONDO:0864154 progeroid syndrome GARD:19906 MONDO:equivalentTo Progeroid syndrome -MONDO:0864155 branchial arch or oral-acral syndrome GARD:19907 MONDO:equivalentTo Branchial arch or oral-acral syndrome -MONDO:0864156 orofacial clefting syndrome GARD:19908 MONDO:equivalentTo Orofacial clefting syndrome -MONDO:0864157 malformation syndrome with odontal and/or periodontal component GARD:19909 MONDO:equivalentTo Malformation syndrome with odontal and/or periodontal component -MONDO:0864158 non-syndromic craniosynostosis GARD:19910 MONDO:equivalentTo Non-syndromic craniosynostosis -MONDO:0864159 syndromic craniosynostosis GARD:19911 MONDO:equivalentTo Syndromic craniosynostosis -MONDO:0864160 congenital panfollicular nevus GARD:19912 MONDO:equivalentTo Congenital panfollicular nevus -MONDO:0864161 acute transverse myelitis GARD:19913 MONDO:equivalentTo Acute transverse myelitis -MONDO:0864162 idiopathic acute transverse myelitis GARD:19914 MONDO:equivalentTo Idiopathic acute transverse myelitis -MONDO:0864163 perioral myoclonia with absences GARD:19915 MONDO:equivalentTo Perioral myoclonia with absences -MONDO:0864164 jeavons syndrome GARD:19916 MONDO:equivalentTo Jeavons syndrome -MONDO:0864165 leukoencephalopathy with bilateral anterior temporal lobe cysts GARD:19917 MONDO:equivalentTo Leukoencephalopathy with bilateral anterior temporal lobe cysts -MONDO:0864166 progressive cavitating leukoencephalopathy GARD:19918 MONDO:equivalentTo Progressive cavitating leukoencephalopathy -MONDO:0864167 neuropathy with hearing impairment GARD:19919 MONDO:equivalentTo Neuropathy with hearing impairment -MONDO:0864168 hereditary sensory and autonomic neuropathy with deafness and global delay GARD:19920 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy with deafness and global delay -MONDO:0864169 inherited cancer-predisposing syndrome GARD:19921 MONDO:equivalentTo Inherited cancer-predisposing syndrome -MONDO:0864170 secondary hypoparathyroidism due to impaired parathormon secretion GARD:19922 MONDO:equivalentTo Secondary hypoparathyroidism due to impaired parathormon secretion -MONDO:0864171 autosomal dominant hereditary demyelinating motor and sensory neuropathy GARD:19923 MONDO:equivalentTo Autosomal dominant hereditary demyelinating motor and sensory neuropathy -MONDO:0864172 autosomal dominant hereditary axonal motor and sensory neuropathy GARD:19924 MONDO:equivalentTo Autosomal dominant hereditary axonal motor and sensory neuropathy -MONDO:0864173 autosomal recessive hereditary demyelinating motor and sensory neuropathy GARD:19925 MONDO:equivalentTo Autosomal recessive hereditary demyelinating motor and sensory neuropathy -MONDO:0864174 autosomal dominant distal hereditary motor neuropathy GARD:19926 MONDO:equivalentTo Autosomal dominant distal hereditary motor neuropathy -MONDO:0864175 autosomal recessive distal hereditary motor neuropathy GARD:19927 MONDO:equivalentTo Autosomal recessive distal hereditary motor neuropathy -MONDO:0864176 autosomal dominant hereditary sensory and autonomic neuropathy GARD:19928 MONDO:equivalentTo Autosomal dominant hereditary sensory and autonomic neuropathy -MONDO:0864177 autosomal recessive hereditary sensory and autonomic neuropathy GARD:19929 MONDO:equivalentTo Autosomal recessive hereditary sensory and autonomic neuropathy -MONDO:0864178 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome GARD:1993 MONDO:equivalentTo Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome -MONDO:0864179 neuro-ophthalmological disease GARD:19930 MONDO:equivalentTo Neuro-ophthalmological disease -MONDO:0864180 joubert syndrome and related disorders GARD:19931 MONDO:equivalentTo Joubert syndrome and related disorders -MONDO:0864181 linear atrophoderma of moulin GARD:19932 MONDO:equivalentTo Linear atrophoderma of Moulin -MONDO:0864182 low-flow priapism GARD:19933 MONDO:equivalentTo Low-flow priapism -MONDO:0864183 first branchial cleft anomaly GARD:19934 MONDO:equivalentTo First branchial cleft anomaly -MONDO:0864184 third branchial cleft anomaly GARD:19935 MONDO:equivalentTo Third branchial cleft anomaly -MONDO:0864185 fourth branchial cleft anomaly GARD:19936 MONDO:equivalentTo Fourth branchial cleft anomaly -MONDO:0864186 cervical dermoid cyst GARD:19937 MONDO:equivalentTo Cervical dermoid cyst -MONDO:0864187 facial dermoid cyst GARD:19938 MONDO:equivalentTo Facial dermoid cyst -MONDO:0864188 commissural lip fistula GARD:19939 MONDO:equivalentTo Commissural lip fistula -MONDO:0864189 dyschondrosteosis-nephritis syndrome GARD:1994 MONDO:equivalentTo Dyschondrosteosis-nephritis syndrome -MONDO:0864190 lower lip fistula GARD:19940 MONDO:equivalentTo Lower lip fistula -MONDO:0864191 cervicofacial fibrochondroma GARD:19941 MONDO:equivalentTo Cervicofacial fibrochondroma -MONDO:0864192 digestive duplication cyst of the tongue GARD:19942 MONDO:equivalentTo Digestive duplication cyst of the tongue -MONDO:0864193 epignathus GARD:19943 MONDO:equivalentTo Epignathus -MONDO:0864194 nasolacrimal duct cyst GARD:19944 MONDO:equivalentTo Nasolacrimal duct cyst -MONDO:0864195 polyrrhinia GARD:19945 MONDO:equivalentTo Polyrrhinia -MONDO:0864196 supernumerary nostril GARD:19946 MONDO:equivalentTo Supernumerary nostril -MONDO:0864197 proboscis lateralis GARD:19947 MONDO:equivalentTo Proboscis lateralis -MONDO:0864198 nasopharyngeal teratoma GARD:19948 MONDO:equivalentTo Nasopharyngeal teratoma -MONDO:0864199 nasal glial heterotopia GARD:19949 MONDO:equivalentTo Nasal glial heterotopia -MONDO:0864200 nasal ganglioglioma GARD:19950 MONDO:equivalentTo Nasal ganglioglioma -MONDO:0864201 nasal encephalocele GARD:19951 MONDO:equivalentTo Nasal encephalocele -MONDO:0864202 congenital subglottic stenosis GARD:19952 MONDO:equivalentTo Congenital subglottic stenosis -MONDO:0864203 congenital laryngeal cyst GARD:19953 MONDO:equivalentTo Congenital laryngeal cyst -MONDO:0864204 glossopalatine ankylosis GARD:19954 MONDO:equivalentTo Glossopalatine ankylosis -MONDO:0864205 frontonasal arteriovenous malformation GARD:19955 MONDO:equivalentTo Frontonasal arteriovenous malformation -MONDO:0864206 maxillary arteriovenous malformation GARD:19956 MONDO:equivalentTo Maxillary arteriovenous malformation -MONDO:0864207 mandibular arteriovenous malformation GARD:19957 MONDO:equivalentTo Mandibular arteriovenous malformation -MONDO:0864208 rapidly involuting congenital hemangioma GARD:19958 MONDO:equivalentTo Rapidly involuting congenital hemangioma -MONDO:0864209 cerebrofacial arteriovenous metameric syndrome type 1 GARD:19959 MONDO:equivalentTo Cerebrofacial arteriovenous metameric syndrome type 1 -MONDO:0864210 dyschromatosis universalis hereditaria GARD:1996 MONDO:equivalentTo Dyschromatosis universalis hereditaria -MONDO:0864211 cerebrofacial arteriovenous metameric syndrome type 3 GARD:19960 MONDO:equivalentTo Cerebrofacial arteriovenous metameric syndrome type 3 -MONDO:0864212 diffuse lymphatic malformation GARD:19961 MONDO:equivalentTo Diffuse lymphatic malformation -MONDO:0864213 isolated congenital syngnathia GARD:19962 MONDO:equivalentTo Isolated congenital syngnathia -MONDO:0864214 nasal dorsum fistula GARD:19963 MONDO:equivalentTo Nasal dorsum fistula -MONDO:0864215 facial cleft GARD:19964 MONDO:equivalentTo Facial cleft -MONDO:0864216 median facial cleft GARD:19965 MONDO:equivalentTo Median facial cleft -MONDO:0864217 median cleft of the upper lip and maxilla GARD:19966 MONDO:equivalentTo Median cleft of the upper lip and maxilla -MONDO:0864218 oblique facial cleft GARD:19967 MONDO:equivalentTo Oblique facial cleft -MONDO:0864219 tessier number 5 facial cleft GARD:19968 MONDO:equivalentTo Tessier number 5 facial cleft -MONDO:0864220 tessier number 6 facial cleft GARD:19969 MONDO:equivalentTo Tessier number 6 facial cleft -MONDO:0864221 lateral facial cleft GARD:19970 MONDO:equivalentTo Lateral facial cleft -MONDO:0864222 midline cervical cleft GARD:19971 MONDO:equivalentTo Midline cervical cleft -MONDO:0864223 rare head and neck malformation GARD:19972 MONDO:equivalentTo Rare head and neck malformation -MONDO:0864224 cysts and fistulae of the face and oral cavity GARD:19973 MONDO:equivalentTo Cysts and fistulae of the face and oral cavity -MONDO:0864225 pinnae fistula or cyst GARD:19974 MONDO:equivalentTo Pinnae fistula or cyst -MONDO:0864226 paramedian facial cleft GARD:19975 MONDO:equivalentTo Paramedian facial cleft -MONDO:0864227 submucosal cleft palate GARD:19976 MONDO:equivalentTo Submucosal cleft palate -MONDO:0864228 coloboma of superior eyelid GARD:19977 MONDO:equivalentTo Coloboma of superior eyelid -MONDO:0864229 coloboma of inferior eyelid GARD:19978 MONDO:equivalentTo Coloboma of inferior eyelid -MONDO:0864230 otomandibular dysplasia GARD:19979 MONDO:equivalentTo Otomandibular dysplasia -MONDO:0864231 dysequilibrium syndrome GARD:1998 MONDO:equivalentTo Dysequilibrium syndrome -MONDO:0864232 mandibulofacial dysostosis GARD:19980 MONDO:equivalentTo Mandibulofacial dysostosis -MONDO:0864233 predominantly large-vessel vasculitis GARD:19981 MONDO:equivalentTo Predominantly large-vessel vasculitis -MONDO:0864234 predominantly medium-vessel vasculitis GARD:19982 MONDO:equivalentTo Predominantly medium-vessel vasculitis -MONDO:0864235 predominantly small-vessel vasculitis GARD:19983 MONDO:equivalentTo Predominantly small-vessel vasculitis -MONDO:0864236 immune complex mediated vasculitis GARD:19984 MONDO:equivalentTo Immune complex mediated vasculitis -MONDO:0864237 isolated dystonia GARD:19985 MONDO:equivalentTo Isolated dystonia -MONDO:0864238 renal ciliopathy GARD:19986 MONDO:equivalentTo Renal ciliopathy -MONDO:0864239 retinal ciliopathy GARD:19987 MONDO:equivalentTo Retinal ciliopathy -MONDO:0864240 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene GARD:19988 MONDO:equivalentTo Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene -MONDO:0864241 retinal ciliopathy due to mutation in the rpgr gene GARD:19989 MONDO:equivalentTo Retinal ciliopathy due to mutation in the RPGR gene -MONDO:0864242 congenital dyserythropoietic anemia GARD:1999 MONDO:equivalentTo Congenital dyserythropoietic anemia -MONDO:0864243 retinal ciliopathy due to mutation in the rpgrip gene GARD:19990 MONDO:equivalentTo Retinal ciliopathy due to mutation in the RPGRIP gene -MONDO:0864244 retinal ciliopathy due to mutation in usher gene GARD:19991 MONDO:equivalentTo Retinal ciliopathy due to mutation in Usher gene -MONDO:0864245 retinal ciliopathy due to mutation in nephronophthisis gene GARD:19992 MONDO:equivalentTo Retinal ciliopathy due to mutation in nephronophthisis gene -MONDO:0864246 retinal ciliopathy due to mutation in bardet-biedl gene GARD:19993 MONDO:equivalentTo Retinal ciliopathy due to mutation in Bardet-Biedl gene -MONDO:0864247 otomandibular dysplasia associated with monogenic syndromes GARD:19994 MONDO:equivalentTo Otomandibular dysplasia associated with monogenic syndromes -MONDO:0864248 hypoglossia/aglossia GARD:19995 MONDO:equivalentTo Hypoglossia/aglossia -MONDO:0864249 oromandibular-limb anomalies syndrome GARD:19996 MONDO:equivalentTo Oromandibular-limb anomalies syndrome -MONDO:0864250 paralytic facial malformation GARD:19997 MONDO:equivalentTo Paralytic facial malformation -MONDO:0864251 syndrome or malformation associated with head and neck malformations GARD:19998 MONDO:equivalentTo Syndrome or malformation associated with head and neck malformations -MONDO:0864252 pinnae and external auditory canal anomaly GARD:19999 MONDO:equivalentTo Pinnae and external auditory canal anomaly -MONDO:0864253 central serous chorioretinopathy GARD:200 MONDO:equivalentTo Central serous chorioretinopathy -MONDO:0864254 congenital dyserythropoietic anemia type i GARD:2000 MONDO:equivalentTo Congenital dyserythropoietic anemia type I -MONDO:0864255 nose and cavum anomaly GARD:20000 MONDO:equivalentTo Nose and cavum anomaly -MONDO:0864256 larynx anomaly GARD:20001 MONDO:equivalentTo Larynx anomaly -MONDO:0864257 tracheal anomaly GARD:20002 MONDO:equivalentTo Tracheal anomaly -MONDO:0864258 rare syndrome with cardiac malformations GARD:20003 MONDO:equivalentTo Rare syndrome with cardiac malformations -MONDO:0864259 rare genetic hepatic disease GARD:20004 MONDO:equivalentTo Rare genetic hepatic disease -MONDO:0864260 genetic parenchymatous liver disease GARD:20005 MONDO:equivalentTo Genetic parenchymatous liver disease -MONDO:0864261 genetic biliary tract disease GARD:20006 MONDO:equivalentTo Genetic biliary tract disease -MONDO:0864262 rare genetic respiratory disease GARD:20007 MONDO:equivalentTo Rare genetic respiratory disease -MONDO:0864263 rare genetic urogenital disease GARD:20008 MONDO:equivalentTo Rare genetic urogenital disease -MONDO:0864264 genetic urogenital tract malformation GARD:20009 MONDO:equivalentTo Genetic urogenital tract malformation -MONDO:0864265 congenital dyserythropoietic anemia type ii GARD:2001 MONDO:equivalentTo Congenital dyserythropoietic anemia type II -MONDO:0864266 rare genetic cause of hypertension GARD:20010 MONDO:equivalentTo Rare genetic cause of hypertension -MONDO:0864267 rare genetic endocrine disease GARD:20011 MONDO:equivalentTo Rare genetic endocrine disease -MONDO:0864268 genetic endocrine growth disease GARD:20012 MONDO:equivalentTo Genetic endocrine growth disease -MONDO:0864269 situs ambiguus GARD:20013 MONDO:equivalentTo Situs ambiguus -MONDO:0864270 epithelioid hemangioendothelioma GARD:20014 MONDO:equivalentTo Epithelioid hemangioendothelioma -MONDO:0864271 congenital pseudoarthrosis of the limbs GARD:20015 MONDO:equivalentTo Congenital pseudoarthrosis of the limbs -MONDO:0864272 congenital epulis GARD:20016 MONDO:equivalentTo Congenital epulis -MONDO:0864273 trigeminal autonomic cephalalgia GARD:20017 MONDO:equivalentTo Trigeminal autonomic cephalalgia -MONDO:0864274 generalized eruptive histiocytosis GARD:20018 MONDO:equivalentTo Generalized eruptive histiocytosis -MONDO:0864275 benign cephalic histiocytosis GARD:20019 MONDO:equivalentTo Benign cephalic histiocytosis -MONDO:0864276 congenital dyserythropoietic anemia type iii GARD:2002 MONDO:equivalentTo Congenital dyserythropoietic anemia type III -MONDO:0864277 juvenile xanthogranuloma GARD:20020 MONDO:equivalentTo Juvenile xanthogranuloma -MONDO:0864278 papular xanthoma GARD:20021 MONDO:equivalentTo Papular xanthoma -MONDO:0864279 indeterminate cell histiocytosis GARD:20022 MONDO:equivalentTo Indeterminate cell histiocytosis -MONDO:0864280 progressive nodular histiocytosis GARD:20023 MONDO:equivalentTo Progressive nodular histiocytosis -MONDO:0864281 hemophagocytic syndrome GARD:20024 MONDO:equivalentTo Hemophagocytic syndrome -MONDO:0864282 primary hemophagocytic lymphohistiocytosis GARD:20025 MONDO:equivalentTo Primary hemophagocytic lymphohistiocytosis -MONDO:0864283 secondary hemophagocytic lymphohistiocytosis GARD:20026 MONDO:equivalentTo Secondary hemophagocytic lymphohistiocytosis -MONDO:0864284 acquired hemophagocytic lymphohistiocytosis associated with malignant disease GARD:20027 MONDO:equivalentTo Acquired hemophagocytic lymphohistiocytosis associated with malignant disease -MONDO:0864285 genetic dementia GARD:20028 MONDO:equivalentTo Genetic dementia -MONDO:0864286 huntington disease-like syndrome GARD:20029 MONDO:equivalentTo Huntington disease-like syndrome -MONDO:0864287 qualitative or quantitative defects of dysferlin GARD:2003 MONDO:equivalentTo Qualitative or quantitative defects of dysferlin -MONDO:0864288 rare genetic hematologic disease GARD:20030 MONDO:equivalentTo Rare genetic hematologic disease -MONDO:0864289 localized dystrophic epidermolysis bullosa, acral form GARD:20031 MONDO:equivalentTo Localized dystrophic epidermolysis bullosa, acral form -MONDO:0864290 localized dystrophic epidermolysis bullosa, nails only GARD:20032 MONDO:equivalentTo Localized dystrophic epidermolysis bullosa, nails only -MONDO:0864291 typical urticaria pigmentosa GARD:20033 MONDO:equivalentTo Typical urticaria pigmentosa -MONDO:0864292 plaque-form urticaria pigmentosa GARD:20034 MONDO:equivalentTo Plaque-form urticaria pigmentosa -MONDO:0864293 nodular urticaria pigmentosa GARD:20035 MONDO:equivalentTo Nodular urticaria pigmentosa -MONDO:0864294 smoldering systemic mastocytosis GARD:20036 MONDO:equivalentTo Smoldering systemic mastocytosis -MONDO:0864295 isolated bone marrow mastocytosis GARD:20037 MONDO:equivalentTo Isolated bone marrow mastocytosis -MONDO:0864296 cap polyposis GARD:20038 MONDO:equivalentTo Cap polyposis -MONDO:0864297 isolated congenital nasal pyriform aperture stenosis GARD:20039 MONDO:equivalentTo Isolated congenital nasal pyriform aperture stenosis -MONDO:0864298 familial dysfibrinogenemia GARD:2004 MONDO:equivalentTo Familial dysfibrinogenemia -MONDO:0864299 isolated congenital auditory ossicle malformation GARD:20040 MONDO:equivalentTo Isolated congenital auditory ossicle malformation -MONDO:0864300 non-syndromic cerebral malformation due to abnormal neuronal migration GARD:20041 MONDO:equivalentTo Non-syndromic cerebral malformation due to abnormal neuronal migration -MONDO:0864301 subacute cutaneous lupus erythematosus GARD:20042 MONDO:equivalentTo Subacute cutaneous lupus erythematosus -MONDO:0864302 chronic cutaneous lupus erythematosus GARD:20043 MONDO:equivalentTo Chronic cutaneous lupus erythematosus -MONDO:0864303 rare bacterial infectious disease GARD:20044 MONDO:equivalentTo Rare bacterial infectious disease -MONDO:0864304 rare viral disease GARD:20045 MONDO:equivalentTo Rare viral disease -MONDO:0864305 rare parasitic disease GARD:20046 MONDO:equivalentTo Rare parasitic disease -MONDO:0864306 rare mycosis GARD:20047 MONDO:equivalentTo Rare mycosis -MONDO:0864307 bile acid synthesis defect with cholestasis and malabsorption GARD:20048 MONDO:equivalentTo Bile acid synthesis defect with cholestasis and malabsorption -MONDO:0864308 rare disorder related with pregnancy, childbirth and puerperium GARD:20049 MONDO:equivalentTo Rare disorder related with pregnancy, childbirth and puerperium -MONDO:0864309 extragonadal germinoma GARD:2005 MONDO:equivalentTo Extragonadal germinoma -MONDO:0864310 cryptogenic late-onset epileptic spasms GARD:20050 MONDO:equivalentTo Cryptogenic late-onset epileptic spasms -MONDO:0864311 posttransplant acute limbic encephalitis GARD:20051 MONDO:equivalentTo Posttransplant acute limbic encephalitis -MONDO:0864312 acrodermatitis continua of hallopeau GARD:20052 MONDO:equivalentTo Acrodermatitis continua of Hallopeau -MONDO:0864313 atopic keratoconjunctivitis GARD:20053 MONDO:equivalentTo Atopic keratoconjunctivitis -MONDO:0864314 x-linked intellectual disability, cilliers type GARD:20054 MONDO:equivalentTo X-linked intellectual disability, Cilliers type -MONDO:0864315 rare odontal or periodontal disorder GARD:20055 MONDO:equivalentTo Rare odontal or periodontal disorder -MONDO:0864316 middle ear anomaly GARD:20056 MONDO:equivalentTo Middle ear anomaly -MONDO:0864317 acute myeloid leukemia and myelodysplastic syndromes related to radiation GARD:20057 MONDO:equivalentTo Acute myeloid leukemia and myelodysplastic syndromes related to radiation -MONDO:0864318 rare acquired aplastic anemia GARD:20058 MONDO:equivalentTo Rare acquired aplastic anemia -MONDO:0864319 rare genetic gastroenterological disease GARD:20059 MONDO:equivalentTo Rare genetic gastroenterological disease -MONDO:0864320 genetic intestinal disease GARD:20060 MONDO:equivalentTo Genetic intestinal disease -MONDO:0864321 genetic gastro-esophageal disease GARD:20061 MONDO:equivalentTo Genetic gastro-esophageal disease -MONDO:0864322 genetic pancreatic disease GARD:20062 MONDO:equivalentTo Genetic pancreatic disease -MONDO:0864323 non-syndromic urogenital tract malformation GARD:20063 MONDO:equivalentTo Non-syndromic urogenital tract malformation -MONDO:0864324 syndromic urogenital tract malformation GARD:20064 MONDO:equivalentTo Syndromic urogenital tract malformation -MONDO:0864325 wound myiasis GARD:20065 MONDO:equivalentTo Wound myiasis -MONDO:0864326 cavitary myiasis GARD:20066 MONDO:equivalentTo Cavitary myiasis -MONDO:0864327 diazoxide-sensitive diffuse hyperinsulinism GARD:20067 MONDO:equivalentTo Diazoxide-sensitive diffuse hyperinsulinism -MONDO:0864328 diazoxide-resistant diffuse hyperinsulinism GARD:20068 MONDO:equivalentTo Diazoxide-resistant diffuse hyperinsulinism -MONDO:0864329 bazex syndrome GARD:20069 MONDO:equivalentTo Bazex syndrome -MONDO:0864330 porokeratotic eccrine ostial and dermal duct nevus GARD:20070 MONDO:equivalentTo Porokeratotic eccrine ostial and dermal duct nevus -MONDO:0864331 benign non-familial infantile seizures GARD:20071 MONDO:equivalentTo Benign non-familial infantile seizures -MONDO:0864332 benign partial epilepsy of infancy with complex partial seizures GARD:20072 MONDO:equivalentTo Benign partial epilepsy of infancy with complex partial seizures -MONDO:0864333 benign partial epilepsy with secondarily generalized seizures in infancy GARD:20073 MONDO:equivalentTo Benign partial epilepsy with secondarily generalized seizures in infancy -MONDO:0864334 benign infantile seizures associated with mild gastroenteritis GARD:20074 MONDO:equivalentTo Benign infantile seizures associated with mild gastroenteritis -MONDO:0864335 benign infantile focal epilepsy with midline spikes and waves during sleep GARD:20075 MONDO:equivalentTo Benign infantile focal epilepsy with midline spikes and waves during sleep -MONDO:0864336 benign partial infantile seizures GARD:20076 MONDO:equivalentTo Benign partial infantile seizures -MONDO:0864337 audiogenic seizures GARD:20077 MONDO:equivalentTo Audiogenic seizures -MONDO:0864338 eating reflex epilepsy GARD:20078 MONDO:equivalentTo Eating reflex epilepsy -MONDO:0864339 orgasm-induced seizures GARD:20079 MONDO:equivalentTo Orgasm-induced seizures -MONDO:0864340 thinking seizures GARD:20080 MONDO:equivalentTo Thinking seizures -MONDO:0864341 startle epilepsy GARD:20081 MONDO:equivalentTo Startle epilepsy -MONDO:0864342 micturation-induced seizures GARD:20082 MONDO:equivalentTo Micturation-induced seizures -MONDO:0864343 epilepsy syndrome GARD:20083 MONDO:equivalentTo Epilepsy syndrome -MONDO:0864344 neurocutaneous syndrome with epilepsy GARD:20084 MONDO:equivalentTo Neurocutaneous syndrome with epilepsy -MONDO:0864345 chromosomal anomaly with epilepsy as a major feature GARD:20085 MONDO:equivalentTo Chromosomal anomaly with epilepsy as a major feature -MONDO:0864346 monogenic disease with epilepsy GARD:20086 MONDO:equivalentTo Monogenic disease with epilepsy -MONDO:0864347 idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes GARD:20087 MONDO:equivalentTo Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes -MONDO:0864348 cerebral malformation with epilepsy GARD:20088 MONDO:equivalentTo Cerebral malformation with epilepsy -MONDO:0864349 metabolic diseases with epilepsy GARD:20089 MONDO:equivalentTo Metabolic diseases with epilepsy -MONDO:0864350 dysmorphism-cleft palate-loose skin syndrome GARD:2009 MONDO:equivalentTo Dysmorphism-cleft palate-loose skin syndrome -MONDO:0864351 inflammatory and autoimmune disease with epilepsy GARD:20090 MONDO:equivalentTo Inflammatory and autoimmune disease with epilepsy -MONDO:0864352 cerebral diseases of vascular origin with epilepsy GARD:20091 MONDO:equivalentTo Cerebral diseases of vascular origin with epilepsy -MONDO:0864353 infectious disease with epilepsy GARD:20092 MONDO:equivalentTo Infectious disease with epilepsy -MONDO:0864354 rare hemorrhagic disorder due to an acquired coagulation factor defect GARD:20093 MONDO:equivalentTo Rare hemorrhagic disorder due to an acquired coagulation factor defect -MONDO:0864355 hereditary dentin defect GARD:20094 MONDO:equivalentTo Hereditary dentin defect -MONDO:0864356 rare disease with dentinogenesis imperfecta GARD:20095 MONDO:equivalentTo Rare disease with dentinogenesis imperfecta -MONDO:0864357 rare cardiomyopathy GARD:20096 MONDO:equivalentTo Rare cardiomyopathy -MONDO:0864358 rare cardiac tumor GARD:20097 MONDO:equivalentTo Rare cardiac tumor -MONDO:0864359 dysplasia of head of femur, meyer type GARD:20098 MONDO:equivalentTo Dysplasia of head of femur, Meyer type -MONDO:0864360 rare pervasive developmental disorder GARD:20099 MONDO:equivalentTo Rare pervasive developmental disorder -MONDO:0864361 ascher syndrome GARD:201 MONDO:equivalentTo Ascher syndrome -MONDO:0864362 primary peritoneal tumor GARD:20100 MONDO:equivalentTo Primary peritoneal tumor -MONDO:0864363 primary malignant peritoneal tumor GARD:20101 MONDO:equivalentTo Primary malignant peritoneal tumor -MONDO:0864364 malignant peritoneal mesothelioma GARD:20102 MONDO:equivalentTo Malignant peritoneal mesothelioma -MONDO:0864365 primary peritoneal carcinoma GARD:20103 MONDO:equivalentTo Primary peritoneal carcinoma -MONDO:0864366 chronic eosinophilic leukemia GARD:20104 MONDO:equivalentTo Chronic eosinophilic leukemia -MONDO:0864367 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of pdgfra, pdgfrb, fgfr1 or jak2 GARD:20105 MONDO:equivalentTo Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 -MONDO:0864368 myeloid/lymphoid neoplasm associated with pdgfra rearrangement GARD:20106 MONDO:equivalentTo Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement -MONDO:0864369 myeloid/lymphoid neoplasm associated with pdgfrb rearrangement GARD:20107 MONDO:equivalentTo Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement -MONDO:0864370 refractory anemia with excess blasts in transformation GARD:20108 MONDO:equivalentTo Refractory anemia with excess blasts in transformation -MONDO:0864371 composite lymphoma GARD:20109 MONDO:equivalentTo Composite lymphoma -MONDO:0864372 malignant melanoma of the mucosa GARD:20110 MONDO:equivalentTo Malignant melanoma of the mucosa -MONDO:0864373 immunoglobulin heavy chain deficiency GARD:20111 MONDO:equivalentTo Immunoglobulin heavy chain deficiency -MONDO:0864374 transient hypogammaglobulinemia of infancy GARD:20112 MONDO:equivalentTo Transient hypogammaglobulinemia of infancy -MONDO:0864375 familial scaphocephaly syndrome GARD:20113 MONDO:equivalentTo Familial scaphocephaly syndrome -MONDO:0864376 dna repair defect other than combined t-cell and b-cell immunodeficiencies GARD:20114 MONDO:equivalentTo DNA repair defect other than combined T-cell and B-cell immunodeficiencies -MONDO:0864377 immuno-osseous dysplasia GARD:20115 MONDO:equivalentTo Immuno-osseous dysplasia -MONDO:0864378 immunodeficiency syndrome with autoimmunity GARD:20116 MONDO:equivalentTo Immunodeficiency syndrome with autoimmunity -MONDO:0864379 immune dysregulation disease with immunodeficiency GARD:20117 MONDO:equivalentTo Immune dysregulation disease with immunodeficiency -MONDO:0864380 specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of b cells GARD:20118 MONDO:equivalentTo Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells -MONDO:0864381 idiopathic central precocious puberty GARD:20119 MONDO:equivalentTo Idiopathic central precocious puberty -MONDO:0864382 dysosteosclerosis GARD:2012 MONDO:equivalentTo Dysosteosclerosis -MONDO:0864383 secondary central precocious puberty GARD:20120 MONDO:equivalentTo Secondary central precocious puberty -MONDO:0864384 congenital vitamin k-dependent coagulation factors deficiency GARD:20121 MONDO:equivalentTo Congenital vitamin K-dependent coagulation factors deficiency -MONDO:0864385 rectal duplication GARD:20122 MONDO:equivalentTo Rectal duplication -MONDO:0864386 limbal stem cell deficiency GARD:20123 MONDO:equivalentTo Limbal stem cell deficiency -MONDO:0864387 idiopathic bilateral vestibulopathy GARD:20124 MONDO:equivalentTo Idiopathic bilateral vestibulopathy -MONDO:0864388 microcephaly-polymicrogyria-corpus callosum agenesis syndrome GARD:20125 MONDO:equivalentTo Microcephaly-polymicrogyria-corpus callosum agenesis syndrome -MONDO:0864389 6q16 microdeletion syndrome GARD:20126 MONDO:equivalentTo 6q16 microdeletion syndrome -MONDO:0864390 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome GARD:20127 MONDO:equivalentTo Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome -MONDO:0864391 intellectual disability-cataracts-kyphosis syndrome GARD:20128 MONDO:equivalentTo Intellectual disability-cataracts-kyphosis syndrome -MONDO:0864392 myopathy with hexagonally cross-linked tubular arrays GARD:20129 MONDO:equivalentTo Myopathy with hexagonally cross-linked tubular arrays -MONDO:0864393 myeloid hemopathy GARD:20130 MONDO:equivalentTo Myeloid hemopathy -MONDO:0864394 lymphoid hemopathy GARD:20131 MONDO:equivalentTo Lymphoid hemopathy -MONDO:0864395 b-cell non-hodgkin lymphoma GARD:20132 MONDO:equivalentTo B-cell non-Hodgkin lymphoma -MONDO:0864396 t-cell non-hodgkin lymphoma GARD:20133 MONDO:equivalentTo T-cell non-Hodgkin lymphoma -MONDO:0864397 congenital myopathy with cores GARD:20134 MONDO:equivalentTo Congenital myopathy with cores -MONDO:0864398 congenital hypogonadotropic hypogonadism GARD:20135 MONDO:equivalentTo Congenital hypogonadotropic hypogonadism -MONDO:0864399 rare adult hypothyroidism GARD:20136 MONDO:equivalentTo Rare adult hypothyroidism -MONDO:0864400 syndromic hypothyroidism GARD:20137 MONDO:equivalentTo Syndromic hypothyroidism -MONDO:0864401 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 GARD:20138 MONDO:equivalentTo Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 -MONDO:0864402 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 GARD:20139 MONDO:equivalentTo Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 -MONDO:0864403 non-acquired combined pituitary hormone deficiencies without extrapituitary malformations GARD:20140 MONDO:equivalentTo Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations -MONDO:0864404 rare peripheral precocious puberty GARD:20141 MONDO:equivalentTo Rare peripheral precocious puberty -MONDO:0864405 transient congenital hypothyroidism GARD:20142 MONDO:equivalentTo Transient congenital hypothyroidism -MONDO:0864406 antenatal multiminicore disease with arthrogryposis multiplex congenita GARD:20143 MONDO:equivalentTo Antenatal multiminicore disease with arthrogryposis multiplex congenita -MONDO:0864407 isolated sternocostoclavicular hyperostosis GARD:20144 MONDO:equivalentTo Isolated sternocostoclavicular hyperostosis -MONDO:0864408 undifferentiated embryonal sarcoma of the liver GARD:20145 MONDO:equivalentTo Undifferentiated embryonal sarcoma of the liver -MONDO:0864409 acute lung injury GARD:20146 MONDO:equivalentTo Acute lung injury -MONDO:0864410 osteosclerosis-developmental delay-craniosynostosis syndrome GARD:20147 MONDO:equivalentTo Osteosclerosis-developmental delay-craniosynostosis syndrome -MONDO:0864411 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation GARD:20148 MONDO:equivalentTo Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation -MONDO:0864412 wound botulism GARD:20149 MONDO:equivalentTo Wound botulism -MONDO:0864413 peripheral dysostosis GARD:2015 MONDO:equivalentTo Peripheral dysostosis -MONDO:0864414 infant botulism GARD:20150 MONDO:equivalentTo Infant botulism -MONDO:0864415 intestinal botulism GARD:20151 MONDO:equivalentTo Intestinal botulism -MONDO:0864416 adult intestinal botulism GARD:20152 MONDO:equivalentTo Adult intestinal botulism -MONDO:0864417 myopic macular degeneration GARD:20153 MONDO:equivalentTo Myopic macular degeneration -MONDO:0864418 folliculotropic mycosis fungoides GARD:20154 MONDO:equivalentTo Folliculotropic mycosis fungoides -MONDO:0864419 localized pagetoid reticulosis GARD:20155 MONDO:equivalentTo Localized pagetoid reticulosis -MONDO:0864420 primary cutaneous cd4+ small/medium-sized pleomorphic t-cell lymphoma GARD:20156 MONDO:equivalentTo Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma -MONDO:0864421 primary cutaneous aggressive epidermotropic cd8+ t-cell lymphoma GARD:20157 MONDO:equivalentTo Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma -MONDO:0864422 primary cutaneous gamma/delta-positive t-cell lymphoma GARD:20158 MONDO:equivalentTo Primary cutaneous gamma/delta-positive T-cell lymphoma -MONDO:0864423 primary cutaneous marginal zone b-cell lymphoma GARD:20159 MONDO:equivalentTo Primary cutaneous marginal zone B-cell lymphoma -MONDO:0864424 dysostosis, stanescu type GARD:2016 MONDO:equivalentTo Dysostosis, Stanescu type -MONDO:0864425 primary cutaneous diffuse large b-cell lymphoma, leg type GARD:20160 MONDO:equivalentTo Primary cutaneous diffuse large B-cell lymphoma, leg type -MONDO:0864426 indolent primary cutaneous t-cell lymphoma GARD:20161 MONDO:equivalentTo Indolent primary cutaneous T-cell lymphoma -MONDO:0864427 aggressive primary cutaneous t-cell lymphoma GARD:20162 MONDO:equivalentTo Aggressive primary cutaneous T-cell lymphoma -MONDO:0864428 aggressive primary cutaneous b-cell lymphoma GARD:20163 MONDO:equivalentTo Aggressive primary cutaneous B-cell lymphoma -MONDO:0864429 indolent primary cutaneous b-cell lymphoma GARD:20164 MONDO:equivalentTo Indolent primary cutaneous B-cell lymphoma -MONDO:0864430 primary cutaneous b-cell lymphoma GARD:20165 MONDO:equivalentTo Primary cutaneous B-cell lymphoma -MONDO:0864431 mycosis fungoides and variants GARD:20166 MONDO:equivalentTo Mycosis fungoides and variants -MONDO:0864432 acquired neutropenia GARD:20167 MONDO:equivalentTo Acquired neutropenia -MONDO:0864433 primary immunodeficiency due to a defect in adaptive immunity GARD:20168 MONDO:equivalentTo Primary immunodeficiency due to a defect in adaptive immunity -MONDO:0864434 obesity due to congenital leptin resistance GARD:20169 MONDO:equivalentTo Obesity due to congenital leptin resistance -MONDO:0864435 uterovaginal malformation GARD:20170 MONDO:equivalentTo Uterovaginal malformation -MONDO:0864436 non-syndromic uterovaginal malformation GARD:20171 MONDO:equivalentTo Non-syndromic uterovaginal malformation -MONDO:0864437 partial bilateral aplasia of the müllerian ducts GARD:20172 MONDO:equivalentTo Partial bilateral aplasia of the Müllerian ducts -MONDO:0864438 unilateral aplasia of the müllerian ducts GARD:20173 MONDO:equivalentTo Unilateral aplasia of the Müllerian ducts -MONDO:0864439 true unicornuate uterus GARD:20174 MONDO:equivalentTo True unicornuate uterus -MONDO:0864440 pseudounicornuate uterus GARD:20175 MONDO:equivalentTo Pseudounicornuate uterus -MONDO:0864441 didelphys uterus GARD:20176 MONDO:equivalentTo Didelphys uterus -MONDO:0864442 bicervical bicornuate uterus and blind hemivagina GARD:20177 MONDO:equivalentTo Bicervical bicornuate uterus and blind hemivagina -MONDO:0864443 bicervical bicornuate uterus with patent cervix and vagina GARD:20178 MONDO:equivalentTo Bicervical bicornuate uterus with patent cervix and vagina -MONDO:0864444 unicervical bicornuate uterus GARD:20179 MONDO:equivalentTo Unicervical bicornuate uterus -MONDO:0864445 septate uterus GARD:20180 MONDO:equivalentTo Septate uterus -MONDO:0864446 complete septate uterus GARD:20181 MONDO:equivalentTo Complete septate uterus -MONDO:0864447 partial septate uterus GARD:20182 MONDO:equivalentTo Partial septate uterus -MONDO:0864448 bicornuate uterus GARD:20183 MONDO:equivalentTo Bicornuate uterus -MONDO:0864449 uterine hypoplasia GARD:20184 MONDO:equivalentTo Uterine hypoplasia -MONDO:0864450 absence of uterine body GARD:20185 MONDO:equivalentTo Absence of uterine body -MONDO:0864451 uterine cervical aplasia and agenesis GARD:20186 MONDO:equivalentTo Uterine cervical aplasia and agenesis -MONDO:0864452 syndromic uterovaginal malformation GARD:20187 MONDO:equivalentTo Syndromic uterovaginal malformation -MONDO:0864453 rare vaginal malformation GARD:20188 MONDO:equivalentTo Rare vaginal malformation -MONDO:0864454 septate vagina GARD:20189 MONDO:equivalentTo Septate vagina -MONDO:0864455 dysplasia epiphysealis hemimelica GARD:2019 MONDO:equivalentTo Dysplasia epiphysealis hemimelica -MONDO:0864456 longitudinal vaginal septum GARD:20190 MONDO:equivalentTo Longitudinal vaginal septum -MONDO:0864457 transverse vaginal septum GARD:20191 MONDO:equivalentTo Transverse vaginal septum -MONDO:0864458 rare breast malformation GARD:20192 MONDO:equivalentTo Rare breast malformation -MONDO:0864459 excess breast volume or number GARD:20193 MONDO:equivalentTo Excess breast volume or number -MONDO:0864460 deficient breast volume or number GARD:20194 MONDO:equivalentTo Deficient breast volume or number -MONDO:0864461 supernumerary breasts GARD:20195 MONDO:equivalentTo Supernumerary breasts -MONDO:0864462 syndromic breast hypoplasia/aplasia GARD:20196 MONDO:equivalentTo Syndromic breast hypoplasia/aplasia -MONDO:0864463 rare non-malformative gynecologic or obstetric disease GARD:20197 MONDO:equivalentTo Rare non-malformative gynecologic or obstetric disease -MONDO:0864464 rare non-malformative breast disease GARD:20198 MONDO:equivalentTo Rare non-malformative breast disease -MONDO:0864465 rare non-malformative uterovaginal or vulvovaginal disease GARD:20199 MONDO:equivalentTo Rare non-malformative uterovaginal or vulvovaginal disease -MONDO:0864466 anomaly of puberty or/and menstrual cycle GARD:20200 MONDO:equivalentTo Anomaly of puberty or/and menstrual cycle -MONDO:0864467 rare uterine adnexal tumor GARD:20201 MONDO:equivalentTo Rare uterine adnexal tumor -MONDO:0864468 mixed germ cell tumor GARD:20202 MONDO:equivalentTo Mixed germ cell tumor -MONDO:0864469 benign tumor of fallopian tubes GARD:20203 MONDO:equivalentTo Benign tumor of fallopian tubes -MONDO:0864470 malignant tumor of fallopian tubes GARD:20204 MONDO:equivalentTo Malignant tumor of fallopian tubes -MONDO:0864471 rare breast tumor GARD:20205 MONDO:equivalentTo Rare breast tumor -MONDO:0864472 giant adenofibroma of the breast GARD:20206 MONDO:equivalentTo Giant adenofibroma of the breast -MONDO:0864473 rare non-malformative uterine adnexal disease GARD:20207 MONDO:equivalentTo Rare non-malformative uterine adnexal disease -MONDO:0864474 rare vulvovaginal tumor GARD:20208 MONDO:equivalentTo Rare vulvovaginal tumor -MONDO:0864475 malformative syndrome with dentinogenesis imperfecta GARD:20209 MONDO:equivalentTo Malformative syndrome with dentinogenesis imperfecta -MONDO:0864476 non-syndromic diaphragmatic or thoracic malformation GARD:20211 MONDO:equivalentTo Non-syndromic diaphragmatic or thoracic malformation -MONDO:0864477 syndromic diaphragmatic or thoracic malformation GARD:20212 MONDO:equivalentTo Syndromic diaphragmatic or thoracic malformation -MONDO:0864478 rare gastroesophageal tumor GARD:20213 MONDO:equivalentTo Rare gastroesophageal tumor -MONDO:0864479 rare insulin-resistance syndrome GARD:20214 MONDO:equivalentTo Rare insulin-resistance syndrome -MONDO:0864480 rare diabetes mellitus type 1 GARD:20215 MONDO:equivalentTo Rare diabetes mellitus type 1 -MONDO:0864481 rare diabetes mellitus type 2 GARD:20216 MONDO:equivalentTo Rare diabetes mellitus type 2 -MONDO:0864482 other rare diabetes mellitus GARD:20217 MONDO:equivalentTo Other rare diabetes mellitus -MONDO:0864483 rare hypothalamic or pituitary disease GARD:20218 MONDO:equivalentTo Rare hypothalamic or pituitary disease -MONDO:0864484 rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism GARD:20219 MONDO:equivalentTo Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism -MONDO:0864485 dysplastic cortical hyperostosis GARD:2022 MONDO:equivalentTo Dysplastic cortical hyperostosis -MONDO:0864486 endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature GARD:20220 MONDO:equivalentTo Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature -MONDO:0864487 rare hypothyroidism GARD:20221 MONDO:equivalentTo Rare hypothyroidism -MONDO:0864488 rare hyperthyroidism GARD:20222 MONDO:equivalentTo Rare hyperthyroidism -MONDO:0864489 syndrome with hypoparathyroidism GARD:20223 MONDO:equivalentTo Syndrome with hypoparathyroidism -MONDO:0864490 rare hypoparathyroidism GARD:20224 MONDO:equivalentTo Rare hypoparathyroidism -MONDO:0864491 rare hyperparathyroidism GARD:20225 MONDO:equivalentTo Rare hyperparathyroidism -MONDO:0864492 adrenogenital syndrome GARD:20226 MONDO:equivalentTo Adrenogenital syndrome -MONDO:0864493 rare primary hyperaldosteronism GARD:20227 MONDO:equivalentTo Rare primary hyperaldosteronism -MONDO:0864494 rare hypoaldosteronism GARD:20228 MONDO:equivalentTo Rare hypoaldosteronism -MONDO:0864495 rare hyperlipidemia GARD:20229 MONDO:equivalentTo Rare hyperlipidemia -MONDO:0864496 hyperalphalipoproteinemia GARD:20230 MONDO:equivalentTo Hyperalphalipoproteinemia -MONDO:0864497 rare hypolipidemia GARD:20231 MONDO:equivalentTo Rare hypolipidemia -MONDO:0864498 rare syndromic dyslipidemia GARD:20232 MONDO:equivalentTo Rare syndromic dyslipidemia -MONDO:0864499 rare disorder with hypergonadotropic hypogonadism GARD:20233 MONDO:equivalentTo Rare disorder with hypergonadotropic hypogonadism -MONDO:0864500 aplastic anemia GARD:20234 MONDO:equivalentTo Aplastic anemia -MONDO:0864501 rare constitutional hemolytic anemia GARD:20235 MONDO:equivalentTo Rare constitutional hemolytic anemia -MONDO:0864502 rare acquired hemolytic anemia GARD:20236 MONDO:equivalentTo Rare acquired hemolytic anemia -MONDO:0864503 rare thrombotic disease of hematologic origin GARD:20237 MONDO:equivalentTo Rare thrombotic disease of hematologic origin -MONDO:0864504 cerebellar malformation GARD:20238 MONDO:equivalentTo Cerebellar malformation -MONDO:0864505 rare neuroinflammatory or neuroimmunological disease GARD:20239 MONDO:equivalentTo Rare neuroinflammatory or neuroimmunological disease -MONDO:0864506 rare neurodegenerative disease GARD:20240 MONDO:equivalentTo Rare neurodegenerative disease -MONDO:0864507 arx-related epileptic encephalopathy GARD:20241 MONDO:equivalentTo ARX-related epileptic encephalopathy -MONDO:0864508 channelopathy with epilepsy GARD:20242 MONDO:equivalentTo Channelopathy with epilepsy -MONDO:0864509 acquired peripheral neuropathy GARD:20243 MONDO:equivalentTo Acquired peripheral neuropathy -MONDO:0864510 interstitial lung disease GARD:20244 MONDO:equivalentTo Interstitial lung disease -MONDO:0864511 pneumoconiosis GARD:20245 MONDO:equivalentTo Pneumoconiosis -MONDO:0864512 idiopathic eosinophilic pneumonia GARD:20246 MONDO:equivalentTo Idiopathic eosinophilic pneumonia -MONDO:0864513 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease GARD:20247 MONDO:equivalentTo Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease -MONDO:0864514 thoracic malformation GARD:20248 MONDO:equivalentTo Thoracic malformation -MONDO:0864515 respiratory malformation GARD:20249 MONDO:equivalentTo Respiratory malformation -MONDO:0864516 rare urogenital tumor GARD:20250 MONDO:equivalentTo Rare urogenital tumor -MONDO:0864517 non-syndromic urogenital tract malformation of female GARD:20251 MONDO:equivalentTo Non-syndromic urogenital tract malformation of female -MONDO:0864518 non-syndromic urogenital tract malformation of male GARD:20252 MONDO:equivalentTo Non-syndromic urogenital tract malformation of male -MONDO:0864519 non-syndromic urogenital tract malformation of male and female GARD:20253 MONDO:equivalentTo Non-syndromic urogenital tract malformation of male and female -MONDO:0864520 tumor of endocrine glands GARD:20254 MONDO:equivalentTo Tumor of endocrine glands -MONDO:0864521 rare systemic disease GARD:20255 MONDO:equivalentTo Rare systemic disease -MONDO:0864522 systemic autoimmune disease GARD:20256 MONDO:equivalentTo Systemic autoimmune disease -MONDO:0864523 rare rheumatologic disease GARD:20257 MONDO:equivalentTo Rare rheumatologic disease -MONDO:0864524 genetic urticaria GARD:20258 MONDO:equivalentTo Genetic urticaria -MONDO:0864525 polymalformative genetic syndrome with increased risk of developing cancer GARD:20259 MONDO:equivalentTo Polymalformative genetic syndrome with increased risk of developing cancer -MONDO:0864526 dyssegmental dysplasia, silverman-handmaker type GARD:2026 MONDO:equivalentTo Dyssegmental dysplasia, Silverman-Handmaker type -MONDO:0864527 genetic epidermal disorder GARD:20260 MONDO:equivalentTo Genetic epidermal disorder -MONDO:0864528 inherited ichthyosis GARD:20261 MONDO:equivalentTo Inherited ichthyosis -MONDO:0864529 genetic erythrokeratoderma GARD:20262 MONDO:equivalentTo Genetic erythrokeratoderma -MONDO:0864530 genetic acrokeratoderma GARD:20263 MONDO:equivalentTo Genetic acrokeratoderma -MONDO:0864531 genetic porokeratosis GARD:20264 MONDO:equivalentTo Genetic porokeratosis -MONDO:0864532 genetic epidermal appendage anomaly GARD:20265 MONDO:equivalentTo Genetic epidermal appendage anomaly -MONDO:0864533 genetic hair anomaly GARD:20266 MONDO:equivalentTo Genetic hair anomaly -MONDO:0864534 genetic nail anomaly GARD:20267 MONDO:equivalentTo Genetic nail anomaly -MONDO:0864535 genetic sebaceous gland anomaly GARD:20268 MONDO:equivalentTo Genetic sebaceous gland anomaly -MONDO:0864536 genetic pigmentation anomaly of the skin GARD:20269 MONDO:equivalentTo Genetic pigmentation anomaly of the skin -MONDO:0864537 early-onset generalized limb-onset dystonia GARD:2027 MONDO:equivalentTo Early-onset generalized limb-onset dystonia -MONDO:0864538 genetic hyperpigmentation of the skin GARD:20270 MONDO:equivalentTo Genetic hyperpigmentation of the skin -MONDO:0864539 genetic hypopigmentation of the skin GARD:20271 MONDO:equivalentTo Genetic hypopigmentation of the skin -MONDO:0864540 genetic dermis disorder GARD:20272 MONDO:equivalentTo Genetic dermis disorder -MONDO:0864541 genetic skin vascular disorder GARD:20273 MONDO:equivalentTo Genetic skin vascular disorder -MONDO:0864542 genetic mixed dermis disorder GARD:20274 MONDO:equivalentTo Genetic mixed dermis disorder -MONDO:0864543 genetic subcutaneous tissue disorder GARD:20275 MONDO:equivalentTo Genetic subcutaneous tissue disorder -MONDO:0864544 genetic skin tumor or hamartoma GARD:20276 MONDO:equivalentTo Genetic skin tumor or hamartoma -MONDO:0864545 genetic photodermatosis GARD:20277 MONDO:equivalentTo Genetic photodermatosis -MONDO:0864546 genetic immune deficiency with skin involvement GARD:20278 MONDO:equivalentTo Genetic immune deficiency with skin involvement -MONDO:0864547 genetic neuromuscular disease GARD:20279 MONDO:equivalentTo Genetic neuromuscular disease -MONDO:0864548 primary dystonia, dyt2 type GARD:2028 MONDO:equivalentTo Primary dystonia, DYT2 type -MONDO:0864549 genetic neurodegenerative disease GARD:20280 MONDO:equivalentTo Genetic neurodegenerative disease -MONDO:0864550 genetic central nervous system and retinal vascular disease GARD:20281 MONDO:equivalentTo Genetic central nervous system and retinal vascular disease -MONDO:0864551 genetic central nervous system malformation GARD:20282 MONDO:equivalentTo Genetic central nervous system malformation -MONDO:0864552 rare genetic headache GARD:20283 MONDO:equivalentTo Rare genetic headache -MONDO:0864553 rare genetic epilepsy GARD:20284 MONDO:equivalentTo Rare genetic epilepsy -MONDO:0864554 rare genetic medullar disease GARD:20285 MONDO:equivalentTo Rare genetic medullar disease -MONDO:0864555 rare hereditary ataxia GARD:20286 MONDO:equivalentTo Rare hereditary ataxia -MONDO:0864556 rare genetic movement disorder GARD:20287 MONDO:equivalentTo Rare genetic movement disorder -MONDO:0864557 rare genetic bone disease GARD:20288 MONDO:equivalentTo Rare genetic bone disease -MONDO:0864558 genetic bone tumor GARD:20289 MONDO:equivalentTo Genetic bone tumor -MONDO:0864559 rare genetic developmental defect during embryogenesis GARD:20290 MONDO:equivalentTo Rare genetic developmental defect during embryogenesis -MONDO:0864560 genetic multiple congenital anomalies/dysmorphic syndrome GARD:20291 MONDO:equivalentTo Genetic multiple congenital anomalies/dysmorphic syndrome -MONDO:0864561 genetic congenital limb malformation GARD:20292 MONDO:equivalentTo Genetic congenital limb malformation -MONDO:0864562 genetic renal or urinary tract malformation GARD:20293 MONDO:equivalentTo Genetic renal or urinary tract malformation -MONDO:0864563 genetic cranial malformation GARD:20294 MONDO:equivalentTo Genetic cranial malformation -MONDO:0864564 genetic digestive tract malformation GARD:20295 MONDO:equivalentTo Genetic digestive tract malformation -MONDO:0864565 genetic visceral malformation of the liver, biliary tract, pancreas or spleen GARD:20296 MONDO:equivalentTo Genetic visceral malformation of the liver, biliary tract, pancreas or spleen -MONDO:0864566 genetic respiratory or mediastinal malformation GARD:20297 MONDO:equivalentTo Genetic respiratory or mediastinal malformation -MONDO:0864567 genetic developmental defect of the eye GARD:20298 MONDO:equivalentTo Genetic developmental defect of the eye -MONDO:0864568 genetic malformation syndrome with short stature GARD:20299 MONDO:equivalentTo Genetic malformation syndrome with short stature -MONDO:0864569 genetic overgrowth/obesity syndrome GARD:20300 MONDO:equivalentTo Genetic overgrowth/obesity syndrome -MONDO:0864570 genetic branchial arch or oral-acral syndrome GARD:20301 MONDO:equivalentTo Genetic branchial arch or oral-acral syndrome -MONDO:0864571 genetic malformation syndrome with odontal and/or periodontal component GARD:20302 MONDO:equivalentTo Genetic malformation syndrome with odontal and/or periodontal component -MONDO:0864572 genetic head and neck malformation GARD:20303 MONDO:equivalentTo Genetic head and neck malformation -MONDO:0864573 genetic glomerular disease GARD:20304 MONDO:equivalentTo Genetic glomerular disease -MONDO:0864574 genetic thrombotic microangiopathy GARD:20305 MONDO:equivalentTo Genetic thrombotic microangiopathy -MONDO:0864575 genetic renal tubular disease GARD:20306 MONDO:equivalentTo Genetic renal tubular disease -MONDO:0864576 genetic renal tumor GARD:20307 MONDO:equivalentTo Genetic renal tumor -MONDO:0864577 genetic lens and zonula anomaly GARD:20308 MONDO:equivalentTo Genetic lens and zonula anomaly -MONDO:0864578 genetic neuro-ophthalmological disease GARD:20309 MONDO:equivalentTo Genetic neuro-ophthalmological disease -MONDO:0864579 qualitative or quantitative defects of dystrophin GARD:2031 MONDO:equivalentTo Qualitative or quantitative defects of dystrophin -MONDO:0864580 genetic eye tumor GARD:20310 MONDO:equivalentTo Genetic eye tumor -MONDO:0864581 genetic respiratory malformation GARD:20311 MONDO:equivalentTo Genetic respiratory malformation -MONDO:0864582 rare genetic diabetes mellitus GARD:20312 MONDO:equivalentTo Rare genetic diabetes mellitus -MONDO:0864583 rare genetic hypothalamic or pituitary disease GARD:20313 MONDO:equivalentTo Rare genetic hypothalamic or pituitary disease -MONDO:0864584 rare genetic thyroid disease GARD:20314 MONDO:equivalentTo Rare genetic thyroid disease -MONDO:0864585 rare genetic parathyroid disease and phosphocalcic metabolism disorder GARD:20315 MONDO:equivalentTo Rare genetic parathyroid disease and phosphocalcic metabolism disorder -MONDO:0864586 rare genetic adrenal disease GARD:20316 MONDO:equivalentTo Rare genetic adrenal disease -MONDO:0864587 genetic polyendocrinopathy GARD:20317 MONDO:equivalentTo Genetic polyendocrinopathy -MONDO:0864588 rare constitutional anemia GARD:20318 MONDO:equivalentTo Rare constitutional anemia -MONDO:0864589 rare genetic coagulation disorder GARD:20319 MONDO:equivalentTo Rare genetic coagulation disorder -MONDO:0864590 agammaglobulinemia GARD:20320 MONDO:equivalentTo Agammaglobulinemia -MONDO:0864591 functional neutrophil defect GARD:20321 MONDO:equivalentTo Functional neutrophil defect -MONDO:0864592 genetic susceptibility to infections due to particular pathogens GARD:20322 MONDO:equivalentTo Genetic susceptibility to infections due to particular pathogens -MONDO:0864593 rare genetic gynecological and obstetrical diseases GARD:20323 MONDO:equivalentTo Rare genetic gynecological and obstetrical diseases -MONDO:0864594 genetic gynecological tumor GARD:20324 MONDO:equivalentTo Genetic gynecological tumor -MONDO:0864595 rare genetic intellectual disability GARD:20325 MONDO:equivalentTo Rare genetic intellectual disability -MONDO:0864596 rare genetic syndromic intellectual disability GARD:20326 MONDO:equivalentTo Rare genetic syndromic intellectual disability -MONDO:0864597 rare genetic immune disease GARD:20327 MONDO:equivalentTo Rare genetic immune disease -MONDO:0864598 superficial fibromatosis GARD:20328 MONDO:equivalentTo Superficial fibromatosis -MONDO:0864599 calcifying aponeurotic fibroma GARD:20329 MONDO:equivalentTo Calcifying aponeurotic fibroma -MONDO:0864600 ear-patella-short stature syndrome GARD:2033 MONDO:equivalentTo Ear-patella-short stature syndrome -MONDO:0864601 congenital microgastria GARD:20330 MONDO:equivalentTo Congenital microgastria -MONDO:0864602 late-onset isolated acth deficiency GARD:20331 MONDO:equivalentTo Late-onset isolated ACTH deficiency -MONDO:0864603 tetragametic chimerism GARD:20332 MONDO:equivalentTo Tetragametic chimerism -MONDO:0864604 endophthalmitis GARD:20333 MONDO:equivalentTo Endophthalmitis -MONDO:0864605 isolated autosomal dominant hypomagnesemia, glaudemans type GARD:20334 MONDO:equivalentTo Isolated autosomal dominant hypomagnesemia, Glaudemans type -MONDO:0864606 congenital myopathy, paradas type GARD:20335 MONDO:equivalentTo Congenital myopathy, Paradas type -MONDO:0864607 atypical autism GARD:20336 MONDO:equivalentTo Atypical autism -MONDO:0864608 isolated cerebellar vermis hypoplasia GARD:20337 MONDO:equivalentTo Isolated cerebellar vermis hypoplasia -MONDO:0864609 non-syndromic cerebral malformation GARD:20338 MONDO:equivalentTo Non-syndromic cerebral malformation -MONDO:0864610 syndrome with corpus callosum agenesis/dysgenesis as a major feature GARD:20339 MONDO:equivalentTo Syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0864611 paroxysmal dystonia GARD:20340 MONDO:equivalentTo Paroxysmal dystonia -MONDO:0864612 anomaly of puberty or/and menstrual cycle of genetic origin GARD:20341 MONDO:equivalentTo Anomaly of puberty or/and menstrual cycle of genetic origin -MONDO:0864613 syndromic microphthalmia-anophthalmia-coloboma GARD:20342 MONDO:equivalentTo Syndromic microphthalmia-anophthalmia-coloboma -MONDO:0864614 infantile krabbe disease GARD:20343 MONDO:equivalentTo Infantile Krabbe disease -MONDO:0864615 late-infantile/juvenile krabbe disease GARD:20344 MONDO:equivalentTo Late-infantile/juvenile Krabbe disease -MONDO:0864616 adult krabbe disease GARD:20345 MONDO:equivalentTo Adult Krabbe disease -MONDO:0864617 cystadenoma of childhood GARD:20346 MONDO:equivalentTo Cystadenoma of childhood -MONDO:0864618 malignant germ cell tumor of the vagina GARD:20347 MONDO:equivalentTo Malignant germ cell tumor of the vagina -MONDO:0864619 vulvovaginal rhabdomyosarcoma GARD:20348 MONDO:equivalentTo Vulvovaginal rhabdomyosarcoma -MONDO:0864620 malignant non-dysgerminomatous germ cell tumor of ovary GARD:20349 MONDO:equivalentTo Malignant non-dysgerminomatous germ cell tumor of ovary -MONDO:0864621 ebola hemorrhagic fever GARD:2035 MONDO:equivalentTo Ebola hemorrhagic fever -MONDO:0864622 symptomatic form of muscular dystrophy of duchenne and becker in female carriers GARD:20350 MONDO:equivalentTo Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers -MONDO:0864623 immune-mediated necrotizing myopathy GARD:20351 MONDO:equivalentTo Immune-mediated necrotizing myopathy -MONDO:0864624 overlap myositis GARD:20352 MONDO:equivalentTo Overlap myositis -MONDO:0864625 rippling muscle disease with myasthenia gravis GARD:20353 MONDO:equivalentTo Rippling muscle disease with myasthenia gravis -MONDO:0864626 neurolymphomatosis GARD:20354 MONDO:equivalentTo Neurolymphomatosis -MONDO:0864627 subacute inflammatory demyelinating polyneuropathy GARD:20355 MONDO:equivalentTo Subacute inflammatory demyelinating polyneuropathy -MONDO:0864628 isolated asymptomatic elevation of creatine phosphokinase GARD:20356 MONDO:equivalentTo Isolated asymptomatic elevation of creatine phosphokinase -MONDO:0864629 infectious disease with peripheral neuropathy GARD:20357 MONDO:equivalentTo Infectious disease with peripheral neuropathy -MONDO:0864630 genetic skeletal muscle disease GARD:20358 MONDO:equivalentTo Genetic skeletal muscle disease -MONDO:0864631 acquired skeletal muscle disease GARD:20359 MONDO:equivalentTo Acquired skeletal muscle disease -MONDO:0864632 progressive muscular dystrophy GARD:20360 MONDO:equivalentTo Progressive muscular dystrophy -MONDO:0864633 autosomal dominant distal myopathy GARD:20361 MONDO:equivalentTo Autosomal dominant distal myopathy -MONDO:0864634 autosomal recessive distal myopathy GARD:20362 MONDO:equivalentTo Autosomal recessive distal myopathy -MONDO:0864635 non-dystrophic myopathy GARD:20363 MONDO:equivalentTo Non-dystrophic myopathy -MONDO:0864636 inclusion myopathy GARD:20364 MONDO:equivalentTo Inclusion myopathy -MONDO:0864637 bulbospinal muscular atrophy GARD:20365 MONDO:equivalentTo Bulbospinal muscular atrophy -MONDO:0864638 bulbospinal muscular atrophy of childhood GARD:20366 MONDO:equivalentTo Bulbospinal muscular atrophy of childhood -MONDO:0864639 bulbospinal muscular atrophy of adult GARD:20367 MONDO:equivalentTo Bulbospinal muscular atrophy of adult -MONDO:0864640 generalized bulbospinal muscular atrophy GARD:20368 MONDO:equivalentTo Generalized bulbospinal muscular atrophy -MONDO:0864641 muscular lipidosis GARD:20369 MONDO:equivalentTo Muscular lipidosis -MONDO:0864642 muscular glycogenosis GARD:20370 MONDO:equivalentTo Muscular glycogenosis -MONDO:0864643 mitochondrial myopathy GARD:20371 MONDO:equivalentTo Mitochondrial myopathy -MONDO:0864644 myotonic syndrome GARD:20372 MONDO:equivalentTo Myotonic syndrome -MONDO:0864645 congenital myotonia GARD:20373 MONDO:equivalentTo Congenital myotonia -MONDO:0864646 periodic paralysis GARD:20374 MONDO:equivalentTo Periodic paralysis -MONDO:0864647 muscular tumor GARD:20375 MONDO:equivalentTo Muscular tumor -MONDO:0864648 infectious, fungal or parasitic myopathy GARD:20376 MONDO:equivalentTo Infectious, fungal or parasitic myopathy -MONDO:0864649 viral myositis GARD:20377 MONDO:equivalentTo Viral myositis -MONDO:0864650 bacterial myositis GARD:20378 MONDO:equivalentTo Bacterial myositis -MONDO:0864651 parasitic myositis GARD:20379 MONDO:equivalentTo Parasitic myositis -MONDO:0864652 fungal myositis GARD:20380 MONDO:equivalentTo Fungal myositis -MONDO:0864653 spinal muscular atrophy associated with central nervous system anomaly GARD:20381 MONDO:equivalentTo Spinal muscular atrophy associated with central nervous system anomaly -MONDO:0864654 rare hereditary metabolic disease with peripheral neuropathy GARD:20382 MONDO:equivalentTo Rare hereditary metabolic disease with peripheral neuropathy -MONDO:0864655 rare hereditary systemic disease with peripheral neuropathy GARD:20383 MONDO:equivalentTo Rare hereditary systemic disease with peripheral neuropathy -MONDO:0864656 rare hereditary neurologic disease with peripheral neuropathy GARD:20384 MONDO:equivalentTo Rare hereditary neurologic disease with peripheral neuropathy -MONDO:0864657 cerebellar ataxia with peripheral neuropathy GARD:20385 MONDO:equivalentTo Cerebellar ataxia with peripheral neuropathy -MONDO:0864658 acute and subacute inflammatory demyelinating polyneuropathy GARD:20386 MONDO:equivalentTo Acute and subacute inflammatory demyelinating polyneuropathy -MONDO:0864659 malignant lymphoma with peripheral neuropathy GARD:20387 MONDO:equivalentTo Malignant lymphoma with peripheral neuropathy -MONDO:0864660 qualitative or quantitative protein defects in neuromuscular diseases GARD:20388 MONDO:equivalentTo Qualitative or quantitative protein defects in neuromuscular diseases -MONDO:0864661 qualitative or quantitative defects of sarcoglycan GARD:20389 MONDO:equivalentTo Qualitative or quantitative defects of sarcoglycan -MONDO:0864662 qualitative or quantitative defects of alpha-sarcoglycan GARD:20390 MONDO:equivalentTo Qualitative or quantitative defects of alpha-sarcoglycan -MONDO:0864663 qualitative or quantitative defects of beta-sarcoglycan GARD:20391 MONDO:equivalentTo Qualitative or quantitative defects of beta-sarcoglycan -MONDO:0864664 qualitative or quantitative defects of gamma-sarcoglycan GARD:20392 MONDO:equivalentTo Qualitative or quantitative defects of gamma-sarcoglycan -MONDO:0864665 qualitative or quantitative defects of delta-sarcoglycan GARD:20393 MONDO:equivalentTo Qualitative or quantitative defects of delta-sarcoglycan -MONDO:0864666 qualitative or quantitative defects of caveolin-3 GARD:20394 MONDO:equivalentTo Qualitative or quantitative defects of caveolin-3 -MONDO:0864667 qualitative or quantitative defects of collagen 6 GARD:20395 MONDO:equivalentTo Qualitative or quantitative defects of collagen 6 -MONDO:0864668 laminin subunit alpha 2-related muscular dystrophy GARD:20396 MONDO:equivalentTo Laminin subunit alpha 2-related muscular dystrophy -MONDO:0864669 qualitative or quantitative defects of integrin alpha-7 GARD:20397 MONDO:equivalentTo Qualitative or quantitative defects of integrin alpha-7 -MONDO:0864670 qualitative or quantitative defects of perlecan GARD:20398 MONDO:equivalentTo Qualitative or quantitative defects of perlecan -MONDO:0864671 qualitative or quantitative defects of calpain GARD:20399 MONDO:equivalentTo Qualitative or quantitative defects of calpain -MONDO:0864672 qualitative or quantitative defects of trim32 GARD:20400 MONDO:equivalentTo Qualitative or quantitative defects of TRIM32 -MONDO:0864673 qualitative or quantitative defects of myotubularin GARD:20401 MONDO:equivalentTo Qualitative or quantitative defects of myotubularin -MONDO:0864674 qualitative or quantitative defects of protein involved in o-glycosylation of alpha-dystroglycan GARD:20402 MONDO:equivalentTo Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan -MONDO:0864675 qualitative or quantitative defects of fkrp GARD:20403 MONDO:equivalentTo Qualitative or quantitative defects of FKRP -MONDO:0864676 qualitative or quantitative defects of fukutin GARD:20404 MONDO:equivalentTo Qualitative or quantitative defects of fukutin -MONDO:0864677 autosomal dominant cerebellar ataxia type ii GARD:20405 MONDO:equivalentTo Autosomal dominant cerebellar ataxia type II -MONDO:0864678 herpetiform pemphigus GARD:20406 MONDO:equivalentTo Herpetiform pemphigus -MONDO:0864679 genetic hypoparathyroidism GARD:20407 MONDO:equivalentTo Genetic hypoparathyroidism -MONDO:0864680 genetic hyperparathyroidism GARD:20408 MONDO:equivalentTo Genetic hyperparathyroidism -MONDO:0864681 chronic acquired demyelinating polyneuropathy GARD:20409 MONDO:equivalentTo Chronic acquired demyelinating polyneuropathy -MONDO:0864682 chronic polyradiculoneuropathy GARD:20410 MONDO:equivalentTo Chronic polyradiculoneuropathy -MONDO:0864683 polyradiculoneuropathy associated with igg/iga/igm monoclonal gammopathy without known antibodies GARD:20411 MONDO:equivalentTo Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies -MONDO:0864684 acquired sensory ganglionopathy GARD:20412 MONDO:equivalentTo Acquired sensory ganglionopathy -MONDO:0864685 non-paraneoplastic sensory ganglionopathy GARD:20413 MONDO:equivalentTo Non-paraneoplastic sensory ganglionopathy -MONDO:0864686 paraneoplastic sensory ganglionopathy GARD:20414 MONDO:equivalentTo Paraneoplastic sensory ganglionopathy -MONDO:0864687 axonal polyneuropathy associated with igg/igm/iga monoclonal gammopathy GARD:20415 MONDO:equivalentTo Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy -MONDO:0864688 systemic inflammatory disease associated with an acquired peripheral neuropathy GARD:20416 MONDO:equivalentTo Systemic inflammatory disease associated with an acquired peripheral neuropathy -MONDO:0864689 peripheral neuropathy associated with monoclonal gammopathy GARD:20417 MONDO:equivalentTo Peripheral neuropathy associated with monoclonal gammopathy -MONDO:0864690 acquired amyloid peripheral neuropathy GARD:20418 MONDO:equivalentTo Acquired amyloid peripheral neuropathy -MONDO:0864691 hematological disease associated with an acquired peripheral neuropathy GARD:20419 MONDO:equivalentTo Hematological disease associated with an acquired peripheral neuropathy -MONDO:0864692 solid tumor associated with an acquired peripheral neuropathy GARD:20420 MONDO:equivalentTo Solid tumor associated with an acquired peripheral neuropathy -MONDO:0864693 qualitative or quantitative defects of protein o-mannose beta1,2n-acetylglucosaminyltransferase GARD:20421 MONDO:equivalentTo Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase -MONDO:0864694 qualitative or quantitative defects of protein glycosyltransferase-like GARD:20422 MONDO:equivalentTo Qualitative or quantitative defects of protein glycosyltransferase-like -MONDO:0864695 qualitative or quantitative defects of protein o-mannosyltransferase 1 GARD:20423 MONDO:equivalentTo Qualitative or quantitative defects of protein O-mannosyltransferase 1 -MONDO:0864696 qualitative or quantitative defects of protein o-mannosyltransferase 2 GARD:20424 MONDO:equivalentTo Qualitative or quantitative defects of protein O-mannosyltransferase 2 -MONDO:0864697 qualitative or quantitative defects of myofibrillar proteins GARD:20425 MONDO:equivalentTo Qualitative or quantitative defects of myofibrillar proteins -MONDO:0864698 qualitative or quantitative defects of desmin GARD:20426 MONDO:equivalentTo Qualitative or quantitative defects of desmin -MONDO:0864699 qualitative or quantitative defects of alphab-cristallin GARD:20427 MONDO:equivalentTo Qualitative or quantitative defects of alphaB-cristallin -MONDO:0864700 qualitative or quantitative defects of filamin c GARD:20428 MONDO:equivalentTo Qualitative or quantitative defects of filamin C -MONDO:0864701 qualitative or quantitative defects of protein zasp GARD:20429 MONDO:equivalentTo Qualitative or quantitative defects of protein ZASP -MONDO:0864702 qualitative or quantitative defects of titin GARD:20430 MONDO:equivalentTo Qualitative or quantitative defects of titin -MONDO:0864703 qualitative or quantitative defects of telethonin GARD:20431 MONDO:equivalentTo Qualitative or quantitative defects of telethonin -MONDO:0864704 qualitative or quantitative defects of alpha-actin GARD:20432 MONDO:equivalentTo Qualitative or quantitative defects of alpha-actin -MONDO:0864705 qualitative or quantitative defects of nebulin GARD:20433 MONDO:equivalentTo Qualitative or quantitative defects of nebulin -MONDO:0864706 qualitative or quantitative defects of beta-myosin heavy chain (myh7) GARD:20434 MONDO:equivalentTo Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) -MONDO:0864707 qualitative or quantitative defects of emerin GARD:20435 MONDO:equivalentTo Qualitative or quantitative defects of emerin -MONDO:0864708 qualitative or quantitative defects of selenoprotein n1 GARD:20436 MONDO:equivalentTo Qualitative or quantitative defects of selenoprotein N1 -MONDO:0864709 qualitative or quantitative defects of plectin GARD:20437 MONDO:equivalentTo Qualitative or quantitative defects of plectin -MONDO:0864710 qualitative or quantitative defects of protein serca1 GARD:20438 MONDO:equivalentTo Qualitative or quantitative defects of protein SERCA1 -MONDO:0864711 qualitative or quantitative defects of glucosamine (udp-n-acetyl)-2-epimerase/n-acetylmannosamine kinase - GARD:20439 MONDO:equivalentTo Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - -MONDO:0864712 leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome GARD:2044 MONDO:equivalentTo Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome -MONDO:0864713 myotilinopathy GARD:20440 MONDO:equivalentTo Myotilinopathy -MONDO:0864714 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency GARD:20441 MONDO:equivalentTo Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency -MONDO:0864715 idiopathic uveal effusion syndrome GARD:20442 MONDO:equivalentTo Idiopathic uveal effusion syndrome -MONDO:0864716 phacoanaphylactic uveitis GARD:20443 MONDO:equivalentTo Phacoanaphylactic uveitis -MONDO:0864717 solitary rectal ulcer syndrome GARD:20444 MONDO:equivalentTo Solitary rectal ulcer syndrome -MONDO:0864718 benign nocturnal alternating hemiplegia of childhood GARD:20445 MONDO:equivalentTo Benign nocturnal alternating hemiplegia of childhood -MONDO:0864719 alternating hemiplegia GARD:20446 MONDO:equivalentTo Alternating hemiplegia -MONDO:0864720 non-papillary transitional cell carcinoma of the bladder GARD:20447 MONDO:equivalentTo Non-papillary transitional cell carcinoma of the bladder -MONDO:0864721 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome GARD:20448 MONDO:equivalentTo Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome -MONDO:0864722 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome GARD:20449 MONDO:equivalentTo Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome -MONDO:0864723 ectodermal dysplasia-blindness syndrome GARD:2045 MONDO:equivalentTo Ectodermal dysplasia-blindness syndrome -MONDO:0864724 congenital temporomandibular joint ankylosis GARD:20450 MONDO:equivalentTo Congenital temporomandibular joint ankylosis -MONDO:0864725 temporomandibular joint anomaly GARD:20451 MONDO:equivalentTo Temporomandibular joint anomaly -MONDO:0864726 spindle cell hemangioma GARD:20452 MONDO:equivalentTo Spindle cell hemangioma -MONDO:0864727 infantile hemangioma of rare localization GARD:20453 MONDO:equivalentTo Infantile hemangioma of rare localization -MONDO:0864728 autosomal dominant proximal spinal muscular atrophy GARD:20454 MONDO:equivalentTo Autosomal dominant proximal spinal muscular atrophy -MONDO:0864729 specific learning disability GARD:20455 MONDO:equivalentTo Specific learning disability -MONDO:0864730 specific language disorder GARD:20456 MONDO:equivalentTo Specific language disorder -MONDO:0864731 hereditary episodic ataxia GARD:20457 MONDO:equivalentTo Hereditary episodic ataxia -MONDO:0864732 rare vascular tumor GARD:20458 MONDO:equivalentTo Rare vascular tumor -MONDO:0864733 genetic vascular anomaly GARD:20459 MONDO:equivalentTo Genetic vascular anomaly -MONDO:0864734 simple vascular malformation GARD:20460 MONDO:equivalentTo Simple vascular malformation -MONDO:0864735 rare capillary malformation GARD:20461 MONDO:equivalentTo Rare capillary malformation -MONDO:0864736 rare venous malformation GARD:20462 MONDO:equivalentTo Rare venous malformation -MONDO:0864737 rare lymphatic system anomaly GARD:20463 MONDO:equivalentTo Rare lymphatic system anomaly -MONDO:0864738 rare arteriovenous malformation GARD:20464 MONDO:equivalentTo Rare arteriovenous malformation -MONDO:0864739 complex vascular malformation with associated anomalies GARD:20465 MONDO:equivalentTo Complex vascular malformation with associated anomalies -MONDO:0864740 adenocarcinoma of ovary GARD:20466 MONDO:equivalentTo Adenocarcinoma of ovary -MONDO:0864741 familial ovarian cancer GARD:20467 MONDO:equivalentTo Familial ovarian cancer -MONDO:0864742 hereditary site-specific ovarian cancer syndrome GARD:20468 MONDO:equivalentTo Hereditary site-specific ovarian cancer syndrome -MONDO:0864743 rare uterine cancer GARD:20469 MONDO:equivalentTo Rare uterine cancer -MONDO:0864744 rare cancer of corpus uteri GARD:20470 MONDO:equivalentTo Rare cancer of corpus uteri -MONDO:0864745 rare variants of adenocarcinoma of the corpus uteri GARD:20471 MONDO:equivalentTo Rare variants of adenocarcinoma of the corpus uteri -MONDO:0864746 malignant mixed epithelial and mesenchymal tumor of corpus uteri GARD:20472 MONDO:equivalentTo Malignant mixed epithelial and mesenchymal tumor of corpus uteri -MONDO:0864747 adenosarcoma of the corpus uteri GARD:20473 MONDO:equivalentTo Adenosarcoma of the corpus uteri -MONDO:0864748 carcinofibroma of the corpus uteri GARD:20474 MONDO:equivalentTo Carcinofibroma of the corpus uteri -MONDO:0864749 rhabdomyosarcoma of the corpus uteri GARD:20475 MONDO:equivalentTo Rhabdomyosarcoma of the corpus uteri -MONDO:0864750 sarcoma of the corpus uteri GARD:20476 MONDO:equivalentTo Sarcoma of the corpus uteri -MONDO:0864751 leiomyosarcoma of the corpus uteri GARD:20477 MONDO:equivalentTo Leiomyosarcoma of the corpus uteri -MONDO:0864752 primitive neuroectodermal tumor of the corpus uteri GARD:20478 MONDO:equivalentTo Primitive neuroectodermal tumor of the corpus uteri -MONDO:0864753 squamous cell carcinoma of the corpus uteri GARD:20479 MONDO:equivalentTo Squamous cell carcinoma of the corpus uteri -MONDO:0864754 autosomal dominant hypohidrotic ectodermal dysplasia GARD:2048 MONDO:equivalentTo Autosomal dominant hypohidrotic ectodermal dysplasia -MONDO:0864755 undifferentiated carcinoma of the corpus uteri GARD:20480 MONDO:equivalentTo Undifferentiated carcinoma of the corpus uteri -MONDO:0864756 serous carcinoma of the corpus uteri GARD:20481 MONDO:equivalentTo Serous carcinoma of the corpus uteri -MONDO:0864757 high-grade neuroendocrine carcinoma of the corpus uteri GARD:20482 MONDO:equivalentTo High-grade neuroendocrine carcinoma of the corpus uteri -MONDO:0864758 low-grade neuroendocrine tumor of the corpus uteri GARD:20483 MONDO:equivalentTo Low-grade neuroendocrine tumor of the corpus uteri -MONDO:0864759 transitional cell carcinoma of the corpus uteri GARD:20484 MONDO:equivalentTo Transitional cell carcinoma of the corpus uteri -MONDO:0864760 malignant germ cell tumor of the corpus uteri GARD:20485 MONDO:equivalentTo Malignant germ cell tumor of the corpus uteri -MONDO:0864761 rare cancer of cervix uteri GARD:20486 MONDO:equivalentTo Rare cancer of cervix uteri -MONDO:0864762 squamous cell carcinoma of the cervix uteri GARD:20487 MONDO:equivalentTo Squamous cell carcinoma of the cervix uteri -MONDO:0864763 adenocarcinoma of the cervix uteri GARD:20488 MONDO:equivalentTo Adenocarcinoma of the cervix uteri -MONDO:0864764 high-grade neuroendocrine carcinoma of the cervix uteri GARD:20489 MONDO:equivalentTo High-grade neuroendocrine carcinoma of the cervix uteri -MONDO:0864765 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome GARD:2049 MONDO:equivalentTo Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome -MONDO:0864766 malignant mixed epithelial and mesenchymal tumor of cervix uteri GARD:20490 MONDO:equivalentTo Malignant mixed epithelial and mesenchymal tumor of cervix uteri -MONDO:0864767 carcinosarcoma of the cervix uteri GARD:20491 MONDO:equivalentTo Carcinosarcoma of the cervix uteri -MONDO:0864768 adenosarcoma of the cervix uteri GARD:20492 MONDO:equivalentTo Adenosarcoma of the cervix uteri -MONDO:0864769 sarcoma of cervix uteri GARD:20493 MONDO:equivalentTo Sarcoma of cervix uteri -MONDO:0864770 rhabdomyosarcoma of the cervix uteri GARD:20494 MONDO:equivalentTo Rhabdomyosarcoma of the cervix uteri -MONDO:0864771 leiomyosarcoma of the cervix uteri GARD:20495 MONDO:equivalentTo Leiomyosarcoma of the cervix uteri -MONDO:0864772 primitive neuroectodermal tumor of the cervix uteri GARD:20496 MONDO:equivalentTo Primitive neuroectodermal tumor of the cervix uteri -MONDO:0864773 papillary carcinoma of the cervix uteri GARD:20497 MONDO:equivalentTo Papillary carcinoma of the cervix uteri -MONDO:0864774 adenoid cystic carcinoma of the cervix uteri GARD:20498 MONDO:equivalentTo Adenoid cystic carcinoma of the cervix uteri -MONDO:0864775 adenoid basal carcinoma of the cervix uteri GARD:20499 MONDO:equivalentTo Adenoid basal carcinoma of the cervix uteri -MONDO:0864776 glassy cell carcinoma of the cervix uteri GARD:20500 MONDO:equivalentTo Glassy cell carcinoma of the cervix uteri -MONDO:0864777 malignant germ cell tumor of the cervix uteri GARD:20501 MONDO:equivalentTo Malignant germ cell tumor of the cervix uteri -MONDO:0864778 isolated congenitally uncorrected transposition of the great arteries GARD:20502 MONDO:equivalentTo Isolated congenitally uncorrected transposition of the great arteries -MONDO:0864779 congenitally uncorrected transposition of the great arteries with cardiac malformation GARD:20503 MONDO:equivalentTo Congenitally uncorrected transposition of the great arteries with cardiac malformation -MONDO:0864780 niemann-pick disease type c, severe perinatal form GARD:20504 MONDO:equivalentTo Niemann-Pick disease type C, severe perinatal form -MONDO:0864781 niemann-pick disease type c, severe early infantile neurologic onset GARD:20505 MONDO:equivalentTo Niemann-Pick disease type C, severe early infantile neurologic onset -MONDO:0864782 niemann-pick disease type c, late infantile neurologic onset GARD:20506 MONDO:equivalentTo Niemann-Pick disease type C, late infantile neurologic onset -MONDO:0864783 niemann-pick disease type c, juvenile neurologic onset GARD:20507 MONDO:equivalentTo Niemann-Pick disease type C, juvenile neurologic onset -MONDO:0864784 niemann-pick disease type c, adult neurologic onset GARD:20508 MONDO:equivalentTo Niemann-Pick disease type C, adult neurologic onset -MONDO:0864785 5-fluorouracil poisoning GARD:20509 MONDO:equivalentTo 5-fluorouracil poisoning -MONDO:0864786 pouchitis GARD:20510 MONDO:equivalentTo Pouchitis -MONDO:0864787 rare carcinoma of pancreas GARD:20511 MONDO:equivalentTo Rare carcinoma of pancreas -MONDO:0864788 pulmonary fungal infections in patients deemed at risk GARD:20512 MONDO:equivalentTo Pulmonary fungal infections in patients deemed at risk -MONDO:0864789 nmda receptor encephalitis GARD:20513 MONDO:equivalentTo NMDA receptor encephalitis -MONDO:0864790 congenital insensitivity to pain-hyperhidrosis-absence of c-fiber innervation GARD:20514 MONDO:equivalentTo Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation -MONDO:0864791 rare hereditary thrombophilia GARD:20515 MONDO:equivalentTo Rare hereditary thrombophilia -MONDO:0864792 pulmonary interstitial glycogenosis GARD:20516 MONDO:equivalentTo Pulmonary interstitial glycogenosis -MONDO:0864793 neuroendocrine cell hyperplasia of infancy GARD:20517 MONDO:equivalentTo Neuroendocrine cell hyperplasia of infancy -MONDO:0864794 rare hypertrophic cardiomyopathy GARD:20518 MONDO:equivalentTo Rare hypertrophic cardiomyopathy -MONDO:0864795 glycogen storage disease with hypertrophic cardiomyopathy GARD:20519 MONDO:equivalentTo Glycogen storage disease with hypertrophic cardiomyopathy -MONDO:0864796 lysosomal disease with hypertrophic cardiomyopathy GARD:20520 MONDO:equivalentTo Lysosomal disease with hypertrophic cardiomyopathy -MONDO:0864797 mitochondrial disease with hypertrophic cardiomyopathy GARD:20521 MONDO:equivalentTo Mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0864798 fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy GARD:20522 MONDO:equivalentTo Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy -MONDO:0864799 syndrome associated with hypertrophic cardiomyopathy GARD:20523 MONDO:equivalentTo Syndrome associated with hypertrophic cardiomyopathy -MONDO:0864800 non-familial hypertrophic cardiomyopathy GARD:20524 MONDO:equivalentTo Non-familial hypertrophic cardiomyopathy -MONDO:0864801 familial dilated cardiomyopathy GARD:20525 MONDO:equivalentTo Familial dilated cardiomyopathy -MONDO:0864802 neuromuscular disease with dilated cardiomyopathy GARD:20526 MONDO:equivalentTo Neuromuscular disease with dilated cardiomyopathy -MONDO:0864803 mitochondrial disease with dilated cardiomyopathy GARD:20527 MONDO:equivalentTo Mitochondrial disease with dilated cardiomyopathy -MONDO:0864804 fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy GARD:20528 MONDO:equivalentTo Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy -MONDO:0864805 syndrome associated with dilated cardiomyopathy GARD:20529 MONDO:equivalentTo Syndrome associated with dilated cardiomyopathy -MONDO:0864806 non-familial dilated cardiomyopathy GARD:20530 MONDO:equivalentTo Non-familial dilated cardiomyopathy -MONDO:0864807 restrictive cardiomyopathy GARD:20531 MONDO:equivalentTo Restrictive cardiomyopathy -MONDO:0864808 familial restrictive cardiomyopathy GARD:20532 MONDO:equivalentTo Familial restrictive cardiomyopathy -MONDO:0864809 lysosomal disease with restrictive cardiomyopathy GARD:20533 MONDO:equivalentTo Lysosomal disease with restrictive cardiomyopathy -MONDO:0864810 unclassified cardiomyopathy GARD:20534 MONDO:equivalentTo Unclassified cardiomyopathy -MONDO:0864811 non-familial restrictive cardiomyopathy GARD:20535 MONDO:equivalentTo Non-familial restrictive cardiomyopathy -MONDO:0864812 rare cardiac rhythm disease GARD:20536 MONDO:equivalentTo Rare cardiac rhythm disease -MONDO:0864813 non-genetic cardiac rhythm disease GARD:20537 MONDO:equivalentTo Non-genetic cardiac rhythm disease -MONDO:0864814 macrothrombocytopenia with mitral valve insufficiency GARD:20538 MONDO:equivalentTo Macrothrombocytopenia with mitral valve insufficiency -MONDO:0864815 isolated hereditary giant platelet disorder GARD:20539 MONDO:equivalentTo Isolated hereditary giant platelet disorder -MONDO:0864816 rare hereditary hemochromatosis GARD:20540 MONDO:equivalentTo Rare hereditary hemochromatosis -MONDO:0864817 combined hyperactive dysfunction syndrome of the cranial nerves GARD:20541 MONDO:equivalentTo Combined hyperactive dysfunction syndrome of the cranial nerves -MONDO:0864818 cranial neuralgia GARD:20542 MONDO:equivalentTo Cranial neuralgia -MONDO:0864819 acquired peripheral movement disorder GARD:20543 MONDO:equivalentTo Acquired peripheral movement disorder -MONDO:0864820 confetti-like macular atrophy GARD:20544 MONDO:equivalentTo Confetti-like macular atrophy -MONDO:0864821 hereditary poikiloderma GARD:20545 MONDO:equivalentTo Hereditary poikiloderma -MONDO:0864822 mitochondrial oxidative phosphorylation disorder GARD:20546 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder -MONDO:0864823 bone sarcoma GARD:20547 MONDO:equivalentTo Bone sarcoma -MONDO:0864824 lymphoma GARD:20548 MONDO:equivalentTo Lymphoma -MONDO:0864825 sporadic infantile bilateral striatal necrosis GARD:20549 MONDO:equivalentTo Sporadic infantile bilateral striatal necrosis -MONDO:0864826 ectodermal dysplasia, trichoodontoonychial type GARD:2055 MONDO:equivalentTo Ectodermal dysplasia, trichoodontoonychial type -MONDO:0864827 lysosomal disease with epilepsy GARD:20550 MONDO:equivalentTo Lysosomal disease with epilepsy -MONDO:0864828 peroxisomal disease with epilepsy GARD:20551 MONDO:equivalentTo Peroxisomal disease with epilepsy -MONDO:0864829 amino acid or protein metabolism disease with epilepsy GARD:20552 MONDO:equivalentTo Amino acid or protein metabolism disease with epilepsy -MONDO:0864830 metal transport or utilization disorder with epilepsy GARD:20553 MONDO:equivalentTo Metal transport or utilization disorder with epilepsy -MONDO:0864831 energy metabolism disorder with epilepsy GARD:20554 MONDO:equivalentTo Energy metabolism disorder with epilepsy -MONDO:0864832 mitochondrial disease with epilepsy GARD:20555 MONDO:equivalentTo Mitochondrial disease with epilepsy -MONDO:0864833 mitochondrial disease with peripheral neuropathy GARD:20556 MONDO:equivalentTo Mitochondrial disease with peripheral neuropathy -MONDO:0864834 metabolic neurotransmission anomaly with epilepsy GARD:20557 MONDO:equivalentTo Metabolic neurotransmission anomaly with epilepsy -MONDO:0864835 sterol metabolism disorder with epilepsy GARD:20558 MONDO:equivalentTo Sterol metabolism disorder with epilepsy -MONDO:0864836 other metabolic disease with epilepsy GARD:20559 MONDO:equivalentTo Other metabolic disease with epilepsy -MONDO:0864837 hidrotic ectodermal dysplasia GARD:2056 MONDO:equivalentTo Hidrotic ectodermal dysplasia -MONDO:0864838 permanent congenital hypothyroidism GARD:20560 MONDO:equivalentTo Permanent congenital hypothyroidism -MONDO:0864839 primary congenital hypothyroidism GARD:20561 MONDO:equivalentTo Primary congenital hypothyroidism -MONDO:0864840 hypothyroidism due to deficient transcription factors involved in pituitary development or function GARD:20562 MONDO:equivalentTo Hypothyroidism due to deficient transcription factors involved in pituitary development or function -MONDO:0864841 congenital hypothyroidism due to maternal intake of antithyroid drugs GARD:20563 MONDO:equivalentTo Congenital hypothyroidism due to maternal intake of antithyroid drugs -MONDO:0864842 genetic transient congenital hypothyroidism GARD:20564 MONDO:equivalentTo Genetic transient congenital hypothyroidism -MONDO:0864843 multiple system atrophy, cerebellar type GARD:20565 MONDO:equivalentTo Multiple system atrophy, cerebellar type -MONDO:0864844 toxic oil syndrome GARD:20566 MONDO:equivalentTo Toxic oil syndrome -MONDO:0864845 autoimmune polyendocrinopathy type 4 GARD:20567 MONDO:equivalentTo Autoimmune polyendocrinopathy type 4 -MONDO:0864846 anal fistula GARD:20568 MONDO:equivalentTo Anal fistula -MONDO:0864847 hughes-stovin syndrome GARD:20569 MONDO:equivalentTo Hughes-Stovin syndrome -MONDO:0864848 autosomal recessive hypohidrotic ectodermal dysplasia GARD:2057 MONDO:equivalentTo Autosomal recessive hypohidrotic ectodermal dysplasia -MONDO:0864849 fusariosis GARD:20570 MONDO:equivalentTo Fusariosis -MONDO:0864850 multiple sclerosis variant GARD:20571 MONDO:equivalentTo Multiple sclerosis variant -MONDO:0864851 marburg acute multiple sclerosis GARD:20572 MONDO:equivalentTo Marburg acute multiple sclerosis -MONDO:0864852 heart-hand syndrome GARD:20573 MONDO:equivalentTo Heart-hand syndrome -MONDO:0864853 genetic dermis elastic tissue disorder GARD:20574 MONDO:equivalentTo Genetic dermis elastic tissue disorder -MONDO:0864854 acquired dermis elastic tissue disorder GARD:20575 MONDO:equivalentTo Acquired dermis elastic tissue disorder -MONDO:0864855 acquired dermis elastic tissue disorder with decreased elastic tissue GARD:20576 MONDO:equivalentTo Acquired dermis elastic tissue disorder with decreased elastic tissue -MONDO:0864856 acquired dermis elastic tissue disorder with increased elastic tissue GARD:20577 MONDO:equivalentTo Acquired dermis elastic tissue disorder with increased elastic tissue -MONDO:0864857 late-onset focal dermal elastosis GARD:20578 MONDO:equivalentTo Late-onset focal dermal elastosis -MONDO:0864858 linear focal elastosis GARD:20579 MONDO:equivalentTo Linear focal elastosis -MONDO:0864859 elastofibroma dorsi GARD:20580 MONDO:equivalentTo Elastofibroma dorsi -MONDO:0864860 acquired pseudoxanthoma elasticum GARD:20581 MONDO:equivalentTo Acquired pseudoxanthoma elasticum -MONDO:0864861 elastoma GARD:20582 MONDO:equivalentTo Elastoma -MONDO:0864862 papular elastorrhexis GARD:20583 MONDO:equivalentTo Papular elastorrhexis -MONDO:0864863 primary anetoderma GARD:20584 MONDO:equivalentTo Primary anetoderma -MONDO:0864864 familial anetoderma GARD:20585 MONDO:equivalentTo Familial anetoderma -MONDO:0864865 acquired cutis laxa GARD:20586 MONDO:equivalentTo Acquired cutis laxa -MONDO:0864866 white fibrous papulosis of the neck GARD:20587 MONDO:equivalentTo White fibrous papulosis of the neck -MONDO:0864867 pseudoxanthoma elasticum-like papillary dermal elastolysis GARD:20588 MONDO:equivalentTo Pseudoxanthoma elasticum-like papillary dermal elastolysis -MONDO:0864868 mid-dermal elastolysis GARD:20589 MONDO:equivalentTo Mid-dermal elastolysis -MONDO:0864869 autoimmune hemolytic anemia, cold type GARD:20590 MONDO:equivalentTo Autoimmune hemolytic anemia, cold type -MONDO:0864870 foodborne botulism GARD:20591 MONDO:equivalentTo Foodborne botulism -MONDO:0864871 virus-associated trichodysplasia spinulosa GARD:20592 MONDO:equivalentTo Virus-associated trichodysplasia spinulosa -MONDO:0864872 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome GARD:20593 MONDO:equivalentTo Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome -MONDO:0864873 polyvalvular heart disease syndrome GARD:20594 MONDO:equivalentTo Polyvalvular heart disease syndrome -MONDO:0864874 5q35 microduplication syndrome GARD:20595 MONDO:equivalentTo 5q35 microduplication syndrome -MONDO:0864875 syndromic agammaglobulinemia GARD:20596 MONDO:equivalentTo Syndromic agammaglobulinemia -MONDO:0864876 toxin-mediated infectious botulism GARD:20597 MONDO:equivalentTo Toxin-mediated infectious botulism -MONDO:0864877 high-grade dysplasia in patients with barrett esophagus GARD:20598 MONDO:equivalentTo High-grade dysplasia in patients with Barrett esophagus -MONDO:0864878 drug-induced lupus erythematosus GARD:20599 MONDO:equivalentTo Drug-induced lupus erythematosus -MONDO:0864879 nephronophthisis GARD:206 MONDO:equivalentTo Nephronophthisis -MONDO:0864880 beckwith-wiedemann syndrome due to imprinting defect of 11p15 GARD:20600 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 -MONDO:0864881 beckwith-wiedemann syndrome due to 11p15 microdeletion GARD:20601 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to 11p15 microdeletion -MONDO:0864882 beckwith-wiedemann syndrome due to 11p15 translocation/inversion GARD:20602 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion -MONDO:0864883 silver-russell syndrome due to 7p11.2p13 microduplication GARD:20603 MONDO:equivalentTo Silver-Russell syndrome due to 7p11.2p13 microduplication -MONDO:0864884 silver-russell syndrome due to an imprinting defect of 11p15 GARD:20604 MONDO:equivalentTo Silver-Russell syndrome due to an imprinting defect of 11p15 -MONDO:0864885 silver-russell syndrome due to 11p15 microduplication GARD:20605 MONDO:equivalentTo Silver-Russell syndrome due to 11p15 microduplication -MONDO:0864886 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 GARD:20606 MONDO:equivalentTo Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 -MONDO:0864887 beta-thalassemia associated with another hemoglobin anomaly GARD:20607 MONDO:equivalentTo Beta-thalassemia associated with another hemoglobin anomaly -MONDO:0864888 hemoglobin c-beta-thalassemia syndrome GARD:20608 MONDO:equivalentTo Hemoglobin C-beta-thalassemia syndrome -MONDO:0864889 hemoglobin e-beta-thalassemia syndrome GARD:20609 MONDO:equivalentTo Hemoglobin E-beta-thalassemia syndrome -MONDO:0864890 beta-thalassemia with other manifestations GARD:20610 MONDO:equivalentTo Beta-thalassemia with other manifestations -MONDO:0864891 variant of guillain-barré syndrome GARD:20611 MONDO:equivalentTo Variant of Guillain-Barré syndrome -MONDO:0864892 regional variant of guillain-barré syndrome GARD:20612 MONDO:equivalentTo Regional variant of Guillain-Barré syndrome -MONDO:0864893 functional variant of guillain-barré syndrome GARD:20613 MONDO:equivalentTo Functional variant of Guillain-Barré syndrome -MONDO:0864894 pharyngeal-cervical-brachial variant of guillain-barré syndrome GARD:20614 MONDO:equivalentTo Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome -MONDO:0864895 paraparetic variant of guillain-barré syndrome GARD:20615 MONDO:equivalentTo Paraparetic variant of Guillain-Barré syndrome -MONDO:0864896 acute pure sensory neuropathy GARD:20616 MONDO:equivalentTo Acute pure sensory neuropathy -MONDO:0864897 acute pandysautonomia GARD:20617 MONDO:equivalentTo Acute pandysautonomia -MONDO:0864898 acute sensory ataxic neuropathy GARD:20618 MONDO:equivalentTo Acute sensory ataxic neuropathy -MONDO:0864899 congenital erosive and vesicular dermatosis GARD:20619 MONDO:equivalentTo Congenital erosive and vesicular dermatosis -MONDO:0864900 primary unilateral adrenal hyperplasia GARD:20620 MONDO:equivalentTo Primary unilateral adrenal hyperplasia -MONDO:0864901 adrenocortical carcinoma with pure aldosterone hypersecretion GARD:20621 MONDO:equivalentTo Adrenocortical carcinoma with pure aldosterone hypersecretion -MONDO:0864902 ectopic aldosterone-producing tumor GARD:20622 MONDO:equivalentTo Ectopic aldosterone-producing tumor -MONDO:0864903 rare surgically correctable form of primary aldosteronism GARD:20623 MONDO:equivalentTo Rare surgically correctable form of primary aldosteronism -MONDO:0864904 rare non surgically correctable form of primary aldosteronism GARD:20624 MONDO:equivalentTo Rare non surgically correctable form of primary aldosteronism -MONDO:0864905 epibulbar lipodermoid-preauricular appendage-polythelia syndrome GARD:20625 MONDO:equivalentTo Epibulbar lipodermoid-preauricular appendage-polythelia syndrome -MONDO:0864906 infectious embryofetopathy GARD:20626 MONDO:equivalentTo Infectious embryofetopathy -MONDO:0864907 syndrome with alpha-thalassemia as a major feature GARD:20627 MONDO:equivalentTo Syndrome with alpha-thalassemia as a major feature -MONDO:0864908 rare genetic vascular disease GARD:20628 MONDO:equivalentTo Rare genetic vascular disease -MONDO:0864909 congenital vascular bone syndrome GARD:20629 MONDO:equivalentTo Congenital vascular bone syndrome -MONDO:0864910 familial hyperaldosteronism GARD:20630 MONDO:equivalentTo Familial hyperaldosteronism -MONDO:0864911 aapoaii amyloidosis GARD:20631 MONDO:equivalentTo AApoAII amyloidosis -MONDO:0864912 infundibulo-neurohypophysitis GARD:20632 MONDO:equivalentTo Infundibulo-neurohypophysitis -MONDO:0864913 lymphoproliferative syndrome GARD:20633 MONDO:equivalentTo Lymphoproliferative syndrome -MONDO:0864914 hypotonia-cystinuria type 1 syndrome GARD:20634 MONDO:equivalentTo Hypotonia-cystinuria type 1 syndrome -MONDO:0864915 congenital secondary polycythemia GARD:20635 MONDO:equivalentTo Congenital secondary polycythemia -MONDO:0864916 acquired secondary polycythemia GARD:20636 MONDO:equivalentTo Acquired secondary polycythemia -MONDO:0864917 ileal pouch anal anastomosis related faecal incontinence GARD:20637 MONDO:equivalentTo Ileal pouch anal anastomosis related faecal incontinence -MONDO:0864918 megacystis-megaureter syndrome GARD:20638 MONDO:equivalentTo Megacystis-megaureter syndrome -MONDO:0864919 primary megaureter, adult-onset form GARD:20639 MONDO:equivalentTo Primary megaureter, adult-onset form -MONDO:0864920 congenital primary megaureter, obstructed form GARD:20640 MONDO:equivalentTo Congenital primary megaureter, obstructed form -MONDO:0864921 congenital primary megaureter, refluxing form GARD:20641 MONDO:equivalentTo Congenital primary megaureter, refluxing form -MONDO:0864922 congenital primary megaureter, nonrefluxing and unobstructed form GARD:20642 MONDO:equivalentTo Congenital primary megaureter, nonrefluxing and unobstructed form -MONDO:0864923 isolated congenital hypogonadotropic hypogonadism GARD:20643 MONDO:equivalentTo Isolated congenital hypogonadotropic hypogonadism -MONDO:0864924 neonatal iodine exposure GARD:20644 MONDO:equivalentTo Neonatal iodine exposure -MONDO:0864925 transient congenital hypothyroidism due to maternal factor GARD:20645 MONDO:equivalentTo Transient congenital hypothyroidism due to maternal factor -MONDO:0864926 transient congenital hypothyroidism due to neonatal factor GARD:20646 MONDO:equivalentTo Transient congenital hypothyroidism due to neonatal factor -MONDO:0864927 progressive supranuclear palsy-pure akinesia with gait freezing syndrome GARD:20647 MONDO:equivalentTo Progressive supranuclear palsy-pure akinesia with gait freezing syndrome -MONDO:0864928 progressive supranuclear palsy-corticobasal syndrome GARD:20648 MONDO:equivalentTo Progressive supranuclear palsy-corticobasal syndrome -MONDO:0864929 progressive supranuclear palsy-progressive non-fluent aphasia syndrome GARD:20649 MONDO:equivalentTo Progressive supranuclear palsy-progressive non-fluent aphasia syndrome -MONDO:0864930 syndromic obesity GARD:20650 MONDO:equivalentTo Syndromic obesity -MONDO:0864931 de novo thrombotic microangiopathy after kidney transplantation GARD:20651 MONDO:equivalentTo De novo thrombotic microangiopathy after kidney transplantation -MONDO:0864932 biliary atresia with splenic malformation syndrome GARD:20652 MONDO:equivalentTo Biliary atresia with splenic malformation syndrome -MONDO:0864933 infantile mercury poisoning GARD:20653 MONDO:equivalentTo Infantile mercury poisoning -MONDO:0864934 sporadic adult-onset ataxia of unknown etiology GARD:20654 MONDO:equivalentTo Sporadic adult-onset ataxia of unknown etiology -MONDO:0864935 non-hereditary degenerative ataxia GARD:20655 MONDO:equivalentTo Non-hereditary degenerative ataxia -MONDO:0864936 acquired ataxia GARD:20656 MONDO:equivalentTo Acquired ataxia -MONDO:0864937 inhalational anthrax GARD:20657 MONDO:equivalentTo Inhalational anthrax -MONDO:0864938 autosomal recessive secondary polycythemia not associated with vhl gene GARD:20658 MONDO:equivalentTo Autosomal recessive secondary polycythemia not associated with VHL gene -MONDO:0864939 acute neonatal citrullinemia type i GARD:20659 MONDO:equivalentTo Acute neonatal citrullinemia type I -MONDO:0864940 adult-onset citrullinemia type i GARD:20660 MONDO:equivalentTo Adult-onset citrullinemia type I -MONDO:0864941 citrin deficiency GARD:20661 MONDO:equivalentTo Citrin deficiency -MONDO:0864942 prenatal benign hypophosphatasia GARD:20662 MONDO:equivalentTo Prenatal benign hypophosphatasia -MONDO:0864943 inflammatory myopathy with abundant macrophages GARD:20663 MONDO:equivalentTo Inflammatory myopathy with abundant macrophages -MONDO:0864944 idiopathic eosinophilic myositis GARD:20664 MONDO:equivalentTo Idiopathic eosinophilic myositis -MONDO:0864945 x-linked cerebellar ataxia GARD:20665 MONDO:equivalentTo X-linked cerebellar ataxia -MONDO:0864946 autosomal recessive ataxia due to pex10 deficiency GARD:20666 MONDO:equivalentTo Autosomal recessive ataxia due to PEX10 deficiency -MONDO:0864947 primary hypertrophic osteoarthropathy GARD:20667 MONDO:equivalentTo Primary hypertrophic osteoarthropathy -MONDO:0864948 rare deficiency anemia GARD:20668 MONDO:equivalentTo Rare deficiency anemia -MONDO:0864949 constitutional deficiency anemia GARD:20669 MONDO:equivalentTo Constitutional deficiency anemia -MONDO:0864950 rare acquired deficiency anemia GARD:20670 MONDO:equivalentTo Rare acquired deficiency anemia -MONDO:0864951 rare hemorrhagic disorder GARD:20671 MONDO:equivalentTo Rare hemorrhagic disorder -MONDO:0864952 rare hemorrhagic disorder due to a coagulation factors defect GARD:20672 MONDO:equivalentTo Rare hemorrhagic disorder due to a coagulation factors defect -MONDO:0864953 rare hemorrhagic disorder due to a platelet anomaly GARD:20673 MONDO:equivalentTo Rare hemorrhagic disorder due to a platelet anomaly -MONDO:0864954 isolated delta-storage pool disease GARD:20674 MONDO:equivalentTo Isolated delta-storage pool disease -MONDO:0864955 rare hemorrhagic disorder due to an acquired platelet anomaly GARD:20675 MONDO:equivalentTo Rare hemorrhagic disorder due to an acquired platelet anomaly -MONDO:0864956 rare thrombotic disorder due to a coagulation factors defect GARD:20676 MONDO:equivalentTo Rare thrombotic disorder due to a coagulation factors defect -MONDO:0864957 rare thrombotic disorder due to a constitutional coagulation factors defect GARD:20677 MONDO:equivalentTo Rare thrombotic disorder due to a constitutional coagulation factors defect -MONDO:0864958 rare thrombotic disorder due to an acquired coagulation factors defect GARD:20678 MONDO:equivalentTo Rare thrombotic disorder due to an acquired coagulation factors defect -MONDO:0864959 rare thrombotic disorder due to a platelet anomaly GARD:20679 MONDO:equivalentTo Rare thrombotic disorder due to a platelet anomaly -MONDO:0864960 ectrodactyly-polydactyly syndrome GARD:2068 MONDO:equivalentTo Ectrodactyly-polydactyly syndrome -MONDO:0864961 rare thrombotic disorder due to a constitutional platelet anomaly GARD:20680 MONDO:equivalentTo Rare thrombotic disorder due to a constitutional platelet anomaly -MONDO:0864962 rare thrombotic disorder due to an acquired platelet anomaly GARD:20681 MONDO:equivalentTo Rare thrombotic disorder due to an acquired platelet anomaly -MONDO:0864963 genetic polycythemia GARD:20682 MONDO:equivalentTo Genetic polycythemia -MONDO:0864964 serpinopathy GARD:20683 MONDO:equivalentTo Serpinopathy -MONDO:0864965 serpinopathy with toxic serpin polymerization GARD:20684 MONDO:equivalentTo Serpinopathy with toxic serpin polymerization -MONDO:0864966 serpinopathy with loss of serpin function GARD:20685 MONDO:equivalentTo Serpinopathy with loss of serpin function -MONDO:0864967 autosomal dominant optic atrophy and peripheral neuropathy GARD:20686 MONDO:equivalentTo Autosomal dominant optic atrophy and peripheral neuropathy -MONDO:0864968 polymicrogyria with optic nerve hypoplasia GARD:20687 MONDO:equivalentTo Polymicrogyria with optic nerve hypoplasia -MONDO:0864969 paternal uniparental disomy of chromosome 1 GARD:20688 MONDO:equivalentTo Paternal uniparental disomy of chromosome 1 -MONDO:0864970 maternal uniparental disomy of chromosome 1 GARD:20689 MONDO:equivalentTo Maternal uniparental disomy of chromosome 1 -MONDO:0864971 2q31.1 microdeletion syndrome GARD:20690 MONDO:equivalentTo 2q31.1 microdeletion syndrome -MONDO:0864972 6p22 microdeletion syndrome GARD:20691 MONDO:equivalentTo 6p22 microdeletion syndrome -MONDO:0864973 7q31 microdeletion syndrome GARD:20692 MONDO:equivalentTo 7q31 microdeletion syndrome -MONDO:0864974 8p11.2 deletion syndrome GARD:20693 MONDO:equivalentTo 8p11.2 deletion syndrome -MONDO:0864975 infantile onset panniculitis with uveitis and systemic granulomatosis GARD:20694 MONDO:equivalentTo Infantile onset panniculitis with uveitis and systemic granulomatosis -MONDO:0864976 idiopathic recurrent pericarditis GARD:20695 MONDO:equivalentTo Idiopathic recurrent pericarditis -MONDO:0864977 overlapping connective tissue disease GARD:20696 MONDO:equivalentTo Overlapping connective tissue disease -MONDO:0864978 drug-induced vasculitis GARD:20697 MONDO:equivalentTo Drug-induced vasculitis -MONDO:0864979 unclassified vasculitis GARD:20698 MONDO:equivalentTo Unclassified vasculitis -MONDO:0864980 unexplained long-lasting fever/inflammatory syndrome GARD:20699 MONDO:equivalentTo Unexplained long-lasting fever/inflammatory syndrome -MONDO:0864981 alveolar echinococcosis GARD:207 MONDO:equivalentTo Alveolar echinococcosis -MONDO:0864982 sickle cell-hemoglobin e disease syndrome GARD:20700 MONDO:equivalentTo Sickle cell-hemoglobin E disease syndrome -MONDO:0864983 toxic or drug-related embryofetopathy GARD:20701 MONDO:equivalentTo Toxic or drug-related embryofetopathy -MONDO:0864984 maternal disease-related embryofetopathy GARD:20702 MONDO:equivalentTo Maternal disease-related embryofetopathy -MONDO:0864985 rare tumor of neuroepithelial tissue GARD:20703 MONDO:equivalentTo Rare tumor of neuroepithelial tissue -MONDO:0864986 high-grade astrocytoma GARD:20704 MONDO:equivalentTo High-grade astrocytoma -MONDO:0864987 giant cell glioblastoma GARD:20705 MONDO:equivalentTo Giant cell glioblastoma -MONDO:0864988 low-grade astrocytoma GARD:20706 MONDO:equivalentTo Low-grade astrocytoma -MONDO:0864989 protoplasmic astrocytoma GARD:20707 MONDO:equivalentTo Protoplasmic astrocytoma -MONDO:0864990 fibrillary astrocytoma GARD:20708 MONDO:equivalentTo Fibrillary astrocytoma -MONDO:0864991 gemistocytic astrocytoma GARD:20709 MONDO:equivalentTo Gemistocytic astrocytoma -MONDO:0864992 blepharo-cheilo-odontic syndrome GARD:2071 MONDO:equivalentTo Blepharo-cheilo-odontic syndrome -MONDO:0864993 pilomyxoid astrocytoma GARD:20710 MONDO:equivalentTo Pilomyxoid astrocytoma -MONDO:0864994 pituicytoma GARD:20711 MONDO:equivalentTo Pituicytoma -MONDO:0864995 oligoastrocytic tumor GARD:20712 MONDO:equivalentTo Oligoastrocytic tumor -MONDO:0864996 glial tumor of neuroepithelial tissue with unknown origin GARD:20713 MONDO:equivalentTo Glial tumor of neuroepithelial tissue with unknown origin -MONDO:0864997 angiocentric glioma GARD:20714 MONDO:equivalentTo Angiocentric glioma -MONDO:0864998 chordoid glioma GARD:20715 MONDO:equivalentTo Chordoid glioma -MONDO:0864999 embryonal tumor of neuroepithelial tissue GARD:20716 MONDO:equivalentTo Embryonal tumor of neuroepithelial tissue -MONDO:0865000 anaplastic/large cell medulloblastoma GARD:20717 MONDO:equivalentTo Anaplastic/large cell medulloblastoma -MONDO:0865001 central nervous system embryonal tumor GARD:20718 MONDO:equivalentTo Central nervous system embryonal tumor -MONDO:0865002 ganglioneuroblastoma GARD:20719 MONDO:equivalentTo Ganglioneuroblastoma -MONDO:0865003 ependymoblastoma GARD:20720 MONDO:equivalentTo Ependymoblastoma -MONDO:0865004 medulloepithelioma of the central nervous system GARD:20721 MONDO:equivalentTo Medulloepithelioma of the central nervous system -MONDO:0865005 choroid plexus tumor GARD:20722 MONDO:equivalentTo Choroid plexus tumor -MONDO:0865006 atypical papilloma of choroid plexus GARD:20723 MONDO:equivalentTo Atypical papilloma of choroid plexus -MONDO:0865007 pineal tumor of neuroepithelial tissue GARD:20724 MONDO:equivalentTo Pineal tumor of neuroepithelial tissue -MONDO:0865008 papillary tumor of the pineal region GARD:20725 MONDO:equivalentTo Papillary tumor of the pineal region -MONDO:0865009 neuronal tumor GARD:20726 MONDO:equivalentTo Neuronal tumor -MONDO:0865010 extraventricular neurocytoma GARD:20727 MONDO:equivalentTo Extraventricular neurocytoma -MONDO:0865011 mixed neuronal-glial tumor GARD:20728 MONDO:equivalentTo Mixed neuronal-glial tumor -MONDO:0865012 desmoplastic infantile astrocytoma/ganglioglioma GARD:20729 MONDO:equivalentTo Desmoplastic infantile astrocytoma/ganglioglioma -MONDO:0865013 papillary glioneuronal tumor GARD:20730 MONDO:equivalentTo Papillary glioneuronal tumor -MONDO:0865014 ganglioneuroma GARD:20731 MONDO:equivalentTo Ganglioneuroma -MONDO:0865015 primary germ cell tumor of central nervous system GARD:20732 MONDO:equivalentTo Primary germ cell tumor of central nervous system -MONDO:0865016 yolk sac tumor of central nervous system GARD:20733 MONDO:equivalentTo Yolk sac tumor of central nervous system -MONDO:0865017 choriocarcinoma of the central nervous system GARD:20734 MONDO:equivalentTo Choriocarcinoma of the central nervous system -MONDO:0865018 teratoma of the central nervous system GARD:20735 MONDO:equivalentTo Teratoma of the central nervous system -MONDO:0865019 mixed germ cell tumor of central nervous system GARD:20736 MONDO:equivalentTo Mixed germ cell tumor of central nervous system -MONDO:0865020 tumor of meninges GARD:20737 MONDO:equivalentTo Tumor of meninges -MONDO:0865021 primary melanocytic tumor of central nervous system GARD:20738 MONDO:equivalentTo Primary melanocytic tumor of central nervous system -MONDO:0865022 diffuse leptomeningeal melanocytosis GARD:20739 MONDO:equivalentTo Diffuse leptomeningeal melanocytosis -MONDO:0865023 edinburgh malformation syndrome GARD:2074 MONDO:equivalentTo Edinburgh malformation syndrome -MONDO:0865024 meningeal melanocytoma GARD:20740 MONDO:equivalentTo Meningeal melanocytoma -MONDO:0865025 malignant peripheral nerve sheath tumor with perineurial differentiation GARD:20741 MONDO:equivalentTo Malignant peripheral nerve sheath tumor with perineurial differentiation -MONDO:0865026 inherited nervous system cancer-predisposing syndrome GARD:20742 MONDO:equivalentTo Inherited nervous system cancer-predisposing syndrome -MONDO:0865027 malignant triton tumor GARD:20743 MONDO:equivalentTo Malignant triton tumor -MONDO:0865028 rare cutaneous lichen planus GARD:20744 MONDO:equivalentTo Rare cutaneous lichen planus -MONDO:0865029 rare mucosal lichen planus GARD:20745 MONDO:equivalentTo Rare mucosal lichen planus -MONDO:0865030 inhalational botulism GARD:20746 MONDO:equivalentTo Inhalational botulism -MONDO:0865031 iatrogenic botulism GARD:20747 MONDO:equivalentTo Iatrogenic botulism -MONDO:0865032 gestational trophoblastic disease GARD:20748 MONDO:equivalentTo Gestational trophoblastic disease -MONDO:0865033 partial hydatidiform mole GARD:20749 MONDO:equivalentTo Partial hydatidiform mole -MONDO:0865034 epithelioid trophoblastic tumor GARD:20750 MONDO:equivalentTo Epithelioid trophoblastic tumor -MONDO:0865035 genetic hyperferritinemia without iron overload GARD:20751 MONDO:equivalentTo Genetic hyperferritinemia without iron overload -MONDO:0865036 pyruvate metabolism disorder GARD:20752 MONDO:equivalentTo Pyruvate metabolism disorder -MONDO:0865037 tricarboxylic acid cycle disorder GARD:20753 MONDO:equivalentTo Tricarboxylic acid cycle disorder -MONDO:0865038 mitochondrial oxidative phosphorylation disorder due to mitochondrial dna anomalies GARD:20754 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies -MONDO:0865039 mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial dna GARD:20755 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA -MONDO:0865040 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial dna GARD:20756 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0865041 mitochondrial dna-related mitochondrial myopathy GARD:20757 MONDO:equivalentTo Mitochondrial DNA-related mitochondrial myopathy -MONDO:0865042 multiple mitochondrial dna deletion syndrome GARD:20758 MONDO:equivalentTo Multiple mitochondrial DNA deletion syndrome -MONDO:0865043 ataxia neuropathy spectrum GARD:20759 MONDO:equivalentTo Ataxia neuropathy spectrum -MONDO:0865044 eec syndrome GARD:2076 MONDO:equivalentTo EEC syndrome -MONDO:0865045 mitochondrial oxidative phosphorylation disorder with no known mechanism GARD:20760 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder with no known mechanism -MONDO:0865046 mitochondrial membrane transport disorder GARD:20761 MONDO:equivalentTo Mitochondrial membrane transport disorder -MONDO:0865047 mitochondrial substrate carrier disorder GARD:20762 MONDO:equivalentTo Mitochondrial substrate carrier disorder -MONDO:0865048 mitochondrial protein import disorder GARD:20763 MONDO:equivalentTo Mitochondrial protein import disorder -MONDO:0865049 unspecified mitochondrial disorder GARD:20764 MONDO:equivalentTo Unspecified mitochondrial disorder -MONDO:0865050 exercise intolerance with lactic acidosis GARD:20765 MONDO:equivalentTo Exercise intolerance with lactic acidosis -MONDO:0865051 isolated oxidative phosphorylation complex disorder GARD:20766 MONDO:equivalentTo Isolated oxidative phosphorylation complex disorder -MONDO:0865052 mitochondrial dna-related dystonia GARD:20767 MONDO:equivalentTo Mitochondrial DNA-related dystonia -MONDO:0865053 pure mitochondrial myopathy GARD:20768 MONDO:equivalentTo Pure mitochondrial myopathy -MONDO:0865054 mitochondrial dna depletion syndrome, hepatocerebral form GARD:20769 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, hepatocerebral form -MONDO:0865055 distal 7q11.23 microduplication syndrome GARD:20770 MONDO:equivalentTo Distal 7q11.23 microduplication syndrome -MONDO:0865056 foxg1 syndrome due to 14q12 microdeletion GARD:20771 MONDO:equivalentTo FOXG1 syndrome due to 14q12 microdeletion -MONDO:0865057 16p11.2p12.2 microduplication syndrome GARD:20772 MONDO:equivalentTo 16p11.2p12.2 microduplication syndrome -MONDO:0865058 14q11.2 microduplication syndrome GARD:20773 MONDO:equivalentTo 14q11.2 microduplication syndrome -MONDO:0865059 16p13.11 microdeletion syndrome GARD:20774 MONDO:equivalentTo 16p13.11 microdeletion syndrome -MONDO:0865060 16p13.11 microduplication syndrome GARD:20775 MONDO:equivalentTo 16p13.11 microduplication syndrome -MONDO:0865061 distal 17p13.3 microdeletion syndrome GARD:20776 MONDO:equivalentTo Distal 17p13.3 microdeletion syndrome -MONDO:0865062 paternal 20q13.2q13.3 microdeletion syndrome GARD:20777 MONDO:equivalentTo Paternal 20q13.2q13.3 microdeletion syndrome -MONDO:0865063 20q13.33 microdeletion syndrome GARD:20778 MONDO:equivalentTo 20q13.33 microdeletion syndrome -MONDO:0865064 21q22.11q22.12 microdeletion syndrome GARD:20779 MONDO:equivalentTo 21q22.11q22.12 microdeletion syndrome -MONDO:0865065 eem syndrome GARD:2078 MONDO:equivalentTo EEM syndrome -MONDO:0865066 distal 22q11.2 microduplication syndrome GARD:20780 MONDO:equivalentTo Distal 22q11.2 microduplication syndrome -MONDO:0865067 trisomy 1q GARD:20781 MONDO:equivalentTo Trisomy 1q -MONDO:0865068 atypical norrie disease due to xp11.3 microdeletion GARD:20782 MONDO:equivalentTo Atypical Norrie disease due to Xp11.3 microdeletion -MONDO:0865069 maternal uniparental disomy of chromosome x GARD:20783 MONDO:equivalentTo Maternal uniparental disomy of chromosome X -MONDO:0865070 paternal uniparental disomy of chromosome x GARD:20784 MONDO:equivalentTo Paternal uniparental disomy of chromosome X -MONDO:0865071 ring chromosome y syndrome GARD:20785 MONDO:equivalentTo Ring chromosome Y syndrome -MONDO:0865072 familial adenomatous polyposis due to 5q22.2 microdeletion GARD:20786 MONDO:equivalentTo Familial adenomatous polyposis due to 5q22.2 microdeletion -MONDO:0865073 okihiro syndrome due to 20q13 microdeletion GARD:20787 MONDO:equivalentTo Okihiro syndrome due to 20q13 microdeletion -MONDO:0865074 okihiro syndrome due to a point mutation GARD:20788 MONDO:equivalentTo Okihiro syndrome due to a point mutation -MONDO:0865075 partial deletion of chromosome 1 GARD:20789 MONDO:equivalentTo Partial deletion of chromosome 1 -MONDO:0865076 partial deletion of chromosome 2 GARD:20790 MONDO:equivalentTo Partial deletion of chromosome 2 -MONDO:0865077 partial deletion of chromosome 3 GARD:20791 MONDO:equivalentTo Partial deletion of chromosome 3 -MONDO:0865078 partial deletion of chromosome 4 GARD:20792 MONDO:equivalentTo Partial deletion of chromosome 4 -MONDO:0865079 partial deletion of chromosome 5 GARD:20793 MONDO:equivalentTo Partial deletion of chromosome 5 -MONDO:0865080 partial deletion of chromosome 6 GARD:20794 MONDO:equivalentTo Partial deletion of chromosome 6 -MONDO:0865081 partial deletion of chromosome 7 GARD:20795 MONDO:equivalentTo Partial deletion of chromosome 7 -MONDO:0865082 partial deletion of chromosome 8 GARD:20796 MONDO:equivalentTo Partial deletion of chromosome 8 -MONDO:0865083 partial deletion of chromosome 9 GARD:20797 MONDO:equivalentTo Partial deletion of chromosome 9 -MONDO:0865084 partial deletion of chromosome 10 GARD:20798 MONDO:equivalentTo Partial deletion of chromosome 10 -MONDO:0865085 partial deletion of chromosome 11 GARD:20799 MONDO:equivalentTo Partial deletion of chromosome 11 -MONDO:0865086 partial deletion of the long arm of chromosome 12 GARD:20800 MONDO:equivalentTo Partial deletion of the long arm of chromosome 12 -MONDO:0865087 partial deletion of chromosome 16 GARD:20801 MONDO:equivalentTo Partial deletion of chromosome 16 -MONDO:0865088 partial deletion of chromosome 17 GARD:20802 MONDO:equivalentTo Partial deletion of chromosome 17 -MONDO:0865089 partial deletion of chromosome 18 GARD:20803 MONDO:equivalentTo Partial deletion of chromosome 18 -MONDO:0865090 partial deletion of chromosome 19 GARD:20804 MONDO:equivalentTo Partial deletion of chromosome 19 -MONDO:0865091 partial deletion of chromosome 20 GARD:20805 MONDO:equivalentTo Partial deletion of chromosome 20 -MONDO:0865092 partial deletion of the short arm of chromosome 1 GARD:20806 MONDO:equivalentTo Partial deletion of the short arm of chromosome 1 -MONDO:0865093 partial deletion of the short arm of chromosome 2 GARD:20807 MONDO:equivalentTo Partial deletion of the short arm of chromosome 2 -MONDO:0865094 partial deletion of the short arm of chromosome 4 GARD:20808 MONDO:equivalentTo Partial deletion of the short arm of chromosome 4 -MONDO:0865095 partial deletion of the short arm of chromosome 5 GARD:20809 MONDO:equivalentTo Partial deletion of the short arm of chromosome 5 -MONDO:0865096 hypermobile ehlers-danlos syndrome GARD:2081 MONDO:equivalentTo Hypermobile Ehlers-Danlos syndrome -MONDO:0865097 partial deletion of the short arm of chromosome 6 GARD:20810 MONDO:equivalentTo Partial deletion of the short arm of chromosome 6 -MONDO:0865098 partial deletion of the short arm of chromosome 7 GARD:20811 MONDO:equivalentTo Partial deletion of the short arm of chromosome 7 -MONDO:0865099 partial deletion of the short arm of chromosome 8 GARD:20812 MONDO:equivalentTo Partial deletion of the short arm of chromosome 8 -MONDO:0865100 partial deletion of the short arm of chromosome 9 GARD:20813 MONDO:equivalentTo Partial deletion of the short arm of chromosome 9 -MONDO:0865101 partial deletion of the short arm of chromosome 10 GARD:20814 MONDO:equivalentTo Partial deletion of the short arm of chromosome 10 -MONDO:0865102 partial deletion of the short arm of chromosome 11 GARD:20815 MONDO:equivalentTo Partial deletion of the short arm of chromosome 11 -MONDO:0865103 partial deletion of the short arm of chromosome 16 GARD:20816 MONDO:equivalentTo Partial deletion of the short arm of chromosome 16 -MONDO:0865104 partial monosomy of the short arm of chromosome 17 GARD:20817 MONDO:equivalentTo Partial monosomy of the short arm of chromosome 17 -MONDO:0865105 partial deletion of the short arm of chromosome 18 GARD:20818 MONDO:equivalentTo Partial deletion of the short arm of chromosome 18 -MONDO:0865106 partial deletion of the short arm of chromosome 19 GARD:20819 MONDO:equivalentTo Partial deletion of the short arm of chromosome 19 -MONDO:0865107 vascular ehlers-danlos syndrome GARD:2082 MONDO:equivalentTo Vascular Ehlers-Danlos syndrome -MONDO:0865108 partial monosomy of the short arm of chromosome 20 GARD:20820 MONDO:equivalentTo Partial monosomy of the short arm of chromosome 20 -MONDO:0865109 partial deletion of the long arm of chromosome 1 GARD:20821 MONDO:equivalentTo Partial deletion of the long arm of chromosome 1 -MONDO:0865110 partial deletion of the long arm of chromosome 2 GARD:20822 MONDO:equivalentTo Partial deletion of the long arm of chromosome 2 -MONDO:0865111 partial deletion of the long arm of chromosome 3 GARD:20823 MONDO:equivalentTo Partial deletion of the long arm of chromosome 3 -MONDO:0865112 partial deletion of the long arm of chromosome 4 GARD:20824 MONDO:equivalentTo Partial deletion of the long arm of chromosome 4 -MONDO:0865113 partial deletion of the long arm of chromosome 5 GARD:20825 MONDO:equivalentTo Partial deletion of the long arm of chromosome 5 -MONDO:0865114 partial deletion of the long arm of chromosome 6 GARD:20826 MONDO:equivalentTo Partial deletion of the long arm of chromosome 6 -MONDO:0865115 partial deletion of the long arm of chromosome 7 GARD:20827 MONDO:equivalentTo Partial deletion of the long arm of chromosome 7 -MONDO:0865116 partial deletion of the long arm of chromosome 8 GARD:20828 MONDO:equivalentTo Partial deletion of the long arm of chromosome 8 -MONDO:0865117 partial monosomy of the long arm of chromosome 9 GARD:20829 MONDO:equivalentTo Partial monosomy of the long arm of chromosome 9 -MONDO:0865118 kyphoscoliotic ehlers-danlos syndrome GARD:2083 MONDO:equivalentTo Kyphoscoliotic Ehlers-Danlos syndrome -MONDO:0865119 partial monosomy of the long arm of chromosome 10 GARD:20830 MONDO:equivalentTo Partial monosomy of the long arm of chromosome 10 -MONDO:0865120 partial deletion of the long arm of chromosome 11 GARD:20831 MONDO:equivalentTo Partial deletion of the long arm of chromosome 11 -MONDO:0865121 partial deletion of the long arm of chromosome 13 GARD:20832 MONDO:equivalentTo Partial deletion of the long arm of chromosome 13 -MONDO:0865122 partial deletion of the long arm of chromosome 14 GARD:20833 MONDO:equivalentTo Partial deletion of the long arm of chromosome 14 -MONDO:0865123 partial deletion of the long arm of chromosome 15 GARD:20834 MONDO:equivalentTo Partial deletion of the long arm of chromosome 15 -MONDO:0865124 partial deletion of the long arm of chromosome 16 GARD:20835 MONDO:equivalentTo Partial deletion of the long arm of chromosome 16 -MONDO:0865125 partial deletion of the long arm of chromosome 17 GARD:20836 MONDO:equivalentTo Partial deletion of the long arm of chromosome 17 -MONDO:0865126 partial deletion of the long arm of chromosome 18 GARD:20837 MONDO:equivalentTo Partial deletion of the long arm of chromosome 18 -MONDO:0865127 partial deletion of the long arm of chromosome 19 GARD:20838 MONDO:equivalentTo Partial deletion of the long arm of chromosome 19 -MONDO:0865128 partial deletion of the long arm of chromosome 20 GARD:20839 MONDO:equivalentTo Partial deletion of the long arm of chromosome 20 -MONDO:0865129 arthrochalasia ehlers-danlos syndrome GARD:2084 MONDO:equivalentTo Arthrochalasia Ehlers-Danlos syndrome -MONDO:0865130 partial deletion of the long arm of chromosome 21 GARD:20840 MONDO:equivalentTo Partial deletion of the long arm of chromosome 21 -MONDO:0865131 partial deletion of the long arm of chromosome 22 GARD:20841 MONDO:equivalentTo Partial deletion of the long arm of chromosome 22 -MONDO:0865132 partial duplication of chromosome 1 GARD:20842 MONDO:equivalentTo Partial duplication of chromosome 1 -MONDO:0865133 partial duplication of chromosome 2 GARD:20843 MONDO:equivalentTo Partial duplication of chromosome 2 -MONDO:0865134 partial duplication of chromosome 3 GARD:20844 MONDO:equivalentTo Partial duplication of chromosome 3 -MONDO:0865135 partial duplication of chromosome 4 GARD:20845 MONDO:equivalentTo Partial duplication of chromosome 4 -MONDO:0865136 partial trisomy/tetrasomy of chromosome 5 GARD:20846 MONDO:equivalentTo Partial trisomy/tetrasomy of chromosome 5 -MONDO:0865137 partial duplication of chromosome 6 GARD:20847 MONDO:equivalentTo Partial duplication of chromosome 6 -MONDO:0865138 partial duplication of chromosome 7 GARD:20848 MONDO:equivalentTo Partial duplication of chromosome 7 -MONDO:0865139 partial duplication of chromosome 8 GARD:20849 MONDO:equivalentTo Partial duplication of chromosome 8 -MONDO:0865140 partial trisomy/tetrasomy of chromosome 9 GARD:20850 MONDO:equivalentTo Partial trisomy/tetrasomy of chromosome 9 -MONDO:0865141 partial duplication of chromosome 10 GARD:20851 MONDO:equivalentTo Partial duplication of chromosome 10 -MONDO:0865142 partial duplication of chromosome 11 GARD:20852 MONDO:equivalentTo Partial duplication of chromosome 11 -MONDO:0865143 partial trisomy/tetrasomy of the short arm of chromosome 12 GARD:20853 MONDO:equivalentTo Partial trisomy/tetrasomy of the short arm of chromosome 12 -MONDO:0865144 partial duplication of chromosome 16 GARD:20854 MONDO:equivalentTo Partial duplication of chromosome 16 -MONDO:0865145 partial duplication of chromosome 17 GARD:20855 MONDO:equivalentTo Partial duplication of chromosome 17 -MONDO:0865146 partial trisomy/tetrasomy of chromosome 18 GARD:20856 MONDO:equivalentTo Partial trisomy/tetrasomy of chromosome 18 -MONDO:0865147 partial duplication of chromosome 19 GARD:20857 MONDO:equivalentTo Partial duplication of chromosome 19 -MONDO:0865148 partial trisomy of chromosome 20 GARD:20858 MONDO:equivalentTo Partial trisomy of chromosome 20 -MONDO:0865149 partial duplication of the short arm of chromosome 2 GARD:20859 MONDO:equivalentTo Partial duplication of the short arm of chromosome 2 -MONDO:0865150 partial duplication of the short arm of chromosome 3 GARD:20860 MONDO:equivalentTo Partial duplication of the short arm of chromosome 3 -MONDO:0865151 partial duplication of the short arm of chromosome 4 GARD:20861 MONDO:equivalentTo Partial duplication of the short arm of chromosome 4 -MONDO:0865152 partial trisomy/tetrasomy of the short arm of chromosome 5 GARD:20862 MONDO:equivalentTo Partial trisomy/tetrasomy of the short arm of chromosome 5 -MONDO:0865153 partial duplication of the short arm of chromosome 6 GARD:20863 MONDO:equivalentTo Partial duplication of the short arm of chromosome 6 -MONDO:0865154 partial duplication of the short arm of chromosome 7 GARD:20864 MONDO:equivalentTo Partial duplication of the short arm of chromosome 7 -MONDO:0865155 partial duplication of the short arm of chromosome 8 GARD:20865 MONDO:equivalentTo Partial duplication of the short arm of chromosome 8 -MONDO:0865156 partial trisomy/tetrasomy of the short arm of chromosome 9 GARD:20866 MONDO:equivalentTo Partial trisomy/tetrasomy of the short arm of chromosome 9 -MONDO:0865157 partial duplication of the short arm of chromosome 10 GARD:20867 MONDO:equivalentTo Partial duplication of the short arm of chromosome 10 -MONDO:0865158 partial duplication of the short arm of chromosome 11 GARD:20868 MONDO:equivalentTo Partial duplication of the short arm of chromosome 11 -MONDO:0865159 partial duplication of the short arm of chromosome 16 GARD:20869 MONDO:equivalentTo Partial duplication of the short arm of chromosome 16 -MONDO:0865160 partial duplication of the short arm of chromosome 17 GARD:20870 MONDO:equivalentTo Partial duplication of the short arm of chromosome 17 -MONDO:0865161 partial trisomy/tetrasomy of the short arm of chromosome 18 GARD:20871 MONDO:equivalentTo Partial trisomy/tetrasomy of the short arm of chromosome 18 -MONDO:0865162 partial duplication of the long arm of chromosome 1 GARD:20872 MONDO:equivalentTo Partial duplication of the long arm of chromosome 1 -MONDO:0865163 partial duplication of the long arm of chromosome 2 GARD:20873 MONDO:equivalentTo Partial duplication of the long arm of chromosome 2 -MONDO:0865164 partial duplication of the long arm of chromosome 3 GARD:20874 MONDO:equivalentTo Partial duplication of the long arm of chromosome 3 -MONDO:0865165 partial duplication of the long arm of chromosome 4 GARD:20875 MONDO:equivalentTo Partial duplication of the long arm of chromosome 4 -MONDO:0865166 partial trisomy of the long arm of chromosome 5 GARD:20876 MONDO:equivalentTo Partial trisomy of the long arm of chromosome 5 -MONDO:0865167 partial duplication of the long arm of chromosome 6 GARD:20877 MONDO:equivalentTo Partial duplication of the long arm of chromosome 6 -MONDO:0865168 partial duplication of the long arm of chromosome 7 GARD:20878 MONDO:equivalentTo Partial duplication of the long arm of chromosome 7 -MONDO:0865169 partial duplication of the long arm of chromosome 8 GARD:20879 MONDO:equivalentTo Partial duplication of the long arm of chromosome 8 -MONDO:0865170 classical ehlers-danlos syndrome GARD:2088 MONDO:equivalentTo Classical Ehlers-Danlos syndrome -MONDO:0865171 partial trisomy of the long arm of chromosome 9 GARD:20880 MONDO:equivalentTo Partial trisomy of the long arm of chromosome 9 -MONDO:0865172 partial duplication of the long arm of chromosome 10 GARD:20881 MONDO:equivalentTo Partial duplication of the long arm of chromosome 10 -MONDO:0865173 partial duplication of the long arm of chromosome 11 GARD:20882 MONDO:equivalentTo Partial duplication of the long arm of chromosome 11 -MONDO:0865174 partial duplication of the long arm of chromosome 13 GARD:20883 MONDO:equivalentTo Partial duplication of the long arm of chromosome 13 -MONDO:0865175 partial duplication of the long arm of chromosome 14 GARD:20884 MONDO:equivalentTo Partial duplication of the long arm of chromosome 14 -MONDO:0865176 partial duplication of the long arm of chromosome 15 GARD:20885 MONDO:equivalentTo Partial duplication of the long arm of chromosome 15 -MONDO:0865177 partial trisomy of the long arm of chromosome 16 GARD:20886 MONDO:equivalentTo Partial trisomy of the long arm of chromosome 16 -MONDO:0865178 partial duplication of the long arm of chromosome 17 GARD:20887 MONDO:equivalentTo Partial duplication of the long arm of chromosome 17 -MONDO:0865179 partial trisomy of the long arm of chromosome 18 GARD:20888 MONDO:equivalentTo Partial trisomy of the long arm of chromosome 18 -MONDO:0865180 partial duplication of the long arm of chromosome 19 GARD:20889 MONDO:equivalentTo Partial duplication of the long arm of chromosome 19 -MONDO:0865181 dermatosparaxis ehlers-danlos syndrome GARD:2089 MONDO:equivalentTo Dermatosparaxis Ehlers-Danlos syndrome -MONDO:0865182 partial trisomy of the long arm of chromosome 20 GARD:20890 MONDO:equivalentTo Partial trisomy of the long arm of chromosome 20 -MONDO:0865183 partial duplication of the long arm of chromosome 22 GARD:20891 MONDO:equivalentTo Partial duplication of the long arm of chromosome 22 -MONDO:0865184 thymoma type a GARD:20892 MONDO:equivalentTo Thymoma type A -MONDO:0865185 thymoma type b GARD:20893 MONDO:equivalentTo Thymoma type B -MONDO:0865186 thymoma type ab GARD:20894 MONDO:equivalentTo Thymoma type AB -MONDO:0865187 well-differentiated thymic neuroendocrine carcinoma GARD:20895 MONDO:equivalentTo Well-differentiated thymic neuroendocrine carcinoma -MONDO:0865188 moderately-differentiated thymic neuroendocrine carcinoma GARD:20896 MONDO:equivalentTo Moderately-differentiated thymic neuroendocrine carcinoma -MONDO:0865189 poorly differentiated thymic neuroendocrine carcinoma GARD:20897 MONDO:equivalentTo Poorly differentiated thymic neuroendocrine carcinoma -MONDO:0865190 postcardiotomy right ventricular failure GARD:20898 MONDO:equivalentTo Postcardiotomy right ventricular failure -MONDO:0865191 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome GARD:20899 MONDO:equivalentTo Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome -MONDO:0865192 angiosarcoma GARD:20900 MONDO:equivalentTo Angiosarcoma -MONDO:0865193 nevus of ota GARD:20901 MONDO:equivalentTo Nevus of Ota -MONDO:0865194 congenital smooth muscle hamartoma GARD:20902 MONDO:equivalentTo Congenital smooth muscle hamartoma -MONDO:0865195 hyperinsulinism due to hnf4a deficiency GARD:20903 MONDO:equivalentTo Hyperinsulinism due to HNF4A deficiency -MONDO:0865196 peeling skin syndrome type c GARD:20904 MONDO:equivalentTo Peeling skin syndrome type C -MONDO:0865197 nk-cell enteropathy GARD:20905 MONDO:equivalentTo NK-cell enteropathy -MONDO:0865198 complex chromosomal rearrangement GARD:20906 MONDO:equivalentTo Complex chromosomal rearrangement -MONDO:0865199 x chromosome number anomaly GARD:20907 MONDO:equivalentTo X chromosome number anomaly -MONDO:0865200 x chromosome number anomaly with female phenotype GARD:20908 MONDO:equivalentTo X chromosome number anomaly with female phenotype -MONDO:0865201 x chromosome number anomaly with male phenotype GARD:20909 MONDO:equivalentTo X chromosome number anomaly with male phenotype -MONDO:0865202 polysomy of x chromosome GARD:20910 MONDO:equivalentTo Polysomy of X chromosome -MONDO:0865203 partial deletion of chromosome x GARD:20911 MONDO:equivalentTo Partial deletion of chromosome X -MONDO:0865204 partial monosomy of the short arm of chromosome x GARD:20912 MONDO:equivalentTo Partial monosomy of the short arm of chromosome X -MONDO:0865205 y chromosome number anomaly GARD:20913 MONDO:equivalentTo Y chromosome number anomaly -MONDO:0865206 x and y chromosomal anomaly GARD:20914 MONDO:equivalentTo X and Y chromosomal anomaly -MONDO:0865207 partial deletion of the long arm of chromosome x GARD:20915 MONDO:equivalentTo Partial deletion of the long arm of chromosome X -MONDO:0865208 partial duplication of chromosome x GARD:20916 MONDO:equivalentTo Partial duplication of chromosome X -MONDO:0865209 partial duplication of the long arm of chromosome x GARD:20917 MONDO:equivalentTo Partial duplication of the long arm of chromosome X -MONDO:0865210 uniparental disomy of chromosome x GARD:20918 MONDO:equivalentTo Uniparental disomy of chromosome X -MONDO:0865211 partial duplication of the short arm of chromosome 1 GARD:20919 MONDO:equivalentTo Partial duplication of the short arm of chromosome 1 -MONDO:0865212 ehrlichiosis GARD:2092 MONDO:equivalentTo Ehrlichiosis -MONDO:0865213 trisomy 8p GARD:20920 MONDO:equivalentTo Trisomy 8p -MONDO:0865214 interstitial lung disease specific to childhood GARD:20921 MONDO:equivalentTo Interstitial lung disease specific to childhood -MONDO:0865215 primary interstitial lung disease specific to childhood due to alveolar structure disorder GARD:20922 MONDO:equivalentTo Primary interstitial lung disease specific to childhood due to alveolar structure disorder -MONDO:0865216 primary interstitial lung disease specific to childhood due to alveolar vascular disorder GARD:20923 MONDO:equivalentTo Primary interstitial lung disease specific to childhood due to alveolar vascular disorder -MONDO:0865217 isolated pulmonary capillaritis GARD:20924 MONDO:equivalentTo Isolated pulmonary capillaritis -MONDO:0865218 interstitial lung disease specific to infancy GARD:20925 MONDO:equivalentTo Interstitial lung disease specific to infancy -MONDO:0865219 secondary interstitial lung disease specific to childhood associated with a systemic disease GARD:20926 MONDO:equivalentTo Secondary interstitial lung disease specific to childhood associated with a systemic disease -MONDO:0865220 secondary interstitial lung disease specific to childhood associated with a connective tissue disease GARD:20927 MONDO:equivalentTo Secondary interstitial lung disease specific to childhood associated with a connective tissue disease -MONDO:0865221 secondary interstitial lung disease specific to childhood associated with a systemic vasculitis GARD:20928 MONDO:equivalentTo Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis -MONDO:0865222 secondary interstitial lung disease specific to childhood associated with a granulomatous disease GARD:20929 MONDO:equivalentTo Secondary interstitial lung disease specific to childhood associated with a granulomatous disease -MONDO:0865223 secondary interstitial lung disease specific to childhood associated with a metabolic disease GARD:20930 MONDO:equivalentTo Secondary interstitial lung disease specific to childhood associated with a metabolic disease -MONDO:0865224 interstitial lung disease specific to adulthood GARD:20931 MONDO:equivalentTo Interstitial lung disease specific to adulthood -MONDO:0865225 primary interstitial lung disease specific to adulthood GARD:20932 MONDO:equivalentTo Primary interstitial lung disease specific to adulthood -MONDO:0865226 secondary interstitial lung disease specific to adulthood associated with a systemic disease GARD:20933 MONDO:equivalentTo Secondary interstitial lung disease specific to adulthood associated with a systemic disease -MONDO:0865227 interstitial lung disease in childhood and adulthood GARD:20934 MONDO:equivalentTo Interstitial lung disease in childhood and adulthood -MONDO:0865228 primary interstitial lung disease in childhood and adulthood GARD:20935 MONDO:equivalentTo Primary interstitial lung disease in childhood and adulthood -MONDO:0865229 primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder GARD:20936 MONDO:equivalentTo Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder -MONDO:0865230 primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder GARD:20937 MONDO:equivalentTo Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder -MONDO:0865231 secondary interstitial lung disease in childhood and adulthood GARD:20938 MONDO:equivalentTo Secondary interstitial lung disease in childhood and adulthood -MONDO:0865232 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease GARD:20939 MONDO:equivalentTo Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease -MONDO:0865233 secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease GARD:20940 MONDO:equivalentTo Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease -MONDO:0865234 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis GARD:20941 MONDO:equivalentTo Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis -MONDO:0865235 drug or radiation exposure-related interstitial lung disease GARD:20942 MONDO:equivalentTo Drug or radiation exposure-related interstitial lung disease -MONDO:0865236 exposure-related interstitial lung disease GARD:20943 MONDO:equivalentTo Exposure-related interstitial lung disease -MONDO:0865237 genetic interstitial lung disease GARD:20944 MONDO:equivalentTo Genetic interstitial lung disease -MONDO:0865238 intraocular medulloepithelioma GARD:20945 MONDO:equivalentTo Intraocular medulloepithelioma -MONDO:0865239 mycophenolate mofetil embryopathy GARD:20946 MONDO:equivalentTo Mycophenolate mofetil embryopathy -MONDO:0865240 dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion GARD:20947 MONDO:equivalentTo DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion -MONDO:0865241 complication in hemodialysis GARD:20948 MONDO:equivalentTo Complication in hemodialysis -MONDO:0865242 open iniencephaly GARD:20949 MONDO:equivalentTo Open iniencephaly -MONDO:0865243 closed iniencephaly GARD:20950 MONDO:equivalentTo Closed iniencephaly -MONDO:0865244 spina bifida aperta GARD:20951 MONDO:equivalentTo Spina bifida aperta -MONDO:0865245 total spina bifida aperta GARD:20952 MONDO:equivalentTo Total spina bifida aperta -MONDO:0865246 thoracolumbosacral spina bifida aperta GARD:20953 MONDO:equivalentTo Thoracolumbosacral spina bifida aperta -MONDO:0865247 lumbosacral spina bifida aperta GARD:20954 MONDO:equivalentTo Lumbosacral spina bifida aperta -MONDO:0865248 cervical spina bifida aperta GARD:20955 MONDO:equivalentTo Cervical spina bifida aperta -MONDO:0865249 cervicothoracic spina bifida aperta GARD:20956 MONDO:equivalentTo Cervicothoracic spina bifida aperta -MONDO:0865250 upper thoracic spina bifida aperta GARD:20957 MONDO:equivalentTo Upper thoracic spina bifida aperta -MONDO:0865251 spina bifida cystica GARD:20958 MONDO:equivalentTo Spina bifida cystica -MONDO:0865252 total spina bifida cystica GARD:20959 MONDO:equivalentTo Total spina bifida cystica -MONDO:0865253 acrocephalopolydactyly GARD:2096 MONDO:equivalentTo Acrocephalopolydactyly -MONDO:0865254 thoracolumbosacral spina bifida cystica GARD:20960 MONDO:equivalentTo Thoracolumbosacral spina bifida cystica -MONDO:0865255 lumbosacral spina bifida cystica GARD:20961 MONDO:equivalentTo Lumbosacral spina bifida cystica -MONDO:0865256 cervical spina bifida cystica GARD:20962 MONDO:equivalentTo Cervical spina bifida cystica -MONDO:0865257 cervicothoracic spina bifida cystica GARD:20963 MONDO:equivalentTo Cervicothoracic spina bifida cystica -MONDO:0865258 upper thoracic spina bifida cystica GARD:20964 MONDO:equivalentTo Upper thoracic spina bifida cystica -MONDO:0865259 posterior meningocele GARD:20965 MONDO:equivalentTo Posterior meningocele -MONDO:0865260 myelocystocele GARD:20966 MONDO:equivalentTo Myelocystocele -MONDO:0865261 cephalocele GARD:20967 MONDO:equivalentTo Cephalocele -MONDO:0865262 cranial meningocele GARD:20968 MONDO:equivalentTo Cranial meningocele -MONDO:0865263 occipital encephalocele GARD:20969 MONDO:equivalentTo Occipital encephalocele -MONDO:0865264 parietal encephalocele GARD:20970 MONDO:equivalentTo Parietal encephalocele -MONDO:0865265 basal encephalocele GARD:20971 MONDO:equivalentTo Basal encephalocele -MONDO:0865266 lipoma associated with neurospinal dysraphism GARD:20972 MONDO:equivalentTo Lipoma associated with neurospinal dysraphism -MONDO:0865267 leptomyelolipoma GARD:20973 MONDO:equivalentTo Leptomyelolipoma -MONDO:0865268 malformation of the neurenteric canal, spinal cord and column GARD:20974 MONDO:equivalentTo Malformation of the neurenteric canal, spinal cord and column -MONDO:0865269 neurenteric cyst GARD:20975 MONDO:equivalentTo Neurenteric cyst -MONDO:0865270 isolated amyelia GARD:20976 MONDO:equivalentTo Isolated amyelia -MONDO:0865271 isolated megalencephaly GARD:20977 MONDO:equivalentTo Isolated megalencephaly -MONDO:0865272 midline cerebral malformation GARD:20978 MONDO:equivalentTo Midline cerebral malformation -MONDO:0865273 isolated arhinencephaly GARD:20979 MONDO:equivalentTo Isolated arhinencephaly -MONDO:0865274 microcephaly-cardiac defect-lung malsegmentation syndrome GARD:2098 MONDO:equivalentTo Microcephaly-cardiac defect-lung malsegmentation syndrome -MONDO:0865275 unilateral polymicrogyria GARD:20980 MONDO:equivalentTo Unilateral polymicrogyria -MONDO:0865276 unilateral focal polymicrogyria GARD:20981 MONDO:equivalentTo Unilateral focal polymicrogyria -MONDO:0865277 cerebral cortical dysplasia GARD:20982 MONDO:equivalentTo Cerebral cortical dysplasia -MONDO:0865278 isolated focal cortical dysplasia type i GARD:20983 MONDO:equivalentTo Isolated focal cortical dysplasia type I -MONDO:0865279 isolated focal cortical dysplasia type ia GARD:20984 MONDO:equivalentTo Isolated focal cortical dysplasia type Ia -MONDO:0865280 isolated focal cortical dysplasia type ib GARD:20985 MONDO:equivalentTo Isolated focal cortical dysplasia type Ib -MONDO:0865281 isolated focal cortical dysplasia type ic GARD:20986 MONDO:equivalentTo Isolated focal cortical dysplasia type Ic -MONDO:0865282 encephaloclastic disorder GARD:20987 MONDO:equivalentTo Encephaloclastic disorder -MONDO:0865283 central nervous system cystic malformation GARD:20988 MONDO:equivalentTo Central nervous system cystic malformation -MONDO:0865284 glioependymal/ependymal cyst GARD:20989 MONDO:equivalentTo Glioependymal/ependymal cyst -MONDO:0865285 isolated cerebellar vermis agenesis GARD:20990 MONDO:equivalentTo Isolated cerebellar vermis agenesis -MONDO:0865286 isolated total cerebellar vermis agenesis GARD:20991 MONDO:equivalentTo Isolated total cerebellar vermis agenesis -MONDO:0865287 isolated partial cerebellar vermis agenesis GARD:20992 MONDO:equivalentTo Isolated partial cerebellar vermis agenesis -MONDO:0865288 isolated dandy-walker malformation with hydrocephalus GARD:20993 MONDO:equivalentTo Isolated Dandy-Walker malformation with hydrocephalus -MONDO:0865289 isolated dandy-walker malformation without hydrocephalus GARD:20994 MONDO:equivalentTo Isolated Dandy-Walker malformation without hydrocephalus -MONDO:0865290 isolated unilateral hemispheric cerebellar hypoplasia GARD:20995 MONDO:equivalentTo Isolated unilateral hemispheric cerebellar hypoplasia -MONDO:0865291 isolated bilateral hemispheric cerebellar hypoplasia GARD:20996 MONDO:equivalentTo Isolated bilateral hemispheric cerebellar hypoplasia -MONDO:0865292 global cerebellar malformation GARD:20997 MONDO:equivalentTo Global cerebellar malformation -MONDO:0865293 congenital communicating hydrocephalus GARD:20998 MONDO:equivalentTo Congenital communicating hydrocephalus -MONDO:0865294 syndrome with a cerebellar malformation as a major feature GARD:20999 MONDO:equivalentTo Syndrome with a cerebellar malformation as a major feature -MONDO:0865295 syndrome with microcephaly as a major feature GARD:21000 MONDO:equivalentTo Syndrome with microcephaly as a major feature -MONDO:0865296 other syndrome with a central nervous system malformation as a major feature GARD:21001 MONDO:equivalentTo Other syndrome with a central nervous system malformation as a major feature -MONDO:0865297 syndrome with a dandy-walker malformation as a major feature GARD:21002 MONDO:equivalentTo Syndrome with a Dandy-Walker malformation as a major feature -MONDO:0865298 genetic non-syndromic central nervous system malformation GARD:21003 MONDO:equivalentTo Genetic non-syndromic central nervous system malformation -MONDO:0865299 genetic cerebral malformation GARD:21004 MONDO:equivalentTo Genetic cerebral malformation -MONDO:0865300 genetic posterior fossa malformation GARD:21005 MONDO:equivalentTo Genetic posterior fossa malformation -MONDO:0865301 genetic cerebellar malformation GARD:21006 MONDO:equivalentTo Genetic cerebellar malformation -MONDO:0865302 genetic syndrome with a central nervous system malformation as a major feature GARD:21007 MONDO:equivalentTo Genetic syndrome with a central nervous system malformation as a major feature -MONDO:0865303 genetic syndrome with a cerebellar malformation as a major feature GARD:21008 MONDO:equivalentTo Genetic syndrome with a cerebellar malformation as a major feature -MONDO:0865304 genetic syndrome with a dandy-walker malformation as a major feature GARD:21009 MONDO:equivalentTo Genetic syndrome with a Dandy-Walker malformation as a major feature -MONDO:0865305 genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature GARD:21010 MONDO:equivalentTo Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0865306 genetic soft tissue tumor GARD:21011 MONDO:equivalentTo Genetic soft tissue tumor -MONDO:0865307 genetic digestive tract tumor GARD:21012 MONDO:equivalentTo Genetic digestive tract tumor -MONDO:0865308 genetic cardiac tumor GARD:21013 MONDO:equivalentTo Genetic cardiac tumor -MONDO:0865309 genetic urogenital tumor GARD:21014 MONDO:equivalentTo Genetic urogenital tumor -MONDO:0865310 genetic neuroendocrine tumor GARD:21015 MONDO:equivalentTo Genetic neuroendocrine tumor -MONDO:0865311 genetic cardiac anomaly GARD:21016 MONDO:equivalentTo Genetic cardiac anomaly -MONDO:0865312 hereditary attr amyloidosis GARD:21017 MONDO:equivalentTo Hereditary ATTR amyloidosis -MONDO:0865313 rare genetic systemic or rheumatologic disease GARD:21018 MONDO:equivalentTo Rare genetic systemic or rheumatologic disease -MONDO:0865314 rare hemorrhagic disorder due to a constitutional thrombocytopenia GARD:21019 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional thrombocytopenia -MONDO:0865315 x-linked emery-dreifuss muscular dystrophy GARD:2102 MONDO:equivalentTo X-linked Emery-Dreifuss muscular dystrophy -MONDO:0865316 rare hemorrhagic disorder due to a qualitative platelet defect GARD:21020 MONDO:equivalentTo Rare hemorrhagic disorder due to a qualitative platelet defect -MONDO:0865317 genetic infertility GARD:21021 MONDO:equivalentTo Genetic infertility -MONDO:0865318 alpha-thalassemia and related disorders GARD:21022 MONDO:equivalentTo Alpha-thalassemia and related disorders -MONDO:0865319 beta-thalassemia and related diseases GARD:21023 MONDO:equivalentTo Beta-thalassemia and related diseases -MONDO:0865320 sickle cell disease and related diseases GARD:21024 MONDO:equivalentTo Sickle cell disease and related diseases -MONDO:0865321 idiopathic pulmonary arterial hypertension GARD:21025 MONDO:equivalentTo Idiopathic pulmonary arterial hypertension -MONDO:0865322 drug- or toxin-induced pulmonary arterial hypertension GARD:21026 MONDO:equivalentTo Drug- or toxin-induced pulmonary arterial hypertension -MONDO:0865323 pulmonary arterial hypertension associated with another disease GARD:21027 MONDO:equivalentTo Pulmonary arterial hypertension associated with another disease -MONDO:0865324 pulmonary arterial hypertension associated with connective tissue disease GARD:21028 MONDO:equivalentTo Pulmonary arterial hypertension associated with connective tissue disease -MONDO:0865325 pulmonary arterial hypertension associated with congenital heart disease GARD:21029 MONDO:equivalentTo Pulmonary arterial hypertension associated with congenital heart disease -MONDO:0865326 pulmonary arterial hypertension associated with hiv infection GARD:21030 MONDO:equivalentTo Pulmonary arterial hypertension associated with HIV infection -MONDO:0865327 pulmonary arterial hypertension associated with portal hypertension GARD:21031 MONDO:equivalentTo Pulmonary arterial hypertension associated with portal hypertension -MONDO:0865328 pulmonary arterial hypertension associated with schistosomiasis GARD:21032 MONDO:equivalentTo Pulmonary arterial hypertension associated with schistosomiasis -MONDO:0865329 pulmonary arterial hypertension associated with chronic hemolytic anemia GARD:21033 MONDO:equivalentTo Pulmonary arterial hypertension associated with chronic hemolytic anemia -MONDO:0865330 pulmonary hypertension owing to lung disease and/or hypoxia GARD:21034 MONDO:equivalentTo Pulmonary hypertension owing to lung disease and/or hypoxia -MONDO:0865331 pulmonary hypertension with unclear multifactorial mechanism GARD:21035 MONDO:equivalentTo Pulmonary hypertension with unclear multifactorial mechanism -MONDO:0865332 syndrome with pulmonary hypertension as a major feature GARD:21036 MONDO:equivalentTo Syndrome with pulmonary hypertension as a major feature -MONDO:0865333 hemolytic disease due to fetomaternal alloimmunization GARD:21037 MONDO:equivalentTo Hemolytic disease due to fetomaternal alloimmunization -MONDO:0865334 hemolytic disease of the newborn with kell alloimmunization GARD:21038 MONDO:equivalentTo Hemolytic disease of the newborn with Kell alloimmunization -MONDO:0865335 genetic neurodegenerative disease with dementia GARD:21039 MONDO:equivalentTo Genetic neurodegenerative disease with dementia -MONDO:0865336 congenital lobar emphysema GARD:2104 MONDO:equivalentTo Congenital lobar emphysema -MONDO:0865337 genetic frontotemporal degeneration with dementia GARD:21040 MONDO:equivalentTo Genetic frontotemporal degeneration with dementia -MONDO:0865338 bile acid coa ligase deficiency and defective amidation GARD:21041 MONDO:equivalentTo Bile acid CoA ligase deficiency and defective amidation -MONDO:0865339 rare tumor of salivary glands GARD:21042 MONDO:equivalentTo Rare tumor of salivary glands -MONDO:0865340 malignant epithelial tumor of salivary glands GARD:21043 MONDO:equivalentTo Malignant epithelial tumor of salivary glands -MONDO:0865341 multiple endocrine neoplasia GARD:21044 MONDO:equivalentTo Multiple endocrine neoplasia -MONDO:0865342 idiopathic recurrent stupor GARD:21045 MONDO:equivalentTo Idiopathic recurrent stupor -MONDO:0865343 mucopolysaccharidosis type 6, rapidly progressing GARD:21046 MONDO:equivalentTo Mucopolysaccharidosis type 6, rapidly progressing -MONDO:0865344 mucopolysaccharidosis type 6, slowly progressing GARD:21047 MONDO:equivalentTo Mucopolysaccharidosis type 6, slowly progressing -MONDO:0865345 machado-joseph disease type 1 GARD:21048 MONDO:equivalentTo Machado-Joseph disease type 1 -MONDO:0865346 machado-joseph disease type 2 GARD:21049 MONDO:equivalentTo Machado-Joseph disease type 2 -MONDO:0865347 machado-joseph disease type 3 GARD:21050 MONDO:equivalentTo Machado-Joseph disease type 3 -MONDO:0865348 hemihyperplasia-multiple lipomatosis syndrome GARD:21051 MONDO:equivalentTo Hemihyperplasia-multiple lipomatosis syndrome -MONDO:0865349 10q22.3q23.3 microduplication syndrome GARD:21052 MONDO:equivalentTo 10q22.3q23.3 microduplication syndrome -MONDO:0865350 familial hyperinsulinism GARD:21053 MONDO:equivalentTo Familial hyperinsulinism -MONDO:0865351 hyperinsulinism due to ucp2 deficiency GARD:21054 MONDO:equivalentTo Hyperinsulinism due to UCP2 deficiency -MONDO:0865352 diazoxide-resistant hyperinsulinism GARD:21055 MONDO:equivalentTo Diazoxide-resistant hyperinsulinism -MONDO:0865353 non-insulinoma pancreatogenous hypoglycemia syndrome GARD:21056 MONDO:equivalentTo Non-insulinoma pancreatogenous hypoglycemia syndrome -MONDO:0865354 symptomatic form of coffin-lowry syndrome in female carriers GARD:21057 MONDO:equivalentTo Symptomatic form of Coffin-Lowry syndrome in female carriers -MONDO:0865355 spasmus nutans GARD:21058 MONDO:equivalentTo Spasmus nutans -MONDO:0865356 acute endophthalmitis GARD:21059 MONDO:equivalentTo Acute endophthalmitis -MONDO:0865357 chronic endophthalmitis GARD:21060 MONDO:equivalentTo Chronic endophthalmitis -MONDO:0865358 toxic maculopathy due to antimalarial drugs GARD:21061 MONDO:equivalentTo Toxic maculopathy due to antimalarial drugs -MONDO:0865359 primary oculocerebral lymphoma GARD:21062 MONDO:equivalentTo Primary oculocerebral lymphoma -MONDO:0865360 primary intraocular lymphoma GARD:21063 MONDO:equivalentTo Primary intraocular lymphoma -MONDO:0865361 primary organ-specific lymphoma GARD:21064 MONDO:equivalentTo Primary organ-specific lymphoma -MONDO:0865362 intermediate uveitis GARD:21065 MONDO:equivalentTo Intermediate uveitis -MONDO:0865363 infectious posterior uveitis GARD:21066 MONDO:equivalentTo Infectious posterior uveitis -MONDO:0865364 infectious anterior uveitis GARD:21067 MONDO:equivalentTo Infectious anterior uveitis -MONDO:0865365 infectious panuveitis GARD:21068 MONDO:equivalentTo Infectious panuveitis -MONDO:0865366 paraneoplastic uveitis GARD:21069 MONDO:equivalentTo Paraneoplastic uveitis -MONDO:0865367 calciphylaxis cutis GARD:21070 MONDO:equivalentTo Calciphylaxis cutis -MONDO:0865368 visceral calciphylaxis GARD:21071 MONDO:equivalentTo Visceral calciphylaxis -MONDO:0865369 laryngotracheoesophageal cleft type 0 GARD:21072 MONDO:equivalentTo Laryngotracheoesophageal cleft type 0 -MONDO:0865370 pelizaeus-merzbacher disease, classic form GARD:21073 MONDO:equivalentTo Pelizaeus-Merzbacher disease, classic form -MONDO:0865371 pelizaeus-merzbacher disease, transitional form GARD:21074 MONDO:equivalentTo Pelizaeus-Merzbacher disease, transitional form -MONDO:0865372 pelizaeus-merzbacher disease in female carriers GARD:21075 MONDO:equivalentTo Pelizaeus-Merzbacher disease in female carriers -MONDO:0865373 autoimmune pancreatitis type 1 GARD:21076 MONDO:equivalentTo Autoimmune pancreatitis type 1 -MONDO:0865374 autoimmune pancreatitis type 2 GARD:21077 MONDO:equivalentTo Autoimmune pancreatitis type 2 -MONDO:0865375 distal monosomy 12p GARD:21078 MONDO:equivalentTo Distal monosomy 12p -MONDO:0865376 rare systemic or rheumatological disease of childhood GARD:21079 MONDO:equivalentTo Rare systemic or rheumatological disease of childhood -MONDO:0865377 encephalocraniocutaneous lipomatosis GARD:2108 MONDO:equivalentTo Encephalocraniocutaneous lipomatosis -MONDO:0865378 autosomal semi-dominant severe lipodystrophic laminopathy GARD:21080 MONDO:equivalentTo Autosomal semi-dominant severe lipodystrophic laminopathy -MONDO:0865379 rare pediatric vasculitis GARD:21081 MONDO:equivalentTo Rare pediatric vasculitis -MONDO:0865380 rare pediatric systemic disease GARD:21082 MONDO:equivalentTo Rare pediatric systemic disease -MONDO:0865381 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome GARD:21083 MONDO:equivalentTo Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome -MONDO:0865382 familial alzheimer-like prion disease GARD:21084 MONDO:equivalentTo Familial Alzheimer-like prion disease -MONDO:0865383 inherited human prion disease GARD:21085 MONDO:equivalentTo Inherited human prion disease -MONDO:0865384 familial omphalocele syndrome with facial dysmorphism GARD:21086 MONDO:equivalentTo Familial omphalocele syndrome with facial dysmorphism -MONDO:0865385 generalized essential telangiectasia GARD:21087 MONDO:equivalentTo Generalized essential telangiectasia -MONDO:0865386 bullous diffuse cutaneous mastocytosis GARD:21088 MONDO:equivalentTo Bullous diffuse cutaneous mastocytosis -MONDO:0865387 pseudoxanthomatous diffuse cutaneous mastocytosis GARD:21089 MONDO:equivalentTo Pseudoxanthomatous diffuse cutaneous mastocytosis -MONDO:0865388 intralobar congenital pulmonary sequestration GARD:21090 MONDO:equivalentTo Intralobar congenital pulmonary sequestration -MONDO:0865389 extralobar congenital pulmonary sequestration GARD:21091 MONDO:equivalentTo Extralobar congenital pulmonary sequestration -MONDO:0865390 communicating congenital bronchopulmonary-foregut malformation GARD:21092 MONDO:equivalentTo Communicating congenital bronchopulmonary-foregut malformation -MONDO:0865391 congenital pulmonary airway malformation type 0 GARD:21093 MONDO:equivalentTo Congenital pulmonary airway malformation type 0 -MONDO:0865392 congenital pulmonary airway malformation type 1 GARD:21094 MONDO:equivalentTo Congenital pulmonary airway malformation type 1 -MONDO:0865393 congenital pulmonary airway malformation type 2 GARD:21095 MONDO:equivalentTo Congenital pulmonary airway malformation type 2 -MONDO:0865394 congenital pulmonary airway malformation type 3 GARD:21096 MONDO:equivalentTo Congenital pulmonary airway malformation type 3 -MONDO:0865395 congenital pulmonary airway malformation type 4 GARD:21097 MONDO:equivalentTo Congenital pulmonary airway malformation type 4 -MONDO:0865396 idiopathic anterior uveitis GARD:21098 MONDO:equivalentTo Idiopathic anterior uveitis -MONDO:0865397 idiopathic posterior uveitis GARD:21099 MONDO:equivalentTo Idiopathic posterior uveitis -MONDO:0865398 idiopathic panuveitis GARD:21100 MONDO:equivalentTo Idiopathic panuveitis -MONDO:0865399 systemic diseases with anterior uveitis GARD:21101 MONDO:equivalentTo Systemic diseases with anterior uveitis -MONDO:0865400 systemic diseases with posterior uveitis GARD:21102 MONDO:equivalentTo Systemic diseases with posterior uveitis -MONDO:0865401 systemic diseases with panuveitis GARD:21103 MONDO:equivalentTo Systemic diseases with panuveitis -MONDO:0865402 inherited non-syndromic ichthyosis GARD:21104 MONDO:equivalentTo Inherited non-syndromic ichthyosis -MONDO:0865403 inherited ichthyosis syndromic form GARD:21105 MONDO:equivalentTo Inherited ichthyosis syndromic form -MONDO:0865404 autosomal recessive congenital ichthyosis GARD:21106 MONDO:equivalentTo Autosomal recessive congenital ichthyosis -MONDO:0865405 keratinopathic ichthyosis GARD:21107 MONDO:equivalentTo Keratinopathic ichthyosis -MONDO:0865406 acral self-healing collodion baby GARD:21108 MONDO:equivalentTo Acral self-healing collodion baby -MONDO:0865407 x-linked ichthyosis syndrome GARD:21109 MONDO:equivalentTo X-linked ichthyosis syndrome -MONDO:0865408 autosomal ichthyosis syndrome GARD:21110 MONDO:equivalentTo Autosomal ichthyosis syndrome -MONDO:0865409 autosomal ichthyosis syndrome with prominent hair abnormalities GARD:21111 MONDO:equivalentTo Autosomal ichthyosis syndrome with prominent hair abnormalities -MONDO:0865410 autosomal ichthyosis syndrome with prominent neurologic signs GARD:21112 MONDO:equivalentTo Autosomal ichthyosis syndrome with prominent neurologic signs -MONDO:0865411 autosomal ichthyosis syndrome with fatal disease course GARD:21113 MONDO:equivalentTo Autosomal ichthyosis syndrome with fatal disease course -MONDO:0865412 autosomal ichthyosis syndrome with other associated signs GARD:21114 MONDO:equivalentTo Autosomal ichthyosis syndrome with other associated signs -MONDO:0865413 partial deletion of chromosome 12 GARD:21115 MONDO:equivalentTo Partial deletion of chromosome 12 -MONDO:0865414 autoimmune polyendocrinopathy GARD:21116 MONDO:equivalentTo Autoimmune polyendocrinopathy -MONDO:0865415 xp22.13p22.2 duplication syndrome GARD:21117 MONDO:equivalentTo Xp22.13p22.2 duplication syndrome -MONDO:0865416 fetal lung interstitial tumor GARD:21118 MONDO:equivalentTo Fetal lung interstitial tumor -MONDO:0865417 familial intrahepatic cholestasis GARD:21119 MONDO:equivalentTo Familial intrahepatic cholestasis -MONDO:0865418 well-differentiated fetal adenocarcinoma of the lung GARD:21120 MONDO:equivalentTo Well-differentiated fetal adenocarcinoma of the lung -MONDO:0865419 acute annular outer retinopathy GARD:21121 MONDO:equivalentTo Acute annular outer retinopathy -MONDO:0865420 qualitative or quantitative defects of troponin GARD:21122 MONDO:equivalentTo Qualitative or quantitative defects of troponin -MONDO:0865421 qualitative or quantitative defects of tropomyosin GARD:21123 MONDO:equivalentTo Qualitative or quantitative defects of tropomyosin -MONDO:0865422 ocular albinism GARD:21124 MONDO:equivalentTo Ocular albinism -MONDO:0865423 syndromic oculocutaneous albinism GARD:21125 MONDO:equivalentTo Syndromic oculocutaneous albinism -MONDO:0865424 disorder of phenylalanine metabolism GARD:21126 MONDO:equivalentTo Disorder of phenylalanine metabolism -MONDO:0865425 disorder of tyrosine metabolism GARD:21127 MONDO:equivalentTo Disorder of tyrosine metabolism -MONDO:0865426 neonatal marfan syndrome GARD:21128 MONDO:equivalentTo Neonatal Marfan syndrome -MONDO:0865427 marfan syndrome and marfan-related disorders GARD:21129 MONDO:equivalentTo Marfan syndrome and Marfan-related disorders -MONDO:0865428 bonnemann-meinecke-reich syndrome GARD:2113 MONDO:equivalentTo Bonnemann-Meinecke-Reich syndrome -MONDO:0865429 rare disease with thoracic aortic aneurysm and aortic dissection GARD:21130 MONDO:equivalentTo Rare disease with thoracic aortic aneurysm and aortic dissection -MONDO:0865430 disorder of folate metabolism and transport GARD:21131 MONDO:equivalentTo Disorder of folate metabolism and transport -MONDO:0865431 disorders of vitamin d metabolism GARD:21132 MONDO:equivalentTo Disorders of vitamin D metabolism -MONDO:0865432 hypocalcemic rickets GARD:21133 MONDO:equivalentTo Hypocalcemic rickets -MONDO:0865433 early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation GARD:21134 MONDO:equivalentTo Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation -MONDO:0865434 infective dermatitis associated with htlv-1 GARD:21135 MONDO:equivalentTo Infective dermatitis associated with HTLV-1 -MONDO:0865435 primary non-gestational choriocarcinoma of ovary GARD:21136 MONDO:equivalentTo Primary non-gestational choriocarcinoma of ovary -MONDO:0865436 non-central nervous system-localized embryonal carcinoma GARD:21137 MONDO:equivalentTo Non-central nervous system-localized embryonal carcinoma -MONDO:0865437 malignancy diagnosed during pregnancy GARD:21138 MONDO:equivalentTo Malignancy diagnosed during pregnancy -MONDO:0865438 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome GARD:21139 MONDO:equivalentTo Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome -MONDO:0865439 4h leukodystrophy GARD:21140 MONDO:equivalentTo 4H leukodystrophy -MONDO:0865440 12q15q21.1 microdeletion syndrome GARD:21141 MONDO:equivalentTo 12q15q21.1 microdeletion syndrome -MONDO:0865441 microtriplication 11q24.1 GARD:21142 MONDO:equivalentTo Microtriplication 11q24.1 -MONDO:0865442 inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency GARD:21143 MONDO:equivalentTo Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency -MONDO:0865443 juvenile nasopharyngeal angiofibroma GARD:21144 MONDO:equivalentTo Juvenile nasopharyngeal angiofibroma -MONDO:0865444 rare virus associated tumor GARD:21145 MONDO:equivalentTo Rare virus associated tumor -MONDO:0865445 epstein-barr virus-related tumor GARD:21146 MONDO:equivalentTo Epstein-Barr Virus-related tumor -MONDO:0865446 epstein-barr virus-associated malignant lymphoproliferative disorder GARD:21147 MONDO:equivalentTo Epstein-Barr virus-associated malignant lymphoproliferative disorder -MONDO:0865447 epstein-barr virus-associated carcinoma GARD:21148 MONDO:equivalentTo Epstein-Barr Virus-associated carcinoma -MONDO:0865448 epstein-barr virus-associated mesenchymal tumor GARD:21149 MONDO:equivalentTo Epstein-Barr Virus-associated mesenchymal tumor -MONDO:0865449 epstein-barr virus-positive diffuse large b-cell lymphoma of the elderly GARD:21150 MONDO:equivalentTo Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly -MONDO:0865450 lymphoepithelial-like carcinoma GARD:21151 MONDO:equivalentTo Lymphoepithelial-like carcinoma -MONDO:0865451 myopericytoma GARD:21152 MONDO:equivalentTo Myopericytoma -MONDO:0865452 late-onset primary lymphedema without systemic or visceral involvement GARD:21153 MONDO:equivalentTo Late-onset primary lymphedema without systemic or visceral involvement -MONDO:0865453 disorder of tryptophan metabolism GARD:21154 MONDO:equivalentTo Disorder of tryptophan metabolism -MONDO:0865454 disorder of lysine and hydroxylysine metabolism GARD:21155 MONDO:equivalentTo Disorder of lysine and hydroxylysine metabolism -MONDO:0865455 disorder of glutamine metabolism GARD:21156 MONDO:equivalentTo Disorder of glutamine metabolism -MONDO:0865456 disorder of proline metabolism GARD:21157 MONDO:equivalentTo Disorder of proline metabolism -MONDO:0865457 disorder of ornithine metabolism GARD:21158 MONDO:equivalentTo Disorder of ornithine metabolism -MONDO:0865458 transient hyperammonemia of the newborn GARD:21159 MONDO:equivalentTo Transient hyperammonemia of the newborn -MONDO:0865459 systemic disease with skin involvement GARD:21160 MONDO:equivalentTo Systemic disease with skin involvement -MONDO:0865460 autoinflammatory syndrome with immune deficiency GARD:21161 MONDO:equivalentTo Autoinflammatory syndrome with immune deficiency -MONDO:0865461 autoinflammatory syndrome with skin involvement GARD:21162 MONDO:equivalentTo Autoinflammatory syndrome with skin involvement -MONDO:0865462 rare head and neck tumor GARD:21163 MONDO:equivalentTo Rare head and neck tumor -MONDO:0865463 acute generalized exanthematous pustulosis GARD:21164 MONDO:equivalentTo Acute generalized exanthematous pustulosis -MONDO:0865464 pleomorphic rhabdomyosarcoma GARD:21165 MONDO:equivalentTo Pleomorphic rhabdomyosarcoma -MONDO:0865465 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria GARD:21166 MONDO:equivalentTo Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria -MONDO:0865466 grayson-wilbrandt corneal dystrophy GARD:21167 MONDO:equivalentTo Grayson-Wilbrandt corneal dystrophy -MONDO:0865467 pre-descemet corneal dystrophy GARD:21168 MONDO:equivalentTo Pre-Descemet corneal dystrophy -MONDO:0865468 ketamine-induced biliary dilatation GARD:21169 MONDO:equivalentTo Ketamine-induced biliary dilatation -MONDO:0865469 fixed drug eruption GARD:21170 MONDO:equivalentTo Fixed drug eruption -MONDO:0865470 toxic dermatosis GARD:21171 MONDO:equivalentTo Toxic dermatosis -MONDO:0865471 constitutional dyserythropoietic anemia GARD:21172 MONDO:equivalentTo Constitutional dyserythropoietic anemia -MONDO:0865472 1p21.3 microdeletion syndrome GARD:21173 MONDO:equivalentTo 1p21.3 microdeletion syndrome -MONDO:0865473 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome GARD:21174 MONDO:equivalentTo Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome -MONDO:0865474 syndactyly-nystagmus syndrome due to 2q31.1 microduplication GARD:21175 MONDO:equivalentTo Syndactyly-nystagmus syndrome due to 2q31.1 microduplication -MONDO:0865475 rare nevus GARD:21176 MONDO:equivalentTo Rare nevus -MONDO:0865476 multiple pterygium syndrome GARD:21177 MONDO:equivalentTo Multiple pterygium syndrome -MONDO:0865477 chronic intestinal failure GARD:21178 MONDO:equivalentTo Chronic intestinal failure -MONDO:0865478 amelia GARD:21179 MONDO:equivalentTo Amelia -MONDO:0865479 intercalary limb defects GARD:21180 MONDO:equivalentTo Intercalary limb defects -MONDO:0865480 congenital deformities of limbs GARD:21181 MONDO:equivalentTo Congenital deformities of limbs -MONDO:0865481 congenital deformities of fingers GARD:21182 MONDO:equivalentTo Congenital deformities of fingers -MONDO:0865482 joint formation defects GARD:21183 MONDO:equivalentTo Joint formation defects -MONDO:0865483 congenital joint dislocations GARD:21184 MONDO:equivalentTo Congenital joint dislocations -MONDO:0865484 non syndromic limb overgrowth GARD:21185 MONDO:equivalentTo Non syndromic limb overgrowth -MONDO:0865485 syndrome with limb reduction defects GARD:21186 MONDO:equivalentTo Syndrome with limb reduction defects -MONDO:0865486 dysostosis with combined reduction defects of upper and lower limbs GARD:21187 MONDO:equivalentTo Dysostosis with combined reduction defects of upper and lower limbs -MONDO:0865487 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy GARD:21188 MONDO:equivalentTo Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0865488 popliteal pterygium syndrome GARD:21189 MONDO:equivalentTo Popliteal pterygium syndrome -MONDO:0865489 amelia of upper limb GARD:21190 MONDO:equivalentTo Amelia of upper limb -MONDO:0865490 amelia of lower limb GARD:21191 MONDO:equivalentTo Amelia of lower limb -MONDO:0865491 humeral agenesis/hypoplasia GARD:21192 MONDO:equivalentTo Humeral agenesis/hypoplasia -MONDO:0865492 congenital absence of thigh and lower leg with foot present GARD:21193 MONDO:equivalentTo Congenital absence of thigh and lower leg with foot present -MONDO:0865493 congenital absence of both forearm and hand GARD:21194 MONDO:equivalentTo Congenital absence of both forearm and hand -MONDO:0865494 congenital absence of both lower leg and foot GARD:21195 MONDO:equivalentTo Congenital absence of both lower leg and foot -MONDO:0865495 acheiria GARD:21196 MONDO:equivalentTo Acheiria -MONDO:0865496 apodia GARD:21197 MONDO:equivalentTo Apodia -MONDO:0865497 congenital hypoplasia of thumb GARD:21198 MONDO:equivalentTo Congenital hypoplasia of thumb -MONDO:0865498 hyperphalangy GARD:21199 MONDO:equivalentTo Hyperphalangy -MONDO:0865499 oculodental syndrome, rutherfurd type GARD:212 MONDO:equivalentTo Oculodental syndrome, Rutherfurd type -MONDO:0865500 central polydactyly GARD:21200 MONDO:equivalentTo Central polydactyly -MONDO:0865501 syndactyly type 6 GARD:21201 MONDO:equivalentTo Syndactyly type 6 -MONDO:0865502 familial isolated clinodactyly of fingers GARD:21202 MONDO:equivalentTo Familial isolated clinodactyly of fingers -MONDO:0865503 congenital pseudoarthrosis of the tibia GARD:21203 MONDO:equivalentTo Congenital pseudoarthrosis of the tibia -MONDO:0865504 congenital pseudoarthrosis of the femur GARD:21204 MONDO:equivalentTo Congenital pseudoarthrosis of the femur -MONDO:0865505 congenital pseudoarthrosis of the fibula GARD:21205 MONDO:equivalentTo Congenital pseudoarthrosis of the fibula -MONDO:0865506 congenital pseudoarthrosis of the radius GARD:21206 MONDO:equivalentTo Congenital pseudoarthrosis of the radius -MONDO:0865507 congenital pseudoarthrosis of the ulna GARD:21207 MONDO:equivalentTo Congenital pseudoarthrosis of the ulna -MONDO:0865508 tibio-fibular synostosis GARD:21208 MONDO:equivalentTo Tibio-fibular synostosis -MONDO:0865509 true congenital shoulder dislocation GARD:21209 MONDO:equivalentTo True congenital shoulder dislocation -MONDO:0865510 isolated congenital radial head dislocation GARD:21210 MONDO:equivalentTo Isolated congenital radial head dislocation -MONDO:0865511 congenital knee dislocation GARD:21211 MONDO:equivalentTo Congenital knee dislocation -MONDO:0865512 upper limb hypertrophy GARD:21212 MONDO:equivalentTo Upper limb hypertrophy -MONDO:0865513 lower limb hypertrophy GARD:21213 MONDO:equivalentTo Lower limb hypertrophy -MONDO:0865514 zygodactyly type 2 GARD:21214 MONDO:equivalentTo Zygodactyly type 2 -MONDO:0865515 zygodactyly type 3 GARD:21215 MONDO:equivalentTo Zygodactyly type 3 -MONDO:0865516 zygodactyly type 4 GARD:21216 MONDO:equivalentTo Zygodactyly type 4 -MONDO:0865517 congenital vertical talus, unilateral GARD:21217 MONDO:equivalentTo Congenital vertical talus, unilateral -MONDO:0865518 congenital vertical talus, bilateral GARD:21218 MONDO:equivalentTo Congenital vertical talus, bilateral -MONDO:0865519 humero-ulnar synostosis, unilateral GARD:21219 MONDO:equivalentTo Humero-ulnar synostosis, unilateral -MONDO:0865520 humero-ulnar synostosis, bilateral GARD:21220 MONDO:equivalentTo Humero-ulnar synostosis, bilateral -MONDO:0865521 radio-ulnar synostosis, unilateral GARD:21221 MONDO:equivalentTo Radio-ulnar synostosis, unilateral -MONDO:0865522 radio-ulnar synostosis, bilateral GARD:21222 MONDO:equivalentTo Radio-ulnar synostosis, bilateral -MONDO:0865523 congenital elbow dislocation, unilateral GARD:21223 MONDO:equivalentTo Congenital elbow dislocation, unilateral -MONDO:0865524 congenital elbow dislocation, bilateral GARD:21224 MONDO:equivalentTo Congenital elbow dislocation, bilateral -MONDO:0865525 congenital genu recurvatum GARD:21225 MONDO:equivalentTo Congenital genu recurvatum -MONDO:0865526 congenital genu flexum GARD:21226 MONDO:equivalentTo Congenital genu flexum -MONDO:0865527 macrodactyly of fingers, unilateral GARD:21227 MONDO:equivalentTo Macrodactyly of fingers, unilateral -MONDO:0865528 macrodactyly of fingers, bilateral GARD:21228 MONDO:equivalentTo Macrodactyly of fingers, bilateral -MONDO:0865529 macrodactyly of toes, unilateral GARD:21229 MONDO:equivalentTo Macrodactyly of toes, unilateral -MONDO:0865530 eng-strom syndrome GARD:2123 MONDO:equivalentTo Eng-Strom syndrome -MONDO:0865531 macrodactyly of toes, bilateral GARD:21230 MONDO:equivalentTo Macrodactyly of toes, bilateral -MONDO:0865532 disorder of thiamine metabolism and transport GARD:21231 MONDO:equivalentTo Disorder of thiamine metabolism and transport -MONDO:0865533 11p15.4 microduplication syndrome GARD:21232 MONDO:equivalentTo 11p15.4 microduplication syndrome -MONDO:0865534 sagliker syndrome GARD:21233 MONDO:equivalentTo Sagliker syndrome -MONDO:0865535 onychomatricoma GARD:21234 MONDO:equivalentTo Onychomatricoma -MONDO:0865536 rare nail tumor GARD:21235 MONDO:equivalentTo Rare nail tumor -MONDO:0865537 follicular cholangitis and pancreatitis GARD:21236 MONDO:equivalentTo Follicular cholangitis and pancreatitis -MONDO:0865538 carcinoma of the ampulla of vater GARD:21237 MONDO:equivalentTo Carcinoma of the ampulla of Vater -MONDO:0865539 combined pulmonary fibrosis-emphysema syndrome GARD:21238 MONDO:equivalentTo Combined pulmonary fibrosis-emphysema syndrome -MONDO:0865540 staphylococcal toxemia GARD:21239 MONDO:equivalentTo Staphylococcal toxemia -MONDO:0865541 laminopathy with striated muscle involvement GARD:21240 MONDO:equivalentTo Laminopathy with striated muscle involvement -MONDO:0865542 laminopathy with peripheral neuropathy GARD:21241 MONDO:equivalentTo Laminopathy with peripheral neuropathy -MONDO:0865543 laminopathy with lipodystrophy GARD:21242 MONDO:equivalentTo Laminopathy with lipodystrophy -MONDO:0865544 laminopathy with premature aging GARD:21243 MONDO:equivalentTo Laminopathy with premature aging -MONDO:0865545 indolent b-cell non-hodgkin lymphoma GARD:21244 MONDO:equivalentTo Indolent B-cell non-Hodgkin lymphoma -MONDO:0865546 aggressive b-cell non-hodgkin lymphoma GARD:21245 MONDO:equivalentTo Aggressive B-cell non-Hodgkin lymphoma -MONDO:0865547 diffuse large b-cell lymphoma of the central nervous system GARD:21246 MONDO:equivalentTo Diffuse large B-cell lymphoma of the central nervous system -MONDO:0865548 primary cutaneous anaplastic large cell lymphoma GARD:21247 MONDO:equivalentTo Primary cutaneous anaplastic large cell lymphoma -MONDO:0865549 splenic diffuse red pulp small b-cell lymphoma GARD:21248 MONDO:equivalentTo Splenic diffuse red pulp small B-cell lymphoma -MONDO:0865550 hairy cell leukemia variant GARD:21249 MONDO:equivalentTo Hairy cell leukemia variant -MONDO:0865551 glycogen storage disease due to muscle beta-enolase deficiency GARD:2125 MONDO:equivalentTo Glycogen storage disease due to muscle beta-enolase deficiency -MONDO:0865552 diffuse large b-cell lymphoma with chronic inflammation GARD:21250 MONDO:equivalentTo Diffuse large B-cell lymphoma with chronic inflammation -MONDO:0865553 alk-positive anaplastic large cell lymphoma GARD:21251 MONDO:equivalentTo ALK-positive anaplastic large cell lymphoma -MONDO:0865554 alk-negative anaplastic large cell lymphoma GARD:21252 MONDO:equivalentTo ALK-negative anaplastic large cell lymphoma -MONDO:0865555 pituitary tumor GARD:21253 MONDO:equivalentTo Pituitary tumor -MONDO:0865556 primary hypomagnesemia with hypercalciuria and nephrocalcinosis GARD:21254 MONDO:equivalentTo Primary hypomagnesemia with hypercalciuria and nephrocalcinosis -MONDO:0865557 myospherulosis GARD:21255 MONDO:equivalentTo Myospherulosis -MONDO:0865558 rare tumor of gallbladder and extrahepatic biliary tract GARD:21256 MONDO:equivalentTo Rare tumor of gallbladder and extrahepatic biliary tract -MONDO:0865559 rare tumor of liver and intrahepatic biliary tract GARD:21257 MONDO:equivalentTo Rare tumor of liver and intrahepatic biliary tract -MONDO:0865560 rare intoxication due to medical products GARD:21258 MONDO:equivalentTo Rare intoxication due to medical products -MONDO:0865561 complication after organ transplantation GARD:21259 MONDO:equivalentTo Complication after organ transplantation -MONDO:0865562 non-infectious anterior uveitis GARD:21260 MONDO:equivalentTo Non-infectious anterior uveitis -MONDO:0865563 rare parkinsonian syndrome due to neurodegenerative disease GARD:21261 MONDO:equivalentTo Rare parkinsonian syndrome due to neurodegenerative disease -MONDO:0865564 hemiparkinsonism-hemiatrophy syndrome GARD:21262 MONDO:equivalentTo Hemiparkinsonism-hemiatrophy syndrome -MONDO:0865565 rare parkinsonian syndrome due to intoxication GARD:21263 MONDO:equivalentTo Rare parkinsonian syndrome due to intoxication -MONDO:0865566 manganese poisoning GARD:21264 MONDO:equivalentTo Manganese poisoning -MONDO:0865567 delayed encephalopathy due to carbon monoxide poisoning GARD:21265 MONDO:equivalentTo Delayed encephalopathy due to carbon monoxide poisoning -MONDO:0865568 cyanide-induced parkinsonism-dystonia GARD:21266 MONDO:equivalentTo Cyanide-induced parkinsonism-dystonia -MONDO:0865569 miscellaneous movement disorder due to neurodegenerative disease GARD:21267 MONDO:equivalentTo Miscellaneous movement disorder due to neurodegenerative disease -MONDO:0865570 frontotemporal neurodegeneration with movement disorder GARD:21268 MONDO:equivalentTo Frontotemporal neurodegeneration with movement disorder -MONDO:0865571 rare tremor disorder GARD:21269 MONDO:equivalentTo Rare tremor disorder -MONDO:0865572 rare choreic movement disorder GARD:21270 MONDO:equivalentTo Rare choreic movement disorder -MONDO:0865573 neurodegenerative disease with chorea GARD:21271 MONDO:equivalentTo Neurodegenerative disease with chorea -MONDO:0865574 postinfectious autoimmune disease with chorea GARD:21272 MONDO:equivalentTo Postinfectious autoimmune disease with chorea -MONDO:0865575 hemidystonia-hemiatrophy syndrome GARD:21273 MONDO:equivalentTo Hemidystonia-hemiatrophy syndrome -MONDO:0865576 rare myoclonus GARD:21274 MONDO:equivalentTo Rare myoclonus -MONDO:0865577 primary myoclonus GARD:21275 MONDO:equivalentTo Primary myoclonus -MONDO:0865578 rare disease with myoclonus as a major feature GARD:21276 MONDO:equivalentTo Rare disease with myoclonus as a major feature -MONDO:0865579 epilepsy and/or ataxia with myoclonus as a major feature GARD:21277 MONDO:equivalentTo Epilepsy and/or ataxia with myoclonus as a major feature -MONDO:0865580 non progressive epilepsy and/or ataxia with myoclonus as a major feature GARD:21278 MONDO:equivalentTo Non progressive epilepsy and/or ataxia with myoclonus as a major feature -MONDO:0865581 motor stereotypies GARD:21279 MONDO:equivalentTo Motor stereotypies -MONDO:0865582 rare paroxysmal movement disorder GARD:21280 MONDO:equivalentTo Rare paroxysmal movement disorder -MONDO:0865583 hyperekplexia GARD:21281 MONDO:equivalentTo Hyperekplexia -MONDO:0865584 sporadic hyperekplexia GARD:21282 MONDO:equivalentTo Sporadic hyperekplexia -MONDO:0865585 rare genetic parkinsonian disorder GARD:21283 MONDO:equivalentTo Rare genetic parkinsonian disorder -MONDO:0865586 rare parkinsonian syndrome due to genetic neurodegenerative disease GARD:21284 MONDO:equivalentTo Rare parkinsonian syndrome due to genetic neurodegenerative disease -MONDO:0865587 miscellaneous movement disorder due to genetic neurodegenerative disease GARD:21285 MONDO:equivalentTo Miscellaneous movement disorder due to genetic neurodegenerative disease -MONDO:0865588 rare genetic tremor disorder GARD:21286 MONDO:equivalentTo Rare genetic tremor disorder -MONDO:0865589 rare genetic myoclonus GARD:21287 MONDO:equivalentTo Rare genetic myoclonus -MONDO:0865590 rare genetic disease with myoclonus as a major feature GARD:21288 MONDO:equivalentTo Rare genetic disease with myoclonus as a major feature -MONDO:0865591 diffuse palmoplantar keratoderma GARD:21289 MONDO:equivalentTo Diffuse palmoplantar keratoderma -MONDO:0865592 isolated diffuse palmoplantar keratoderma GARD:21290 MONDO:equivalentTo Isolated diffuse palmoplantar keratoderma -MONDO:0865593 disease with diffuse palmoplantar keratoderma as a major feature GARD:21291 MONDO:equivalentTo Disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0865594 autosomal dominant diffuse mutilating palmoplantar keratoderma GARD:21292 MONDO:equivalentTo Autosomal dominant diffuse mutilating palmoplantar keratoderma -MONDO:0865595 autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature GARD:21293 MONDO:equivalentTo Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -MONDO:0865596 focal palmoplantar keratoderma GARD:21294 MONDO:equivalentTo Focal palmoplantar keratoderma -MONDO:0865597 isolated focal palmoplantar keratoderma GARD:21295 MONDO:equivalentTo Isolated focal palmoplantar keratoderma -MONDO:0865598 disease with focal palmoplantar keratoderma as a major feature GARD:21296 MONDO:equivalentTo Disease with focal palmoplantar keratoderma as a major feature -MONDO:0865599 punctate palmoplantar keratoderma GARD:21297 MONDO:equivalentTo Punctate palmoplantar keratoderma -MONDO:0865600 marginal papular palmoplantar keratoderma GARD:21298 MONDO:equivalentTo Marginal papular palmoplantar keratoderma -MONDO:0865601 focal acral hyperkeratosis GARD:21299 MONDO:equivalentTo Focal acral hyperkeratosis -MONDO:0865602 axial mesodermal dysplasia spectrum GARD:213 MONDO:equivalentTo Axial mesodermal dysplasia spectrum -MONDO:0865603 congenital enterovirus infection GARD:2130 MONDO:equivalentTo Congenital enterovirus infection -MONDO:0865604 disease with punctate palmoplantar keratoderma as a major feature GARD:21300 MONDO:equivalentTo Disease with punctate palmoplantar keratoderma as a major feature -MONDO:0865605 autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature GARD:21301 MONDO:equivalentTo Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature -MONDO:0865606 autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature GARD:21302 MONDO:equivalentTo Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature -MONDO:0865607 disorder of beta and omega amino acid metabolism GARD:21303 MONDO:equivalentTo Disorder of beta and omega amino acid metabolism -MONDO:0865608 aminoacylase deficiency GARD:21304 MONDO:equivalentTo Aminoacylase deficiency -MONDO:0865609 disorder of neutral amino acid transport GARD:21305 MONDO:equivalentTo Disorder of neutral amino acid transport -MONDO:0865610 disorder of glycolysis GARD:21306 MONDO:equivalentTo Disorder of glycolysis -MONDO:0865611 disorder of fructose metabolism GARD:21307 MONDO:equivalentTo Disorder of fructose metabolism -MONDO:0865612 disorder of galactose metabolism GARD:21308 MONDO:equivalentTo Disorder of galactose metabolism -MONDO:0865613 glycogen storage disease due to glycogen synthase deficiency GARD:21309 MONDO:equivalentTo Glycogen storage disease due to glycogen synthase deficiency -MONDO:0865614 glycogen storage disease due to acid maltase deficiency, infantile onset GARD:21310 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency, infantile onset -MONDO:0865615 glycerol kinase deficiency GARD:21311 MONDO:equivalentTo Glycerol kinase deficiency -MONDO:0865616 disorder of glyoxylate metabolism GARD:21312 MONDO:equivalentTo Disorder of glyoxylate metabolism -MONDO:0865617 disorder of carbohydrate absorption and transport GARD:21313 MONDO:equivalentTo Disorder of carbohydrate absorption and transport -MONDO:0865618 disorder of lipid metabolism GARD:21314 MONDO:equivalentTo Disorder of lipid metabolism -MONDO:0865619 mevalonate kinase deficiency GARD:21315 MONDO:equivalentTo Mevalonate kinase deficiency -MONDO:0865620 disorder of lipid absorption and transport GARD:21316 MONDO:equivalentTo Disorder of lipid absorption and transport -MONDO:0865621 disorder of fatty acid oxidation and ketogenesis GARD:21317 MONDO:equivalentTo Disorder of fatty acid oxidation and ketogenesis -MONDO:0865622 acyl-coa dehydrogenase deficiency GARD:21318 MONDO:equivalentTo Acyl-CoA dehydrogenase deficiency -MONDO:0865623 3-hydroxyacyl-coa dehydrogenase deficiency GARD:21319 MONDO:equivalentTo 3-hydroxyacyl-CoA dehydrogenase deficiency -MONDO:0865624 disorder of carnitine cycle and carnitine transport GARD:21320 MONDO:equivalentTo Disorder of carnitine cycle and carnitine transport -MONDO:0865625 metabolic disease due to other fatty acid oxidation disorder GARD:21321 MONDO:equivalentTo Metabolic disease due to other fatty acid oxidation disorder -MONDO:0865626 mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes GARD:21322 MONDO:equivalentTo Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -MONDO:0865627 gm2 gangliosidosis GARD:21323 MONDO:equivalentTo GM2 gangliosidosis -MONDO:0865628 tay-sachs disease, b variant, infantile form GARD:21324 MONDO:equivalentTo Tay-Sachs disease, B variant, infantile form -MONDO:0865629 tay-sachs disease, b variant, juvenile form GARD:21325 MONDO:equivalentTo Tay-Sachs disease, B variant, juvenile form -MONDO:0865630 tay-sachs disease, b variant, adult form GARD:21326 MONDO:equivalentTo Tay-Sachs disease, B variant, adult form -MONDO:0865631 tay-sachs disease, b1 variant GARD:21327 MONDO:equivalentTo Tay-Sachs disease, B1 variant -MONDO:0865632 metachromatic leukodystrophy, late infantile form GARD:21328 MONDO:equivalentTo Metachromatic leukodystrophy, late infantile form -MONDO:0865633 metachromatic leukodystrophy, juvenile form GARD:21329 MONDO:equivalentTo Metachromatic leukodystrophy, juvenile form -MONDO:0865634 metachromatic leukodystrophy, adult form GARD:21330 MONDO:equivalentTo Metachromatic leukodystrophy, adult form -MONDO:0865635 sialidosis GARD:21331 MONDO:equivalentTo Sialidosis -MONDO:0865636 disorder of sialic acid metabolism GARD:21332 MONDO:equivalentTo Disorder of sialic acid metabolism -MONDO:0865637 lysosomal glycogen storage disease GARD:21333 MONDO:equivalentTo Lysosomal glycogen storage disease -MONDO:0865638 disorder of lysosomal-related organelles GARD:21334 MONDO:equivalentTo Disorder of lysosomal-related organelles -MONDO:0865639 disorder of protein n-glycosylation GARD:21335 MONDO:equivalentTo Disorder of protein N-glycosylation -MONDO:0865640 disorder of protein o-glycosylation GARD:21336 MONDO:equivalentTo Disorder of protein O-glycosylation -MONDO:0865641 disorder of o-xylosylglycan synthesis GARD:21337 MONDO:equivalentTo Disorder of O-xylosylglycan synthesis -MONDO:0865642 disorder of o-n-acetylgalactosaminylglycan synthesis GARD:21338 MONDO:equivalentTo Disorder of O-N-acetylgalactosaminylglycan synthesis -MONDO:0865643 disorder of o-xylosyl/n-acetylgalactosaminylglycan synthesis GARD:21339 MONDO:equivalentTo Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis -MONDO:0865644 disorder of o-mannosylglycan synthesis GARD:21340 MONDO:equivalentTo Disorder of O-mannosylglycan synthesis -MONDO:0865645 disorder of fucoglycosan synthesis GARD:21341 MONDO:equivalentTo Disorder of fucoglycosan synthesis -MONDO:0865646 disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation GARD:21342 MONDO:equivalentTo Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation -MONDO:0865647 disorder of multiple glycosylation GARD:21343 MONDO:equivalentTo Disorder of multiple glycosylation -MONDO:0865648 defect in conserved oligomeric golgi complex GARD:21344 MONDO:equivalentTo Defect in conserved oligomeric Golgi complex -MONDO:0865649 defect in v-atpase GARD:21345 MONDO:equivalentTo Defect in V-ATPase -MONDO:0865650 disorder of porphyrin and heme metabolism GARD:21346 MONDO:equivalentTo Disorder of porphyrin and heme metabolism -MONDO:0865651 disorder of bilirubin metabolism and excretion GARD:21347 MONDO:equivalentTo Disorder of bilirubin metabolism and excretion -MONDO:0865652 disorder of pterin metabolism GARD:21348 MONDO:equivalentTo Disorder of pterin metabolism -MONDO:0865653 disorder of metabolite absorption and transport GARD:21349 MONDO:equivalentTo Disorder of metabolite absorption and transport -MONDO:0865654 disorder of vitamin and non-protein cofactor absorption and transport GARD:21350 MONDO:equivalentTo Disorder of vitamin and non-protein cofactor absorption and transport -MONDO:0865655 disorder of catecholamine synthesis GARD:21351 MONDO:equivalentTo Disorder of catecholamine synthesis -MONDO:0865656 disorder of other vitamins and cofactors metabolism and transport GARD:21352 MONDO:equivalentTo Disorder of other vitamins and cofactors metabolism and transport -MONDO:0865657 disorder of mineral absorption and transport GARD:21353 MONDO:equivalentTo Disorder of mineral absorption and transport -MONDO:0865658 disorder of copper metabolism GARD:21354 MONDO:equivalentTo Disorder of copper metabolism -MONDO:0865659 disorder of iron metabolism and transport GARD:21355 MONDO:equivalentTo Disorder of iron metabolism and transport -MONDO:0865660 disorder of zinc metabolism and transport GARD:21356 MONDO:equivalentTo Disorder of zinc metabolism and transport -MONDO:0865661 disorder of magnesium transport GARD:21357 MONDO:equivalentTo Disorder of magnesium transport -MONDO:0865662 disorder of manganese transport GARD:21358 MONDO:equivalentTo Disorder of manganese transport -MONDO:0865663 acquired immunodeficiency GARD:21359 MONDO:equivalentTo Acquired immunodeficiency -MONDO:0865664 20p13 microdeletion syndrome GARD:21360 MONDO:equivalentTo 20p13 microdeletion syndrome -MONDO:0865665 congenital pancreatic cyst GARD:21361 MONDO:equivalentTo Congenital pancreatic cyst -MONDO:0865666 epstein-barr virus-associated gastric carcinoma GARD:21362 MONDO:equivalentTo Epstein-Barr virus-associated gastric carcinoma -MONDO:0865667 2q23.1 microduplication syndrome GARD:21363 MONDO:equivalentTo 2q23.1 microduplication syndrome -MONDO:0865668 contractures-webbed neck-micrognathia-hypoplastic nipples syndrome GARD:21364 MONDO:equivalentTo Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome -MONDO:0865669 idiopathic linear interstitial keratitis GARD:21365 MONDO:equivalentTo Idiopathic linear interstitial keratitis -MONDO:0865670 high bone mass osteogenesis imperfecta GARD:21366 MONDO:equivalentTo High bone mass osteogenesis imperfecta -MONDO:0865671 7p22.1 microduplication syndrome GARD:21367 MONDO:equivalentTo 7p22.1 microduplication syndrome -MONDO:0865672 marfanoid habitus-inguinal hernia-advanced bone age syndrome GARD:21368 MONDO:equivalentTo Marfanoid habitus-inguinal hernia-advanced bone age syndrome -MONDO:0865673 xq12-q13.3 duplication syndrome GARD:21369 MONDO:equivalentTo Xq12-q13.3 duplication syndrome -MONDO:0865674 epidermolysis bullosa simplex with muscular dystrophy GARD:2137 MONDO:equivalentTo Epidermolysis bullosa simplex with muscular dystrophy -MONDO:0865675 rare odontogenic tumor GARD:21370 MONDO:equivalentTo Rare odontogenic tumor -MONDO:0865676 spigelian hernia-cryptorchidism syndrome GARD:21371 MONDO:equivalentTo Spigelian hernia-cryptorchidism syndrome -MONDO:0865677 meigs syndrome GARD:21372 MONDO:equivalentTo Meigs syndrome -MONDO:0865678 pseudo-meigs syndrome GARD:21373 MONDO:equivalentTo Pseudo-Meigs syndrome -MONDO:0865679 atypical meigs syndrome GARD:21374 MONDO:equivalentTo Atypical Meigs syndrome -MONDO:0865680 ovarian fibroma GARD:21375 MONDO:equivalentTo Ovarian fibroma -MONDO:0865681 ovarian fibrothecoma GARD:21376 MONDO:equivalentTo Ovarian fibrothecoma -MONDO:0865682 primary progressive apraxia of speech GARD:21377 MONDO:equivalentTo Primary progressive apraxia of speech -MONDO:0865683 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome GARD:21378 MONDO:equivalentTo Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome -MONDO:0865684 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome GARD:21379 MONDO:equivalentTo Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome -MONDO:0865685 growing teratoma syndrome GARD:21380 MONDO:equivalentTo Growing teratoma syndrome -MONDO:0865686 duplication of the pituitary gland GARD:21381 MONDO:equivalentTo Duplication of the pituitary gland -MONDO:0865687 variant abeta2m amyloidosis GARD:21382 MONDO:equivalentTo Variant ABeta2M amyloidosis -MONDO:0865688 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion GARD:21383 MONDO:equivalentTo Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion -MONDO:0865689 segmental progressive overgrowth syndrome with fibroadipose hyperplasia GARD:21384 MONDO:equivalentTo Segmental progressive overgrowth syndrome with fibroadipose hyperplasia -MONDO:0865690 primary bone lymphoma GARD:21385 MONDO:equivalentTo Primary bone lymphoma -MONDO:0865691 acquired porencephaly GARD:21386 MONDO:equivalentTo Acquired porencephaly -MONDO:0865692 primary localized amyloidosis GARD:21387 MONDO:equivalentTo Primary localized amyloidosis -MONDO:0865693 rare disease with cushing syndrome as a major feature GARD:21388 MONDO:equivalentTo Rare disease with Cushing syndrome as a major feature -MONDO:0865694 functioning pituitary adenoma GARD:21389 MONDO:equivalentTo Functioning pituitary adenoma -MONDO:0865695 autosomal dominant generalized dystrophic epidermolysis bullosa GARD:2139 MONDO:equivalentTo Autosomal dominant generalized dystrophic epidermolysis bullosa -MONDO:0865696 mixed functioning pituitary adenoma GARD:21390 MONDO:equivalentTo Mixed functioning pituitary adenoma -MONDO:0865697 somatomammotropinoma GARD:21391 MONDO:equivalentTo Somatomammotropinoma -MONDO:0865698 silent pituitary adenoma GARD:21392 MONDO:equivalentTo Silent pituitary adenoma -MONDO:0865699 null pituitary adenoma GARD:21393 MONDO:equivalentTo Null pituitary adenoma -MONDO:0865700 autosomal dominant proximal renal tubular acidosis GARD:21394 MONDO:equivalentTo Autosomal dominant proximal renal tubular acidosis -MONDO:0865701 primary hypereosinophilic syndrome GARD:21395 MONDO:equivalentTo Primary hypereosinophilic syndrome -MONDO:0865702 secondary hypereosinophilic syndrome GARD:21396 MONDO:equivalentTo Secondary hypereosinophilic syndrome -MONDO:0865703 lymphocytic hypereosinophilic syndrome GARD:21397 MONDO:equivalentTo Lymphocytic hypereosinophilic syndrome -MONDO:0865704 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form GARD:21398 MONDO:equivalentTo Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form -MONDO:0865705 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form GARD:21399 MONDO:equivalentTo Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form -MONDO:0865706 autoimmune disease with skin involvement GARD:21400 MONDO:equivalentTo Autoimmune disease with skin involvement -MONDO:0865707 spastic ataxia GARD:21401 MONDO:equivalentTo Spastic ataxia -MONDO:0865708 autosomal dominant spastic ataxia GARD:21402 MONDO:equivalentTo Autosomal dominant spastic ataxia -MONDO:0865709 autosomal recessive spastic ataxia GARD:21403 MONDO:equivalentTo Autosomal recessive spastic ataxia -MONDO:0865710 partial deletion of the short arm of chromosome 12 GARD:21404 MONDO:equivalentTo Partial deletion of the short arm of chromosome 12 -MONDO:0865711 t-b+ severe combined immunodeficiency GARD:21405 MONDO:equivalentTo T-B+ severe combined immunodeficiency -MONDO:0865712 t-b- severe combined immunodeficiency GARD:21406 MONDO:equivalentTo T-B- severe combined immunodeficiency -MONDO:0865713 diencephalic-mesencephalic junction dysplasia GARD:21407 MONDO:equivalentTo Diencephalic-mesencephalic junction dysplasia -MONDO:0865714 chondroectodermal dysplasia with night blindness GARD:21408 MONDO:equivalentTo Chondroectodermal dysplasia with night blindness -MONDO:0865715 bilateral massive adrenal hemorrhage GARD:21409 MONDO:equivalentTo Bilateral massive adrenal hemorrhage -MONDO:0865716 autosomal dominant generalized epidermolysis bullosa simplex, severe form GARD:2141 MONDO:equivalentTo Autosomal dominant generalized epidermolysis bullosa simplex, severe form -MONDO:0865717 lujo hemorrhagic fever GARD:21410 MONDO:equivalentTo Lujo hemorrhagic fever -MONDO:0865718 argentine hemorrhagic fever GARD:21411 MONDO:equivalentTo Argentine hemorrhagic fever -MONDO:0865719 bolivian hemorrhagic fever GARD:21412 MONDO:equivalentTo Bolivian hemorrhagic fever -MONDO:0865720 venezuelan hemorrhagic fever GARD:21413 MONDO:equivalentTo Venezuelan hemorrhagic fever -MONDO:0865721 brazilian hemorrhagic fever GARD:21414 MONDO:equivalentTo Brazilian hemorrhagic fever -MONDO:0865722 chapare hemorrhagic fever GARD:21415 MONDO:equivalentTo Chapare hemorrhagic fever -MONDO:0865723 rift valley fever GARD:21416 MONDO:equivalentTo Rift valley fever -MONDO:0865724 multilocular cystic renal neoplasm of low malignant potential GARD:21417 MONDO:equivalentTo Multilocular cystic renal neoplasm of low malignant potential -MONDO:0865725 mucinous tubular and spindle cell renal carcinoma GARD:21418 MONDO:equivalentTo Mucinous tubular and spindle cell renal carcinoma -MONDO:0865726 tubulocystic renal cell carcinoma GARD:21419 MONDO:equivalentTo Tubulocystic renal cell carcinoma -MONDO:0865727 inherited renal cancer-predisposing syndrome GARD:21420 MONDO:equivalentTo Inherited renal cancer-predisposing syndrome -MONDO:0865728 familial nonmedullary thyroid carcinoma GARD:21421 MONDO:equivalentTo Familial nonmedullary thyroid carcinoma -MONDO:0865729 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency GARD:21422 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency -MONDO:0865730 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency GARD:21423 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency -MONDO:0865731 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency GARD:21424 MONDO:equivalentTo Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency -MONDO:0865732 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency GARD:21425 MONDO:equivalentTo Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency -MONDO:0865733 primary lymphoma of the conjunctiva GARD:21426 MONDO:equivalentTo Primary lymphoma of the conjunctiva -MONDO:0865734 autoinflammatory syndrome of childhood GARD:21427 MONDO:equivalentTo Autoinflammatory syndrome of childhood -MONDO:0865735 x-linked pure spastic paraplegia GARD:21428 MONDO:equivalentTo X-linked pure spastic paraplegia -MONDO:0865736 pure or complex hereditary spastic paraplegia GARD:21429 MONDO:equivalentTo Pure or complex hereditary spastic paraplegia -MONDO:0865737 junctional epidermolysis bullosa inversa GARD:2143 MONDO:equivalentTo Junctional epidermolysis bullosa inversa -MONDO:0865738 pure or complex autosomal dominant spastic paraplegia GARD:21430 MONDO:equivalentTo Pure or complex autosomal dominant spastic paraplegia -MONDO:0865739 pure or complex autosomal recessive spastic paraplegia GARD:21431 MONDO:equivalentTo Pure or complex autosomal recessive spastic paraplegia -MONDO:0865740 pure or complex x-linked spastic paraplegia GARD:21432 MONDO:equivalentTo Pure or complex X-linked spastic paraplegia -MONDO:0865741 mt-atp6-related mitochondrial spastic paraplegia GARD:21433 MONDO:equivalentTo MT-ATP6-related mitochondrial spastic paraplegia -MONDO:0865742 genetic tumor of hematopoietic and lymphoid tissues GARD:21434 MONDO:equivalentTo Genetic tumor of hematopoietic and lymphoid tissues -MONDO:0865743 multiple paragangliomas associated with polycythemia GARD:21435 MONDO:equivalentTo Multiple paragangliomas associated with polycythemia -MONDO:0865744 severe lateral tibial bowing with short stature GARD:21436 MONDO:equivalentTo Severe lateral tibial bowing with short stature -MONDO:0865745 9p13 microdeletion syndrome GARD:21437 MONDO:equivalentTo 9p13 microdeletion syndrome -MONDO:0865746 congenital achiasma GARD:21438 MONDO:equivalentTo Congenital achiasma -MONDO:0865747 mixed sclerosing bone dystrophy with extra-skeletal manifestations GARD:21439 MONDO:equivalentTo Mixed sclerosing bone dystrophy with extra-skeletal manifestations -MONDO:0865748 hereditary inclusion body myopathy type 4 GARD:21440 MONDO:equivalentTo Hereditary inclusion body myopathy type 4 -MONDO:0865749 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome GARD:21441 MONDO:equivalentTo Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome -MONDO:0865750 hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial dna mutation GARD:21442 MONDO:equivalentTo Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation -MONDO:0865751 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome GARD:21443 MONDO:equivalentTo Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome -MONDO:0865752 hyperinsulinism due to hnf1a deficiency GARD:21444 MONDO:equivalentTo Hyperinsulinism due to HNF1A deficiency -MONDO:0865753 benign samaritan congenital myopathy GARD:21445 MONDO:equivalentTo Benign Samaritan congenital myopathy -MONDO:0865754 autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain GARD:21446 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain -MONDO:0865755 autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation GARD:21447 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation -MONDO:0865756 hendra virus infection GARD:21448 MONDO:equivalentTo Hendra virus infection -MONDO:0865757 invasive non-typhoidal salmonellosis GARD:21449 MONDO:equivalentTo Invasive non-typhoidal salmonellosis -MONDO:0865758 microcephalic primordial dwarfism GARD:21450 MONDO:equivalentTo Microcephalic primordial dwarfism -MONDO:0865759 trichorhinophalangeal syndrome GARD:21451 MONDO:equivalentTo Trichorhinophalangeal syndrome -MONDO:0865760 non-familial rare disease with dilated cardiomyopathy GARD:21452 MONDO:equivalentTo Non-familial rare disease with dilated cardiomyopathy -MONDO:0865761 hereditary periodic fever syndrome GARD:21453 MONDO:equivalentTo Hereditary periodic fever syndrome -MONDO:0865762 pyogenic autoinflammatory syndrome GARD:21454 MONDO:equivalentTo Pyogenic autoinflammatory syndrome -MONDO:0865763 granulomatous autoinflammatory syndrome GARD:21455 MONDO:equivalentTo Granulomatous autoinflammatory syndrome -MONDO:0865764 mixed autoinflammatory and autoimmune syndrome GARD:21456 MONDO:equivalentTo Mixed autoinflammatory and autoimmune syndrome -MONDO:0865765 unclassified autoinflammatory syndrome GARD:21457 MONDO:equivalentTo Unclassified autoinflammatory syndrome -MONDO:0865766 periodic fever syndrome of childhood GARD:21458 MONDO:equivalentTo Periodic fever syndrome of childhood -MONDO:0865767 pyogenic autoinflammatory syndrome of childhood GARD:21459 MONDO:equivalentTo Pyogenic autoinflammatory syndrome of childhood -MONDO:0865768 localized epidermolysis bullosa simplex GARD:2146 MONDO:equivalentTo Localized epidermolysis bullosa simplex -MONDO:0865769 granulomatous autoinflammatory syndrome of childhood GARD:21460 MONDO:equivalentTo Granulomatous autoinflammatory syndrome of childhood -MONDO:0865770 unclassified autoinflammatory syndrome of childhood GARD:21461 MONDO:equivalentTo Unclassified autoinflammatory syndrome of childhood -MONDO:0865771 unexplained periodic fever syndrome of childhood GARD:21462 MONDO:equivalentTo Unexplained periodic fever syndrome of childhood -MONDO:0865772 46,xx disorder of gonadal development GARD:21463 MONDO:equivalentTo 46,XX disorder of gonadal development -MONDO:0865773 46,xx disorder of sex development induced by fetoplacental androgens excess GARD:21464 MONDO:equivalentTo 46,XX disorder of sex development induced by fetoplacental androgens excess -MONDO:0865774 46,xx disorder of sex development induced by endogenous maternal-derived androgen GARD:21465 MONDO:equivalentTo 46,XX disorder of sex development induced by endogenous maternal-derived androgen -MONDO:0865775 46,xx disorder of sex development induced by exogenous maternal-derived androgen GARD:21466 MONDO:equivalentTo 46,XX disorder of sex development induced by exogenous maternal-derived androgen -MONDO:0865776 syndrome with 46,xx disorder of sex development GARD:21467 MONDO:equivalentTo Syndrome with 46,XX disorder of sex development -MONDO:0865777 46,xy disorder of gonadal development GARD:21468 MONDO:equivalentTo 46,XY disorder of gonadal development -MONDO:0865778 46,xy ovotesticular disorder of sex development GARD:21469 MONDO:equivalentTo 46,XY ovotesticular disorder of sex development -MONDO:0865779 autosomal dominant generalized epidermolysis bullosa simplex, intermediate form GARD:2147 MONDO:equivalentTo Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form -MONDO:0865780 46,xy disorder of sex development of endocrine origin GARD:21470 MONDO:equivalentTo 46,XY disorder of sex development of endocrine origin -MONDO:0865781 46,xy disorder of sex development due to impaired androgen production GARD:21471 MONDO:equivalentTo 46,XY disorder of sex development due to impaired androgen production -MONDO:0865782 46,xy disorder of sex development due to a cholesterol synthesis defect GARD:21472 MONDO:equivalentTo 46,XY disorder of sex development due to a cholesterol synthesis defect -MONDO:0865783 classic congenital lipoid adrenal hyperplasia due to star deficency GARD:21473 MONDO:equivalentTo Classic congenital lipoid adrenal hyperplasia due to STAR deficency -MONDO:0865784 non-classic congenital lipoid adrenal hyperplasia due to star deficency GARD:21474 MONDO:equivalentTo Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency -MONDO:0865785 46,xy disorder of sex development induced by maternal exposure to endocrine disruptors GARD:21475 MONDO:equivalentTo 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors -MONDO:0865786 sex chromosome disorder of sex development GARD:21476 MONDO:equivalentTo Sex chromosome disorder of sex development -MONDO:0865787 disorder of sex development of gynecological interest GARD:21477 MONDO:equivalentTo Disorder of sex development of gynecological interest -MONDO:0865788 46,xy disorder of sex development of gynecological interest GARD:21478 MONDO:equivalentTo 46,XY disorder of sex development of gynecological interest -MONDO:0865789 syndrome with disorder of sex development of gynecological interest GARD:21479 MONDO:equivalentTo Syndrome with disorder of sex development of gynecological interest -MONDO:0865790 plec-related intermediate epidermolysis bullosa simplex without extracutaneous involvement GARD:2148 MONDO:equivalentTo PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement -MONDO:0865791 genetic disorder of sex development of gynecological interest GARD:21480 MONDO:equivalentTo Genetic disorder of sex development of gynecological interest -MONDO:0865792 genetic disorder of sex development GARD:21481 MONDO:equivalentTo Genetic disorder of sex development -MONDO:0865793 genetic 46,xx disorder of sex development GARD:21482 MONDO:equivalentTo Genetic 46,XX disorder of sex development -MONDO:0865794 genetic 46,xy disorder of sex development GARD:21483 MONDO:equivalentTo Genetic 46,XY disorder of sex development -MONDO:0865795 genetic 46,xy disorder of sex development of endocrine origin GARD:21484 MONDO:equivalentTo Genetic 46,XY disorder of sex development of endocrine origin -MONDO:0865796 cerebral sinovenous thrombosis GARD:21485 MONDO:equivalentTo Cerebral sinovenous thrombosis -MONDO:0865797 severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency GARD:21486 MONDO:equivalentTo Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency -MONDO:0865798 thrombocythemia with distal limb defects GARD:21487 MONDO:equivalentTo Thrombocythemia with distal limb defects -MONDO:0865799 inverse klippel-trénaunay syndrome GARD:21488 MONDO:equivalentTo Inverse Klippel-Trénaunay syndrome -MONDO:0865800 autosomal recessive frontotemporal pachygyria GARD:21489 MONDO:equivalentTo Autosomal recessive frontotemporal pachygyria -MONDO:0865801 acute megakaryoblastic leukemia without down syndrome GARD:21490 MONDO:equivalentTo Acute megakaryoblastic leukemia without Down syndrome -MONDO:0865802 spastic paraplegia-paget disease of bone syndrome GARD:21491 MONDO:equivalentTo Spastic paraplegia-Paget disease of bone syndrome -MONDO:0865803 adult-onset distal myopathy due to vcp mutation GARD:21492 MONDO:equivalentTo Adult-onset distal myopathy due to VCP mutation -MONDO:0865804 mosaic genome-wide paternal uniparental disomy GARD:21493 MONDO:equivalentTo Mosaic genome-wide paternal uniparental disomy -MONDO:0865805 idiopathic giant cell myocarditis GARD:21494 MONDO:equivalentTo Idiopathic giant cell myocarditis -MONDO:0865806 non-hypoproteinemic hypertrophic gastropathy GARD:21495 MONDO:equivalentTo Non-hypoproteinemic hypertrophic gastropathy -MONDO:0865807 juvenile idiopathic inflammatory myopathy GARD:21496 MONDO:equivalentTo Juvenile idiopathic inflammatory myopathy -MONDO:0865808 juvenile overlap myositis GARD:21497 MONDO:equivalentTo Juvenile overlap myositis -MONDO:0865809 transient neonatal multiple acyl-coa dehydrogenase deficiency GARD:21498 MONDO:equivalentTo Transient neonatal multiple acyl-CoA dehydrogenase deficiency -MONDO:0865810 intermittent hydrarthrosis GARD:21499 MONDO:equivalentTo Intermittent hydrarthrosis -MONDO:0865811 familial caudal dysgenesis GARD:215 MONDO:equivalentTo Familial caudal dysgenesis -MONDO:0865812 dystrophic epidermolysis bullosa GARD:2150 MONDO:equivalentTo Dystrophic epidermolysis bullosa -MONDO:0865813 classic neuroendocrine tumor of appendix GARD:21500 MONDO:equivalentTo Classic neuroendocrine tumor of appendix -MONDO:0865814 wild type attr amyloidosis GARD:21501 MONDO:equivalentTo Wild type ATTR amyloidosis -MONDO:0865815 high altitude pulmonary edema GARD:21502 MONDO:equivalentTo High altitude pulmonary edema -MONDO:0865816 lead poisoning GARD:21503 MONDO:equivalentTo Lead poisoning -MONDO:0865817 hypotrichosis-deafness syndrome GARD:21504 MONDO:equivalentTo Hypotrichosis-deafness syndrome -MONDO:0865818 hemoglobin lepore-beta-thalassemia syndrome GARD:21505 MONDO:equivalentTo Hemoglobin Lepore-beta-thalassemia syndrome -MONDO:0865819 chronic actinic dermatitis GARD:21506 MONDO:equivalentTo Chronic actinic dermatitis -MONDO:0865820 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability GARD:21507 MONDO:equivalentTo Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0865821 constitutional neutropenia with extra-hematopoietic manifestations GARD:21508 MONDO:equivalentTo Constitutional neutropenia with extra-hematopoietic manifestations -MONDO:0865822 other immunodeficiency syndromes due to defects in innate immunity GARD:21509 MONDO:equivalentTo Other immunodeficiency syndromes due to defects in innate immunity -MONDO:0865823 syndrome with combined immunodeficiency GARD:21510 MONDO:equivalentTo Syndrome with combined immunodeficiency -MONDO:0865824 immunodeficiency due to absence of thymus GARD:21511 MONDO:equivalentTo Immunodeficiency due to absence of thymus -MONDO:0865825 immunodeficiency with isotype or light chain deficiencies with normal number of b-cells GARD:21512 MONDO:equivalentTo Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells -MONDO:0865826 immunodeficiency with severe reduction in serum igg and iga with normal/elevated igm and normal number of b-cells GARD:21513 MONDO:equivalentTo Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells -MONDO:0865827 other immunodeficiency syndrome with predominantly antibody defects GARD:21514 MONDO:equivalentTo Other immunodeficiency syndrome with predominantly antibody defects -MONDO:0865828 immunodeficiency syndrome with hypopigmentation GARD:21515 MONDO:equivalentTo Immunodeficiency syndrome with hypopigmentation -MONDO:0865829 disorder of phospholipids, sphingolipids and fatty acids biosynthesis GARD:21516 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis -MONDO:0865830 disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement GARD:21517 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0865831 disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement GARD:21518 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement -MONDO:0865832 disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement GARD:21519 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement -MONDO:0865833 junctional epidermolysis bullosa GARD:2152 MONDO:equivalentTo Junctional epidermolysis bullosa -MONDO:0865834 mitochondrial dna maintenance syndrome GARD:21520 MONDO:equivalentTo Mitochondrial DNA maintenance syndrome -MONDO:0865835 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome GARD:21521 MONDO:equivalentTo Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome -MONDO:0865836 focal epilepsy-intellectual disability-cerebro-cerebellar malformation GARD:21522 MONDO:equivalentTo Focal epilepsy-intellectual disability-cerebro-cerebellar malformation -MONDO:0865837 16q24.1 microdeletion syndrome GARD:21523 MONDO:equivalentTo 16q24.1 microdeletion syndrome -MONDO:0865838 phalangeal microgeodic syndrome GARD:21524 MONDO:equivalentTo Phalangeal microgeodic syndrome -MONDO:0865839 autosomal recessive cerebellar ataxia with late-onset spasticity GARD:21525 MONDO:equivalentTo Autosomal recessive cerebellar ataxia with late-onset spasticity -MONDO:0865840 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion GARD:21526 MONDO:equivalentTo Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion -MONDO:0865841 attenuated chédiak-higashi syndrome GARD:21527 MONDO:equivalentTo Attenuated Chédiak-Higashi syndrome -MONDO:0865842 disorder of melanin metabolism GARD:21528 MONDO:equivalentTo Disorder of melanin metabolism -MONDO:0865843 minimal pigment oculocutaneous albinism type 1 GARD:21529 MONDO:equivalentTo Minimal pigment oculocutaneous albinism type 1 -MONDO:0865844 severe generalized junctional epidermolysis bullosa GARD:2153 MONDO:equivalentTo Severe generalized junctional epidermolysis bullosa -MONDO:0865845 congenital retinal arteriovenous communication GARD:21530 MONDO:equivalentTo Congenital retinal arteriovenous communication -MONDO:0865846 idiopathic macular telangiectasia type 1 GARD:21531 MONDO:equivalentTo Idiopathic macular telangiectasia type 1 -MONDO:0865847 idiopathic macular telangiectasia type 3 GARD:21532 MONDO:equivalentTo Idiopathic macular telangiectasia type 3 -MONDO:0865848 vasoproliferative tumor of the retina GARD:21533 MONDO:equivalentTo Vasoproliferative tumor of the retina -MONDO:0865849 3q26q27 microdeletion syndrome GARD:21534 MONDO:equivalentTo 3q26q27 microdeletion syndrome -MONDO:0865850 arterial thoracic outlet syndrome GARD:21535 MONDO:equivalentTo Arterial thoracic outlet syndrome -MONDO:0865851 venous thoracic outlet syndrome GARD:21536 MONDO:equivalentTo Venous thoracic outlet syndrome -MONDO:0865852 primary essential cutis verticis gyrata GARD:21537 MONDO:equivalentTo Primary essential cutis verticis gyrata -MONDO:0865853 primary non-essential cutis verticis gyrata GARD:21538 MONDO:equivalentTo Primary non-essential cutis verticis gyrata -MONDO:0865854 idiopathic nephrotic syndrome GARD:21539 MONDO:equivalentTo Idiopathic nephrotic syndrome -MONDO:0865855 genetic non-syndromic renal or urinary tract malformation GARD:21540 MONDO:equivalentTo Genetic non-syndromic renal or urinary tract malformation -MONDO:0865856 congenital anomaly of the great veins GARD:21541 MONDO:equivalentTo Congenital anomaly of the great veins -MONDO:0865857 ring chromosome GARD:21542 MONDO:equivalentTo Ring chromosome -MONDO:0865858 genetic progeroid syndrome GARD:21543 MONDO:equivalentTo Genetic progeroid syndrome -MONDO:0865859 ciliopathy GARD:21544 MONDO:equivalentTo Ciliopathy -MONDO:0865860 genetic syndromic pierre robin syndrome GARD:21545 MONDO:equivalentTo Genetic syndromic Pierre Robin syndrome -MONDO:0865861 genetic intractable diarrhea of infancy GARD:21546 MONDO:equivalentTo Genetic intractable diarrhea of infancy -MONDO:0865862 genetic intestinal disease due to fat malabsorption GARD:21547 MONDO:equivalentTo Genetic intestinal disease due to fat malabsorption -MONDO:0865863 genetic intestinal polyposis GARD:21548 MONDO:equivalentTo Genetic intestinal polyposis -MONDO:0865864 tumor of testis and paratestis GARD:21549 MONDO:equivalentTo Tumor of testis and paratestis -MONDO:0865865 localized dystrophic epidermolysis bullosa, pretibial form GARD:2155 MONDO:equivalentTo Localized dystrophic epidermolysis bullosa, pretibial form -MONDO:0865866 paratesticular adenocarcinoma GARD:21550 MONDO:equivalentTo Paratesticular adenocarcinoma -MONDO:0865867 sex cord-stromal tumor of testis GARD:21551 MONDO:equivalentTo Sex cord-stromal tumor of testis -MONDO:0865868 acute encephalopathy with biphasic seizures and late reduced diffusion GARD:21552 MONDO:equivalentTo Acute encephalopathy with biphasic seizures and late reduced diffusion -MONDO:0865869 acute encephalopathy with inflammation-mediated status epilepticus GARD:21553 MONDO:equivalentTo Acute encephalopathy with inflammation-mediated status epilepticus -MONDO:0865870 gonadal germ cell tumor GARD:21554 MONDO:equivalentTo Gonadal germ cell tumor -MONDO:0865871 lmna-related cardiocutaneous progeria syndrome GARD:21555 MONDO:equivalentTo LMNA-related cardiocutaneous progeria syndrome -MONDO:0865872 20q11.2 microduplication syndrome GARD:21556 MONDO:equivalentTo 20q11.2 microduplication syndrome -MONDO:0865873 2p13.2 microdeletion syndrome GARD:21557 MONDO:equivalentTo 2p13.2 microdeletion syndrome -MONDO:0865874 balint syndrome GARD:21558 MONDO:equivalentTo Balint syndrome -MONDO:0865875 koolen-de vries syndrome due to a point mutation GARD:21559 MONDO:equivalentTo Koolen-De Vries syndrome due to a point mutation -MONDO:0865876 autosomal recessive cerebral atrophy GARD:21560 MONDO:equivalentTo Autosomal recessive cerebral atrophy -MONDO:0865877 immune hydrops fetalis GARD:21561 MONDO:equivalentTo Immune hydrops fetalis -MONDO:0865878 systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood GARD:21562 MONDO:equivalentTo Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood -MONDO:0865879 hydroa vacciniforme-like lymphoma GARD:21563 MONDO:equivalentTo Hydroa vacciniforme-like lymphoma -MONDO:0865880 alk-positive large b-cell lymphoma GARD:21564 MONDO:equivalentTo ALK-positive large B-cell lymphoma -MONDO:0865881 severe early-childhood-onset retinal dystrophy GARD:21565 MONDO:equivalentTo Severe early-childhood-onset retinal dystrophy -MONDO:0865882 bipartite talus GARD:21566 MONDO:equivalentTo Bipartite talus -MONDO:0865883 primary bone dysplasia GARD:21567 MONDO:equivalentTo Primary bone dysplasia -MONDO:0865884 primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments GARD:21568 MONDO:equivalentTo Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments -MONDO:0865885 primary bone dysplasia with micromelia GARD:21569 MONDO:equivalentTo Primary bone dysplasia with micromelia -MONDO:0865886 otopalatodigital syndrome spectrum disorder GARD:21570 MONDO:equivalentTo Otopalatodigital syndrome spectrum disorder -MONDO:0865887 dysostosis GARD:21571 MONDO:equivalentTo Dysostosis -MONDO:0865888 dysostosis with limb anomaly as a major feature GARD:21572 MONDO:equivalentTo Dysostosis with limb anomaly as a major feature -MONDO:0865889 dysostosis with limb and face anomalies as a major feature GARD:21573 MONDO:equivalentTo Dysostosis with limb and face anomalies as a major feature -MONDO:0865890 acrofacial dysostosis GARD:21574 MONDO:equivalentTo Acrofacial dysostosis -MONDO:0865891 rare bone disease related to a common gene or pathway defect GARD:21575 MONDO:equivalentTo Rare bone disease related to a common gene or pathway defect -MONDO:0865892 aggrecan-related bone disorder GARD:21576 MONDO:equivalentTo Aggrecan-related bone disorder -MONDO:0865893 trpv4-related bone disorder GARD:21577 MONDO:equivalentTo TRPV4-related bone disorder -MONDO:0865894 primary short bowel syndrome GARD:21578 MONDO:equivalentTo Primary short bowel syndrome -MONDO:0865895 intellectual disability-hyperkinetic movement-truncal ataxia syndrome GARD:21579 MONDO:equivalentTo Intellectual disability-hyperkinetic movement-truncal ataxia syndrome -MONDO:0865896 obesity due to sim1 deficiency GARD:21580 MONDO:equivalentTo Obesity due to SIM1 deficiency -MONDO:0865897 2p21 microdeletion syndrome without cystinuria GARD:21581 MONDO:equivalentTo 2p21 microdeletion syndrome without cystinuria -MONDO:0865898 homozygous 2p21 microdeletion syndrome GARD:21582 MONDO:equivalentTo Homozygous 2p21 microdeletion syndrome -MONDO:0865899 intellectual disability-seizures-macrocephaly-obesity syndrome GARD:21583 MONDO:equivalentTo Intellectual disability-seizures-macrocephaly-obesity syndrome -MONDO:0865900 finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome GARD:21584 MONDO:equivalentTo Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome -MONDO:0865901 intellectual disability-facial dysmorphism-hand anomalies syndrome GARD:21585 MONDO:equivalentTo Intellectual disability-facial dysmorphism-hand anomalies syndrome -MONDO:0865902 spondyloepimetaphyseal dysplasia, isidor type GARD:21586 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, Isidor type -MONDO:0865903 spondylometaphyseal dysplasia, czarny-ratajczak type GARD:21587 MONDO:equivalentTo Spondylometaphyseal dysplasia, Czarny-Ratajczak type -MONDO:0865904 acute myeloid leukemia with t(8;16)(p11;p13) translocation GARD:21588 MONDO:equivalentTo Acute myeloid leukemia with t(8;16)(p11;p13) translocation -MONDO:0865905 familial syringomyelia GARD:21589 MONDO:equivalentTo Familial syringomyelia -MONDO:0865906 angora hair nevus GARD:21590 MONDO:equivalentTo Angora hair nevus -MONDO:0865907 didymosis aplasticosebacea GARD:21591 MONDO:equivalentTo Didymosis aplasticosebacea -MONDO:0865908 scalp syndrome GARD:21592 MONDO:equivalentTo SCALP syndrome -MONDO:0865909 nevada syndrome GARD:21593 MONDO:equivalentTo NEVADA syndrome -MONDO:0865910 fetal anticonvulsant syndrome GARD:21594 MONDO:equivalentTo Fetal anticonvulsant syndrome -MONDO:0865911 fetal carbamazepine syndrome GARD:21595 MONDO:equivalentTo Fetal carbamazepine syndrome -MONDO:0865912 rare disorder with dystonia and other neurologic or systemic manifestation GARD:21596 MONDO:equivalentTo Rare disorder with dystonia and other neurologic or systemic manifestation -MONDO:0865913 ataxia-telangiectasia variant GARD:21597 MONDO:equivalentTo Ataxia-telangiectasia variant -MONDO:0865914 medich giant platelet syndrome GARD:21598 MONDO:equivalentTo Medich giant platelet syndrome -MONDO:0865915 xylt1-cdg GARD:21599 MONDO:equivalentTo XYLT1-CDG -MONDO:0865916 camptodactyly-joint contractures-facial skeletal defects syndrome GARD:216 MONDO:equivalentTo Camptodactyly-joint contractures-facial skeletal defects syndrome -MONDO:0865917 congenital muscular dystrophy with hyperlaxity GARD:21600 MONDO:equivalentTo Congenital muscular dystrophy with hyperlaxity -MONDO:0865918 qualitative or quantitative defects of alpha-dystroglycan GARD:21601 MONDO:equivalentTo Qualitative or quantitative defects of alpha-dystroglycan -MONDO:0865919 primary qualitative or quantitative defects of alpha-dystroglycan GARD:21602 MONDO:equivalentTo Primary qualitative or quantitative defects of alpha-dystroglycan -MONDO:0865920 congenital disorder of glycosylation with neurological involvement GARD:21603 MONDO:equivalentTo Congenital disorder of glycosylation with neurological involvement -MONDO:0865921 congenital disorder of glycosylation with epilepsy as a major feature GARD:21604 MONDO:equivalentTo Congenital disorder of glycosylation with epilepsy as a major feature -MONDO:0865922 congenital disorder of glycosylation with hepatic involvement GARD:21605 MONDO:equivalentTo Congenital disorder of glycosylation with hepatic involvement -MONDO:0865923 congenital disorder of glycosylation with dilated cardiomyopathy GARD:21606 MONDO:equivalentTo Congenital disorder of glycosylation with dilated cardiomyopathy -MONDO:0865924 congenital disorder of glycosylation with cardiac malformation as a major feature GARD:21607 MONDO:equivalentTo Congenital disorder of glycosylation with cardiac malformation as a major feature -MONDO:0865925 congenital disorder of glycosylation with intestinal involvement GARD:21608 MONDO:equivalentTo Congenital disorder of glycosylation with intestinal involvement -MONDO:0865926 congenital disorder of glycosylation-related bone disorder GARD:21609 MONDO:equivalentTo Congenital disorder of glycosylation-related bone disorder -MONDO:0865927 congenital disorder of glycosylation with skin involvement GARD:21610 MONDO:equivalentTo Congenital disorder of glycosylation with skin involvement -MONDO:0865928 congenital disorder of glycosylation with nephropathy as a major feature GARD:21611 MONDO:equivalentTo Congenital disorder of glycosylation with nephropathy as a major feature -MONDO:0865929 congenital disorder of glycosylation with deafness as a major feature GARD:21612 MONDO:equivalentTo Congenital disorder of glycosylation with deafness as a major feature -MONDO:0865930 genetic periodic paralysis GARD:21613 MONDO:equivalentTo Genetic periodic paralysis -MONDO:0865931 genetic neurovascular malformation GARD:21614 MONDO:equivalentTo Genetic neurovascular malformation -MONDO:0865932 sphingolipidosis with epilepsy GARD:21615 MONDO:equivalentTo Sphingolipidosis with epilepsy -MONDO:0865933 genetic syndromic esophageal malformation GARD:21616 MONDO:equivalentTo Genetic syndromic esophageal malformation -MONDO:0865934 genetic hyperaldosteronism GARD:21617 MONDO:equivalentTo Genetic hyperaldosteronism -MONDO:0865935 generalized isolated dystonia GARD:21618 MONDO:equivalentTo Generalized isolated dystonia -MONDO:0865936 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression GARD:21619 MONDO:equivalentTo Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression -MONDO:0865937 juvenile absence epilepsy GARD:2162 MONDO:equivalentTo Juvenile absence epilepsy -MONDO:0865938 fatal post-viral neurodegenerative disorder GARD:21620 MONDO:equivalentTo Fatal post-viral neurodegenerative disorder -MONDO:0865939 growth retardation-mild developmental delay-chronic hepatitis syndrome GARD:21621 MONDO:equivalentTo Growth retardation-mild developmental delay-chronic hepatitis syndrome -MONDO:0865940 disorder of asparagine metabolism GARD:21622 MONDO:equivalentTo Disorder of asparagine metabolism -MONDO:0865941 adult-onset myasthenia gravis GARD:21623 MONDO:equivalentTo Adult-onset myasthenia gravis -MONDO:0865942 juvenile myasthenia gravis GARD:21624 MONDO:equivalentTo Juvenile myasthenia gravis -MONDO:0865943 transient neonatal myasthenia gravis GARD:21625 MONDO:equivalentTo Transient neonatal myasthenia gravis -MONDO:0865944 glomus tumor GARD:21626 MONDO:equivalentTo Glomus tumor -MONDO:0865945 off-periods in parkinson disease not responding to oral treatment GARD:21627 MONDO:equivalentTo Off-periods in Parkinson disease not responding to oral treatment -MONDO:0865946 persistent combined dystonia GARD:21628 MONDO:equivalentTo Persistent combined dystonia -MONDO:0865947 mucinous adenocarcinoma of the appendix GARD:21629 MONDO:equivalentTo Mucinous adenocarcinoma of the appendix -MONDO:0865948 rare genetic dystonia GARD:21630 MONDO:equivalentTo Rare genetic dystonia -MONDO:0865949 deep dermatophytosis GARD:21631 MONDO:equivalentTo Deep dermatophytosis -MONDO:0865950 prp systemic amyloidosis GARD:21632 MONDO:equivalentTo PrP systemic amyloidosis -MONDO:0865951 3q27.3 microdeletion syndrome GARD:21633 MONDO:equivalentTo 3q27.3 microdeletion syndrome -MONDO:0865952 periodic paralysis with later-onset distal motor neuropathy GARD:21634 MONDO:equivalentTo Periodic paralysis with later-onset distal motor neuropathy -MONDO:0865953 periodic paralysis with transient compartment-like syndrome GARD:21635 MONDO:equivalentTo Periodic paralysis with transient compartment-like syndrome -MONDO:0865954 t+ b+ severe combined immunodeficiency GARD:21636 MONDO:equivalentTo T+ B+ severe combined immunodeficiency -MONDO:0865955 ferro-cerebro-cutaneous syndrome GARD:21637 MONDO:equivalentTo Ferro-cerebro-cutaneous syndrome -MONDO:0865956 adenocarcinoma of the penis GARD:21638 MONDO:equivalentTo Adenocarcinoma of the penis -MONDO:0865957 squamous cell carcinoma of the penis GARD:21639 MONDO:equivalentTo Squamous cell carcinoma of the penis -MONDO:0865958 refractory celiac disease GARD:21640 MONDO:equivalentTo Refractory celiac disease -MONDO:0865959 prader-willi-like syndrome GARD:21641 MONDO:equivalentTo Prader-Willi-like syndrome -MONDO:0865960 sim1-related prader-willi-like syndrome GARD:21642 MONDO:equivalentTo SIM1-related Prader-Willi-like syndrome -MONDO:0865961 secondary neonatal autoimmune disease GARD:21643 MONDO:equivalentTo Secondary neonatal autoimmune disease -MONDO:0865962 neonatal antiphospholipid syndrome GARD:21644 MONDO:equivalentTo Neonatal antiphospholipid syndrome -MONDO:0865963 neonatal autoimmune hemolytic anemia GARD:21645 MONDO:equivalentTo Neonatal autoimmune hemolytic anemia -MONDO:0865964 neonatal dermatomyositis GARD:21646 MONDO:equivalentTo Neonatal dermatomyositis -MONDO:0865965 neonatal lupus erythematosus GARD:21647 MONDO:equivalentTo Neonatal lupus erythematosus -MONDO:0865966 neonatal scleroderma GARD:21648 MONDO:equivalentTo Neonatal scleroderma -MONDO:0865967 persistent idiopathic facial pain GARD:21649 MONDO:equivalentTo Persistent idiopathic facial pain -MONDO:0865968 malignant non-epithelial tumor of ovary GARD:21650 MONDO:equivalentTo Malignant non-epithelial tumor of ovary -MONDO:0865969 mucinous adenocarcinoma of ovary GARD:21651 MONDO:equivalentTo Mucinous adenocarcinoma of ovary -MONDO:0865970 clear cell adenocarcinoma of the ovary GARD:21652 MONDO:equivalentTo Clear cell adenocarcinoma of the ovary -MONDO:0865971 primary peritoneal serous/papillary carcinoma GARD:21653 MONDO:equivalentTo Primary peritoneal serous/papillary carcinoma -MONDO:0865972 malignant teratoma of ovary GARD:21654 MONDO:equivalentTo Malignant teratoma of ovary -MONDO:0865973 klhl9-related early-onset distal myopathy GARD:21655 MONDO:equivalentTo KLHL9-related early-onset distal myopathy -MONDO:0865974 distal nebulin myopathy GARD:21656 MONDO:equivalentTo Distal nebulin myopathy -MONDO:0865975 osteonecrosis GARD:21657 MONDO:equivalentTo Osteonecrosis -MONDO:0865976 avascular necrosis GARD:21658 MONDO:equivalentTo Avascular necrosis -MONDO:0865977 secondary avascular necrosis GARD:21659 MONDO:equivalentTo Secondary avascular necrosis -MONDO:0865978 celiac disease-epilepsy-cerebral calcification syndrome GARD:2166 MONDO:equivalentTo Celiac disease-epilepsy-cerebral calcification syndrome -MONDO:0865979 traumatic avascular necrosis GARD:21660 MONDO:equivalentTo Traumatic avascular necrosis -MONDO:0865980 secondary non-traumatic avascular necrosis GARD:21661 MONDO:equivalentTo Secondary non-traumatic avascular necrosis -MONDO:0865981 rare hereditary disease with avascular necrosis GARD:21662 MONDO:equivalentTo Rare hereditary disease with avascular necrosis -MONDO:0865982 osteonecrosis of the jaw GARD:21663 MONDO:equivalentTo Osteonecrosis of the jaw -MONDO:0865983 primary avascular necrosis GARD:21664 MONDO:equivalentTo Primary avascular necrosis -MONDO:0865984 idiopathic avascular necrosis GARD:21665 MONDO:equivalentTo Idiopathic avascular necrosis -MONDO:0865985 epiphysiolysis of the hip GARD:21666 MONDO:equivalentTo Epiphysiolysis of the hip -MONDO:0865986 osteonecrosis of genetic origin GARD:21667 MONDO:equivalentTo Osteonecrosis of genetic origin -MONDO:0865987 avascular necrosis of genetic origin GARD:21668 MONDO:equivalentTo Avascular necrosis of genetic origin -MONDO:0865988 osteochondrosis of genetic origin GARD:21669 MONDO:equivalentTo Osteochondrosis of genetic origin -MONDO:0865989 progressive myoclonic epilepsy type 3 GARD:2167 MONDO:equivalentTo Progressive myoclonic epilepsy type 3 -MONDO:0865990 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder GARD:21670 MONDO:equivalentTo Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0865991 rare male infertility due to adrenal disorder GARD:21671 MONDO:equivalentTo Rare male infertility due to adrenal disorder -MONDO:0865992 rare male infertility due to testicular endocrine disorder GARD:21672 MONDO:equivalentTo Rare male infertility due to testicular endocrine disorder -MONDO:0865993 male infertility due to gonadal dysgenesis or sperm disorder GARD:21673 MONDO:equivalentTo Male infertility due to gonadal dysgenesis or sperm disorder -MONDO:0865994 male infertility due to sperm disorder GARD:21674 MONDO:equivalentTo Male infertility due to sperm disorder -MONDO:0865995 male infertility with spermatogenesis disorder GARD:21675 MONDO:equivalentTo Male infertility with spermatogenesis disorder -MONDO:0865996 male infertility due to sperm motility disorder GARD:21676 MONDO:equivalentTo Male infertility due to sperm motility disorder -MONDO:0865997 rare disorder with obstructive azoospermia GARD:21677 MONDO:equivalentTo Rare disorder with obstructive azoospermia -MONDO:0865998 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder GARD:21678 MONDO:equivalentTo Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder -MONDO:0865999 rare female infertility due to a congenital hypogonadotropic hypogonadism GARD:21679 MONDO:equivalentTo Rare female infertility due to a congenital hypogonadotropic hypogonadism -MONDO:0866000 epilepsy-telangiectasia syndrome GARD:2168 MONDO:equivalentTo Epilepsy-telangiectasia syndrome -MONDO:0866001 rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism GARD:21680 MONDO:equivalentTo Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism -MONDO:0866002 rare female infertility due to an adrenal disorder GARD:21681 MONDO:equivalentTo Rare female infertility due to an adrenal disorder -MONDO:0866003 rare female infertility due to an anomaly of ovarian function GARD:21682 MONDO:equivalentTo Rare female infertility due to an anomaly of ovarian function -MONDO:0866004 rare female infertility due to gonadal dysgenesis GARD:21683 MONDO:equivalentTo Rare female infertility due to gonadal dysgenesis -MONDO:0866005 rare female infertility due to an implantation defect GARD:21684 MONDO:equivalentTo Rare female infertility due to an implantation defect -MONDO:0866006 rare genetic male infertility GARD:21685 MONDO:equivalentTo Rare genetic male infertility -MONDO:0866007 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin GARD:21686 MONDO:equivalentTo Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0866008 rare male infertility due to adrenal disorder of genetic origin GARD:21687 MONDO:equivalentTo Rare male infertility due to adrenal disorder of genetic origin -MONDO:0866009 male infertility due to obstructive azoospermia of genetic origin GARD:21688 MONDO:equivalentTo Male infertility due to obstructive azoospermia of genetic origin -MONDO:0866010 rare genetic disorder with obstructive azoospermia GARD:21689 MONDO:equivalentTo Rare genetic disorder with obstructive azoospermia -MONDO:0866011 myoclonic-astatic epilepsy GARD:2169 MONDO:equivalentTo Myoclonic-astatic epilepsy -MONDO:0866012 rare genetic female infertility GARD:21690 MONDO:equivalentTo Rare genetic female infertility -MONDO:0866013 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin GARD:21691 MONDO:equivalentTo Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -MONDO:0866014 rare female infertility due to adrenal disorder of genetic origin GARD:21692 MONDO:equivalentTo Rare female infertility due to adrenal disorder of genetic origin -MONDO:0866015 rare female infertility due to an anomaly of ovarian function of genetic origin GARD:21693 MONDO:equivalentTo Rare female infertility due to an anomaly of ovarian function of genetic origin -MONDO:0866016 female infertility due to an implantation defect of genetic origin GARD:21694 MONDO:equivalentTo Female infertility due to an implantation defect of genetic origin -MONDO:0866017 autosomal recessive spastic paraplegia type 59 GARD:21695 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 59 -MONDO:0866018 autosomal recessive spastic paraplegia type 60 GARD:21696 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 60 -MONDO:0866019 autosomal recessive spastic paraplegia type 66 GARD:21697 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 66 -MONDO:0866020 autosomal recessive spastic paraplegia type 67 GARD:21698 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 67 -MONDO:0866021 autosomal recessive spastic paraplegia type 69 GARD:21699 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 69 -MONDO:0866022 benign occipital epilepsy GARD:2170 MONDO:equivalentTo Benign occipital epilepsy -MONDO:0866023 autosomal recessive spastic paraplegia type 70 GARD:21700 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 70 -MONDO:0866024 autosomal recessive spastic paraplegia type 71 GARD:21701 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 71 -MONDO:0866025 huntington disease-like syndrome due to c9orf72 expansions GARD:21702 MONDO:equivalentTo Huntington disease-like syndrome due to C9ORF72 expansions -MONDO:0866026 axin2-related attenuated familial adenomatous polyposis GARD:21703 MONDO:equivalentTo AXIN2-related attenuated familial adenomatous polyposis -MONDO:0866027 fibrolamellar hepatocellular carcinoma GARD:21704 MONDO:equivalentTo Fibrolamellar hepatocellular carcinoma -MONDO:0866028 9q31.1q31.3 microdeletion syndrome GARD:21705 MONDO:equivalentTo 9q31.1q31.3 microdeletion syndrome -MONDO:0866029 14q24.1q24.3 microdeletion syndrome GARD:21706 MONDO:equivalentTo 14q24.1q24.3 microdeletion syndrome -MONDO:0866030 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome GARD:21707 MONDO:equivalentTo Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome -MONDO:0866031 cold-induced sweating syndrome-hyperthermia spectrum GARD:21708 MONDO:equivalentTo Cold-induced sweating syndrome-hyperthermia spectrum -MONDO:0866032 lichen myxedematosus GARD:21709 MONDO:equivalentTo Lichen myxedematosus -MONDO:0866033 acute myeloid leukemia with t(6;9)(p23;q34) GARD:21710 MONDO:equivalentTo Acute myeloid leukemia with t(6;9)(p23;q34) -MONDO:0866034 acute myeloid leukemia with t(9;11)(p22;q23) GARD:21711 MONDO:equivalentTo Acute myeloid leukemia with t(9;11)(p22;q23) -MONDO:0866035 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) GARD:21712 MONDO:equivalentTo Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) -MONDO:0866036 acute myeloid leukemia with npm1 somatic mutations GARD:21713 MONDO:equivalentTo Acute myeloid leukemia with NPM1 somatic mutations -MONDO:0866037 primary eosinophilic gastrointestinal disease GARD:21714 MONDO:equivalentTo Primary eosinophilic gastrointestinal disease -MONDO:0866038 eosinophilic colitis GARD:21715 MONDO:equivalentTo Eosinophilic colitis -MONDO:0866039 hepatitis delta GARD:21716 MONDO:equivalentTo Hepatitis delta -MONDO:0866040 fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome GARD:21717 MONDO:equivalentTo FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome -MONDO:0866041 rare female infertility due to oocyte maturation defect GARD:21718 MONDO:equivalentTo Rare female infertility due to oocyte maturation defect -MONDO:0866042 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome GARD:21719 MONDO:equivalentTo Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome -MONDO:0866043 chondromyxoid fibroma GARD:21720 MONDO:equivalentTo Chondromyxoid fibroma -MONDO:0866044 clear cell papillary renal cell carcinoma GARD:21721 MONDO:equivalentTo Clear cell papillary renal cell carcinoma -MONDO:0866045 acquired cystic disease-associated renal cell carcinoma GARD:21722 MONDO:equivalentTo Acquired cystic disease-associated renal cell carcinoma -MONDO:0866046 spinal muscular atrophy with respiratory distress type 2 GARD:21723 MONDO:equivalentTo Spinal muscular atrophy with respiratory distress type 2 -MONDO:0866047 x-linked distal hereditary motor neuropathy GARD:21724 MONDO:equivalentTo X-linked distal hereditary motor neuropathy -MONDO:0866048 dysostosis of genetic origin GARD:21725 MONDO:equivalentTo Dysostosis of genetic origin -MONDO:0866049 dysostosis of genetic origin with limb anomaly as a major feature GARD:21726 MONDO:equivalentTo Dysostosis of genetic origin with limb anomaly as a major feature -MONDO:0866050 genetic syndrome with limb reduction defects GARD:21727 MONDO:equivalentTo Genetic syndrome with limb reduction defects -MONDO:0866051 genetic syndrome with limb malformations as a major feature GARD:21728 MONDO:equivalentTo Genetic syndrome with limb malformations as a major feature -MONDO:0866052 polyarticular juvenile idiopathic arthritis GARD:21729 MONDO:equivalentTo Polyarticular juvenile idiopathic arthritis -MONDO:0866053 familial partial epilepsy GARD:2173 MONDO:equivalentTo Familial partial epilepsy -MONDO:0866054 rare genetic bone development disorder GARD:21730 MONDO:equivalentTo Rare genetic bone development disorder -MONDO:0866055 williams-campbell syndrome GARD:21731 MONDO:equivalentTo Williams-Campbell syndrome -MONDO:0866056 angelman syndrome due to a point mutation GARD:21732 MONDO:equivalentTo Angelman syndrome due to a point mutation -MONDO:0866057 angelman syndrome due to imprinting defect in 15q11-q13 GARD:21733 MONDO:equivalentTo Angelman syndrome due to imprinting defect in 15q11-q13 -MONDO:0866058 central retinal vein occlusion GARD:21734 MONDO:equivalentTo Central retinal vein occlusion -MONDO:0866059 proton-pump inhibitor-responsive esophageal eosinophilia GARD:21735 MONDO:equivalentTo Proton-pump inhibitor-responsive esophageal eosinophilia -MONDO:0866060 generalized eruptive keratoacanthoma GARD:21736 MONDO:equivalentTo Generalized eruptive keratoacanthoma -MONDO:0866061 13q12.3 microdeletion syndrome GARD:21737 MONDO:equivalentTo 13q12.3 microdeletion syndrome -MONDO:0866062 prkar1b-related neurodegenerative dementia with intermediate filaments GARD:21738 MONDO:equivalentTo PRKAR1B-related neurodegenerative dementia with intermediate filaments -MONDO:0866063 dystonia-aphonia syndrome GARD:21739 MONDO:equivalentTo Dystonia-aphonia syndrome -MONDO:0866064 genetic facial cleft GARD:21740 MONDO:equivalentTo Genetic facial cleft -MONDO:0866065 carcinoma of esophagus, salivary gland type GARD:21741 MONDO:equivalentTo Carcinoma of esophagus, salivary gland type -MONDO:0866066 undifferentiated carcinoma of esophagus GARD:21742 MONDO:equivalentTo Undifferentiated carcinoma of esophagus -MONDO:0866067 squamous cell carcinoma of the stomach GARD:21743 MONDO:equivalentTo Squamous cell carcinoma of the stomach -MONDO:0866068 secondary pulmonary alveolar proteinosis GARD:21744 MONDO:equivalentTo Secondary pulmonary alveolar proteinosis -MONDO:0866069 semicircular canal dehiscence syndrome GARD:21745 MONDO:equivalentTo Semicircular canal dehiscence syndrome -MONDO:0866070 glycogen storage disease due to acid maltase deficiency, late-onset GARD:21746 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency, late-onset -MONDO:0866071 autosomal recessive severe congenital neutropenia due to cxcr2 deficiency GARD:21747 MONDO:equivalentTo Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency -MONDO:0866072 rare genetic odontal or periodontal disorder GARD:21748 MONDO:equivalentTo Rare genetic odontal or periodontal disorder -MONDO:0866073 autoimmune encephalopathy with parasomnia and obstructive sleep apnea GARD:21749 MONDO:equivalentTo Autoimmune encephalopathy with parasomnia and obstructive sleep apnea -MONDO:0866074 cono-spondylar dysplasia GARD:21750 MONDO:equivalentTo Cono-spondylar dysplasia -MONDO:0866075 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome GARD:21751 MONDO:equivalentTo Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome -MONDO:0866076 x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome GARD:21752 MONDO:equivalentTo X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome -MONDO:0866077 arx-related encephalopathy-brain malformation spectrum GARD:21753 MONDO:equivalentTo ARX-related encephalopathy-brain malformation spectrum -MONDO:0866078 rare autonomic nervous system disorder GARD:21754 MONDO:equivalentTo Rare autonomic nervous system disorder -MONDO:0866079 double outlet right ventricle with subaortic or doubly committed ventricular septal defect GARD:21755 MONDO:equivalentTo Double outlet right ventricle with subaortic or doubly committed ventricular septal defect -MONDO:0866080 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy GARD:21756 MONDO:equivalentTo Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy -MONDO:0866081 rare carcinoma of stomach GARD:21757 MONDO:equivalentTo Rare carcinoma of stomach -MONDO:0866082 hereditary gastric cancer GARD:21758 MONDO:equivalentTo Hereditary gastric cancer -MONDO:0866083 undifferentiated carcinoma of stomach GARD:21759 MONDO:equivalentTo Undifferentiated carcinoma of stomach -MONDO:0866084 rare tumor of small intestine GARD:21760 MONDO:equivalentTo Rare tumor of small intestine -MONDO:0866085 mesenchymal tumor of small intestine GARD:21761 MONDO:equivalentTo Mesenchymal tumor of small intestine -MONDO:0866086 microcephaly-complex motor and sensory axonal neuropathy syndrome GARD:21762 MONDO:equivalentTo Microcephaly-complex motor and sensory axonal neuropathy syndrome -MONDO:0866087 rare carcinoma of small intestine GARD:21763 MONDO:equivalentTo Rare carcinoma of small intestine -MONDO:0866088 squamous cell carcinoma of the small intestine GARD:21764 MONDO:equivalentTo Squamous cell carcinoma of the small intestine -MONDO:0866089 neuroendocrine tumor of the small intestine GARD:21765 MONDO:equivalentTo Neuroendocrine tumor of the small intestine -MONDO:0866090 epithelial tumor of the appendix GARD:21766 MONDO:equivalentTo Epithelial tumor of the appendix -MONDO:0866091 rare epithelial tumor of colon GARD:21767 MONDO:equivalentTo Rare epithelial tumor of colon -MONDO:0866092 squamous cell carcinoma of the colon GARD:21768 MONDO:equivalentTo Squamous cell carcinoma of the colon -MONDO:0866093 rare epithelial tumor of rectum GARD:21769 MONDO:equivalentTo Rare epithelial tumor of rectum -MONDO:0866094 squamous cell carcinoma of the rectum GARD:21770 MONDO:equivalentTo Squamous cell carcinoma of the rectum -MONDO:0866095 epithelial tumor of anal canal GARD:21771 MONDO:equivalentTo Epithelial tumor of anal canal -MONDO:0866096 carcinoma of the anal canal GARD:21772 MONDO:equivalentTo Carcinoma of the anal canal -MONDO:0866097 adenocarcinoma of the anal canal GARD:21773 MONDO:equivalentTo Adenocarcinoma of the anal canal -MONDO:0866098 squamous cell carcinoma of the anal canal GARD:21774 MONDO:equivalentTo Squamous cell carcinoma of the anal canal -MONDO:0866099 rare epithelial tumor of pancreas GARD:21775 MONDO:equivalentTo Rare epithelial tumor of pancreas -MONDO:0866100 squamous cell carcinoma of pancreas GARD:21776 MONDO:equivalentTo Squamous cell carcinoma of pancreas -MONDO:0866101 acinar cell carcinoma of pancreas GARD:21777 MONDO:equivalentTo Acinar cell carcinoma of pancreas -MONDO:0866102 mucinous cystadenocarcinoma of the pancreas GARD:21778 MONDO:equivalentTo Mucinous cystadenocarcinoma of the pancreas -MONDO:0866103 intraductal papillary mucinous carcinoma of pancreas GARD:21779 MONDO:equivalentTo Intraductal papillary mucinous carcinoma of pancreas -MONDO:0866104 epiphyseal dysplasia-hearing loss-dysmorphism syndrome GARD:2178 MONDO:equivalentTo Epiphyseal dysplasia-hearing loss-dysmorphism syndrome -MONDO:0866105 solid pseudopapillary carcinoma of pancreas GARD:21780 MONDO:equivalentTo Solid pseudopapillary carcinoma of pancreas -MONDO:0866106 serous cystadenocarcinoma of pancreas GARD:21781 MONDO:equivalentTo Serous cystadenocarcinoma of pancreas -MONDO:0866107 osteoclastic giant cell tumor of pancreas GARD:21782 MONDO:equivalentTo Osteoclastic giant cell tumor of pancreas -MONDO:0866108 congenital myopathy with myasthenic-like onset GARD:21783 MONDO:equivalentTo Congenital myopathy with myasthenic-like onset -MONDO:0866109 qualitative or quantitative defects of torsin-1a-interacting protein 1 GARD:21784 MONDO:equivalentTo Qualitative or quantitative defects of Torsin-1A-interacting protein 1 -MONDO:0866110 rare malignant epithelial tumor of liver and intrahepatic biliary tract GARD:21785 MONDO:equivalentTo Rare malignant epithelial tumor of liver and intrahepatic biliary tract -MONDO:0866111 carcinoma of liver and intrahepatic biliary tract GARD:21786 MONDO:equivalentTo Carcinoma of liver and intrahepatic biliary tract -MONDO:0866112 adenocarcinoma of the liver and intrahepatic biliary tract GARD:21787 MONDO:equivalentTo Adenocarcinoma of the liver and intrahepatic biliary tract -MONDO:0866113 undifferentiated carcinoma of liver and intrahepatic biliary tract GARD:21788 MONDO:equivalentTo Undifferentiated carcinoma of liver and intrahepatic biliary tract -MONDO:0866114 squamous cell carcinoma of liver and intrahepatic biliary tract GARD:21789 MONDO:equivalentTo Squamous cell carcinoma of liver and intrahepatic biliary tract -MONDO:0866115 biliary cystadenocarcinoma GARD:21790 MONDO:equivalentTo Biliary cystadenocarcinoma -MONDO:0866116 adenocarcinoma of the gallbladder and extrahepatic biliary tract GARD:21791 MONDO:equivalentTo Adenocarcinoma of the gallbladder and extrahepatic biliary tract -MONDO:0866117 squamous cell carcinoma of gallbladder and extrahepatic biliary tract GARD:21792 MONDO:equivalentTo Squamous cell carcinoma of gallbladder and extrahepatic biliary tract -MONDO:0866118 inherited digestive cancer-predisposing syndrome GARD:21793 MONDO:equivalentTo Inherited digestive cancer-predisposing syndrome -MONDO:0866119 rare epithelial tumor of small intestine GARD:21794 MONDO:equivalentTo Rare epithelial tumor of small intestine -MONDO:0866120 primary immunodeficiency with predisposition to severe viral infection GARD:21795 MONDO:equivalentTo Primary immunodeficiency with predisposition to severe viral infection -MONDO:0866121 late-onset scapuloperoneal muscular dystrophy with hyaline bodies GARD:21796 MONDO:equivalentTo Late-onset scapuloperoneal muscular dystrophy with hyaline bodies -MONDO:0866122 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder GARD:21797 MONDO:equivalentTo Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder -MONDO:0866123 patent urachus GARD:21798 MONDO:equivalentTo Patent urachus -MONDO:0866124 urachal sinus GARD:21799 MONDO:equivalentTo Urachal sinus -MONDO:0866125 rotor syndrome GARD:218 MONDO:equivalentTo Rotor syndrome -MONDO:0866126 multiple epiphyseal dysplasia type 1 GARD:2180 MONDO:equivalentTo Multiple epiphyseal dysplasia type 1 -MONDO:0866127 urachal diverticulum GARD:21800 MONDO:equivalentTo Urachal diverticulum -MONDO:0866128 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis GARD:21801 MONDO:equivalentTo Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis -MONDO:0866129 rare genetic autonomic nervous system disorder GARD:21802 MONDO:equivalentTo Rare genetic autonomic nervous system disorder -MONDO:0866130 syndrome with woolly hair GARD:21803 MONDO:equivalentTo Syndrome with woolly hair -MONDO:0866131 fetal lower urinary tract obstruction GARD:21804 MONDO:equivalentTo Fetal lower urinary tract obstruction -MONDO:0866132 anterior urethral valve GARD:21805 MONDO:equivalentTo Anterior urethral valve -MONDO:0866133 genetic precocious puberty GARD:21806 MONDO:equivalentTo Genetic precocious puberty -MONDO:0866134 precocious puberty in female GARD:21807 MONDO:equivalentTo Precocious puberty in female -MONDO:0866135 genetic precocious puberty in female GARD:21808 MONDO:equivalentTo Genetic precocious puberty in female -MONDO:0866136 genetic otorhinolaryngological malformation GARD:21809 MONDO:equivalentTo Genetic otorhinolaryngological malformation -MONDO:0866137 genetic nose and cavum anomaly GARD:21810 MONDO:equivalentTo Genetic nose and cavum anomaly -MONDO:0866138 genetic larynx anomaly GARD:21811 MONDO:equivalentTo Genetic larynx anomaly -MONDO:0866139 genetic tracheal anomaly GARD:21812 MONDO:equivalentTo Genetic tracheal anomaly -MONDO:0866140 3p25.3 microdeletion syndrome GARD:21813 MONDO:equivalentTo 3p25.3 microdeletion syndrome -MONDO:0866141 congenital urachal anomaly GARD:21814 MONDO:equivalentTo Congenital urachal anomaly -MONDO:0866142 autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation GARD:21815 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation -MONDO:0866143 contractures-developmental delay-pierre robin syndrome GARD:21816 MONDO:equivalentTo Contractures-developmental delay-Pierre Robin syndrome -MONDO:0866144 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome GARD:21817 MONDO:equivalentTo Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome -MONDO:0866145 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome GARD:21818 MONDO:equivalentTo Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome -MONDO:0866146 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy GARD:21819 MONDO:equivalentTo Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy -MONDO:0866147 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa GARD:21820 MONDO:equivalentTo Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa -MONDO:0866148 disorder of keton body transport GARD:21821 MONDO:equivalentTo Disorder of keton body transport -MONDO:0866149 human infection by orthopoxvirus GARD:21822 MONDO:equivalentTo Human infection by orthopoxvirus -MONDO:0866150 placental insufficiency GARD:21823 MONDO:equivalentTo Placental insufficiency -MONDO:0866151 pediatric arterial ischemic stroke GARD:21824 MONDO:equivalentTo Pediatric arterial ischemic stroke -MONDO:0866152 zinc-responsive necrolytic acral erythema GARD:21825 MONDO:equivalentTo Zinc-responsive necrolytic acral erythema -MONDO:0866153 non-recovering obstetric brachial plexus lesion GARD:21826 MONDO:equivalentTo Non-recovering obstetric brachial plexus lesion -MONDO:0866154 alect2 amyloidosis GARD:21827 MONDO:equivalentTo ALECT2 amyloidosis -MONDO:0866155 aapoaiv amyloidosis GARD:21828 MONDO:equivalentTo AApoAIV amyloidosis -MONDO:0866156 abeta2m amyloidosis GARD:21829 MONDO:equivalentTo ABeta2M amyloidosis -MONDO:0866157 primary polyarteritis nodosa GARD:21830 MONDO:equivalentTo Primary polyarteritis nodosa -MONDO:0866158 secondary polyarteritis nodosa GARD:21831 MONDO:equivalentTo Secondary polyarteritis nodosa -MONDO:0866159 single-organ polyarteritis nodosa GARD:21832 MONDO:equivalentTo Single-organ polyarteritis nodosa -MONDO:0866160 systemic polyarteritis nodosa GARD:21833 MONDO:equivalentTo Systemic polyarteritis nodosa -MONDO:0866161 autosomal recessive severe congenital neutropenia GARD:21834 MONDO:equivalentTo Autosomal recessive severe congenital neutropenia -MONDO:0866162 plastic bronchitis GARD:21835 MONDO:equivalentTo Plastic bronchitis -MONDO:0866163 congenital oculomotor nerve palsy GARD:21836 MONDO:equivalentTo Congenital oculomotor nerve palsy -MONDO:0866164 congenital abducens nerve palsy GARD:21837 MONDO:equivalentTo Congenital abducens nerve palsy -MONDO:0866165 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome GARD:21838 MONDO:equivalentTo Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome -MONDO:0866166 necrotizing soft tissue infection GARD:21839 MONDO:equivalentTo Necrotizing soft tissue infection -MONDO:0866167 familial colorectal cancer type x GARD:21840 MONDO:equivalentTo Familial colorectal cancer Type X -MONDO:0866168 disorders of pentose/polyol metabolism GARD:21841 MONDO:equivalentTo Disorders of pentose/polyol metabolism -MONDO:0866169 extensive peripapillary myelinated nerve fibers GARD:21842 MONDO:equivalentTo Extensive peripapillary myelinated nerve fibers -MONDO:0866170 combined hamartoma of the retina and retinal pigment epithelium GARD:21843 MONDO:equivalentTo Combined hamartoma of the retina and retinal pigment epithelium -MONDO:0866171 isolated agenesis of gallbladder GARD:21844 MONDO:equivalentTo Isolated agenesis of gallbladder -MONDO:0866172 syndromic hereditary optic neuropathy GARD:21845 MONDO:equivalentTo Syndromic hereditary optic neuropathy -MONDO:0866173 early-onset posterior subcapsular cataract GARD:21846 MONDO:equivalentTo Early-onset posterior subcapsular cataract -MONDO:0866174 ah amyloidosis GARD:21847 MONDO:equivalentTo AH amyloidosis -MONDO:0866175 46,xy disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect GARD:21848 MONDO:equivalentTo 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect -MONDO:0866176 hyperinsulinemic hypoglycaemia GARD:21849 MONDO:equivalentTo Hyperinsulinemic hypoglycaemia -MONDO:0866177 hypothalamic adipsic hypernatraemia syndrome GARD:21850 MONDO:equivalentTo Hypothalamic adipsic hypernatraemia syndrome -MONDO:0866178 lymphoplasmacytic lymphoma without igm production GARD:21851 MONDO:equivalentTo Lymphoplasmacytic lymphoma without IgM production -MONDO:0866179 nut midline carcinoma GARD:21852 MONDO:equivalentTo NUT midline carcinoma -MONDO:0866180 postpartum psychosis GARD:21853 MONDO:equivalentTo Postpartum psychosis -MONDO:0866181 spontaneous intracranial hypotension GARD:21854 MONDO:equivalentTo Spontaneous intracranial hypotension -MONDO:0866182 paratyphoid fever GARD:21855 MONDO:equivalentTo Paratyphoid fever -MONDO:0866183 acth-independent cushing syndrome due to rare cortisol-producing adrenal tumor GARD:21856 MONDO:equivalentTo ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor -MONDO:0866184 hiv-associated cancer GARD:21857 MONDO:equivalentTo HIV-associated cancer -MONDO:0866185 11q22.2q22.3 microdeletion syndrome GARD:21858 MONDO:equivalentTo 11q22.2q22.3 microdeletion syndrome -MONDO:0866186 20q11.2 microdeletion syndrome GARD:21859 MONDO:equivalentTo 20q11.2 microdeletion syndrome -MONDO:0866187 idiopathic phalangeal acro-osteolysis GARD:21860 MONDO:equivalentTo Idiopathic phalangeal acro-osteolysis -MONDO:0866188 pseudohypoaldosteronism GARD:21861 MONDO:equivalentTo Pseudohypoaldosteronism -MONDO:0866189 caudal regression-sirenomelia spectrum GARD:21862 MONDO:equivalentTo Caudal regression-sirenomelia spectrum -MONDO:0866190 secondary vasculitis GARD:21863 MONDO:equivalentTo Secondary vasculitis -MONDO:0866191 nik deficiency GARD:21864 MONDO:equivalentTo NIK deficiency -MONDO:0866192 susceptibility to localized juvenile periodontitis GARD:21865 MONDO:equivalentTo Susceptibility to localized juvenile periodontitis -MONDO:0866193 autosomal dominant spastic paraplegia type 9b GARD:21866 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 9B -MONDO:0866194 igg4-related sclerosing cholangitis GARD:21867 MONDO:equivalentTo IgG4-related sclerosing cholangitis -MONDO:0866195 sclerosing cholangitis GARD:21868 MONDO:equivalentTo Sclerosing cholangitis -MONDO:0866196 secondary sclerosing cholangitis GARD:21869 MONDO:equivalentTo Secondary sclerosing cholangitis -MONDO:0866197 keratocystic odontogenic tumor GARD:21870 MONDO:equivalentTo Keratocystic odontogenic tumor -MONDO:0866198 cerebral visual impairment GARD:21871 MONDO:equivalentTo Cerebral visual impairment -MONDO:0866199 lipoyl transferase 2 deficiency GARD:21872 MONDO:equivalentTo Lipoyl transferase 2 deficiency -MONDO:0866200 biological anomaly without phenotypic characterization GARD:21873 MONDO:equivalentTo Biological anomaly without phenotypic characterization -MONDO:0866201 idiopathic dropped head syndrome GARD:21874 MONDO:equivalentTo Idiopathic dropped head syndrome -MONDO:0866202 19p13.3 microduplication syndrome GARD:21875 MONDO:equivalentTo 19p13.3 microduplication syndrome -MONDO:0866203 partial duplication of the short arm of chromosome 19 GARD:21876 MONDO:equivalentTo Partial duplication of the short arm of chromosome 19 -MONDO:0866204 ectopia cordis GARD:21877 MONDO:equivalentTo Ectopia cordis -MONDO:0866205 genetic primary orthostatic hypotension GARD:21878 MONDO:equivalentTo Genetic primary orthostatic hypotension -MONDO:0866206 pleural empyema GARD:21879 MONDO:equivalentTo Pleural empyema -MONDO:0866207 erosive pustular dermatosis of the scalp GARD:2188 MONDO:equivalentTo Erosive pustular dermatosis of the scalp -MONDO:0866208 scedosporiosis GARD:21880 MONDO:equivalentTo Scedosporiosis -MONDO:0866209 snakebite envenomation GARD:21881 MONDO:equivalentTo Snakebite envenomation -MONDO:0866210 igg4-related kidney disease GARD:21882 MONDO:equivalentTo IgG4-related kidney disease -MONDO:0866211 igg4-related aortitis GARD:21883 MONDO:equivalentTo IgG4-related aortitis -MONDO:0866212 igg4-related submandibular gland disease GARD:21884 MONDO:equivalentTo IgG4-related submandibular gland disease -MONDO:0866213 igg4-related ophthalmic disease GARD:21885 MONDO:equivalentTo IgG4-related ophthalmic disease -MONDO:0866214 eosinophilic angiocentric fibrosis GARD:21886 MONDO:equivalentTo Eosinophilic angiocentric fibrosis -MONDO:0866215 polyclonal hyperviscosity syndrome GARD:21887 MONDO:equivalentTo Polyclonal hyperviscosity syndrome -MONDO:0866216 primary cutaneous plasmacytosis GARD:21888 MONDO:equivalentTo Primary cutaneous plasmacytosis -MONDO:0866217 cutaneous pseudolymphoma GARD:21889 MONDO:equivalentTo Cutaneous pseudolymphoma -MONDO:0866218 congenital insensitivity to pain with severe intellectual disability GARD:21890 MONDO:equivalentTo Congenital insensitivity to pain with severe intellectual disability -MONDO:0866219 progressive muscular atrophy GARD:21891 MONDO:equivalentTo Progressive muscular atrophy -MONDO:0866220 anti-p200 pemphigoid GARD:21892 MONDO:equivalentTo Anti-p200 pemphigoid -MONDO:0866221 endometrioid carcinoma of ovary GARD:21893 MONDO:equivalentTo Endometrioid carcinoma of ovary -MONDO:0866222 variably protease-sensitive prionopathy GARD:21894 MONDO:equivalentTo Variably protease-sensitive prionopathy -MONDO:0866223 isolated tracheoesophageal fistula GARD:21895 MONDO:equivalentTo Isolated tracheoesophageal fistula -MONDO:0866224 acute radiation syndrome GARD:21896 MONDO:equivalentTo Acute radiation syndrome -MONDO:0866225 avian influenza GARD:21897 MONDO:equivalentTo Avian influenza -MONDO:0866226 1p35.2 microdeletion syndrome GARD:21898 MONDO:equivalentTo 1p35.2 microdeletion syndrome -MONDO:0866227 hereditary neuroendocrine tumor of small intestine GARD:21899 MONDO:equivalentTo Hereditary neuroendocrine tumor of small intestine -MONDO:0866228 pseudohypoparathyroidism without albright hereditary osteodystrophy GARD:21900 MONDO:equivalentTo Pseudohypoparathyroidism without Albright hereditary osteodystrophy -MONDO:0866229 congenital nemaline myopathy GARD:21901 MONDO:equivalentTo Congenital nemaline myopathy -MONDO:0866230 tafro syndrome GARD:21902 MONDO:equivalentTo TAFRO syndrome -MONDO:0866231 isolated splenogonadal fusion GARD:21903 MONDO:equivalentTo Isolated splenogonadal fusion -MONDO:0866232 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome GARD:21904 MONDO:equivalentTo Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome -MONDO:0866233 clear cell sarcoma of kidney GARD:21905 MONDO:equivalentTo Clear cell sarcoma of kidney -MONDO:0866234 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome GARD:21906 MONDO:equivalentTo Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome -MONDO:0866235 composite hemangioendothelioma GARD:21907 MONDO:equivalentTo Composite hemangioendothelioma -MONDO:0866236 retiform hemangioendothelioma GARD:21908 MONDO:equivalentTo Retiform hemangioendothelioma -MONDO:0866237 primary intralymphatic angioendothelioma GARD:21909 MONDO:equivalentTo Primary intralymphatic angioendothelioma -MONDO:0866238 congenital hemangioma GARD:21910 MONDO:equivalentTo Congenital hemangioma -MONDO:0866239 partially involuting congenital hemangioma GARD:21911 MONDO:equivalentTo Partially involuting congenital hemangioma -MONDO:0866240 mixed cystic lymphatic malformation GARD:21912 MONDO:equivalentTo Mixed cystic lymphatic malformation -MONDO:0866241 vascular tumor with associated anomalies GARD:21913 MONDO:equivalentTo Vascular tumor with associated anomalies -MONDO:0866242 rare capillary malformation with associated anomalies GARD:21914 MONDO:equivalentTo Rare capillary malformation with associated anomalies -MONDO:0866243 common cystic lymphatic malformation GARD:21915 MONDO:equivalentTo Common cystic lymphatic malformation -MONDO:0866244 rare combined vascular malformation GARD:21916 MONDO:equivalentTo Rare combined vascular malformation -MONDO:0866245 rare vascular malformation of major vessels GARD:21917 MONDO:equivalentTo Rare vascular malformation of major vessels -MONDO:0866246 corpus callosum agenesis-macrocephaly-hypertelorism syndrome GARD:21918 MONDO:equivalentTo Corpus callosum agenesis-macrocephaly-hypertelorism syndrome -MONDO:0866247 immunodeficiency due to a complement cascade component deficiency GARD:21919 MONDO:equivalentTo Immunodeficiency due to a complement cascade component deficiency -MONDO:0866248 congenital lethal erythroderma GARD:2192 MONDO:equivalentTo Congenital lethal erythroderma -MONDO:0866249 immunodeficiency due to a complement regulatory deficiency GARD:21920 MONDO:equivalentTo Immunodeficiency due to a complement regulatory deficiency -MONDO:0866250 rare genetic capillary malformation GARD:21921 MONDO:equivalentTo Rare genetic capillary malformation -MONDO:0866251 genetic complex vascular malformation with associated anomalies GARD:21922 MONDO:equivalentTo Genetic complex vascular malformation with associated anomalies -MONDO:0866252 rare genetic vascular tumor GARD:21923 MONDO:equivalentTo Rare genetic vascular tumor -MONDO:0866253 rare genetic venous malformation GARD:21924 MONDO:equivalentTo Rare genetic venous malformation -MONDO:0866254 lethal multiple congenital anomalies/dysmorphic syndrome GARD:21925 MONDO:equivalentTo Lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0866255 intellectual disability syndrome due to a dyrk1a point mutation GARD:21926 MONDO:equivalentTo Intellectual disability syndrome due to a DYRK1A point mutation -MONDO:0866256 verrucous hemangioma GARD:21927 MONDO:equivalentTo Verrucous hemangioma -MONDO:0866257 benign metanephric tumor GARD:21928 MONDO:equivalentTo Benign metanephric tumor -MONDO:0866258 neonatal alloimmune neutropenia GARD:21929 MONDO:equivalentTo Neonatal alloimmune neutropenia -MONDO:0866259 acquired methemoglobinemia GARD:21930 MONDO:equivalentTo Acquired methemoglobinemia -MONDO:0866260 paracetamol poisoning GARD:21931 MONDO:equivalentTo Paracetamol poisoning -MONDO:0866261 familial gastric type 1 neuroendocrine tumor GARD:21932 MONDO:equivalentTo Familial gastric type 1 neuroendocrine tumor -MONDO:0866262 immune-mediated acquired neuromuscular junction disease GARD:21933 MONDO:equivalentTo Immune-mediated acquired neuromuscular junction disease -MONDO:0866263 genetic hemoglobinopathy GARD:21934 MONDO:equivalentTo Genetic hemoglobinopathy -MONDO:0866264 genetic otorhinolaryngologic disease GARD:21935 MONDO:equivalentTo Genetic otorhinolaryngologic disease -MONDO:0866265 exercise-induced malignant hyperthermia GARD:21936 MONDO:equivalentTo Exercise-induced malignant hyperthermia -MONDO:0866266 rare disease with malignant hyperthermia GARD:21937 MONDO:equivalentTo Rare disease with malignant hyperthermia -MONDO:0866267 cyanide poisoning GARD:21938 MONDO:equivalentTo Cyanide poisoning -MONDO:0866268 scorpion envenomation GARD:21939 MONDO:equivalentTo Scorpion envenomation -MONDO:0866269 euthyroid graves orbitopathy GARD:21940 MONDO:equivalentTo Euthyroid Graves orbitopathy -MONDO:0866270 supratip dysplasia GARD:21941 MONDO:equivalentTo Supratip dysplasia -MONDO:0866271 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome GARD:21942 MONDO:equivalentTo Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome -MONDO:0866272 smarca4-deficient sarcoma of thorax GARD:21943 MONDO:equivalentTo SMARCA4-deficient sarcoma of thorax -MONDO:0866273 tubulinopathy-associated dysgyria GARD:21944 MONDO:equivalentTo Tubulinopathy-associated dysgyria -MONDO:0866274 cryptogenic multifocal ulcerous stenosing enteritis GARD:21945 MONDO:equivalentTo Cryptogenic multifocal ulcerous stenosing enteritis -MONDO:0866275 chronic enteropathy associated with slco2a1 gene GARD:21946 MONDO:equivalentTo Chronic enteropathy associated with SLCO2A1 gene -MONDO:0866276 genetic lethal multiple congenital anomalies/dysmorphic syndrome GARD:21947 MONDO:equivalentTo Genetic lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0866277 rare congenital anomaly of ventricular septum GARD:21948 MONDO:equivalentTo Rare congenital anomaly of ventricular septum -MONDO:0866278 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome GARD:21949 MONDO:equivalentTo Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome -MONDO:0866279 thickened earlobes-conductive deafness syndrome GARD:2195 MONDO:equivalentTo Thickened earlobes-conductive deafness syndrome -MONDO:0866280 erythrokeratodermia-cardiomyopathy syndrome GARD:21950 MONDO:equivalentTo Erythrokeratodermia-cardiomyopathy syndrome -MONDO:0866281 axonal hereditary motor and sensory neuropathy GARD:21951 MONDO:equivalentTo Axonal hereditary motor and sensory neuropathy -MONDO:0866282 demyelinating hereditary motor and sensory neuropathy GARD:21952 MONDO:equivalentTo Demyelinating hereditary motor and sensory neuropathy -MONDO:0866283 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome GARD:21953 MONDO:equivalentTo Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome -MONDO:0866284 intermediate charcot-marie-tooth disease GARD:21954 MONDO:equivalentTo Intermediate Charcot-Marie-Tooth disease -MONDO:0866285 hypercontractile muscle stiffness syndrome GARD:21955 MONDO:equivalentTo Hypercontractile muscle stiffness syndrome -MONDO:0866286 congenital generalized hypercontractile muscle stiffness syndrome GARD:21956 MONDO:equivalentTo Congenital generalized hypercontractile muscle stiffness syndrome -MONDO:0866287 type 1 interferonopathy GARD:21957 MONDO:equivalentTo Type 1 interferonopathy -MONDO:0866288 fibroblastic rheumatism GARD:21958 MONDO:equivalentTo Fibroblastic rheumatism -MONDO:0866289 nodular fasciitis GARD:21959 MONDO:equivalentTo Nodular fasciitis -MONDO:0866290 genetic cerebral small vessel disease GARD:21960 MONDO:equivalentTo Genetic cerebral small vessel disease -MONDO:0866291 col4a1 or col4a2-related cerebral small vessel disease GARD:21961 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease -MONDO:0866292 col4a1 or col4a2-related cerebral small vessel disease with ischemic tendancy GARD:21962 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy -MONDO:0866293 col4a1 or col4a2-related cerebral small vessel disease with hemorrhagic tendancy GARD:21963 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy -MONDO:0866294 moyamoya angiopathy GARD:21964 MONDO:equivalentTo Moyamoya angiopathy -MONDO:0866295 rare disorder with a moyamoya angiopathy GARD:21965 MONDO:equivalentTo Rare disorder with a moyamoya angiopathy -MONDO:0866296 primary condylar hyperplasia GARD:21966 MONDO:equivalentTo Primary condylar hyperplasia -MONDO:0866297 syndromic constitutional thrombocytopenia GARD:21967 MONDO:equivalentTo Syndromic constitutional thrombocytopenia -MONDO:0866298 isolated constitutional thrombocytopenia GARD:21968 MONDO:equivalentTo Isolated constitutional thrombocytopenia -MONDO:0866299 genetic cardiac malformation GARD:21969 MONDO:equivalentTo Genetic cardiac malformation -MONDO:0866300 esthesioneuroblastoma GARD:2197 MONDO:equivalentTo Esthesioneuroblastoma -MONDO:0866301 other genetic dermis disorder GARD:21970 MONDO:equivalentTo Other genetic dermis disorder -MONDO:0866302 rare hypercholesterolemia GARD:21971 MONDO:equivalentTo Rare hypercholesterolemia -MONDO:0866303 myo5b-related progressive familial intrahepatic cholestasis GARD:21972 MONDO:equivalentTo MYO5B-related progressive familial intrahepatic cholestasis -MONDO:0866304 choledochal cyst GARD:21973 MONDO:equivalentTo Choledochal cyst -MONDO:0866305 primary intrahepatic lithiasis GARD:21974 MONDO:equivalentTo Primary intrahepatic lithiasis -MONDO:0866306 idiopathic ductopenia GARD:21975 MONDO:equivalentTo Idiopathic ductopenia -MONDO:0866307 caroli syndrome GARD:21976 MONDO:equivalentTo Caroli syndrome -MONDO:0866308 idiopathic peliosis hepatis GARD:21977 MONDO:equivalentTo Idiopathic peliosis hepatis -MONDO:0866309 lethal hydranencephaly-diaphragmatic hernia syndrome GARD:21978 MONDO:equivalentTo Lethal hydranencephaly-diaphragmatic hernia syndrome -MONDO:0866310 congenital portosystemic shunt GARD:21979 MONDO:equivalentTo Congenital portosystemic shunt -MONDO:0866311 ethylmalonic encephalopathy GARD:2198 MONDO:equivalentTo Ethylmalonic encephalopathy -MONDO:0866312 high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement GARD:21980 MONDO:equivalentTo High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement -MONDO:0866313 non-severe combined immunodeficiency GARD:21981 MONDO:equivalentTo Non-severe combined immunodeficiency -MONDO:0866314 aneurysmal bone cyst GARD:21982 MONDO:equivalentTo Aneurysmal bone cyst -MONDO:0866315 isolated neonatal sclerosing cholangitis GARD:21983 MONDO:equivalentTo Isolated neonatal sclerosing cholangitis -MONDO:0866316 facial diplegia with paresthesias GARD:21984 MONDO:equivalentTo Facial diplegia with paresthesias -MONDO:0866317 gastroenteric neuroendocrine neoplasm GARD:21985 MONDO:equivalentTo Gastroenteric neuroendocrine neoplasm -MONDO:0866318 type 1 interferonopathy of childhood GARD:21986 MONDO:equivalentTo Type 1 interferonopathy of childhood -MONDO:0866319 genetic alopecia GARD:21987 MONDO:equivalentTo Genetic alopecia -MONDO:0866320 htra1-related cerebral small vessel disease GARD:21988 MONDO:equivalentTo HTRA1-related cerebral small vessel disease -MONDO:0866321 rare idiopathic macular telangiectasia GARD:21989 MONDO:equivalentTo Rare idiopathic macular telangiectasia -MONDO:0866322 x-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome GARD:21990 MONDO:equivalentTo X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome -MONDO:0866323 propylthiouracil embryofetopathy GARD:21991 MONDO:equivalentTo Propylthiouracil embryofetopathy -MONDO:0866324 genetic non-acquired premature ovarian failure GARD:21992 MONDO:equivalentTo Genetic non-acquired premature ovarian failure -MONDO:0866325 16p12.1p12.3 triplication syndrome GARD:21993 MONDO:equivalentTo 16p12.1p12.3 triplication syndrome -MONDO:0866326 emilin-1-related connective tissue disease GARD:21994 MONDO:equivalentTo EMILIN-1-related connective tissue disease -MONDO:0866327 isolated congenital hepatic fibrosis GARD:21995 MONDO:equivalentTo Isolated congenital hepatic fibrosis -MONDO:0866328 congenital bile acid synthesis defect GARD:21996 MONDO:equivalentTo Congenital bile acid synthesis defect -MONDO:0866329 rare pediatric rheumatologic disease GARD:21997 MONDO:equivalentTo Rare pediatric rheumatologic disease -MONDO:0866330 pediatric collagenous gastritis GARD:21998 MONDO:equivalentTo Pediatric collagenous gastritis -MONDO:0866331 autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation GARD:21999 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation -MONDO:0866332 björnstad syndrome GARD:22 MONDO:equivalentTo Björnstad syndrome -MONDO:0866333 peripartum cardiomyopathy GARD:220 MONDO:equivalentTo Peripartum cardiomyopathy -MONDO:0866334 acute macular neuroretinopathy GARD:22000 MONDO:equivalentTo Acute macular neuroretinopathy -MONDO:0866335 six2-related frontonasal dysplasia GARD:22001 MONDO:equivalentTo SIX2-related frontonasal dysplasia -MONDO:0866336 congenital amyoplasia GARD:22002 MONDO:equivalentTo Congenital amyoplasia -MONDO:0866337 extracranial carotid artery aneurysm GARD:22003 MONDO:equivalentTo Extracranial carotid artery aneurysm -MONDO:0866338 idiopathic pleuroparenchymal fibroelastosis GARD:22004 MONDO:equivalentTo Idiopathic pleuroparenchymal fibroelastosis -MONDO:0866339 vulvar squamous cell carcinoma GARD:22005 MONDO:equivalentTo Vulvar squamous cell carcinoma -MONDO:0866340 vulvar basal cell carcinoma GARD:22006 MONDO:equivalentTo Vulvar basal cell carcinoma -MONDO:0866341 vulvar adenocarcinoma GARD:22007 MONDO:equivalentTo Vulvar adenocarcinoma -MONDO:0866342 rare hyperkinetic movement disorder GARD:22008 MONDO:equivalentTo Rare hyperkinetic movement disorder -MONDO:0866343 9q33.3q34.11 microdeletion syndrome GARD:22009 MONDO:equivalentTo 9q33.3q34.11 microdeletion syndrome -MONDO:0866344 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome GARD:22010 MONDO:equivalentTo Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome -MONDO:0866345 congenital agenesis of the scrotum GARD:22011 MONDO:equivalentTo Congenital agenesis of the scrotum -MONDO:0866346 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome GARD:22012 MONDO:equivalentTo Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome -MONDO:0866347 rare genetic hyperkinetic movement disorder GARD:22013 MONDO:equivalentTo Rare genetic hyperkinetic movement disorder -MONDO:0866348 non-inflammatory vasculopathy GARD:22014 MONDO:equivalentTo Non-inflammatory vasculopathy -MONDO:0866349 c12orf65-related combined oxidative phosphorylation defect GARD:22015 MONDO:equivalentTo C12ORF65-related combined oxidative phosphorylation defect -MONDO:0866350 epidermolytic nevus GARD:22016 MONDO:equivalentTo Epidermolytic nevus -MONDO:0866351 menstrual cycle-dependent periodic fever GARD:22017 MONDO:equivalentTo Menstrual cycle-dependent periodic fever -MONDO:0866352 biliary atresia and associated disorders GARD:22018 MONDO:equivalentTo Biliary atresia and associated disorders -MONDO:0866353 syndromic biliary atresia GARD:22019 MONDO:equivalentTo Syndromic biliary atresia -MONDO:0866354 exostoses-anetodermia-brachydactyly type e syndrome GARD:2202 MONDO:equivalentTo Exostoses-anetodermia-brachydactyly type E syndrome -MONDO:0866355 genetic inflammatory or rheumatoid-like osteoarthropathy GARD:22020 MONDO:equivalentTo Genetic inflammatory or rheumatoid-like osteoarthropathy -MONDO:0866356 overgrowth or tall stature syndrome with skeletal involvement GARD:22021 MONDO:equivalentTo Overgrowth or tall stature syndrome with skeletal involvement -MONDO:0866357 dysostosis with brachydactyly without extraskeletal manifestations GARD:22022 MONDO:equivalentTo Dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0866358 dysostosis with brachydactyly with extraskeletal manifestations GARD:22023 MONDO:equivalentTo Dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0866359 longitudinal limb defect GARD:22024 MONDO:equivalentTo Longitudinal limb defect -MONDO:0866360 terminal transverse limb defect GARD:22025 MONDO:equivalentTo Terminal transverse limb defect -MONDO:0866361 non-syndromic preaxial polydactyly GARD:22026 MONDO:equivalentTo Non-syndromic preaxial polydactyly -MONDO:0866362 non-syndromic postaxial polydactyly GARD:22027 MONDO:equivalentTo Non-syndromic postaxial polydactyly -MONDO:0866363 non-syndromic complex polydactyly GARD:22028 MONDO:equivalentTo Non-syndromic complex polydactyly -MONDO:0866364 hyaline fibromatosis syndrome GARD:22029 MONDO:equivalentTo Hyaline fibromatosis syndrome -MONDO:0866365 ectrodactyly with and without other manifestations GARD:22030 MONDO:equivalentTo Ectrodactyly with and without other manifestations -MONDO:0866366 lrp5-related primary osteoporosis GARD:22031 MONDO:equivalentTo LRP5-related primary osteoporosis -MONDO:0866367 overgrowth syndrome with 2q37 translocation GARD:22032 MONDO:equivalentTo Overgrowth syndrome with 2q37 translocation -MONDO:0866368 complete hemimelia GARD:22033 MONDO:equivalentTo Complete hemimelia -MONDO:0866369 mirror-image polydactyly GARD:22034 MONDO:equivalentTo Mirror-image polydactyly -MONDO:0866370 mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome GARD:22035 MONDO:equivalentTo MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome -MONDO:0866371 congenital syphilis GARD:22036 MONDO:equivalentTo Congenital syphilis -MONDO:0866372 autoimmune/inflammatory optic neuropathy GARD:22037 MONDO:equivalentTo Autoimmune/inflammatory optic neuropathy -MONDO:0866373 chronic relapsing inflammatory optic neuropathy GARD:22038 MONDO:equivalentTo Chronic relapsing inflammatory optic neuropathy -MONDO:0866374 isolated optic neuritis GARD:22039 MONDO:equivalentTo Isolated optic neuritis -MONDO:0866375 recurrent idiopathic neuroretinitis GARD:22040 MONDO:equivalentTo Recurrent idiopathic neuroretinitis -MONDO:0866376 idiopathic optic perineuritis GARD:22041 MONDO:equivalentTo Idiopathic optic perineuritis -MONDO:0866377 pilomatrix carcinoma GARD:22042 MONDO:equivalentTo Pilomatrix carcinoma -MONDO:0866378 witteveen-kolk syndrome GARD:22043 MONDO:equivalentTo Witteveen-Kolk syndrome -MONDO:0866379 cochleovestibular malformation GARD:22044 MONDO:equivalentTo Cochleovestibular malformation -MONDO:0866380 cochlear nerve deficiency GARD:22045 MONDO:equivalentTo Cochlear nerve deficiency -MONDO:0866381 squamous cell carcinoma of oral cavity and lip GARD:22046 MONDO:equivalentTo Squamous cell carcinoma of oral cavity and lip -MONDO:0866382 metopic ridging-ptosis-facial dysmorphism syndrome GARD:22047 MONDO:equivalentTo Metopic ridging-ptosis-facial dysmorphism syndrome -MONDO:0866383 4q25 proximal deletion syndrome GARD:22048 MONDO:equivalentTo 4q25 proximal deletion syndrome -MONDO:0866384 erythema multiforme major GARD:22049 MONDO:equivalentTo Erythema multiforme major -MONDO:0866385 3-methylglutaconic aciduria type 8 GARD:22050 MONDO:equivalentTo 3-methylglutaconic aciduria type 8 -MONDO:0866386 ventilator-induced diaphragmatic dysfunction GARD:22051 MONDO:equivalentTo Ventilator-induced diaphragmatic dysfunction -MONDO:0866387 neuroendocrine neoplasm of pancreas GARD:22052 MONDO:equivalentTo Neuroendocrine neoplasm of pancreas -MONDO:0866388 functioning neuroendocrine tumor of pancreas GARD:22053 MONDO:equivalentTo Functioning neuroendocrine tumor of pancreas -MONDO:0866389 non-functioning neuroendocrine tumor of pancreas GARD:22054 MONDO:equivalentTo Non-functioning neuroendocrine tumor of pancreas -MONDO:0866390 serotonin-producing neuroendocrine tumor of pancreas GARD:22055 MONDO:equivalentTo Serotonin-producing neuroendocrine tumor of pancreas -MONDO:0866391 neuroendocrine carcinoma of pancreas GARD:22056 MONDO:equivalentTo Neuroendocrine carcinoma of pancreas -MONDO:0866392 mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas GARD:22057 MONDO:equivalentTo Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas -MONDO:0866393 neuroendocrine neoplasm of esophagus GARD:22058 MONDO:equivalentTo Neuroendocrine neoplasm of esophagus -MONDO:0866394 rare disorder potentially indicated for transplant GARD:22059 MONDO:equivalentTo Rare disorder potentially indicated for transplant -MONDO:0866395 rare disorder potentially indicated for liver transplant GARD:22060 MONDO:equivalentTo Rare disorder potentially indicated for liver transplant -MONDO:0866396 rare disorder potentially indicated for kidney transplant GARD:22061 MONDO:equivalentTo Rare disorder potentially indicated for kidney transplant -MONDO:0866397 rare disorder potentially indicated for bowel transplant GARD:22062 MONDO:equivalentTo Rare disorder potentially indicated for bowel transplant -MONDO:0866398 rare disorder potentially indicated for hematopoietic stem cell transplant GARD:22063 MONDO:equivalentTo Rare disorder potentially indicated for hematopoietic stem cell transplant -MONDO:0866399 rare disorder potentially indicated for lung transplant GARD:22064 MONDO:equivalentTo Rare disorder potentially indicated for lung transplant -MONDO:0866400 rare disorder potentially indicated for heart transplant GARD:22065 MONDO:equivalentTo Rare disorder potentially indicated for heart transplant -MONDO:0866401 stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome GARD:22066 MONDO:equivalentTo Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome -MONDO:0866402 familial intestinal malrotation GARD:22067 MONDO:equivalentTo Familial intestinal malrotation -MONDO:0866403 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome GARD:22068 MONDO:equivalentTo Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome -MONDO:0866404 oral-facial-digital syndrome with short stature and brachymesophalangy GARD:22069 MONDO:equivalentTo Oral-facial-digital syndrome with short stature and brachymesophalangy -MONDO:0866405 exstrophy-epispadias complex GARD:2207 MONDO:equivalentTo Exstrophy-epispadias complex -MONDO:0866406 skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome GARD:22070 MONDO:equivalentTo Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome -MONDO:0866407 congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome GARD:22071 MONDO:equivalentTo Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome -MONDO:0866408 chronic lymphoproliferative disorder of natural killer cells GARD:22072 MONDO:equivalentTo Chronic lymphoproliferative disorder of natural killer cells -MONDO:0866409 large granular lymphocyte leukemia GARD:22073 MONDO:equivalentTo Large granular lymphocyte leukemia -MONDO:0866410 autosomal recessive epidermolytic ichthyosis GARD:22074 MONDO:equivalentTo Autosomal recessive epidermolytic ichthyosis -MONDO:0866411 congenital cerebellar ataxia due to rnu12 mutation GARD:22075 MONDO:equivalentTo Congenital cerebellar ataxia due to RNU12 mutation -MONDO:0866412 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome GARD:22076 MONDO:equivalentTo Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome -MONDO:0866413 atp13a2-related parkinsonism GARD:22077 MONDO:equivalentTo ATP13A2-related parkinsonism -MONDO:0866414 inflammatory/autoimmune disorder involving the lacrimal system GARD:22078 MONDO:equivalentTo Inflammatory/autoimmune disorder involving the lacrimal system -MONDO:0866415 rare disorder of the ocular adnexa GARD:22079 MONDO:equivalentTo Rare disorder of the ocular adnexa -MONDO:0866416 rare disorder with ectropion GARD:22080 MONDO:equivalentTo Rare disorder with ectropion -MONDO:0866417 rare disorder with entropion GARD:22081 MONDO:equivalentTo Rare disorder with entropion -MONDO:0866418 structural developmental eye defect GARD:22082 MONDO:equivalentTo Structural developmental eye defect -MONDO:0866419 syndromic lacrimal system disorder GARD:22083 MONDO:equivalentTo Syndromic lacrimal system disorder -MONDO:0866420 anterior segment developmental abnormality with extraocular manifestations GARD:22084 MONDO:equivalentTo Anterior segment developmental abnormality with extraocular manifestations -MONDO:0866421 infective keratitis GARD:22085 MONDO:equivalentTo Infective keratitis -MONDO:0866422 rare conjunctivitis GARD:22086 MONDO:equivalentTo Rare conjunctivitis -MONDO:0866423 rare corneal disorder GARD:22087 MONDO:equivalentTo Rare corneal disorder -MONDO:0866424 rare disorder of the anterior segment of the eye GARD:22088 MONDO:equivalentTo Rare disorder of the anterior segment of the eye -MONDO:0866425 rare disorder of the pupil GARD:22089 MONDO:equivalentTo Rare disorder of the pupil -MONDO:0866426 rare disorder with corneal involvement as a major feature GARD:22090 MONDO:equivalentTo Rare disorder with corneal involvement as a major feature -MONDO:0866427 rare inflammatory/autoimmune corneal disorder GARD:22091 MONDO:equivalentTo Rare inflammatory/autoimmune corneal disorder -MONDO:0866428 syndromic ectopia lentis GARD:22092 MONDO:equivalentTo Syndromic ectopia lentis -MONDO:0866429 syndromic microspherophakia GARD:22093 MONDO:equivalentTo Syndromic microspherophakia -MONDO:0866430 rare disorder with pigmented sclera GARD:22094 MONDO:equivalentTo Rare disorder with pigmented sclera -MONDO:0866431 rare scleral disorder GARD:22095 MONDO:equivalentTo Rare scleral disorder -MONDO:0866432 isolated chorioretinal dystrophy GARD:22096 MONDO:equivalentTo Isolated chorioretinal dystrophy -MONDO:0866433 isolated macular dystrophy GARD:22097 MONDO:equivalentTo Isolated macular dystrophy -MONDO:0866434 isolated vitreoretinopathy GARD:22098 MONDO:equivalentTo Isolated vitreoretinopathy -MONDO:0866435 isolated progressive inherited retinal disorder GARD:22099 MONDO:equivalentTo Isolated progressive inherited retinal disorder -MONDO:0866436 dilated cardiomyopathy GARD:221 MONDO:equivalentTo Dilated cardiomyopathy -MONDO:0866437 rare choroidal disorder GARD:22100 MONDO:equivalentTo Rare choroidal disorder -MONDO:0866438 rare disorder of the posterior segment of the eye GARD:22101 MONDO:equivalentTo Rare disorder of the posterior segment of the eye -MONDO:0866439 rare macular disorder GARD:22102 MONDO:equivalentTo Rare macular disorder -MONDO:0866440 rare retinal disorder GARD:22103 MONDO:equivalentTo Rare retinal disorder -MONDO:0866441 rare retinal vasculopathy GARD:22104 MONDO:equivalentTo Rare retinal vasculopathy -MONDO:0866442 isolated stationary inherited retinal disorder GARD:22105 MONDO:equivalentTo Isolated stationary inherited retinal disorder -MONDO:0866443 syndromic chorioretinal dystrophy GARD:22106 MONDO:equivalentTo Syndromic chorioretinal dystrophy -MONDO:0866444 syndromic macular dystrophy GARD:22107 MONDO:equivalentTo Syndromic macular dystrophy -MONDO:0866445 syndromic inherited retinal disorder GARD:22108 MONDO:equivalentTo Syndromic inherited retinal disorder -MONDO:0866446 syndromic vitreoretinopathy GARD:22109 MONDO:equivalentTo Syndromic vitreoretinopathy -MONDO:0866447 rare disorder involving multiple structures of the eye GARD:22110 MONDO:equivalentTo Rare disorder involving multiple structures of the eye -MONDO:0866448 secondary early-onset glaucoma GARD:22111 MONDO:equivalentTo Secondary early-onset glaucoma -MONDO:0866449 congenital optic disc excavation GARD:22112 MONDO:equivalentTo Congenital optic disc excavation -MONDO:0866450 disorder with optic nerve compression GARD:22113 MONDO:equivalentTo Disorder with optic nerve compression -MONDO:0866451 pseudopapilledema GARD:22114 MONDO:equivalentTo Pseudopapilledema -MONDO:0866452 rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature GARD:22115 MONDO:equivalentTo Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0866453 rare ophthalmic disorder with cortical involvement GARD:22116 MONDO:equivalentTo Rare ophthalmic disorder with cortical involvement -MONDO:0866454 rare disorder with optic disc malformation GARD:22117 MONDO:equivalentTo Rare disorder with optic disc malformation -MONDO:0866455 rare neuromuscular disorder with ocular motility/alignment anomaly GARD:22118 MONDO:equivalentTo Rare neuromuscular disorder with ocular motility/alignment anomaly -MONDO:0866456 rare ophthalmic disorder with cranial nerve involvement GARD:22119 MONDO:equivalentTo Rare ophthalmic disorder with cranial nerve involvement -MONDO:0866457 rare optic nerve disorder GARD:22120 MONDO:equivalentTo Rare optic nerve disorder -MONDO:0866458 rare trochlear nerve disorder GARD:22121 MONDO:equivalentTo Rare trochlear nerve disorder -MONDO:0866459 rare ocular motility/alignment disorder GARD:22122 MONDO:equivalentTo Rare ocular motility/alignment disorder -MONDO:0866460 isolated congenital entropion GARD:22123 MONDO:equivalentTo Isolated congenital entropion -MONDO:0866461 isolated blepharochalasis GARD:22124 MONDO:equivalentTo Isolated blepharochalasis -MONDO:0866462 isolated iridoschisis GARD:22125 MONDO:equivalentTo Isolated iridoschisis -MONDO:0866463 isolated microspherophakia GARD:22126 MONDO:equivalentTo Isolated microspherophakia -MONDO:0866464 isolated foveal hypoplasia GARD:22127 MONDO:equivalentTo Isolated foveal hypoplasia -MONDO:0866465 peripapillary staphyloma GARD:22128 MONDO:equivalentTo Peripapillary staphyloma -MONDO:0866466 isolated megalopapilla GARD:22129 MONDO:equivalentTo Isolated megalopapilla -MONDO:0866467 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome GARD:2213 MONDO:equivalentTo Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome -MONDO:0866468 optic disc pit GARD:22130 MONDO:equivalentTo Optic disc pit -MONDO:0866469 thygeson superficial punctate keratitis GARD:22131 MONDO:equivalentTo Thygeson superficial punctate keratitis -MONDO:0866470 mooren ulcer GARD:22132 MONDO:equivalentTo Mooren ulcer -MONDO:0866471 terrien marginal degeneration GARD:22133 MONDO:equivalentTo Terrien marginal degeneration -MONDO:0866472 fungal keratitis GARD:22134 MONDO:equivalentTo Fungal keratitis -MONDO:0866473 rare disorder of the visual organs GARD:22135 MONDO:equivalentTo Rare disorder of the visual organs -MONDO:0866474 isolated inherited retinal disorder GARD:22136 MONDO:equivalentTo Isolated inherited retinal disorder -MONDO:0866475 radiation-induced plexopathy GARD:22137 MONDO:equivalentTo Radiation-induced plexopathy -MONDO:0866476 osteoradionecrosis of the mandible GARD:22138 MONDO:equivalentTo Osteoradionecrosis of the mandible -MONDO:0866477 radiation-induced disorder GARD:22139 MONDO:equivalentTo Radiation-induced disorder -MONDO:0866478 genetic primary orthostatic disorder GARD:22140 MONDO:equivalentTo Genetic primary orthostatic disorder -MONDO:0866479 primary orthostatic disorder GARD:22141 MONDO:equivalentTo Primary orthostatic disorder -MONDO:0866480 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome GARD:22142 MONDO:equivalentTo Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome -MONDO:0866481 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect GARD:22143 MONDO:equivalentTo Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect -MONDO:0866482 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome GARD:22144 MONDO:equivalentTo Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome -MONDO:0866483 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome GARD:22145 MONDO:equivalentTo Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome -MONDO:0866484 lama5-related multisystemic syndrome GARD:22146 MONDO:equivalentTo LAMA5-related multisystemic syndrome -MONDO:0866485 primary autoimmune enteropathy GARD:22147 MONDO:equivalentTo Primary autoimmune enteropathy -MONDO:0866486 syndromic autoimmune enteropathy GARD:22148 MONDO:equivalentTo Syndromic autoimmune enteropathy -MONDO:0866487 rare genetic disorder of the visual organs GARD:22149 MONDO:equivalentTo Rare genetic disorder of the visual organs -MONDO:0866488 rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature GARD:22150 MONDO:equivalentTo Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature -MONDO:0866489 rare genetic ophthalmic disorder with cortical involvement GARD:22151 MONDO:equivalentTo Rare genetic ophthalmic disorder with cortical involvement -MONDO:0866490 rare genetic ophthalmic disorder with cranial nerve involvement GARD:22152 MONDO:equivalentTo Rare genetic ophthalmic disorder with cranial nerve involvement -MONDO:0866491 rare genetic optic nerve disorder GARD:22153 MONDO:equivalentTo Rare genetic optic nerve disorder -MONDO:0866492 congenital optic disc excavation of genetic origin GARD:22154 MONDO:equivalentTo Congenital optic disc excavation of genetic origin -MONDO:0866493 rare genetic ocular motility/alignment disorder GARD:22155 MONDO:equivalentTo Rare genetic ocular motility/alignment disorder -MONDO:0866494 rare genetic disorder with strabismus GARD:22156 MONDO:equivalentTo Rare genetic disorder with strabismus -MONDO:0866495 syndromic genetic disorder with strabismus GARD:22157 MONDO:equivalentTo Syndromic genetic disorder with strabismus -MONDO:0866496 rare genetic neuromuscular disorder with ocular motility/alignment anomaly GARD:22158 MONDO:equivalentTo Rare genetic neuromuscular disorder with ocular motility/alignment anomaly -MONDO:0866497 rare genetic disorder of the ocular adnexa GARD:22159 MONDO:equivalentTo Rare genetic disorder of the ocular adnexa -MONDO:0866498 eyebrow duplication-syndactyly syndrome GARD:2216 MONDO:equivalentTo Eyebrow duplication-syndactyly syndrome -MONDO:0866499 rare genetic palpebral disorder GARD:22160 MONDO:equivalentTo Rare genetic palpebral disorder -MONDO:0866500 rare genetic eyelid malposition disorder GARD:22161 MONDO:equivalentTo Rare genetic eyelid malposition disorder -MONDO:0866501 rare genetic disorder with entropion GARD:22162 MONDO:equivalentTo Rare genetic disorder with entropion -MONDO:0866502 rare genetic disorder of the lacrimal apparatus GARD:22163 MONDO:equivalentTo Rare genetic disorder of the lacrimal apparatus -MONDO:0866503 lacrimal drainage system anomaly of genetic origin GARD:22164 MONDO:equivalentTo Lacrimal drainage system anomaly of genetic origin -MONDO:0866504 structural developmental eye defect of genetic origin GARD:22165 MONDO:equivalentTo Structural developmental eye defect of genetic origin -MONDO:0866505 rare genetic disorder of the anterior segment of the eye GARD:22166 MONDO:equivalentTo Rare genetic disorder of the anterior segment of the eye -MONDO:0866506 anterior segment developmental anomaly of genetic origin GARD:22167 MONDO:equivalentTo Anterior segment developmental anomaly of genetic origin -MONDO:0866507 rare genetic disorder with conjunctival involvement as a major feature GARD:22168 MONDO:equivalentTo Rare genetic disorder with conjunctival involvement as a major feature -MONDO:0866508 rare genetic disorder with lens opacification GARD:22169 MONDO:equivalentTo Rare genetic disorder with lens opacification -MONDO:0866509 syndromic genetic cataract GARD:22170 MONDO:equivalentTo Syndromic genetic cataract -MONDO:0866510 lens size anomaly of genetic origin GARD:22171 MONDO:equivalentTo Lens size anomaly of genetic origin -MONDO:0866511 lens position anomaly of genetic origin GARD:22172 MONDO:equivalentTo Lens position anomaly of genetic origin -MONDO:0866512 syndromic genetic ectopia lentis GARD:22173 MONDO:equivalentTo Syndromic genetic ectopia lentis -MONDO:0866513 rare genetic corneal disorder GARD:22174 MONDO:equivalentTo Rare genetic corneal disorder -MONDO:0866514 rare genetic disorder with corneal involvement as a major feature GARD:22175 MONDO:equivalentTo Rare genetic disorder with corneal involvement as a major feature -MONDO:0866515 genetic corneal dystrophy GARD:22176 MONDO:equivalentTo Genetic corneal dystrophy -MONDO:0866516 genetic superficial corneal dystrophy GARD:22177 MONDO:equivalentTo Genetic superficial corneal dystrophy -MONDO:0866517 syndromic genetic keratoconus GARD:22178 MONDO:equivalentTo Syndromic genetic keratoconus -MONDO:0866518 rare genetic inflammatory/autoimmune corneal disorder GARD:22179 MONDO:equivalentTo Rare genetic inflammatory/autoimmune corneal disorder -MONDO:0866519 rare genetic disorder of the pupil GARD:22180 MONDO:equivalentTo Rare genetic disorder of the pupil -MONDO:0866520 rare genetic disorder of the posterior segment of the eye GARD:22181 MONDO:equivalentTo Rare genetic disorder of the posterior segment of the eye -MONDO:0866521 rare genetic retinal disorder GARD:22182 MONDO:equivalentTo Rare genetic retinal disorder -MONDO:0866522 rare genetic macular disorder GARD:22183 MONDO:equivalentTo Rare genetic macular disorder -MONDO:0866523 rare genetic retinal vasculopathy GARD:22184 MONDO:equivalentTo Rare genetic retinal vasculopathy -MONDO:0866524 rare genetic disorder involving multiple structures of the eye GARD:22185 MONDO:equivalentTo Rare genetic disorder involving multiple structures of the eye -MONDO:0866525 secondary early-onset glaucoma of genetic origin GARD:22186 MONDO:equivalentTo Secondary early-onset glaucoma of genetic origin -MONDO:0866526 rare genetic choroidal disorder GARD:22187 MONDO:equivalentTo Rare genetic choroidal disorder -MONDO:0866527 pediatric-onset glaucoma GARD:22188 MONDO:equivalentTo Pediatric-onset glaucoma -MONDO:0866528 genetic congenital malformation of the eye with glaucoma as a major feature GARD:22189 MONDO:equivalentTo Genetic congenital malformation of the eye with glaucoma as a major feature -MONDO:0866529 pediatric-onset graves disease GARD:22190 MONDO:equivalentTo Pediatric-onset Graves disease -MONDO:0866530 prepubertal anorexia nervosa GARD:22191 MONDO:equivalentTo Prepubertal anorexia nervosa -MONDO:0866531 encephalopathy due to mitochondrial and peroxisomal fission defect GARD:22192 MONDO:equivalentTo Encephalopathy due to mitochondrial and peroxisomal fission defect -MONDO:0866532 diaphragmatic hernia-short bowel-asplenia syndrome GARD:22193 MONDO:equivalentTo Diaphragmatic hernia-short bowel-asplenia syndrome -MONDO:0866533 hereditary angioedema with c1inh deficiency GARD:22194 MONDO:equivalentTo Hereditary angioedema with C1Inh deficiency -MONDO:0866534 hereditary angioedema with normal c1inh GARD:22195 MONDO:equivalentTo Hereditary angioedema with normal C1Inh -MONDO:0866535 acquired angioedema with c1inh deficiency GARD:22196 MONDO:equivalentTo Acquired angioedema with C1Inh deficiency -MONDO:0866536 acute bilirubin encephalopathy GARD:22197 MONDO:equivalentTo Acute bilirubin encephalopathy -MONDO:0866537 chronic bilirubin encephalopathy GARD:22198 MONDO:equivalentTo Chronic bilirubin encephalopathy -MONDO:0866538 letrozole toxicity GARD:22199 MONDO:equivalentTo Letrozole toxicity -MONDO:0866539 combined hepatocellular carcinoma and cholangiocarcinoma GARD:22200 MONDO:equivalentTo Combined hepatocellular carcinoma and cholangiocarcinoma -MONDO:0866540 secondary erythromelalgia GARD:22201 MONDO:equivalentTo Secondary erythromelalgia -MONDO:0866541 17q24.2 microdeletion syndrome GARD:22202 MONDO:equivalentTo 17q24.2 microdeletion syndrome -MONDO:0866542 immune dysregulation with inflammatory bowel disease GARD:22203 MONDO:equivalentTo Immune dysregulation with inflammatory bowel disease -MONDO:0866543 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome GARD:22204 MONDO:equivalentTo Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome -MONDO:0866544 inflammatory bowel disease-recurrent sinopulmonary infections syndrome GARD:22205 MONDO:equivalentTo Inflammatory bowel disease-recurrent sinopulmonary infections syndrome -MONDO:0866545 dermoid or epidermoid cyst of the central nervous system GARD:22206 MONDO:equivalentTo Dermoid or epidermoid cyst of the central nervous system -MONDO:0866546 progressive myoclonic epilepsy with neuroserpin inclusion bodies GARD:22207 MONDO:equivalentTo Progressive myoclonic epilepsy with neuroserpin inclusion bodies -MONDO:0866547 progressive dementia with neuroserpin inclusion bodies GARD:22208 MONDO:equivalentTo Progressive dementia with neuroserpin inclusion bodies -MONDO:0866548 pik3ca-related overgrowth syndrome GARD:22209 MONDO:equivalentTo PIK3CA-related overgrowth syndrome -MONDO:0866549 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome GARD:2221 MONDO:equivalentTo Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome -MONDO:0866550 rela fusion-positive ependymoma GARD:22210 MONDO:equivalentTo RELA fusion-positive ependymoma -MONDO:0866551 lamb-shaffer syndrome GARD:22211 MONDO:equivalentTo Lamb-Shaffer syndrome -MONDO:0866552 9q21.13 microdeletion syndrome GARD:22212 MONDO:equivalentTo 9q21.13 microdeletion syndrome -MONDO:0866553 rasopathy GARD:22213 MONDO:equivalentTo RASopathy -MONDO:0866554 spondylodysplastic ehlers-danlos syndrome GARD:22214 MONDO:equivalentTo Spondylodysplastic Ehlers-Danlos syndrome -MONDO:0866555 myopathic ehlers-danlos syndrome GARD:22215 MONDO:equivalentTo Myopathic Ehlers-Danlos syndrome -MONDO:0866556 kyphoscoliotic ehlers-danlos syndrome due to lysyl hydroxylase 1 deficiency GARD:22216 MONDO:equivalentTo Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency -MONDO:0866557 plg-related hereditary angioedema with normal c1inh GARD:22217 MONDO:equivalentTo PLG-related hereditary angioedema with normal C1Inh -MONDO:0866558 congenital axonal neuropathy with encephalopathy GARD:22218 MONDO:equivalentTo Congenital axonal neuropathy with encephalopathy -MONDO:0866559 neurological channelopathy of the central nervous system due to a genetic chloride channel defect GARD:22219 MONDO:equivalentTo Neurological channelopathy of the central nervous system due to a genetic chloride channel defect -MONDO:0866560 facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome GARD:2222 MONDO:equivalentTo Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome -MONDO:0866561 classic pyoderma gangrenosum GARD:22220 MONDO:equivalentTo Classic pyoderma gangrenosum -MONDO:0866562 pustular pyoderma gangrenosum GARD:22221 MONDO:equivalentTo Pustular pyoderma gangrenosum -MONDO:0866563 bullous pyoderma gangrenosum GARD:22222 MONDO:equivalentTo Bullous pyoderma gangrenosum -MONDO:0866564 vegetative pyoderma gangrenosum GARD:22223 MONDO:equivalentTo Vegetative pyoderma gangrenosum -MONDO:0866565 anomalous aortic origin of the left coronary artery GARD:22224 MONDO:equivalentTo Anomalous aortic origin of the left coronary artery -MONDO:0866566 anomalous aortic origin of the right coronary artery GARD:22225 MONDO:equivalentTo Anomalous aortic origin of the right coronary artery -MONDO:0866567 anomalous aortic origin of coronary artery GARD:22226 MONDO:equivalentTo Anomalous aortic origin of coronary artery -MONDO:0866568 anomalous origin of coronary artery from the pulmonary artery GARD:22227 MONDO:equivalentTo Anomalous origin of coronary artery from the pulmonary artery -MONDO:0866569 car t cell therapy-associated cytokine release syndrome GARD:22228 MONDO:equivalentTo CAR T cell therapy-associated cytokine release syndrome -MONDO:0866570 quadricuspid aortic valve GARD:22229 MONDO:equivalentTo Quadricuspid aortic valve -MONDO:0866571 anomaly of the coronary ostia GARD:22230 MONDO:equivalentTo Anomaly of the coronary ostia -MONDO:0866572 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome GARD:22231 MONDO:equivalentTo Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome -MONDO:0866573 syngap1-related developmental and epileptic encephalopathy GARD:22232 MONDO:equivalentTo SYNGAP1-related developmental and epileptic encephalopathy -MONDO:0866574 hemolytic uremic syndrome GARD:22233 MONDO:equivalentTo Hemolytic uremic syndrome -MONDO:0866575 infection-related hemolytic uremic syndrome GARD:22234 MONDO:equivalentTo Infection-related hemolytic uremic syndrome -MONDO:0866576 streptococcus pneumoniae-associated hemolytic uremic syndrome GARD:22235 MONDO:equivalentTo Streptococcus pneumoniae-associated hemolytic uremic syndrome -MONDO:0866577 congenital primary megaureter, refluxing and obstructed form GARD:22236 MONDO:equivalentTo Congenital primary megaureter, refluxing and obstructed form -MONDO:0866578 collagen-related glomerular basement membrane disease GARD:22237 MONDO:equivalentTo Collagen-related glomerular basement membrane disease -MONDO:0866579 atypical fanconi syndrome-neonatal hyperinsulinism syndrome GARD:22238 MONDO:equivalentTo Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome -MONDO:0866580 fibrohistiocytic inflammatory pseudotumor of the liver GARD:22239 MONDO:equivalentTo Fibrohistiocytic inflammatory pseudotumor of the liver -MONDO:0866581 lymphoplasmacytic inflammatory pseudotumor of the liver GARD:22240 MONDO:equivalentTo Lymphoplasmacytic inflammatory pseudotumor of the liver -MONDO:0866582 congenital tricuspid valve dysplasia GARD:22241 MONDO:equivalentTo Congenital tricuspid valve dysplasia -MONDO:0866583 iga pemphigus GARD:22242 MONDO:equivalentTo IgA pemphigus -MONDO:0866584 early-onset familial hypoaldosteronism GARD:22243 MONDO:equivalentTo Early-onset familial hypoaldosteronism -MONDO:0866585 late-onset familial hypoaldosteronism GARD:22244 MONDO:equivalentTo Late-onset familial hypoaldosteronism -MONDO:0866586 rare disorder due to poisoning GARD:22245 MONDO:equivalentTo Rare disorder due to poisoning -MONDO:0866587 early-onset calcifying leukoencephalopathy-skeletal dysplasia GARD:22246 MONDO:equivalentTo Early-onset calcifying leukoencephalopathy-skeletal dysplasia -MONDO:0866588 spastic ataxia-dysarthria due to glutaminase deficiency GARD:22247 MONDO:equivalentTo Spastic ataxia-dysarthria due to glutaminase deficiency -MONDO:0866589 rare disorder with hirschsprung disease as a major feature GARD:22248 MONDO:equivalentTo Rare disorder with Hirschsprung disease as a major feature -MONDO:0866590 idiopathic gastroparesis GARD:22249 MONDO:equivalentTo Idiopathic gastroparesis -MONDO:0866591 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome GARD:22250 MONDO:equivalentTo Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome -MONDO:0866592 autoimmune hepatitis type 1 GARD:22251 MONDO:equivalentTo Autoimmune hepatitis type 1 -MONDO:0866593 autoimmune hepatitis type 2 GARD:22252 MONDO:equivalentTo Autoimmune hepatitis type 2 -MONDO:0866594 seronegative autoimmune hepatitis GARD:22253 MONDO:equivalentTo Seronegative autoimmune hepatitis -MONDO:0866595 isolated anencephaly GARD:22254 MONDO:equivalentTo Isolated anencephaly -MONDO:0866596 isolated exencephaly GARD:22255 MONDO:equivalentTo Isolated exencephaly -MONDO:0866597 serous cystadenoma of childhood GARD:22256 MONDO:equivalentTo Serous cystadenoma of childhood -MONDO:0866598 mucinous cystadenoma of childhood GARD:22257 MONDO:equivalentTo Mucinous cystadenoma of childhood -MONDO:0866599 seromucinous cystadenoma of childhood GARD:22258 MONDO:equivalentTo Seromucinous cystadenoma of childhood -MONDO:0866600 furuncular myiasis due to dermatobia hominis GARD:22259 MONDO:equivalentTo Furuncular myiasis due to Dermatobia hominis -MONDO:0866601 furuncular myiasis due to cordylobia anthropophaga GARD:22260 MONDO:equivalentTo Furuncular myiasis due to Cordylobia anthropophaga -MONDO:0866602 furuncular myiasis due to cordylobia rodhaini GARD:22261 MONDO:equivalentTo Furuncular myiasis due to Cordylobia rodhaini -MONDO:0866603 syndromic congenital sodium diarrhea GARD:22262 MONDO:equivalentTo Syndromic congenital sodium diarrhea -MONDO:0866604 isolated congenital aglossia GARD:22263 MONDO:equivalentTo Isolated congenital aglossia -MONDO:0866605 isolated congenital hypoglossia GARD:22264 MONDO:equivalentTo Isolated congenital hypoglossia -MONDO:0866606 genetic nephrotic syndrome GARD:22265 MONDO:equivalentTo Genetic nephrotic syndrome -MONDO:0866607 primary hypomagnesemia-refractory seizures-intellectual disability syndrome GARD:22266 MONDO:equivalentTo Primary hypomagnesemia-refractory seizures-intellectual disability syndrome -MONDO:0866608 triglyceride deposit cardiomyovasculopathy GARD:22267 MONDO:equivalentTo Triglyceride deposit cardiomyovasculopathy -MONDO:0866609 primary desmosis coli GARD:22268 MONDO:equivalentTo Primary desmosis coli -MONDO:0866610 methotrexate toxicity GARD:22269 MONDO:equivalentTo Methotrexate toxicity -MONDO:0866611 laminin subunit alpha 2-related limb-girdle muscular dystrophy r23 GARD:22270 MONDO:equivalentTo Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 -MONDO:0866612 pomgnt2-related limb-girdle muscular dystrophy r24 GARD:22271 MONDO:equivalentTo POMGNT2-related limb-girdle muscular dystrophy R24 -MONDO:0866613 calpain-3-related limb-girdle muscular dystrophy d4 GARD:22272 MONDO:equivalentTo Calpain-3-related limb-girdle muscular dystrophy D4 -MONDO:0866614 cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome GARD:22273 MONDO:equivalentTo CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome -MONDO:0866615 congenital autosomal recessive small-platelet thrombocytopenia GARD:22274 MONDO:equivalentTo Congenital autosomal recessive small-platelet thrombocytopenia -MONDO:0866616 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha GARD:22275 MONDO:equivalentTo Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha -MONDO:0866617 acute mast cell leukemia GARD:22276 MONDO:equivalentTo Acute mast cell leukemia -MONDO:0866618 chronic mast cell leukemia GARD:22277 MONDO:equivalentTo Chronic mast cell leukemia -MONDO:0866619 liver adenomatosis GARD:22278 MONDO:equivalentTo Liver adenomatosis -MONDO:0866620 aprosencephaly/atelencephaly spectrum GARD:22279 MONDO:equivalentTo Aprosencephaly/atelencephaly spectrum -MONDO:0866621 atelencephaly GARD:22280 MONDO:equivalentTo Atelencephaly -MONDO:0866622 aprosencephaly GARD:22281 MONDO:equivalentTo Aprosencephaly -MONDO:0866623 left sided atrial isomerism GARD:22282 MONDO:equivalentTo Left sided atrial isomerism -MONDO:0866624 mueller-weiss syndrome GARD:22283 MONDO:equivalentTo Mueller-Weiss syndrome -MONDO:0866625 b-cell immunodeficiency-limb anomaly-urogenital malformation syndrome GARD:22284 MONDO:equivalentTo B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome -MONDO:0866626 idiopathic non-lupus full-house nephropathy GARD:22285 MONDO:equivalentTo Idiopathic non-lupus full-house nephropathy -MONDO:0866627 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance GARD:22286 MONDO:equivalentTo Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance -MONDO:0866628 idiopathic multidrug-resistant nephrotic syndrome GARD:22287 MONDO:equivalentTo Idiopathic multidrug-resistant nephrotic syndrome -MONDO:0866629 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy GARD:22288 MONDO:equivalentTo Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy -MONDO:0866630 systemic disease with glomerulopathy as a major feature GARD:22289 MONDO:equivalentTo Systemic disease with glomerulopathy as a major feature -MONDO:0866631 lethal faciocardiomelic dysplasia GARD:2229 MONDO:equivalentTo Lethal faciocardiomelic dysplasia -MONDO:0866632 genetic systemic disease with glomerulopathy as a major feature GARD:22290 MONDO:equivalentTo Genetic systemic disease with glomerulopathy as a major feature -MONDO:0866633 non-genetic systemic disease with glomerulopathy as a major feature GARD:22291 MONDO:equivalentTo Non-genetic systemic disease with glomerulopathy as a major feature -MONDO:0866634 systemic vasculitis associated with glomerulopathy GARD:22292 MONDO:equivalentTo Systemic vasculitis associated with glomerulopathy -MONDO:0866635 disorder with multisystemic involvement and glomerulopathy GARD:22293 MONDO:equivalentTo Disorder with multisystemic involvement and glomerulopathy -MONDO:0866636 nephrotic syndrome without extrarenal manifestations GARD:22294 MONDO:equivalentTo Nephrotic syndrome without extrarenal manifestations -MONDO:0866637 parenteral nutrition-associated cholestasis GARD:22295 MONDO:equivalentTo Parenteral nutrition-associated cholestasis -MONDO:0866638 primary lymphedema without systemic or visceral involvement GARD:22296 MONDO:equivalentTo Primary lymphedema without systemic or visceral involvement -MONDO:0866639 primary lymphedema with systemic or visceral involvement GARD:22297 MONDO:equivalentTo Primary lymphedema with systemic or visceral involvement -MONDO:0866640 disorder with multisystemic involvement and primary lymphedema GARD:22298 MONDO:equivalentTo Disorder with multisystemic involvement and primary lymphedema -MONDO:0866641 gjc2-related late-onset primary lymphedema GARD:22299 MONDO:equivalentTo GJC2-related late-onset primary lymphedema -MONDO:0866642 vestibular schwannoma GARD:223 MONDO:equivalentTo Vestibular schwannoma -MONDO:0866643 faciocardiorenal syndrome GARD:2230 MONDO:equivalentTo Faciocardiorenal syndrome -MONDO:0866644 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome GARD:22300 MONDO:equivalentTo Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome -MONDO:0866645 piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis GARD:22301 MONDO:equivalentTo PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis -MONDO:0866646 ephb4-related lymphatic-related hydrops fetalis GARD:22302 MONDO:equivalentTo EPHB4-related lymphatic-related hydrops fetalis -MONDO:0866647 angiomatoid fibrous histiocytoma GARD:22303 MONDO:equivalentTo Angiomatoid fibrous histiocytoma -MONDO:0866648 microcystic stromal tumor GARD:22304 MONDO:equivalentTo Microcystic stromal tumor -MONDO:0866649 multiple mitochondrial dysfunctions syndrome type 5 GARD:22305 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 5 -MONDO:0866650 celsr1-related late-onset primary lymphedema GARD:22306 MONDO:equivalentTo CELSR1-related late-onset primary lymphedema -MONDO:0866651 congenital primary lymphedema of gordon GARD:22307 MONDO:equivalentTo Congenital primary lymphedema of Gordon -MONDO:0866652 bartter syndrome type 5 GARD:22308 MONDO:equivalentTo Bartter syndrome type 5 -MONDO:0866653 idiopathic multicentric castleman disease GARD:22309 MONDO:equivalentTo Idiopathic multicentric Castleman disease -MONDO:0866654 hhv-8-associated multicentric castleman disease GARD:22310 MONDO:equivalentTo HHV-8-associated multicentric Castleman disease -MONDO:0866655 ricin poisoning GARD:22311 MONDO:equivalentTo Ricin poisoning -MONDO:0866656 blepharophimosis-ptosis-epicanthus inversus syndrome plus GARD:22312 MONDO:equivalentTo Blepharophimosis-ptosis-epicanthus inversus syndrome plus -MONDO:0866657 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia GARD:22313 MONDO:equivalentTo Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia -MONDO:0866658 donson-related microcephaly-short stature-limb abnormalities spectrum GARD:22314 MONDO:equivalentTo DONSON-related microcephaly-short stature-limb abnormalities spectrum -MONDO:0866659 pheochromocytoma-paraganglioma GARD:22315 MONDO:equivalentTo Pheochromocytoma-paraganglioma -MONDO:0866660 split cord malformation type ii GARD:22316 MONDO:equivalentTo Split cord malformation type II -MONDO:0866661 split cord malformation GARD:22317 MONDO:equivalentTo Split cord malformation -MONDO:0866662 predisposition to severe viral infection due to irf7 deficiency GARD:22318 MONDO:equivalentTo Predisposition to severe viral infection due to IRF7 deficiency -MONDO:0866663 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency GARD:22319 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency -MONDO:0866664 cathepsin a-related arteriopathy-strokes-leukoencephalopathy GARD:22320 MONDO:equivalentTo Cathepsin A-related arteriopathy-strokes-leukoencephalopathy -MONDO:0866665 middle east respiratory syndrome GARD:22321 MONDO:equivalentTo Middle East respiratory syndrome -MONDO:0866666 complete atrioventricular septal defect without ventricular hypoplasia GARD:22322 MONDO:equivalentTo Complete atrioventricular septal defect without ventricular hypoplasia -MONDO:0866667 partial atrioventricular septal defect with ventricular hypoplasia GARD:22323 MONDO:equivalentTo Partial atrioventricular septal defect with ventricular hypoplasia -MONDO:0866668 partial atrioventricular septal defect without ventricular hypoplasia GARD:22324 MONDO:equivalentTo Partial atrioventricular septal defect without ventricular hypoplasia -MONDO:0866669 intermediate atrioventricular septal defect GARD:22325 MONDO:equivalentTo Intermediate atrioventricular septal defect -MONDO:0866670 satb2-associated syndrome GARD:22326 MONDO:equivalentTo SATB2-associated syndrome -MONDO:0866671 sporadic human prion disease GARD:22327 MONDO:equivalentTo Sporadic human prion disease -MONDO:0866672 acquired human prion disease GARD:22328 MONDO:equivalentTo Acquired human prion disease -MONDO:0866673 iatrogenic creutzfeldt-jakob disease GARD:22329 MONDO:equivalentTo Iatrogenic Creutzfeldt-Jakob disease -MONDO:0866674 genetic hemolytic uremic syndrome GARD:22330 MONDO:equivalentTo Genetic hemolytic uremic syndrome -MONDO:0866675 intraductal tubulopapillary neoplasm of pancreas GARD:22331 MONDO:equivalentTo Intraductal tubulopapillary neoplasm of pancreas -MONDO:0866676 lethal brain and heart developmental defects GARD:22332 MONDO:equivalentTo Lethal brain and heart developmental defects -MONDO:0866677 congenital infiltrating lipomatosis of the face GARD:22333 MONDO:equivalentTo Congenital infiltrating lipomatosis of the face -MONDO:0866678 serine biosynthesis pathway deficiency, infantile/juvenile form GARD:22334 MONDO:equivalentTo Serine biosynthesis pathway deficiency, infantile/juvenile form -MONDO:0866679 neu-laxova syndrome due to phosphoserine aminotransferase deficiency GARD:22335 MONDO:equivalentTo Neu-laxova syndrome due to phosphoserine aminotransferase deficiency -MONDO:0866680 neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency GARD:22336 MONDO:equivalentTo Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency -MONDO:0866681 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency GARD:22337 MONDO:equivalentTo Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency -MONDO:0866682 isolated splenic vein thrombosis GARD:22338 MONDO:equivalentTo Isolated splenic vein thrombosis -MONDO:0866683 isolated mesenteric vein thrombosis GARD:22339 MONDO:equivalentTo Isolated mesenteric vein thrombosis -MONDO:0866684 acute myeloid leukemia with t(9;22)(q34.1;q11.2) GARD:22340 MONDO:equivalentTo Acute myeloid leukemia with t(9;22)(q34.1;q11.2) -MONDO:0866685 b-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality GARD:22341 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality -MONDO:0866686 b-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) GARD:22342 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) -MONDO:0866687 b-lymphoblastic leukemia/lymphoma with t(v;11q23.3) GARD:22343 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) -MONDO:0866688 b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) GARD:22344 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) -MONDO:0866689 b-lymphoblastic leukemia/lymphoma with hyperdiploidy GARD:22345 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with hyperdiploidy -MONDO:0866690 b-lymphoblastic leukemia/lymphoma with hypodiploidy GARD:22346 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with hypodiploidy -MONDO:0866691 b-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) GARD:22347 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) -MONDO:0866692 b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) GARD:22348 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) -MONDO:0866693 sporadic fatal insomnia GARD:22349 MONDO:equivalentTo Sporadic fatal insomnia -MONDO:0866694 short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome GARD:22350 MONDO:equivalentTo Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome -MONDO:0866695 pum1-associated developmental disability-ataxia-seizure syndrome GARD:22351 MONDO:equivalentTo PUM1-associated developmental disability-ataxia-seizure syndrome -MONDO:0866696 spinocerebellar ataxia type 46 GARD:22352 MONDO:equivalentTo Spinocerebellar ataxia type 46 -MONDO:0866697 spinocerebellar ataxia type 45 GARD:22353 MONDO:equivalentTo Spinocerebellar ataxia type 45 -MONDO:0866698 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) GARD:22354 MONDO:equivalentTo Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) -MONDO:0866699 myeloid/lymphoid neoplasm associated with jak2 rearrangement GARD:22355 MONDO:equivalentTo Myeloid/lymphoid neoplasm associated with JAK2 rearrangement -MONDO:0866700 grin2b-related developmental delay, intellectual disability and autism spectrum disorder GARD:22356 MONDO:equivalentTo GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder -MONDO:0866701 mixed phenotype acute leukemia with t(v;11q23.3) GARD:22357 MONDO:equivalentTo Mixed phenotype acute leukemia with t(v;11q23.3) -MONDO:0866702 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies GARD:22358 MONDO:equivalentTo Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies -MONDO:0866703 dystonia 28 GARD:22359 MONDO:equivalentTo Dystonia 28 -MONDO:0866704 inherited gynecological cancer-predisposing syndrome GARD:22360 MONDO:equivalentTo Inherited gynecological cancer-predisposing syndrome -MONDO:0866705 congenital-onset steinert myotonic dystrophy GARD:22361 MONDO:equivalentTo Congenital-onset Steinert myotonic dystrophy -MONDO:0866706 childhood-onset steinert myotonic dystrophy GARD:22362 MONDO:equivalentTo Childhood-onset Steinert myotonic dystrophy -MONDO:0866707 juvenile-onset steinert myotonic dystrophy GARD:22363 MONDO:equivalentTo Juvenile-onset Steinert myotonic dystrophy -MONDO:0866708 adult-onset steinert myotonic dystrophy GARD:22364 MONDO:equivalentTo Adult-onset Steinert myotonic dystrophy -MONDO:0866709 late-onset steinert myotonic dystrophy GARD:22365 MONDO:equivalentTo Late-onset Steinert myotonic dystrophy -MONDO:0866710 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome GARD:22366 MONDO:equivalentTo Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome -MONDO:0866711 phip-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome GARD:22367 MONDO:equivalentTo PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome -MONDO:0866712 isolated melanotic schwannoma GARD:22368 MONDO:equivalentTo Isolated melanotic schwannoma -MONDO:0866713 gnao1-related developmental delay-seizures-movement disorder spectrum GARD:22369 MONDO:equivalentTo GNAO1-related developmental delay-seizures-movement disorder spectrum -MONDO:0866714 congenital factor v deficiency GARD:2237 MONDO:equivalentTo Congenital factor V deficiency -MONDO:0866715 traf7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome GARD:22370 MONDO:equivalentTo TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome -MONDO:0866716 menke-hennekam syndrome GARD:22371 MONDO:equivalentTo Menke-Hennekam syndrome -MONDO:0866717 neuromyelitis optica spectrum disorder with anti-aqp4 antibodies GARD:22372 MONDO:equivalentTo Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies -MONDO:0866718 neuromyelitis optica spectrum disorder with anti-mog antibodies GARD:22373 MONDO:equivalentTo Neuromyelitis optica spectrum disorder with anti-MOG antibodies -MONDO:0866719 neuromyelitis optica spectrum disorder without anti-mog and without anti-aqp4 antibodies GARD:22374 MONDO:equivalentTo Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies -MONDO:0866720 acute transverse myelitis with anti-mog antibodies GARD:22375 MONDO:equivalentTo Acute transverse myelitis with anti-MOG antibodies -MONDO:0866721 isolated optic neuritis without anti-mog antibodies GARD:22376 MONDO:equivalentTo Isolated optic neuritis without anti-MOG antibodies -MONDO:0866722 isolated optic neuritis with anti-mog antibodies GARD:22377 MONDO:equivalentTo Isolated optic neuritis with anti-MOG antibodies -MONDO:0866723 acute disseminated encephalomyelitis with anti-mog antibodies GARD:22378 MONDO:equivalentTo Acute disseminated encephalomyelitis with anti-MOG antibodies -MONDO:0866724 acute disseminated encephalomyelitis without anti-mog antibodies GARD:22379 MONDO:equivalentTo Acute disseminated encephalomyelitis without anti-MOG antibodies -MONDO:0866725 congenital factor vii deficiency GARD:2238 MONDO:equivalentTo Congenital factor VII deficiency -MONDO:0866726 timothy syndrome type 1 GARD:22380 MONDO:equivalentTo Timothy syndrome type 1 -MONDO:0866727 timothy syndrome type 2 GARD:22381 MONDO:equivalentTo Timothy syndrome type 2 -MONDO:0866728 atypical timothy syndrome GARD:22382 MONDO:equivalentTo Atypical Timothy syndrome -MONDO:0866729 perivascular epithelioid cell neoplasm GARD:22383 MONDO:equivalentTo Perivascular epithelioid cell neoplasm -MONDO:0866730 fibrous dysplasia/mccune-albright syndrome GARD:22384 MONDO:equivalentTo Fibrous dysplasia/McCune-Albright syndrome -MONDO:0866731 adrenal hypoplasia congenita GARD:22385 MONDO:equivalentTo Adrenal hypoplasia congenita -MONDO:0866732 epidermolysis bullosa simplex without extracutaneous involvement GARD:22386 MONDO:equivalentTo Epidermolysis bullosa simplex without extracutaneous involvement -MONDO:0866733 epidermolysis bullosa simplex with extracutaneous involvement GARD:22387 MONDO:equivalentTo Epidermolysis bullosa simplex with extracutaneous involvement -MONDO:0866734 localized dystrophic epidermolysis bullosa GARD:22388 MONDO:equivalentTo Localized dystrophic epidermolysis bullosa -MONDO:0866735 antley-bixler syndrome without genital anomaly or disorder of steroidogenesis GARD:22389 MONDO:equivalentTo Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis -MONDO:0866736 syndrome of reduced sensitivity to thyroid hormone GARD:22390 MONDO:equivalentTo Syndrome of reduced sensitivity to thyroid hormone -MONDO:0866737 igg4-related systemic disease GARD:22391 MONDO:equivalentTo IgG4-related systemic disease -MONDO:0866738 combined immunodeficiency due to rela haploinsufficiency GARD:22392 MONDO:equivalentTo Combined immunodeficiency due to RELA haploinsufficiency -MONDO:0866739 portosinusoidal vascular disease GARD:22393 MONDO:equivalentTo Portosinusoidal vascular disease -MONDO:0866740 incomplete septal cirrhosis GARD:22394 MONDO:equivalentTo Incomplete septal cirrhosis -MONDO:0866741 trim22-related inflammatory bowel disease GARD:22395 MONDO:equivalentTo TRIM22-related inflammatory bowel disease -MONDO:0866742 irf2bpl-related regressive neurodevelopmental disorder-dystonia-seizures syndrome GARD:22396 MONDO:equivalentTo IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome -MONDO:0866743 setd2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome GARD:22397 MONDO:equivalentTo SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome -MONDO:0866744 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome GARD:22398 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome -MONDO:0866745 kat6b-related multiple congenital anomalies syndrome GARD:22399 MONDO:equivalentTo KAT6B-related multiple congenital anomalies syndrome -MONDO:0866746 radio-renal syndrome GARD:224 MONDO:equivalentTo Radio-renal syndrome -MONDO:0866747 alpi-related inflammatory bowel disease GARD:22400 MONDO:equivalentTo ALPI-related inflammatory bowel disease -MONDO:0866748 euthyroid dysprealbuminemic hyperthyroxinemia GARD:22401 MONDO:equivalentTo Euthyroid dysprealbuminemic hyperthyroxinemia -MONDO:0866749 foxg1 syndrome due to intragenic alteration GARD:22402 MONDO:equivalentTo FOXG1 syndrome due to intragenic alteration -MONDO:0866750 multisystem inflammatory syndrome in children and adults GARD:22403 MONDO:equivalentTo Multisystem inflammatory syndrome in children and adults -MONDO:0866751 stxbp1-related encephalopathy GARD:22404 MONDO:equivalentTo STXBP1-related encephalopathy -MONDO:0866752 hypomyelination of early myelinating structures GARD:22405 MONDO:equivalentTo Hypomyelination of early myelinating structures -MONDO:0866753 hereditary angioedema with normal c1inh not related to f12 or plg variant GARD:22406 MONDO:equivalentTo Hereditary angioedema with normal C1Inh not related to F12 or PLG variant -MONDO:0866754 acquired hemophilia b GARD:22407 MONDO:equivalentTo Acquired hemophilia B -MONDO:0866755 acquired factor v deficiency GARD:22408 MONDO:equivalentTo Acquired factor V deficiency -MONDO:0866756 acquired factor vii deficiency GARD:22409 MONDO:equivalentTo Acquired factor VII deficiency -MONDO:0866757 acquired factor x deficiency GARD:22410 MONDO:equivalentTo Acquired factor X deficiency -MONDO:0866758 acquired factor xi deficiency GARD:22411 MONDO:equivalentTo Acquired factor XI deficiency -MONDO:0866759 acquired factor xiii deficiency GARD:22412 MONDO:equivalentTo Acquired factor XIII deficiency -MONDO:0866760 factor v short isoforms-related bleeding disorder GARD:22413 MONDO:equivalentTo Factor V short isoforms-related bleeding disorder -MONDO:0866761 factor v amsterdam bleeding disorder GARD:22414 MONDO:equivalentTo Factor V Amsterdam bleeding disorder -MONDO:0866762 factor v atlanta bleeding disorder GARD:22415 MONDO:equivalentTo Factor V Atlanta bleeding disorder -MONDO:0866763 nrxn1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance GARD:22416 MONDO:equivalentTo NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance -MONDO:0866764 ccnk-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome GARD:22417 MONDO:equivalentTo CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome -MONDO:0866765 combined deficiency of factor vii and factor x GARD:22418 MONDO:equivalentTo Combined deficiency of factor VII and factor X -MONDO:0866766 legionellosis GARD:22419 MONDO:equivalentTo Legionellosis -MONDO:0866767 non-syndromic anorectal malformation with perineal fistula GARD:22420 MONDO:equivalentTo Non-syndromic anorectal malformation with perineal fistula -MONDO:0866768 non-syndromic anorectal malformation with rectourethral fistula GARD:22421 MONDO:equivalentTo Non-syndromic anorectal malformation with rectourethral fistula -MONDO:0866769 non-syndromic anorectal malformation with rectourethral fistula, bulbar type GARD:22422 MONDO:equivalentTo Non-syndromic anorectal malformation with rectourethral fistula, bulbar type -MONDO:0866770 non-syndromic anorectal malformation with rectourethral fistula, prostatic type GARD:22423 MONDO:equivalentTo Non-syndromic anorectal malformation with rectourethral fistula, prostatic type -MONDO:0866771 non-syndromic anorectal malformation with rectovesical fistula GARD:22424 MONDO:equivalentTo Non-syndromic anorectal malformation with rectovesical fistula -MONDO:0866772 non-syndromic anorectal malformation with vestibular fistula GARD:22425 MONDO:equivalentTo Non-syndromic anorectal malformation with vestibular fistula -MONDO:0866773 non-syndromic cloacal malformation GARD:22426 MONDO:equivalentTo Non-syndromic cloacal malformation -MONDO:0866774 non-syndromic anorectal malformation without fistula GARD:22427 MONDO:equivalentTo Non-syndromic anorectal malformation without fistula -MONDO:0866775 non-syndromic anorectal malformation with anal stenosis GARD:22428 MONDO:equivalentTo Non-syndromic anorectal malformation with anal stenosis -MONDO:0866776 non-syndromic anorectal malformation with pouch colon GARD:22429 MONDO:equivalentTo Non-syndromic anorectal malformation with pouch colon -MONDO:0866777 non-syndromic anorectal malformation with rectal atresia GARD:22430 MONDO:equivalentTo Non-syndromic anorectal malformation with rectal atresia -MONDO:0866778 non-syndromic anorectal malformation with rectal stenosis GARD:22431 MONDO:equivalentTo Non-syndromic anorectal malformation with rectal stenosis -MONDO:0866779 non-syndromic anorectal malformation with rectovaginal fistula GARD:22432 MONDO:equivalentTo Non-syndromic anorectal malformation with rectovaginal fistula -MONDO:0866780 non-syndromic anorectal malformation with h-type fistula GARD:22433 MONDO:equivalentTo Non-syndromic anorectal malformation with H-type fistula -MONDO:0866781 isolated female hypospadias GARD:22434 MONDO:equivalentTo Isolated female hypospadias -MONDO:0866782 klhl7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome GARD:22435 MONDO:equivalentTo KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome -MONDO:0866783 klhl7-related bohring-opitz-like syndrome GARD:22436 MONDO:equivalentTo KLHL7-related Bohring-Opitz-like syndrome -MONDO:0866784 klhl7-related cold-induced sweating-like syndrome GARD:22437 MONDO:equivalentTo KLHL7-related cold-induced sweating-like syndrome -MONDO:0866785 klhl7-related disorder GARD:22438 MONDO:equivalentTo KLHL7-related disorder -MONDO:0866786 symptomatic form of x-linked centronuclear myopathy in female carriers GARD:22439 MONDO:equivalentTo Symptomatic form of X-linked centronuclear myopathy in female carriers -MONDO:0866787 rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome GARD:22440 MONDO:equivalentTo Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0866788 genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability GARD:22441 MONDO:equivalentTo Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0866789 granuloma faciale GARD:22442 MONDO:equivalentTo Granuloma faciale -MONDO:0866790 chronic intervillositis of unknown etiology GARD:22443 MONDO:equivalentTo Chronic intervillositis of unknown etiology -MONDO:0866791 rare disorder without a determined diagnosis after full investigation GARD:22444 MONDO:equivalentTo Rare disorder without a determined diagnosis after full investigation -MONDO:0866792 twin anemia-polycythemia sequence GARD:22445 MONDO:equivalentTo Twin anemia-polycythemia sequence -MONDO:0866793 twin-reversed arterial perfusion sequence GARD:22446 MONDO:equivalentTo Twin-reversed arterial perfusion sequence -MONDO:0866794 selective intrauterine growth restriction GARD:22447 MONDO:equivalentTo Selective intrauterine growth restriction -MONDO:0866795 amniotic fluid embolism GARD:22448 MONDO:equivalentTo Amniotic fluid embolism -MONDO:0866796 rare disorder related to monochorionic twin pregnancy GARD:22449 MONDO:equivalentTo Rare disorder related to monochorionic twin pregnancy -MONDO:0866797 tetralogy of fallot GARD:2245 MONDO:equivalentTo Tetralogy of Fallot -MONDO:0866798 rare disorder due to unbalanced inter-twin blood transfusion GARD:22450 MONDO:equivalentTo Rare disorder due to unbalanced inter-twin blood transfusion -MONDO:0866799 rare disorder due to inadequate sharing of the placenta GARD:22451 MONDO:equivalentTo Rare disorder due to inadequate sharing of the placenta -MONDO:0866800 classic eosinophilic pustular folliculitis GARD:22452 MONDO:equivalentTo Classic eosinophilic pustular folliculitis -MONDO:0866801 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome GARD:22453 MONDO:equivalentTo Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome -MONDO:0866802 f12-associated cold autoinflammatory syndrome GARD:22454 MONDO:equivalentTo F12-associated cold autoinflammatory syndrome -MONDO:0866803 hemophilia b leyden GARD:22455 MONDO:equivalentTo Hemophilia B Leyden -MONDO:0866804 chronic neurovisceral acid sphingomyelinase deficiency GARD:22456 MONDO:equivalentTo Chronic neurovisceral acid sphingomyelinase deficiency -MONDO:0866805 acid sphingomyelinase deficiency GARD:22457 MONDO:equivalentTo Acid sphingomyelinase deficiency -MONDO:0866806 hereditary persistence of fetal hemoglobin-intellectual disability syndrome GARD:22458 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome -MONDO:0866807 rare hereditary connective tissue disease GARD:22459 MONDO:equivalentTo Rare hereditary connective tissue disease -MONDO:0866808 narcolepsy GARD:22460 MONDO:equivalentTo Narcolepsy -MONDO:0866809 inherited hematologic cancer-predisposing syndrome GARD:22461 MONDO:equivalentTo Inherited hematologic cancer-predisposing syndrome -MONDO:0866810 neonatal-onset severe multisystemic autoinflammatory disease with increased il18 GARD:22462 MONDO:equivalentTo Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 -MONDO:0866811 samd9l-associated autoinflammatory syndrome GARD:22463 MONDO:equivalentTo SAMD9L-associated autoinflammatory syndrome -MONDO:0866812 immune deficiency due to impaired neutrophil phagocytosis and migration GARD:22464 MONDO:equivalentTo Immune deficiency due to impaired neutrophil phagocytosis and migration -MONDO:0866813 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome GARD:22465 MONDO:equivalentTo Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome -MONDO:0866814 familial hyperinflammatory lymphoproliferative immunodeficiency GARD:22466 MONDO:equivalentTo Familial hyperinflammatory lymphoproliferative immunodeficiency -MONDO:0866815 cadins disease GARD:22467 MONDO:equivalentTo CADINS disease -MONDO:0866816 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome GARD:22468 MONDO:equivalentTo Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome -MONDO:0866817 non-syndromic unisutural craniosynostosis GARD:22469 MONDO:equivalentTo Non-syndromic unisutural craniosynostosis -MONDO:0866818 non-syndromic unicoronal craniosynostosis GARD:22470 MONDO:equivalentTo Non-syndromic unicoronal craniosynostosis -MONDO:0866819 non-syndromic unilambdoid craniosynostosis GARD:22471 MONDO:equivalentTo Non-syndromic unilambdoid craniosynostosis -MONDO:0866820 non-syndromic unifrontosphenoidal craniosynostosis GARD:22472 MONDO:equivalentTo Non-syndromic unifrontosphenoidal craniosynostosis -MONDO:0866821 non-syndromic unisquamosal craniosynostosis GARD:22473 MONDO:equivalentTo Non-syndromic unisquamosal craniosynostosis -MONDO:0866822 non-syndromic multisutural craniosynostosis GARD:22474 MONDO:equivalentTo Non-syndromic multisutural craniosynostosis -MONDO:0866823 non-syndromic non-specific multisutural craniosynostosis GARD:22475 MONDO:equivalentTo Non-syndromic non-specific multisutural craniosynostosis -MONDO:0866824 non-syndromic bilambdoid craniosynostosis GARD:22476 MONDO:equivalentTo Non-syndromic bilambdoid craniosynostosis -MONDO:0866825 non-syndromic unicoronal and sagittal craniosynostosis GARD:22477 MONDO:equivalentTo Non-syndromic unicoronal and sagittal craniosynostosis -MONDO:0866826 non-syndromic metopic and sagittal craniosynostosis GARD:22478 MONDO:equivalentTo Non-syndromic metopic and sagittal craniosynostosis -MONDO:0866827 non-syndromic bicoronal and metopic craniosynostosis GARD:22479 MONDO:equivalentTo Non-syndromic bicoronal and metopic craniosynostosis -MONDO:0866828 non-syndromic bicoronal and sagittal craniosynostosis GARD:22480 MONDO:equivalentTo Non-syndromic bicoronal and sagittal craniosynostosis -MONDO:0866829 non-syndromic pansynostosis GARD:22481 MONDO:equivalentTo Non-syndromic pansynostosis -MONDO:0866830 bartter syndrome type 1 GARD:22482 MONDO:equivalentTo Bartter syndrome type 1 -MONDO:0866831 bartter syndrome type 2 GARD:22483 MONDO:equivalentTo Bartter syndrome type 2 -MONDO:0866832 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome GARD:22484 MONDO:equivalentTo Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome -MONDO:0866833 egf-related primary hypomagnesemia with intellectual disability GARD:22485 MONDO:equivalentTo EGF-related primary hypomagnesemia with intellectual disability -MONDO:0866834 gitelman-like kidney tubulopathy due to mitochondrial dna mutation GARD:22486 MONDO:equivalentTo Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation -MONDO:0866835 fibrosis-neurodegeneration-cerebral angiomatosis syndrome GARD:22487 MONDO:equivalentTo Fibrosis-neurodegeneration-cerebral angiomatosis syndrome -MONDO:0866836 genetic autoinflammatory syndrome with skin involvement GARD:22488 MONDO:equivalentTo Genetic autoinflammatory syndrome with skin involvement -MONDO:0866837 rare genetic nevus GARD:22489 MONDO:equivalentTo Rare genetic nevus -MONDO:0866838 familial thoracic aortic aneurysm and aortic dissection GARD:2249 MONDO:equivalentTo Familial thoracic aortic aneurysm and aortic dissection -MONDO:0866839 x-linked severe syndromic thoracic aortic aneurysm and dissection GARD:22490 MONDO:equivalentTo X-linked severe syndromic thoracic aortic aneurysm and dissection -MONDO:0866840 sbds-related severe neonatal spondylometaphyseal dysplasia GARD:22491 MONDO:equivalentTo SBDS-related severe neonatal spondylometaphyseal dysplasia -MONDO:0866841 autoimmune limbic encephalitis GARD:22492 MONDO:equivalentTo Autoimmune limbic encephalitis -MONDO:0866842 paraneoplastic cerebellar degeneration GARD:22493 MONDO:equivalentTo Paraneoplastic cerebellar degeneration -MONDO:0866843 immune-mediated cerebellar ataxia GARD:22494 MONDO:equivalentTo Immune-mediated cerebellar ataxia -MONDO:0866844 mir140-related spondyloepiphyseal dysplasia GARD:22495 MONDO:equivalentTo MIR140-related spondyloepiphyseal dysplasia -MONDO:0866845 body integrity dysphoria GARD:22496 MONDO:equivalentTo Body integrity dysphoria -MONDO:0866846 non-specific autoimmune supratentorial encephalitis with characteristic antibodies GARD:22497 MONDO:equivalentTo Non-specific autoimmune supratentorial encephalitis with characteristic antibodies -MONDO:0866847 non-specific autoimmune supratentorial encephalitis without characteristic antibodies GARD:22498 MONDO:equivalentTo Non-specific autoimmune supratentorial encephalitis without characteristic antibodies -MONDO:0866848 paraneoplastic isolated brainstem encephalitis GARD:22499 MONDO:equivalentTo Paraneoplastic isolated brainstem encephalitis -MONDO:0866849 radial hemimelia GARD:225 MONDO:equivalentTo Radial hemimelia -MONDO:0866850 non-specific autoimmune brainstem encephalitis with characteristic antibodies GARD:22500 MONDO:equivalentTo Non-specific autoimmune brainstem encephalitis with characteristic antibodies -MONDO:0866851 non-specific autoimmune brainstem encephalitis without characteristic antibodies GARD:22501 MONDO:equivalentTo Non-specific autoimmune brainstem encephalitis without characteristic antibodies -MONDO:0866852 postinfectious cerebellitis GARD:22502 MONDO:equivalentTo Postinfectious cerebellitis -MONDO:0866853 non-specific autoimmune cerebellar ataxia with characteristic antibodies GARD:22503 MONDO:equivalentTo Non-specific autoimmune cerebellar ataxia with characteristic antibodies -MONDO:0866854 non-specific autoimmune cerebellar ataxia without characteristic antibodies GARD:22504 MONDO:equivalentTo Non-specific autoimmune cerebellar ataxia without characteristic antibodies -MONDO:0866855 rare teratologic disease GARD:22505 MONDO:equivalentTo Rare teratologic disease -MONDO:0866856 rare hepatic disease GARD:22506 MONDO:equivalentTo Rare hepatic disease -MONDO:0866857 rare maxillo-facial surgical disease GARD:22507 MONDO:equivalentTo Rare maxillo-facial surgical disease -MONDO:0866858 rare inborn errors of metabolism GARD:22508 MONDO:equivalentTo Rare inborn errors of metabolism -MONDO:0866859 rare infectious disease GARD:22509 MONDO:equivalentTo Rare infectious disease -MONDO:0866860 rare skin disease GARD:22510 MONDO:equivalentTo Rare skin disease -MONDO:0866861 rare bone disease GARD:22511 MONDO:equivalentTo Rare bone disease -MONDO:0866862 rare renal disease GARD:22512 MONDO:equivalentTo Rare renal disease -MONDO:0866863 rare developmental defect during embryogenesis GARD:22513 MONDO:equivalentTo Rare developmental defect during embryogenesis -MONDO:0866864 rare gynecologic or obstetric disease GARD:22514 MONDO:equivalentTo Rare gynecologic or obstetric disease -MONDO:0866865 rare cardiac disease GARD:22515 MONDO:equivalentTo Rare cardiac disease -MONDO:0866866 rare gastroenterologic disease GARD:22516 MONDO:equivalentTo Rare gastroenterologic disease -MONDO:0866867 rare respiratory disease GARD:22517 MONDO:equivalentTo Rare respiratory disease -MONDO:0866868 rare surgical thoracic disease GARD:22518 MONDO:equivalentTo Rare surgical thoracic disease -MONDO:0866869 rare surgical cardiac disease GARD:22519 MONDO:equivalentTo Rare surgical cardiac disease -MONDO:0866870 non-acquired combined pituitary hormone deficiency GARD:2252 MONDO:equivalentTo Non-acquired combined pituitary hormone deficiency -MONDO:0866871 rare ophthalmic disorder GARD:22520 MONDO:equivalentTo Rare ophthalmic disorder -MONDO:0866872 rare endocrine disease GARD:22521 MONDO:equivalentTo Rare endocrine disease -MONDO:0866873 rare hematologic disease GARD:22522 MONDO:equivalentTo Rare hematologic disease -MONDO:0866874 rare immune disease GARD:22523 MONDO:equivalentTo Rare immune disease -MONDO:0866875 rare neurologic disease GARD:22524 MONDO:equivalentTo Rare neurologic disease -MONDO:0866876 rare systemic or rheumatologic disease GARD:22525 MONDO:equivalentTo Rare systemic or rheumatologic disease -MONDO:0866877 rare odontologic disease GARD:22526 MONDO:equivalentTo Rare odontologic disease -MONDO:0866878 rare circulatory system disease GARD:22527 MONDO:equivalentTo Rare circulatory system disease -MONDO:0866879 rare otorhinolaryngologic disease GARD:22528 MONDO:equivalentTo Rare otorhinolaryngologic disease -MONDO:0866880 rare infertility GARD:22529 MONDO:equivalentTo Rare infertility -MONDO:0866881 rare allergic disease GARD:22530 MONDO:equivalentTo Rare allergic disease -MONDO:0866882 rare genetic disease GARD:22531 MONDO:equivalentTo Rare genetic disease -MONDO:0866883 rare urogenital disease GARD:22532 MONDO:equivalentTo Rare urogenital disease -MONDO:0866884 rare disorder due to toxic effects GARD:22533 MONDO:equivalentTo Rare disorder due to toxic effects -MONDO:0866885 rare abdominal surgical disease GARD:22534 MONDO:equivalentTo Rare abdominal surgical disease -MONDO:0866886 rare neoplastic disease GARD:22535 MONDO:equivalentTo Rare neoplastic disease -MONDO:0866887 rare disorder potentially indicated for transplant or complication after transplantation GARD:22536 MONDO:equivalentTo Rare disorder potentially indicated for transplant or complication after transplantation -MONDO:0866888 familial nasal acilia GARD:2254 MONDO:equivalentTo Familial nasal acilia -MONDO:0866889 polydactyly of an index finger GARD:2256 MONDO:equivalentTo Polydactyly of an index finger -MONDO:0866890 autosomal dominant epilepsy with auditory features GARD:2257 MONDO:equivalentTo Autosomal dominant epilepsy with auditory features -MONDO:0866891 familial porencephaly GARD:2258 MONDO:equivalentTo Familial porencephaly -MONDO:0866892 familial supernumerary nipples GARD:2259 MONDO:equivalentTo Familial supernumerary nipples -MONDO:0866893 rabson-mendenhall syndrome GARD:226 MONDO:equivalentTo Rabson-Mendenhall syndrome -MONDO:0866894 fanconi-bickel syndrome GARD:2268 MONDO:equivalentTo Fanconi-Bickel syndrome -MONDO:0866895 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome GARD:2276 MONDO:equivalentTo Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome -MONDO:0866896 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome GARD:2279 MONDO:equivalentTo Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome -MONDO:0866897 gollop-wolfgang complex GARD:2285 MONDO:equivalentTo Gollop-Wolfgang complex -MONDO:0866898 femur-fibula-ulna complex GARD:2286 MONDO:equivalentTo Femur-fibula-ulna complex -MONDO:0866899 ataxia-photosensitivity-short stature syndrome GARD:2287 MONDO:equivalentTo Ataxia-photosensitivity-short stature syndrome -MONDO:0866900 gómez-lópez-hernández syndrome GARD:229 MONDO:equivalentTo Gómez-López-Hernández syndrome -MONDO:0866901 aminopterin/methotrexate embryofetopathy GARD:2294 MONDO:equivalentTo Aminopterin/methotrexate embryofetopathy -MONDO:0866902 fetal and neonatal alloimmune thrombocytopenia GARD:2295 MONDO:equivalentTo Fetal and neonatal alloimmune thrombocytopenia -MONDO:0866903 blepharophimosis-ptosis-epicanthus inversus syndrome GARD:23 MONDO:equivalentTo Blepharophimosis-ptosis-epicanthus inversus syndrome -MONDO:0866904 microcephaly-deafness-intellectual disability syndrome GARD:230 MONDO:equivalentTo Microcephaly-deafness-intellectual disability syndrome -MONDO:0866905 indomethacin embryofetopathy GARD:2303 MONDO:equivalentTo Indomethacin embryofetopathy -MONDO:0866906 fetal iodine syndrome GARD:2304 MONDO:equivalentTo Fetal iodine syndrome -MONDO:0866907 congenital left ventricular aneurysm GARD:2305 MONDO:equivalentTo Congenital left ventricular aneurysm -MONDO:0866908 fetal minoxidil syndrome GARD:2308 MONDO:equivalentTo Fetal minoxidil syndrome -MONDO:0866909 cach syndrome GARD:231 MONDO:equivalentTo CACH syndrome -MONDO:0866910 thalidomide embryopathy GARD:2313 MONDO:equivalentTo Thalidomide embryopathy -MONDO:0866911 fg syndrome type 1 GARD:2317 MONDO:equivalentTo FG syndrome type 1 -MONDO:0866912 medullary sponge kidney GARD:232 MONDO:equivalentTo Medullary sponge kidney -MONDO:0866913 congenital fibrinogen deficiency GARD:2320 MONDO:equivalentTo Congenital fibrinogen deficiency -MONDO:0866914 fibrochondrogenesis GARD:2321 MONDO:equivalentTo Fibrochondrogenesis -MONDO:0866915 birt-hogg-dubé syndrome GARD:2322 MONDO:equivalentTo Birt-Hogg-Dubé syndrome -MONDO:0866916 gingival fibromatosis-hypertrichosis syndrome GARD:2324 MONDO:equivalentTo Gingival fibromatosis-hypertrichosis syndrome -MONDO:0866917 fibrosarcoma GARD:2327 MONDO:equivalentTo Fibrosarcoma -MONDO:0866918 fibular aplasia-ectrodactyly syndrome GARD:2331 MONDO:equivalentTo Fibular aplasia-ectrodactyly syndrome -MONDO:0866919 absence of fingerprints-congenital milia syndrome GARD:2336 MONDO:equivalentTo Absence of fingerprints-congenital milia syndrome -MONDO:0866920 agel amyloidosis GARD:2339 MONDO:equivalentTo AGel amyloidosis -MONDO:0866921 d-glyceric aciduria GARD:234 MONDO:equivalentTo D-glyceric aciduria -MONDO:0866922 spastic paraplegia-nephritis-deafness syndrome GARD:2342 MONDO:equivalentTo Spastic paraplegia-nephritis-deafness syndrome -MONDO:0866923 paraplegia-intellectual disability-hyperkeratosis syndrome GARD:2344 MONDO:equivalentTo Paraplegia-intellectual disability-hyperkeratosis syndrome -MONDO:0866924 flotch syndrome GARD:2346 MONDO:equivalentTo FLOTCH syndrome -MONDO:0866925 flynn-aird syndrome GARD:2347 MONDO:equivalentTo Flynn-Aird syndrome -MONDO:0866926 foix-chavany-marie syndrome GARD:2351 MONDO:equivalentTo Foix-Chavany-Marie syndrome -MONDO:0866927 follicular lymphoma GARD:2356 MONDO:equivalentTo Follicular lymphoma -MONDO:0866928 hydrocephalus-blue sclerae-nephropathy syndrome GARD:236 MONDO:equivalentTo Hydrocephalus-blue sclerae-nephropathy syndrome -MONDO:0866929 cardiospondylocarpofacial syndrome GARD:2362 MONDO:equivalentTo Cardiospondylocarpofacial syndrome -MONDO:0866930 fowler urethral sphincter dysfunction syndrome GARD:2365 MONDO:equivalentTo Fowler urethral sphincter dysfunction syndrome -MONDO:0866931 dahlberg-borer-newcomer syndrome GARD:237 MONDO:equivalentTo Dahlberg-Borer-Newcomer syndrome -MONDO:0866932 frasier syndrome GARD:2375 MONDO:equivalentTo Frasier syndrome -MONDO:0866933 fraxe intellectual disability GARD:2378 MONDO:equivalentTo FRAXE intellectual disability -MONDO:0866934 odontomatosis-aortae esophagus stenosis syndrome GARD:238 MONDO:equivalentTo Odontomatosis-aortae esophagus stenosis syndrome -MONDO:0866935 osteochondrosis of the metatarsal bone GARD:2380 MONDO:equivalentTo Osteochondrosis of the metatarsal bone -MONDO:0866936 odontotrichomelic syndrome GARD:2381 MONDO:equivalentTo Odontotrichomelic syndrome -MONDO:0866937 14q22q23 microdeletion syndrome GARD:2384 MONDO:equivalentTo 14q22q23 microdeletion syndrome -MONDO:0866938 say-barber-miller syndrome GARD:239 MONDO:equivalentTo Say-Barber-Miller syndrome -MONDO:0866939 frontofacionasal dysplasia GARD:2390 MONDO:equivalentTo Frontofacionasal dysplasia -MONDO:0866940 frontonasal dysplasia GARD:2392 MONDO:equivalentTo Frontonasal dysplasia -MONDO:0866941 diaphragmatic defect-limb deficiency-skull defect syndrome GARD:2397 MONDO:equivalentTo Diaphragmatic defect-limb deficiency-skull defect syndrome -MONDO:0866942 fructose-1,6-bisphosphatase deficiency GARD:2400 MONDO:equivalentTo Fructose-1,6-bisphosphatase deficiency -MONDO:0866943 upper limb mesomelic dysplasia GARD:2408 MONDO:equivalentTo Upper limb mesomelic dysplasia -MONDO:0866944 fryns-smeets-thiry syndrome GARD:2409 MONDO:equivalentTo Fryns-Smeets-Thiry syndrome -MONDO:0866945 scalp defects-postaxial polydactyly syndrome GARD:241 MONDO:equivalentTo Scalp defects-postaxial polydactyly syndrome -MONDO:0866946 fuhrmann syndrome GARD:2410 MONDO:equivalentTo Fuhrmann syndrome -MONDO:0866947 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome GARD:2417 MONDO:equivalentTo Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome -MONDO:0866948 furuncular myiasis GARD:2418 MONDO:equivalentTo Furuncular myiasis -MONDO:0866949 fused mandibular incisors GARD:2419 MONDO:equivalentTo Fused mandibular incisors -MONDO:0866950 galactokinase deficiency GARD:2422 MONDO:equivalentTo Galactokinase deficiency -MONDO:0866951 galactosemia GARD:2424 MONDO:equivalentTo Galactosemia -MONDO:0866952 growth delay-hydrocephaly-lung hypoplasia syndrome GARD:2427 MONDO:equivalentTo Growth delay-hydrocephaly-lung hypoplasia syndrome -MONDO:0866953 cystathioninuria GARD:2428 MONDO:equivalentTo Cystathioninuria -MONDO:0866954 gamma-sarcoglycan-related limb-girdle muscular dystrophy r5 GARD:2429 MONDO:equivalentTo Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 -MONDO:0866955 trigonocephaly-short stature-developmental delay syndrome GARD:243 MONDO:equivalentTo Trigonocephaly-short stature-developmental delay syndrome -MONDO:0866956 ganglioglioma GARD:2430 MONDO:equivalentTo Ganglioglioma -MONDO:0866957 gm1 gangliosidosis type 3 GARD:2431 MONDO:equivalentTo GM1 gangliosidosis type 3 -MONDO:0866958 x-linked alport syndrome-diffuse leiomyomatosis GARD:2432 MONDO:equivalentTo X-linked Alport syndrome-diffuse leiomyomatosis -MONDO:0866959 ménétrier disease GARD:2436 MONDO:equivalentTo Ménétrier disease -MONDO:0866960 gastroenteropancreatic neuroendocrine neoplasm GARD:2437 MONDO:equivalentTo Gastroenteropancreatic neuroendocrine neoplasm -MONDO:0866961 gastrocutaneous syndrome GARD:2438 MONDO:equivalentTo Gastrocutaneous syndrome -MONDO:0866962 gaucher disease type 1 GARD:2441 MONDO:equivalentTo Gaucher disease type 1 -MONDO:0866963 gaucher disease type 2 GARD:2442 MONDO:equivalentTo Gaucher disease type 2 -MONDO:0866964 gaucher disease type 3 GARD:2443 MONDO:equivalentTo Gaucher disease type 3 -MONDO:0866965 geleophysic dysplasia GARD:2449 MONDO:equivalentTo Geleophysic dysplasia -MONDO:0866966 gemignani syndrome GARD:2451 MONDO:equivalentTo Gemignani syndrome -MONDO:0866967 glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome GARD:2452 MONDO:equivalentTo Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome -MONDO:0866968 holoprosencephaly-craniosynostosis syndrome GARD:2454 MONDO:equivalentTo Holoprosencephaly-craniosynostosis syndrome -MONDO:0866969 schisis association GARD:246 MONDO:equivalentTo Schisis association -MONDO:0866970 genitopalatocardiac syndrome GARD:2460 MONDO:equivalentTo Genitopalatocardiac syndrome -MONDO:0866971 german syndrome GARD:2462 MONDO:equivalentTo German syndrome -MONDO:0866972 large congenital melanocytic nevus GARD:2469 MONDO:equivalentTo Large congenital melanocytic nevus -MONDO:0866973 scarf syndrome GARD:247 MONDO:equivalentTo SCARF syndrome -MONDO:0866974 bernard-soulier syndrome GARD:2470 MONDO:equivalentTo Bernard-Soulier syndrome -MONDO:0866975 glanzmann thrombasthenia GARD:2478 MONDO:equivalentTo Glanzmann thrombasthenia -MONDO:0866976 cataract-deafness-hypogonadism syndrome GARD:248 MONDO:equivalentTo Cataract-deafness-hypogonadism syndrome -MONDO:0866977 glaucoma-sleep apnea syndrome GARD:2483 MONDO:equivalentTo Glaucoma-sleep apnea syndrome -MONDO:0866978 congenital glaucoma GARD:2485 MONDO:equivalentTo Congenital glaucoma -MONDO:0866979 pediatric-onset glaucoma of genetic origin GARD:2486 MONDO:equivalentTo Pediatric-onset glaucoma of genetic origin -MONDO:0866980 glioblastoma GARD:2491 MONDO:equivalentTo Glioblastoma -MONDO:0866981 glucagonoma GARD:2496 MONDO:equivalentTo Glucagonoma -MONDO:0866982 familial glucocorticoid deficiency GARD:2498 MONDO:equivalentTo Familial glucocorticoid deficiency -MONDO:0866983 generalized glucocorticoid resistance syndrome GARD:2499 MONDO:equivalentTo Generalized glucocorticoid resistance syndrome -MONDO:0866984 schwartz-jampel syndrome GARD:250 MONDO:equivalentTo Schwartz-Jampel syndrome -MONDO:0866985 glycogen storage disease due to hepatic glycogen synthase deficiency GARD:2513 MONDO:equivalentTo Glycogen storage disease due to hepatic glycogen synthase deficiency -MONDO:0866986 glycogen storage disease due to glucose-6-phosphatase deficiency type ib GARD:2515 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib -MONDO:0866987 glycogen storage disease due to glycogen branching enzyme deficiency GARD:2520 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency -MONDO:0866988 sandhoff disease GARD:2521 MONDO:equivalentTo Sandhoff disease -MONDO:0866989 gms syndrome GARD:2523 MONDO:equivalentTo GMS syndrome -MONDO:0866990 xy type gonadal dysgenesis-associated anomalies syndrome GARD:2541 MONDO:equivalentTo XY type gonadal dysgenesis-associated anomalies syndrome -MONDO:0866991 perrault syndrome GARD:2542 MONDO:equivalentTo Perrault syndrome -MONDO:0866992 gonococcal conjunctivitis GARD:2546 MONDO:equivalentTo Gonococcal conjunctivitis -MONDO:0866993 goodman syndrome GARD:2549 MONDO:equivalentTo Goodman syndrome -MONDO:0866994 anti-glomerular basement membrane disease GARD:2551 MONDO:equivalentTo Anti-glomerular basement membrane disease -MONDO:0866995 gordon syndrome GARD:2553 MONDO:equivalentTo Gordon syndrome -MONDO:0866996 cystic hamartoma of lung and kidney GARD:2557 MONDO:equivalentTo Cystic hamartoma of lung and kidney -MONDO:0866997 grant syndrome GARD:2559 MONDO:equivalentTo Grant syndrome -MONDO:0866998 gray platelet syndrome GARD:2562 MONDO:equivalentTo Gray platelet syndrome -MONDO:0866999 griscelli syndrome type 1 GARD:2566 MONDO:equivalentTo Griscelli syndrome type 1 -MONDO:0867000 deafness-small bowel diverticulosis-neuropathy syndrome GARD:2568 MONDO:equivalentTo Deafness-small bowel diverticulosis-neuropathy syndrome -MONDO:0867001 intellectual disability-balding-patella luxation-acromicria syndrome GARD:257 MONDO:equivalentTo Intellectual disability-balding-patella luxation-acromicria syndrome -MONDO:0867002 myhre syndrome GARD:2572 MONDO:equivalentTo Myhre syndrome -MONDO:0867003 grubben-de cock-borghgraef syndrome GARD:2576 MONDO:equivalentTo Grubben-de Cock-Borghgraef syndrome -MONDO:0867004 guanidinoacetate methyltransferase deficiency GARD:2578 MONDO:equivalentTo Guanidinoacetate methyltransferase deficiency -MONDO:0867005 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome GARD:258 MONDO:equivalentTo Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome -MONDO:0867006 x-linked corneal dermoid GARD:2580 MONDO:equivalentTo X-linked corneal dermoid -MONDO:0867007 hall-riggs syndrome GARD:2586 MONDO:equivalentTo Hall-Riggs syndrome -MONDO:0867008 digital extensor muscle aplasia-polyneuropathy GARD:2589 MONDO:equivalentTo Digital extensor muscle aplasia-polyneuropathy -MONDO:0867009 nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome GARD:259 MONDO:equivalentTo Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome -MONDO:0867010 emery-nelson syndrome GARD:2593 MONDO:equivalentTo Emery-Nelson syndrome -MONDO:0867011 hand-foot-genital syndrome GARD:2594 MONDO:equivalentTo Hand-foot-genital syndrome -MONDO:0867012 extensor tendons of finger anomalies GARD:2597 MONDO:equivalentTo Extensor tendons of finger anomalies -MONDO:0867013 parana hard skin syndrome GARD:2598 MONDO:equivalentTo Parana hard skin syndrome -MONDO:0867014 walker-warburg syndrome GARD:2599 MONDO:equivalentTo Walker-Warburg syndrome -MONDO:0867015 cat-eye syndrome GARD:26 MONDO:equivalentTo Cat-eye syndrome -MONDO:0867016 early-onset cerebellar ataxia with retained tendon reflexes GARD:2600 MONDO:equivalentTo Early-onset cerebellar ataxia with retained tendon reflexes -MONDO:0867017 harrod syndrome GARD:2601 MONDO:equivalentTo Harrod syndrome -MONDO:0867018 short stature-craniofacial anomalies-genital hypoplasia syndrome GARD:2605 MONDO:equivalentTo Short stature-craniofacial anomalies-genital hypoplasia syndrome -MONDO:0867019 heart defects-limb shortening syndrome GARD:2613 MONDO:equivalentTo Heart defects-limb shortening syndrome -MONDO:0867020 heart-hand syndrome type 3 GARD:2614 MONDO:equivalentTo Heart-hand syndrome type 3 -MONDO:0867021 narp syndrome GARD:262 MONDO:equivalentTo NARP syndrome -MONDO:0867022 hec syndrome GARD:2620 MONDO:equivalentTo HEC syndrome -MONDO:0867023 trismus-pseudocamptodactyly syndrome GARD:2621 MONDO:equivalentTo Trismus-pseudocamptodactyly syndrome -MONDO:0867024 fatco syndrome GARD:2622 MONDO:equivalentTo FATCO syndrome -MONDO:0867025 isolated hemihyperplasia GARD:2630 MONDO:equivalentTo Isolated hemihyperplasia -MONDO:0867026 bencze syndrome GARD:2633 MONDO:equivalentTo Bencze syndrome -MONDO:0867027 hemimegalencephaly GARD:2637 MONDO:equivalentTo Hemimegalencephaly -MONDO:0867028 lowry-wood syndrome GARD:264 MONDO:equivalentTo Lowry-Wood syndrome -MONDO:0867029 hemoglobin c disease GARD:2640 MONDO:equivalentTo Hemoglobin C disease -MONDO:0867030 hemoglobin e disease GARD:2641 MONDO:equivalentTo Hemoglobin E disease -MONDO:0867031 lethal hemolytic anemia-genital anomalies syndrome GARD:2642 MONDO:equivalentTo Lethal hemolytic anemia-genital anomalies syndrome -MONDO:0867032 trichodental syndrome GARD:265 MONDO:equivalentTo Trichodental syndrome -MONDO:0867033 heparin-induced thrombocytopenia GARD:2650 MONDO:equivalentTo Heparin-induced thrombocytopenia -MONDO:0867034 hepatic cystic hamartoma GARD:2651 MONDO:equivalentTo Hepatic cystic hamartoma -MONDO:0867035 hepatoblastoma GARD:2657 MONDO:equivalentTo Hepatoblastoma -MONDO:0867036 tyrosinemia type 1 GARD:2658 MONDO:equivalentTo Tyrosinemia type 1 -MONDO:0867037 hereditary methemoglobinemia GARD:2659 MONDO:equivalentTo Hereditary methemoglobinemia -MONDO:0867038 keipert syndrome GARD:267 MONDO:equivalentTo Keipert syndrome -MONDO:0867039 hidrotic ectodermal dysplasia, christianson-fourie type GARD:2682 MONDO:equivalentTo Hidrotic ectodermal dysplasia, Christianson-Fourie type -MONDO:0867040 congenital high-molecular-weight kininogen deficiency GARD:2684 MONDO:equivalentTo Congenital high-molecular-weight kininogen deficiency -MONDO:0867041 ivic syndrome GARD:269 MONDO:equivalentTo IVIC syndrome -MONDO:0867042 hip dysplasia, beukes type GARD:2690 MONDO:equivalentTo Hip dysplasia, Beukes type -MONDO:0867043 hirschsprung disease-ganglioneuroblastoma syndrome GARD:2695 MONDO:equivalentTo Hirschsprung disease-ganglioneuroblastoma syndrome -MONDO:0867044 cat-scratch disease GARD:27 MONDO:equivalentTo Cat-scratch disease -MONDO:0867045 nicolaides-baraitser syndrome GARD:270 MONDO:equivalentTo Nicolaides-Baraitser syndrome -MONDO:0867046 hirschsprung disease-type d brachydactyly syndrome GARD:2700 MONDO:equivalentTo Hirschsprung disease-type D brachydactyly syndrome -MONDO:0867047 his bundle tachycardia GARD:2706 MONDO:equivalentTo His bundle tachycardia -MONDO:0867048 histidinuria-renal tubular defect syndrome GARD:2708 MONDO:equivalentTo Histidinuria-renal tubular defect syndrome -MONDO:0867049 3-hydroxy-3-methylglutaryl-coa synthase deficiency GARD:2712 MONDO:equivalentTo 3-hydroxy-3-methylglutaryl-CoA synthase deficiency -MONDO:0867050 hodgkin lymphoma GARD:2714 MONDO:equivalentTo Hodgkin lymphoma -MONDO:0867051 vacterl with hydrocephalus GARD:272 MONDO:equivalentTo VACTERL with hydrocephalus -MONDO:0867052 holocarboxylase synthetase deficiency GARD:2721 MONDO:equivalentTo Holocarboxylase synthetase deficiency -MONDO:0867053 holoprosencephaly-caudal dysgenesis syndrome GARD:2722 MONDO:equivalentTo Holoprosencephaly-caudal dysgenesis syndrome -MONDO:0867054 hartsfield syndrome GARD:2725 MONDO:equivalentTo Hartsfield syndrome -MONDO:0867055 holoprosencephaly-radial heart renal anomalies syndrome GARD:2727 MONDO:equivalentTo Holoprosencephaly-radial heart renal anomalies syndrome -MONDO:0867056 holzgreve syndrome GARD:2728 MONDO:equivalentTo Holzgreve syndrome -MONDO:0867057 wrinkly skin syndrome GARD:273 MONDO:equivalentTo Wrinkly skin syndrome -MONDO:0867058 homocystinuria due to methylene tetrahydrofolate reductase deficiency GARD:2734 MONDO:equivalentTo Homocystinuria due to methylene tetrahydrofolate reductase deficiency -MONDO:0867059 x-linked immunoneurologic disorder GARD:274 MONDO:equivalentTo X-linked immunoneurologic disorder -MONDO:0867060 atrioventricular defect-blepharophimosis-radial and anal defect syndrome GARD:2742 MONDO:equivalentTo Atrioventricular defect-blepharophimosis-radial and anal defect syndrome -MONDO:0867061 humero-radial synostosis GARD:2748 MONDO:equivalentTo Humero-radial synostosis -MONDO:0867062 humero-radio-ulnar synostosis GARD:2749 MONDO:equivalentTo Humero-radio-ulnar synostosis -MONDO:0867063 humerus trochlea aplasia GARD:2750 MONDO:equivalentTo Humerus trochlea aplasia -MONDO:0867064 hunter-mcalpine syndrome GARD:2754 MONDO:equivalentTo Hunter-McAlpine syndrome -MONDO:0867065 trigonocephaly-broad thumbs syndrome GARD:2756 MONDO:equivalentTo Trigonocephaly-broad thumbs syndrome -MONDO:0867066 cystic echinococcosis GARD:2764 MONDO:equivalentTo Cystic echinococcosis -MONDO:0867067 x-linked intellectual disability-plagiocephaly syndrome GARD:2765 MONDO:equivalentTo X-linked intellectual disability-plagiocephaly syndrome -MONDO:0867068 pilodental dysplasia-refractive errors syndrome GARD:277 MONDO:equivalentTo Pilodental dysplasia-refractive errors syndrome -MONDO:0867069 hydrocephalus-obesity-hypogonadism syndrome GARD:2775 MONDO:equivalentTo Hydrocephalus-obesity-hypogonadism syndrome -MONDO:0867070 hydrops fetalis GARD:2783 MONDO:equivalentTo Hydrops fetalis -MONDO:0867071 hymenolepiasis GARD:2787 MONDO:equivalentTo Hymenolepiasis -MONDO:0867072 hyperimmunoglobulinemia d with periodic fever GARD:2788 MONDO:equivalentTo Hyperimmunoglobulinemia D with periodic fever -MONDO:0867073 familial hyperaldosteronism type ii GARD:2789 MONDO:equivalentTo Familial hyperaldosteronism type II -MONDO:0867074 familial hyperaldosteronism type i GARD:2790 MONDO:equivalentTo Familial hyperaldosteronism type I -MONDO:0867075 transient familial neonatal hyperbilirubinemia GARD:2791 MONDO:equivalentTo Transient familial neonatal hyperbilirubinemia -MONDO:0867076 dubin-johnson syndrome GARD:2793 MONDO:equivalentTo Dubin-Johnson syndrome -MONDO:0867077 familial hypocalciuric hypercalcemia type 1 GARD:2796 MONDO:equivalentTo Familial hypocalciuric hypercalcemia type 1 -MONDO:0867078 catel-manzke syndrome GARD:28 MONDO:equivalentTo Catel-Manzke syndrome -MONDO:0867079 hidrotic ectodermal dysplasia, halal type GARD:280 MONDO:equivalentTo Hidrotic ectodermal dysplasia, Halal type -MONDO:0867080 hypereosinophilic syndrome GARD:2804 MONDO:equivalentTo Hypereosinophilic syndrome -MONDO:0867081 hereditary hyperferritinemia-cataract syndrome GARD:2806 MONDO:equivalentTo Hereditary hyperferritinemia-cataract syndrome -MONDO:0867082 isolated glycerol kinase deficiency GARD:2807 MONDO:equivalentTo Isolated glycerol kinase deficiency -MONDO:0867083 combined immunodeficiency due to dock8 deficiency GARD:2816 MONDO:equivalentTo Combined immunodeficiency due to DOCK8 deficiency -MONDO:0867084 hyperinsulinism due to glucokinase deficiency GARD:2818 MONDO:equivalentTo Hyperinsulinism due to glucokinase deficiency -MONDO:0867085 lethal osteosclerotic bone dysplasia GARD:282 MONDO:equivalentTo Lethal osteosclerotic bone dysplasia -MONDO:0867086 hyperkeratosis lenticularis perstans GARD:2824 MONDO:equivalentTo Hyperkeratosis lenticularis perstans -MONDO:0867087 epidermolytic palmoplantar keratoderma GARD:2826 MONDO:equivalentTo Epidermolytic palmoplantar keratoderma -MONDO:0867088 hyperlysinemia GARD:2828 MONDO:equivalentTo Hyperlysinemia -MONDO:0867089 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome GARD:2830 MONDO:equivalentTo Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome -MONDO:0867090 juvenile paget disease GARD:2831 MONDO:equivalentTo Juvenile Paget disease -MONDO:0867091 hyperostosis corticalis generalisata GARD:2833 MONDO:equivalentTo Hyperostosis corticalis generalisata -MONDO:0867092 primary hyperoxaluria type 1 GARD:2835 MONDO:equivalentTo Primary hyperoxaluria type 1 -MONDO:0867093 primary hyperoxaluria type 2 GARD:2836 MONDO:equivalentTo Primary hyperoxaluria type 2 -MONDO:0867094 familial primary hyperparathyroidism GARD:2837 MONDO:equivalentTo Familial primary hyperparathyroidism -MONDO:0867095 neonatal severe primary hyperparathyroidism GARD:2838 MONDO:equivalentTo Neonatal severe primary hyperparathyroidism -MONDO:0867096 lymphedema-atrial septal defects-facial changes syndrome GARD:284 MONDO:equivalentTo Lymphedema-atrial septal defects-facial changes syndrome -MONDO:0867097 pterin-4 alpha-carbinolamine dehydratase deficiency GARD:2843 MONDO:equivalentTo Pterin-4 alpha-carbinolamine dehydratase deficiency -MONDO:0867098 gtp cyclohydrolase i deficiency GARD:2844 MONDO:equivalentTo GTP cyclohydrolase I deficiency -MONDO:0867099 hyperprolinemia type 1 GARD:2847 MONDO:equivalentTo Hyperprolinemia type 1 -MONDO:0867100 maternal hyperthermia-induced birth defects GARD:2856 MONDO:equivalentTo Maternal hyperthermia-induced birth defects -MONDO:0867101 familial hyperthyroidism due to mutations in tsh receptor GARD:2858 MONDO:equivalentTo Familial hyperthyroidism due to mutations in TSH receptor -MONDO:0867102 x-linked congenital generalized hypertrichosis GARD:2863 MONDO:equivalentTo X-linked congenital generalized hypertrichosis -MONDO:0867103 acquired hypertrichosis lanuginosa GARD:2864 MONDO:equivalentTo Acquired hypertrichosis lanuginosa -MONDO:0867104 hypertrichosis lanuginosa congenita GARD:2865 MONDO:equivalentTo Hypertrichosis lanuginosa congenita -MONDO:0867105 hypertelorism-hypospadias-polysyndactyly syndrome GARD:287 MONDO:equivalentTo Hypertelorism-hypospadias-polysyndactyly syndrome -MONDO:0867106 hypertryptophanemia GARD:2871 MONDO:equivalentTo Hypertryptophanemia -MONDO:0867107 apolipoprotein a-i deficiency GARD:2872 MONDO:equivalentTo Apolipoprotein A-I deficiency -MONDO:0867108 autosomal dominant hypocalcemia GARD:2877 MONDO:equivalentTo Autosomal dominant hypocalcemia -MONDO:0867109 familial hypocalciuric hypercalcemia type 3 GARD:2878 MONDO:equivalentTo Familial hypocalciuric hypercalcemia type 3 -MONDO:0867110 hallermann-streiff syndrome GARD:288 MONDO:equivalentTo Hallermann-Streiff syndrome -MONDO:0867111 achondrogenesis GARD:2882 MONDO:equivalentTo Achondrogenesis -MONDO:0867112 familial hypofibrinogenemia GARD:2887 MONDO:equivalentTo Familial hypofibrinogenemia -MONDO:0867113 charge syndrome GARD:29 MONDO:equivalentTo CHARGE syndrome -MONDO:0867114 hallermann-streiff-like syndrome GARD:290 MONDO:equivalentTo Hallermann-Streiff-like syndrome -MONDO:0867115 familial isolated dilated cardiomyopathy GARD:2905 MONDO:equivalentTo Familial isolated dilated cardiomyopathy -MONDO:0867116 primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement GARD:2906 MONDO:equivalentTo Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement -MONDO:0867117 hypomandibular faciocranial dysostosis GARD:2907 MONDO:equivalentTo Hypomandibular faciocranial dysostosis -MONDO:0867118 müllerian duct anomalies-limb anomalies syndrome GARD:2908 MONDO:equivalentTo Müllerian duct anomalies-limb anomalies syndrome -MONDO:0867119 familial isolated hypoparathyroidism GARD:2910 MONDO:equivalentTo Familial isolated hypoparathyroidism -MONDO:0867120 hypoparathyroidism-sensorineural deafness-renal disease syndrome GARD:2911 MONDO:equivalentTo Hypoparathyroidism-sensorineural deafness-renal disease syndrome -MONDO:0867121 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome GARD:292 MONDO:equivalentTo Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome -MONDO:0867122 hypoplastic right heart syndrome GARD:2922 MONDO:equivalentTo Hypoplastic right heart syndrome -MONDO:0867123 congenital factor ii deficiency GARD:2926 MONDO:equivalentTo Congenital factor II deficiency -MONDO:0867124 hypospadias-intellectual disability, goldblatt type syndrome GARD:2928 MONDO:equivalentTo Hypospadias-intellectual disability, Goldblatt type syndrome -MONDO:0867125 schilbach-rott syndrome GARD:2930 MONDO:equivalentTo Schilbach-Rott syndrome -MONDO:0867126 hypoxanthine-guanine phosphoribosyltransferase deficiency GARD:2943 MONDO:equivalentTo Hypoxanthine-guanine phosphoribosyltransferase deficiency -MONDO:0867127 icf syndrome GARD:2945 MONDO:equivalentTo ICF syndrome -MONDO:0867128 ichthyosis follicularis-alopecia-photophobia syndrome GARD:2952 MONDO:equivalentTo Ichthyosis follicularis-alopecia-photophobia syndrome -MONDO:0867129 ichthyosis hystrix of curth-macklin GARD:2954 MONDO:equivalentTo Ichthyosis hystrix of Curth-Macklin -MONDO:0867130 short tarsus-absence of lower eyelashes syndrome GARD:296 MONDO:equivalentTo Short tarsus-absence of lower eyelashes syndrome -MONDO:0867131 ichthyosis-oral and digital anomalies syndrome GARD:2960 MONDO:equivalentTo Ichthyosis-oral and digital anomalies syndrome -MONDO:0867132 superficial epidermolytic ichthyosis GARD:2966 MONDO:equivalentTo Superficial epidermolytic ichthyosis -MONDO:0867133 hypergonadotropic hypogonadism-cataract syndrome GARD:298 MONDO:equivalentTo Hypergonadotropic hypogonadism-cataract syndrome -MONDO:0867134 short-limb skeletal dysplasia with severe combined immunodeficiency GARD:2988 MONDO:equivalentTo Short-limb skeletal dysplasia with severe combined immunodeficiency -MONDO:0867135 imperforate oropharynx-costovertebral anomalies syndrome GARD:2989 MONDO:equivalentTo Imperforate oropharynx-costovertebral anomalies syndrome -MONDO:0867136 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome GARD:299 MONDO:equivalentTo Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome -MONDO:0867137 early-onset progressive encephalopathy with migrant continuous myoclonus GARD:2995 MONDO:equivalentTo Early-onset progressive encephalopathy with migrant continuous myoclonus -MONDO:0867138 infantile myofibromatosis GARD:2998 MONDO:equivalentTo Infantile myofibromatosis -MONDO:0867139 ablepharon macrostomia syndrome GARD:3 MONDO:equivalentTo Ablepharon macrostomia syndrome -MONDO:0867140 rare to-be-classified gard diseases GARD:30000 MONDO:equivalentTo Rare to-be-classified GARD Diseases -MONDO:0867141 infantile spasms-broad thumbs syndrome GARD:3002 MONDO:equivalentTo Infantile spasms-broad thumbs syndrome -MONDO:0867142 hereditary sensory and autonomic neuropathy type 4 GARD:3006 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 4 -MONDO:0867143 mosaic variegated aneuploidy syndrome GARD:3007 MONDO:equivalentTo Mosaic variegated aneuploidy syndrome -MONDO:0867144 insulin-resistance syndrome type a GARD:3008 MONDO:equivalentTo Insulin-resistance syndrome type A -MONDO:0867145 insulin-resistance syndrome type b GARD:3009 MONDO:equivalentTo Insulin-resistance syndrome type B -MONDO:0867146 insulinoma GARD:3010 MONDO:equivalentTo Insulinoma -MONDO:0867147 internal carotid absence GARD:3012 MONDO:equivalentTo Internal carotid absence -MONDO:0867148 multiple intestinal atresia GARD:3013 MONDO:equivalentTo Multiple intestinal atresia -MONDO:0867149 kostmann syndrome GARD:302 MONDO:equivalentTo Kostmann syndrome -MONDO:0867150 cerebral arteriovenous malformation GARD:3020 MONDO:equivalentTo Cerebral arteriovenous malformation -MONDO:0867151 congenital intrinsic factor deficiency GARD:3024 MONDO:equivalentTo Congenital intrinsic factor deficiency -MONDO:0867152 coxopodopatellar syndrome GARD:3030 MONDO:equivalentTo Coxopodopatellar syndrome -MONDO:0867153 isosporiasis GARD:3033 MONDO:equivalentTo Isosporiasis -MONDO:0867154 blau syndrome GARD:304 MONDO:equivalentTo Blau syndrome -MONDO:0867155 cln2 disease GARD:3045 MONDO:equivalentTo CLN2 disease -MONDO:0867156 spondylometaphyseal dysplasia, kozlowski type GARD:3047 MONDO:equivalentTo Spondylometaphyseal dysplasia, Kozlowski type -MONDO:0867157 jervell and lange-nielsen syndrome GARD:3048 MONDO:equivalentTo Jervell and Lange-Nielsen syndrome -MONDO:0867158 jeune syndrome GARD:3049 MONDO:equivalentTo Jeune syndrome -MONDO:0867159 conductive deafness-ptosis-skeletal anomalies syndrome GARD:305 MONDO:equivalentTo Conductive deafness-ptosis-skeletal anomalies syndrome -MONDO:0867160 aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome GARD:3051 MONDO:equivalentTo Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome -MONDO:0867161 arthrogryposis-hyperkeratosis syndrome, lethal form GARD:3053 MONDO:equivalentTo Arthrogryposis-hyperkeratosis syndrome, lethal form -MONDO:0867162 familial articular hypermobility syndrome GARD:3054 MONDO:equivalentTo Familial articular hypermobility syndrome -MONDO:0867163 gingival fibromatosis-progressive deafness syndrome GARD:3056 MONDO:equivalentTo Gingival fibromatosis-progressive deafness syndrome -MONDO:0867164 camptodactyly-arthropathy-coxa-vara-pericarditis syndrome GARD:306 MONDO:equivalentTo Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome -MONDO:0867165 juberg-hayward syndrome GARD:3060 MONDO:equivalentTo Juberg-Hayward syndrome -MONDO:0867166 jung syndrome GARD:3062 MONDO:equivalentTo Jung syndrome -MONDO:0867167 juvenile polyposis syndrome GARD:3065 MONDO:equivalentTo Juvenile polyposis syndrome -MONDO:0867168 hypotrichosis with juvenile macular degeneration GARD:3066 MONDO:equivalentTo Hypotrichosis with juvenile macular degeneration -MONDO:0867169 juvenile temporal arteritis GARD:3068 MONDO:equivalentTo Juvenile temporal arteritis -MONDO:0867170 jacobsen syndrome GARD:307 MONDO:equivalentTo Jacobsen syndrome -MONDO:0867171 mesomelic dysplasia, kantaputra type GARD:3074 MONDO:equivalentTo Mesomelic dysplasia, Kantaputra type -MONDO:0867172 acrocraniofacial dysostosis GARD:3075 MONDO:equivalentTo Acrocraniofacial dysostosis -MONDO:0867173 kaposiform hemangioendothelioma GARD:3077 MONDO:equivalentTo Kaposiform hemangioendothelioma -MONDO:0867174 kapur-toriello syndrome GARD:3078 MONDO:equivalentTo Kapur-Toriello syndrome -MONDO:0867175 oculocerebrofacial syndrome, kaufman type GARD:3084 MONDO:equivalentTo Oculocerebrofacial syndrome, Kaufman type -MONDO:0867176 pagod syndrome GARD:3086 MONDO:equivalentTo PAGOD syndrome -MONDO:0867177 autosomal dominant keratitis GARD:3089 MONDO:equivalentTo Autosomal dominant keratitis -MONDO:0867178 multiple self-healing squamous epithelioma GARD:3090 MONDO:equivalentTo Multiple self-healing squamous epithelioma -MONDO:0867179 keratoderma hereditarium mutilans GARD:3092 MONDO:equivalentTo Keratoderma hereditarium mutilans -MONDO:0867180 palmoplantar keratoderma-deafness syndrome GARD:3094 MONDO:equivalentTo Palmoplantar keratoderma-deafness syndrome -MONDO:0867181 palmoplantar keratoderma-spastic paralysis syndrome GARD:3095 MONDO:equivalentTo Palmoplantar keratoderma-spastic paralysis syndrome -MONDO:0867182 transgrediens et progrediens palmoplantar keratoderma GARD:3096 MONDO:equivalentTo Transgrediens et progrediens palmoplantar keratoderma -MONDO:0867183 focal palmoplantar and gingival keratoderma GARD:3098 MONDO:equivalentTo Focal palmoplantar and gingival keratoderma -MONDO:0867184 keratosis follicularis-dwarfism-cerebral atrophy syndrome GARD:3099 MONDO:equivalentTo Keratosis follicularis-dwarfism-cerebral atrophy syndrome -MONDO:0867185 serpiginous choroiditis GARD:31 MONDO:equivalentTo Serpiginous choroiditis -MONDO:0867186 chime syndrome GARD:310 MONDO:equivalentTo CHIME syndrome -MONDO:0867187 papillon-lefèvre syndrome GARD:3100 MONDO:equivalentTo Papillon-Lefèvre syndrome -MONDO:0867188 palmoplantar keratoderma-esophageal carcinoma syndrome GARD:3102 MONDO:equivalentTo Palmoplantar keratoderma-esophageal carcinoma syndrome -MONDO:0867189 punctate palmoplantar keratoderma type 1 GARD:3103 MONDO:equivalentTo Punctate palmoplantar keratoderma type 1 -MONDO:0867190 tyrosinemia type 2 GARD:3105 MONDO:equivalentTo Tyrosinemia type 2 -MONDO:0867191 kerion celsi GARD:3109 MONDO:equivalentTo Kerion celsi -MONDO:0867192 anaplastic large cell lymphoma GARD:3112 MONDO:equivalentTo Anaplastic large cell lymphoma -MONDO:0867193 kid syndrome GARD:3113 MONDO:equivalentTo KID syndrome -MONDO:0867194 kleine-levin syndrome GARD:3117 MONDO:equivalentTo Kleine-Levin syndrome -MONDO:0867195 hallux varus-preaxial polysyndactyly syndrome GARD:3118 MONDO:equivalentTo Hallux varus-preaxial polysyndactyly syndrome -MONDO:0867196 robinow syndrome GARD:312 MONDO:equivalentTo Robinow syndrome -MONDO:0867197 angioosteohypertrophic syndrome GARD:3122 MONDO:equivalentTo Angioosteohypertrophic syndrome -MONDO:0867198 lethal kniest-like dysplasia GARD:3124 MONDO:equivalentTo Lethal Kniest-like dysplasia -MONDO:0867199 knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome GARD:3125 MONDO:equivalentTo Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome -MONDO:0867200 familial partial lipodystrophy, dunnigan type GARD:3126 MONDO:equivalentTo Familial partial lipodystrophy, Dunnigan type -MONDO:0867201 amelocerebrohypohidrotic syndrome GARD:3128 MONDO:equivalentTo Amelocerebrohypohidrotic syndrome -MONDO:0867202 hereditary hyperekplexia GARD:3129 MONDO:equivalentTo Hereditary hyperekplexia -MONDO:0867203 saccharopinuria GARD:314 MONDO:equivalentTo Saccharopinuria -MONDO:0867204 intellectual disability-polydactyly-uncombable hair syndrome GARD:3141 MONDO:equivalentTo Intellectual disability-polydactyly-uncombable hair syndrome -MONDO:0867205 kuskokwim syndrome GARD:3150 MONDO:equivalentTo Kuskokwim syndrome -MONDO:0867206 glycogen storage disease due to lactate dehydrogenase deficiency GARD:3159 MONDO:equivalentTo Glycogen storage disease due to lactate dehydrogenase deficiency -MONDO:0867207 glycogen storage disease due to lactate dehydrogenase m-subunit deficiency GARD:3160 MONDO:equivalentTo Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency -MONDO:0867208 glycogen storage disease due to lactate dehydrogenase h-subunit deficiency GARD:3161 MONDO:equivalentTo Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency -MONDO:0867209 fatal infantile lactic acidosis with methylmalonic aciduria GARD:3163 MONDO:equivalentTo Fatal infantile lactic acidosis with methylmalonic aciduria -MONDO:0867210 lambert syndrome GARD:3169 MONDO:equivalentTo Lambert syndrome -MONDO:0867211 diffuse large b-cell lymphoma GARD:3178 MONDO:equivalentTo Diffuse large B-cell lymphoma -MONDO:0867212 lethal larsen-like syndrome GARD:3181 MONDO:equivalentTo Lethal Larsen-like syndrome -MONDO:0867213 laryngotracheoesophageal cleft GARD:3188 MONDO:equivalentTo Laryngotracheoesophageal cleft -MONDO:0867214 sacrococcygeal teratoma GARD:319 MONDO:equivalentTo Sacrococcygeal teratoma -MONDO:0867215 laryngocele GARD:3191 MONDO:equivalentTo Laryngocele -MONDO:0867216 larynx atresia GARD:3194 MONDO:equivalentTo Larynx atresia -MONDO:0867217 graham little-piccardi-lassueur syndrome GARD:3195 MONDO:equivalentTo Graham Little-Piccardi-Lassueur syndrome -MONDO:0867218 fibulo-ulnar hypoplasia-renal anomalies syndrome GARD:320 MONDO:equivalentTo Fibulo-ulnar hypoplasia-renal anomalies syndrome -MONDO:0867219 early-onset parkinsonism-intellectual disability syndrome GARD:3203 MONDO:equivalentTo Early-onset parkinsonism-intellectual disability syndrome -MONDO:0867220 nail-patella-like renal disease GARD:321 MONDO:equivalentTo Nail-patella-like renal disease -MONDO:0867221 branchio-oculo-facial syndrome GARD:3212 MONDO:equivalentTo Branchio-oculo-facial syndrome -MONDO:0867222 senior-loken syndrome GARD:322 MONDO:equivalentTo Senior-Loken syndrome -MONDO:0867223 lenz-majewski hyperostotic dwarfism GARD:3223 MONDO:equivalentTo Lenz-Majewski hyperostotic dwarfism -MONDO:0867224 léri-weill dyschondrosteosis GARD:3224 MONDO:equivalentTo Léri-Weill dyschondrosteosis -MONDO:0867225 lethal congenital contracture syndrome type 1 GARD:3227 MONDO:equivalentTo Lethal congenital contracture syndrome type 1 -MONDO:0867226 maple syrup urine disease GARD:3228 MONDO:equivalentTo Maple syrup urine disease -MONDO:0867227 metachromatic leukodystrophy GARD:3230 MONDO:equivalentTo Metachromatic leukodystrophy -MONDO:0867228 ravine syndrome GARD:3231 MONDO:equivalentTo Ravine syndrome -MONDO:0867229 leukoencephalopathy-palmoplantar keratoderma syndrome GARD:3232 MONDO:equivalentTo Leukoencephalopathy-palmoplantar keratoderma syndrome -MONDO:0867230 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome GARD:3236 MONDO:equivalentTo Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome -MONDO:0867231 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome GARD:324 MONDO:equivalentTo Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome -MONDO:0867232 autosomal dominant popliteal pterygium syndrome GARD:3242 MONDO:equivalentTo Autosomal dominant popliteal pterygium syndrome -MONDO:0867233 leydig cell hypoplasia GARD:3244 MONDO:equivalentTo Leydig cell hypoplasia -MONDO:0867234 lichen planopilaris GARD:3247 MONDO:equivalentTo Lichen planopilaris -MONDO:0867235 lichtenstein syndrome GARD:3248 MONDO:equivalentTo Lichtenstein syndrome -MONDO:0867236 twin to twin transfusion syndrome GARD:325 MONDO:equivalentTo Twin to twin transfusion syndrome -MONDO:0867237 limb body wall complex GARD:3251 MONDO:equivalentTo Limb body wall complex -MONDO:0867238 distal limb deficiencies-micrognathia syndrome GARD:3252 MONDO:equivalentTo Distal limb deficiencies-micrognathia syndrome -MONDO:0867239 linear verrucous nevus syndrome GARD:3259 MONDO:equivalentTo Linear verrucous nevus syndrome -MONDO:0867240 neutral lipid storage disease GARD:3262 MONDO:equivalentTo Neutral lipid storage disease -MONDO:0867241 pyruvate dehydrogenase e3 deficiency GARD:3263 MONDO:equivalentTo Pyruvate dehydrogenase E3 deficiency -MONDO:0867242 lipoid proteinosis GARD:3268 MONDO:equivalentTo Lipoid proteinosis -MONDO:0867243 cobblestone lissencephaly GARD:3277 MONDO:equivalentTo Cobblestone lissencephaly -MONDO:0867244 loiasis GARD:3283 MONDO:equivalentTo Loiasis -MONDO:0867245 romano-ward syndrome GARD:3284 MONDO:equivalentTo Romano-Ward syndrome -MONDO:0867246 loose anagen syndrome GARD:3287 MONDO:equivalentTo Loose anagen syndrome -MONDO:0867247 wells syndrome GARD:329 MONDO:equivalentTo Wells syndrome -MONDO:0867248 oculocerebrorenal syndrome of lowe GARD:3295 MONDO:equivalentTo Oculocerebrorenal syndrome of Lowe -MONDO:0867249 wiedemann-rautenstrauch syndrome GARD:330 MONDO:equivalentTo Wiedemann-Rautenstrauch syndrome -MONDO:0867250 lowry-maclean syndrome GARD:3300 MONDO:equivalentTo Lowry-MacLean syndrome -MONDO:0867251 cystic fibrosis-gastritis-megaloblastic anemia syndrome GARD:3303 MONDO:equivalentTo Cystic fibrosis-gastritis-megaloblastic anemia syndrome -MONDO:0867252 lujan-fryns syndrome GARD:3307 MONDO:equivalentTo Lujan-Fryns syndrome -MONDO:0867253 yunis-varon syndrome GARD:331 MONDO:equivalentTo Yunis-Varon syndrome -MONDO:0867254 cerebellar ataxia-hypogonadism syndrome GARD:3314 MONDO:equivalentTo Cerebellar ataxia-hypogonadism syndrome -MONDO:0867255 hennekam syndrome GARD:3318 MONDO:equivalentTo Hennekam syndrome -MONDO:0867256 lymphangioleiomyomatosis GARD:3319 MONDO:equivalentTo Lymphangioleiomyomatosis -MONDO:0867257 cutis gyrata-acanthosis nigricans-craniosynostosis syndrome GARD:332 MONDO:equivalentTo Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome -MONDO:0867258 lymphatic filariasis GARD:3321 MONDO:equivalentTo Lymphatic filariasis -MONDO:0867259 meige disease GARD:3324 MONDO:equivalentTo Meige disease -MONDO:0867260 lymphedema-distichiasis syndrome GARD:333 MONDO:equivalentTo Lymphedema-distichiasis syndrome -MONDO:0867261 lysinuric protein intolerance GARD:3335 MONDO:equivalentTo Lysinuric protein intolerance -MONDO:0867262 dyschromatosis symmetrica hereditaria GARD:334 MONDO:equivalentTo Dyschromatosis symmetrica hereditaria -MONDO:0867263 macroglossia GARD:3342 MONDO:equivalentTo Macroglossia -MONDO:0867264 beckwith-wiedemann syndrome GARD:3343 MONDO:equivalentTo Beckwith-Wiedemann syndrome -MONDO:0867265 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome GARD:3347 MONDO:equivalentTo Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome -MONDO:0867266 blepharophimosis-intellectual disability syndrome, ohdo type GARD:3348 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, Ohdo type -MONDO:0867267 autosomal dominant primary hypomagnesemia with hypocalciuria GARD:3350 MONDO:equivalentTo Autosomal dominant primary hypomagnesemia with hypocalciuria -MONDO:0867268 autosomal recessive spastic paraplegia type 23 GARD:336 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 23 -MONDO:0867269 multiple pterygium-malignant hyperthermia syndrome GARD:3361 MONDO:equivalentTo Multiple pterygium-malignant hyperthermia syndrome -MONDO:0867270 malonic aciduria GARD:3371 MONDO:equivalentTo Malonic aciduria -MONDO:0867271 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome GARD:3373 MONDO:equivalentTo Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome -MONDO:0867272 mandibuloacral dysplasia with type a lipodystrophy GARD:3374 MONDO:equivalentTo Mandibuloacral dysplasia with type A lipodystrophy -MONDO:0867273 lung agenesis-heart defect-thumb anomalies syndrome GARD:3378 MONDO:equivalentTo Lung agenesis-heart defect-thumb anomalies syndrome -MONDO:0867274 van den ende-gupta syndrome GARD:3382 MONDO:equivalentTo Van den Ende-Gupta syndrome -MONDO:0867275 marfanoid habitus-autosomal recessive intellectual disability syndrome GARD:3388 MONDO:equivalentTo Marfanoid habitus-autosomal recessive intellectual disability syndrome -MONDO:0867276 marie unna hereditary hypotrichosis GARD:3390 MONDO:equivalentTo Marie Unna hereditary hypotrichosis -MONDO:0867277 oculotrichoanal syndrome GARD:3395 MONDO:equivalentTo Oculotrichoanal syndrome -MONDO:0867278 osteocraniostenosis GARD:3396 MONDO:equivalentTo Osteocraniostenosis -MONDO:0867279 lethal recessive chondrodysplasia GARD:3399 MONDO:equivalentTo Lethal recessive chondrodysplasia -MONDO:0867280 marfanoid syndrome, de silva type GARD:3401 MONDO:equivalentTo Marfanoid syndrome, De Silva type -MONDO:0867281 cataract-intellectual disability-hypogonadism syndrome GARD:3406 MONDO:equivalentTo Cataract-intellectual disability-hypogonadism syndrome -MONDO:0867282 hennekam-beemer syndrome GARD:3409 MONDO:equivalentTo Hennekam-Beemer syndrome -MONDO:0867283 young syndrome GARD:341 MONDO:equivalentTo Young syndrome -MONDO:0867284 maternal phenylketonuria GARD:3413 MONDO:equivalentTo Maternal phenylketonuria -MONDO:0867285 mcdonough syndrome GARD:3424 MONDO:equivalentTo McDonough syndrome -MONDO:0867286 familial scaphocephaly syndrome, mcgillivray type GARD:3426 MONDO:equivalentTo Familial scaphocephaly syndrome, McGillivray type -MONDO:0867287 mckusick-kaufman syndrome GARD:3427 MONDO:equivalentTo McKusick-Kaufman syndrome -MONDO:0867288 pontocerebellar hypoplasia type 4 GARD:343 MONDO:equivalentTo Pontocerebellar hypoplasia type 4 -MONDO:0867289 cleft lip/palate-intestinal malrotation-cardiopathy syndrome GARD:3430 MONDO:equivalentTo Cleft lip/palate-intestinal malrotation-cardiopathy syndrome -MONDO:0867290 meacham syndrome GARD:3432 MONDO:equivalentTo Meacham syndrome -MONDO:0867291 meckel syndrome GARD:3436 MONDO:equivalentTo Meckel syndrome -MONDO:0867292 dysraphism-cleft lip/palate-limb reduction defects syndrome GARD:3438 MONDO:equivalentTo Dysraphism-cleft lip/palate-limb reduction defects syndrome -MONDO:0867293 pai syndrome GARD:3439 MONDO:equivalentTo Pai syndrome -MONDO:0867294 holoprosencephaly-postaxial polydactyly syndrome GARD:344 MONDO:equivalentTo Holoprosencephaly-postaxial polydactyly syndrome -MONDO:0867295 median nodule of the upper lip GARD:3440 MONDO:equivalentTo Median nodule of the upper lip -MONDO:0867296 megacystis-microcolon-intestinal hypoperistalsis syndrome GARD:3442 MONDO:equivalentTo Megacystis-microcolon-intestinal hypoperistalsis syndrome -MONDO:0867297 familial visceral myopathy GARD:3443 MONDO:equivalentTo Familial visceral myopathy -MONDO:0867298 megalencephalic leukoencephalopathy with subcortical cysts GARD:3445 MONDO:equivalentTo Megalencephalic leukoencephalopathy with subcortical cysts -MONDO:0867299 megalocornea-intellectual disability syndrome GARD:3448 MONDO:equivalentTo Megalocornea-intellectual disability syndrome -MONDO:0867300 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome GARD:3449 MONDO:equivalentTo Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome -MONDO:0867301 x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome GARD:345 MONDO:equivalentTo X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome -MONDO:0867302 primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement GARD:3451 MONDO:equivalentTo Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement -MONDO:0867303 hoyeraal-hreidarsson syndrome GARD:346 MONDO:equivalentTo Hoyeraal-Hreidarsson syndrome -MONDO:0867304 familial melanoma GARD:3460 MONDO:equivalentTo Familial melanoma -MONDO:0867305 melhem-fahl syndrome GARD:3462 MONDO:equivalentTo Melhem-Fahl syndrome -MONDO:0867306 pancreatic hypoplasia-diabetes-congenital heart disease syndrome GARD:347 MONDO:equivalentTo Pancreatic hypoplasia-diabetes-congenital heart disease syndrome -MONDO:0867307 myelomeningocele GARD:3475 MONDO:equivalentTo Myelomeningocele -MONDO:0867308 yolk sac tumor GARD:348 MONDO:equivalentTo Yolk sac tumor -MONDO:0867309 cerebrooculonasal syndrome GARD:3480 MONDO:equivalentTo Cerebrooculonasal syndrome -MONDO:0867310 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome GARD:3482 MONDO:equivalentTo Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome -MONDO:0867311 intellectual disability, buenos-aires type GARD:3485 MONDO:equivalentTo Intellectual disability, Buenos-Aires type -MONDO:0867312 hernández-aguirre negrete syndrome GARD:3491 MONDO:equivalentTo Hernández-Aguirre Negrete syndrome -MONDO:0867313 tetrasomy 18p GARD:35 MONDO:equivalentTo Tetrasomy 18p -MONDO:0867314 skeletal dysplasia-epilepsy-short stature syndrome GARD:350 MONDO:equivalentTo Skeletal dysplasia-epilepsy-short stature syndrome -MONDO:0867315 severe intellectual disability-progressive spastic diplegia syndrome GARD:3505 MONDO:equivalentTo Severe intellectual disability-progressive spastic diplegia syndrome -MONDO:0867316 x-linked intellectual disability-psychosis-macroorchidism syndrome GARD:3506 MONDO:equivalentTo X-linked intellectual disability-psychosis-macroorchidism syndrome -MONDO:0867317 dacryocystitis-osteopoikilosis syndrome GARD:351 MONDO:equivalentTo Dacryocystitis-osteopoikilosis syndrome -MONDO:0867318 intellectual disability-short stature-hypertelorism syndrome GARD:3514 MONDO:equivalentTo Intellectual disability-short stature-hypertelorism syndrome -MONDO:0867319 metaphyseal acroscyphodysplasia GARD:3519 MONDO:equivalentTo Metaphyseal acroscyphodysplasia -MONDO:0867320 x-linked skeletal dysplasia-intellectual disability syndrome GARD:3520 MONDO:equivalentTo X-linked skeletal dysplasia-intellectual disability syndrome -MONDO:0867321 intellectual disability-spasticity-ectrodactyly syndrome GARD:3523 MONDO:equivalentTo Intellectual disability-spasticity-ectrodactyly syndrome -MONDO:0867322 mietens syndrome GARD:3524 MONDO:equivalentTo Mietens syndrome -MONDO:0867323 intellectual disability, wolff type GARD:3530 MONDO:equivalentTo Intellectual disability, Wolff type -MONDO:0867324 monoamine oxidase a deficiency GARD:3531 MONDO:equivalentTo Monoamine oxidase A deficiency -MONDO:0867325 atkin-flaitz syndrome GARD:3537 MONDO:equivalentTo Atkin-Flaitz syndrome -MONDO:0867326 osteopenia-intellectual disability-sparse hair syndrome GARD:354 MONDO:equivalentTo Osteopenia-intellectual disability-sparse hair syndrome -MONDO:0867327 mesomelic dwarfism-cleft palate-camptodactyly syndrome GARD:3552 MONDO:equivalentTo Mesomelic dwarfism-cleft palate-camptodactyly syndrome -MONDO:0867328 langer mesomelic dysplasia GARD:3553 MONDO:equivalentTo Langer mesomelic dysplasia -MONDO:0867329 mesomelic dysplasia, nievergelt type GARD:3554 MONDO:equivalentTo Mesomelic dysplasia, Nievergelt type -MONDO:0867330 mesomelic dwarfism, reinhardt-pfeiffer type GARD:3555 MONDO:equivalentTo Mesomelic dwarfism, Reinhardt-Pfeiffer type -MONDO:0867331 syndactyly type 8 GARD:3559 MONDO:equivalentTo Syndactyly type 8 -MONDO:0867332 metachondromatosis GARD:3560 MONDO:equivalentTo Metachondromatosis -MONDO:0867333 metaphyseal anadysplasia GARD:3562 MONDO:equivalentTo Metaphyseal anadysplasia -MONDO:0867334 metaphyseal chondrodysplasia, spahr type GARD:3563 MONDO:equivalentTo Metaphyseal chondrodysplasia, Spahr type -MONDO:0867335 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome GARD:3566 MONDO:equivalentTo Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome -MONDO:0867336 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome GARD:3568 MONDO:equivalentTo Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome -MONDO:0867337 metatropic dysplasia GARD:3571 MONDO:equivalentTo Metatropic dysplasia -MONDO:0867338 methimazole embryofetopathy GARD:3573 MONDO:equivalentTo Methimazole embryofetopathy -MONDO:0867339 fetal methylmercury syndrome GARD:3575 MONDO:equivalentTo Fetal methylmercury syndrome -MONDO:0867340 methylcobalamin deficiency type cble GARD:3576 MONDO:equivalentTo Methylcobalamin deficiency type cblE -MONDO:0867341 methylcobalamin deficiency type cblg GARD:3577 MONDO:equivalentTo Methylcobalamin deficiency type cblG -MONDO:0867342 methylmalonic acidemia with homocystinuria GARD:3579 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria -MONDO:0867343 w syndrome GARD:358 MONDO:equivalentTo W syndrome -MONDO:0867344 methylmalonic acidemia with homocystinuria, type cbld GARD:3582 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblD -MONDO:0867345 methylmalonic acidemia with homocystinuria type cblf GARD:3584 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria type cblF -MONDO:0867346 vitamin b12-unresponsive methylmalonic acidemia GARD:3586 MONDO:equivalentTo Vitamin B12-unresponsive methylmalonic acidemia -MONDO:0867347 mevalonic aciduria GARD:3588 MONDO:equivalentTo Mevalonic aciduria -MONDO:0867348 multiple benign circumferential skin creases on limbs GARD:3589 MONDO:equivalentTo Multiple benign circumferential skin creases on limbs -MONDO:0867349 cranioectodermal dysplasia GARD:359 MONDO:equivalentTo Cranioectodermal dysplasia -MONDO:0867350 microbrachycephaly-ptosis-cleft lip syndrome GARD:3596 MONDO:equivalentTo Microbrachycephaly-ptosis-cleft lip syndrome -MONDO:0867351 abruzzo-erickson syndrome GARD:360 MONDO:equivalentTo Abruzzo-Erickson syndrome -MONDO:0867352 microcephalic primordial dwarfism, toriello type GARD:3602 MONDO:equivalentTo Microcephalic primordial dwarfism, Toriello type -MONDO:0867353 isolated congenital microcephaly GARD:3603 MONDO:equivalentTo Isolated congenital microcephaly -MONDO:0867354 microcephaly-albinism-digital anomalies syndrome GARD:3604 MONDO:equivalentTo Microcephaly-albinism-digital anomalies syndrome -MONDO:0867355 autosomal dominant primary microcephaly GARD:3605 MONDO:equivalentTo Autosomal dominant primary microcephaly -MONDO:0867356 microcephaly-brain defect-spasticity-hypernatremia syndrome GARD:3607 MONDO:equivalentTo Microcephaly-brain defect-spasticity-hypernatremia syndrome -MONDO:0867357 microcephaly-cardiomyopathy syndrome GARD:3609 MONDO:equivalentTo Microcephaly-cardiomyopathy syndrome -MONDO:0867358 acalvaria GARD:361 MONDO:equivalentTo Acalvaria -MONDO:0867359 microcephaly-cervical spine fusion anomalies syndrome GARD:3610 MONDO:equivalentTo Microcephaly-cervical spine fusion anomalies syndrome -MONDO:0867360 microcephaly-glomerulonephritis-marfanoid habitus syndrome GARD:3615 MONDO:equivalentTo Microcephaly-glomerulonephritis-marfanoid habitus syndrome -MONDO:0867361 mikati-najjar-sahli syndrome GARD:3617 MONDO:equivalentTo Mikati-Najjar-Sahli syndrome -MONDO:0867362 microcephaly-lymphedema-chorioretinopathy syndrome GARD:3622 MONDO:equivalentTo Microcephaly-lymphedema-chorioretinopathy syndrome -MONDO:0867363 microcephaly-microcornea syndrome, seemanova type GARD:3627 MONDO:equivalentTo Microcephaly-microcornea syndrome, Seemanova type -MONDO:0867364 acatalasemia GARD:363 MONDO:equivalentTo Acatalasemia -MONDO:0867365 congenital microcoria GARD:3635 MONDO:equivalentTo Congenital microcoria -MONDO:0867366 microcornea-glaucoma-absent frontal sinuses syndrome GARD:3637 MONDO:equivalentTo Microcornea-glaucoma-absent frontal sinuses syndrome -MONDO:0867367 isolated arrhinia GARD:364 MONDO:equivalentTo Isolated arrhinia -MONDO:0867368 microgastria-limb reduction defect syndrome GARD:3640 MONDO:equivalentTo Microgastria-limb reduction defect syndrome -MONDO:0867369 autosomal dominant omodysplasia GARD:3643 MONDO:equivalentTo Autosomal dominant omodysplasia -MONDO:0867370 colobomatous microphthalmia GARD:3644 MONDO:equivalentTo Colobomatous microphthalmia -MONDO:0867371 microphthalmia with brain and digit anomalies GARD:3645 MONDO:equivalentTo Microphthalmia with brain and digit anomalies -MONDO:0867372 aromatase deficiency GARD:365 MONDO:equivalentTo Aromatase deficiency -MONDO:0867373 microphthalmia-microtia-fetal akinesia syndrome GARD:3650 MONDO:equivalentTo Microphthalmia-microtia-fetal akinesia syndrome -MONDO:0867374 microscopic polyangiitis GARD:3652 MONDO:equivalentTo Microscopic polyangiitis -MONDO:0867375 oculoauriculovertebral spectrum with radial defects GARD:3653 MONDO:equivalentTo Oculoauriculovertebral spectrum with radial defects -MONDO:0867376 microsporidiosis GARD:3655 MONDO:equivalentTo Microsporidiosis -MONDO:0867377 microphthalmia with linear skin defects syndrome GARD:3659 MONDO:equivalentTo Microphthalmia with linear skin defects syndrome -MONDO:0867378 miller fisher syndrome GARD:3668 MONDO:equivalentTo Miller Fisher syndrome -MONDO:0867379 miller-dieker syndrome GARD:3669 MONDO:equivalentTo Miller-Dieker syndrome -MONDO:0867380 mitochondrial dna-associated leigh syndrome GARD:3671 MONDO:equivalentTo Mitochondrial DNA-associated Leigh syndrome -MONDO:0867381 non-spherocytic hemolytic anemia due to hexokinase deficiency GARD:3672 MONDO:equivalentTo Non-spherocytic hemolytic anemia due to hexokinase deficiency -MONDO:0867382 laryngo-onycho-cutaneous syndrome GARD:368 MONDO:equivalentTo Laryngo-onycho-cutaneous syndrome -MONDO:0867383 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria GARD:3681 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria -MONDO:0867384 mitochondrial myopathy-lactic acidosis-deafness syndrome GARD:3682 MONDO:equivalentTo Mitochondrial myopathy-lactic acidosis-deafness syndrome -MONDO:0867385 mitochondrial trifunctional protein deficiency GARD:3684 MONDO:equivalentTo Mitochondrial trifunctional protein deficiency -MONDO:0867386 mitral atresia GARD:3685 MONDO:equivalentTo Mitral atresia -MONDO:0867387 familial mitral valve prolapse GARD:3687 MONDO:equivalentTo Familial mitral valve prolapse -MONDO:0867388 xq21 microdeletion syndrome GARD:369 MONDO:equivalentTo Xq21 microdeletion syndrome -MONDO:0867389 melorheostosis with osteopoikilosis GARD:3690 MONDO:equivalentTo Melorheostosis with osteopoikilosis -MONDO:0867390 syndromic microphthalmia type 5 GARD:3692 MONDO:equivalentTo Syndromic microphthalmia type 5 -MONDO:0867391 mmep syndrome GARD:3693 MONDO:equivalentTo MMEP syndrome -MONDO:0867392 mody GARD:3697 MONDO:equivalentTo MODY -MONDO:0867393 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome GARD:3698 MONDO:equivalentTo Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome -MONDO:0867394 fryns syndrome GARD:3699 MONDO:equivalentTo Fryns syndrome -MONDO:0867395 partial deletion of the short arm of chromosome 3 GARD:37 MONDO:equivalentTo Partial deletion of the short arm of chromosome 3 -MONDO:0867396 cholestasis-lymphedema syndrome GARD:370 MONDO:equivalentTo Cholestasis-lymphedema syndrome -MONDO:0867397 orofaciodigital syndrome type 2 GARD:3701 MONDO:equivalentTo Orofaciodigital syndrome type 2 -MONDO:0867398 choroidal atrophy-alopecia syndrome GARD:3704 MONDO:equivalentTo Choroidal atrophy-alopecia syndrome -MONDO:0867399 sulfite oxidase deficiency due to molybdenum cofactor deficiency GARD:3705 MONDO:equivalentTo Sulfite oxidase deficiency due to molybdenum cofactor deficiency -MONDO:0867400 tetramelic monodactyly GARD:3707 MONDO:equivalentTo Tetramelic monodactyly -MONDO:0867401 qazi-markouizos syndrome GARD:371 MONDO:equivalentTo Qazi-Markouizos syndrome -MONDO:0867402 distal monosomy 10q GARD:3711 MONDO:equivalentTo Distal monosomy 10q -MONDO:0867403 neurofibromatosis-noonan syndrome GARD:372 MONDO:equivalentTo Neurofibromatosis-Noonan syndrome -MONDO:0867404 quinquaud folliculitis decalvans GARD:373 MONDO:equivalentTo Quinquaud folliculitis decalvans -MONDO:0867405 1q41q42 microdeletion syndrome GARD:3738 MONDO:equivalentTo 1q41q42 microdeletion syndrome -MONDO:0867406 pectus excavatum-macrocephaly-dysplastic nails syndrome GARD:374 MONDO:equivalentTo Pectus excavatum-macrocephaly-dysplastic nails syndrome -MONDO:0867407 2q24 microdeletion syndrome GARD:3746 MONDO:equivalentTo 2q24 microdeletion syndrome -MONDO:0867408 cleft lip/palate-ectodermal dysplasia syndrome GARD:375 MONDO:equivalentTo Cleft lip/palate-ectodermal dysplasia syndrome -MONDO:0867409 distal monosomy 3p GARD:3750 MONDO:equivalentTo Distal monosomy 3p -MONDO:0867410 acheiropodia GARD:376 MONDO:equivalentTo Acheiropodia -MONDO:0867411 6q25 microdeletion syndrome GARD:3764 MONDO:equivalentTo 6q25 microdeletion syndrome -MONDO:0867412 familial monosomy 7 syndrome GARD:3765 MONDO:equivalentTo Familial monosomy 7 syndrome -MONDO:0867413 8p23.1 microdeletion syndrome GARD:3769 MONDO:equivalentTo 8p23.1 microdeletion syndrome -MONDO:0867414 congenital absence/hypoplasia of fingers excluding thumb, unilateral GARD:377 MONDO:equivalentTo Congenital absence/hypoplasia of fingers excluding thumb, unilateral -MONDO:0867415 monosomy 9p GARD:3773 MONDO:equivalentTo Monosomy 9p -MONDO:0867416 johnson neuroectodermal syndrome GARD:378 MONDO:equivalentTo Johnson neuroectodermal syndrome -MONDO:0867417 mucopolysaccharidosis type 4a GARD:3785 MONDO:equivalentTo Mucopolysaccharidosis type 4A -MONDO:0867418 mucopolysaccharidosis type 4b GARD:3786 MONDO:equivalentTo Mucopolysaccharidosis type 4B -MONDO:0867419 vipoma GARD:3787 MONDO:equivalentTo VIPoma -MONDO:0867420 lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome GARD:3788 MONDO:equivalentTo Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome -MONDO:0867421 renal tubular dysgenesis GARD:379 MONDO:equivalentTo Renal tubular dysgenesis -MONDO:0867422 peripheral motor neuropathy-dysautonomia syndrome GARD:3791 MONDO:equivalentTo Peripheral motor neuropathy-dysautonomia syndrome -MONDO:0867423 mounier-kühn syndrome GARD:3793 MONDO:equivalentTo Mounier-Kühn syndrome -MONDO:0867424 spastic ataxia-corneal dystrophy syndrome GARD:3795 MONDO:equivalentTo Spastic ataxia-corneal dystrophy syndrome -MONDO:0867425 knobloch syndrome GARD:380 MONDO:equivalentTo Knobloch syndrome -MONDO:0867426 mucolipidosis type iii GARD:3806 MONDO:equivalentTo Mucolipidosis type III -MONDO:0867427 mucopolysaccharidosis type 3 GARD:3807 MONDO:equivalentTo Mucopolysaccharidosis type 3 -MONDO:0867428 arachnodactyly-abnormal ossification-intellectual disability syndrome GARD:381 MONDO:equivalentTo Arachnodactyly-abnormal ossification-intellectual disability syndrome -MONDO:0867429 multicentric carpo-tarsal osteolysis with or without nephropathy GARD:3818 MONDO:equivalentTo Multicentric carpo-tarsal osteolysis with or without nephropathy -MONDO:0867430 multiple carboxylase deficiency GARD:3824 MONDO:equivalentTo Multiple carboxylase deficiency -MONDO:0867431 multiple endocrine neoplasia type 1 GARD:3829 MONDO:equivalentTo Multiple endocrine neoplasia type 1 -MONDO:0867432 albers-schönberg osteopetrosis GARD:383 MONDO:equivalentTo Albers-Schönberg osteopetrosis -MONDO:0867433 multiple endocrine neoplasia type 2 GARD:3830 MONDO:equivalentTo Multiple endocrine neoplasia type 2 -MONDO:0867434 lethal multiple pterygium syndrome GARD:3834 MONDO:equivalentTo Lethal multiple pterygium syndrome -MONDO:0867435 multiple synostoses syndrome GARD:3836 MONDO:equivalentTo Multiple synostoses syndrome -MONDO:0867436 adult syndrome GARD:384 MONDO:equivalentTo ADULT syndrome -MONDO:0867437 laminin subunit alpha 2-related congenital muscular dystrophy GARD:3843 MONDO:equivalentTo Laminin subunit alpha 2-related congenital muscular dystrophy -MONDO:0867438 trim32-related limb-girdle muscular dystrophy r8 GARD:3844 MONDO:equivalentTo TRIM32-related limb-girdle muscular dystrophy R8 -MONDO:0867439 zimmermann-laband syndrome GARD:385 MONDO:equivalentTo Zimmermann-Laband syndrome -MONDO:0867440 beta-sarcoglycan-related limb-girdle muscular dystrophy r4 GARD:3851 MONDO:equivalentTo Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 -MONDO:0867441 becker nevus syndrome GARD:3856 MONDO:equivalentTo Becker nevus syndrome -MONDO:0867442 glycogen storage disease due to muscle phosphorylase kinase deficiency GARD:3858 MONDO:equivalentTo Glycogen storage disease due to muscle phosphorylase kinase deficiency -MONDO:0867443 tetraamelia-multiple malformations syndrome GARD:386 MONDO:equivalentTo Tetraamelia-multiple malformations syndrome -MONDO:0867444 mycetoma GARD:3862 MONDO:equivalentTo Mycetoma -MONDO:0867445 classic mycosis fungoides GARD:3863 MONDO:equivalentTo Classic mycosis fungoides -MONDO:0867446 ataxia-pancytopenia syndrome GARD:3865 MONDO:equivalentTo Ataxia-pancytopenia syndrome -MONDO:0867447 myeloperoxidase deficiency GARD:3868 MONDO:equivalentTo Myeloperoxidase deficiency -MONDO:0867448 combined immunodeficiency due to zap70 deficiency GARD:387 MONDO:equivalentTo Combined immunodeficiency due to ZAP70 deficiency -MONDO:0867449 progressive myoclonic epilepsy type 6 GARD:3872 MONDO:equivalentTo Progressive myoclonic epilepsy type 6 -MONDO:0867450 myoclonus-cerebellar ataxia-deafness syndrome GARD:3873 MONDO:equivalentTo Myoclonus-cerebellar ataxia-deafness syndrome -MONDO:0867451 spinal muscular atrophy-progressive myoclonic epilepsy syndrome GARD:3875 MONDO:equivalentTo Spinal muscular atrophy-progressive myoclonic epilepsy syndrome -MONDO:0867452 progressive myoclonic epilepsy type 1 GARD:3876 MONDO:equivalentTo Progressive myoclonic epilepsy type 1 -MONDO:0867453 myopathy and diabetes mellitus GARD:3881 MONDO:equivalentTo Myopathy and diabetes mellitus -MONDO:0867454 tubular aggregate myopathy GARD:3884 MONDO:equivalentTo Tubular aggregate myopathy -MONDO:0867455 mitochondrial myopathy and sideroblastic anemia GARD:3885 MONDO:equivalentTo Mitochondrial myopathy and sideroblastic anemia -MONDO:0867456 carey-fineman-ziter syndrome GARD:3889 MONDO:equivalentTo Carey-Fineman-Ziter syndrome -MONDO:0867457 x-linked myopathy with excessive autophagy GARD:3892 MONDO:equivalentTo X-linked myopathy with excessive autophagy -MONDO:0867458 inclusion body myositis GARD:3896 MONDO:equivalentTo Inclusion body myositis -MONDO:0867459 wt limb-blood syndrome GARD:39 MONDO:equivalentTo WT limb-blood syndrome -MONDO:0867460 endosteal hyperostosis, worth type GARD:390 MONDO:equivalentTo Endosteal hyperostosis, Worth type -MONDO:0867461 n syndrome GARD:3902 MONDO:equivalentTo N syndrome -MONDO:0867462 alpha-n-acetylgalactosaminidase deficiency type 3 GARD:3903 MONDO:equivalentTo Alpha-N-acetylgalactosaminidase deficiency type 3 -MONDO:0867463 nijmegen breakage syndrome GARD:3904 MONDO:equivalentTo Nijmegen breakage syndrome -MONDO:0867464 isolated complex i deficiency GARD:3908 MONDO:equivalentTo Isolated complex I deficiency -MONDO:0867465 osteomesopyknosis GARD:391 MONDO:equivalentTo Osteomesopyknosis -MONDO:0867466 naegeli-franceschetti-jadassohn syndrome GARD:3912 MONDO:equivalentTo Naegeli-Franceschetti-Jadassohn syndrome -MONDO:0867467 isolated growth hormone deficiency type ib GARD:3919 MONDO:equivalentTo Isolated growth hormone deficiency type IB -MONDO:0867468 isolated growth hormone deficiency type iii GARD:3921 MONDO:equivalentTo Isolated growth hormone deficiency type III -MONDO:0867469 growth hormone insensitivity syndrome GARD:3924 MONDO:equivalentTo Growth hormone insensitivity syndrome -MONDO:0867470 nasopalpebral lipoma-coloboma syndrome GARD:3927 MONDO:equivalentTo Nasopalpebral lipoma-coloboma syndrome -MONDO:0867471 neuronal intestinal pseudoobstruction GARD:3928 MONDO:equivalentTo Neuronal intestinal pseudoobstruction -MONDO:0867472 nathalie syndrome GARD:3929 MONDO:equivalentTo Nathalie syndrome -MONDO:0867473 tungiasis GARD:393 MONDO:equivalentTo Tungiasis -MONDO:0867474 rheumatoid factor-negative polyarticular juvenile idiopathic arthritis GARD:3931 MONDO:equivalentTo Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis -MONDO:0867475 perlman syndrome GARD:3936 MONDO:equivalentTo Perlman syndrome -MONDO:0867476 radioulnar synostosis-microcephaly-scoliosis syndrome GARD:394 MONDO:equivalentTo Radioulnar synostosis-microcephaly-scoliosis syndrome -MONDO:0867477 nephropathy-deafness-hyperparathyroidism syndrome GARD:3940 MONDO:equivalentTo Nephropathy-deafness-hyperparathyroidism syndrome -MONDO:0867478 nephrosis-deafness-urinary tract-digital malformations syndrome GARD:3943 MONDO:equivalentTo Nephrosis-deafness-urinary tract-digital malformations syndrome -MONDO:0867479 genetic steroid-resistant nephrotic syndrome GARD:3946 MONDO:equivalentTo Genetic steroid-resistant nephrotic syndrome -MONDO:0867480 congenital isolated hyperinsulinism GARD:3947 MONDO:equivalentTo Congenital isolated hyperinsulinism -MONDO:0867481 tremor-nystagmus-duodenal ulcer syndrome GARD:3948 MONDO:equivalentTo Tremor-nystagmus-duodenal ulcer syndrome -MONDO:0867482 neuhauser-eichner-opitz syndrome GARD:3949 MONDO:equivalentTo Neuhauser-Eichner-Opitz syndrome -MONDO:0867483 retinal degeneration-nanophthalmos-glaucoma syndrome GARD:395 MONDO:equivalentTo Retinal degeneration-nanophthalmos-glaucoma syndrome -MONDO:0867484 galactosialidosis GARD:3953 MONDO:equivalentTo Galactosialidosis -MONDO:0867485 choreoacanthocytosis GARD:3956 MONDO:equivalentTo Choreoacanthocytosis -MONDO:0867486 infantile neuroaxonal dystrophy GARD:3957 MONDO:equivalentTo Infantile neuroaxonal dystrophy -MONDO:0867487 tularemia GARD:396 MONDO:equivalentTo Tularemia -MONDO:0867488 neurofaciodigitorenal syndrome GARD:3964 MONDO:equivalentTo Neurofaciodigitorenal syndrome -MONDO:0867489 neurofibromatosis type 6 GARD:3967 MONDO:equivalentTo Neurofibromatosis type 6 -MONDO:0867490 neuronal intranuclear inclusion disease GARD:3971 MONDO:equivalentTo Neuronal intranuclear inclusion disease -MONDO:0867491 navajo neurohepatopathy GARD:3972 MONDO:equivalentTo Navajo neurohepatopathy -MONDO:0867492 charcot-marie-tooth disease type 4d GARD:3973 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4D -MONDO:0867493 hereditary sensory and autonomic neuropathy type 2 GARD:3976 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 2 -MONDO:0867494 neutral lipid storage disease with ichthyosis GARD:3979 MONDO:equivalentTo Neutral lipid storage disease with ichthyosis -MONDO:0867495 x-linked severe congenital neutropenia GARD:3981 MONDO:equivalentTo X-linked severe congenital neutropenia -MONDO:0867496 neutropenia-monocytopenia-deafness syndrome GARD:3982 MONDO:equivalentTo Neutropenia-monocytopenia-deafness syndrome -MONDO:0867497 familial multiple nevi flammei GARD:3986 MONDO:equivalentTo Familial multiple nevi flammei -MONDO:0867498 46,xx testicular disorder of sex development GARD:399 MONDO:equivalentTo 46,XX testicular disorder of sex development -MONDO:0867499 night blindness-skeletal anomalies-dysmorphism syndrome GARD:3994 MONDO:equivalentTo Night blindness-skeletal anomalies-dysmorphism syndrome -MONDO:0867500 congenital stationary night blindness GARD:3995 MONDO:equivalentTo Congenital stationary night blindness -MONDO:0867501 ectopia lentis-chorioretinal dystrophy-myopia syndrome GARD:3999 MONDO:equivalentTo Ectopia lentis-chorioretinal dystrophy-myopia syndrome -MONDO:0867502 gapo syndrome GARD:400 MONDO:equivalentTo GAPO syndrome -MONDO:0867503 noma GARD:4001 MONDO:equivalentTo Noma -MONDO:0867504 maternally-inherited diabetes and deafness GARD:4003 MONDO:equivalentTo Maternally-inherited diabetes and deafness -MONDO:0867505 progressive epilepsy-intellectual disability syndrome, finnish type GARD:4010 MONDO:equivalentTo Progressive epilepsy-intellectual disability syndrome, Finnish type -MONDO:0867506 familial lcat deficiency GARD:4011 MONDO:equivalentTo Familial LCAT deficiency -MONDO:0867507 port-wine nevi-mega cisterna magna-hydrocephalus syndrome GARD:4014 MONDO:equivalentTo Port-wine nevi-mega cisterna magna-hydrocephalus syndrome -MONDO:0867508 occipital horn syndrome GARD:4017 MONDO:equivalentTo Occipital horn syndrome -MONDO:0867509 primary tethered cord syndrome GARD:4018 MONDO:equivalentTo Primary tethered cord syndrome -MONDO:0867510 oculoauriculofrontonasal syndrome GARD:4031 MONDO:equivalentTo Oculoauriculofrontonasal syndrome -MONDO:0867511 oculocerebral hypopigmentation syndrome, preus type GARD:4034 MONDO:equivalentTo Oculocerebral hypopigmentation syndrome, Preus type -MONDO:0867512 oculocutaneous albinism type 1 GARD:4037 MONDO:equivalentTo Oculocutaneous albinism type 1 -MONDO:0867513 oculocutaneous albinism type 2 GARD:4038 MONDO:equivalentTo Oculocutaneous albinism type 2 -MONDO:0867514 oculocutaneous albinism type 3 GARD:4039 MONDO:equivalentTo Oculocutaneous albinism type 3 -MONDO:0867515 osteoporosis-oculocutaneous hypopigmentation syndrome GARD:404 MONDO:equivalentTo Osteoporosis-oculocutaneous hypopigmentation syndrome -MONDO:0867516 oculomaxillofacial dysostosis GARD:4046 MONDO:equivalentTo Oculomaxillofacial dysostosis -MONDO:0867517 arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome GARD:4047 MONDO:equivalentTo Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome -MONDO:0867518 subaortic stenosis-short stature syndrome GARD:405 MONDO:equivalentTo Subaortic stenosis-short stature syndrome -MONDO:0867519 severe oculo-renal-cerebellar syndrome GARD:4050 MONDO:equivalentTo Severe oculo-renal-cerebellar syndrome -MONDO:0867520 odonto-onycho dysplasia-alopecia syndrome GARD:4051 MONDO:equivalentTo Odonto-onycho dysplasia-alopecia syndrome -MONDO:0867521 odontomicronychial dysplasia GARD:4053 MONDO:equivalentTo Odontomicronychial dysplasia -MONDO:0867522 odonto-onycho-dermal dysplasia GARD:4054 MONDO:equivalentTo Odonto-onycho-dermal dysplasia -MONDO:0867523 foveal hypoplasia-presenile cataract syndrome GARD:406 MONDO:equivalentTo Foveal hypoplasia-presenile cataract syndrome -MONDO:0867524 orofaciodigital syndrome type 8 GARD:4060 MONDO:equivalentTo Orofaciodigital syndrome type 8 -MONDO:0867525 orofaciodigital syndrome type 10 GARD:4061 MONDO:equivalentTo Orofaciodigital syndrome type 10 -MONDO:0867526 infantile-onset spinocerebellar ataxia GARD:4062 MONDO:equivalentTo Infantile-onset spinocerebellar ataxia -MONDO:0867527 okamoto syndrome GARD:4064 MONDO:equivalentTo Okamoto syndrome -MONDO:0867528 postaxial tetramelic oligodactyly GARD:4065 MONDO:equivalentTo Postaxial tetramelic oligodactyly -MONDO:0867529 oligomeganephronia GARD:4066 MONDO:equivalentTo Oligomeganephronia -MONDO:0867530 oliver syndrome GARD:4069 MONDO:equivalentTo Oliver syndrome -MONDO:0867531 ermine phenotype GARD:407 MONDO:equivalentTo Ermine phenotype -MONDO:0867532 olivopontocerebellar atrophy-deafness syndrome GARD:4070 MONDO:equivalentTo Olivopontocerebellar atrophy-deafness syndrome -MONDO:0867533 spinocerebellar ataxia type 1 GARD:4071 MONDO:equivalentTo Spinocerebellar ataxia type 1 -MONDO:0867534 spinocerebellar ataxia type 2 GARD:4072 MONDO:equivalentTo Spinocerebellar ataxia type 2 -MONDO:0867535 mutilating palmoplantar keratoderma with periorificial keratotic plaques GARD:4075 MONDO:equivalentTo Mutilating palmoplantar keratoderma with periorificial keratotic plaques -MONDO:0867536 autosomal recessive omodysplasia GARD:4076 MONDO:equivalentTo Autosomal recessive omodysplasia -MONDO:0867537 lethal omphalocele-cleft palate syndrome GARD:4079 MONDO:equivalentTo Lethal omphalocele-cleft palate syndrome -MONDO:0867538 short stature due to growth hormone qualitative anomaly GARD:408 MONDO:equivalentTo Short stature due to growth hormone qualitative anomaly -MONDO:0867539 cloacal exstrophy GARD:4080 MONDO:equivalentTo Cloacal exstrophy -MONDO:0867540 omphalomesenteric cyst GARD:4081 MONDO:equivalentTo Omphalomesenteric cyst -MONDO:0867541 cooks syndrome GARD:4083 MONDO:equivalentTo Cooks syndrome -MONDO:0867542 poikiloderma with neutropenia GARD:4085 MONDO:equivalentTo Poikiloderma with neutropenia -MONDO:0867543 pachygyria-intellectual disability-epilepsy syndrome GARD:409 MONDO:equivalentTo Pachygyria-intellectual disability-epilepsy syndrome -MONDO:0867544 opsismodysplasia GARD:4098 MONDO:equivalentTo Opsismodysplasia -MONDO:0867545 renal coloboma syndrome GARD:4106 MONDO:equivalentTo Renal coloboma syndrome -MONDO:0867546 optic pathway glioma GARD:4107 MONDO:equivalentTo Optic pathway glioma -MONDO:0867547 sanjad-sakati syndrome GARD:411 MONDO:equivalentTo Sanjad-Sakati syndrome -MONDO:0867548 oromandibular-limb hypogenesis syndrome GARD:4116 MONDO:equivalentTo Oromandibular-limb hypogenesis syndrome -MONDO:0867549 orofaciodigital syndrome type 11 GARD:4118 MONDO:equivalentTo Orofaciodigital syndrome type 11 -MONDO:0867550 x-linked intellectual disability, shashi type GARD:4119 MONDO:equivalentTo X-linked intellectual disability, Shashi type -MONDO:0867551 cheilitis glandularis GARD:412 MONDO:equivalentTo Cheilitis glandularis -MONDO:0867552 orofaciodigital syndrome type 5 GARD:4120 MONDO:equivalentTo Orofaciodigital syndrome type 5 -MONDO:0867553 orofaciodigital syndrome type 1 GARD:4121 MONDO:equivalentTo Orofaciodigital syndrome type 1 -MONDO:0867554 oslam syndrome GARD:4129 MONDO:equivalentTo OSLAM syndrome -MONDO:0867555 geroderma osteodysplastica GARD:413 MONDO:equivalentTo Geroderma osteodysplastica -MONDO:0867556 otospondylomegaepiphyseal dysplasia GARD:4130 MONDO:equivalentTo Otospondylomegaepiphyseal dysplasia -MONDO:0867557 thiemann disease, familial form GARD:4131 MONDO:equivalentTo Thiemann disease, familial form -MONDO:0867558 familial osteochondritis dissecans GARD:4133 MONDO:equivalentTo Familial osteochondritis dissecans -MONDO:0867559 familial osteodysplasia, anderson type GARD:4136 MONDO:equivalentTo Familial osteodysplasia, Anderson type -MONDO:0867560 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome GARD:4139 MONDO:equivalentTo Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome -MONDO:0867561 bamforth-lazarus syndrome GARD:414 MONDO:equivalentTo Bamforth-Lazarus syndrome -MONDO:0867562 osteoglosphonic dysplasia GARD:4142 MONDO:equivalentTo Osteoglosphonic dysplasia -MONDO:0867563 osteopathia striata-cranial sclerosis syndrome GARD:4148 MONDO:equivalentTo Osteopathia striata-cranial sclerosis syndrome -MONDO:0867564 pseudoprogeria syndrome GARD:415 MONDO:equivalentTo Pseudoprogeria syndrome -MONDO:0867565 autosomal dominant osteopetrosis type 1 GARD:4151 MONDO:equivalentTo Autosomal dominant osteopetrosis type 1 -MONDO:0867566 osteopetrosis with renal tubular acidosis GARD:4154 MONDO:equivalentTo Osteopetrosis with renal tubular acidosis -MONDO:0867567 osteopetrosis and related disorders GARD:4155 MONDO:equivalentTo Osteopetrosis and related disorders -MONDO:0867568 intermediate osteopetrosis GARD:4156 MONDO:equivalentTo Intermediate osteopetrosis -MONDO:0867569 osteoporosis-pseudoglioma syndrome GARD:4160 MONDO:equivalentTo Osteoporosis-pseudoglioma syndrome -MONDO:0867570 foix-alajouanine syndrome GARD:4163 MONDO:equivalentTo Foix-Alajouanine syndrome -MONDO:0867571 heart defect-tongue hamartoma-polysyndactyly syndrome GARD:4166 MONDO:equivalentTo Heart defect-tongue hamartoma-polysyndactyly syndrome -MONDO:0867572 otodental syndrome GARD:4168 MONDO:equivalentTo Otodental syndrome -MONDO:0867573 otofaciocervical syndrome GARD:4169 MONDO:equivalentTo Otofaciocervical syndrome -MONDO:0867574 otoonychoperoneal syndrome GARD:4170 MONDO:equivalentTo Otoonychoperoneal syndrome -MONDO:0867575 benign paroxysmal tonic upgaze of childhood with ataxia GARD:4176 MONDO:equivalentTo Benign paroxysmal tonic upgaze of childhood with ataxia -MONDO:0867576 pentosuria GARD:418 MONDO:equivalentTo Pentosuria -MONDO:0867577 overhydrated hereditary stomatocytosis GARD:4183 MONDO:equivalentTo Overhydrated hereditary stomatocytosis -MONDO:0867578 epiphyseal stippling-osteoclastic hyperplasia syndrome GARD:4189 MONDO:equivalentTo Epiphyseal stippling-osteoclastic hyperplasia syndrome -MONDO:0867579 extramammary paget disease GARD:4192 MONDO:equivalentTo Extramammary Paget disease -MONDO:0867580 hydrocephaly-low insertion umbilicus syndrome GARD:4199 MONDO:equivalentTo Hydrocephaly-low insertion umbilicus syndrome -MONDO:0867581 tetrasomy 9p GARD:42 MONDO:equivalentTo Tetrasomy 9p -MONDO:0867582 partial pancreatic agenesis GARD:4203 MONDO:equivalentTo Partial pancreatic agenesis -MONDO:0867583 adenoma of pancreas GARD:4204 MONDO:equivalentTo Adenoma of pancreas -MONDO:0867584 familial pancreatic carcinoma GARD:4206 MONDO:equivalentTo Familial pancreatic carcinoma -MONDO:0867585 pancreatoblastoma GARD:4210 MONDO:equivalentTo Pancreatoblastoma -MONDO:0867586 polyostotic fibrous dysplasia GARD:4213 MONDO:equivalentTo Polyostotic fibrous dysplasia -MONDO:0867587 papilloma of choroid plexus GARD:4214 MONDO:equivalentTo Papilloma of choroid plexus -MONDO:0867588 autosomal dominant spastic paraplegia type 17 GARD:4219 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 17 -MONDO:0867589 parastremmatic dwarfism GARD:4222 MONDO:equivalentTo Parastremmatic dwarfism -MONDO:0867590 parc syndrome GARD:4223 MONDO:equivalentTo PARC syndrome -MONDO:0867591 paris-trousseau thrombocytopenia GARD:4224 MONDO:equivalentTo Paris-Trousseau thrombocytopenia -MONDO:0867592 idiopathic ventricular fibrillation, non brugada type GARD:4227 MONDO:equivalentTo Idiopathic ventricular fibrillation, non Brugada type -MONDO:0867593 neuralgic amyotrophy GARD:4228 MONDO:equivalentTo Neuralgic amyotrophy -MONDO:0867594 partial atrioventricular septal defect GARD:4229 MONDO:equivalentTo Partial atrioventricular septal defect -MONDO:0867595 partington syndrome GARD:4235 MONDO:equivalentTo Partington syndrome -MONDO:0867596 fetal parvovirus syndrome GARD:4236 MONDO:equivalentTo Fetal parvovirus syndrome -MONDO:0867597 blepharonasofacial malformation syndrome GARD:4238 MONDO:equivalentTo Blepharonasofacial malformation syndrome -MONDO:0867598 xk aprosencephaly syndrome GARD:424 MONDO:equivalentTo XK aprosencephaly syndrome -MONDO:0867599 tufted angioma GARD:425 MONDO:equivalentTo Tufted angioma -MONDO:0867600 pseudoleprechaunism syndrome, patterson type GARD:4259 MONDO:equivalentTo Pseudoleprechaunism syndrome, Patterson type -MONDO:0867601 patterson-stevenson-fontaine syndrome GARD:4260 MONDO:equivalentTo Patterson-Stevenson-Fontaine syndrome -MONDO:0867602 oligoarticular juvenile idiopathic arthritis GARD:4261 MONDO:equivalentTo Oligoarticular juvenile idiopathic arthritis -MONDO:0867603 peho syndrome GARD:4264 MONDO:equivalentTo PEHO syndrome -MONDO:0867604 pelizaeus-merzbacher disease GARD:4265 MONDO:equivalentTo Pelizaeus-Merzbacher disease -MONDO:0867605 pelizaeus-merzbacher-like disease due to aimp1 mutation GARD:4266 MONDO:equivalentTo Pelizaeus-Merzbacher-like disease due to AIMP1 mutation -MONDO:0867606 pelvic dysplasia-arthrogryposis of lower limbs syndrome GARD:4269 MONDO:equivalentTo Pelvic dysplasia-arthrogryposis of lower limbs syndrome -MONDO:0867607 ptosis-vocal cord paralysis syndrome GARD:427 MONDO:equivalentTo Ptosis-vocal cord paralysis syndrome -MONDO:0867608 pendred syndrome GARD:4271 MONDO:equivalentTo Pendred syndrome -MONDO:0867609 penile agenesis GARD:4272 MONDO:equivalentTo Penile agenesis -MONDO:0867610 penoscrotal transposition GARD:4273 MONDO:equivalentTo Penoscrotal transposition -MONDO:0867611 acroosteolysis-keloid-like lesions-premature aging syndrome GARD:4276 MONDO:equivalentTo Acroosteolysis-keloid-like lesions-premature aging syndrome -MONDO:0867612 craniofrontonasal dysplasia-poland anomaly syndrome GARD:428 MONDO:equivalentTo Craniofrontonasal dysplasia-Poland anomaly syndrome -MONDO:0867613 constriction rings syndrome GARD:429 MONDO:equivalentTo Constriction rings syndrome -MONDO:0867614 autosomal recessive distal osteolysis syndrome GARD:4299 MONDO:equivalentTo Autosomal recessive distal osteolysis syndrome -MONDO:0867615 mosaic trisomy 9 GARD:43 MONDO:equivalentTo Mosaic trisomy 9 -MONDO:0867616 mesomelia-synostoses syndrome GARD:4302 MONDO:equivalentTo Mesomelia-synostoses syndrome -MONDO:0867617 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome GARD:4303 MONDO:equivalentTo Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome -MONDO:0867618 preaxial polydactyly-colobomata-intellectual disability syndrome GARD:4304 MONDO:equivalentTo Preaxial polydactyly-colobomata-intellectual disability syndrome -MONDO:0867619 pfeiffer-palm-teller syndrome GARD:4305 MONDO:equivalentTo Pfeiffer-Palm-Teller syndrome -MONDO:0867620 microtia GARD:431 MONDO:equivalentTo Microtia -MONDO:0867621 phakomatosis pigmentokeratotica GARD:4311 MONDO:equivalentTo Phakomatosis pigmentokeratotica -MONDO:0867622 phakomatosis pigmentovascularis GARD:4312 MONDO:equivalentTo Phakomatosis pigmentovascularis -MONDO:0867623 phenobarbital embryopathy GARD:4315 MONDO:equivalentTo Phenobarbital embryopathy -MONDO:0867624 dihydropteridine reductase deficiency GARD:4319 MONDO:equivalentTo Dihydropteridine reductase deficiency -MONDO:0867625 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome GARD:4323 MONDO:equivalentTo Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome -MONDO:0867626 pgm1-cdg GARD:4329 MONDO:equivalentTo PGM1-CDG -MONDO:0867627 apparent mineralocorticoid excess GARD:433 MONDO:equivalentTo Apparent mineralocorticoid excess -MONDO:0867628 pgm3-cdg GARD:4331 MONDO:equivalentTo PGM3-CDG -MONDO:0867629 phosphoribosylpyrophosphate synthetase superactivity GARD:4337 MONDO:equivalentTo Phosphoribosylpyrophosphate synthetase superactivity -MONDO:0867630 hydrocephalus with stenosis of the aqueduct of sylvius GARD:434 MONDO:equivalentTo Hydrocephalus with stenosis of the aqueduct of Sylvius -MONDO:0867631 piebaldism GARD:4344 MONDO:equivalentTo Piebaldism -MONDO:0867632 autosomal dominant cerebellar ataxia GARD:4346 MONDO:equivalentTo Autosomal dominant cerebellar ataxia -MONDO:0867633 isolated pierre robin syndrome GARD:4347 MONDO:equivalentTo Isolated Pierre Robin syndrome -MONDO:0867634 cleft lip-retinopathy syndrome GARD:435 MONDO:equivalentTo Cleft lip-retinopathy syndrome -MONDO:0867635 late-onset retinal degeneration GARD:4357 MONDO:equivalentTo Late-onset retinal degeneration -MONDO:0867636 severe combined immunodeficiency due to foxn1 deficiency GARD:4358 MONDO:equivalentTo Severe combined immunodeficiency due to FOXN1 deficiency -MONDO:0867637 ringed hair disease GARD:4359 MONDO:equivalentTo Ringed hair disease -MONDO:0867638 adult-onset still disease GARD:436 MONDO:equivalentTo Adult-onset Still disease -MONDO:0867639 pili torti GARD:4361 MONDO:equivalentTo Pili torti -MONDO:0867640 pili torti-developmental delay-neurological abnormalities syndrome GARD:4362 MONDO:equivalentTo Pili torti-developmental delay-neurological abnormalities syndrome -MONDO:0867641 pili torti-onychodysplasia syndrome GARD:4364 MONDO:equivalentTo Pili torti-onychodysplasia syndrome -MONDO:0867642 ophthalmomandibulomelic dysplasia GARD:4365 MONDO:equivalentTo Ophthalmomandibulomelic dysplasia -MONDO:0867643 trichodermodysplasia-dental alterations syndrome GARD:4369 MONDO:equivalentTo Trichodermodysplasia-dental alterations syndrome -MONDO:0867644 pitt-hopkins syndrome GARD:4372 MONDO:equivalentTo Pitt-Hopkins syndrome -MONDO:0867645 thumb stiffness-brachydactyly-intellectual disability syndrome GARD:4375 MONDO:equivalentTo Thumb stiffness-brachydactyly-intellectual disability syndrome -MONDO:0867646 alpha-sarcoglycan-related limb-girdle muscular dystrophy r3 GARD:438 MONDO:equivalentTo Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 -MONDO:0867647 hypoplasminogenemia GARD:4380 MONDO:equivalentTo Hypoplasminogenemia -MONDO:0867648 congenital plasminogen activator inhibitor type 1 deficiency GARD:4381 MONDO:equivalentTo Congenital plasminogen activator inhibitor type 1 deficiency -MONDO:0867649 platyspondylic dysplasia, torrance type GARD:4382 MONDO:equivalentTo Platyspondylic dysplasia, Torrance type -MONDO:0867650 pneumocystosis GARD:4386 MONDO:equivalentTo Pneumocystosis -MONDO:0867651 kindler epidermolysis bullosa GARD:4391 MONDO:equivalentTo Kindler epidermolysis bullosa -MONDO:0867652 rothmund-thomson syndrome GARD:4392 MONDO:equivalentTo Rothmund-Thomson syndrome -MONDO:0867653 haim-munk syndrome GARD:44 MONDO:equivalentTo Haim-Munk syndrome -MONDO:0867654 non-syndromic polydactyly GARD:4410 MONDO:equivalentTo Non-syndromic polydactyly -MONDO:0867655 orofaciodigital syndrome type 6 GARD:4412 MONDO:equivalentTo Orofaciodigital syndrome type 6 -MONDO:0867656 polydactyly-myopia syndrome GARD:4413 MONDO:equivalentTo Polydactyly-myopia syndrome -MONDO:0867657 polydactyly of a biphalangeal thumb GARD:4417 MONDO:equivalentTo Polydactyly of a biphalangeal thumb -MONDO:0867658 catecholaminergic polymorphic ventricular tachycardia GARD:4421 MONDO:equivalentTo Catecholaminergic polymorphic ventricular tachycardia -MONDO:0867659 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome GARD:4424 MONDO:equivalentTo Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome -MONDO:0867660 cronkhite-canada syndrome GARD:4427 MONDO:equivalentTo Cronkhite-Canada syndrome -MONDO:0867661 polysyndactyly-cardiac malformation syndrome GARD:4428 MONDO:equivalentTo Polysyndactyly-cardiac malformation syndrome -MONDO:0867662 syndactyly type 4 GARD:4434 MONDO:equivalentTo Syndactyly type 4 -MONDO:0867663 bartsocas-papas syndrome GARD:4436 MONDO:equivalentTo Bartsocas-Papas syndrome -MONDO:0867664 porencephaly-cerebellar hypoplasia-internal malformations syndrome GARD:4437 MONDO:equivalentTo Porencephaly-cerebellar hypoplasia-internal malformations syndrome -MONDO:0867665 porokeratosis of mibelli GARD:4438 MONDO:equivalentTo Porokeratosis of Mibelli -MONDO:0867666 punctate palmoplantar keratoderma type 2 GARD:4439 MONDO:equivalentTo Punctate palmoplantar keratoderma type 2 -MONDO:0867667 congenital erythropoietic porphyria GARD:4446 MONDO:equivalentTo Congenital erythropoietic porphyria -MONDO:0867668 postpoliomyelitis syndrome GARD:4454 MONDO:equivalentTo Postpoliomyelitis syndrome -MONDO:0867669 posterior uveitis GARD:4457 MONDO:equivalentTo Posterior uveitis -MONDO:0867670 potassium-aggravated myotonia GARD:4459 MONDO:equivalentTo Potassium-aggravated myotonia -MONDO:0867671 phaver syndrome GARD:4465 MONDO:equivalentTo PHAVER syndrome -MONDO:0867672 guttmacher syndrome GARD:4470 MONDO:equivalentTo Guttmacher syndrome -MONDO:0867673 familial male-limited precocious puberty GARD:4475 MONDO:equivalentTo Familial male-limited precocious puberty -MONDO:0867674 congenital prekallikrein deficiency GARD:4477 MONDO:equivalentTo Congenital prekallikrein deficiency -MONDO:0867675 vici syndrome GARD:448 MONDO:equivalentTo Vici syndrome -MONDO:0867676 x-linked intellectual disability-dysmorphism-cerebral atrophy syndrome GARD:4482 MONDO:equivalentTo X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome -MONDO:0867677 griscelli syndrome type 2 GARD:4483 MONDO:equivalentTo Griscelli syndrome type 2 -MONDO:0867678 primary ciliary dyskinesia GARD:4484 MONDO:equivalentTo Primary ciliary dyskinesia -MONDO:0867679 juvenile primary lateral sclerosis GARD:4485 MONDO:equivalentTo Juvenile primary lateral sclerosis -MONDO:0867680 intellectual disability-cataracts-calcified pinnae-myopathy syndrome GARD:4488 MONDO:equivalentTo Intellectual disability-cataracts-calcified pinnae-myopathy syndrome -MONDO:0867681 progeria-short stature-pigmented nevi syndrome GARD:4494 MONDO:equivalentTo Progeria-short stature-pigmented nevi syndrome -MONDO:0867682 progeroid syndrome, petty type GARD:4497 MONDO:equivalentTo Progeroid syndrome, Petty type -MONDO:0867683 congenital varicella syndrome GARD:45 MONDO:equivalentTo Congenital varicella syndrome -MONDO:0867684 acromelanosis GARD:4500 MONDO:equivalentTo Acromelanosis -MONDO:0867685 progressive external ophthalmoplegia GARD:4503 MONDO:equivalentTo Progressive external ophthalmoplegia -MONDO:0867686 atypical progressive supranuclear palsy syndrome GARD:4507 MONDO:equivalentTo Atypical progressive supranuclear palsy syndrome -MONDO:0867687 prolactinoma GARD:4508 MONDO:equivalentTo Prolactinoma -MONDO:0867688 proliferating trichilemmal cyst GARD:4509 MONDO:equivalentTo Proliferating trichilemmal cyst -MONDO:0867689 properdin deficiency GARD:4513 MONDO:equivalentTo Properdin deficiency -MONDO:0867690 aprosencephaly cerebellar dysgenesis GARD:4518 MONDO:equivalentTo Aprosencephaly cerebellar dysgenesis -MONDO:0867691 familial prostate cancer GARD:4520 MONDO:equivalentTo Familial prostate cancer -MONDO:0867692 transcobalamin i deficiency GARD:4522 MONDO:equivalentTo Transcobalamin I deficiency -MONDO:0867693 autosomal erythropoietic protoporphyria GARD:4527 MONDO:equivalentTo Autosomal erythropoietic protoporphyria -MONDO:0867694 corpus callosum agenesis-abnormal genitalia syndrome GARD:4528 MONDO:equivalentTo Corpus callosum agenesis-abnormal genitalia syndrome -MONDO:0867695 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome GARD:453 MONDO:equivalentTo Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome -MONDO:0867696 proximal spinal muscular atrophy GARD:4531 MONDO:equivalentTo Proximal spinal muscular atrophy -MONDO:0867697 pseudopelade of brocq GARD:4536 MONDO:equivalentTo Pseudopelade of Brocq -MONDO:0867698 bifunctional enzyme deficiency GARD:4539 MONDO:equivalentTo Bifunctional enzyme deficiency -MONDO:0867699 accessory pancreas GARD:454 MONDO:equivalentTo Accessory pancreas -MONDO:0867700 pseudoachondroplasia GARD:4540 MONDO:equivalentTo Pseudoachondroplasia -MONDO:0867701 peroxisomal acyl-coa oxidase deficiency GARD:4543 MONDO:equivalentTo Peroxisomal acyl-CoA oxidase deficiency -MONDO:0867702 pseudoaminopterin syndrome GARD:4544 MONDO:equivalentTo Pseudoaminopterin syndrome -MONDO:0867703 disorder of sex development-intellectual disability syndrome GARD:4550 MONDO:equivalentTo Disorder of sex development-intellectual disability syndrome -MONDO:0867704 generalized pseudohypoaldosteronism type 1 GARD:4552 MONDO:equivalentTo Generalized pseudohypoaldosteronism type 1 -MONDO:0867705 pseudohypoaldosteronism type 2 GARD:4553 MONDO:equivalentTo Pseudohypoaldosteronism type 2 -MONDO:0867706 acrootoocular syndrome GARD:4559 MONDO:equivalentTo Acrootoocular syndrome -MONDO:0867707 achalasia-microcephaly syndrome GARD:456 MONDO:equivalentTo Achalasia-microcephaly syndrome -MONDO:0867708 idiopathic intracranial hypertension GARD:4561 MONDO:equivalentTo Idiopathic intracranial hypertension -MONDO:0867709 pterygium colli-intellectual disability-digital anomalies syndrome GARD:4568 MONDO:equivalentTo Pterygium colli-intellectual disability-digital anomalies syndrome -MONDO:0867710 familial pterygium of the conjunctiva GARD:4569 MONDO:equivalentTo Familial pterygium of the conjunctiva -MONDO:0867711 triple a syndrome GARD:457 MONDO:equivalentTo Triple A syndrome -MONDO:0867712 antecubital pterygium syndrome GARD:4570 MONDO:equivalentTo Antecubital pterygium syndrome -MONDO:0867713 x-linked lethal multiple pterygium syndrome GARD:4573 MONDO:equivalentTo X-linked lethal multiple pterygium syndrome -MONDO:0867714 ptosis-strabismus-ectopic pupils syndrome GARD:4577 MONDO:equivalentTo Ptosis-strabismus-ectopic pupils syndrome -MONDO:0867715 spondylometaphyseal dysplasia, a4 type GARD:458 MONDO:equivalentTo Spondylometaphyseal dysplasia, A4 type -MONDO:0867716 hereditary pulmonary alveolar proteinosis GARD:4582 MONDO:equivalentTo Hereditary pulmonary alveolar proteinosis -MONDO:0867717 pulmonary arteriovenous malformation GARD:4584 MONDO:equivalentTo Pulmonary arteriovenous malformation -MONDO:0867718 abnormal origin of right or left pulmonary artery from the aorta GARD:4586 MONDO:equivalentTo Abnormal origin of right or left pulmonary artery from the aorta -MONDO:0867719 pulmonary atresia with ventricular septal defect GARD:4588 MONDO:equivalentTo Pulmonary atresia with ventricular septal defect -MONDO:0867720 peripheral pulmonary stenosis GARD:4589 MONDO:equivalentTo Peripheral pulmonary stenosis -MONDO:0867721 achondrogenesis type 1a GARD:459 MONDO:equivalentTo Achondrogenesis type 1A -MONDO:0867722 congenital pulmonary sequestration GARD:4593 MONDO:equivalentTo Congenital pulmonary sequestration -MONDO:0867723 supravalvular pulmonary stenosis GARD:4594 MONDO:equivalentTo Supravalvular pulmonary stenosis -MONDO:0867724 pulmonary valve agenesis GARD:4597 MONDO:equivalentTo Pulmonary valve agenesis -MONDO:0867725 congenital pulmonary veins atresia or stenosis GARD:4598 MONDO:equivalentTo Congenital pulmonary veins atresia or stenosis -MONDO:0867726 congenital pulmonary venous return anomaly GARD:4599 MONDO:equivalentTo Congenital pulmonary venous return anomaly -MONDO:0867727 achondrogenesis type 1b GARD:460 MONDO:equivalentTo Achondrogenesis type 1B -MONDO:0867728 pulmonary atresia-intact ventricular septum syndrome GARD:4600 MONDO:equivalentTo Pulmonary atresia-intact ventricular septum syndrome -MONDO:0867729 punctate acrokeratoderma freckle-like pigmentation GARD:4603 MONDO:equivalentTo Punctate acrokeratoderma freckle-like pigmentation -MONDO:0867730 purine nucleoside phosphorylase deficiency GARD:4606 MONDO:equivalentTo Purine nucleoside phosphorylase deficiency -MONDO:0867731 immune-mediated thrombotic thrombocytopenic purpura GARD:4607 MONDO:equivalentTo Immune-mediated thrombotic thrombocytopenic purpura -MONDO:0867732 pyknoachondrogenesis GARD:4610 MONDO:equivalentTo Pyknoachondrogenesis -MONDO:0867733 pycnodysostosis GARD:4611 MONDO:equivalentTo Pycnodysostosis -MONDO:0867734 pyle disease GARD:4612 MONDO:equivalentTo Pyle disease -MONDO:0867735 pyomyositis GARD:4614 MONDO:equivalentTo Pyomyositis -MONDO:0867736 pyruvate dehydrogenase e1-alpha deficiency GARD:4620 MONDO:equivalentTo Pyruvate dehydrogenase E1-alpha deficiency -MONDO:0867737 radial ray hypoplasia-choanal atresia syndrome GARD:4627 MONDO:equivalentTo Radial ray hypoplasia-choanal atresia syndrome -MONDO:0867738 oculofaciocardiodental syndrome GARD:4628 MONDO:equivalentTo Oculofaciocardiodental syndrome -MONDO:0867739 absent radius-anogenital anomalies syndrome GARD:4633 MONDO:equivalentTo Absent radius-anogenital anomalies syndrome -MONDO:0867740 leukocyte adhesion deficiency type ii GARD:4634 MONDO:equivalentTo Leukocyte adhesion deficiency type II -MONDO:0867741 retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome GARD:4635 MONDO:equivalentTo Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome -MONDO:0867742 ramos-arroyo syndrome GARD:4636 MONDO:equivalentTo Ramos-Arroyo syndrome -MONDO:0867743 rapadilino syndrome GARD:4637 MONDO:equivalentTo RAPADILINO syndrome -MONDO:0867744 external auditory canal atresia-vertical talus-hypertelorism syndrome GARD:4638 MONDO:equivalentTo External auditory canal atresia-vertical talus-hypertelorism syndrome -MONDO:0867745 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome GARD:4641 MONDO:equivalentTo Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome -MONDO:0867746 ataxia-deafness-intellectual disability syndrome GARD:4644 MONDO:equivalentTo Ataxia-deafness-intellectual disability syndrome -MONDO:0867747 complex regional pain syndrome GARD:4647 MONDO:equivalentTo Complex regional pain syndrome -MONDO:0867748 infantile refsum disease GARD:4648 MONDO:equivalentTo Infantile Refsum disease -MONDO:0867749 isovaleric acidemia GARD:465 MONDO:equivalentTo Isovaleric acidemia -MONDO:0867750 renal caliceal diverticuli-deafness syndrome GARD:4655 MONDO:equivalentTo Renal caliceal diverticuli-deafness syndrome -MONDO:0867751 nphp3-related meckel-like syndrome GARD:4665 MONDO:equivalentTo NPHP3-related Meckel-like syndrome -MONDO:0867752 autosomal recessive distal renal tubular acidosis GARD:4666 MONDO:equivalentTo Autosomal recessive distal renal tubular acidosis -MONDO:0867753 distal renal tubular acidosis GARD:4667 MONDO:equivalentTo Distal renal tubular acidosis -MONDO:0867754 autosomal dominant distal renal tubular acidosis GARD:4668 MONDO:equivalentTo Autosomal dominant distal renal tubular acidosis -MONDO:0867755 propionic acidemia GARD:467 MONDO:equivalentTo Propionic acidemia -MONDO:0867756 x-linked retinal dysplasia GARD:4680 MONDO:equivalentTo X-linked retinal dysplasia -MONDO:0867757 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome GARD:4683 MONDO:equivalentTo Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome -MONDO:0867758 pyramidal molars-abnormal upper lip syndrome GARD:469 MONDO:equivalentTo Pyramidal molars-abnormal upper lip syndrome -MONDO:0867759 x-linked retinoschisis GARD:4690 MONDO:equivalentTo X-linked retinoschisis -MONDO:0867760 atypical rett syndrome GARD:4694 MONDO:equivalentTo Atypical Rett syndrome -MONDO:0867761 revesz syndrome GARD:4695 MONDO:equivalentTo Revesz syndrome -MONDO:0867762 reynolds syndrome GARD:4697 MONDO:equivalentTo Reynolds syndrome -MONDO:0867763 crigler-najjar syndrome type 1 GARD:47 MONDO:equivalentTo Crigler-Najjar syndrome type 1 -MONDO:0867764 alveolar rhabdomyosarcoma GARD:4701 MONDO:equivalentTo Alveolar rhabdomyosarcoma -MONDO:0867765 embryonal rhabdomyosarcoma GARD:4702 MONDO:equivalentTo Embryonal rhabdomyosarcoma -MONDO:0867766 rhizomelic dysplasia, patterson-lowry type GARD:4703 MONDO:equivalentTo Rhizomelic dysplasia, Patterson-Lowry type -MONDO:0867767 polymyalgia rheumatica GARD:4704 MONDO:equivalentTo Polymyalgia rheumatica -MONDO:0867768 rhizomelic syndrome, urbach type GARD:4705 MONDO:equivalentTo Rhizomelic syndrome, Urbach type -MONDO:0867769 richieri costa-da silva syndrome GARD:4709 MONDO:equivalentTo Richieri Costa-da Silva syndrome -MONDO:0867770 richieri costa-pereira syndrome GARD:4718 MONDO:equivalentTo Richieri Costa-Pereira syndrome -MONDO:0867771 isolated right ventricular hypoplasia GARD:4721 MONDO:equivalentTo Isolated right ventricular hypoplasia -MONDO:0867772 8q22.1 microdeletion syndrome GARD:4722 MONDO:equivalentTo 8q22.1 microdeletion syndrome -MONDO:0867773 rigid spine syndrome GARD:4723 MONDO:equivalentTo Rigid spine syndrome -MONDO:0867774 ring chromosome 17 syndrome GARD:4724 MONDO:equivalentTo Ring chromosome 17 syndrome -MONDO:0867775 robin sequence-oligodactyly syndrome GARD:4729 MONDO:equivalentTo Robin sequence-oligodactyly syndrome -MONDO:0867776 autosomal dominant deafness-onychodystrophy syndrome GARD:4732 MONDO:equivalentTo Autosomal dominant deafness-onychodystrophy syndrome -MONDO:0867777 roch-leri mesosomatous lipomatosis GARD:4733 MONDO:equivalentTo Roch-Leri mesosomatous lipomatosis -MONDO:0867778 mayer-rokitansky-küster-hauser syndrome type 1 GARD:4737 MONDO:equivalentTo Mayer-Rokitansky-Küster-Hauser syndrome type 1 -MONDO:0867779 rombo syndrome GARD:4738 MONDO:equivalentTo Rombo syndrome -MONDO:0867780 ulna metaphyseal dysplasia syndrome GARD:4740 MONDO:equivalentTo Ulna metaphyseal dysplasia syndrome -MONDO:0867781 roussy-lévy syndrome GARD:4741 MONDO:equivalentTo Roussy-Lévy syndrome -MONDO:0867782 congenital rubella syndrome GARD:4744 MONDO:equivalentTo Congenital rubella syndrome -MONDO:0867783 ruvalcaba syndrome GARD:4748 MONDO:equivalentTo Ruvalcaba syndrome -MONDO:0867784 acquired prothrombin deficiency GARD:475 MONDO:equivalentTo Acquired prothrombin deficiency -MONDO:0867785 kousseff syndrome GARD:4752 MONDO:equivalentTo Kousseff syndrome -MONDO:0867786 salla disease GARD:4754 MONDO:equivalentTo Salla disease -MONDO:0867787 acquired ichthyosis GARD:476 MONDO:equivalentTo Acquired ichthyosis -MONDO:0867788 benign schwannoma GARD:4767 MONDO:equivalentTo Benign schwannoma -MONDO:0867789 schwannomatosis GARD:4768 MONDO:equivalentTo Schwannomatosis -MONDO:0867790 congenital muscular dystrophy, ullrich type GARD:4769 MONDO:equivalentTo Congenital muscular dystrophy, Ullrich type -MONDO:0867791 sclerosteosis GARD:4771 MONDO:equivalentTo Sclerosteosis -MONDO:0867792 succinyl-coa:3-oxoacid coa transferase deficiency GARD:4774 MONDO:equivalentTo Succinyl-CoA:3-oxoacid CoA transferase deficiency -MONDO:0867793 aarskog-scott syndrome GARD:4775 MONDO:equivalentTo Aarskog-Scott syndrome -MONDO:0867794 craniodigital-intellectual disability syndrome GARD:4776 MONDO:equivalentTo Craniodigital-intellectual disability syndrome -MONDO:0867795 scott syndrome GARD:4777 MONDO:equivalentTo Scott syndrome -MONDO:0867796 facial dysmorphism-shawl scrotum-joint laxity syndrome GARD:4778 MONDO:equivalentTo Facial dysmorphism-shawl scrotum-joint laxity syndrome -MONDO:0867797 testicular seminomatous germ cell tumor GARD:4792 MONDO:equivalentTo Testicular seminomatous germ cell tumor -MONDO:0867798 isolated cytochrome c oxidase deficiency GARD:48 MONDO:equivalentTo Isolated cytochrome C oxidase deficiency -MONDO:0867799 acro-renal-mandibular syndrome GARD:480 MONDO:equivalentTo Acro-renal-mandibular syndrome -MONDO:0867800 spontaneous periodic hypothermia GARD:4815 MONDO:equivalentTo Spontaneous periodic hypothermia -MONDO:0867801 shigellosis GARD:4818 MONDO:equivalentTo Shigellosis -MONDO:0867802 short chain acyl-coa dehydrogenase deficiency GARD:4822 MONDO:equivalentTo Short chain acyl-CoA dehydrogenase deficiency -MONDO:0867803 short rib-polydactyly syndrome, beemer-langer type GARD:4832 MONDO:equivalentTo Short rib-polydactyly syndrome, Beemer-Langer type -MONDO:0867804 short rib-polydactyly syndrome, majewski type GARD:4833 MONDO:equivalentTo Short rib-polydactyly syndrome, Majewski type -MONDO:0867805 short rib-polydactyly syndrome, saldino-noonan type GARD:4834 MONDO:equivalentTo Short rib-polydactyly syndrome, Saldino-Noonan type -MONDO:0867806 short rib-polydactyly syndrome, verma-naumoff type GARD:4835 MONDO:equivalentTo Short rib-polydactyly syndrome, Verma-Naumoff type -MONDO:0867807 short stature, brussels type GARD:4838 MONDO:equivalentTo Short stature, Brussels type -MONDO:0867808 acrofrontofacionasal dysostosis GARD:484 MONDO:equivalentTo Acrofrontofacionasal dysostosis -MONDO:0867809 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome GARD:4841 MONDO:equivalentTo Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome -MONDO:0867810 short stature-wormian bones-dextrocardia syndrome GARD:4856 MONDO:equivalentTo Short stature-wormian bones-dextrocardia syndrome -MONDO:0867811 shprintzen-goldberg syndrome GARD:4861 MONDO:equivalentTo Shprintzen-Goldberg syndrome -MONDO:0867812 shwachman-diamond syndrome GARD:4863 MONDO:equivalentTo Shwachman-Diamond syndrome -MONDO:0867813 sialuria GARD:4865 MONDO:equivalentTo Sialuria -MONDO:0867814 siegler-brewer-carey syndrome GARD:4867 MONDO:equivalentTo Siegler-Brewer-Carey syndrome -MONDO:0867815 sillence syndrome GARD:4869 MONDO:equivalentTo Sillence syndrome -MONDO:0867816 silver-russell syndrome GARD:4870 MONDO:equivalentTo Silver-Russell syndrome -MONDO:0867817 flat face-microstomia-ear anomaly syndrome GARD:4873 MONDO:equivalentTo Flat face-microstomia-ear anomaly syndrome -MONDO:0867818 multiple endocrine neoplasia type 2a GARD:4881 MONDO:equivalentTo Multiple endocrine neoplasia type 2A -MONDO:0867819 situs inversus totalis GARD:4883 MONDO:equivalentTo Situs inversus totalis -MONDO:0867820 mononen-karnes-senac syndrome GARD:4886 MONDO:equivalentTo Mononen-Karnes-Senac syndrome -MONDO:0867821 leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome GARD:4891 MONDO:equivalentTo Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome -MONDO:0867822 soft tissue sarcoma GARD:4898 MONDO:equivalentTo Soft tissue sarcoma -MONDO:0867823 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome GARD:4899 MONDO:equivalentTo Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome -MONDO:0867824 de barsy syndrome GARD:49 MONDO:equivalentTo De Barsy syndrome -MONDO:0867825 somatostatinoma GARD:4900 MONDO:equivalentTo Somatostatinoma -MONDO:0867826 congenital heart defect-round face-developmental delay syndrome GARD:4905 MONDO:equivalentTo Congenital heart defect-round face-developmental delay syndrome -MONDO:0867827 acrodysplasia scoliosis GARD:491 MONDO:equivalentTo Acrodysplasia scoliosis -MONDO:0867828 autosomal recessive spastic ataxia of charlevoix-saguenay GARD:4910 MONDO:equivalentTo Autosomal recessive spastic ataxia of Charlevoix-Saguenay -MONDO:0867829 infantile-onset ascending hereditary spastic paralysis GARD:4914 MONDO:equivalentTo Infantile-onset ascending hereditary spastic paralysis -MONDO:0867830 spastic paraplegia-precocious puberty syndrome GARD:4918 MONDO:equivalentTo Spastic paraplegia-precocious puberty syndrome -MONDO:0867831 autosomal recessive spastic paraplegia type 11 GARD:4919 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 11 -MONDO:0867832 spastic paraplegia-neuropathy-poikiloderma syndrome GARD:4921 MONDO:equivalentTo Spastic paraplegia-neuropathy-poikiloderma syndrome -MONDO:0867833 autosomal recessive spastic paraplegia type 18 GARD:4922 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 18 -MONDO:0867834 spastic paraplegia type 2 GARD:4923 MONDO:equivalentTo Spastic paraplegia type 2 -MONDO:0867835 autosomal recessive spastic paraplegia type 39 GARD:4924 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 39 -MONDO:0867836 autosomal dominant spastic paraplegia type 4 GARD:4925 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 4 -MONDO:0867837 autosomal recessive spastic paraplegia type 5a GARD:4926 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 5A -MONDO:0867838 spastic paraplegia type 7 GARD:4927 MONDO:equivalentTo Spastic paraplegia type 7 -MONDO:0867839 autosomal dominant spastic paraplegia type 6 GARD:4928 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 6 -MONDO:0867840 spastic paraplegia-glaucoma-intellectual disability syndrome GARD:4931 MONDO:equivalentTo Spastic paraplegia-glaucoma-intellectual disability syndrome -MONDO:0867841 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome GARD:4932 MONDO:equivalentTo Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome -MONDO:0867842 weill-marchesani syndrome GARD:4936 MONDO:equivalentTo Weill-Marchesani syndrome -MONDO:0867843 juvenile neuronal ceroid lipofuscinosis GARD:4938 MONDO:equivalentTo Juvenile neuronal ceroid lipofuscinosis -MONDO:0867844 acrofacial dysostosis, catania type GARD:494 MONDO:equivalentTo Acrofacial dysostosis, Catania type -MONDO:0867845 spina bifida-hypospadias syndrome GARD:4940 MONDO:equivalentTo Spina bifida-hypospadias syndrome -MONDO:0867846 spinal atrophy-ophthalmoplegia-pyramidal syndrome GARD:4942 MONDO:equivalentTo Spinal atrophy-ophthalmoplegia-pyramidal syndrome -MONDO:0867847 proximal spinal muscular atrophy type 2 GARD:4945 MONDO:equivalentTo Proximal spinal muscular atrophy type 2 -MONDO:0867848 spinocerebellar ataxia type 30 GARD:4950 MONDO:equivalentTo Spinocerebellar ataxia type 30 -MONDO:0867849 autosomal recessive cerebellar ataxia-movement disorder syndrome GARD:4952 MONDO:equivalentTo Autosomal recessive cerebellar ataxia-movement disorder syndrome -MONDO:0867850 spinocerebellar ataxia type 5 GARD:4953 MONDO:equivalentTo Spinocerebellar ataxia type 5 -MONDO:0867851 infantile-onset autosomal recessive nonprogressive cerebellar ataxia GARD:4954 MONDO:equivalentTo Infantile-onset autosomal recessive nonprogressive cerebellar ataxia -MONDO:0867852 spinocerebellar ataxia type 7 GARD:4955 MONDO:equivalentTo Spinocerebellar ataxia type 7 -MONDO:0867853 spinocerebellar ataxia type 8 GARD:4956 MONDO:equivalentTo Spinocerebellar ataxia type 8 -MONDO:0867854 spinocerebellar ataxia-dysmorphism syndrome GARD:4958 MONDO:equivalentTo Spinocerebellar ataxia-dysmorphism syndrome -MONDO:0867855 acrofacial dysostosis, rodríguez type GARD:496 MONDO:equivalentTo Acrofacial dysostosis, Rodríguez type -MONDO:0867856 splenogonadal fusion-limb defects-micrognathia syndrome GARD:4963 MONDO:equivalentTo Splenogonadal fusion-limb defects-micrognathia syndrome -MONDO:0867857 karsch-neugebauer syndrome GARD:4967 MONDO:equivalentTo Karsch-Neugebauer syndrome -MONDO:0867858 czeizel-losonci syndrome GARD:4969 MONDO:equivalentTo Czeizel-Losonci syndrome -MONDO:0867859 acrofacial dysostosis, weyers type GARD:497 MONDO:equivalentTo Acrofacial dysostosis, Weyers type -MONDO:0867860 sponastrime dysplasia GARD:4970 MONDO:equivalentTo SPONASTRIME dysplasia -MONDO:0867861 spondylocamptodactyly syndrome GARD:4972 MONDO:equivalentTo Spondylocamptodactyly syndrome -MONDO:0867862 spondylocarpotarsal synostosis GARD:4974 MONDO:equivalentTo Spondylocarpotarsal synostosis -MONDO:0867863 spondyloenchondrodysplasia GARD:4978 MONDO:equivalentTo Spondyloenchondrodysplasia -MONDO:0867864 x-linked spondyloepimetaphyseal dysplasia GARD:4979 MONDO:equivalentTo X-linked spondyloepimetaphyseal dysplasia -MONDO:0867865 nager syndrome GARD:498 MONDO:equivalentTo Nager syndrome -MONDO:0867866 spondyloepimetaphyseal dysplasia, shohat type GARD:4980 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, Shohat type -MONDO:0867867 spondyloepimetaphyseal dysplasia with joint laxity GARD:4982 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia with joint laxity -MONDO:0867868 schimke immuno-osseous dysplasia GARD:4984 MONDO:equivalentTo Schimke immuno-osseous dysplasia -MONDO:0867869 spondyloepiphyseal dysplasia congenita GARD:4987 MONDO:equivalentTo Spondyloepiphyseal dysplasia congenita -MONDO:0867870 acrofacial dysostosis, palagonia type GARD:499 MONDO:equivalentTo Acrofacial dysostosis, Palagonia type -MONDO:0867871 spondylometaphyseal dysplasia, 'corner fracture' type GARD:4991 MONDO:equivalentTo Spondylometaphyseal dysplasia, 'corner fracture' type -MONDO:0867872 spondylometaphyseal dysplasia, sedaghatian type GARD:4993 MONDO:equivalentTo Spondylometaphyseal dysplasia, Sedaghatian type -MONDO:0867873 spondyloperipheral dysplasia-short ulna syndrome GARD:4994 MONDO:equivalentTo Spondyloperipheral dysplasia-short ulna syndrome -MONDO:0867874 familial spontaneous pneumothorax GARD:4997 MONDO:equivalentTo Familial spontaneous pneumothorax -MONDO:0867875 abetalipoproteinemia GARD:5 MONDO:equivalentTo Abetalipoproteinemia -MONDO:0867876 sebocystomatosis GARD:5003 MONDO:equivalentTo Sebocystomatosis -MONDO:0867877 steatocystoma multiplex-natal teeth syndrome GARD:5004 MONDO:equivalentTo Steatocystoma multiplex-natal teeth syndrome -MONDO:0867878 sternal cleft GARD:5012 MONDO:equivalentTo Sternal cleft -MONDO:0867879 steroid dehydrogenase deficiency-dental anomalies syndrome GARD:5015 MONDO:equivalentTo Steroid dehydrogenase deficiency-dental anomalies syndrome -MONDO:0867880 stickler syndrome type 1 GARD:5018 MONDO:equivalentTo Stickler syndrome type 1 -MONDO:0867881 stickler syndrome type 2 GARD:5020 MONDO:equivalentTo Stickler syndrome type 2 -MONDO:0867882 autosomal dominant otospondylomegaepiphyseal dysplasia GARD:5021 MONDO:equivalentTo Autosomal dominant otospondylomegaepiphyseal dysplasia -MONDO:0867883 stiff person spectrum disorder GARD:5023 MONDO:equivalentTo Stiff person spectrum disorder -MONDO:0867884 stiff skin syndrome GARD:5025 MONDO:equivalentTo Stiff skin syndrome -MONDO:0867885 stimmler syndrome GARD:5026 MONDO:equivalentTo Stimmler syndrome -MONDO:0867886 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome GARD:5027 MONDO:equivalentTo Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome -MONDO:0867887 arthrogryposis-ectodermal dysplasia syndrome GARD:5029 MONDO:equivalentTo Arthrogryposis-ectodermal dysplasia syndrome -MONDO:0867888 alpha delta granule deficiency GARD:5034 MONDO:equivalentTo Alpha delta granule deficiency -MONDO:0867889 brachydactyly-mesomelia-intellectual disability-heart defects syndrome GARD:5036 MONDO:equivalentTo Brachydactyly-mesomelia-intellectual disability-heart defects syndrome -MONDO:0867890 spondylometaphyseal dysplasia, schmidt type GARD:504 MONDO:equivalentTo Spondylometaphyseal dysplasia, Schmidt type -MONDO:0867891 infantile bilateral striatal necrosis GARD:5040 MONDO:equivalentTo Infantile bilateral striatal necrosis -MONDO:0867892 autosomal dominant spastic paraplegia type 3 GARD:5041 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 3 -MONDO:0867893 stüve-wiedemann syndrome GARD:5045 MONDO:equivalentTo Stüve-Wiedemann syndrome -MONDO:0867894 classic lissencephaly GARD:5049 MONDO:equivalentTo Classic lissencephaly -MONDO:0867895 subependymal nodular heterotopia GARD:5050 MONDO:equivalentTo Subependymal nodular heterotopia -MONDO:0867896 subpulmonary stenosis GARD:5051 MONDO:equivalentTo Subpulmonary stenosis -MONDO:0867897 isolated succinate-coq reductase deficiency GARD:5053 MONDO:equivalentTo Isolated succinate-CoQ reductase deficiency -MONDO:0867898 sugarman brachydactyly GARD:5058 MONDO:equivalentTo Sugarman brachydactyly -MONDO:0867899 acromesomelic dysplasia, hunter-thompson type GARD:506 MONDO:equivalentTo Acromesomelic dysplasia, Hunter-Thompson type -MONDO:0867900 multiple sulfatase deficiency GARD:5061 MONDO:equivalentTo Multiple sulfatase deficiency -MONDO:0867901 isolated sulfite oxidase deficiency GARD:5062 MONDO:equivalentTo Isolated sulfite oxidase deficiency -MONDO:0867902 microphthalmia-ankyloblepharon-intellectual disability syndrome GARD:5066 MONDO:equivalentTo Microphthalmia-ankyloblepharon-intellectual disability syndrome -MONDO:0867903 46,xy complete gonadal dysgenesis GARD:5068 MONDO:equivalentTo 46,XY complete gonadal dysgenesis -MONDO:0867904 acromesomelic dysplasia, maroteaux type GARD:507 MONDO:equivalentTo Acromesomelic dysplasia, Maroteaux type -MONDO:0867905 symmetrical thalamic calcifications GARD:5070 MONDO:equivalentTo Symmetrical thalamic calcifications -MONDO:0867906 distal symphalangism GARD:5074 MONDO:equivalentTo Distal symphalangism -MONDO:0867907 symphalangism with multiple anomalies of hands and feet GARD:5077 MONDO:equivalentTo Symphalangism with multiple anomalies of hands and feet -MONDO:0867908 hajdu-cheney syndrome GARD:508 MONDO:equivalentTo Hajdu-Cheney syndrome -MONDO:0867909 syndactyly type 1 GARD:5081 MONDO:equivalentTo Syndactyly type 1 -MONDO:0867910 cenani-lenz syndrome GARD:5084 MONDO:equivalentTo Cenani-Lenz syndrome -MONDO:0867911 syndactyly type 2 GARD:5087 MONDO:equivalentTo Syndactyly type 2 -MONDO:0867912 syndactyly type 3 GARD:5088 MONDO:equivalentTo Syndactyly type 3 -MONDO:0867913 syndactyly type 5 GARD:5089 MONDO:equivalentTo Syndactyly type 5 -MONDO:0867914 syndactyly-polydactyly-ear lobe syndrome GARD:5090 MONDO:equivalentTo Syndactyly-polydactyly-ear lobe syndrome -MONDO:0867915 syngnathia-cleft palate syndrome GARD:5091 MONDO:equivalentTo Syngnathia-cleft palate syndrome -MONDO:0867916 dobrow syndrome GARD:5092 MONDO:equivalentTo Dobrow syndrome -MONDO:0867917 syringocystadenoma papilliferum GARD:5100 MONDO:equivalentTo Syringocystadenoma papilliferum -MONDO:0867918 systemic primary carnitine deficiency GARD:5104 MONDO:equivalentTo Systemic primary carnitine deficiency -MONDO:0867919 thrombocytopenia-absent radius syndrome GARD:5116 MONDO:equivalentTo Thrombocytopenia-absent radius syndrome -MONDO:0867920 acropectorovertebral dysplasia GARD:512 MONDO:equivalentTo Acropectorovertebral dysplasia -MONDO:0867921 microcephalic osteodysplastic primordial dwarfism types i and iii GARD:5120 MONDO:equivalentTo Microcephalic osteodysplastic primordial dwarfism types I and III -MONDO:0867922 otopalatodigital syndrome type 1 GARD:5121 MONDO:equivalentTo Otopalatodigital syndrome type 1 -MONDO:0867923 anonychia-microcephaly syndrome GARD:5123 MONDO:equivalentTo Anonychia-microcephaly syndrome -MONDO:0867924 autosomal recessive faciodigitogenital syndrome GARD:5124 MONDO:equivalentTo Autosomal recessive faciodigitogenital syndrome -MONDO:0867925 teebi-shaltout syndrome GARD:5125 MONDO:equivalentTo Teebi-Shaltout syndrome -MONDO:0867926 trigonocephaly-bifid nose-acral anomalies syndrome GARD:5126 MONDO:equivalentTo Trigonocephaly-bifid nose-acral anomalies syndrome -MONDO:0867927 tel hashomer camptodactyly syndrome GARD:5128 MONDO:equivalentTo Tel Hashomer camptodactyly syndrome -MONDO:0867928 piebald trait-neurologic defects syndrome GARD:5133 MONDO:equivalentTo Piebald trait-neurologic defects syndrome -MONDO:0867929 familial temporal lobe epilepsy GARD:5135 MONDO:equivalentTo Familial temporal lobe epilepsy -MONDO:0867930 frank-ter haar syndrome GARD:5138 MONDO:equivalentTo Frank-Ter Haar syndrome -MONDO:0867931 acrorenal syndrome GARD:514 MONDO:equivalentTo Acrorenal syndrome -MONDO:0867932 embryonal carcinoma GARD:5140 MONDO:equivalentTo Embryonal carcinoma -MONDO:0867933 tetanus GARD:5144 MONDO:equivalentTo Tetanus -MONDO:0867934 tetra-amelia GARD:5148 MONDO:equivalentTo Tetra-amelia -MONDO:0867935 tetraploidy GARD:5151 MONDO:equivalentTo Tetraploidy -MONDO:0867936 inverted duplicated chromosome 15 syndrome GARD:5153 MONDO:equivalentTo Inverted duplicated chromosome 15 syndrome -MONDO:0867937 thakker-donnai syndrome GARD:5158 MONDO:equivalentTo Thakker-Donnai syndrome -MONDO:0867938 progressive deafness with stapes fixation GARD:5170 MONDO:equivalentTo Progressive deafness with stapes fixation -MONDO:0867939 thomas syndrome GARD:5175 MONDO:equivalentTo Thomas syndrome -MONDO:0867940 x-linked thrombocytopenia with normal platelets GARD:5176 MONDO:equivalentTo X-linked thrombocytopenia with normal platelets -MONDO:0867941 hepatic fibrosis-renal cysts-intellectual disability syndrome GARD:5177 MONDO:equivalentTo Hepatic fibrosis-renal cysts-intellectual disability syndrome -MONDO:0867942 thoracic dysplasia-hydrocephalus syndrome GARD:5180 MONDO:equivalentTo Thoracic dysplasia-hydrocephalus syndrome -MONDO:0867943 thoraco-abdominal enteric duplication GARD:5181 MONDO:equivalentTo Thoraco-abdominal enteric duplication -MONDO:0867944 thoracolaryngopelvic dysplasia GARD:5184 MONDO:equivalentTo Thoracolaryngopelvic dysplasia -MONDO:0867945 krt1-related diffuse nonepidermolytic keratoderma GARD:5186 MONDO:equivalentTo KRT1-related diffuse nonepidermolytic keratoderma -MONDO:0867946 stormorken-sjaastad-langslet syndrome GARD:5188 MONDO:equivalentTo Stormorken-Sjaastad-Langslet syndrome -MONDO:0867947 idiopathic acute eosinophilic pneumonia GARD:519 MONDO:equivalentTo Idiopathic acute eosinophilic pneumonia -MONDO:0867948 immune thrombocytopenia GARD:5194 MONDO:equivalentTo Immune thrombocytopenia -MONDO:0867949 familial thrombomodulin anomalies GARD:5195 MONDO:equivalentTo Familial thrombomodulin anomalies -MONDO:0867950 thumb deformity-alopecia-pigmentation anomaly syndrome GARD:5199 MONDO:equivalentTo Thumb deformity-alopecia-pigmentation anomaly syndrome -MONDO:0867951 thymic epithelial neoplasm GARD:5201 MONDO:equivalentTo Thymic epithelial neoplasm -MONDO:0867952 thymic-renal-anal-lung dysplasia GARD:5202 MONDO:equivalentTo Thymic-renal-anal-lung dysplasia -MONDO:0867953 familial thyroglossal duct cyst GARD:5204 MONDO:equivalentTo Familial thyroglossal duct cyst -MONDO:0867954 sweet syndrome GARD:521 MONDO:equivalentTo Sweet syndrome -MONDO:0867955 absent tibia-polydactyly-arachnoid cyst syndrome GARD:5210 MONDO:equivalentTo Absent tibia-polydactyly-arachnoid cyst syndrome -MONDO:0867956 tick-borne encephalitis GARD:5216 MONDO:equivalentTo Tick-borne encephalitis -MONDO:0867957 acute lymphoblastic leukemia GARD:522 MONDO:equivalentTo Acute lymphoblastic leukemia -MONDO:0867958 hereditary neuropathy with liability to pressure palsies GARD:5221 MONDO:equivalentTo Hereditary neuropathy with liability to pressure palsies -MONDO:0867959 toriello-carey syndrome GARD:5225 MONDO:equivalentTo Toriello-Carey syndrome -MONDO:0867960 torticollis-keloids-cryptorchidism-renal dysplasia syndrome GARD:5230 MONDO:equivalentTo Torticollis-keloids-cryptorchidism-renal dysplasia syndrome -MONDO:0867961 skin fragility-woolly hair-palmoplantar keratoderma syndrome GARD:5231 MONDO:equivalentTo Skin fragility-woolly hair-palmoplantar keratoderma syndrome -MONDO:0867962 weismann-netter syndrome GARD:5232 MONDO:equivalentTo Weismann-Netter syndrome -MONDO:0867963 tracheal agenesis GARD:5233 MONDO:equivalentTo Tracheal agenesis -MONDO:0867964 tracheobronchopathia osteochondroplastica GARD:5235 MONDO:equivalentTo Tracheobronchopathia osteochondroplastica -MONDO:0867965 hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome GARD:5237 MONDO:equivalentTo Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome -MONDO:0867966 x-linked intellectual disability-seizures-psoriasis syndrome GARD:5238 MONDO:equivalentTo X-linked intellectual disability-seizures-psoriasis syndrome -MONDO:0867967 acute megakaryoblastic leukemia GARD:524 MONDO:equivalentTo Acute megakaryoblastic leukemia -MONDO:0867968 autosomal dominant optic atrophy plus syndrome GARD:5243 MONDO:equivalentTo Autosomal dominant optic atrophy plus syndrome -MONDO:0867969 acute monoblastic/monocytic leukemia GARD:525 MONDO:equivalentTo Acute monoblastic/monocytic leukemia -MONDO:0867970 trichinellosis GARD:5250 MONDO:equivalentTo Trichinellosis -MONDO:0867971 syndromic diarrhea GARD:5258 MONDO:equivalentTo Syndromic diarrhea -MONDO:0867972 acute myeloblastic leukemia without maturation GARD:526 MONDO:equivalentTo Acute myeloblastic leukemia without maturation -MONDO:0867973 trichodysplasia-xeroderma syndrome GARD:5261 MONDO:equivalentTo Trichodysplasia-xeroderma syndrome -MONDO:0867974 trichofolliculoma GARD:5263 MONDO:equivalentTo Trichofolliculoma -MONDO:0867975 trichomegaly-retina pigmentary degeneration-dwarfism syndrome GARD:5266 MONDO:equivalentTo Trichomegaly-retina pigmentary degeneration-dwarfism syndrome -MONDO:0867976 trichoodontoonychial dysplasia GARD:5267 MONDO:equivalentTo Trichoodontoonychial dysplasia -MONDO:0867977 acute myeloblastic leukemia with maturation GARD:527 MONDO:equivalentTo Acute myeloblastic leukemia with maturation -MONDO:0867978 tricuspid atresia GARD:5274 MONDO:equivalentTo Tricuspid atresia -MONDO:0867979 baraitser-winter cerebrofrontofacial syndrome GARD:5279 MONDO:equivalentTo Baraitser-Winter cerebrofrontofacial syndrome -MONDO:0867980 triopia GARD:5286 MONDO:equivalentTo Triopia -MONDO:0867981 triose phosphate-isomerase deficiency GARD:5287 MONDO:equivalentTo Triose phosphate-isomerase deficiency -MONDO:0867982 polydactyly of a triphalangeal thumb GARD:5289 MONDO:equivalentTo Polydactyly of a triphalangeal thumb -MONDO:0867983 acute myelomonocytic leukemia GARD:529 MONDO:equivalentTo Acute myelomonocytic leukemia -MONDO:0867984 triphalangeal thumbs-brachyectrodactyly syndrome GARD:5290 MONDO:equivalentTo Triphalangeal thumbs-brachyectrodactyly syndrome -MONDO:0867985 triploidy GARD:5295 MONDO:equivalentTo Triploidy -MONDO:0867986 trisomy 10p GARD:5299 MONDO:equivalentTo Trisomy 10p -MONDO:0867987 mosaic trisomy 12 GARD:5304 MONDO:equivalentTo Mosaic trisomy 12 -MONDO:0867988 trisomy 12p GARD:5305 MONDO:equivalentTo Trisomy 12p -MONDO:0867989 mosaic trisomy 15 GARD:5313 MONDO:equivalentTo Mosaic trisomy 15 -MONDO:0867990 mosaic trisomy 17 GARD:5317 MONDO:equivalentTo Mosaic trisomy 17 -MONDO:0867991 trisomy 17p GARD:5318 MONDO:equivalentTo Trisomy 17p -MONDO:0867992 trisomy 18p GARD:5323 MONDO:equivalentTo Trisomy 18p -MONDO:0867993 mosaic trisomy 2 GARD:5331 MONDO:equivalentTo Mosaic trisomy 2 -MONDO:0867994 trisomy 20p GARD:5333 MONDO:equivalentTo Trisomy 20p -MONDO:0867995 mosaic trisomy 3 GARD:5342 MONDO:equivalentTo Mosaic trisomy 3 -MONDO:0867996 mosaic trisomy 7 GARD:5354 MONDO:equivalentTo Mosaic trisomy 7 -MONDO:0867997 mosaic trisomy 8 GARD:5359 MONDO:equivalentTo Mosaic trisomy 8 -MONDO:0867998 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) GARD:536 MONDO:equivalentTo Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) -MONDO:0867999 trisomy 8q GARD:5362 MONDO:equivalentTo Trisomy 8q -MONDO:0868000 autosomal recessive spastic paraplegia type 20 GARD:5372 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 20 -MONDO:0868001 acute promyelocytic leukemia GARD:538 MONDO:equivalentTo Acute promyelocytic leukemia -MONDO:0868002 transient tyrosinemia of the newborn GARD:5388 MONDO:equivalentTo Transient tyrosinemia of the newborn -MONDO:0868003 galactose epimerase deficiency GARD:5392 MONDO:equivalentTo Galactose epimerase deficiency -MONDO:0868004 uhl anomaly GARD:5393 MONDO:equivalentTo Uhl anomaly -MONDO:0868005 ulbright-hodes syndrome GARD:5394 MONDO:equivalentTo Ulbright-Hodes syndrome -MONDO:0868006 ulerythema ophryogenesis GARD:5395 MONDO:equivalentTo Ulerythema ophryogenesis -MONDO:0868007 ulna hypoplasia-intellectual disability syndrome GARD:5398 MONDO:equivalentTo Ulna hypoplasia-intellectual disability syndrome -MONDO:0868008 duodenal atresia GARD:54 MONDO:equivalentTo Duodenal atresia -MONDO:0868009 medium chain acyl-coa dehydrogenase deficiency GARD:540 MONDO:equivalentTo Medium chain acyl-CoA dehydrogenase deficiency -MONDO:0868010 ulnar hypoplasia-split foot syndrome GARD:5400 MONDO:equivalentTo Ulnar hypoplasia-split foot syndrome -MONDO:0868011 umbilical cord ulceration-intestinal atresia syndrome GARD:5403 MONDO:equivalentTo Umbilical cord ulceration-intestinal atresia syndrome -MONDO:0868012 uncombable hair syndrome GARD:5404 MONDO:equivalentTo Uncombable hair syndrome -MONDO:0868013 17q11 microdeletion syndrome GARD:5408 MONDO:equivalentTo 17q11 microdeletion syndrome -MONDO:0868014 kagami-ogata syndrome due to paternal uniparental disomy of chromosome 14 GARD:5409 MONDO:equivalentTo Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 -MONDO:0868015 upington disease GARD:5421 MONDO:equivalentTo Upington disease -MONDO:0868016 urachal cyst GARD:5425 MONDO:equivalentTo Urachal cyst -MONDO:0868017 urban-rogers-meyer syndrome GARD:5426 MONDO:equivalentTo Urban-Rogers-Meyer syndrome -MONDO:0868018 hereditary mucoepithelial dysplasia GARD:5427 MONDO:equivalentTo Hereditary mucoepithelial dysplasia -MONDO:0868019 hereditary orotic aciduria GARD:5429 MONDO:equivalentTo Hereditary orotic aciduria -MONDO:0868020 müllerian derivatives-lymphangiectasia-polydactyly syndrome GARD:5430 MONDO:equivalentTo Müllerian derivatives-lymphangiectasia-polydactyly syndrome -MONDO:0868021 usher syndrome type 1 GARD:5435 MONDO:equivalentTo Usher syndrome type 1 -MONDO:0868022 usher syndrome type 2 GARD:5440 MONDO:equivalentTo Usher syndrome type 2 -MONDO:0868023 usher syndrome type 3 GARD:5442 MONDO:equivalentTo Usher syndrome type 3 -MONDO:0868024 vacterl/vater association GARD:5443 MONDO:equivalentTo VACTERL/VATER association -MONDO:0868025 mayer-rokitansky-küster-hauser syndrome GARD:5445 MONDO:equivalentTo Mayer-Rokitansky-Küster-Hauser syndrome -MONDO:0868026 fetal valproate spectrum disorder GARD:5447 MONDO:equivalentTo Fetal valproate spectrum disorder -MONDO:0868027 van den bosch syndrome GARD:5453 MONDO:equivalentTo Van den Bosch syndrome -MONDO:0868028 cerebrofacioarticular syndrome GARD:5456 MONDO:equivalentTo Cerebrofacioarticular syndrome -MONDO:0868029 adenine phosphoribosyltransferase deficiency GARD:546 MONDO:equivalentTo Adenine phosphoribosyltransferase deficiency -MONDO:0868030 congenital bilateral absence of vas deferens GARD:5461 MONDO:equivalentTo Congenital bilateral absence of vas deferens -MONDO:0868031 vein of galen aneurysmal malformation GARD:5467 MONDO:equivalentTo Vein of Galen aneurysmal malformation -MONDO:0868032 velo-facial-skeletal syndrome GARD:5469 MONDO:equivalentTo Velo-facial-skeletal syndrome -MONDO:0868033 adenosine monophosphate deaminase deficiency GARD:547 MONDO:equivalentTo Adenosine monophosphate deaminase deficiency -MONDO:0868034 congenital velopharyngeal incompetence GARD:5470 MONDO:equivalentTo Congenital velopharyngeal incompetence -MONDO:0868035 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome GARD:5472 MONDO:equivalentTo Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome -MONDO:0868036 congenitally uncorrected transposition of the great arteries GARD:5476 MONDO:equivalentTo Congenitally uncorrected transposition of the great arteries -MONDO:0868037 brachyolmia-amelogenesis imperfecta syndrome GARD:5478 MONDO:equivalentTo Brachyolmia-amelogenesis imperfecta syndrome -MONDO:0868038 microspherophakia-metaphyseal dysplasia syndrome GARD:5481 MONDO:equivalentTo Microspherophakia-metaphyseal dysplasia syndrome -MONDO:0868039 verloove vanhorick-brubakk syndrome GARD:5482 MONDO:equivalentTo Verloove Vanhorick-Brubakk syndrome -MONDO:0868040 inflammatory linear verrucous epidermal nevus GARD:5484 MONDO:equivalentTo Inflammatory linear verrucous epidermal nevus -MONDO:0868041 acanthokeratolytic verrucous nevus GARD:5485 MONDO:equivalentTo Acanthokeratolytic verrucous nevus -MONDO:0868042 congenital vertical talus GARD:5488 MONDO:equivalentTo Congenital vertical talus -MONDO:0868043 microcephaly-brachydactyly-kyphoscoliosis syndrome GARD:5490 MONDO:equivalentTo Microcephaly-brachydactyly-kyphoscoliosis syndrome -MONDO:0868044 viral hemorrhagic fever GARD:5494 MONDO:equivalentTo Viral hemorrhagic fever -MONDO:0868045 malignant sertoli-leydig cell tumor of the ovary GARD:5495 MONDO:equivalentTo Malignant Sertoli-Leydig cell tumor of the ovary -MONDO:0868046 oculogastrointestinal muscular dystrophy GARD:5496 MONDO:equivalentTo Oculogastrointestinal muscular dystrophy -MONDO:0868047 adenylosuccinate lyase deficiency GARD:550 MONDO:equivalentTo Adenylosuccinate lyase deficiency -MONDO:0868048 vitamin b12-responsive methylmalonic acidemia type cbla GARD:5500 MONDO:equivalentTo Vitamin B12-responsive methylmalonic acidemia type cblA -MONDO:0868049 autosomal dominant vitreoretinochoroidopathy GARD:5507 MONDO:equivalentTo Autosomal dominant vitreoretinochoroidopathy -MONDO:0868050 very long chain acyl-coa dehydrogenase deficiency GARD:5508 MONDO:equivalentTo Very long chain acyl-CoA dehydrogenase deficiency -MONDO:0868051 laryngeal abductor paralysis GARD:5509 MONDO:equivalentTo Laryngeal abductor paralysis -MONDO:0868052 mayer-rokitansky-küster-hauser syndrome type 2 GARD:5513 MONDO:equivalentTo Mayer-Rokitansky-Küster-Hauser syndrome type 2 -MONDO:0868053 hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome GARD:5518 MONDO:equivalentTo Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome -MONDO:0868054 waardenburg syndrome type 1 GARD:5519 MONDO:equivalentTo Waardenburg syndrome type 1 -MONDO:0868055 waardenburg syndrome type 2 GARD:5520 MONDO:equivalentTo Waardenburg syndrome type 2 -MONDO:0868056 waardenburg syndrome type 3 GARD:5523 MONDO:equivalentTo Waardenburg syndrome type 3 -MONDO:0868057 waardenburg-shah syndrome GARD:5524 MONDO:equivalentTo Waardenburg-Shah syndrome -MONDO:0868058 waardenburg syndrome GARD:5525 MONDO:equivalentTo Waardenburg syndrome -MONDO:0868059 wagr syndrome GARD:5528 MONDO:equivalentTo WAGR syndrome -MONDO:0868060 aniridia-intellectual disability syndrome GARD:5530 MONDO:equivalentTo Aniridia-intellectual disability syndrome -MONDO:0868061 cleidorhizomelic syndrome GARD:5532 MONDO:equivalentTo Cleidorhizomelic syndrome -MONDO:0868062 micro syndrome GARD:5534 MONDO:equivalentTo Micro syndrome -MONDO:0868063 deaf blind hypopigmentation syndrome, yemenite type GARD:5535 MONDO:equivalentTo Deaf blind hypopigmentation syndrome, Yemenite type -MONDO:0868064 craniosynostosis, boston type GARD:5538 MONDO:equivalentTo Craniosynostosis, Boston type -MONDO:0868065 acromelic frontonasal dysplasia GARD:5539 MONDO:equivalentTo Acromelic frontonasal dysplasia -MONDO:0868066 weaver-williams syndrome GARD:5545 MONDO:equivalentTo Weaver-Williams syndrome -MONDO:0868067 x-linked adrenal hypoplasia congenita GARD:555 MONDO:equivalentTo X-linked adrenal hypoplasia congenita -MONDO:0868068 distal myopathy, welander type GARD:5552 MONDO:equivalentTo Distal myopathy, Welander type -MONDO:0868069 cataract-aberrant oral frenula-growth delay syndrome GARD:5554 MONDO:equivalentTo Cataract-aberrant oral frenula-growth delay syndrome -MONDO:0868070 spastic paraparesis-deafness syndrome GARD:5555 MONDO:equivalentTo Spastic paraparesis-deafness syndrome -MONDO:0868071 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome GARD:5560 MONDO:equivalentTo White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome -MONDO:0868072 osteopathia striata-pigmentary dermopathy-white forelock syndrome GARD:5562 MONDO:equivalentTo Osteopathia striata-pigmentary dermopathy-white forelock syndrome -MONDO:0868073 wiedemann-steiner syndrome GARD:5565 MONDO:equivalentTo Wiedemann-Steiner syndrome -MONDO:0868074 wildervanck syndrome GARD:5569 MONDO:equivalentTo Wildervanck syndrome -MONDO:0868075 acquired von willebrand syndrome GARD:5573 MONDO:equivalentTo Acquired von Willebrand syndrome -MONDO:0868076 prader-willi syndrome GARD:5575 MONDO:equivalentTo Prader-Willi syndrome -MONDO:0868077 denys-drash syndrome GARD:5576 MONDO:equivalentTo Denys-Drash syndrome -MONDO:0868078 wilson-turner syndrome GARD:5579 MONDO:equivalentTo Wilson-Turner syndrome -MONDO:0868079 adrenocortical carcinoma GARD:558 MONDO:equivalentTo Adrenocortical carcinoma -MONDO:0868080 curry-jones syndrome GARD:5584 MONDO:equivalentTo Curry-Jones syndrome -MONDO:0868081 hypodontia-dysplasia of nails syndrome GARD:5587 MONDO:equivalentTo Hypodontia-dysplasia of nails syndrome -MONDO:0868082 wolcott-rallison syndrome GARD:5589 MONDO:equivalentTo Wolcott-Rallison syndrome -MONDO:0868083 neonatal adrenoleukodystrophy GARD:559 MONDO:equivalentTo Neonatal adrenoleukodystrophy -MONDO:0868084 woodhouse-sakati syndrome GARD:5592 MONDO:equivalentTo Woodhouse-Sakati syndrome -MONDO:0868085 carvajal syndrome GARD:5595 MONDO:equivalentTo Carvajal syndrome -MONDO:0868086 woolly hair GARD:5597 MONDO:equivalentTo Woolly hair -MONDO:0868087 worster-drought syndrome GARD:5598 MONDO:equivalentTo Worster-Drought syndrome -MONDO:0868088 severe x-linked intellectual disability, gustavson type GARD:5611 MONDO:equivalentTo Severe X-linked intellectual disability, Gustavson type -MONDO:0868089 x-linked intellectual disability, snyder type GARD:5615 MONDO:equivalentTo X-linked intellectual disability, Snyder type -MONDO:0868090 allan-herndon-dudley syndrome GARD:5617 MONDO:equivalentTo Allan-Herndon-Dudley syndrome -MONDO:0868091 t-b+ severe combined immunodeficiency due to gamma chain deficiency GARD:5618 MONDO:equivalentTo T-B+ severe combined immunodeficiency due to gamma chain deficiency -MONDO:0868092 adrenomyodystrophy GARD:562 MONDO:equivalentTo Adrenomyodystrophy -MONDO:0868093 xanthinuria type ii GARD:5620 MONDO:equivalentTo Xanthinuria type II -MONDO:0868094 xanthinuria type i GARD:5621 MONDO:equivalentTo Xanthinuria type I -MONDO:0868095 cerebrotendinous xanthomatosis GARD:5622 MONDO:equivalentTo Cerebrotendinous xanthomatosis -MONDO:0868096 dehydrated hereditary stomatocytosis GARD:5623 MONDO:equivalentTo Dehydrated hereditary stomatocytosis -MONDO:0868097 xeroderma pigmentosum variant GARD:5630 MONDO:equivalentTo Xeroderma pigmentosum variant -MONDO:0868098 proximal spinal muscular atrophy type 4 GARD:564 MONDO:equivalentTo Proximal spinal muscular atrophy type 4 -MONDO:0868099 aase-smith syndrome GARD:5642 MONDO:equivalentTo Aase-Smith syndrome -MONDO:0868100 dentatorubral pallidoluysian atrophy GARD:5643 MONDO:equivalentTo Dentatorubral pallidoluysian atrophy -MONDO:0868101 photosensitive epilepsy GARD:5648 MONDO:equivalentTo Photosensitive epilepsy -MONDO:0868102 gliosarcoma GARD:5653 MONDO:equivalentTo Gliosarcoma -MONDO:0868103 alveolar soft tissue sarcoma GARD:5654 MONDO:equivalentTo Alveolar soft tissue sarcoma -MONDO:0868104 pfapa syndrome GARD:5657 MONDO:equivalentTo PFAPA syndrome -MONDO:0868105 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency GARD:5658 MONDO:equivalentTo Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency -MONDO:0868106 46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency GARD:5659 MONDO:equivalentTo 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency -MONDO:0868107 d-2-hydroxyglutaric aciduria GARD:5661 MONDO:equivalentTo D-2-hydroxyglutaric aciduria -MONDO:0868108 3-hydroxyisobutyric aciduria GARD:5662 MONDO:equivalentTo 3-hydroxyisobutyric aciduria -MONDO:0868109 3-methylglutaconic aciduria type 3 GARD:5663 MONDO:equivalentTo 3-methylglutaconic aciduria type 3 -MONDO:0868110 3c syndrome GARD:5666 MONDO:equivalentTo 3C syndrome -MONDO:0868111 3m syndrome GARD:5667 MONDO:equivalentTo 3M syndrome -MONDO:0868112 hawkinsinuria GARD:5668 MONDO:equivalentTo Hawkinsinuria -MONDO:0868113 46,xx gonadal dysgenesis GARD:5671 MONDO:equivalentTo 46,XX gonadal dysgenesis -MONDO:0868114 trisomy x GARD:5672 MONDO:equivalentTo Trisomy X -MONDO:0868115 47,xyy syndrome GARD:5674 MONDO:equivalentTo 47,XYY syndrome -MONDO:0868116 48,xxxy syndrome GARD:5676 MONDO:equivalentTo 48,XXXY syndrome -MONDO:0868117 48,xxyy syndrome GARD:5677 MONDO:equivalentTo 48,XXYY syndrome -MONDO:0868118 pentasomy x GARD:5678 MONDO:equivalentTo Pentasomy X -MONDO:0868119 49,xxxxy syndrome GARD:5679 MONDO:equivalentTo 49,XXXXY syndrome -MONDO:0868120 46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency GARD:5680 MONDO:equivalentTo 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency -MONDO:0868121 5-oxoprolinase deficiency GARD:5681 MONDO:equivalentTo 5-oxoprolinase deficiency -MONDO:0868122 6-pyruvoyl-tetrahydropterin synthase deficiency GARD:5682 MONDO:equivalentTo 6-pyruvoyl-tetrahydropterin synthase deficiency -MONDO:0868123 smith-lemli-opitz syndrome GARD:5683 MONDO:equivalentTo Smith-Lemli-Opitz syndrome -MONDO:0868124 glycogen storage disease due to muscle phosphofructokinase deficiency GARD:5686 MONDO:equivalentTo Glycogen storage disease due to muscle phosphofructokinase deficiency -MONDO:0868125 temtamy syndrome GARD:5688 MONDO:equivalentTo Temtamy syndrome -MONDO:0868126 refsum disease GARD:5691 MONDO:equivalentTo Refsum disease -MONDO:0868127 partial androgen insensitivity syndrome GARD:5692 MONDO:equivalentTo Partial androgen insensitivity syndrome -MONDO:0868128 reactive arthritis GARD:5693 MONDO:equivalentTo Reactive arthritis -MONDO:0868129 retinitis pigmentosa GARD:5694 MONDO:equivalentTo Retinitis pigmentosa -MONDO:0868130 retinopathy of prematurity GARD:5695 MONDO:equivalentTo Retinopathy of prematurity -MONDO:0868131 rett syndrome GARD:5696 MONDO:equivalentTo Rett syndrome -MONDO:0868132 rheumatic fever GARD:5699 MONDO:equivalentTo Rheumatic fever -MONDO:0868133 axenfeld-rieger syndrome GARD:5701 MONDO:equivalentTo Axenfeld-Rieger syndrome -MONDO:0868134 idiopathic achalasia GARD:5708 MONDO:equivalentTo Idiopathic achalasia -MONDO:0868135 glycogen storage disease due to acid maltase deficiency GARD:5714 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency -MONDO:0868136 acrocallosal syndrome GARD:5721 MONDO:equivalentTo Acrocallosal syndrome -MONDO:0868137 acrodermatitis enteropathica GARD:5723 MONDO:equivalentTo Acrodermatitis enteropathica -MONDO:0868138 acrodysostosis GARD:5724 MONDO:equivalentTo Acrodysostosis -MONDO:0868139 acromegaly GARD:5725 MONDO:equivalentTo Acromegaly -MONDO:0868140 congenital isolated acth deficiency GARD:5727 MONDO:equivalentTo Congenital isolated ACTH deficiency -MONDO:0868141 actinomycosis GARD:5728 MONDO:equivalentTo Actinomycosis -MONDO:0868142 acute intermittent porphyria GARD:5732 MONDO:equivalentTo Acute intermittent porphyria -MONDO:0868143 adams-oliver syndrome GARD:5739 MONDO:equivalentTo Adams-Oliver syndrome -MONDO:0868144 addison disease GARD:5740 MONDO:equivalentTo Addison disease -MONDO:0868145 ameloblastoma GARD:5747 MONDO:equivalentTo Ameloblastoma -MONDO:0868146 severe combined immunodeficiency due to adenosine deaminase deficiency GARD:5748 MONDO:equivalentTo Severe combined immunodeficiency due to adenosine deaminase deficiency -MONDO:0868147 holmes-adie syndrome GARD:5749 MONDO:equivalentTo Holmes-Adie syndrome -MONDO:0868148 aicardi-goutières syndrome GARD:575 MONDO:equivalentTo Aicardi-Goutières syndrome -MONDO:0868149 adiposis dolorosa GARD:5750 MONDO:equivalentTo Adiposis dolorosa -MONDO:0868150 x-linked adrenoleukodystrophy GARD:5758 MONDO:equivalentTo X-linked adrenoleukodystrophy -MONDO:0868151 familial afibrinogenemia GARD:5761 MONDO:equivalentTo Familial afibrinogenemia -MONDO:0868152 aicardi syndrome GARD:5764 MONDO:equivalentTo Aicardi syndrome -MONDO:0868153 pseudohypoparathyroidism with albright hereditary osteodystrophy GARD:5770 MONDO:equivalentTo Pseudohypoparathyroidism with Albright hereditary osteodystrophy -MONDO:0868154 alexander disease GARD:5774 MONDO:equivalentTo Alexander disease -MONDO:0868155 alkaptonuria GARD:5775 MONDO:equivalentTo Alkaptonuria -MONDO:0868156 alpers-huttenlocher syndrome GARD:5783 MONDO:equivalentTo Alpers-Huttenlocher syndrome -MONDO:0868157 alpha-1-antitrypsin deficiency GARD:5784 MONDO:equivalentTo Alpha-1-antitrypsin deficiency -MONDO:0868158 alport syndrome GARD:5785 MONDO:equivalentTo Alport syndrome -MONDO:0868159 amyotrophic lateral sclerosis GARD:5786 MONDO:equivalentTo Amyotrophic lateral sclerosis -MONDO:0868160 alström syndrome GARD:5787 MONDO:equivalentTo Alström syndrome -MONDO:0868161 amelogenesis imperfecta GARD:5791 MONDO:equivalentTo Amelogenesis imperfecta -MONDO:0868162 al amyloidosis GARD:5797 MONDO:equivalentTo AL amyloidosis -MONDO:0868163 otopalatodigital syndrome type 2 GARD:5802 MONDO:equivalentTo Otopalatodigital syndrome type 2 -MONDO:0868164 androgen insensitivity syndrome GARD:5803 MONDO:equivalentTo Androgen insensitivity syndrome -MONDO:0868165 isolated anencephaly/exencephaly GARD:5808 MONDO:equivalentTo Isolated anencephaly/exencephaly -MONDO:0868166 angelman syndrome GARD:5810 MONDO:equivalentTo Angelman syndrome -MONDO:0868167 isolated aniridia GARD:5816 MONDO:equivalentTo Isolated aniridia -MONDO:0868168 anodontia GARD:5818 MONDO:equivalentTo Anodontia -MONDO:0868169 testicular agenesis GARD:5819 MONDO:equivalentTo Testicular agenesis -MONDO:0868170 antiphospholipid syndrome GARD:5824 MONDO:equivalentTo Antiphospholipid syndrome -MONDO:0868171 antley-bixler syndrome GARD:5826 MONDO:equivalentTo Antley-Bixler syndrome -MONDO:0868172 aorta coarctation GARD:5828 MONDO:equivalentTo Aorta coarctation -MONDO:0868173 short stature-webbed neck-heart disease syndrome GARD:583 MONDO:equivalentTo Short stature-webbed neck-heart disease syndrome -MONDO:0868174 apert syndrome GARD:5833 MONDO:equivalentTo Apert syndrome -MONDO:0868175 aplasia cutis congenita GARD:5835 MONDO:equivalentTo Aplasia cutis congenita -MONDO:0868176 idiopathic aplastic anemia GARD:5836 MONDO:equivalentTo Idiopathic aplastic anemia -MONDO:0868177 arachnoiditis GARD:5839 MONDO:equivalentTo Arachnoiditis -MONDO:0868178 hirschsprung disease-nail hypoplasia-dysmorphism syndrome GARD:584 MONDO:equivalentTo Hirschsprung disease-nail hypoplasia-dysmorphism syndrome -MONDO:0868179 argininemia GARD:5840 MONDO:equivalentTo Argininemia -MONDO:0868180 argininosuccinic aciduria GARD:5843 MONDO:equivalentTo Argininosuccinic aciduria -MONDO:0868181 arrhythmogenic right ventricular cardiomyopathy GARD:5847 MONDO:equivalentTo Arrhythmogenic right ventricular cardiomyopathy -MONDO:0868182 asbestos intoxication GARD:5852 MONDO:equivalentTo Asbestos intoxication -MONDO:0868183 asherman syndrome GARD:5853 MONDO:equivalentTo Asherman syndrome -MONDO:0868184 aspartylglucosaminuria GARD:5854 MONDO:equivalentTo Aspartylglucosaminuria -MONDO:0868185 aspergillosis GARD:5856 MONDO:equivalentTo Aspergillosis -MONDO:0868186 anaplastic astrocytoma GARD:5860 MONDO:equivalentTo Anaplastic astrocytoma -MONDO:0868187 ataxia-telangiectasia GARD:5862 MONDO:equivalentTo Ataxia-telangiectasia -MONDO:0868188 alpha-thalassemia-x-linked intellectual disability syndrome GARD:5864 MONDO:equivalentTo Alpha-thalassemia-X-linked intellectual disability syndrome -MONDO:0868189 atrial septal defect, ostium secundum type GARD:5865 MONDO:equivalentTo Atrial septal defect, ostium secundum type -MONDO:0868190 localized lipodystrophy GARD:5867 MONDO:equivalentTo Localized lipodystrophy -MONDO:0868191 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome GARD:587 MONDO:equivalentTo Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome -MONDO:0868192 autoimmune hemolytic anemia GARD:5870 MONDO:equivalentTo Autoimmune hemolytic anemia -MONDO:0868193 autoimmune hepatitis GARD:5871 MONDO:equivalentTo Autoimmune hepatitis -MONDO:0868194 babesiosis GARD:5878 MONDO:equivalentTo Babesiosis -MONDO:0868195 alar cartilages hypoplasia-coloboma-telecanthus syndrome GARD:588 MONDO:equivalentTo Alar cartilages hypoplasia-coloboma-telecanthus syndrome -MONDO:0868196 baló concentric sclerosis GARD:5885 MONDO:equivalentTo Baló concentric sclerosis -MONDO:0868197 bannayan-riley-ruvalcaba syndrome GARD:5887 MONDO:equivalentTo Bannayan-Riley-Ruvalcaba syndrome -MONDO:0868198 albinism-deafness syndrome GARD:589 MONDO:equivalentTo Albinism-deafness syndrome -MONDO:0868199 barth syndrome GARD:5890 MONDO:equivalentTo Barth syndrome -MONDO:0868200 bartter syndrome GARD:5893 MONDO:equivalentTo Bartter syndrome -MONDO:0868201 cln3 disease GARD:5897 MONDO:equivalentTo CLN3 disease -MONDO:0868202 congenital myopathy GARD:5898 MONDO:equivalentTo Congenital myopathy -MONDO:0868203 congenital contractural arachnodactyly GARD:5899 MONDO:equivalentTo Congenital contractural arachnodactyly -MONDO:0868204 spinocerebellar ataxia type 34 GARD:59 MONDO:equivalentTo Spinocerebellar ataxia type 34 -MONDO:0868205 becker muscular dystrophy GARD:5900 MONDO:equivalentTo Becker muscular dystrophy -MONDO:0868206 diffuse astrocytoma GARD:5907 MONDO:equivalentTo Diffuse astrocytoma -MONDO:0868207 mucous membrane pemphigoid GARD:5913 MONDO:equivalentTo Mucous membrane pemphigoid -MONDO:0868208 ocular albinism with late-onset sensorineural deafness GARD:592 MONDO:equivalentTo Ocular albinism with late-onset sensorineural deafness -MONDO:0868209 birdshot chorioretinopathy GARD:5926 MONDO:equivalentTo Birdshot chorioretinopathy -MONDO:0868210 blue diaper syndrome GARD:5939 MONDO:equivalentTo Blue diaper syndrome -MONDO:0868211 oculocutaneous albinism type 1b GARD:594 MONDO:equivalentTo Oculocutaneous albinism type 1B -MONDO:0868212 blue rubber bleb nevus GARD:5940 MONDO:equivalentTo Blue rubber bleb nevus -MONDO:0868213 bowen-conradi syndrome GARD:5950 MONDO:equivalentTo Bowen-Conradi syndrome -MONDO:0868214 bronchiolitis obliterans with obstructive pulmonary disease GARD:5961 MONDO:equivalentTo Bronchiolitis obliterans with obstructive pulmonary disease -MONDO:0868215 bronchopulmonary dysplasia GARD:5962 MONDO:equivalentTo Bronchopulmonary dysplasia -MONDO:0868216 brucellosis GARD:5966 MONDO:equivalentTo Brucellosis -MONDO:0868217 budd-chiari syndrome GARD:5968 MONDO:equivalentTo Budd-Chiari syndrome -MONDO:0868218 buerger disease GARD:5969 MONDO:equivalentTo Buerger disease -MONDO:0868219 bullous pemphigoid GARD:5972 MONDO:equivalentTo Bullous pemphigoid -MONDO:0868220 burkitt lymphoma GARD:5973 MONDO:equivalentTo Burkitt lymphoma -MONDO:0868221 burning mouth syndrome GARD:5974 MONDO:equivalentTo Burning mouth syndrome -MONDO:0868222 scleredema GARD:5975 MONDO:equivalentTo Scleredema -MONDO:0868223 c syndrome GARD:5978 MONDO:equivalentTo C syndrome -MONDO:0868224 hereditary angioedema GARD:5979 MONDO:equivalentTo Hereditary angioedema -MONDO:0868225 calciphylaxis GARD:5980 MONDO:equivalentTo Calciphylaxis -MONDO:0868226 canavan disease GARD:5984 MONDO:equivalentTo Canavan disease -MONDO:0868227 fetal alcohol syndrome GARD:599 MONDO:equivalentTo Fetal alcohol syndrome -MONDO:0868228 carcinoid syndrome GARD:5994 MONDO:equivalentTo Carcinoid syndrome -MONDO:0868229 acromesomelic dysplasia GARD:6 MONDO:equivalentTo Acromesomelic dysplasia -MONDO:0868230 iridocorneal endothelial syndrome GARD:60 MONDO:equivalentTo Iridocorneal endothelial syndrome -MONDO:0868231 glycogen storage disease due to aldolase a deficiency GARD:600 MONDO:equivalentTo Glycogen storage disease due to aldolase A deficiency -MONDO:0868232 carnosinase deficiency GARD:6001 MONDO:equivalentTo Carnosinase deficiency -MONDO:0868233 caroli disease GARD:6002 MONDO:equivalentTo Caroli disease -MONDO:0868234 carpenter syndrome GARD:6003 MONDO:equivalentTo Carpenter syndrome -MONDO:0868235 unicentric castleman disease GARD:6005 MONDO:equivalentTo Unicentric Castleman disease -MONDO:0868236 caudal regression syndrome GARD:6007 MONDO:equivalentTo Caudal regression syndrome -MONDO:0868237 macrocystic lymphatic malformation GARD:6010 MONDO:equivalentTo Macrocystic lymphatic malformation -MONDO:0868238 bilateral perisylvian polymicrogyria GARD:6011 MONDO:equivalentTo Bilateral perisylvian polymicrogyria -MONDO:0868239 central core disease GARD:6014 MONDO:equivalentTo Central core disease -MONDO:0868240 central diabetes insipidus GARD:6015 MONDO:equivalentTo Central diabetes insipidus -MONDO:0868241 allergic bronchopulmonary aspergillosis GARD:602 MONDO:equivalentTo Allergic bronchopulmonary aspergillosis -MONDO:0868242 cerebrocostomandibular syndrome GARD:6026 MONDO:equivalentTo Cerebrocostomandibular syndrome -MONDO:0868243 cofs syndrome GARD:6027 MONDO:equivalentTo COFS syndrome -MONDO:0868244 chandler syndrome GARD:6033 MONDO:equivalentTo Chandler syndrome -MONDO:0868245 charcot-marie-tooth disease/hereditary motor and sensory neuropathy GARD:6034 MONDO:equivalentTo Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy -MONDO:0868246 chédiak-higashi syndrome GARD:6035 MONDO:equivalentTo Chédiak-Higashi syndrome -MONDO:0868247 cherubism GARD:6036 MONDO:equivalentTo Cherubism -MONDO:0868248 chikungunya GARD:6038 MONDO:equivalentTo Chikungunya -MONDO:0868249 child syndrome GARD:6039 MONDO:equivalentTo CHILD syndrome -MONDO:0868250 autosomal dominant palmoplantar keratoderma and congenital alopecia GARD:604 MONDO:equivalentTo Autosomal dominant palmoplantar keratoderma and congenital alopecia -MONDO:0868251 childhood disintegrative disorder GARD:6040 MONDO:equivalentTo Childhood disintegrative disorder -MONDO:0868252 cholera GARD:6043 MONDO:equivalentTo Cholera -MONDO:0868253 rhizomelic chondrodysplasia punctata type 1 GARD:6049 MONDO:equivalentTo Rhizomelic chondrodysplasia punctata type 1 -MONDO:0868254 alopecia-contractures-dwarfism-intellectual disability syndrome GARD:605 MONDO:equivalentTo Alopecia-contractures-dwarfism-intellectual disability syndrome -MONDO:0868255 chondrosarcoma GARD:6055 MONDO:equivalentTo Chondrosarcoma -MONDO:0868256 moynahan syndrome GARD:606 MONDO:equivalentTo Moynahan syndrome -MONDO:0868257 choroideremia GARD:6061 MONDO:equivalentTo Choroideremia -MONDO:0868258 chromophobe renal cell carcinoma GARD:6064 MONDO:equivalentTo Chromophobe renal cell carcinoma -MONDO:0868259 ring chromosome 13 syndrome GARD:6069 MONDO:equivalentTo Ring chromosome 13 syndrome -MONDO:0868260 alopecia-epilepsy-pyorrhea-intellectual disability syndrome GARD:607 MONDO:equivalentTo Alopecia-epilepsy-pyorrhea-intellectual disability syndrome -MONDO:0868261 ring chromosome 14 syndrome GARD:6072 MONDO:equivalentTo Ring chromosome 14 syndrome -MONDO:0868262 ring chromosome 18 syndrome GARD:6077 MONDO:equivalentTo Ring chromosome 18 syndrome -MONDO:0868263 1p36 deletion syndrome GARD:6082 MONDO:equivalentTo 1p36 deletion syndrome -MONDO:0868264 ring chromosome 21 syndrome GARD:6083 MONDO:equivalentTo Ring chromosome 21 syndrome -MONDO:0868265 mosaic trisomy 22 GARD:6085 MONDO:equivalentTo Mosaic trisomy 22 -MONDO:0868266 trisomy 4p GARD:6091 MONDO:equivalentTo Trisomy 4p -MONDO:0868267 trisomy 5p GARD:6093 MONDO:equivalentTo Trisomy 5p -MONDO:0868268 ring chromosome 6 syndrome GARD:6095 MONDO:equivalentTo Ring chromosome 6 syndrome -MONDO:0868269 femoral-facial syndrome GARD:61 MONDO:equivalentTo Femoral-facial syndrome -MONDO:0868270 chronic granulomatous disease GARD:6100 MONDO:equivalentTo Chronic granulomatous disease -MONDO:0868271 chronic inflammatory demyelinating polyneuropathy GARD:6102 MONDO:equivalentTo Chronic inflammatory demyelinating polyneuropathy -MONDO:0868272 b-cell chronic lymphocytic leukemia GARD:6104 MONDO:equivalentTo B-cell chronic lymphocytic leukemia -MONDO:0868273 chronic myeloid leukemia GARD:6105 MONDO:equivalentTo Chronic myeloid leukemia -MONDO:0868274 chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis GARD:6108 MONDO:equivalentTo Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis -MONDO:0868275 eosinophilic granulomatosis with polyangiitis GARD:6111 MONDO:equivalentTo Eosinophilic granulomatosis with polyangiitis -MONDO:0868276 citrullinemia type i GARD:6114 MONDO:equivalentTo Citrullinemia type I -MONDO:0868277 cleidocranial dysplasia GARD:6118 MONDO:equivalentTo Cleidocranial dysplasia -MONDO:0868278 alopecia-intellectual disability syndrome GARD:612 MONDO:equivalentTo Alopecia-intellectual disability syndrome -MONDO:0868279 coats disease GARD:6121 MONDO:equivalentTo Coats disease -MONDO:0868280 cockayne syndrome GARD:6122 MONDO:equivalentTo Cockayne syndrome -MONDO:0868281 coffin-lowry syndrome GARD:6123 MONDO:equivalentTo Coffin-Lowry syndrome -MONDO:0868282 coffin-siris syndrome GARD:6124 MONDO:equivalentTo Coffin-Siris syndrome -MONDO:0868283 cogan-reese syndrome GARD:6125 MONDO:equivalentTo Cogan-Reese syndrome -MONDO:0868284 cohen syndrome GARD:6126 MONDO:equivalentTo Cohen syndrome -MONDO:0868285 alopecia totalis GARD:613 MONDO:equivalentTo Alopecia totalis -MONDO:0868286 cold agglutinin disease GARD:6130 MONDO:equivalentTo Cold agglutinin disease -MONDO:0868287 alopecia universalis GARD:614 MONDO:equivalentTo Alopecia universalis -MONDO:0868288 common variable immunodeficiency GARD:6140 MONDO:equivalentTo Common variable immunodeficiency -MONDO:0868289 hereditary thrombophilia due to congenital antithrombin deficiency GARD:6148 MONDO:equivalentTo Hereditary thrombophilia due to congenital antithrombin deficiency -MONDO:0868290 congenital fiber-type disproportion myopathy GARD:6161 MONDO:equivalentTo Congenital fiber-type disproportion myopathy -MONDO:0868291 congenital heart block GARD:6164 MONDO:equivalentTo Congenital heart block -MONDO:0868292 hepatoerythropoietic porphyria GARD:6169 MONDO:equivalentTo Hepatoerythropoietic porphyria -MONDO:0868293 oxoglutaric aciduria GARD:617 MONDO:equivalentTo Oxoglutaric aciduria -MONDO:0868294 x-linked dominant chondrodysplasia punctata GARD:6189 MONDO:equivalentTo X-linked dominant chondrodysplasia punctata -MONDO:0868295 triatrial heart GARD:6194 MONDO:equivalentTo Triatrial heart -MONDO:0868296 congenital hereditary endothelial dystrophy type ii GARD:6196 MONDO:equivalentTo Congenital hereditary endothelial dystrophy type II -MONDO:0868297 filippi syndrome GARD:62 MONDO:equivalentTo Filippi syndrome -MONDO:0868298 cowden syndrome GARD:6202 MONDO:equivalentTo Cowden syndrome -MONDO:0868299 cramp-fasciculation syndrome GARD:6205 MONDO:equivalentTo Cramp-fasciculation syndrome -MONDO:0868300 crouzon syndrome GARD:6206 MONDO:equivalentTo Crouzon syndrome -MONDO:0868301 craniosynostosis GARD:6209 MONDO:equivalentTo Craniosynostosis -MONDO:0868302 alpha-thalassemia GARD:621 MONDO:equivalentTo Alpha-thalassemia -MONDO:0868303 monosomy 5p GARD:6213 MONDO:equivalentTo Monosomy 5p -MONDO:0868304 simple cryoglobulinemia GARD:6217 MONDO:equivalentTo Simple cryoglobulinemia -MONDO:0868305 cryptococcosis GARD:6218 MONDO:equivalentTo Cryptococcosis -MONDO:0868306 cushing syndrome GARD:6224 MONDO:equivalentTo Cushing syndrome -MONDO:0868307 rare cutaneous lupus erythematosus GARD:6225 MONDO:equivalentTo Rare cutaneous lupus erythematosus -MONDO:0868308 primary cutaneous t-cell lymphoma GARD:6226 MONDO:equivalentTo Primary cutaneous T-cell lymphoma -MONDO:0868309 cutis laxa GARD:6227 MONDO:equivalentTo Cutis laxa -MONDO:0868310 cutis marmorata telangiectatica congenita GARD:6228 MONDO:equivalentTo Cutis marmorata telangiectatica congenita -MONDO:0868311 cyclic neutropenia GARD:6229 MONDO:equivalentTo Cyclic neutropenia -MONDO:0868312 cystic fibrosis GARD:6233 MONDO:equivalentTo Cystic fibrosis -MONDO:0868313 cystinosis GARD:6236 MONDO:equivalentTo Cystinosis -MONDO:0868314 cystinuria GARD:6237 MONDO:equivalentTo Cystinuria -MONDO:0868315 autosomal dominant alport syndrome GARD:624 MONDO:equivalentTo Autosomal dominant Alport syndrome -MONDO:0868316 isolated dandy-walker malformation GARD:6242 MONDO:equivalentTo Isolated Dandy-Walker malformation -MONDO:0868317 darier disease GARD:6243 MONDO:equivalentTo Darier disease -MONDO:0868318 malignant atrophic papulosis GARD:6249 MONDO:equivalentTo Malignant atrophic papulosis -MONDO:0868319 autosomal recessive alport syndrome GARD:625 MONDO:equivalentTo Autosomal recessive Alport syndrome -MONDO:0868320 dengue fever GARD:6254 MONDO:equivalentTo Dengue fever -MONDO:0868321 dentinogenesis imperfecta GARD:6258 MONDO:equivalentTo Dentinogenesis imperfecta -MONDO:0868322 dermatomyositis GARD:6263 MONDO:equivalentTo Dermatomyositis -MONDO:0868323 desmoplastic small round cell tumor GARD:6265 MONDO:equivalentTo Desmoplastic small round cell tumor -MONDO:0868324 neuromyelitis optica spectrum disorder GARD:6267 MONDO:equivalentTo Neuromyelitis optica spectrum disorder -MONDO:0868325 blackfan-diamond anemia GARD:6274 MONDO:equivalentTo Blackfan-Diamond anemia -MONDO:0868326 diastrophic dysplasia GARD:6275 MONDO:equivalentTo Diastrophic dysplasia -MONDO:0868327 diencephalic syndrome GARD:6276 MONDO:equivalentTo Diencephalic syndrome -MONDO:0868328 dracunculiasis GARD:6286 MONDO:equivalentTo Dracunculiasis -MONDO:0868329 duane retraction syndrome GARD:6288 MONDO:equivalentTo Duane retraction syndrome -MONDO:0868330 dubowitz syndrome GARD:6290 MONDO:equivalentTo Dubowitz syndrome -MONDO:0868331 duchenne muscular dystrophy GARD:6291 MONDO:equivalentTo Duchenne muscular dystrophy -MONDO:0868332 dyggve-melchior-clausen disease GARD:6295 MONDO:equivalentTo Dyggve-Melchior-Clausen disease -MONDO:0868333 autosomal recessive generalized dystrophic epidermolysis bullosa, severe form GARD:6308 MONDO:equivalentTo Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form -MONDO:0868334 eales disease GARD:6309 MONDO:equivalentTo Eales disease -MONDO:0868335 ebstein malformation of the tricuspid valve GARD:6313 MONDO:equivalentTo Ebstein malformation of the tricuspid valve -MONDO:0868336 ectodermal dysplasia syndrome GARD:6317 MONDO:equivalentTo Ectodermal dysplasia syndrome -MONDO:0868337 isolated split hand-split foot malformation GARD:6319 MONDO:equivalentTo Isolated split hand-split foot malformation -MONDO:0868338 trisomy 18 GARD:6321 MONDO:equivalentTo Trisomy 18 -MONDO:0868339 ehlers-danlos syndrome GARD:6322 MONDO:equivalentTo Ehlers-Danlos syndrome -MONDO:0868340 eisenmenger syndrome GARD:6323 MONDO:equivalentTo Eisenmenger syndrome -MONDO:0868341 emery-dreifuss muscular dystrophy GARD:6329 MONDO:equivalentTo Emery-Dreifuss muscular dystrophy -MONDO:0868342 encephalitis lethargica GARD:6332 MONDO:equivalentTo Encephalitis lethargica -MONDO:0868343 isolated encephalocele GARD:6333 MONDO:equivalentTo Isolated encephalocele -MONDO:0868344 endocardial fibroelastosis GARD:6336 MONDO:equivalentTo Endocardial fibroelastosis -MONDO:0868345 infective endocarditis GARD:6337 MONDO:equivalentTo Infective endocarditis -MONDO:0868346 endometrial stromal sarcoma GARD:6339 MONDO:equivalentTo Endometrial stromal sarcoma -MONDO:0868347 leber congenital amaurosis GARD:634 MONDO:equivalentTo Leber congenital amaurosis -MONDO:0868348 eosinophilic fasciitis GARD:6351 MONDO:equivalentTo Eosinophilic fasciitis -MONDO:0868349 ependymoma GARD:6353 MONDO:equivalentTo Ependymoma -MONDO:0868350 epidermodysplasia verruciformis GARD:6357 MONDO:equivalentTo Epidermodysplasia verruciformis -MONDO:0868351 epidermolysis bullosa acquisita GARD:6360 MONDO:equivalentTo Epidermolysis bullosa acquisita -MONDO:0868352 erdheim-chester disease GARD:6369 MONDO:equivalentTo Erdheim-Chester disease -MONDO:0868353 amaurosis-hypertrichosis syndrome GARD:637 MONDO:equivalentTo Amaurosis-hypertrichosis syndrome -MONDO:0868354 primary erythromelalgia GARD:6377 MONDO:equivalentTo Primary erythromelalgia -MONDO:0868355 esophageal atresia GARD:6381 MONDO:equivalentTo Esophageal atresia -MONDO:0868356 carcinoma of esophagus GARD:6383 MONDO:equivalentTo Carcinoma of esophagus -MONDO:0868357 cryoglobulinemic vasculitis GARD:6386 MONDO:equivalentTo Cryoglobulinemic vasculitis -MONDO:0868358 evans syndrome GARD:6389 MONDO:equivalentTo Evans syndrome -MONDO:0868359 skeletal ewing sarcoma GARD:6390 MONDO:equivalentTo Skeletal Ewing sarcoma -MONDO:0868360 bladder exstrophy GARD:6398 MONDO:equivalentTo Bladder exstrophy -MONDO:0868361 fountain syndrome GARD:64 MONDO:equivalentTo Fountain syndrome -MONDO:0868362 congenital amegakaryocytic thrombocytopenia GARD:640 MONDO:equivalentTo Congenital amegakaryocytic thrombocytopenia -MONDO:0868363 fabry disease GARD:6400 MONDO:equivalentTo Fabry disease -MONDO:0868364 congenital factor x deficiency GARD:6404 MONDO:equivalentTo Congenital factor X deficiency -MONDO:0868365 acquired hemophilia a GARD:6405 MONDO:equivalentTo Acquired hemophilia A -MONDO:0868366 bilateral striopallidodentate calcinosis GARD:6406 MONDO:equivalentTo Bilateral striopallidodentate calcinosis -MONDO:0868367 familial adenomatous polyposis GARD:6408 MONDO:equivalentTo Familial adenomatous polyposis -MONDO:0868368 familial chylomicronemia syndrome GARD:6414 MONDO:equivalentTo Familial chylomicronemia syndrome -MONDO:0868369 familial mediterranean fever GARD:6421 MONDO:equivalentTo Familial Mediterranean fever -MONDO:0868370 fanconi anemia GARD:6425 MONDO:equivalentTo Fanconi anemia -MONDO:0868371 farber disease GARD:6426 MONDO:equivalentTo Farber disease -MONDO:0868372 farmer's lung disease GARD:6427 MONDO:equivalentTo Farmer's lung disease -MONDO:0868373 fatal familial insomnia GARD:6429 MONDO:equivalentTo Fatal familial insomnia -MONDO:0868374 fetal hydantoin syndrome GARD:6435 MONDO:equivalentTo Fetal hydantoin syndrome -MONDO:0868375 fibrous dysplasia of bone GARD:6444 MONDO:equivalentTo Fibrous dysplasia of bone -MONDO:0868376 fibrodysplasia ossificans progressiva GARD:6445 MONDO:equivalentTo Fibrodysplasia ossificans progressiva -MONDO:0868377 severe primary trimethylaminuria GARD:6447 MONDO:equivalentTo Severe primary trimethylaminuria -MONDO:0868378 hypoplastic amelogenesis imperfecta GARD:645 MONDO:equivalentTo Hypoplastic amelogenesis imperfecta -MONDO:0868379 fish-eye disease GARD:6450 MONDO:equivalentTo Fish-eye disease -MONDO:0868380 floating-harbor syndrome GARD:6455 MONDO:equivalentTo Floating-Harbor syndrome -MONDO:0868381 focal dermal hypoplasia GARD:6457 MONDO:equivalentTo Focal dermal hypoplasia -MONDO:0868382 enamel-renal syndrome GARD:646 MONDO:equivalentTo Enamel-renal syndrome -MONDO:0868383 fragile x syndrome GARD:6464 MONDO:equivalentTo Fragile X syndrome -MONDO:0868384 fraser syndrome GARD:6465 MONDO:equivalentTo Fraser syndrome -MONDO:0868385 freeman-sheldon syndrome GARD:6466 MONDO:equivalentTo Freeman-Sheldon syndrome -MONDO:0868386 friedreich ataxia GARD:6468 MONDO:equivalentTo Friedreich ataxia -MONDO:0868387 amelo-onycho-hypohidrotic syndrome GARD:647 MONDO:equivalentTo Amelo-onycho-hypohidrotic syndrome -MONDO:0868388 essential fructosuria GARD:6471 MONDO:equivalentTo Essential fructosuria -MONDO:0868389 fucosidosis GARD:6473 MONDO:equivalentTo Fucosidosis -MONDO:0868390 congenital muscular dystrophy, fukuyama type GARD:6475 MONDO:equivalentTo Congenital muscular dystrophy, Fukuyama type -MONDO:0868391 fumaric aciduria GARD:6476 MONDO:equivalentTo Fumaric aciduria -MONDO:0868392 gm1 gangliosidosis type 1 GARD:6479 MONDO:equivalentTo GM1 gangliosidosis type 1 -MONDO:0868393 autoerythrocyte sensitization syndrome GARD:6481 MONDO:equivalentTo Autoerythrocyte sensitization syndrome -MONDO:0868394 gardner syndrome GARD:6482 MONDO:equivalentTo Gardner syndrome -MONDO:0868395 malt lymphoma GARD:6485 MONDO:equivalentTo MALT lymphoma -MONDO:0868396 pemphigoid gestationis GARD:6497 MONDO:equivalentTo Pemphigoid gestationis -MONDO:0868397 gestational trophoblastic neoplasm GARD:6498 MONDO:equivalentTo Gestational trophoblastic neoplasm -MONDO:0868398 galloway-mowat syndrome GARD:65 MONDO:equivalentTo Galloway-Mowat syndrome -MONDO:0868399 giant axonal neuropathy GARD:6500 MONDO:equivalentTo Giant axonal neuropathy -MONDO:0868400 pituitary gigantism GARD:6506 MONDO:equivalentTo Pituitary gigantism -MONDO:0868401 glial tumor GARD:6513 MONDO:equivalentTo Glial tumor -MONDO:0868402 gliomatosis cerebri GARD:6514 MONDO:equivalentTo Gliomatosis cerebri -MONDO:0868403 glossopharyngeal neuralgia GARD:6519 MONDO:equivalentTo Glossopharyngeal neuralgia -MONDO:0868404 class i glucose-6-phosphate dehydrogenase deficiency GARD:6520 MONDO:equivalentTo Class I glucose-6-phosphate dehydrogenase deficiency -MONDO:0868405 glucose-galactose malabsorption GARD:6521 MONDO:equivalentTo Glucose-galactose malabsorption -MONDO:0868406 glutaryl-coa dehydrogenase deficiency GARD:6522 MONDO:equivalentTo Glutaryl-CoA dehydrogenase deficiency -MONDO:0868407 multiple acyl-coa dehydrogenase deficiency GARD:6523 MONDO:equivalentTo Multiple acyl-CoA dehydrogenase deficiency -MONDO:0868408 glycogen storage disease due to muscle glycogen phosphorylase deficiency GARD:6528 MONDO:equivalentTo Glycogen storage disease due to muscle glycogen phosphorylase deficiency -MONDO:0868409 glycogen storage disease due to liver glycogen phosphorylase deficiency GARD:6529 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency -MONDO:0868410 beta-mercaptolactate cysteine disulfiduria GARD:654 MONDO:equivalentTo Beta-mercaptolactate cysteine disulfiduria -MONDO:0868411 gorham-stout disease GARD:6542 MONDO:equivalentTo Gorham-Stout disease -MONDO:0868412 acrogeria GARD:6543 MONDO:equivalentTo Acrogeria -MONDO:0868413 acute graft versus host disease GARD:6544 MONDO:equivalentTo Acute graft versus host disease -MONDO:0868414 greig cephalopolysyndactyly syndrome GARD:6550 MONDO:equivalentTo Greig cephalopolysyndactyly syndrome -MONDO:0868415 guillain-barré syndrome GARD:6554 MONDO:equivalentTo Guillain-Barré syndrome -MONDO:0868416 gyrate atrophy of choroid and retina GARD:6556 MONDO:equivalentTo Gyrate atrophy of choroid and retina -MONDO:0868417 congenital factor xii deficiency GARD:6558 MONDO:equivalentTo Congenital factor XII deficiency -MONDO:0868418 familial benign chronic pemphigus GARD:6559 MONDO:equivalentTo Familial benign chronic pemphigus -MONDO:0868419 classic hairy cell leukemia GARD:6560 MONDO:equivalentTo Classic hairy cell leukemia -MONDO:0868420 pantothenate kinase-associated neurodegeneration GARD:6564 MONDO:equivalentTo Pantothenate kinase-associated neurodegeneration -MONDO:0868421 harlequin ichthyosis GARD:6568 MONDO:equivalentTo Harlequin ichthyosis -MONDO:0868422 hartnup disease GARD:6569 MONDO:equivalentTo Hartnup disease -MONDO:0868423 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome GARD:6571 MONDO:equivalentTo Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome -MONDO:0868424 sickle cell-hemoglobin c disease syndrome GARD:6584 MONDO:equivalentTo Sickle cell-hemoglobin C disease syndrome -MONDO:0868425 shiga toxin-associated hemolytic uremic syndrome GARD:6588 MONDO:equivalentTo Shiga toxin-associated hemolytic uremic syndrome -MONDO:0868426 familial hemophagocytic lymphohistiocytosis GARD:6589 MONDO:equivalentTo Familial hemophagocytic lymphohistiocytosis -MONDO:0868427 hemophilia a GARD:6591 MONDO:equivalentTo Hemophilia A -MONDO:0868428 essential thrombocythemia GARD:6594 MONDO:equivalentTo Essential thrombocythemia -MONDO:0868429 gorlin-chaudhry-moss syndrome GARD:66 MONDO:equivalentTo Gorlin-Chaudhry-Moss syndrome -MONDO:0868430 adult hepatocellular carcinoma GARD:6608 MONDO:equivalentTo Adult hepatocellular carcinoma -MONDO:0868431 hereditary amyloidosis GARD:6611 MONDO:equivalentTo Hereditary amyloidosis -MONDO:0868432 cln9 disease GARD:6618 MONDO:equivalentTo CLN9 disease -MONDO:0868433 hereditary coproporphyria GARD:6619 MONDO:equivalentTo Hereditary coproporphyria -MONDO:0868434 hereditary elliptocytosis GARD:6621 MONDO:equivalentTo Hereditary elliptocytosis -MONDO:0868435 hereditary fructose intolerance GARD:6622 MONDO:equivalentTo Hereditary fructose intolerance -MONDO:0868436 hereditary hemorrhagic telangiectasia GARD:6626 MONDO:equivalentTo Hereditary hemorrhagic telangiectasia -MONDO:0868437 hereditary chronic pancreatitis GARD:6632 MONDO:equivalentTo Hereditary chronic pancreatitis -MONDO:0868438 hereditary sensory and autonomic neuropathy type 1 GARD:6635 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 1 -MONDO:0868439 hereditary spastic paraplegia GARD:6637 MONDO:equivalentTo Hereditary spastic paraplegia -MONDO:0868440 hereditary spherocytosis GARD:6639 MONDO:equivalentTo Hereditary spherocytosis -MONDO:0868441 anaplastic thyroid carcinoma GARD:664 MONDO:equivalentTo Anaplastic thyroid carcinoma -MONDO:0868442 hermansky-pudlak syndrome GARD:6643 MONDO:equivalentTo Hermansky-Pudlak syndrome -MONDO:0868443 herpes simplex virus encephalitis GARD:6649 MONDO:equivalentTo Herpes simplex virus encephalitis -MONDO:0868444 chronic hiccup GARD:6657 MONDO:equivalentTo Chronic hiccup -MONDO:0868445 hirschsprung disease GARD:6660 MONDO:equivalentTo Hirschsprung disease -MONDO:0868446 histidinemia GARD:6661 MONDO:equivalentTo Histidinemia -MONDO:0868447 holoprosencephaly GARD:6665 MONDO:equivalentTo Holoprosencephaly -MONDO:0868448 holt-oram syndrome GARD:6666 MONDO:equivalentTo Holt-Oram syndrome -MONDO:0868449 classic homocystinuria GARD:6667 MONDO:equivalentTo Classic homocystinuria -MONDO:0868450 congenital horner syndrome GARD:6670 MONDO:equivalentTo Congenital Horner syndrome -MONDO:0868451 mucopolysaccharidosis type 2 GARD:6675 MONDO:equivalentTo Mucopolysaccharidosis type 2 -MONDO:0868452 huntington disease GARD:6677 MONDO:equivalentTo Huntington disease -MONDO:0868453 x-linked sideroblastic anemia and spinocerebellar ataxia GARD:668 MONDO:equivalentTo X-linked sideroblastic anemia and spinocerebellar ataxia -MONDO:0868454 hydranencephaly GARD:6681 MONDO:equivalentTo Hydranencephaly -MONDO:0868455 congenital hydrocephalus GARD:6682 MONDO:equivalentTo Congenital hydrocephalus -MONDO:0868456 hydrolethalus GARD:6683 MONDO:equivalentTo Hydrolethalus -MONDO:0868457 aneurysm of sinus of valsalva GARD:670 MONDO:equivalentTo Aneurysm of sinus of Valsalva -MONDO:0868458 dysbetalipoproteinemia GARD:6703 MONDO:equivalentTo Dysbetalipoproteinemia -MONDO:0868459 familial apolipoprotein a5 deficiency GARD:6704 MONDO:equivalentTo Familial apolipoprotein A5 deficiency -MONDO:0868460 angel-shaped phalango-epiphyseal dysplasia GARD:671 MONDO:equivalentTo Angel-shaped phalango-epiphyseal dysplasia -MONDO:0868461 hyperprolinemia type 2 GARD:6710 MONDO:equivalentTo Hyperprolinemia type 2 -MONDO:0868462 hypochondroplasia GARD:6724 MONDO:equivalentTo Hypochondroplasia -MONDO:0868463 hypocomplementemic urticarial vasculitis GARD:6725 MONDO:equivalentTo Hypocomplementemic urticarial vasculitis -MONDO:0868464 hypokalemic periodic paralysis GARD:6729 MONDO:equivalentTo Hypokalemic periodic paralysis -MONDO:0868465 hypophosphatasia GARD:6734 MONDO:equivalentTo Hypophosphatasia -MONDO:0868466 hypophosphatemic rickets GARD:6735 MONDO:equivalentTo Hypophosphatemic rickets -MONDO:0868467 hypoplastic left heart syndrome GARD:6739 MONDO:equivalentTo Hypoplastic left heart syndrome -MONDO:0868468 mucolipidosis type ii GARD:6749 MONDO:equivalentTo Mucolipidosis type II -MONDO:0868469 idiopathic pulmonary artery dilatation GARD:6757 MONDO:equivalentTo Idiopathic pulmonary artery dilatation -MONDO:0868470 hereditary neurocutaneous malformation GARD:676 MONDO:equivalentTo Hereditary neurocutaneous malformation -MONDO:0868471 idiopathic juvenile osteoporosis GARD:6760 MONDO:equivalentTo Idiopathic juvenile osteoporosis -MONDO:0868472 idiopathic pulmonary hemosiderosis GARD:6763 MONDO:equivalentTo Idiopathic pulmonary hemosiderosis -MONDO:0868473 incontinentia pigmenti GARD:6778 MONDO:equivalentTo Incontinentia pigmenti -MONDO:0868474 infantile apnea GARD:6779 MONDO:equivalentTo Infantile apnea -MONDO:0868475 fuchs heterochromic iridocyclitis GARD:6791 MONDO:equivalentTo Fuchs heterochromic iridocyclitis -MONDO:0868476 isaacs syndrome GARD:6793 MONDO:equivalentTo Isaacs syndrome -MONDO:0868477 right sided atrial isomerism GARD:6795 MONDO:equivalentTo Right sided atrial isomerism -MONDO:0868478 jackson-weiss syndrome GARD:6796 MONDO:equivalentTo Jackson-Weiss syndrome -MONDO:0868479 japanese encephalitis GARD:6797 MONDO:equivalentTo Japanese encephalitis -MONDO:0868480 autosomal recessive spondylocostal dysostosis GARD:6798 MONDO:equivalentTo Autosomal recessive spondylocostal dysostosis -MONDO:0868481 hypoglossia-hypodactyly syndrome GARD:68 MONDO:equivalentTo Hypoglossia-hypodactyly syndrome -MONDO:0868482 autosomal dominant hyper-ige syndrome GARD:6800 MONDO:equivalentTo Autosomal dominant hyper-IgE syndrome -MONDO:0868483 spinocerebellar ataxia type 3 GARD:6801 MONDO:equivalentTo Spinocerebellar ataxia type 3 -MONDO:0868484 joubert syndrome GARD:6802 MONDO:equivalentTo Joubert syndrome -MONDO:0868485 juvenile dermatomyositis GARD:6805 MONDO:equivalentTo Juvenile dermatomyositis -MONDO:0868486 infantile systemic hyalinosis GARD:6807 MONDO:equivalentTo Infantile systemic hyalinosis -MONDO:0868487 juvenile myoclonic epilepsy GARD:6808 MONDO:equivalentTo Juvenile myoclonic epilepsy -MONDO:0868488 kabuki syndrome GARD:6810 MONDO:equivalentTo Kabuki syndrome -MONDO:0868489 kaposi sarcoma GARD:6814 MONDO:equivalentTo Kaposi sarcoma -MONDO:0868490 kawasaki disease GARD:6816 MONDO:equivalentTo Kawasaki disease -MONDO:0868491 kearns-sayre syndrome GARD:6817 MONDO:equivalentTo Kearns-Sayre syndrome -MONDO:0868492 kennedy disease GARD:6818 MONDO:equivalentTo Kennedy disease -MONDO:0868493 muir-torre syndrome GARD:6821 MONDO:equivalentTo Muir-Torre syndrome -MONDO:0868494 keratosis follicularis spinulosa decalvans GARD:6829 MONDO:equivalentTo Keratosis follicularis spinulosa decalvans -MONDO:0868495 angiostrongyliasis GARD:683 MONDO:equivalentTo Angiostrongyliasis -MONDO:0868496 bilirubin encephalopathy GARD:6830 MONDO:equivalentTo Bilirubin encephalopathy -MONDO:0868497 kikuchi-fujimoto disease GARD:6834 MONDO:equivalentTo Kikuchi-Fujimoto disease -MONDO:0868498 kimura disease GARD:6835 MONDO:equivalentTo Kimura disease -MONDO:0868499 klüver-bucy syndrome GARD:6840 MONDO:equivalentTo Klüver-Bucy syndrome -MONDO:0868500 kniest dysplasia GARD:6841 MONDO:equivalentTo Kniest dysplasia -MONDO:0868501 osteochondrosis of the tarsal bone GARD:6842 MONDO:equivalentTo Osteochondrosis of the tarsal bone -MONDO:0868502 krabbe disease GARD:6844 MONDO:equivalentTo Krabbe disease -MONDO:0868503 cln4a disease GARD:6845 MONDO:equivalentTo CLN4A disease -MONDO:0868504 lacrimoauriculodentodigital syndrome GARD:6848 MONDO:equivalentTo Lacrimoauriculodentodigital syndrome -MONDO:0868505 aniridia-absent patella syndrome GARD:685 MONDO:equivalentTo Aniridia-absent patella syndrome -MONDO:0868506 lambert-eaton myasthenic syndrome GARD:6851 MONDO:equivalentTo Lambert-Eaton myasthenic syndrome -MONDO:0868507 landau-kleffner syndrome GARD:6855 MONDO:equivalentTo Landau-Kleffner syndrome -MONDO:0868508 langerhans cell histiocytosis GARD:6858 MONDO:equivalentTo Langerhans cell histiocytosis -MONDO:0868509 laron syndrome GARD:6859 MONDO:equivalentTo Laron syndrome -MONDO:0868510 larsen syndrome GARD:6860 MONDO:equivalentTo Larsen syndrome -MONDO:0868511 congenital laryngomalacia GARD:6865 MONDO:equivalentTo Congenital laryngomalacia -MONDO:0868512 bardet-biedl syndrome GARD:6866 MONDO:equivalentTo Bardet-Biedl syndrome -MONDO:0868513 long chain 3-hydroxyacyl-coa dehydrogenase deficiency GARD:6867 MONDO:equivalentTo Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency -MONDO:0868514 leber hereditary optic neuropathy GARD:6870 MONDO:equivalentTo Leber hereditary optic neuropathy -MONDO:0868515 ledderhose disease GARD:6873 MONDO:equivalentTo Ledderhose disease -MONDO:0868516 legg-calvé-perthes disease GARD:6874 MONDO:equivalentTo Legg-Calvé-Perthes disease -MONDO:0868517 legionnaires disease GARD:6876 MONDO:equivalentTo Legionnaires disease -MONDO:0868518 leigh syndrome GARD:6877 MONDO:equivalentTo Leigh syndrome -MONDO:0868519 erythroderma desquamativum GARD:6878 MONDO:equivalentTo Erythroderma desquamativum -MONDO:0868520 leiomyosarcoma GARD:6880 MONDO:equivalentTo Leiomyosarcoma -MONDO:0868521 leishmaniasis GARD:6881 MONDO:equivalentTo Leishmaniasis -MONDO:0868522 lemierre syndrome GARD:6882 MONDO:equivalentTo Lemierre syndrome -MONDO:0868523 leprechaunism GARD:6885 MONDO:equivalentTo Leprechaunism -MONDO:0868524 leprosy GARD:6886 MONDO:equivalentTo Leprosy -MONDO:0868525 aniridia-ptosis-intellectual disability-familial obesity syndrome GARD:689 MONDO:equivalentTo Aniridia-ptosis-intellectual disability-familial obesity syndrome -MONDO:0868526 leukocyte adhesion deficiency type i GARD:6893 MONDO:equivalentTo Leukocyte adhesion deficiency type I -MONDO:0868527 leukodystrophy GARD:6895 MONDO:equivalentTo Leukodystrophy -MONDO:0868528 hantavirus pulmonary syndrome GARD:69 MONDO:equivalentTo Hantavirus pulmonary syndrome -MONDO:0868529 aniridia-renal agenesis-psychomotor retardation syndrome GARD:690 MONDO:equivalentTo Aniridia-renal agenesis-psychomotor retardation syndrome -MONDO:0868530 lhermitte-duclos disease GARD:6901 MONDO:equivalentTo Lhermitte-Duclos disease -MONDO:0868531 li-fraumeni syndrome GARD:6902 MONDO:equivalentTo Li-Fraumeni syndrome -MONDO:0868532 light chain deposition disease GARD:6906 MONDO:equivalentTo Light chain deposition disease -MONDO:0868533 limb-girdle muscular dystrophy GARD:6907 MONDO:equivalentTo Limb-girdle muscular dystrophy -MONDO:0868534 liposarcoma GARD:6913 MONDO:equivalentTo Liposarcoma -MONDO:0868535 lissencephaly type 1 due to doublecortin gene mutation GARD:6914 MONDO:equivalentTo Lissencephaly type 1 due to doublecortin gene mutation -MONDO:0868536 listeriosis GARD:6915 MONDO:equivalentTo Listeriosis -MONDO:0868537 locked-in syndrome GARD:6919 MONDO:equivalentTo Locked-in syndrome -MONDO:0868538 anisakiasis GARD:693 MONDO:equivalentTo Anisakiasis -MONDO:0868539 jessner lymphocytic infiltration of the skin GARD:6940 MONDO:equivalentTo Jessner lymphocytic infiltration of the skin -MONDO:0868540 lymphomatoid granulomatosis GARD:6943 MONDO:equivalentTo Lymphomatoid granulomatosis -MONDO:0868541 lymphomatoid papulosis GARD:6944 MONDO:equivalentTo Lymphomatoid papulosis -MONDO:0868542 megalencephaly-capillary malformation-polymicrogyria syndrome GARD:6950 MONDO:equivalentTo Megalencephaly-capillary malformation-polymicrogyria syndrome -MONDO:0868543 macrodactyly of toes GARD:6951 MONDO:equivalentTo Macrodactyly of toes -MONDO:0868544 macular corneal dystrophy GARD:6953 MONDO:equivalentTo Macular corneal dystrophy -MONDO:0868545 sporadic creutzfeldt-jakob disease GARD:6956 MONDO:equivalentTo Sporadic Creutzfeldt-Jakob disease -MONDO:0868546 multiple symmetric lipomatosis GARD:6957 MONDO:equivalentTo Multiple symmetric lipomatosis -MONDO:0868547 maffucci syndrome GARD:6958 MONDO:equivalentTo Maffucci syndrome -MONDO:0868548 mal de débarquement GARD:6959 MONDO:equivalentTo Mal de débarquement -MONDO:0868549 ankyloblepharon filiforme adnatum-cleft palate syndrome GARD:696 MONDO:equivalentTo Ankyloblepharon filiforme adnatum-cleft palate syndrome -MONDO:0868550 malakoplakia GARD:6960 MONDO:equivalentTo Malakoplakia -MONDO:0868551 malaria GARD:6961 MONDO:equivalentTo Malaria -MONDO:0868552 undifferentiated pleomorphic sarcoma GARD:6963 MONDO:equivalentTo Undifferentiated pleomorphic sarcoma -MONDO:0868553 malignant hyperthermia of anesthesia GARD:6964 MONDO:equivalentTo Malignant hyperthermia of anesthesia -MONDO:0868554 alpha-mannosidosis GARD:6968 MONDO:equivalentTo Alpha-mannosidosis -MONDO:0868555 mantle cell lymphoma GARD:6969 MONDO:equivalentTo Mantle cell lymphoma -MONDO:0868556 ankyloblepharon filiforme adnatum-imperforate anus syndrome GARD:697 MONDO:equivalentTo Ankyloblepharon filiforme adnatum-imperforate anus syndrome -MONDO:0868557 marchiafava-bignami disease GARD:6971 MONDO:equivalentTo Marchiafava-Bignami disease -MONDO:0868558 marcus-gunn syndrome GARD:6972 MONDO:equivalentTo Marcus-Gunn syndrome -MONDO:0868559 marden-walker syndrome GARD:6973 MONDO:equivalentTo Marden-Walker syndrome -MONDO:0868560 marfan syndrome type 1 GARD:6975 MONDO:equivalentTo Marfan syndrome type 1 -MONDO:0868561 marshall syndrome GARD:6984 MONDO:equivalentTo Marshall syndrome -MONDO:0868562 marshall-smith syndrome GARD:6985 MONDO:equivalentTo Marshall-Smith syndrome -MONDO:0868563 masa syndrome GARD:6986 MONDO:equivalentTo MASA syndrome -MONDO:0868564 mastocytosis GARD:6987 MONDO:equivalentTo Mastocytosis -MONDO:0868565 maxillonasal dysplasia GARD:6992 MONDO:equivalentTo Maxillonasal dysplasia -MONDO:0868566 mccune-albright syndrome GARD:6995 MONDO:equivalentTo McCune-Albright syndrome -MONDO:0868567 cartilage-hair hypoplasia GARD:6996 MONDO:equivalentTo Cartilage-hair hypoplasia -MONDO:0868568 acromicric dysplasia GARD:7 MONDO:equivalentTo Acromicric dysplasia -MONDO:0868569 kasabach-merritt syndrome GARD:70 MONDO:equivalentTo Kasabach-Merritt syndrome -MONDO:0868570 muc1-related autosomal dominant tubulointerstitial kidney disease GARD:7002 MONDO:equivalentTo MUC1-related autosomal dominant tubulointerstitial kidney disease -MONDO:0868571 medullary thyroid carcinoma GARD:7004 MONDO:equivalentTo Medullary thyroid carcinoma -MONDO:0868572 medulloblastoma GARD:7005 MONDO:equivalentTo Medulloblastoma -MONDO:0868573 imerslund-gräsbeck syndrome GARD:7006 MONDO:equivalentTo Imerslund-Gräsbeck syndrome -MONDO:0868574 blepharospasm-oromandibular dystonia syndrome GARD:7008 MONDO:equivalentTo Blepharospasm-oromandibular dystonia syndrome -MONDO:0868575 melas GARD:7009 MONDO:equivalentTo MELAS -MONDO:0868576 dental ankylosis GARD:701 MONDO:equivalentTo Dental ankylosis -MONDO:0868577 melkersson-rosenthal syndrome GARD:7010 MONDO:equivalentTo Melkersson-Rosenthal syndrome -MONDO:0868578 melnick-needles syndrome GARD:7011 MONDO:equivalentTo Melnick-Needles syndrome -MONDO:0868579 meningioma GARD:7015 MONDO:equivalentTo Meningioma -MONDO:0868580 mercury poisoning GARD:7021 MONDO:equivalentTo Mercury poisoning -MONDO:0868581 pleural mesothelioma GARD:7026 MONDO:equivalentTo Pleural mesothelioma -MONDO:0868582 metaphyseal chondrodysplasia, schmid type GARD:7029 MONDO:equivalentTo Metaphyseal chondrodysplasia, Schmid type -MONDO:0868583 multiple osteochondromas GARD:7035 MONDO:equivalentTo Multiple osteochondromas -MONDO:0868584 microvillus inclusion disease GARD:7039 MONDO:equivalentTo Microvillus inclusion disease -MONDO:0868585 extranodal nasal nk/t cell lymphoma GARD:7041 MONDO:equivalentTo Extranodal nasal NK/T cell lymphoma -MONDO:0868586 igg4-related dacryoadenitis and sialadenitis GARD:7043 MONDO:equivalentTo IgG4-related dacryoadenitis and sialadenitis -MONDO:0868587 annular pancreas GARD:705 MONDO:equivalentTo Annular pancreas -MONDO:0868588 mixed connective tissue disease GARD:7051 MONDO:equivalentTo Mixed connective tissue disease -MONDO:0868589 localized scleroderma GARD:7058 MONDO:equivalentTo Localized scleroderma -MONDO:0868590 moyamoya disease GARD:7064 MONDO:equivalentTo Moyamoya disease -MONDO:0868591 mucopolysaccharidosis GARD:7065 MONDO:equivalentTo Mucopolysaccharidosis -MONDO:0868592 sanfilippo syndrome type a GARD:7071 MONDO:equivalentTo Sanfilippo syndrome type A -MONDO:0868593 sanfilippo syndrome type b GARD:7072 MONDO:equivalentTo Sanfilippo syndrome type B -MONDO:0868594 sanfilippo syndrome type c GARD:7073 MONDO:equivalentTo Sanfilippo syndrome type C -MONDO:0868595 sanfilippo syndrome type d GARD:7074 MONDO:equivalentTo Sanfilippo syndrome type D -MONDO:0868596 multiple system atrophy GARD:7079 MONDO:equivalentTo Multiple system atrophy -MONDO:0868597 mucopolysaccharidosis type 6 GARD:7095 MONDO:equivalentTo Mucopolysaccharidosis type 6 -MONDO:0868598 mucopolysaccharidosis type 7 GARD:7096 MONDO:equivalentTo Mucopolysaccharidosis type 7 -MONDO:0868599 muenke syndrome GARD:7097 MONDO:equivalentTo Muenke syndrome -MONDO:0868600 anonychia-onychodystrophy syndrome GARD:710 MONDO:equivalentTo Anonychia-onychodystrophy syndrome -MONDO:0868601 müllerian aplasia GARD:7100 MONDO:equivalentTo Müllerian aplasia -MONDO:0868602 multicentric reticulohistiocytosis GARD:7103 MONDO:equivalentTo Multicentric reticulohistiocytosis -MONDO:0868603 multiple myeloma GARD:7108 MONDO:equivalentTo Multiple myeloma -MONDO:0868604 autosomal recessive multiple pterygium syndrome GARD:7111 MONDO:equivalentTo Autosomal recessive multiple pterygium syndrome -MONDO:0868605 myasthenia gravis GARD:7122 MONDO:equivalentTo Myasthenia gravis -MONDO:0868606 matthew-wood syndrome GARD:713 MONDO:equivalentTo Matthew-Wood syndrome -MONDO:0868607 myelodysplastic syndrome GARD:7132 MONDO:equivalentTo Myelodysplastic syndrome -MONDO:0868608 myoclonus-dystonia syndrome GARD:7139 MONDO:equivalentTo Myoclonus-dystonia syndrome -MONDO:0868609 progressive myoclonic epilepsy GARD:7140 MONDO:equivalentTo Progressive myoclonic epilepsy -MONDO:0868610 merrf GARD:7144 MONDO:equivalentTo MERRF -MONDO:0868611 inflammatory myofibroblastic tumor GARD:7146 MONDO:equivalentTo Inflammatory myofibroblastic tumor -MONDO:0868612 hyaline body myopathy GARD:7148 MONDO:equivalentTo Hyaline body myopathy -MONDO:0868613 myxoid/round cell liposarcoma GARD:7157 MONDO:equivalentTo Myxoid/round cell liposarcoma -MONDO:0868614 hyperammonemia due to n-acetylglutamate synthase deficiency GARD:7158 MONDO:equivalentTo Hyperammonemia due to N-acetylglutamate synthase deficiency -MONDO:0868615 nail-patella syndrome GARD:7160 MONDO:equivalentTo Nail-patella syndrome -MONDO:0868616 nance-horan syndrome GARD:7161 MONDO:equivalentTo Nance-Horan syndrome -MONDO:0868617 narcolepsy type 1 GARD:7162 MONDO:equivalentTo Narcolepsy type 1 -MONDO:0868618 nasopharyngeal carcinoma GARD:7163 MONDO:equivalentTo Nasopharyngeal carcinoma -MONDO:0868619 gorlin syndrome GARD:7166 MONDO:equivalentTo Gorlin syndrome -MONDO:0868620 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome GARD:717 MONDO:equivalentTo Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome -MONDO:0868621 nelson syndrome GARD:7170 MONDO:equivalentTo Nelson syndrome -MONDO:0868622 childhood-onset nemaline myopathy GARD:7171 MONDO:equivalentTo Childhood-onset nemaline myopathy -MONDO:0868623 neonatal hemochromatosis GARD:7172 MONDO:equivalentTo Neonatal hemochromatosis -MONDO:0868624 nephrogenic diabetes insipidus GARD:7178 MONDO:equivalentTo Nephrogenic diabetes insipidus -MONDO:0868625 benign peripheral nerve sheath tumor GARD:7180 MONDO:equivalentTo Benign peripheral nerve sheath tumor -MONDO:0868626 netherton syndrome GARD:7182 MONDO:equivalentTo Netherton syndrome -MONDO:0868627 sialidosis type 2 GARD:7183 MONDO:equivalentTo Sialidosis type 2 -MONDO:0868628 neuroblastoma GARD:7185 MONDO:equivalentTo Neuroblastoma -MONDO:0868629 neurocutaneous melanocytosis GARD:7186 MONDO:equivalentTo Neurocutaneous melanocytosis -MONDO:0868630 anophthalmia plus syndrome GARD:719 MONDO:equivalentTo Anophthalmia plus syndrome -MONDO:0868631 neurofibroma GARD:7191 MONDO:equivalentTo Neurofibroma -MONDO:0868632 neurofibromatosis type 2 GARD:7193 MONDO:equivalentTo Neurofibromatosis type 2 -MONDO:0868633 neuroleptic malignant syndrome GARD:7195 MONDO:equivalentTo Neuroleptic malignant syndrome -MONDO:0868634 thymic aplasia GARD:7201 MONDO:equivalentTo Thymic aplasia -MONDO:0868635 infantile neurovisceral acid sphingomyelinase deficiency GARD:7206 MONDO:equivalentTo Infantile neurovisceral acid sphingomyelinase deficiency -MONDO:0868636 niemann-pick disease type c GARD:7207 MONDO:equivalentTo Niemann-Pick disease type C -MONDO:0868637 nocardiosis GARD:7210 MONDO:equivalentTo Nocardiosis -MONDO:0868638 glycine encephalopathy GARD:7219 MONDO:equivalentTo Glycine encephalopathy -MONDO:0868639 microphthalmia with limb anomalies GARD:722 MONDO:equivalentTo Microphthalmia with limb anomalies -MONDO:0868640 milroy disease GARD:7220 MONDO:equivalentTo Milroy disease -MONDO:0868641 norrie disease GARD:7224 MONDO:equivalentTo Norrie disease -MONDO:0868642 lesch-nyhan syndrome GARD:7226 MONDO:equivalentTo Lesch-Nyhan syndrome -MONDO:0868643 oculodentodigital dysplasia GARD:7239 MONDO:equivalentTo Oculodentodigital dysplasia -MONDO:0868644 oculopharyngeal muscular dystrophy GARD:7245 MONDO:equivalentTo Oculopharyngeal muscular dystrophy -MONDO:0868645 ollier disease GARD:7251 MONDO:equivalentTo Ollier disease -MONDO:0868646 onchocerciasis GARD:7252 MONDO:equivalentTo Onchocerciasis -MONDO:0868647 oral submucous fibrosis GARD:7264 MONDO:equivalentTo Oral submucous fibrosis -MONDO:0868648 carbamoyl-phosphate synthetase 1 deficiency GARD:7269 MONDO:equivalentTo Carbamoyl-phosphate synthetase 1 deficiency -MONDO:0868649 osteosarcoma GARD:7284 MONDO:equivalentTo Osteosarcoma -MONDO:0868650 ovarian cancer GARD:7295 MONDO:equivalentTo Ovarian cancer -MONDO:0868651 malignant mixed müllerian tumor of the ovary GARD:7296 MONDO:equivalentTo Malignant mixed Müllerian tumor of the ovary -MONDO:0868652 pachydermoperiostosis GARD:7299 MONDO:equivalentTo Pachydermoperiostosis -MONDO:0868653 x-linked hyper-igm syndrome GARD:73 MONDO:equivalentTo X-linked hyper-IgM syndrome -MONDO:0868654 anti-hla hyperimmunization GARD:730 MONDO:equivalentTo Anti-HLA hyperimmunization -MONDO:0868655 paget disease of the nipple GARD:7303 MONDO:equivalentTo Paget disease of the nipple -MONDO:0868656 pallister-hall syndrome GARD:7305 MONDO:equivalentTo Pallister-Hall syndrome -MONDO:0868657 congenital alpha2-antiplasmin deficiency GARD:731 MONDO:equivalentTo Congenital alpha2-antiplasmin deficiency -MONDO:0868658 pandas GARD:7312 MONDO:equivalentTo PANDAS -MONDO:0868659 localized lichen myxedematosus GARD:7321 MONDO:equivalentTo Localized lichen myxedematosus -MONDO:0868660 paracoccidioidomycosis GARD:7323 MONDO:equivalentTo Paracoccidioidomycosis -MONDO:0868661 paramyotonia congenita of von eulenburg GARD:7325 MONDO:equivalentTo Paramyotonia congenita of Von Eulenburg -MONDO:0868662 paraneoplastic neurologic syndrome GARD:7326 MONDO:equivalentTo Paraneoplastic neurologic syndrome -MONDO:0868663 parathyroid carcinoma GARD:7329 MONDO:equivalentTo Parathyroid carcinoma -MONDO:0868664 paroxysmal cold hemoglobinuria GARD:7335 MONDO:equivalentTo Paroxysmal cold hemoglobinuria -MONDO:0868665 paroxysmal nocturnal hemoglobinuria GARD:7337 MONDO:equivalentTo Paroxysmal nocturnal hemoglobinuria -MONDO:0868666 progressive hemifacial atrophy GARD:7338 MONDO:equivalentTo Progressive hemifacial atrophy -MONDO:0868667 trisomy 13 GARD:7341 MONDO:equivalentTo Trisomy 13 -MONDO:0868668 pearson syndrome GARD:7343 MONDO:equivalentTo Pearson syndrome -MONDO:0868669 peeling skin syndrome GARD:7347 MONDO:equivalentTo Peeling skin syndrome -MONDO:0868670 antisynthetase syndrome GARD:735 MONDO:equivalentTo Antisynthetase syndrome -MONDO:0868671 pemphigus foliaceus GARD:7354 MONDO:equivalentTo Pemphigus foliaceus -MONDO:0868672 pemphigus vulgaris GARD:7355 MONDO:equivalentTo Pemphigus vulgaris -MONDO:0868673 pentalogy of cantrell GARD:7359 MONDO:equivalentTo Pentalogy of Cantrell -MONDO:0868674 polyarteritis nodosa GARD:7360 MONDO:equivalentTo Polyarteritis nodosa -MONDO:0868675 peters anomaly GARD:7377 MONDO:equivalentTo Peters anomaly -MONDO:0868676 peutz-jeghers syndrome GARD:7378 MONDO:equivalentTo Peutz-Jeghers syndrome -MONDO:0868677 congenital aortopulmonary window GARD:738 MONDO:equivalentTo Congenital aortopulmonary window -MONDO:0868678 pfeiffer syndrome GARD:7380 MONDO:equivalentTo Pfeiffer syndrome -MONDO:0868679 liddle syndrome GARD:7381 MONDO:equivalentTo Liddle syndrome -MONDO:0868680 phenylketonuria GARD:7383 MONDO:equivalentTo Phenylketonuria -MONDO:0868681 sporadic pheochromocytoma/secreting paraganglioma GARD:7385 MONDO:equivalentTo Sporadic pheochromocytoma/secreting paraganglioma -MONDO:0868682 roberts syndrome GARD:7387 MONDO:equivalentTo Roberts syndrome -MONDO:0868683 glycogen storage disease due to phosphoglycerate kinase 1 deficiency GARD:7389 MONDO:equivalentTo Glycogen storage disease due to phosphoglycerate kinase 1 deficiency -MONDO:0868684 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome GARD:739 MONDO:equivalentTo Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome -MONDO:0868685 behavioral variant of frontotemporal dementia GARD:7392 MONDO:equivalentTo Behavioral variant of frontotemporal dementia -MONDO:0868686 tenosynovial giant cell tumor GARD:7396 MONDO:equivalentTo Tenosynovial giant cell tumor -MONDO:0868687 isolated growth hormone deficiency type ia GARD:7399 MONDO:equivalentTo Isolated growth hormone deficiency type IA -MONDO:0868688 aortic arch interruption GARD:740 MONDO:equivalentTo Aortic arch interruption -MONDO:0868689 pityriasis rubra pilaris GARD:7401 MONDO:equivalentTo Pityriasis rubra pilaris -MONDO:0868690 placental site trophoblastic tumor GARD:7403 MONDO:equivalentTo Placental site trophoblastic tumor -MONDO:0868691 aortic arch defects GARD:741 MONDO:equivalentTo Aortic arch defects -MONDO:0868692 poems syndrome GARD:7411 MONDO:equivalentTo POEMS syndrome -MONDO:0868693 poland syndrome GARD:7412 MONDO:equivalentTo Poland syndrome -MONDO:0868694 poliomyelitis GARD:7413 MONDO:equivalentTo Poliomyelitis -MONDO:0868695 cutaneous polyarteritis nodosa GARD:7415 MONDO:equivalentTo Cutaneous polyarteritis nodosa -MONDO:0868696 relapsing polychondritis GARD:7417 MONDO:equivalentTo Relapsing polychondritis -MONDO:0868697 polycythemia vera GARD:7422 MONDO:equivalentTo Polycythemia vera -MONDO:0868698 polymyositis GARD:7425 MONDO:equivalentTo Polymyositis -MONDO:0868699 supravalvular aortic stenosis GARD:743 MONDO:equivalentTo Supravalvular aortic stenosis -MONDO:0868700 porencephaly GARD:7430 MONDO:equivalentTo Porencephaly -MONDO:0868701 porphyria cutanea tarda GARD:7433 MONDO:equivalentTo Porphyria cutanea tarda -MONDO:0868702 posterior urethral valve GARD:7439 MONDO:equivalentTo Posterior urethral valve -MONDO:0868703 rare precocious puberty GARD:7446 MONDO:equivalentTo Rare precocious puberty -MONDO:0868704 primary biliary cholangitis GARD:7459 MONDO:equivalentTo Primary biliary cholangitis -MONDO:0868705 hutchinson-gilford progeria syndrome GARD:7467 MONDO:equivalentTo Hutchinson-Gilford progeria syndrome -MONDO:0868706 progressive multifocal leukoencephalopathy GARD:7468 MONDO:equivalentTo Progressive multifocal leukoencephalopathy -MONDO:0868707 progressive supranuclear palsy GARD:7471 MONDO:equivalentTo Progressive supranuclear palsy -MONDO:0868708 prolidase deficiency GARD:7473 MONDO:equivalentTo Prolidase deficiency -MONDO:0868709 proteus syndrome GARD:7475 MONDO:equivalentTo Proteus syndrome -MONDO:0868710 prune belly syndrome GARD:7479 MONDO:equivalentTo Prune belly syndrome -MONDO:0868711 aphalangy-syndactyly-microcephaly syndrome GARD:748 MONDO:equivalentTo Aphalangy-syndactyly-microcephaly syndrome -MONDO:0868712 butyrylcholinesterase deficiency GARD:7482 MONDO:equivalentTo Butyrylcholinesterase deficiency -MONDO:0868713 pseudohypoparathyroidism type 1a GARD:7486 MONDO:equivalentTo Pseudohypoparathyroidism type 1A -MONDO:0868714 pseudomyxoma peritonei GARD:7488 MONDO:equivalentTo Pseudomyxoma peritonei -MONDO:0868715 autoimmune pulmonary alveolar proteinosis GARD:7499 MONDO:equivalentTo Autoimmune pulmonary alveolar proteinosis -MONDO:0868716 pulmonary arterial hypertension GARD:7501 MONDO:equivalentTo Pulmonary arterial hypertension -MONDO:0868717 punctate inner choroidopathy GARD:7503 MONDO:equivalentTo Punctate inner choroidopathy -MONDO:0868718 pyoderma gangrenosum GARD:7510 MONDO:equivalentTo Pyoderma gangrenosum -MONDO:0868719 pyruvate carboxylase deficiency GARD:7512 MONDO:equivalentTo Pyruvate carboxylase deficiency -MONDO:0868720 pyruvate dehydrogenase deficiency GARD:7513 MONDO:equivalentTo Pyruvate dehydrogenase deficiency -MONDO:0868721 hemolytic anemia due to red cell pyruvate kinase deficiency GARD:7514 MONDO:equivalentTo Hemolytic anemia due to red cell pyruvate kinase deficiency -MONDO:0868722 q fever GARD:7515 MONDO:equivalentTo Q fever -MONDO:0868723 rabies GARD:7516 MONDO:equivalentTo Rabies -MONDO:0868724 ramon syndrome GARD:7523 MONDO:equivalentTo Ramon syndrome -MONDO:0868725 ramsay hunt syndrome GARD:7525 MONDO:equivalentTo Ramsay Hunt syndrome -MONDO:0868726 aplasia cutis congenita-intestinal lymphangiectasia syndrome GARD:753 MONDO:equivalentTo Aplasia cutis congenita-intestinal lymphangiectasia syndrome -MONDO:0868727 familial renal glucosuria GARD:7548 MONDO:equivalentTo Familial renal glucosuria -MONDO:0868728 primary renal tubular acidosis GARD:7552 MONDO:equivalentTo Primary renal tubular acidosis -MONDO:0868729 aplasia cutis-myopia syndrome GARD:756 MONDO:equivalentTo Aplasia cutis-myopia syndrome -MONDO:0868730 retinoblastoma GARD:7563 MONDO:equivalentTo Retinoblastoma -MONDO:0868731 reye syndrome GARD:7570 MONDO:equivalentTo Reye syndrome -MONDO:0868732 rhabdoid tumor GARD:7572 MONDO:equivalentTo Rhabdoid tumor -MONDO:0868733 familial dysautonomia GARD:7581 MONDO:equivalentTo Familial dysautonomia -MONDO:0868734 rocky mountain spotted fever GARD:7585 MONDO:equivalentTo Rocky Mountain spotted fever -MONDO:0868735 rosaï-dorfman disease GARD:7588 MONDO:equivalentTo Rosaï-Dorfman disease -MONDO:0868736 familial apolipoprotein c-ii deficiency GARD:759 MONDO:equivalentTo Familial apolipoprotein C-II deficiency -MONDO:0868737 rubinstein-taybi syndrome GARD:7593 MONDO:equivalentTo Rubinstein-Taybi syndrome -MONDO:0868738 saethre-chotzen syndrome GARD:7598 MONDO:equivalentTo Saethre-Chotzen syndrome -MONDO:0868739 hypohidrotic ectodermal dysplasia GARD:76 MONDO:equivalentTo Hypohidrotic ectodermal dysplasia -MONDO:0868740 sandhoff disease, infantile form GARD:7604 MONDO:equivalentTo Sandhoff disease, infantile form -MONDO:0868741 sapho syndrome GARD:7606 MONDO:equivalentTo SAPHO syndrome -MONDO:0868742 sarcoidosis GARD:7607 MONDO:equivalentTo Sarcoidosis -MONDO:0868743 x-linked scapuloperoneal muscular dystrophy GARD:7608 MONDO:equivalentTo X-linked scapuloperoneal muscular dystrophy -MONDO:0868744 familial scheuermann disease GARD:7610 MONDO:equivalentTo Familial Scheuermann disease -MONDO:0868745 autoimmune polyendocrinopathy type 2 GARD:7611 MONDO:equivalentTo Autoimmune polyendocrinopathy type 2 -MONDO:0868746 scleromyxedema GARD:7615 MONDO:equivalentTo Scleromyxedema -MONDO:0868747 kuru GARD:7617 MONDO:equivalentTo Kuru -MONDO:0868748 septo-optic dysplasia spectrum GARD:7627 MONDO:equivalentTo Septo-optic dysplasia spectrum -MONDO:0868749 severe combined immunodeficiency GARD:7628 MONDO:equivalentTo Severe combined immunodeficiency -MONDO:0868750 sézary syndrome GARD:7629 MONDO:equivalentTo Sézary syndrome -MONDO:0868751 sheehan syndrome GARD:7630 MONDO:equivalentTo Sheehan syndrome -MONDO:0868752 short syndrome GARD:7633 MONDO:equivalentTo SHORT syndrome -MONDO:0868753 sialidosis type 1 GARD:7639 MONDO:equivalentTo Sialidosis type 1 -MONDO:0868754 arachnodactyly-intellectual disability-dysmorphism syndrome GARD:764 MONDO:equivalentTo Arachnodactyly-intellectual disability-dysmorphism syndrome -MONDO:0868755 simpson-golabi-behmel syndrome GARD:7649 MONDO:equivalentTo Simpson-Golabi-Behmel syndrome -MONDO:0868756 sirenomelia GARD:7652 MONDO:equivalentTo Sirenomelia -MONDO:0868757 sitosterolemia GARD:7653 MONDO:equivalentTo Sitosterolemia -MONDO:0868758 sjögren-larsson syndrome GARD:7654 MONDO:equivalentTo Sjögren-Larsson syndrome -MONDO:0868759 sneddon syndrome GARD:7664 MONDO:equivalentTo Sneddon syndrome -MONDO:0868760 sphingolipidosis GARD:7672 MONDO:equivalentTo Sphingolipidosis -MONDO:0868761 isolated spina bifida GARD:7673 MONDO:equivalentTo Isolated spina bifida -MONDO:0868762 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia GARD:7687 MONDO:equivalentTo Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia -MONDO:0868763 gerstmann-straussler-scheinker syndrome GARD:7690 MONDO:equivalentTo Gerstmann-Straussler-Scheinker syndrome -MONDO:0868764 sporotrichosis GARD:7692 MONDO:equivalentTo Sporotrichosis -MONDO:0868765 sprengel deformity GARD:7693 MONDO:equivalentTo Sprengel deformity -MONDO:0868766 succinic semialdehyde dehydrogenase deficiency GARD:7695 MONDO:equivalentTo Succinic semialdehyde dehydrogenase deficiency -MONDO:0868767 aromatic l-amino acid decarboxylase deficiency GARD:770 MONDO:equivalentTo Aromatic L-amino acid decarboxylase deficiency -MONDO:0868768 stevens-johnson syndrome GARD:7700 MONDO:equivalentTo Stevens-Johnson syndrome -MONDO:0868769 sturge-weber syndrome GARD:7706 MONDO:equivalentTo Sturge-Weber syndrome -MONDO:0868770 subacute sclerosing leukoencephalitis GARD:7708 MONDO:equivalentTo Subacute sclerosing leukoencephalitis -MONDO:0868771 congenital sucrase-isomaltase deficiency GARD:7710 MONDO:equivalentTo Congenital sucrase-isomaltase deficiency -MONDO:0868772 superior mesenteric artery syndrome GARD:7712 MONDO:equivalentTo Superior mesenteric artery syndrome -MONDO:0868773 susac syndrome GARD:7713 MONDO:equivalentTo Susac syndrome -MONDO:0868774 sydenham chorea GARD:7716 MONDO:equivalentTo Sydenham chorea -MONDO:0868775 synovial sarcoma GARD:7721 MONDO:equivalentTo Synovial sarcoma -MONDO:0868776 syringomyelia GARD:7725 MONDO:equivalentTo Syringomyelia -MONDO:0868777 takayasu arteritis GARD:7730 MONDO:equivalentTo Takayasu arteritis -MONDO:0868778 tangier disease GARD:7731 MONDO:equivalentTo Tangier disease -MONDO:0868779 tay-sachs disease GARD:7737 MONDO:equivalentTo Tay-Sachs disease -MONDO:0868780 arterial tortuosity syndrome GARD:774 MONDO:equivalentTo Arterial tortuosity syndrome -MONDO:0868781 stevens-johnson syndrome/toxic epidermal necrolysis spectrum GARD:7743 MONDO:equivalentTo Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum -MONDO:0868782 hyperphenylalaninemia due to tetrahydrobiopterin deficiency GARD:7751 MONDO:equivalentTo Hyperphenylalaninemia due to tetrahydrobiopterin deficiency -MONDO:0868783 tetrasomy x GARD:7754 MONDO:equivalentTo Tetrasomy X -MONDO:0868784 thoracic outlet syndrome GARD:7759 MONDO:equivalentTo Thoracic outlet syndrome -MONDO:0868785 arthrogryposis multiplex congenita GARD:777 MONDO:equivalentTo Arthrogryposis multiplex congenita -MONDO:0868786 tietz syndrome GARD:7772 MONDO:equivalentTo Tietz syndrome -MONDO:0868787 tolosa-hunt syndrome GARD:7777 MONDO:equivalentTo Tolosa-Hunt syndrome -MONDO:0868788 townes-brocks syndrome GARD:7784 MONDO:equivalentTo Townes-Brocks syndrome -MONDO:0868789 transient erythroblastopenia of childhood GARD:7793 MONDO:equivalentTo Transient erythroblastopenia of childhood -MONDO:0868790 transposition of the great arteries GARD:7795 MONDO:equivalentTo Transposition of the great arteries -MONDO:0868791 tricho-dento-osseous syndrome GARD:7799 MONDO:equivalentTo Tricho-dento-osseous syndrome -MONDO:0868792 trichorhinophalangeal syndrome type 2 GARD:7801 MONDO:equivalentTo Trichorhinophalangeal syndrome type 2 -MONDO:0868793 trigeminal neuralgia GARD:7805 MONDO:equivalentTo Trigeminal neuralgia -MONDO:0868794 african trypanosomiasis GARD:7826 MONDO:equivalentTo African trypanosomiasis -MONDO:0868795 tuberculosis GARD:7827 MONDO:equivalentTo Tuberculosis -MONDO:0868796 tuberculous meningitis GARD:7828 MONDO:equivalentTo Tuberculous meningitis -MONDO:0868797 tuberous sclerosis complex GARD:7830 MONDO:equivalentTo Tuberous sclerosis complex -MONDO:0868798 turner syndrome GARD:7831 MONDO:equivalentTo Turner syndrome -MONDO:0868799 disorder of urea cycle metabolism and ammonia detoxification GARD:7837 MONDO:equivalentTo Disorder of urea cycle metabolism and ammonia detoxification -MONDO:0868800 arthrogryposis-like hand anomaly-sensorineural deafness syndrome GARD:784 MONDO:equivalentTo Arthrogryposis-like hand anomaly-sensorineural deafness syndrome -MONDO:0868801 cutaneous mastocytosis GARD:7842 MONDO:equivalentTo Cutaneous mastocytosis -MONDO:0868802 usher syndrome GARD:7843 MONDO:equivalentTo Usher syndrome -MONDO:0868803 porphyria variegata GARD:7848 MONDO:equivalentTo Porphyria variegata -MONDO:0868804 cutaneous small vessel vasculitis GARD:7851 MONDO:equivalentTo Cutaneous small vessel vasculitis -MONDO:0868805 vernal keratoconjunctivitis GARD:7854 MONDO:equivalentTo Vernal keratoconjunctivitis -MONDO:0868806 von hippel-lindau disease GARD:7855 MONDO:equivalentTo Von Hippel-Lindau disease -MONDO:0868807 hemophagocytic syndrome associated with an infection GARD:7857 MONDO:equivalentTo Hemophagocytic syndrome associated with an infection -MONDO:0868808 distal arthrogryposis GARD:786 MONDO:equivalentTo Distal arthrogryposis -MONDO:0868809 pseudopseudohypoparathyroidism GARD:7860 MONDO:equivalentTo Pseudopseudohypoparathyroidism -MONDO:0868810 vogt-koyanagi-harada disease GARD:7862 MONDO:equivalentTo Vogt-Koyanagi-Harada disease -MONDO:0868811 glycogen storage disease due to glucose-6-phosphatase deficiency type ia GARD:7864 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia -MONDO:0868812 neurofibromatosis type 1 GARD:7866 MONDO:equivalentTo Neurofibromatosis type 1 -MONDO:0868813 von willebrand disease GARD:7867 MONDO:equivalentTo Von Willebrand disease -MONDO:0868814 distal arthrogryposis type 1 GARD:787 MONDO:equivalentTo Distal arthrogryposis type 1 -MONDO:0868815 wagner disease GARD:7871 MONDO:equivalentTo Wagner disease -MONDO:0868816 waldenström macroglobulinemia GARD:7872 MONDO:equivalentTo Waldenström macroglobulinemia -MONDO:0868817 primary intestinal lymphangiectasia GARD:7873 MONDO:equivalentTo Primary intestinal lymphangiectasia -MONDO:0868818 autoimmune hemolytic anemia, warm type GARD:7876 MONDO:equivalentTo Autoimmune hemolytic anemia, warm type -MONDO:0868819 weaver syndrome GARD:7878 MONDO:equivalentTo Weaver syndrome -MONDO:0868820 nodular non-suppurative panniculitis GARD:7879 MONDO:equivalentTo Nodular non-suppurative panniculitis -MONDO:0868821 granulomatosis with polyangiitis GARD:7880 MONDO:equivalentTo Granulomatosis with polyangiitis -MONDO:0868822 leptospirosis GARD:7881 MONDO:equivalentTo Leptospirosis -MONDO:0868823 proximal spinal muscular atrophy type 1 GARD:7883 MONDO:equivalentTo Proximal spinal muscular atrophy type 1 -MONDO:0868824 werner syndrome GARD:7885 MONDO:equivalentTo Werner syndrome -MONDO:0868825 infantile spasms syndrome GARD:7887 MONDO:equivalentTo Infantile spasms syndrome -MONDO:0868826 western equine encephalitis GARD:7888 MONDO:equivalentTo Western equine encephalitis -MONDO:0868827 whipple disease GARD:7889 MONDO:equivalentTo Whipple disease -MONDO:0868828 intellectual disability-developmental delay-contractures syndrome GARD:7890 MONDO:equivalentTo Intellectual disability-developmental delay-contractures syndrome -MONDO:0868829 williams syndrome GARD:7891 MONDO:equivalentTo Williams syndrome -MONDO:0868830 nephroblastoma GARD:7892 MONDO:equivalentTo Nephroblastoma -MONDO:0868831 wilson disease GARD:7893 MONDO:equivalentTo Wilson disease -MONDO:0868832 wiskott-aldrich syndrome GARD:7895 MONDO:equivalentTo Wiskott-Aldrich syndrome -MONDO:0868833 wolf-hirschhorn syndrome GARD:7896 MONDO:equivalentTo Wolf-Hirschhorn syndrome -MONDO:0868834 wolfram syndrome GARD:7898 MONDO:equivalentTo Wolfram syndrome -MONDO:0868835 wolman disease GARD:7899 MONDO:equivalentTo Wolman disease -MONDO:0868836 metaphyseal chondrodysplasia, jansen type GARD:79 MONDO:equivalentTo Metaphyseal chondrodysplasia, Jansen type -MONDO:0868837 neurogenic arthrogryposis multiplex congenita GARD:790 MONDO:equivalentTo Neurogenic arthrogryposis multiplex congenita -MONDO:0868838 wyburn-mason syndrome GARD:7900 MONDO:equivalentTo Wyburn-Mason syndrome -MONDO:0868839 recessive x-linked ichthyosis GARD:7904 MONDO:equivalentTo Recessive X-linked ichthyosis -MONDO:0868840 x-linked lymphoproliferative disease due to sh2d1a deficiency GARD:7906 MONDO:equivalentTo X-linked lymphoproliferative disease due to SH2D1A deficiency -MONDO:0868841 xeroderma pigmentosum GARD:7910 MONDO:equivalentTo Xeroderma pigmentosum -MONDO:0868842 yellow fever GARD:7914 MONDO:equivalentTo Yellow fever -MONDO:0868843 zellweger syndrome GARD:7917 MONDO:equivalentTo Zellweger syndrome -MONDO:0868844 zollinger-ellison syndrome GARD:7918 MONDO:equivalentTo Zollinger-Ellison syndrome -MONDO:0868845 arthrogryposis multiplex congenita-whistling face syndrome GARD:792 MONDO:equivalentTo Arthrogryposis multiplex congenita-whistling face syndrome -MONDO:0868846 muscular dystrophy GARD:7922 MONDO:equivalentTo Muscular dystrophy -MONDO:0868847 arthrogryposis-renal dysfunction-cholestasis syndrome GARD:794 MONDO:equivalentTo Arthrogryposis-renal dysfunction-cholestasis syndrome -MONDO:0868848 johanson-blizzard syndrome GARD:80 MONDO:equivalentTo Johanson-Blizzard syndrome -MONDO:0868849 atrioventricular septal defect GARD:802 MONDO:equivalentTo Atrioventricular septal defect -MONDO:0868850 alagille syndrome GARD:804 MONDO:equivalentTo Alagille syndrome -MONDO:0868851 spastic paraplegia-facial-cutaneous lesions syndrome GARD:806 MONDO:equivalentTo Spastic paraplegia-facial-cutaneous lesions syndrome -MONDO:0868852 balantidiasis GARD:809 MONDO:equivalentTo Balantidiasis -MONDO:0868853 bangstad syndrome GARD:812 MONDO:equivalentTo Bangstad syndrome -MONDO:0868854 banki syndrome GARD:813 MONDO:equivalentTo Banki syndrome -MONDO:0868855 orofaciodigital syndrome type 4 GARD:816 MONDO:equivalentTo Orofaciodigital syndrome type 4 -MONDO:0868856 igg4-related mesenteritis GARD:8169 MONDO:equivalentTo IgG4-related mesenteritis -MONDO:0868857 achondroplasia GARD:8173 MONDO:equivalentTo Achondroplasia -MONDO:0868858 cryptomicrotia-brachydactyly-excess fingertip arch syndrome GARD:8174 MONDO:equivalentTo Cryptomicrotia-brachydactyly-excess fingertip arch syndrome -MONDO:0868859 proximal symphalangism GARD:8182 MONDO:equivalentTo Proximal symphalangism -MONDO:0868860 conotruncal heart malformations GARD:8189 MONDO:equivalentTo Conotruncal heart malformations -MONDO:0868861 barber-say syndrome GARD:819 MONDO:equivalentTo Barber-Say syndrome -MONDO:0868862 cysticercosis GARD:8194 MONDO:equivalentTo Cysticercosis -MONDO:0868863 strongyloidiasis GARD:8195 MONDO:equivalentTo Strongyloidiasis -MONDO:0868864 smith-magenis syndrome GARD:8197 MONDO:equivalentTo Smith-Magenis syndrome -MONDO:0868865 omenn syndrome GARD:8198 MONDO:equivalentTo Omenn syndrome -MONDO:0868866 kbg syndrome GARD:82 MONDO:equivalentTo KBG syndrome -MONDO:0868867 immunoglobulin a vasculitis GARD:8204 MONDO:equivalentTo Immunoglobulin A vasculitis -MONDO:0868868 congenital generalized hypertrichosis, ambras type GARD:8206 MONDO:equivalentTo Congenital generalized hypertrichosis, Ambras type -MONDO:0868869 pineocytoma GARD:8207 MONDO:equivalentTo Pineocytoma -MONDO:0868870 tropical spastic paraparesis GARD:8208 MONDO:equivalentTo Tropical spastic paraparesis -MONDO:0868871 lafora disease GARD:8214 MONDO:equivalentTo Lafora disease -MONDO:0868872 mansonelliasis GARD:8216 MONDO:equivalentTo Mansonelliasis -MONDO:0868873 b-cell prolymphocytic leukemia GARD:8223 MONDO:equivalentTo B-cell prolymphocytic leukemia -MONDO:0868874 chronic myelomonocytic leukemia GARD:8225 MONDO:equivalentTo Chronic myelomonocytic leukemia -MONDO:0868875 non-langerhans cell histiocytosis GARD:8231 MONDO:equivalentTo Non-Langerhans cell histiocytosis -MONDO:0868876 hemangioblastoma GARD:8232 MONDO:equivalentTo Hemangioblastoma -MONDO:0868877 gaucher disease GARD:8233 MONDO:equivalentTo Gaucher disease -MONDO:0868878 felty syndrome GARD:8234 MONDO:equivalentTo Felty syndrome -MONDO:0868879 choroid plexus carcinoma GARD:8238 MONDO:equivalentTo Choroid plexus carcinoma -MONDO:0868880 immunodeficiency by defective expression of mhc class ii GARD:824 MONDO:equivalentTo Immunodeficiency by defective expression of MHC class II -MONDO:0868881 sea-blue histiocytosis GARD:8241 MONDO:equivalentTo Sea-blue histiocytosis -MONDO:0868882 acquired idiopathic sideroblastic anemia GARD:8249 MONDO:equivalentTo Acquired idiopathic sideroblastic anemia -MONDO:0868883 omsk hemorrhagic fever GARD:8254 MONDO:equivalentTo Omsk hemorrhagic fever -MONDO:0868884 kyasanur forest disease GARD:8257 MONDO:equivalentTo Kyasanur forest disease -MONDO:0868885 plummer-vinson syndrome GARD:8259 MONDO:equivalentTo Plummer-Vinson syndrome -MONDO:0868886 frontometaphyseal dysplasia GARD:826 MONDO:equivalentTo Frontometaphyseal dysplasia -MONDO:0868887 muscular pseudohypertrophy-hypothyroidism syndrome GARD:8270 MONDO:equivalentTo Muscular pseudohypertrophy-hypothyroidism syndrome -MONDO:0868888 keratolytic winter erythema GARD:8275 MONDO:equivalentTo Keratolytic winter erythema -MONDO:0868889 hereditary amyloidosis with primary renal involvement GARD:8282 MONDO:equivalentTo Hereditary amyloidosis with primary renal involvement -MONDO:0868890 isolated complex iii deficiency GARD:8295 MONDO:equivalentTo Isolated complex III deficiency -MONDO:0868891 autosomal dominant kenny-caffey syndrome GARD:83 MONDO:equivalentTo Autosomal dominant Kenny-Caffey syndrome -MONDO:0868892 tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome GARD:8309 MONDO:equivalentTo Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome -MONDO:0868893 steinert myotonic dystrophy GARD:8310 MONDO:equivalentTo Steinert myotonic dystrophy -MONDO:0868894 pseudo-von willebrand disease GARD:8312 MONDO:equivalentTo Pseudo-von Willebrand disease -MONDO:0868895 dendritic cell tumor GARD:8317 MONDO:equivalentTo Dendritic cell tumor -MONDO:0868896 atelosteogenesis type ii GARD:8329 MONDO:equivalentTo Atelosteogenesis type II -MONDO:0868897 mohr-tranebjaerg syndrome GARD:8331 MONDO:equivalentTo Mohr-Tranebjaerg syndrome -MONDO:0868898 athabaskan brainstem dysgenesis syndrome GARD:8333 MONDO:equivalentTo Athabaskan brainstem dysgenesis syndrome -MONDO:0868899 amish nemaline myopathy GARD:8334 MONDO:equivalentTo Amish nemaline myopathy -MONDO:0868900 igg4-related mediastinitis GARD:8337 MONDO:equivalentTo IgG4-related mediastinitis -MONDO:0868901 phace syndrome GARD:8338 MONDO:equivalentTo PHACE syndrome -MONDO:0868902 marinesco-sjögren syndrome GARD:8341 MONDO:equivalentTo Marinesco-Sjögren syndrome -MONDO:0868903 spondylometaphyseal dysplasia, golden type GARD:8343 MONDO:equivalentTo Spondylometaphyseal dysplasia, Golden type -MONDO:0868904 abri amyloidosis GARD:8344 MONDO:equivalentTo ABri amyloidosis -MONDO:0868905 quebec platelet disorder GARD:8345 MONDO:equivalentTo Quebec platelet disorder -MONDO:0868906 hypomaturation amelogenesis imperfecta GARD:8349 MONDO:equivalentTo Hypomaturation amelogenesis imperfecta -MONDO:0868907 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome GARD:835 MONDO:equivalentTo Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome -MONDO:0868908 epilepsy-microcephaly-skeletal dysplasia syndrome GARD:836 MONDO:equivalentTo Epilepsy-microcephaly-skeletal dysplasia syndrome -MONDO:0868909 x-linked intellectual disability-retinitis pigmentosa syndrome GARD:8360 MONDO:equivalentTo X-linked intellectual disability-retinitis pigmentosa syndrome -MONDO:0868910 autosomal recessive kenny-caffey syndrome GARD:8367 MONDO:equivalentTo Autosomal recessive Kenny-Caffey syndrome -MONDO:0868911 congenital lactic acidosis, saguenay-lac-saint-jean type GARD:8370 MONDO:equivalentTo Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type -MONDO:0868912 autosomal recessive polycystic kidney disease GARD:8378 MONDO:equivalentTo Autosomal recessive polycystic kidney disease -MONDO:0868913 bazex-dupré-christol syndrome GARD:838 MONDO:equivalentTo Bazex-Dupré-Christol syndrome -MONDO:0868914 generalized arterial calcification of infancy GARD:8380 MONDO:equivalentTo Generalized arterial calcification of infancy -MONDO:0868915 3-hydroxy-3-methylglutaric aciduria GARD:8387 MONDO:equivalentTo 3-hydroxy-3-methylglutaric aciduria -MONDO:0868916 ornithine transcarbamylase deficiency GARD:8391 MONDO:equivalentTo Ornithine transcarbamylase deficiency -MONDO:0868917 brain demyelination due to methionine adenosyltransferase deficiency GARD:8397 MONDO:equivalentTo Brain demyelination due to methionine adenosyltransferase deficiency -MONDO:0868918 feingold syndrome GARD:8407 MONDO:equivalentTo Feingold syndrome -MONDO:0868919 postaxial acrofacial dysostosis GARD:8410 MONDO:equivalentTo Postaxial acrofacial dysostosis -MONDO:0868920 van der woude syndrome GARD:8414 MONDO:equivalentTo Van der Woude syndrome -MONDO:0868921 focal facial dermal dysplasia GARD:8416 MONDO:equivalentTo Focal facial dermal dysplasia -MONDO:0868922 isolated optic nerve hypoplasia/aplasia GARD:8419 MONDO:equivalentTo Isolated optic nerve hypoplasia/aplasia -MONDO:0868923 ankylosing vertebral hyperostosis with tylosis GARD:842 MONDO:equivalentTo Ankylosing vertebral hyperostosis with tylosis -MONDO:0868924 tetrasomy 12p GARD:8421 MONDO:equivalentTo Tetrasomy 12p -MONDO:0868925 peters plus syndrome GARD:8422 MONDO:equivalentTo Peters plus syndrome -MONDO:0868926 richards-rundle syndrome GARD:8423 MONDO:equivalentTo Richards-Rundle syndrome -MONDO:0868927 iminoglycinuria GARD:8424 MONDO:equivalentTo Iminoglycinuria -MONDO:0868928 thyroid hypoplasia GARD:8426 MONDO:equivalentTo Thyroid hypoplasia -MONDO:0868929 immunodeficiency by defective expression of mhc class i GARD:8427 MONDO:equivalentTo Immunodeficiency by defective expression of MHC class I -MONDO:0868930 crane-heise syndrome GARD:8428 MONDO:equivalentTo Crane-Heise syndrome -MONDO:0868931 native american myopathy GARD:8432 MONDO:equivalentTo Native American myopathy -MONDO:0868932 king-denborough syndrome GARD:8433 MONDO:equivalentTo King-Denborough syndrome -MONDO:0868933 persistent müllerian duct syndrome GARD:8435 MONDO:equivalentTo Persistent Müllerian duct syndrome -MONDO:0868934 frontotemporal dementia GARD:8436 MONDO:equivalentTo Frontotemporal dementia -MONDO:0868935 isolated anterior cervical hypertrichosis GARD:8438 MONDO:equivalentTo Isolated anterior cervical hypertrichosis -MONDO:0868936 keutel syndrome GARD:8449 MONDO:equivalentTo Keutel syndrome -MONDO:0868937 tumor necrosis factor receptor 1 associated periodic syndrome GARD:8457 MONDO:equivalentTo Tumor necrosis factor receptor 1 associated periodic syndrome -MONDO:0868938 beemer-ertbruggen syndrome GARD:846 MONDO:equivalentTo Beemer-Ertbruggen syndrome -MONDO:0868939 autoimmune polyendocrinopathy type 1 GARD:8466 MONDO:equivalentTo Autoimmune polyendocrinopathy type 1 -MONDO:0868940 melanoma and neural system tumor syndrome GARD:8468 MONDO:equivalentTo Melanoma and neural system tumor syndrome -MONDO:0868941 x-linked recessive ocular albinism GARD:8471 MONDO:equivalentTo X-linked recessive ocular albinism -MONDO:0868942 muckle-wells syndrome GARD:8472 MONDO:equivalentTo Muckle-Wells syndrome -MONDO:0868943 leber plus disease GARD:8476 MONDO:equivalentTo Leber plus disease -MONDO:0868944 familial multiple discoid fibromas GARD:8479 MONDO:equivalentTo Familial multiple discoid fibromas -MONDO:0868945 behçet disease GARD:848 MONDO:equivalentTo Behçet disease -MONDO:0868946 autosomal recessive cutis laxa type 1 GARD:8480 MONDO:equivalentTo Autosomal recessive cutis laxa type 1 -MONDO:0868947 acropectoral syndrome GARD:8485 MONDO:equivalentTo Acropectoral syndrome -MONDO:0868948 musculocontractural ehlers-danlos syndrome GARD:8486 MONDO:equivalentTo Musculocontractural Ehlers-Danlos syndrome -MONDO:0868949 infantile digital fibromatosis GARD:8487 MONDO:equivalentTo Infantile digital fibromatosis -MONDO:0868950 familial papillary or follicular thyroid carcinoma GARD:8488 MONDO:equivalentTo Familial papillary or follicular thyroid carcinoma -MONDO:0868951 african iron overload GARD:8495 MONDO:equivalentTo African iron overload -MONDO:0868952 thanatophoric dysplasia GARD:85 MONDO:equivalentTo Thanatophoric dysplasia -MONDO:0868953 white sponge nevus GARD:8501 MONDO:equivalentTo White sponge nevus -MONDO:0868954 x-linked ehlers-danlos syndrome GARD:8505 MONDO:equivalentTo X-linked Ehlers-Danlos syndrome -MONDO:0868955 classical-like ehlers-danlos syndrome type 1 GARD:8507 MONDO:equivalentTo Classical-like Ehlers-Danlos syndrome type 1 -MONDO:0868956 aredyld syndrome GARD:8509 MONDO:equivalentTo AREDYLD syndrome -MONDO:0868957 huriez syndrome GARD:8517 MONDO:equivalentTo Huriez syndrome -MONDO:0868958 x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome GARD:8520 MONDO:equivalentTo X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome -MONDO:0868959 infantile-onset x-linked spinal muscular atrophy GARD:8521 MONDO:equivalentTo Infantile-onset X-linked spinal muscular atrophy -MONDO:0868960 diffuse panbronchiolitis GARD:8526 MONDO:equivalentTo Diffuse panbronchiolitis -MONDO:0868961 hellp syndrome GARD:8528 MONDO:equivalentTo HELLP syndrome -MONDO:0868962 macrodactyly of fingers GARD:8529 MONDO:equivalentTo Macrodactyly of fingers -MONDO:0868963 cloverleaf skull-asphyxiating thoracic dysplasia syndrome GARD:853 MONDO:equivalentTo Cloverleaf skull-asphyxiating thoracic dysplasia syndrome -MONDO:0868964 male infertility with azoospermia or oligozoospermia due to single gene mutation GARD:8530 MONDO:equivalentTo Male infertility with azoospermia or oligozoospermia due to single gene mutation -MONDO:0868965 attenuated familial adenomatous polyposis GARD:8532 MONDO:equivalentTo Attenuated familial adenomatous polyposis -MONDO:0868966 hereditary nonpolyposis colon cancer GARD:8533 MONDO:equivalentTo Hereditary nonpolyposis colon cancer -MONDO:0868967 congenital central hypoventilation syndrome GARD:8535 MONDO:equivalentTo Congenital central hypoventilation syndrome -MONDO:0868968 46,xy disorder of sex development GARD:8538 MONDO:equivalentTo 46,XY disorder of sex development -MONDO:0868969 urocanic aciduria GARD:8539 MONDO:equivalentTo Urocanic aciduria -MONDO:0868970 primary progressive aphasia GARD:8541 MONDO:equivalentTo Primary progressive aphasia -MONDO:0868971 chondrodysplasia punctata GARD:8542 MONDO:equivalentTo Chondrodysplasia punctata -MONDO:0868972 gitelman syndrome GARD:8547 MONDO:equivalentTo Gitelman syndrome -MONDO:0868973 charcot-marie-tooth disease type 2b1 GARD:8548 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2B1 -MONDO:0868974 moebius syndrome GARD:8549 MONDO:equivalentTo Moebius syndrome -MONDO:0868975 dermatopathia pigmentosa reticularis GARD:8550 MONDO:equivalentTo Dermatopathia pigmentosa reticularis -MONDO:0868976 infantile convulsions and choreoathetosis GARD:8553 MONDO:equivalentTo Infantile convulsions and choreoathetosis -MONDO:0868977 dense deposit disease GARD:8555 MONDO:equivalentTo Dense deposit disease -MONDO:0868978 seckel syndrome GARD:8562 MONDO:equivalentTo Seckel syndrome -MONDO:0868979 primary orthostatic tremor GARD:8563 MONDO:equivalentTo Primary orthostatic tremor -MONDO:0868980 benign familial infantile epilepsy GARD:857 MONDO:equivalentTo Benign familial infantile epilepsy -MONDO:0868981 steroid-responsive encephalopathy associated with autoimmune thyroiditis GARD:8570 MONDO:equivalentTo Steroid-responsive encephalopathy associated with autoimmune thyroiditis -MONDO:0868982 delta-sarcoglycan-related limb-girdle muscular dystrophy r6 GARD:8573 MONDO:equivalentTo Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 -MONDO:0868983 dysferlin-related limb-girdle muscular dystrophy r2 GARD:8574 MONDO:equivalentTo Dysferlin-related limb-girdle muscular dystrophy R2 -MONDO:0868984 panuveitis GARD:8577 MONDO:equivalentTo Panuveitis -MONDO:0868985 vitamin k antagonist embryofetopathy GARD:8580 MONDO:equivalentTo Vitamin K antagonist embryofetopathy -MONDO:0868986 isolated hereditary congenital facial paralysis GARD:8583 MONDO:equivalentTo Isolated hereditary congenital facial paralysis -MONDO:0868987 cantú syndrome GARD:8585 MONDO:equivalentTo Cantú syndrome -MONDO:0868988 cardiocranial syndrome, pfeiffer type GARD:8586 MONDO:equivalentTo Cardiocranial syndrome, Pfeiffer type -MONDO:0868989 spinal muscular atrophy with respiratory distress type 1 GARD:8592 MONDO:equivalentTo Spinal muscular atrophy with respiratory distress type 1 -MONDO:0868990 morgagni-stewart-morel syndrome GARD:8593 MONDO:equivalentTo Morgagni-Stewart-Morel syndrome -MONDO:0868991 ataxia with vitamin e deficiency GARD:8595 MONDO:equivalentTo Ataxia with vitamin E deficiency -MONDO:0868992 gastrointestinal stromal tumor GARD:8598 MONDO:equivalentTo Gastrointestinal stromal tumor -MONDO:0868993 chudley-mccullough syndrome GARD:86 MONDO:equivalentTo Chudley-McCullough syndrome -MONDO:0868994 cryptorchidism-arachnodactyly-intellectual disability syndrome GARD:860 MONDO:equivalentTo Cryptorchidism-arachnodactyly-intellectual disability syndrome -MONDO:0868995 saldino-mainzer syndrome GARD:8600 MONDO:equivalentTo Saldino-Mainzer syndrome -MONDO:0868996 acquired angioedema GARD:8605 MONDO:equivalentTo Acquired angioedema -MONDO:0868997 amish lethal microcephaly GARD:8606 MONDO:equivalentTo Amish lethal microcephaly -MONDO:0868998 idiopathic pulmonary fibrosis GARD:8609 MONDO:equivalentTo Idiopathic pulmonary fibrosis -MONDO:0868999 harlequin syndrome GARD:8610 MONDO:equivalentTo Harlequin syndrome -MONDO:0869000 sickle cell anemia GARD:8614 MONDO:equivalentTo Sickle cell anemia -MONDO:0869001 systemic mastocytosis GARD:8616 MONDO:equivalentTo Systemic mastocytosis -MONDO:0869002 primary myelofibrosis GARD:8618 MONDO:equivalentTo Primary myelofibrosis -MONDO:0869003 uveal melanoma GARD:8621 MONDO:equivalentTo Uveal melanoma -MONDO:0869004 good syndrome GARD:8622 MONDO:equivalentTo Good syndrome -MONDO:0869005 microcephaly-cleft palate-abnormal retinal pigmentation syndrome GARD:8623 MONDO:equivalentTo Microcephaly-cleft palate-abnormal retinal pigmentation syndrome -MONDO:0869006 reticular dysgenesis GARD:8625 MONDO:equivalentTo Reticular dysgenesis -MONDO:0869007 monosomy 18p GARD:8631 MONDO:equivalentTo Monosomy 18p -MONDO:0869008 acute leukemia of ambiguous lineage GARD:8638 MONDO:equivalentTo Acute leukemia of ambiguous lineage -MONDO:0869009 acute disseminated encephalomyelitis GARD:8639 MONDO:equivalentTo Acute disseminated encephalomyelitis -MONDO:0869010 acute zonal occult outer retinopathy GARD:8640 MONDO:equivalentTo Acute zonal occult outer retinopathy -MONDO:0869011 congenital alveolar capillary dysplasia GARD:8644 MONDO:equivalentTo Congenital alveolar capillary dysplasia -MONDO:0869012 erythema elevatum diutinum GARD:8653 MONDO:equivalentTo Erythema elevatum diutinum -MONDO:0869013 fibular hemimelia GARD:8659 MONDO:equivalentTo Fibular hemimelia -MONDO:0869014 gerstmann syndrome GARD:8660 MONDO:equivalentTo Gerstmann syndrome -MONDO:0869015 gastroschisis GARD:8661 MONDO:equivalentTo Gastroschisis -MONDO:0869016 auriculoosteodysplasia GARD:8663 MONDO:equivalentTo Auriculoosteodysplasia -MONDO:0869017 chronic beryllium disease GARD:867 MONDO:equivalentTo Chronic beryllium disease -MONDO:0869018 kleefstra syndrome GARD:8672 MONDO:equivalentTo Kleefstra syndrome -MONDO:0869019 crigler-najjar syndrome type 2 GARD:8683 MONDO:equivalentTo Crigler-Najjar syndrome type 2 -MONDO:0869020 autoimmune lymphoproliferative syndrome GARD:8686 MONDO:equivalentTo Autoimmune lymphoproliferative syndrome -MONDO:0869021 severe immune-mediated enteropathy GARD:8689 MONDO:equivalentTo Severe immune-mediated enteropathy -MONDO:0869022 beta-mannosidosis GARD:869 MONDO:equivalentTo Beta-mannosidosis -MONDO:0869023 whooping cough GARD:8692 MONDO:equivalentTo Whooping cough -MONDO:0869024 osteogenesis imperfecta type 1 GARD:8694 MONDO:equivalentTo Osteogenesis imperfecta type 1 -MONDO:0869025 osteogenesis imperfecta type 3 GARD:8695 MONDO:equivalentTo Osteogenesis imperfecta type 3 -MONDO:0869026 osteogenesis imperfecta type 4 GARD:8696 MONDO:equivalentTo Osteogenesis imperfecta type 4 -MONDO:0869027 gnathodiaphyseal dysplasia GARD:8698 MONDO:equivalentTo Gnathodiaphyseal dysplasia -MONDO:0869028 osteogenesis imperfecta type 5 GARD:8699 MONDO:equivalentTo Osteogenesis imperfecta type 5 -MONDO:0869029 microphthalmia, lenz type GARD:87 MONDO:equivalentTo Microphthalmia, Lenz type -MONDO:0869030 atypical hemolytic uremic syndrome GARD:8702 MONDO:equivalentTo Atypical hemolytic uremic syndrome -MONDO:0869031 primary angiitis of the central nervous system GARD:8703 MONDO:equivalentTo Primary angiitis of the central nervous system -MONDO:0869032 tibial hemimelia GARD:8707 MONDO:equivalentTo Tibial hemimelia -MONDO:0869033 patella aplasia/hypoplasia GARD:8709 MONDO:equivalentTo Patella aplasia/hypoplasia -MONDO:0869034 beta-thalassemia GARD:871 MONDO:equivalentTo Beta-thalassemia -MONDO:0869035 spheroid body myopathy GARD:8711 MONDO:equivalentTo Spheroid body myopathy -MONDO:0869036 achondrogenesis type 2 GARD:8713 MONDO:equivalentTo Achondrogenesis type 2 -MONDO:0869037 odontochondrodysplasia GARD:8717 MONDO:equivalentTo Odontochondrodysplasia -MONDO:0869038 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome GARD:8719 MONDO:equivalentTo Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome -MONDO:0869039 beta-ketothiolase deficiency GARD:872 MONDO:equivalentTo Beta-ketothiolase deficiency -MONDO:0869040 axial spondylometaphyseal dysplasia GARD:8720 MONDO:equivalentTo Axial spondylometaphyseal dysplasia -MONDO:0869041 paroxysmal kinesigenic dyskinesia GARD:8721 MONDO:equivalentTo Paroxysmal kinesigenic dyskinesia -MONDO:0869042 paroxysmal non-kinesigenic dyskinesia GARD:8722 MONDO:equivalentTo Paroxysmal non-kinesigenic dyskinesia -MONDO:0869043 myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality GARD:8723 MONDO:equivalentTo Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality -MONDO:0869044 bethlem myopathy GARD:873 MONDO:equivalentTo Bethlem myopathy -MONDO:0869045 hemophilia b GARD:8732 MONDO:equivalentTo Hemophilia B -MONDO:0869046 childhood-onset hypophosphatasia GARD:8735 MONDO:equivalentTo Childhood-onset hypophosphatasia -MONDO:0869047 idiopathic hypersomnia GARD:8737 MONDO:equivalentTo Idiopathic hypersomnia -MONDO:0869048 greenberg dysplasia GARD:8754 MONDO:equivalentTo Greenberg dysplasia -MONDO:0869049 arrhinia-choanal atresia-microphthalmia syndrome GARD:8755 MONDO:equivalentTo Arrhinia-choanal atresia-microphthalmia syndrome -MONDO:0869050 lethal ataxia with deafness and optic atrophy GARD:8756 MONDO:equivalentTo Lethal ataxia with deafness and optic atrophy -MONDO:0869051 pleuropulmonary blastoma GARD:8757 MONDO:equivalentTo Pleuropulmonary blastoma -MONDO:0869052 ocular cicatricial pemphigoid GARD:8759 MONDO:equivalentTo Ocular cicatricial pemphigoid -MONDO:0869053 leri pleonosteosis GARD:88 MONDO:equivalentTo Leri pleonosteosis -MONDO:0869054 biemond syndrome type 2 GARD:882 MONDO:equivalentTo Biemond syndrome type 2 -MONDO:0869055 bifid nose GARD:884 MONDO:equivalentTo Bifid nose -MONDO:0869056 fallot complex-intellectual disability-growth delay syndrome GARD:893 MONDO:equivalentTo Fallot complex-intellectual disability-growth delay syndrome -MONDO:0869057 biotinidase deficiency GARD:894 MONDO:equivalentTo Biotinidase deficiency -MONDO:0869058 microcephalic primordial dwarfism, montreal type GARD:895 MONDO:equivalentTo Microcephalic primordial dwarfism, Montreal type -MONDO:0869059 hypertelorism-microtia-facial clefting syndrome GARD:897 MONDO:equivalentTo Hypertelorism-microtia-facial clefting syndrome -MONDO:0869060 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome GARD:905 MONDO:equivalentTo Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome -MONDO:0869061 primary fanconi renotubular syndrome GARD:9118 MONDO:equivalentTo Primary Fanconi renotubular syndrome -MONDO:0869062 pulmonary agenesis GARD:9119 MONDO:equivalentTo Pulmonary agenesis -MONDO:0869063 blepharoptosis-myopia-ectopia lentis syndrome GARD:912 MONDO:equivalentTo Blepharoptosis-myopia-ectopia lentis syndrome -MONDO:0869064 treacher-collins syndrome GARD:9124 MONDO:equivalentTo Treacher-Collins syndrome -MONDO:0869065 agnathia-holoprosencephaly-situs inversus syndrome GARD:9126 MONDO:equivalentTo Agnathia-holoprosencephaly-situs inversus syndrome -MONDO:0869066 idiopathic inflammatory myopathy GARD:9128 MONDO:equivalentTo Idiopathic inflammatory myopathy -MONDO:0869067 congenital muscular dystrophy GARD:9138 MONDO:equivalentTo Congenital muscular dystrophy -MONDO:0869068 blomstrand lethal chondrodysplasia GARD:914 MONDO:equivalentTo Blomstrand lethal chondrodysplasia -MONDO:0869069 eosinophilic gastroenteritis GARD:9142 MONDO:equivalentTo Eosinophilic gastroenteritis -MONDO:0869070 renal pseudohypoaldosteronism type 1 GARD:9145 MONDO:equivalentTo Renal pseudohypoaldosteronism type 1 -MONDO:0869071 cardiofaciocutaneous syndrome GARD:9146 MONDO:equivalentTo Cardiofaciocutaneous syndrome -MONDO:0869072 bloom syndrome GARD:915 MONDO:equivalentTo Bloom syndrome -MONDO:0869073 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency GARD:9152 MONDO:equivalentTo Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency -MONDO:0869074 syndromic x-linked intellectual disability 7 GARD:9156 MONDO:equivalentTo Syndromic X-linked intellectual disability 7 -MONDO:0869075 x-linked intellectual disability, abidi type GARD:9157 MONDO:equivalentTo X-linked intellectual disability, Abidi type -MONDO:0869076 brody myopathy GARD:9158 MONDO:equivalentTo Brody myopathy -MONDO:0869077 blount disease GARD:916 MONDO:equivalentTo Blount disease -MONDO:0869078 alpha-n-acetylgalactosaminidase deficiency type 2 GARD:9161 MONDO:equivalentTo Alpha-N-acetylgalactosaminidase deficiency type 2 -MONDO:0869079 roifman syndrome GARD:9163 MONDO:equivalentTo Roifman syndrome -MONDO:0869080 rippling muscle disease GARD:9164 MONDO:equivalentTo Rippling muscle disease -MONDO:0869081 familial expansile osteolysis GARD:9168 MONDO:equivalentTo Familial expansile osteolysis -MONDO:0869082 adan amyloidosis GARD:9169 MONDO:equivalentTo ADan amyloidosis -MONDO:0869083 blue cone monochromatism GARD:917 MONDO:equivalentTo Blue cone monochromatism -MONDO:0869084 hypotrichosis simplex GARD:9170 MONDO:equivalentTo Hypotrichosis simplex -MONDO:0869085 kufor-rakeb syndrome GARD:9174 MONDO:equivalentTo Kufor-Rakeb syndrome -MONDO:0869086 parkinsonian-pyramidal syndrome GARD:9175 MONDO:equivalentTo Parkinsonian-pyramidal syndrome -MONDO:0869087 pyogenic arthritis-pyoderma gangrenosum-acne syndrome GARD:9176 MONDO:equivalentTo Pyogenic arthritis-pyoderma gangrenosum-acne syndrome -MONDO:0869088 lethal congenital contracture syndrome type 2 GARD:9177 MONDO:equivalentTo Lethal congenital contracture syndrome type 2 -MONDO:0869089 mehmo syndrome GARD:9178 MONDO:equivalentTo MEHMO syndrome -MONDO:0869090 north carolina macular dystrophy GARD:9179 MONDO:equivalentTo North Carolina macular dystrophy -MONDO:0869091 brachymorphism-onychodysplasia-dysphalangism syndrome GARD:918 MONDO:equivalentTo Brachymorphism-onychodysplasia-dysphalangism syndrome -MONDO:0869092 primary membranous glomerulonephritis GARD:9180 MONDO:equivalentTo Primary membranous glomerulonephritis -MONDO:0869093 familial abdominal aortic aneurysm GARD:9181 MONDO:equivalentTo Familial abdominal aortic aneurysm -MONDO:0869094 okihiro syndrome GARD:9182 MONDO:equivalentTo Okihiro syndrome -MONDO:0869095 progressive pseudorheumatoid arthropathy of childhood GARD:9184 MONDO:equivalentTo Progressive pseudorheumatoid arthropathy of childhood -MONDO:0869096 mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency GARD:9185 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency -MONDO:0869097 charcot-marie-tooth disease type 1d GARD:9189 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1D -MONDO:0869098 charcot-marie-tooth disease type 1e GARD:9190 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1E -MONDO:0869099 charcot-marie-tooth disease type 1f GARD:9191 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1F -MONDO:0869100 autosomal dominant charcot-marie-tooth disease type 2b GARD:9192 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2B -MONDO:0869101 autosomal dominant charcot-marie-tooth disease type 2e GARD:9193 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2E -MONDO:0869102 autosomal dominant charcot-marie-tooth disease type 2f GARD:9194 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2F -MONDO:0869103 autosomal dominant charcot-marie-tooth disease type 2g GARD:9195 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2G -MONDO:0869104 charcot-marie-tooth disease type 2h GARD:9196 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2H -MONDO:0869105 autosomal dominant charcot-marie-tooth disease type 2i GARD:9197 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2I -MONDO:0869106 autosomal dominant charcot-marie-tooth disease type 2j GARD:9198 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2J -MONDO:0869107 autosomal dominant charcot-marie-tooth disease type 2k GARD:9199 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2K -MONDO:0869108 mal de meleda GARD:92 MONDO:equivalentTo Mal de Meleda -MONDO:0869109 charcot-marie-tooth disease type 4b2 GARD:9200 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4B2 -MONDO:0869110 charcot-marie-tooth disease type 4c GARD:9201 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4C -MONDO:0869111 charcot-marie-tooth disease type 4e GARD:9203 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4E -MONDO:0869112 dejerine-sottas syndrome GARD:9204 MONDO:equivalentTo Dejerine-Sottas syndrome -MONDO:0869113 autosomal dominant intermediate charcot-marie-tooth disease type f GARD:9206 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease type F -MONDO:0869114 autosomal dominant intermediate charcot-marie-tooth disease type d GARD:9207 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease type D -MONDO:0869115 hereditary motor and sensory neuropathy type 5 GARD:9208 MONDO:equivalentTo Hereditary motor and sensory neuropathy type 5 -MONDO:0869116 thiamine-responsive megaloblastic anemia syndrome GARD:9210 MONDO:equivalentTo Thiamine-responsive megaloblastic anemia syndrome -MONDO:0869117 phocomelia, schinzel type GARD:9212 MONDO:equivalentTo Phocomelia, Schinzel type -MONDO:0869118 lymphedema-cerebral arteriovenous anomaly syndrome GARD:9217 MONDO:equivalentTo Lymphedema-cerebral arteriovenous anomaly syndrome -MONDO:0869119 bone dysplasia, lethal holmgren type GARD:922 MONDO:equivalentTo Bone dysplasia, lethal Holmgren type -MONDO:0869120 tarsal-carpal coalition syndrome GARD:9225 MONDO:equivalentTo Tarsal-carpal coalition syndrome -MONDO:0869121 renal agenesis GARD:9228 MONDO:equivalentTo Renal agenesis -MONDO:0869122 arnold-chiari malformation type ii GARD:9232 MONDO:equivalentTo Arnold-Chiari malformation type II -MONDO:0869123 arnold-chiari malformation type i GARD:9233 MONDO:equivalentTo Arnold-Chiari malformation type I -MONDO:0869124 severe acute respiratory syndrome GARD:9237 MONDO:equivalentTo Severe acute respiratory syndrome -MONDO:0869125 parkinson-dementia complex of guam GARD:9239 MONDO:equivalentTo Parkinson-dementia complex of Guam -MONDO:0869126 familial advanced sleep-phase syndrome GARD:9242 MONDO:equivalentTo Familial advanced sleep-phase syndrome -MONDO:0869127 primary effusion lymphoma GARD:9247 MONDO:equivalentTo Primary effusion lymphoma -MONDO:0869128 tubulointerstitial nephritis and uveitis syndrome GARD:9252 MONDO:equivalentTo Tubulointerstitial nephritis and uveitis syndrome -MONDO:0869129 early infantile epileptic encephalopathy GARD:9255 MONDO:equivalentTo Early infantile epileptic encephalopathy -MONDO:0869130 sunct syndrome GARD:9257 MONDO:equivalentTo SUNCT syndrome -MONDO:0869131 perineural cyst GARD:9258 MONDO:equivalentTo Perineural cyst -MONDO:0869132 classic glucose transporter type 1 deficiency syndrome GARD:9265 MONDO:equivalentTo Classic glucose transporter type 1 deficiency syndrome -MONDO:0869133 cutaneous neuroendocrine carcinoma GARD:9266 MONDO:equivalentTo Cutaneous neuroendocrine carcinoma -MONDO:0869134 thiel-behnke corneal dystrophy GARD:9275 MONDO:equivalentTo Thiel-Behnke corneal dystrophy -MONDO:0869135 reis-bücklers corneal dystrophy GARD:9276 MONDO:equivalentTo Reis-Bücklers corneal dystrophy -MONDO:0869136 schnyder corneal dystrophy GARD:9277 MONDO:equivalentTo Schnyder corneal dystrophy -MONDO:0869137 granular corneal dystrophy type ii GARD:9278 MONDO:equivalentTo Granular corneal dystrophy type II -MONDO:0869138 formiminoglutamic aciduria GARD:9279 MONDO:equivalentTo Formiminoglutamic aciduria -MONDO:0869139 cholestasis-pigmentary retinopathy-cleft palate syndrome GARD:9280 MONDO:equivalentTo Cholestasis-pigmentary retinopathy-cleft palate syndrome -MONDO:0869140 familial atypical multiple mole melanoma syndrome GARD:9281 MONDO:equivalentTo Familial atypical multiple mole melanoma syndrome -MONDO:0869141 white platelet syndrome GARD:9282 MONDO:equivalentTo White platelet syndrome -MONDO:0869142 ataxia-oculomotor apraxia type 1 GARD:9283 MONDO:equivalentTo Ataxia-oculomotor apraxia type 1 -MONDO:0869143 amoebic keratitis GARD:9285 MONDO:equivalentTo Amoebic keratitis -MONDO:0869144 atelosteogenesis type i GARD:9287 MONDO:equivalentTo Atelosteogenesis type I -MONDO:0869145 x-linked intellectual disability, schimke type GARD:9288 MONDO:equivalentTo X-linked intellectual disability, Schimke type -MONDO:0869146 microphthalmia-brain atrophy syndrome GARD:9292 MONDO:equivalentTo Microphthalmia-brain atrophy syndrome -MONDO:0869147 timothy syndrome GARD:9294 MONDO:equivalentTo Timothy syndrome -MONDO:0869148 thanatophoric dysplasia type 1 GARD:9295 MONDO:equivalentTo Thanatophoric dysplasia type 1 -MONDO:0869149 autosomal recessive spastic paraplegia type 24 GARD:9296 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 24 -MONDO:0869150 whim syndrome GARD:9297 MONDO:equivalentTo WHIM syndrome -MONDO:0869151 pyridoxine-dependent epilepsy GARD:9298 MONDO:equivalentTo Pyridoxine-dependent epilepsy -MONDO:0869152 acute ackee fruit intoxication GARD:9299 MONDO:equivalentTo Acute ackee fruit intoxication -MONDO:0869153 monilethrix GARD:93 MONDO:equivalentTo Monilethrix -MONDO:0869154 cholangiocarcinoma GARD:9304 MONDO:equivalentTo Cholangiocarcinoma -MONDO:0869155 neuroendocrine neoplasm GARD:9316 MONDO:equivalentTo Neuroendocrine neoplasm -MONDO:0869156 primary central nervous system lymphoma GARD:9318 MONDO:equivalentTo Primary central nervous system lymphoma -MONDO:0869157 myeloproliferative neoplasm GARD:9319 MONDO:equivalentTo Myeloproliferative neoplasm -MONDO:0869158 böök syndrome GARD:932 MONDO:equivalentTo Böök syndrome -MONDO:0869159 extragonadal germ cell tumor GARD:9325 MONDO:equivalentTo Extragonadal germ cell tumor -MONDO:0869160 boomerang dysplasia GARD:933 MONDO:equivalentTo Boomerang dysplasia -MONDO:0869161 malignant germ cell tumor of ovary GARD:9330 MONDO:equivalentTo Malignant germ cell tumor of ovary -MONDO:0869162 pediatric hepatocellular carcinoma GARD:9331 MONDO:equivalentTo Pediatric hepatocellular carcinoma -MONDO:0869163 small cell lung cancer GARD:9344 MONDO:equivalentTo Small cell lung cancer -MONDO:0869164 vaginal carcinoma GARD:9348 MONDO:equivalentTo Vaginal carcinoma -MONDO:0869165 vulvar carcinoma GARD:9349 MONDO:equivalentTo Vulvar carcinoma -MONDO:0869166 myelodysplastic/myeloproliferative disease GARD:9351 MONDO:equivalentTo Myelodysplastic/myeloproliferative disease -MONDO:0869167 borjeson-forssman-lehmann syndrome GARD:936 MONDO:equivalentTo Borjeson-Forssman-Lehmann syndrome -MONDO:0869168 malignant epithelial tumor of ovary GARD:9362 MONDO:equivalentTo Malignant epithelial tumor of ovary -MONDO:0869169 borderline epithelial tumor of ovary GARD:9363 MONDO:equivalentTo Borderline epithelial tumor of ovary -MONDO:0869170 rare tumor of pancreas GARD:9364 MONDO:equivalentTo Rare tumor of pancreas -MONDO:0869171 malignant tumor of penis GARD:9366 MONDO:equivalentTo Malignant tumor of penis -MONDO:0869172 pineoblastoma GARD:9369 MONDO:equivalentTo Pineoblastoma -MONDO:0869173 pituitary carcinoma GARD:9371 MONDO:equivalentTo Pituitary carcinoma -MONDO:0869174 plasma cell leukemia GARD:9373 MONDO:equivalentTo Plasma cell leukemia -MONDO:0869175 upper tract urothelial carcinoma GARD:9376 MONDO:equivalentTo Upper tract urothelial carcinoma -MONDO:0869176 tricho-retino-dento-digital syndrome GARD:938 MONDO:equivalentTo Tricho-retino-dento-digital syndrome -MONDO:0869177 mucolipidosis type iv GARD:94 MONDO:equivalentTo Mucolipidosis type IV -MONDO:0869178 tako-tsubo cardiomyopathy GARD:9400 MONDO:equivalentTo Tako-Tsubo cardiomyopathy -MONDO:0869179 phyllodes tumor of the prostate GARD:9404 MONDO:equivalentTo Phyllodes tumor of the prostate -MONDO:0869180 x-linked cerebral adrenoleukodystrophy GARD:9412 MONDO:equivalentTo X-linked cerebral adrenoleukodystrophy -MONDO:0869181 cochleosaccular degeneration-cataract syndrome GARD:9418 MONDO:equivalentTo Cochleosaccular degeneration-cataract syndrome -MONDO:0869182 diphyllobothriasis GARD:942 MONDO:equivalentTo Diphyllobothriasis -MONDO:0869183 pierson syndrome GARD:9420 MONDO:equivalentTo Pierson syndrome -MONDO:0869184 rhizomelic chondrodysplasia punctata type 2 GARD:9429 MONDO:equivalentTo Rhizomelic chondrodysplasia punctata type 2 -MONDO:0869185 botulism GARD:943 MONDO:equivalentTo Botulism -MONDO:0869186 congenital thrombotic thrombocytopenic purpura GARD:9430 MONDO:equivalentTo Congenital thrombotic thrombocytopenic purpura -MONDO:0869187 organic aciduria GARD:9433 MONDO:equivalentTo Organic aciduria -MONDO:0869188 ataxia-hypogonadism-choroidal dystrophy syndrome GARD:944 MONDO:equivalentTo Ataxia-hypogonadism-choroidal dystrophy syndrome -MONDO:0869189 temple-baraitser syndrome GARD:9441 MONDO:equivalentTo Temple-Baraitser syndrome -MONDO:0869190 glycogen storage disease due to glycogen debranching enzyme deficiency GARD:9442 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency -MONDO:0869191 severe achondroplasia-developmental delay-acanthosis nigricans syndrome GARD:9443 MONDO:equivalentTo Severe achondroplasia-developmental delay-acanthosis nigricans syndrome -MONDO:0869192 marburg hemorrhagic fever GARD:9444 MONDO:equivalentTo Marburg hemorrhagic fever -MONDO:0869193 infantile neuronal ceroid lipofuscinosis GARD:9447 MONDO:equivalentTo Infantile neuronal ceroid lipofuscinosis -MONDO:0869194 camptodactyly of fingers GARD:9448 MONDO:equivalentTo Camptodactyly of fingers -MONDO:0869195 waterhouse-friderichsen syndrome GARD:9449 MONDO:equivalentTo Waterhouse-Friderichsen syndrome -MONDO:0869196 familial juvenile hypertrophy of the breast GARD:9450 MONDO:equivalentTo Familial juvenile hypertrophy of the breast -MONDO:0869197 pilomatrixoma GARD:9452 MONDO:equivalentTo Pilomatrixoma -MONDO:0869198 andersen-tawil syndrome GARD:9453 MONDO:equivalentTo Andersen-Tawil syndrome -MONDO:0869199 joubert syndrome with oculorenal defect GARD:9455 MONDO:equivalentTo Joubert syndrome with oculorenal defect -MONDO:0869200 x-linked sideroblastic anemia GARD:9456 MONDO:equivalentTo X-linked sideroblastic anemia -MONDO:0869201 isolated polycystic liver disease GARD:9457 MONDO:equivalentTo Isolated polycystic liver disease -MONDO:0869202 pseudodiastrophic dysplasia GARD:9463 MONDO:equivalentTo Pseudodiastrophic dysplasia -MONDO:0869203 anaplastic oligodendroglioma GARD:9472 MONDO:equivalentTo Anaplastic oligodendroglioma -MONDO:0869204 melorheostosis GARD:9474 MONDO:equivalentTo Melorheostosis -MONDO:0869205 vitamin b12-responsive methylmalonic acidemia type cblb GARD:9479 MONDO:equivalentTo Vitamin B12-responsive methylmalonic acidemia type cblB -MONDO:0869206 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis GARD:9481 MONDO:equivalentTo Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis -MONDO:0869207 superficial siderosis GARD:9484 MONDO:equivalentTo Superficial siderosis -MONDO:0869208 isolated congenital anosmia GARD:9486 MONDO:equivalentTo Isolated congenital anosmia -MONDO:0869209 cyprus facial-neuromusculoskeletal syndrome GARD:9487 MONDO:equivalentTo Cyprus facial-neuromusculoskeletal syndrome -MONDO:0869210 isolated congenital breast hypoplasia/aplasia GARD:9489 MONDO:equivalentTo Isolated congenital breast hypoplasia/aplasia -MONDO:0869211 gne myopathy GARD:9493 MONDO:equivalentTo GNE myopathy -MONDO:0869212 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome GARD:9494 MONDO:equivalentTo Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome -MONDO:0869213 hereditary renal hypouricemia GARD:9496 MONDO:equivalentTo Hereditary renal hypouricemia -MONDO:0869214 aceruloplasminemia GARD:9499 MONDO:equivalentTo Aceruloplasminemia -MONDO:0869215 mulibrey nanism GARD:95 MONDO:equivalentTo Mulibrey nanism -MONDO:0869216 hereditary geniospasm GARD:9501 MONDO:equivalentTo Hereditary geniospasm -MONDO:0869217 craniosynostosis-anal anomalies-porokeratosis syndrome GARD:9506 MONDO:equivalentTo Craniosynostosis-anal anomalies-porokeratosis syndrome -MONDO:0869218 cerulean cataract GARD:9508 MONDO:equivalentTo Cerulean cataract -MONDO:0869219 renpenning syndrome GARD:9509 MONDO:equivalentTo Renpenning syndrome -MONDO:0869220 histiocytoid cardiomyopathy GARD:9511 MONDO:equivalentTo Histiocytoid cardiomyopathy -MONDO:0869221 phyllodes tumor of the breast GARD:9514 MONDO:equivalentTo Phyllodes tumor of the breast -MONDO:0869222 bilateral multicystic dysplastic kidney GARD:9517 MONDO:equivalentTo Bilateral multicystic dysplastic kidney -MONDO:0869223 coccidioidomycosis GARD:9525 MONDO:equivalentTo Coccidioidomycosis -MONDO:0869224 cyclosporosis GARD:9528 MONDO:equivalentTo Cyclosporosis -MONDO:0869225 congenital bowing of long bones GARD:953 MONDO:equivalentTo Congenital bowing of long bones -MONDO:0869226 chronic epstein-barr virus infection syndrome GARD:9534 MONDO:equivalentTo Chronic Epstein-Barr virus infection syndrome -MONDO:0869227 familial cold urticaria GARD:9535 MONDO:equivalentTo Familial cold urticaria -MONDO:0869228 melioidosis GARD:9546 MONDO:equivalentTo Melioidosis -MONDO:0869229 branchioskeletogenital syndrome GARD:955 MONDO:equivalentTo Branchioskeletogenital syndrome -MONDO:0869230 variant creutzfeldt-jakob disease GARD:9550 MONDO:equivalentTo Variant Creutzfeldt-Jakob disease -MONDO:0869231 post-transplant lymphoproliferative disease GARD:9553 MONDO:equivalentTo Post-transplant lymphoproliferative disease -MONDO:0869232 rat-bite fever GARD:9557 MONDO:equivalentTo Rat-bite fever -MONDO:0869233 autosomal dominant severe congenital neutropenia GARD:9558 MONDO:equivalentTo Autosomal dominant severe congenital neutropenia -MONDO:0869234 bacterial toxic-shock syndrome GARD:9560 MONDO:equivalentTo Bacterial toxic-shock syndrome -MONDO:0869235 typhoid GARD:9564 MONDO:equivalentTo Typhoid -MONDO:0869236 igg4-related retroperitoneal fibrosis GARD:9568 MONDO:equivalentTo IgG4-related retroperitoneal fibrosis -MONDO:0869237 dermatofibrosarcoma protuberans GARD:9569 MONDO:equivalentTo Dermatofibrosarcoma protuberans -MONDO:0869238 specc1l-related hypertelorism syndrome GARD:957 MONDO:equivalentTo SPECC1L-related hypertelorism syndrome -MONDO:0869239 hereditary clear cell renal cell carcinoma GARD:9571 MONDO:equivalentTo Hereditary clear cell renal cell carcinoma -MONDO:0869240 papillary renal cell carcinoma GARD:9572 MONDO:equivalentTo Papillary renal cell carcinoma -MONDO:0869241 collecting duct carcinoma GARD:9573 MONDO:equivalentTo Collecting duct carcinoma -MONDO:0869242 clear cell renal carcinoma GARD:9574 MONDO:equivalentTo Clear cell renal carcinoma -MONDO:0869243 acute fatty liver of pregnancy GARD:9578 MONDO:equivalentTo Acute fatty liver of pregnancy -MONDO:0869244 aymé-gripp syndrome GARD:958 MONDO:equivalentTo Aymé-Gripp syndrome -MONDO:0869245 autosomal recessive spastic paraplegia type 15 GARD:9581 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 15 -MONDO:0869246 autosomal recessive spastic paraplegia type 25 GARD:9582 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 25 -MONDO:0869247 autosomal dominant spastic paraplegia type 9a GARD:9583 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 9A -MONDO:0869248 x-linked spastic paraplegia type 16 GARD:9585 MONDO:equivalentTo X-linked spastic paraplegia type 16 -MONDO:0869249 autosomal dominant spastic paraplegia type 12 GARD:9586 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 12 -MONDO:0869250 autosomal recessive spastic paraplegia type 26 GARD:9587 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 26 -MONDO:0869251 autosomal dominant spastic paraplegia type 19 GARD:9588 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 19 -MONDO:0869252 autosomal recessive spastic paraplegia type 14 GARD:9589 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 14 -MONDO:0869253 autosomal dominant spastic paraplegia type 10 GARD:9590 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 10 -MONDO:0869254 autosomal dominant spastic paraplegia type 8 GARD:9591 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 8 -MONDO:0869255 congenital atransferrinemia GARD:9595 MONDO:equivalentTo Congenital atransferrinemia -MONDO:0869256 brachydactylous dwarfism, mseleni type GARD:960 MONDO:equivalentTo Brachydactylous dwarfism, Mseleni type -MONDO:0869257 familial paroxysmal ataxia GARD:9602 MONDO:equivalentTo Familial paroxysmal ataxia -MONDO:0869258 spinocerebellar ataxia type 13 GARD:9611 MONDO:equivalentTo Spinocerebellar ataxia type 13 -MONDO:0869259 giant cell arteritis GARD:9615 MONDO:equivalentTo Giant cell arteritis -MONDO:0869260 autosomal dominant spastic paraplegia type 13 GARD:9616 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 13 -MONDO:0869261 acute erythroid leukemia GARD:9620 MONDO:equivalentTo Acute erythroid leukemia -MONDO:0869262 polyembryoma GARD:9621 MONDO:equivalentTo Polyembryoma -MONDO:0869263 rapid-onset dystonia-parkinsonism GARD:9628 MONDO:equivalentTo Rapid-onset dystonia-parkinsonism -MONDO:0869264 primary dystonia, dyt6 type GARD:9630 MONDO:equivalentTo Primary dystonia, DYT6 type -MONDO:0869265 odontoleukodystrophy GARD:9632 MONDO:equivalentTo Odontoleukodystrophy -MONDO:0869266 fetal akinesia deformation sequence GARD:9634 MONDO:equivalentTo Fetal akinesia deformation sequence -MONDO:0869267 pruritic urticarial papules and plaques of pregnancy GARD:9635 MONDO:equivalentTo Pruritic urticarial papules and plaques of pregnancy -MONDO:0869268 autosomal agammaglobulinemia GARD:9640 MONDO:equivalentTo Autosomal agammaglobulinemia -MONDO:0869269 pseudoxanthoma elasticum GARD:9643 MONDO:equivalentTo Pseudoxanthoma elasticum -MONDO:0869270 gelatinous drop-like corneal dystrophy GARD:9647 MONDO:equivalentTo Gelatinous drop-like corneal dystrophy -MONDO:0869271 oncogenic osteomalacia GARD:9652 MONDO:equivalentTo Oncogenic osteomalacia -MONDO:0869272 hydroa vacciniforme GARD:9654 MONDO:equivalentTo Hydroa vacciniforme -MONDO:0869273 anauxetic dysplasia GARD:9657 MONDO:equivalentTo Anauxetic dysplasia -MONDO:0869274 bartter syndrome type 3 GARD:9659 MONDO:equivalentTo Bartter syndrome type 3 -MONDO:0869275 brachydactyly-elbow wrist dysplasia syndrome GARD:966 MONDO:equivalentTo Brachydactyly-elbow wrist dysplasia syndrome -MONDO:0869276 gynandroblastoma GARD:9665 MONDO:equivalentTo Gynandroblastoma -MONDO:0869277 brachydactyly-arterial hypertension syndrome GARD:967 MONDO:equivalentTo Brachydactyly-arterial hypertension syndrome -MONDO:0869278 congenital factor xi deficiency GARD:9670 MONDO:equivalentTo Congenital factor XI deficiency -MONDO:0869279 mowat-wilson syndrome GARD:9673 MONDO:equivalentTo Mowat-Wilson syndrome -MONDO:0869280 isotretinoin-like syndrome GARD:9675 MONDO:equivalentTo Isotretinoin-like syndrome -MONDO:0869281 miyoshi myopathy GARD:9676 MONDO:equivalentTo Miyoshi myopathy -MONDO:0869282 granular corneal dystrophy type i GARD:9677 MONDO:equivalentTo Granular corneal dystrophy type I -MONDO:0869283 lattice corneal dystrophy type i GARD:9678 MONDO:equivalentTo Lattice corneal dystrophy type I -MONDO:0869284 temtamy preaxial brachydactyly syndrome GARD:9679 MONDO:equivalentTo Temtamy preaxial brachydactyly syndrome -MONDO:0869285 brachydactyly-long thumb syndrome GARD:968 MONDO:equivalentTo Brachydactyly-long thumb syndrome -MONDO:0869286 rhyns syndrome GARD:9681 MONDO:equivalentTo RHYNS syndrome -MONDO:0869287 rhizomelic chondrodysplasia punctata type 3 GARD:9682 MONDO:equivalentTo Rhizomelic chondrodysplasia punctata type 3 -MONDO:0869288 chylomicron retention disease GARD:9683 MONDO:equivalentTo Chylomicron retention disease -MONDO:0869289 sandifer syndrome GARD:9684 MONDO:equivalentTo Sandifer syndrome -MONDO:0869290 schistosomiasis GARD:9687 MONDO:equivalentTo Schistosomiasis -MONDO:0869291 meesmann corneal dystrophy GARD:9688 MONDO:equivalentTo Meesmann corneal dystrophy -MONDO:0869292 kienbock disease GARD:9690 MONDO:equivalentTo Kienbock disease -MONDO:0869293 congenital patella dislocation GARD:9692 MONDO:equivalentTo Congenital patella dislocation -MONDO:0869294 junctional epidermolysis bullosa with pyloric atresia GARD:9694 MONDO:equivalentTo Junctional epidermolysis bullosa with pyloric atresia -MONDO:0869295 ring dermoid of cornea GARD:9696 MONDO:equivalentTo Ring dermoid of cornea -MONDO:0869296 monomelic amyotrophy GARD:9697 MONDO:equivalentTo Monomelic amyotrophy -MONDO:0869297 recombinant 8 syndrome GARD:9698 MONDO:equivalentTo Recombinant 8 syndrome -MONDO:0869298 x-linked intellectual disability, siderius type GARD:9704 MONDO:equivalentTo X-linked intellectual disability, Siderius type -MONDO:0869299 ectodermal dysplasia-skin fragility syndrome GARD:9705 MONDO:equivalentTo Ectodermal dysplasia-skin fragility syndrome -MONDO:0869300 snowflake vitreoretinal degeneration GARD:9706 MONDO:equivalentTo Snowflake vitreoretinal degeneration -MONDO:0869301 familial cylindromatosis GARD:9707 MONDO:equivalentTo Familial cylindromatosis -MONDO:0869302 brachydactyly-nystagmus-cerebellar ataxia syndrome GARD:971 MONDO:equivalentTo Brachydactyly-nystagmus-cerebellar ataxia syndrome -MONDO:0869303 lathosterolosis GARD:9711 MONDO:equivalentTo Lathosterolosis -MONDO:0869304 griscelli syndrome type 3 GARD:9715 MONDO:equivalentTo Griscelli syndrome type 3 -MONDO:0869305 brachydactyly-preaxial hallux varus syndrome GARD:972 MONDO:equivalentTo Brachydactyly-preaxial hallux varus syndrome -MONDO:0869306 ectodermal dysplasia-sensorineural deafness syndrome GARD:9723 MONDO:equivalentTo Ectodermal dysplasia-sensorineural deafness syndrome -MONDO:0869307 nephrogenic systemic fibrosis GARD:9725 MONDO:equivalentTo Nephrogenic systemic fibrosis -MONDO:0869308 proximal myotonic myopathy GARD:9728 MONDO:equivalentTo Proximal myotonic myopathy -MONDO:0869309 autosomal dominant spastic paraplegia type 29 GARD:9729 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 29 -MONDO:0869310 glycogen storage disease due to lamp-2 deficiency GARD:9730 MONDO:equivalentTo Glycogen storage disease due to LAMP-2 deficiency -MONDO:0869311 epithelial basement membrane dystrophy GARD:9732 MONDO:equivalentTo Epithelial basement membrane dystrophy -MONDO:0869312 congenital non-bullous ichthyosiform erythroderma GARD:9736 MONDO:equivalentTo Congenital non-bullous ichthyosiform erythroderma -MONDO:0869313 epidermolysis bullosa simplex with mottled pigmentation GARD:9737 MONDO:equivalentTo Epidermolysis bullosa simplex with mottled pigmentation -MONDO:0869314 familial atrial fibrillation GARD:9740 MONDO:equivalentTo Familial atrial fibrillation -MONDO:0869315 neurological conditions associated with aminoacylase 1 deficiency GARD:9741 MONDO:equivalentTo Neurological conditions associated with aminoacylase 1 deficiency -MONDO:0869316 ankylostomiasis GARD:9742 MONDO:equivalentTo Ankylostomiasis -MONDO:0869317 atrophoderma vermiculata GARD:9744 MONDO:equivalentTo Atrophoderma vermiculata -MONDO:0869318 systemic sclerosis GARD:9748 MONDO:equivalentTo Systemic sclerosis -MONDO:0869319 limited systemic sclerosis GARD:9749 MONDO:equivalentTo Limited systemic sclerosis -MONDO:0869320 diffuse cutaneous systemic sclerosis GARD:9751 MONDO:equivalentTo Diffuse cutaneous systemic sclerosis -MONDO:0869321 infantile nephropathic cystinosis GARD:9755 MONDO:equivalentTo Infantile nephropathic cystinosis -MONDO:0869322 ocular cystinosis GARD:9756 MONDO:equivalentTo Ocular cystinosis -MONDO:0869323 familial hypocalciuric hypercalcemia type 2 GARD:9758 MONDO:equivalentTo Familial hypocalciuric hypercalcemia type 2 -MONDO:0869324 leukonychia totalis GARD:9759 MONDO:equivalentTo Leukonychia totalis -MONDO:0869325 isolated congenital onychodysplasia GARD:9761 MONDO:equivalentTo Isolated congenital onychodysplasia -MONDO:0869326 potocki-shaffer syndrome GARD:9762 MONDO:equivalentTo Potocki-Shaffer syndrome -MONDO:0869327 morvan syndrome GARD:9766 MONDO:equivalentTo Morvan syndrome -MONDO:0869328 necrotizing enterocolitis GARD:9767 MONDO:equivalentTo Necrotizing enterocolitis -MONDO:0869329 oligoastrocytoma GARD:9769 MONDO:equivalentTo Oligoastrocytoma -MONDO:0869330 dowling-degos disease GARD:9775 MONDO:equivalentTo Dowling-Degos disease -MONDO:0869331 canomad syndrome GARD:9778 MONDO:equivalentTo CANOMAD syndrome -MONDO:0869332 brachydactyly type a1 GARD:978 MONDO:equivalentTo Brachydactyly type A1 -MONDO:0869333 proximal xq28 duplication syndrome GARD:9781 MONDO:equivalentTo Proximal Xq28 duplication syndrome -MONDO:0869334 parkes weber syndrome GARD:9787 MONDO:equivalentTo Parkes Weber syndrome -MONDO:0869335 rare lymphatic malformation GARD:9789 MONDO:equivalentTo Rare lymphatic malformation -MONDO:0869336 brachydactyly type a2 GARD:979 MONDO:equivalentTo Brachydactyly type A2 -MONDO:0869337 multiple epiphyseal dysplasia type 4 GARD:9793 MONDO:equivalentTo Multiple epiphyseal dysplasia type 4 -MONDO:0869338 multiple epiphyseal dysplasia type 5 GARD:9794 MONDO:equivalentTo Multiple epiphyseal dysplasia type 5 -MONDO:0869339 naxos disease GARD:9795 MONDO:equivalentTo Naxos disease -MONDO:0869340 autoimmune lymphoproliferative syndrome with recurrent viral infections GARD:9796 MONDO:equivalentTo Autoimmune lymphoproliferative syndrome with recurrent viral infections -MONDO:0869341 dianzani autoimmune lymphoproliferative disease GARD:9797 MONDO:equivalentTo Dianzani autoimmune lymphoproliferative disease -MONDO:0869342 auriculocondylar syndrome GARD:9798 MONDO:equivalentTo Auriculocondylar syndrome -MONDO:0869343 familial cutaneous collagenoma GARD:9799 MONDO:equivalentTo Familial cutaneous collagenoma -MONDO:0869344 progressive familial intrahepatic cholestasis type 1 GARD:9802 MONDO:equivalentTo Progressive familial intrahepatic cholestasis type 1 -MONDO:0869345 progressive familial intrahepatic cholestasis type 4 GARD:9803 MONDO:equivalentTo Progressive familial intrahepatic cholestasis type 4 -MONDO:0869346 intrahepatic cholestasis of pregnancy GARD:9804 MONDO:equivalentTo Intrahepatic cholestasis of pregnancy -MONDO:0869347 vibratory urticaria GARD:9806 MONDO:equivalentTo Vibratory urticaria -MONDO:0869348 pilocytic astrocytoma GARD:9808 MONDO:equivalentTo Pilocytic astrocytoma -MONDO:0869349 enteropathy-associated t-cell lymphoma GARD:9809 MONDO:equivalentTo Enteropathy-associated T-cell lymphoma -MONDO:0869350 dyssegmental dysplasia, rolland-desbuquois type GARD:9810 MONDO:equivalentTo Dyssegmental dysplasia, Rolland-Desbuquois type -MONDO:0869351 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome GARD:9811 MONDO:equivalentTo Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome -MONDO:0869352 t-cell large granular lymphocyte leukemia GARD:9812 MONDO:equivalentTo T-cell large granular lymphocyte leukemia -MONDO:0869353 congenital bile acid synthesis defect type 1 GARD:9813 MONDO:equivalentTo Congenital bile acid synthesis defect type 1 -MONDO:0869354 autosomal dominant dopa-responsive dystonia GARD:9817 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia -MONDO:0869355 developmental malformations-deafness-dystonia syndrome GARD:9818 MONDO:equivalentTo Developmental malformations-deafness-dystonia syndrome -MONDO:0869356 catastrophic antiphospholipid syndrome GARD:9820 MONDO:equivalentTo Catastrophic antiphospholipid syndrome -MONDO:0869357 pattern dystrophy GARD:9821 MONDO:equivalentTo Pattern dystrophy -MONDO:0869358 pmm2-cdg GARD:9826 MONDO:equivalentTo PMM2-CDG -MONDO:0869359 alg3-cdg GARD:9827 MONDO:equivalentTo ALG3-CDG -MONDO:0869360 mgat2-cdg GARD:9828 MONDO:equivalentTo MGAT2-CDG -MONDO:0869361 alg6-cdg GARD:9829 MONDO:equivalentTo ALG6-CDG -MONDO:0869362 brachydactyly type a6 GARD:983 MONDO:equivalentTo Brachydactyly type A6 -MONDO:0869363 mpi-cdg GARD:9830 MONDO:equivalentTo MPI-CDG -MONDO:0869364 dpm1-cdg GARD:9831 MONDO:equivalentTo DPM1-CDG -MONDO:0869365 mpdu1-cdg GARD:9832 MONDO:equivalentTo MPDU1-CDG -MONDO:0869366 alg12-cdg GARD:9833 MONDO:equivalentTo ALG12-CDG -MONDO:0869367 alg8-cdg GARD:9834 MONDO:equivalentTo ALG8-CDG -MONDO:0869368 emanuel syndrome GARD:9835 MONDO:equivalentTo Emanuel syndrome -MONDO:0869369 alg2-cdg GARD:9836 MONDO:equivalentTo ALG2-CDG -MONDO:0869370 dpagt1-cdg GARD:9837 MONDO:equivalentTo DPAGT1-CDG -MONDO:0869371 alg1-cdg GARD:9838 MONDO:equivalentTo ALG1-CDG -MONDO:0869372 alg9-cdg GARD:9839 MONDO:equivalentTo ALG9-CDG -MONDO:0869373 brachydactyly type a7 GARD:984 MONDO:equivalentTo Brachydactyly type A7 -MONDO:0869374 b4galt1-cdg GARD:9841 MONDO:equivalentTo B4GALT1-CDG -MONDO:0869375 cog7-cdg GARD:9842 MONDO:equivalentTo COG7-CDG -MONDO:0869376 primary familial polycythemia GARD:9843 MONDO:equivalentTo Primary familial polycythemia -MONDO:0869377 microcephalic osteodysplastic primordial dwarfism type ii GARD:9844 MONDO:equivalentTo Microcephalic osteodysplastic primordial dwarfism type II -MONDO:0869378 heart-hand syndrome, slovenian type GARD:9846 MONDO:equivalentTo Heart-hand syndrome, Slovenian type -MONDO:0869379 heart-hand syndrome type 2 GARD:9847 MONDO:equivalentTo Heart-hand syndrome type 2 -MONDO:0869380 congenital brain dysgenesis due to glutamine synthetase deficiency GARD:9848 MONDO:equivalentTo Congenital brain dysgenesis due to glutamine synthetase deficiency -MONDO:0869381 goldberg-shprintzen megacolon syndrome GARD:9849 MONDO:equivalentTo Goldberg-Shprintzen megacolon syndrome -MONDO:0869382 brachydactyly type b GARD:985 MONDO:equivalentTo Brachydactyly type B -MONDO:0869383 omphalocele syndrome, shprintzen-goldberg type GARD:9850 MONDO:equivalentTo Omphalocele syndrome, Shprintzen-Goldberg type -MONDO:0869384 brachydactyly type c GARD:986 MONDO:equivalentTo Brachydactyly type C -MONDO:0869385 spondyloepimetaphyseal dysplasia with multiple dislocations GARD:9866 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia with multiple dislocations -MONDO:0869386 spinocerebellar ataxia type 14 GARD:9867 MONDO:equivalentTo Spinocerebellar ataxia type 14 -MONDO:0869387 brachydactyly type e GARD:987 MONDO:equivalentTo Brachydactyly type E -MONDO:0869388 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency GARD:9870 MONDO:equivalentTo Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency -MONDO:0869389 lateral meningocele syndrome GARD:9873 MONDO:equivalentTo Lateral meningocele syndrome -MONDO:0869390 fibular aplasia-complex brachydactyly syndrome GARD:9879 MONDO:equivalentTo Fibular aplasia-complex brachydactyly syndrome -MONDO:0869391 hyperandrogenism due to cortisone reductase deficiency GARD:9882 MONDO:equivalentTo Hyperandrogenism due to cortisone reductase deficiency -MONDO:0869392 juvenile myelomonocytic leukemia GARD:9884 MONDO:equivalentTo Juvenile myelomonocytic leukemia -MONDO:0869393 ichthyosis-prematurity syndrome GARD:9886 MONDO:equivalentTo Ichthyosis-prematurity syndrome -MONDO:0869394 benign concentric annular macular dystrophy GARD:9887 MONDO:equivalentTo Benign concentric annular macular dystrophy -MONDO:0869395 pyruvate dehydrogenase phosphatase deficiency GARD:9888 MONDO:equivalentTo Pyruvate dehydrogenase phosphatase deficiency -MONDO:0869396 autosomal dominant optic atrophy, classic form GARD:9890 MONDO:equivalentTo Autosomal dominant optic atrophy, classic form -MONDO:0869397 posterior column ataxia-retinitis pigmentosa syndrome GARD:9898 MONDO:equivalentTo Posterior column ataxia-retinitis pigmentosa syndrome -MONDO:0869398 brachydactyly type a4 GARD:990 MONDO:equivalentTo Brachydactyly type A4 -MONDO:0869399 congenital pulmonary lymphangiectasia GARD:9900 MONDO:equivalentTo Congenital pulmonary lymphangiectasia -MONDO:0869400 polysyndactyly GARD:9903 MONDO:equivalentTo Polysyndactyly -MONDO:0869401 osteosclerosis-ichthyosis-premature ovarian failure syndrome GARD:9904 MONDO:equivalentTo Osteosclerosis-ichthyosis-premature ovarian failure syndrome -MONDO:0869402 lynch syndrome GARD:9905 MONDO:equivalentTo Lynch syndrome -MONDO:0869403 lethal acantholytic erosive disorder GARD:9910 MONDO:equivalentTo Lethal acantholytic erosive disorder -MONDO:0869404 lennox-gastaut syndrome GARD:9912 MONDO:equivalentTo Lennox-Gastaut syndrome -MONDO:0869405 oculoosteocutaneous syndrome GARD:992 MONDO:equivalentTo Oculoosteocutaneous syndrome -MONDO:0869406 mitochondrial neurogastrointestinal encephalomyopathy GARD:9920 MONDO:equivalentTo Mitochondrial neurogastrointestinal encephalomyopathy -MONDO:0869407 nasu-hakola disease GARD:9921 MONDO:equivalentTo Nasu-Hakola disease -MONDO:0869408 hyperinsulinism-hyperammonemia syndrome GARD:9931 MONDO:equivalentTo Hyperinsulinism-hyperammonemia syndrome -MONDO:0869409 exercise-induced hyperinsulinism GARD:9932 MONDO:equivalentTo Exercise-induced hyperinsulinism -MONDO:0869410 hypohidrotic ectodermal dysplasia with immunodeficiency GARD:9936 MONDO:equivalentTo Hypohidrotic ectodermal dysplasia with immunodeficiency -MONDO:0869411 spondyloepiphyseal dysplasia, maroteaux type GARD:994 MONDO:equivalentTo Spondyloepiphyseal dysplasia, Maroteaux type -MONDO:0869412 cednik syndrome GARD:9940 MONDO:equivalentTo CEDNIK syndrome -MONDO:0869413 facioscapulohumeral dystrophy GARD:9941 MONDO:equivalentTo Facioscapulohumeral dystrophy -MONDO:0869414 x-linked intellectual disability-cerebellar hypoplasia syndrome GARD:9947 MONDO:equivalentTo X-linked intellectual disability-cerebellar hypoplasia syndrome -MONDO:0869415 spinocerebellar ataxia type 23 GARD:9950 MONDO:equivalentTo Spinocerebellar ataxia type 23 -MONDO:0869416 spinocerebellar ataxia type 28 GARD:9951 MONDO:equivalentTo Spinocerebellar ataxia type 28 -MONDO:0869417 congenital primary aphakia GARD:9952 MONDO:equivalentTo Congenital primary aphakia -MONDO:0869418 oligodendroglioma GARD:9953 MONDO:equivalentTo Oligodendroglioma -MONDO:0869419 west-nile encephalitis GARD:9959 MONDO:equivalentTo West-Nile encephalitis -MONDO:0869420 spinocerebellar ataxia type 27 GARD:9963 MONDO:equivalentTo Spinocerebellar ataxia type 27 -MONDO:0869421 glycogen storage disease due to phosphoglycerate mutase deficiency GARD:9964 MONDO:equivalentTo Glycogen storage disease due to phosphoglycerate mutase deficiency -MONDO:0869422 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency GARD:9965 MONDO:equivalentTo Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency -MONDO:0869423 spinocerebellar ataxia type 4 GARD:9970 MONDO:equivalentTo Spinocerebellar ataxia type 4 -MONDO:0869424 autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome GARD:9971 MONDO:equivalentTo Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome -MONDO:0869425 spinocerebellar ataxia type 31 GARD:9975 MONDO:equivalentTo Spinocerebellar ataxia type 31 -MONDO:0869426 spinocerebellar ataxia type 18 GARD:9976 MONDO:equivalentTo Spinocerebellar ataxia type 18 -MONDO:0869427 camos syndrome GARD:9977 MONDO:equivalentTo CAMOS syndrome -MONDO:0869428 craniosynostosis-dandy-walker malformation-hydrocephalus syndrome GARD:998 MONDO:equivalentTo Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome -MONDO:0869429 x-linked spinocerebellar ataxia type 4 GARD:9980 MONDO:equivalentTo X-linked spinocerebellar ataxia type 4 -MONDO:0869430 x-linked spinocerebellar ataxia type 3 GARD:9981 MONDO:equivalentTo X-linked spinocerebellar ataxia type 3 -MONDO:0869431 x-linked intellectual disability, miles-carpenter type GARD:9984 MONDO:equivalentTo X-linked intellectual disability, Miles-Carpenter type -MONDO:0869432 severe combined immunodeficiency due to dclre1c deficiency GARD:9987 MONDO:equivalentTo Severe combined immunodeficiency due to DCLRE1C deficiency -MONDO:0869433 mandibuloacral dysplasia with type b lipodystrophy GARD:9989 MONDO:equivalentTo Mandibuloacral dysplasia with type B lipodystrophy -MONDO:0869434 b4galt7-related spondylodysplastic ehlers-danlos syndrome GARD:9991 MONDO:equivalentTo B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome -MONDO:0869435 riboflavin transporter deficiency GARD:9993 MONDO:equivalentTo Riboflavin transporter deficiency -MONDO:0869436 clark-baraitser syndrome GARD:9994 MONDO:equivalentTo Clark-Baraitser syndrome -MONDO:0869437 spinocerebellar ataxia type 26 GARD:9995 MONDO:equivalentTo Spinocerebellar ataxia type 26 -MONDO:0869438 spinocerebellar ataxia type 25 GARD:9996 MONDO:equivalentTo Spinocerebellar ataxia type 25 -MONDO:0869439 spinocerebellar ataxia type 20 GARD:9997 MONDO:equivalentTo Spinocerebellar ataxia type 20 -MONDO:0869440 sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome GARD:9998 MONDO:equivalentTo Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome -MONDO:0869441 spinocerebellar ataxia type 21 GARD:9999 MONDO:equivalentTo Spinocerebellar ataxia type 21 diff --git a/src/ontology/unmapped/gard-unmapped.owl b/src/ontology/unmapped/gard-unmapped.owl deleted file mode 100644 index f967bc79..00000000 --- a/src/ontology/unmapped/gard-unmapped.owl +++ /dev/null @@ -1,98874 +0,0 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - GRACILE syndrome - - - - - - - - Spinocerebellar ataxia with axonal neuropathy type 1 - - - - - - - - Congenital chloride diarrhea - - - - - - - - Familial progressive cardiac conduction defect - - - - - - - - - Immunodeficiency 61 - - - - - - - - Opsoclonus-myoclonus syndrome - - - - - - - - Self-improving dystrophic epidermolysis bullosa - - - - - - - - Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome - - - - - - - - Camptodactyly-tall stature-scoliosis-hearing loss syndrome - - - - - - - - Pellagra - - - - - - - - Fuchs endothelial corneal dystrophy - - - - - - - - X-linked mandibulofacial dysostosis - - - - - - - - - Bruck syndrome 2 - - - - - - - - - Whistling face syndrome, recessive form - - - - - - - - Anterior segment developmental anomaly - - - - - - - - Campomelic dysplasia - - - - - - - - Benign recurrent intrahepatic cholestasis type 1 - - - - - - - - Benign recurrent intrahepatic cholestasis type 2 - - - - - - - - - Aneurysm, intracranial berry, 2 - - - - - - - - Congenital trigeminal anesthesia - - - - - - - - Familial encephalopathy with neuroserpin inclusion bodies - - - - - - - - Hydroxykynureninuria - - - - - - - - Burn-McKeown syndrome - - - - - - - - - Usher syndrome, type if - - - - - - - - Congenital bile acid synthesis defect type 2 - - - - - - - - Congenital bile acid synthesis defect type 4 - - - - - - - - Glutathione synthetase deficiency - - - - - - - - Isolated congenital anonychia - - - - - - - - Central areolar choroidal dystrophy - - - - - - - - Bietti crystalline dystrophy - - - - - - - - Limb-mammary syndrome - - - - - - - - Lipomyelomeningocele - - - - - - - - Eye defects-arachnodactyly-cardiopathy syndrome - - - - - - - - Mandibulofacial dysostosis-microcephaly syndrome - - - - - - - - Spondyloepimetaphyseal dysplasia, Geneviève type - - - - - - - - Talo-patello-scaphoid osteolysis - - - - - - - - Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome - - - - - - - - Subependymoma - - - - - - - - Diaphyseal medullary stenosis-bone malignancy syndrome - - - - - - - - - Dermatitis herpetiformis, familial - - - - - - - - White forelock with malformations - - - - - - - - Infantile osteopetrosis with neuroaxonal dysplasia - - - - - - - - Hepatic veno-occlusive disease-immunodeficiency syndrome - - - - - - - - Hemifacial myohyperplasia - - - - - - - - Majeed syndrome - - - - - - - - TARP syndrome - - - - - - - - - Pierre robin sequence with pectus excavatum and rib and scapular anomalies - - - - - - - - Sotos syndrome - - - - - - - - Hemochromatosis type 2 - - - - - - - - Hemochromatosis type 3 - - - - - - - - Hemochromatosis type 4 - - - - - - - - - Migraine, familial hemiplegic, 2 - - - - - - - - Hereditary leiomyomatosis and renal cell cancer - - - - - - - - - Leiomyoma of vulva and esophagus - - - - - - - - Gamma-glutamyl transpeptidase deficiency - - - - - - - - Centronuclear myopathy - - - - - - - - Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome - - - - - - - - Elastosis perforans serpiginosa - - - - - - - - - Pseudoxanthoma elasticum, forme fruste - - - - - - - - Osteopetrosis-hypogammaglobulinemia syndrome - - - - - - - - - Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency - - - - - - - - Cornelia de Lange syndrome - - - - - - - - - - - - Nemaline myopathy 3 - - - - - - - - Ichthyosis-hypotrichosis syndrome - - - - - - - - Oguchi disease - - - - - - - - - Cone dystrophy, x-linked, with tapetal-like sheen - - - - - - - - - Macular dystrophy, vitelliform, 1 - - - - - - - - MORM syndrome - - - - - - - - Progressive bifocal chorioretinal atrophy - - - - - - - - GM1 gangliosidosis type 2 - - - - - - - - Leydig cell hypoplasia due to LHB deficiency - - - - - - - - Isolated follicle stimulating hormone deficiency - - - - - - - - Isolated thyroid-stimulating hormone deficiency - - - - - - - - Monosomy 22q13.3 - - - - - - - - Hereditary motor and sensory neuropathy, Okinawa type - - - - - - - - Charcot-Marie-Tooth disease type 4G - - - - - - - - Distal hereditary motor neuropathy, Jerash type - - - - - - - - Primary dystonia, DYT4 type - - - - - - - - Bohring-Opitz syndrome - - - - - - - - Osteogenesis imperfecta type 2 - - - - - - - - Dentinogenesis imperfecta type 3 - - - - - - - - 17p11.2 microduplication syndrome - - - - - - - - BOR syndrome - - - - - - - - Branchiootic syndrome - - - - - - - - Kyphomelic dysplasia - - - - - - - - - Aicardi-goutieres syndrome 5 - - - - - - - - - - Osteogenesis imperfecta, type viii - - - - - - - - Pulmonary venoocclusive disease - - - - - - - - Congenital chylothorax - - - - - - - - Curly hair-acral keratoderma-caries syndrome - - - - - - - - - Joubert syndrome 2 - - - - - - - - Joubert syndrome with ocular defect - - - - - - - - Joubert syndrome with renal defect - - - - - - - - Osteogenesis imperfecta - - - - - - - - Florid cemento-osseous dysplasia - - - - - - - - Klatskin tumor - - - - - - - - Mirizzi syndrome - - - - - - - - Brooke-Spiegler syndrome - - - - - - - - Epithelioid sarcoma - - - - - - - - Hereditary cryohydrocytosis with normal stomatin - - - - - - - - - Angioma serpiginosum, x-linked - - - - - - - - - Angioma serpiginosum, autosomal dominant - - - - - - - - Brittle cornea syndrome - - - - - - - - Isolated focal cortical dysplasia type II - - - - - - - - Subcutaneous panniculitis-like T-cell lymphoma - - - - - - - - Early-onset X-linked optic atrophy - - - - - - - - Neu-Laxova syndrome - - - - - - - - - Optic atrophy 6 - - - - - - - - - Optic atrophy 5 - - - - - - - - 2q37 microdeletion syndrome - - - - - - - - Autosomal dominant optic atrophy and cataract - - - - - - - - - Bardet-biedl syndrome 5 - - - - - - - - - Bardet-biedl syndrome 6 - - - - - - - - - Bardet-biedl syndrome 7 - - - - - - - - - Bardet-biedl syndrome 8 - - - - - - - - - Bardet-biedl syndrome 9 - - - - - - - - - Bardet-biedl syndrome 10 - - - - - - - - - Bardet-biedl syndrome 11 - - - - - - - - - Bardet-biedl syndrome 12 - - - - - - - - - Lipodystrophy, congenital generalized, type 2 - - - - - - - - Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 - - - - - - - - Neonatal intrahepatic cholestasis due to citrin deficiency - - - - - - - - Citrullinemia type II - - - - - - - - NDE1-related microhydranencephaly - - - - - - - - Spondyloepiphyseal dysplasia with metatarsal shortening - - - - - - - - HNF1B-related autosomal dominant tubulointerstitial kidney disease - - - - - - - - Isobutyryl-CoA dehydrogenase deficiency - - - - - - - - Zygomycosis - - - - - - - - Multiple endocrine neoplasia type 2B - - - - - - - - COG1-CDG - - - - - - - - Autosomal dominant limb-girdle muscular dystrophy type 1A - - - - - - - - - Emery-dreifuss muscular dystrophy 2, autosomal dominant - - - - - - - - Biotin-thiamine-responsive basal ganglia disease - - - - - - - - Myostatin-related muscle hypertrophy - - - - - - - - H syndrome - - - - - - - - - Diamond-blackfan anemia 3 - - - - - - - - Familial lipase maturation factor 1 deficiency - - - - - - - - Down syndrome - - - - - - - - Rare disease with autism - - - - - - - - Bronchogenic cyst - - - - - - - - Primary Sjögren syndrome - - - - - - - - Hydatidiform mole - - - - - - - - Hereditary cerebral hemorrhage with amyloidosis - - - - - - - - Hyper-beta-alaninemia - - - - - - - - Adducted thumbs-arthrogryposis syndrome, Christian type - - - - - - - - Isolated Klippel-Feil syndrome - - - - - - - - - Axenfeld-rieger syndrome, type 1 - - - - - - - - Desmosterolosis - - - - - - - - Rolandic epilepsy - - - - - - - - Neutral lipid storage myopathy - - - - - - - - Bruck syndrome - - - - - - - - Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia - - - - - - - - Linear nevus sebaceus syndrome - - - - - - - - Autosomal recessive ataxia due to ubiquinone deficiency - - - - - - - - Syndactyly-telecanthus-anogenital and renal malformations syndrome - - - - - - - - 15q13.3 microdeletion syndrome - - - - - - - - Ghosal hematodiaphyseal dysplasia - - - - - - - - 22q11.2 deletion syndrome - - - - - - - - Brugada syndrome - - - - - - - - Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome - - - - - - - - Autosomal recessive bestrophinopathy - - - - - - - - SERKAL syndrome - - - - - - - - Autism-facial port-wine stain syndrome - - - - - - - - 8p23.1 duplication syndrome - - - - - - - - Nephrogenic syndrome of inappropriate antidiuresis - - - - - - - - Congenital disorder of glycosylation - - - - - - - - Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency - - - - - - - - Neurogenic scapuloperoneal syndrome, Kaeser type - - - - - - - - MYH7-related late-onset scapuloperoneal muscular dystrophy - - - - - - - - Scapuloperoneal spinal muscular atrophy - - - - - - - - Congenital multicore myopathy with external ophthalmoplegia - - - - - - - - Megaconial congenital muscular dystrophy - - - - - - - - Autosomal dominant prognathism - - - - - - - - - Corneal dystrophy, lattice type iiia - - - - - - - - 3-methylglutaconic aciduria type 1 - - - - - - - - 2-methylbutyryl-CoA dehydrogenase deficiency - - - - - - - - L-Arginine:glycine amidinotransferase deficiency - - - - - - - - Mild phenylketonuria - - - - - - - - Progressive encephalopathy with leukodystrophy due to DECR deficiency - - - - - - - - X-linked agammaglobulinemia - - - - - - - - Tyrosinemia type 3 - - - - - - - - Sickle cell-beta-thalassemia disease syndrome - - - - - - - - Mucopolysaccharidosis type 1 - - - - - - - - Severe combined immunodeficiency due to complete RAG1/2 deficiency - - - - - - - - Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome - - - - - - - - 3-methylglutaconic aciduria type 4 - - - - - - - - Gamma-heavy chain disease - - - - - - - - Spinocerebellar ataxia type 6 - - - - - - - - Familial platelet disorder with associated myeloid malignancy - - - - - - - - Porphyria - - - - - - - - Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome - - - - - - - - Familial congenital palsy of trochlear nerve - - - - - - - - Intellectual disability, Birk-Barel type - - - - - - - - - Paralysis agitans, juvenile, of hunt - - - - - - - - 3q29 microduplication syndrome - - - - - - - - - Brugada syndrome 3 - - - - - - - - - Brugada syndrome 4 - - - - - - - - Idiopathic trachyonychia - - - - - - - - - Jervell and lange-nielsen syndrome 2 - - - - - - - - Dopa-responsive dystonia due to sepiapterin reductase deficiency - - - - - - - - Toriello-Lacassie-Droste syndrome - - - - - - - - Lelis syndrome - - - - - - - - Primary basilar invagination - - - - - - - - Trehalase deficiency - - - - - - - - - Trichoepithelioma, multiple familial, 2 - - - - - - - - - Retinitis pigmentosa 12 - - - - - - - - - Retinitis pigmentosa 6 - - - - - - - - - Retinitis pigmentosa 29 - - - - - - - - - Retinitis pigmentosa 41 - - - - - - - - Hereditary bullous dystrophy, macular type - - - - - - - - - Retinitis pigmentosa 2 - - - - - - - - - Retinitis pigmentosa 3 - - - - - - - - - Retinitis pigmentosa 9 - - - - - - - - - Retinitis pigmentosa 11 - - - - - - - - - Retinitis pigmentosa 25 - - - - - - - - - Retinitis pigmentosa 14 - - - - - - - - - Retinitis pigmentosa 7 - - - - - - - - - Retinitis pigmentosa 17 - - - - - - - - - Retinitis pigmentosa 13 - - - - - - - - - Retinitis pigmentosa 24 - - - - - - - - Autosomal dominant epidermolytic ichthyosis - - - - - - - - - Retinitis pigmentosa 34 - - - - - - - - - Retinitis pigmentosa 23 - - - - - - - - - Retinitis pigmentosa 18 - - - - - - - - - Retinitis pigmentosa 22 - - - - - - - - - Retinitis pigmentosa 28 - - - - - - - - - Retinitis pigmentosa 32 - - - - - - - - - Retinitis pigmentosa 31 - - - - - - - - - Retinitis pigmentosa 26 - - - - - - - - - Retinitis pigmentosa 19 - - - - - - - - Ochoa syndrome - - - - - - - - - Retinitis pigmentosa 33 - - - - - - - - - Retinitis pigmentosa 30 - - - - - - - - - Retinitis pigmentosa 35 - - - - - - - - - Retinitis pigmentosa 36 - - - - - - - - - Retinitis pigmentosa 20 - - - - - - - - - Retinitis pigmentosa 4 - - - - - - - - Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome - - - - - - - - Small cell carcinoma of the ovary - - - - - - - - Autosomal dominant polycystic kidney disease - - - - - - - - Goblet cell carcinoma - - - - - - - - Homozygous familial hypercholesterolemia - - - - - - - - Symptomatic form of hemochromatosis type 1 - - - - - - - - Hemophilia - - - - - - - - Myotonic dystrophy - - - - - - - - Coenzyme Q10 deficiency - - - - - - - - Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy - - - - - - - - X-linked hypohidrotic ectodermal dysplasia - - - - - - - - Pure autonomic failure - - - - - - - - Autosomal dominant brachyolmia - - - - - - - - Dravet syndrome - - - - - - - - - Cardiac arrhythmia, ankyrin-b-related - - - - - - - - - Long qt syndrome 5 - - - - - - - - - Long qt syndrome 6 - - - - - - - - - Long qt syndrome 9 - - - - - - - - - Long qt syndrome 10 - - - - - - - - - Long qt syndrome 11 - - - - - - - - Buschke-Ollendorff syndrome - - - - - - - - Pediatric multiple sclerosis - - - - - - - - Transaldolase deficiency - - - - - - - - Perry syndrome - - - - - - - - Isolated permanent neonatal diabetes mellitus - - - - - - - - GCGR-related hyperglucagonemia - - - - - - - - Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome - - - - - - - - Spinocerebellar ataxia type 17 - - - - - - - - Telethonin-related limb-girdle muscular dystrophy R7 - - - - - - - - L-2-hydroxyglutaric aciduria - - - - - - - - Spinocerebellar ataxia type 10 - - - - - - - - Spinocerebellar ataxia type 11 - - - - - - - - Spinocerebellar ataxia type 12 - - - - - - - - Spinocerebellar ataxia type 15/16 - - - - - - - - Spinocerebellar ataxia type 29 - - - - - - - - Infantile dystonia-parkinsonism - - - - - - - - Craniopharyngioma - - - - - - - - - Leber congenital amaurosis 10 - - - - - - - - - Leber congenital amaurosis 11 - - - - - - - - - Leber congenital amaurosis 12 - - - - - - - - Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy - - - - - - - - - Leber congenital amaurosis 6 - - - - - - - - Langerhans cell sarcoma - - - - - - - - Aggressive NK-cell leukemia - - - - - - - - Meconium aspiration syndrome - - - - - - - - - Amyotrophic lateral sclerosis 11 - - - - - - - - - Amyotrophic lateral sclerosis 9 - - - - - - - - - Amyotrophic lateral sclerosis 8 - - - - - - - - Oculocerebral hypopigmentation syndrome, Cross type - - - - - - - - - Amyotrophic lateral sclerosis 7 - - - - - - - - - Amyotrophic lateral sclerosis 3 - - - - - - - - Amyotrophic lateral sclerosis type 4 - - - - - - - - Craniorachischisis - - - - - - - - Cryptophthalmia - - - - - - - - Iniencephaly - - - - - - - - Bartter syndrome type 4 - - - - - - - - Acquired partial lipodystrophy - - - - - - - - Caffey disease - - - - - - - - Juvenile Huntington disease - - - - - - - - - Sorsby fundus dystrophy - - - - - - - - Spondyloepimetaphyseal dysplasia, aggrecan type - - - - - - - - EAST syndrome - - - - - - - - Congenital tracheomalacia - - - - - - - - Sterile multifocal osteomyelitis with periostitis and pustulosis - - - - - - - - - Axenfeld-rieger syndrome, type 2 - - - - - - - - Orofaciodigital syndrome type 3 - - - - - - - - Cataract-hypertrichosis-intellectual disability syndrome - - - - - - - - Orofaciodigital syndrome type 9 - - - - - - - - Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome - - - - - - - - Combined immunodeficiency due to STIM1 deficiency - - - - - - - - Combined immunodeficiency due to ORAI1 deficiency - - - - - - - - 15q11.2 microdeletion syndrome - - - - - - - - Ectodermal dysplasia with natal teeth, Turnpenny type - - - - - - - - Gingival fibromatosis-facial dysmorphism syndrome - - - - - - - - Myofibrillar myopathy - - - - - - - - Limited cutaneous systemic sclerosis - - - - - - - - X-linked dystonia-parkinsonism - - - - - - - - Primary dystonia, DYT17 type - - - - - - - - Primary dystonia, DYT13 type - - - - - - - - Autosomal recessive spastic paraplegia type 35 - - - - - - - - Dystonia 16 - - - - - - - - Paroxysmal exertion-induced dyskinesia - - - - - - - - - Paragangliomas 2 - - - - - - - - - Paragangliomas 3 - - - - - - - - - Paragangliomas 4 - - - - - - - - CD4+/CD56+ hematodermic neoplasm - - - - - - - - 22q11.2 duplication syndrome - - - - - - - - Primary interstitial lung disease specific to childhood - - - - - - - - AA amyloidosis - - - - - - - - Nodular cutaneous amyloidosis - - - - - - - - Calpain-3-related limb-girdle muscular dystrophy R1 - - - - - - - - - Bartsocas-papas syndrome 1 - - - - - - - - Christianson syndrome - - - - - - - - Camptodactyly syndrome, Guadalajara type 3 - - - - - - - - Åland Islands eye disease - - - - - - - - Hyper-IgM syndrome type 2 - - - - - - - - Hyper-IgM syndrome type 3 - - - - - - - - X-linked calvarial hyperostosis - - - - - - - - Hyper-IgM syndrome type 4 - - - - - - - - Hyper-IgM syndrome type 5 - - - - - - - - Zechi-Ceide syndrome - - - - - - - - Neonatal ichthyosis-sclerosing cholangitis syndrome - - - - - - - - Mesomelic dysplasia, Savarirayan type - - - - - - - - Chronic neutrophilic leukemia - - - - - - - - - - Loeys-dietz syndrome 2 - - - - - - - - Adult-onset autosomal dominant leukodystrophy - - - - - - - - - Loeys-dietz syndrome 4 - - - - - - - - Mesoaxial synostotic syndactyly with phalangeal reduction - - - - - - - - 1q21.1 microduplication syndrome - - - - - - - - 19q13.11 microdeletion syndrome - - - - - - - - Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - - - - - - - - Neurodegenerative syndrome due to cerebral folate transport deficiency - - - - - - - - BNAR syndrome - - - - - - - - Complete androgen insensitivity syndrome - - - - - - - - Oculocerebrocutaneous syndrome - - - - - - - - - Pituitary hormone deficiency, combined 1 - - - - - - - - Combined pituitary hormone deficiencies, genetic forms - - - - - - - - Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome - - - - - - - - Short stature-pituitary and cerebellar defects-small sella turcica syndrome - - - - - - - - Acrocapitofemoral dysplasia - - - - - - - - Atelosteogenesis type III - - - - - - - - Growth delay due to insulin-like growth factor I resistance - - - - - - - - Campomelia, Cumming type - - - - - - - - Spondyloepimetaphyseal dysplasia, matrilin-3 type - - - - - - - - Thoracomelic dysplasia - - - - - - - - Adrenomyeloneuropathy - - - - - - - - - Telangiectasia, hereditary hemorrhagic, type 4 - - - - - - - - Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome - - - - - - - - Congenital cystic eye - - - - - - - - Spondyloepimetaphyseal dysplasia, Missouri type - - - - - - - - - - - Osteogenesis imperfecta, type ix - - - - - - - - Camptobrachydactyly - - - - - - - - Smith-McCort dysplasia - - - - - - - - - Cleidocranial dysplasia, recessive form - - - - - - - - Spondyloepiphyseal dysplasia tarda - - - - - - - - - Complement component 8 deficiency, type ii - - - - - - - - - Complement component 8 deficiency, type i - - - - - - - - Growth delay due to insulin-like growth factor type 1 deficiency - - - - - - - - Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome - - - - - - - - Idiopathic camptocormia - - - - - - - - Congenital tufting enteropathy - - - - - - - - Pleomorphic xanthoastrocytoma - - - - - - - - Subependymal giant cell astrocytoma - - - - - - - - Myxopapillary ependymoma - - - - - - - - Anaplastic ependymoma - - - - - - - - Astroblastoma - - - - - - - - Anaplastic oligoastrocytoma - - - - - - - - Gangliocytoma - - - - - - - - Anaplastic ganglioglioma - - - - - - - - Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome - - - - - - - - Dysembryoplastic neuroepithelial tumor - - - - - - - - Central neurocytoma - - - - - - - - Cerebellar liponeurocytoma - - - - - - - - Carney-Stratakis syndrome - - - - - - - - Pineal parenchymal tumor of intermediate differenciation - - - - - - - - Dent disease type 2 - - - - - - - - Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome - - - - - - - - - Retinal cone dystrophy 3a - - - - - - - - Cone dystrophy with supernormal rod response - - - - - - - - - Retinal cone dystrophy 4 - - - - - - - - - Cone-rod dystrophy 1 - - - - - - - - - Cone-rod dystrophy, x-linked, 1 - - - - - - - - - Cone-rod dystrophy 3 - - - - - - - - - Cone-rod dystrophy, x-linked, 3 - - - - - - - - - Cone-rod dystrophy 5 - - - - - - - - - Cone-rod dystrophy 6 - - - - - - - - - Maturity-onset diabetes of the young, type 2 - - - - - - - - - Maturity-onset diabetes of the young, type 3 - - - - - - - - - Maturity-onset diabetes of the young, type 4 - - - - - - - - - Maturity-onset diabetes of the young, type 6 - - - - - - - - - Maturity-onset diabetes of the young, type 7 - - - - - - - - - Maturity-onset diabetes of the young, type 8, with exocrine dysfunction - - - - - - - - - Maturity-onset diabetes of the young, type 9 - - - - - - - - Baroreflex failure - - - - - - - - Autosomal dominant focal dystonia, DYT25 type - - - - - - - - Camptodactyly syndrome, Guadalajara type 1 - - - - - - - - Glycoproteinosis - - - - - - - - Fetal Gaucher disease - - - - - - - - UMOD-related autosomal dominant tubulointerstitial kidney disease - - - - - - - - Camptodactyly syndrome, Guadalajara type 2 - - - - - - - - Pseudohypoparathyroidism type 1B - - - - - - - - Pseudohypoparathyroidism type 1C - - - - - - - - Pseudohypoparathyroidism type 2 - - - - - - - - Primary lateral sclerosis - - - - - - - - Neuroferritinopathy - - - - - - - - - Neurodegeneration with brain iron accumulation 2b - - - - - - - - Camptodactyly-taurinuria syndrome - - - - - - - - - Duane retraction syndrome 3 with or without deafness - - - - - - - - Orofaciodigital syndrome - - - - - - - - Orofaciodigital syndrome type 12 - - - - - - - - Orofaciodigital syndrome type 13 - - - - - - - - Atrial septal defect, ostium primum type - - - - - - - - Atrial septal defect, sinus venosus type - - - - - - - - Atrial septal defect, coronary sinus type - - - - - - - - - Noonan syndrome 2 - - - - - - - - - Noonan syndrome 4 - - - - - - - - - Noonan syndrome 5 - - - - - - - - - Noonan syndrome 6 - - - - - - - - Pontocerebellar hypoplasia type 1 - - - - - - - - Pontocerebellar hypoplasia type 2 - - - - - - - - Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome - - - - - - - - Deafness with labyrinthine aplasia, microtia, and microdontia - - - - - - - - Pontocerebellar hypoplasia type 3 - - - - - - - - - Camptomelic syndrome, long-limb type - - - - - - - - Pontocerebellar hypoplasia type 6 - - - - - - - - Genetic peripheral neuropathy - - - - - - - - Pudendal neuralgia - - - - - - - - Legius syndrome - - - - - - - - HSD10 disease - - - - - - - - Noonan syndrome-like disorder with loose anagen hair - - - - - - - - Camurati-Engelmann disease - - - - - - - - - Spondylocostal dysostosis 1, autosomal recessive - - - - - - - - Koolen-De Vries syndrome - - - - - - - - Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease - - - - - - - - Chronic visceral acid sphingomyelinase deficiency - - - - - - - - Pyridoxal phosphate-responsive seizures - - - - - - - - McLeod neuroacanthocytosis syndrome - - - - - - - - Leukoencephalopathy with calcifications and cysts - - - - - - - - Pleuropulmonary blastoma familial tumor susceptibility syndrome - - - - - - - - Primary hyperoxaluria type 3 - - - - - - - - Neuronal ceroid lipofuscinosis - - - - - - - - Proximal 16p11.2 microdeletion syndrome - - - - - - - - Spondyloepimetaphyseal dysplasia, Handigodu type - - - - - - - - Conjunctival malignant melanoma - - - - - - - - Epidermolysis bullosa simplex - - - - - - - - Pachyonychia congenita - - - - - - - - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - - - - - - - 16p13.3 microduplication syndrome - - - - - - - - Multiple epiphyseal dysplasia - - - - - - - - Pseudohypoparathyroidism - - - - - - - - Glycogen storage disease due to muscle and heart glycogen synthase deficiency - - - - - - - - 2-hydroxyglutaric aciduria - - - - - - - - Hereditary arterial and articular multiple calcification syndrome - - - - - - - - - Duane retraction syndrome 1 - - - - - - - - Hypermethioninemia due to glycine N-methyltransferase deficiency - - - - - - - - Congenital factor XIII deficiency - - - - - - - - MOGS-CDG - - - - - - - - Familial or sporadic hemiplegic migraine - - - - - - - - Laing early-onset distal myopathy - - - - - - - - Chronic mucocutaneous candidiasis - - - - - - - - Kallmann syndrome - - - - - - - - - - Hypogonadotropic hypogonadism 4 with or without anosmia - - - - - - - - - - Hypogonadotropic hypogonadism 5 with or without anosmia - - - - - - - - - - Hypogonadotropic hypogonadism 6 with or without anosmia - - - - - - - - Syndromic multisystem autoimmune disease due to Itch deficiency - - - - - - - - Peritoneal cystic mesothelioma - - - - - - - - Recurrent infection due to specific granule deficiency - - - - - - - - CLIPPERS - - - - - - - - Hypogonadism-mitral valve prolapse-intellectual disability syndrome - - - - - - - - Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia - - - - - - - - Goldmann-Favre syndrome - - - - - - - - Stickler syndrome - - - - - - - - Bilateral frontal polymicrogyria - - - - - - - - Bilateral frontoparietal polymicrogyria - - - - - - - - Bilateral parasagittal parieto-occipital polymicrogyria - - - - - - - - Bilateral generalized polymicrogyria - - - - - - - - Loeys-Dietz syndrome - - - - - - - - Cone rod dystrophy - - - - - - - - Logopenic progressive aphasia - - - - - - - - Semantic dementia - - - - - - - - Progressive non-fluent aphasia - - - - - - - - Paroxysmal hemicrania - - - - - - - - Hemicrania continua - - - - - - - - Hypnic headache - - - - - - - - Adult polyglucosan body disease - - - - - - - - Autosomal dominant tubulointerstitial kidney disease - - - - - - - - Lamellar ichthyosis - - - - - - - - Metaplastic carcinoma of the breast - - - - - - - - MUTYH-related attenuated familial adenomatous polyposis - - - - - - - - Female restricted epilepsy with intellectual disability - - - - - - - - Insulin autoimmune syndrome - - - - - - - - Postorgasmic illness syndrome - - - - - - - - Fatty acid hydroxylase-associated neurodegeneration - - - - - - - - 1q21.1 microdeletion syndrome - - - - - - - - Thyrotoxic periodic paralysis - - - - - - - - Lichen planus pigmentosus - - - - - - - - Autosomal dominant spastic paraplegia type 31 - - - - - - - - Combined malonic and methylmalonic acidemia - - - - - - - - Eastern equine encephalitis - - - - - - - - Idiopathic spontaneous coronary artery dissection - - - - - - - - Obesity due to pro-opiomelanocortin deficiency - - - - - - - - Cushing syndrome due to macronodular adrenal hyperplasia - - - - - - - - Familial hypocalciuric hypercalcemia - - - - - - - - Hyperparathyroidism-jaw tumor syndrome - - - - - - - - Nevus of Ito - - - - - - - - Ring chromosome 2 syndrome - - - - - - - - Ring chromosome 3 syndrome - - - - - - - - Systemic capillary leak syndrome - - - - - - - - Ring chromosome 5 syndrome - - - - - - - - Ring chromosome 11 syndrome - - - - - - - - Ring chromosome 16 syndrome - - - - - - - - Monosomy 21 - - - - - - - - Monosomy 18q - - - - - - - - Familial multiple trichoepithelioma - - - - - - - - Free sialic acid storage disease - - - - - - - - Intermediate severe Salla disease - - - - - - - - Malignant peripheral nerve sheath tumor - - - - - - - - Heterotaxia - - - - - - - - Congenital radioulnar synostosis - - - - - - - - Familial tumoral calcinosis - - - - - - - - Familial normophosphatemic tumoral calcinosis - - - - - - - - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - - - - - - - - Leber congenital amaurosis 7 - - - - - - - - - Leber congenital amaurosis 8 - - - - - - - - - Leber congenital amaurosis 13 - - - - - - - - - Leber congenital amaurosis 14 - - - - - - - - - Leber congenital amaurosis 15 - - - - - - - - - Leber congenital amaurosis 16 - - - - - - - - Frontal fibrosing alopecia - - - - - - - - Osteofibrous dysplasia - - - - - - - - HANAC syndrome - - - - - - - - Non-involuting congenital hemangioma - - - - - - - - GM1 gangliosidosis - - - - - - - - Blepharophimosis-intellectual disability syndrome - - - - - - - - Primary acquired pure red cell aplasia - - - - - - - - Inclusion body myopathy with Paget disease of bone and frontotemporal dementia - - - - - - - - Progressive osseous heteroplasia - - - - - - - - Hereditary diffuse gastric cancer - - - - - - - - Neuroacanthocytosis - - - - - - - - Brachyolmia - - - - - - - - Dyskeratosis congenita - - - - - - - - Primary pigmented nodular adrenocortical disease - - - - - - - - X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia - - - - - - - - Adult-onset foveomacular vitelliform dystrophy - - - - - - - - Medial condensing osteitis of the clavicle - - - - - - - - Autoimmune pancreatitis - - - - - - - - Griscelli syndrome - - - - - - - - Familial avascular necrosis of femoral head - - - - - - - - X-linked lymphoproliferative disease - - - - - - - - X-linked lymphoproliferative disease due to XIAP deficiency - - - - - - - - Hypomyelination with atrophy of basal ganglia and cerebellum - - - - - - - - Pontine tegmental cap dysplasia - - - - - - - - Intraneural perineurioma - - - - - - - - 49,XXXYY syndrome - - - - - - - - Erythrokeratoderma variabilis progressiva - - - - - - - - Carney triad - - - - - - - - La Crosse encephalitis - - - - - - - - Cryopyrin-associated periodic syndrome - - - - - - - - Nodular regenerative hyperplasia of the liver - - - - - - - - - Progressive familial heart block, type ia - - - - - - - - - Microcephaly, seizures, and developmental delay - - - - - - - - Monocytopenia with susceptibility to infections - - - - - - - - 16q24.3 microdeletion syndrome - - - - - - - - 17q23.1q23.2 microdeletion syndrome - - - - - - - - - Lipodystrophy, congenital generalized, type 4 - - - - - - - - Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome - - - - - - - - CLOVES syndrome - - - - - - - - Cardiac diverticulum - - - - - - - - Superior limbic keratoconjunctivitis - - - - - - - - Anterior uveitis - - - - - - - - Glaucoma secondary to spherophakia/ectopia lentis and megalocornea - - - - - - - - 1q44 microdeletion syndrome - - - - - - - - COG6-CGD - - - - - - - - Short stature-optic atrophy-Pelger-Huët anomaly syndrome - - - - - - - - Corticosteroid-sensitive aseptic abscess syndrome - - - - - - - - UV-sensitive syndrome - - - - - - - - Erythropoietic uroporphyria associated with myeloid malignancy - - - - - - - - Non-24-hour sleep-wake syndrome - - - - - - - - Necrobiotic xanthogranuloma - - - - - - - - 3-methylcrotonyl-CoA carboxylase deficiency - - - - - - - - Noonan syndrome - - - - - - - - Hyper-IgE syndrome - - - - - - - - IRIDA syndrome - - - - - - - - Oculocutaneous albinism - - - - - - - - Familial isolated pituitary adenoma - - - - - - - - FLNA-related X-linked myxomatous valvular dysplasia - - - - - - - - TEMPI syndrome - - - - - - - - Chronic graft versus host disease - - - - - - - - FGFR2-related bent bone dysplasia - - - - - - - - Systemic-onset juvenile idiopathic arthritis - - - - - - - - Enthesitis-related juvenile idiopathic arthritis - - - - - - - - Psoriasis-related juvenile idiopathic arthritis - - - - - - - - Distal monosomy 17q - - - - - - - - Adult neuronal ceroid lipofuscinosis - - - - - - - - - Migraine, familial hemiplegic, 3 - - - - - - - - Non-syndromic pontocerebellar hypoplasia - - - - - - - - Autoimmune polyendocrinopathy type 3 - - - - - - - - Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia - - - - - - - - Disseminated superficial actinic porokeratosis - - - - - - - - Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency - - - - - - - - Left ventricular noncompaction - - - - - - - - Granulomatous slack skin - - - - - - - - Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome - - - - - - - - 19p13.12 microdeletion syndrome - - - - - - - - Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome - - - - - - - - Genitopatellar syndrome - - - - - - - - Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly - - - - - - - - Distal 17p13.1 microdeletion syndrome - - - - - - - - Aneurysm-osteoarthritis syndrome - - - - - - - - 2q23.1 microdeletion syndrome - - - - - - - - Severe intellectual disability and progressive spastic paraplegia - - - - - - - - Alternating hemiplegia of childhood - - - - - - - - Noonan syndrome with multiple lentigines - - - - - - - - Constitutional megaloblastic anemia with severe neurologic disease - - - - - - - - Karyomegalic interstitial nephritis - - - - - - - - Linear and whorled nevoid hypermelanosis - - - - - - - - Febrile infection-related epilepsy syndrome - - - - - - - - Painful orbital and systemic neurofibromas-marfanoid habitus syndrome - - - - - - - - Onychocytic matricoma - - - - - - - - Nestor-Guillermo progeria syndrome - - - - - - - - Chondrodysplasia with joint dislocations, gPAPP type - - - - - - - - Hereditary sensorimotor neuropathy with hyperelastic skin - - - - - - - - Multifocal motor neuropathy - - - - - - - - Cardiomyopathy-cataract-hip spine disease syndrome - - - - - - - - - Cardiomyopathy, dilated, 1a - - - - - - - - Recurrent respiratory papillomatosis - - - - - - - - 3MC syndrome - - - - - - - - Carney complex - - - - - - - - Infant acute respiratory distress syndrome - - - - - - - - Carnitine palmitoyl transferase 1A deficiency - - - - - - - - Carnitine palmitoyltransferase II deficiency - - - - - - - - Carnitine-acylcarnitine translocase deficiency - - - - - - - - Carpotarsal osteochondromatosis - - - - - - - - Idiopathic chronic eosinophilic pneumonia - - - - - - - - X-linked intellectual disability, Stocco Dos Santos type - - - - - - - - Autosomal recessive palmoplantar keratoderma and congenital alopecia - - - - - - - - X-linked Charcot-Marie-Tooth disease type 5 - - - - - - - - Early-onset anterior polar cataract - - - - - - - - Cataract-ataxia-deafness syndrome - - - - - - - - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - - - - - - - - Cataract 4, multiple types - - - - - - - - Cataract-microcornea syndrome - - - - - - - - Total early-onset cataract - - - - - - - - Alpha-N-acetylgalactosaminidase deficiency type 1 - - - - - - - - Cataract-glaucoma syndrome - - - - - - - - Caudal appendage-deafness syndrome - - - - - - - - Caudal duplication - - - - - - - - Acrocardiofacial syndrome - - - - - - - - Schinzel-Giedion syndrome - - - - - - - - Ulnar-mammary syndrome - - - - - - - - Ameloblastic carcinoma - - - - - - - - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome - - - - - - - - Cerebellar ataxia-ectodermal dysplasia syndrome - - - - - - - - Peroxisome biogenesis disorder - - - - - - - - Spinal arteriovenous metameric syndrome - - - - - - - - Mandibuloacral dysplasia - - - - - - - - Pulmonary alveolar microlithiasis - - - - - - - - Pellucid marginal degeneration - - - - - - - - Progressive cone dystrophy - - - - - - - - Linear lichen planus - - - - - - - - Neurodegeneration with brain iron accumulation - - - - - - - - Juvenile amyotrophic lateral sclerosis - - - - - - - - Congenital myasthenic syndrome - - - - - - - - Immunodeficiency due to selective anti-polysaccharide antibody deficiency - - - - - - - - Capillary malformation-arteriovenous malformation - - - - - - - - Cylindrical spirals myopathy - - - - - - - - Acute panmyelosis with myelofibrosis - - - - - - - - Dirofilariasis - - - - - - - - Autosomal recessive progressive external ophthalmoplegia - - - - - - - - Atypical Werner syndrome - - - - - - - - Deafness-infertility syndrome - - - - - - - - Heritable pulmonary arterial hypertension - - - - - - - - Cap myopathy - - - - - - - - Autosomal dominant nocturnal frontal lobe epilepsy - - - - - - - - Small cell carcinoma of the bladder - - - - - - - - X-linked centronuclear myopathy - - - - - - - - Hereditary sensory neuropathy-deafness-dementia syndrome - - - - - - - - Endosteal sclerosis-cerebellar hypoplasia syndrome - - - - - - - - Rhabdomyosarcoma - - - - - - - - Non-Hodgkin lymphoma - - - - - - - - Cerebellar hypoplasia-tapetoretinal degeneration syndrome - - - - - - - - Familial partial lipodystrophy - - - - - - - - Renal nutcracker syndrome - - - - - - - - Autosomal dominant optic atrophy - - - - - - - - Angioimmunoblastic T-cell lymphoma - - - - - - - - 3q29 microdeletion syndrome - - - - - - - - Autoimmune encephalitis - - - - - - - - Hypomyelination-congenital cataract syndrome - - - - - - - - Primary membranoproliferative glomerulonephritis - - - - - - - - Activated PI3K-delta syndrome - - - - - - - - Hereditary pheochromocytoma-paraganglioma - - - - - - - - 48,XYYY syndrome - - - - - - - - Autosomal recessive cerebelloparenchymal disorder type 3 - - - - - - - - Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies - - - - - - - - Hypersensitivity pneumonitis - - - - - - - - Hydrocephaly-cerebellar agenesis syndrome - - - - - - - - Congenital tracheal stenosis - - - - - - - - Isolated biliary atresia - - - - - - - - Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - - - - - - - - Lipoblastoma - - - - - - - - Primary melanoma of the central nervous system - - - - - - - - Differentiated thyroid carcinoma - - - - - - - - Levocardia - - - - - - - - Nemaline myopathy - - - - - - - - Facial onset sensory and motor neuronopathy - - - - - - - - Immunotactoid glomerulopathy - - - - - - - - GM3 synthase deficiency - - - - - - - - Visual snow syndrome - - - - - - - - Oculo-auriculo-vertebral spectrum - - - - - - - - 7q11.23 microduplication syndrome - - - - - - - - Isolated microphthalmia-anophthalmia-coloboma - - - - - - - - Lysosomal acid lipase deficiency - - - - - - - - Cholesteryl ester storage disease - - - - - - - - Focal facial dermal dysplasia type III - - - - - - - - Cerebrofaciothoracic dysplasia - - - - - - - - Autosomal dominant non-syndromic intellectual disability - - - - - - - - Trichothiodystrophy - - - - - - - - Autosomal recessive primary microcephaly - - - - - - - - Congenital absence of upper arm and forearm with hand present - - - - - - - - Macrophage activation syndrome - - - - - - - - Plasmablastic lymphoma - - - - - - - - Methylmalonic acidemia with homocystinuria, type cblC - - - - - - - - Dopa-responsive dystonia - - - - - - - - Reducing body myopathy - - - - - - - - Brain-lung-thyroid syndrome - - - - - - - - 5q14.3 microdeletion syndrome - - - - - - - - Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations - - - - - - - - CDKL5-deficiency disorder - - - - - - - - CLN10 disease - - - - - - - - Benign recurrent intrahepatic cholestasis - - - - - - - - CLN1 disease - - - - - - - - Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome - - - - - - - - Singleton-Merten dysplasia - - - - - - - - CLN7 disease - - - - - - - - 15q24 microdeletion syndrome - - - - - - - - CLN4B disease - - - - - - - - CLN5 disease - - - - - - - - Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia - - - - - - - - Autosomal recessive ataxia, Beauce type - - - - - - - - CLN6 disease - - - - - - - - Familial lipoprotein lipase deficiency - - - - - - - - New-onset refractory status epilepticus - - - - - - - - Isolated ectopia lentis - - - - - - - - T-cell/histiocyte rich large B cell lymphoma - - - - - - - - Cervical hypertrichosis-peripheral neuropathy syndrome - - - - - - - - COL4A1-related familial vascular leukoencephalopathy - - - - - - - - Congenital insensitivity to pain-anosmia-neuropathic arthropathy - - - - - - - - Central congenital hypothyroidism - - - - - - - - Chronic atrial and intestinal dysrhythmia syndrome - - - - - - - - Lissencephaly - - - - - - - - Bradyopsia - - - - - - - - Pelizaeus-Merzbacher-like disease - - - - - - - - Thomsen and Becker disease - - - - - - - - Celiac artery compression syndrome - - - - - - - - Congenital lactase deficiency - - - - - - - - IMAGe syndrome - - - - - - - - Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome - - - - - - - - Alacrimia-choreoathetosis-liver dysfunction syndrome - - - - - - - - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency - - - - - - - - Hereditary sensory and autonomic neuropathy type 5 - - - - - - - - CHAND syndrome - - - - - - - - Intestinal lymphangiectasia - - - - - - - - Carcinosarcoma of the corpus uteri - - - - - - - - Transcobalamin deficiency - - - - - - - - Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome - - - - - - - - Rare lichen planus - - - - - - - - Dihydropyrimidinuria - - - - - - - - COG5-CDG - - - - - - - - Multifocal atrial tachycardia - - - - - - - - - Breast-ovarian cancer, familial, susceptibility to, 1 - - - - - - - - - Breast-ovarian cancer, familial, susceptibility to, 2 - - - - - - - - Autosomal recessive axonal neuropathy with neuromyotonia - - - - - - - - Distal renal tubular acidosis with anemia - - - - - - - - - Loeys-dietz syndrome 5 - - - - - - - - STING-associated vasculopathy with onset in infancy - - - - - - - - Microcytic anemia with liver iron overload - - - - - - - - Familial hyperaldosteronism type III - - - - - - - - Spinocerebellar ataxia type 19/22 - - - - - - - - Spinocerebellar ataxia type 35 - - - - - - - - Spinocerebellar ataxia type 36 - - - - - - - - Spinocerebellar ataxia type 37 - - - - - - - - Spinocerebellar ataxia type 38 - - - - - - - - Char syndrome - - - - - - - - Spinocerebellar ataxia type 40 - - - - - - - - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome - - - - - - - - Idiopathic CD4 lymphocytopenia - - - - - - - - Sudden infant death-dysgenesis of the testes syndrome - - - - - - - - Vasculitis due to ADA2 deficiency - - - - - - - - Hypopigmentation-punctate palmoplantar keratoderma syndrome - - - - - - - - Male infertility due to large-headed multiflagellar polyploid spermatozoa - - - - - - - - Proximal 16p11.2 microduplication syndrome - - - - - - - - Schnitzler syndrome - - - - - - - - - Developmental and epileptic encephalopathy 26 - - - - - - - - DK1-CDG - - - - - - - - RFT1-CDG - - - - - - - - DPM3-CDG - - - - - - - - ALG11-CDG - - - - - - - - SRD5A3-CDG - - - - - - - - DDOST-CDG - - - - - - - - X-linked Charcot-Marie-Tooth disease type 4 - - - - - - - - ALG13-CDG - - - - - - - - SLC35A2-CDG - - - - - - - - - Alacrima, achalasia, and mental retardation syndrome - - - - - - - - SSR4-CDG - - - - - - - - SLC35A1-CDG - - - - - - - - COG8-CDG - - - - - - - - COG4-CDG - - - - - - - - TMEM165-CDG - - - - - - - - Congenital muscular dystrophy with intellectual disability and severe epilepsy - - - - - - - - MAN1B1-CDG - - - - - - - - Partial duplication of the short arm of chromosome X - - - - - - - - Congenital intrauterine infection-like syndrome - - - - - - - - Cutaneous collagenous vasculopathy - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2N - - - - - - - - X-linked Charcot-Marie-Tooth disease type 2 - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2 - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2L - - - - - - - - Charcot-Marie-Tooth disease type 1 - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2O - - - - - - - - Charcot-Marie-Tooth disease type 2P - - - - - - - - Autosomal dominant intermediate Charcot-Marie-Tooth disease - - - - - - - - Autosomal dominant intermediate Charcot-Marie-Tooth disease type A - - - - - - - - Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - - - - - - - - Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - - - - - - - - X-linked Charcot-Marie-Tooth disease type 3 - - - - - - - - Charcot-Marie-Tooth disease type 4 - - - - - - - - Charcot-Marie-Tooth disease type 4F - - - - - - - - Charcot-Marie-Tooth disease type 4H - - - - - - - - Charcot-Marie-Tooth disease type 4J - - - - - - - - X-linked Charcot-Marie-Tooth disease - - - - - - - - X-linked Charcot-Marie-Tooth disease type 6 - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2Q - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons - - - - - - - - Autosomal recessive Charcot-Marie-Tooth disease with hoarseness - - - - - - - - Autosomal recessive axonal hereditary motor and sensory neuropathy - - - - - - - - Charcot-Marie-Tooth disease type 1A - - - - - - - - Charcot-Marie-Tooth disease type 2R - - - - - - - - Autosomal recessive intermediate Charcot-Marie-Tooth disease - - - - - - - - Autosomal recessive intermediate Charcot-Marie-Tooth disease type A - - - - - - - - Autosomal recessive intermediate Charcot-Marie-Tooth disease type B - - - - - - - - Sickle cell-hemoglobin D disease syndrome - - - - - - - - Sickle cell disease associated with another hemoglobin anomaly - - - - - - - - Charcot-Marie-Tooth disease type 1B - - - - - - - - Glutaric acidemia type 3 - - - - - - - - Charcot-Marie-Tooth disease type 1C - - - - - - - - Peroxisomal beta-oxidation disorder - - - - - - - - Leukoencephalopathy-dystonia-motor neuropathy syndrome - - - - - - - - CADDS - - - - - - - - Periodontal Ehlers-Danlos syndrome - - - - - - - - Disorder of peroxisomal alpha-, beta- and omega-oxidation - - - - - - - - Bleeding disorder due to P2Y12 defect - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2A1 - - - - - - - - Tetrasomy 21 - - - - - - - - Cor triatriatum dexter - - - - - - - - Cor triatriatum sinister - - - - - - - - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - - - - - - - Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome - - - - - - - - Charcot-Marie-Tooth disease type 2B2 - - - - - - - - X-linked lissencephaly with abnormal genitalia - - - - - - - - 20p12.3 microdeletion syndrome - - - - - - - - Aromatase excess syndrome - - - - - - - - Acrokeratoelastoidosis of Costa - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2C - - - - - - - - Intellectual disability-severe speech delay-mild dysmorphism syndrome - - - - - - - - Male infertility due to globozoospermia - - - - - - - - Atypical Gaucher disease due to saposin C deficiency - - - - - - - - Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome - - - - - - - - Encephalopathy due to prosaposin deficiency - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2D - - - - - - - - Gangliosidosis - - - - - - - - Lipid storage disease - - - - - - - - Male infertility with spermatogenesis disorder due to single gene mutation - - - - - - - - Charcot-Marie-Tooth disease type 4A - - - - - - - - IgG4-related disease - - - - - - - - L1 syndrome - - - - - - - - X-linked complicated spastic paraplegia type 1 - - - - - - - - X-linked complicated corpus callosum dysgenesis - - - - - - - - DNAJB6-related limb-girdle muscular dystrophy D1 - - - - - - - - Charcot-Marie-Tooth disease type 4B1 - - - - - - - - TNP03-related limb-girdle muscular dystrophy D2 - - - - - - - - HNRNPDL-related limb-girdle muscular dystrophy D3 - - - - - - - - Autosomal dominant limb-girdle muscular dystrophy type 1H - - - - - - - - FKRP-related limb-girdle muscular dystrophy R9 - - - - - - - - Titin-related limb-girdle muscular dystrophy R10 - - - - - - - - POMT1-related limb-girdle muscular dystrophy R11 - - - - - - - - Anoctamin-5-related limb-girdle muscular dystrophy R12 - - - - - - - - Fukutin-related limb-girdle muscular dystrophy R13 - - - - - - - - POMT2-related limb-girdle muscular dystrophy R14 - - - - - - - - POMGNT1-related limb-girdle muscular dystrophy R15 - - - - - - - - Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 - - - - - - - - Plectin-related limb-girdle muscular dystrophy R17 - - - - - - - - TRAPPC11-related limb-girdle muscular dystrophy R18 - - - - - - - - GMPPB-related limb-girdle muscular dystrophy R19 - - - - - - - - Selective IgM deficiency - - - - - - - - Isolated congenital adermatoglyphia - - - - - - - - Familial congenital mirror movements - - - - - - - - Non-acquired isolated growth hormone deficiency - - - - - - - - - Intellectual developmental disorder, autosomal dominant 5 - - - - - - - - Hurler syndrome - - - - - - - - Hurler-Scheie syndrome - - - - - - - - Scheie syndrome - - - - - - - - Mucopolysaccharidosis type 4 - - - - - - - - PLA2G6-associated neurodegeneration - - - - - - - - Adult-onset dystonia-parkinsonism - - - - - - - - Mitochondrial membrane protein-associated neurodegeneration - - - - - - - - Beta-propeller protein-associated neurodegeneration - - - - - - - - COASY protein-associated neurodegeneration - - - - - - - - X-linked Charcot-Marie-Tooth disease type 1 - - - - - - - - Congenital muscular dystrophy due to dystroglycanopathy - - - - - - - - Congenital muscular dystrophy due to LMNA mutation - - - - - - - - Congenital muscular dystrophy type 1B - - - - - - - - Congenital muscular dystrophy with integrin alpha-7 deficiency - - - - - - - - Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies - - - - - - - - Congenital fibrosis of extraocular muscles - - - - - - - - Hereditary myopathy with early respiratory failure - - - - - - - - Oculopharyngodistal myopathy - - - - - - - - Primary lipodystrophy - - - - - - - - Genetic lipodystrophy - - - - - - - - Familial partial lipodystrophy, Köbberling type - - - - - - - - AKT2-related familial partial lipodystrophy - - - - - - - - PPARG-related familial partial lipodystrophy - - - - - - - - PLIN1-related familial partial lipodystrophy - - - - - - - - Acquired lipodystrophy - - - - - - - - Acquired generalized lipodystrophy - - - - - - - - Lipodystrophy due to peptidic growth factors deficiency - - - - - - - - Charlie M syndrome - - - - - - - - SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome - - - - - - - - Cardiac-valvular Ehlers-Danlos syndrome - - - - - - - - Methylmalonic acidemia with homocystinuria, type cblJ - - - - - - - - Vitamin B12-responsive methylmalonic acidemia - - - - - - - - Stapes ankylosis with broad thumbs and toes - - - - - - - - Multiple mitochondrial dysfunctions syndrome - - - - - - - - Laurence-Moon syndrome - - - - - - - - Bacterial susceptibility due to TLR signaling pathway deficiency - - - - - - - - Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - - - - - - - - Frontonasal dysplasia-alopecia-genital anomalies syndrome - - - - - - - - Frontorhiny - - - - - - - - Lethal congenital contracture syndrome - - - - - - - - Lethal congenital contracture syndrome type 3 - - - - - - - - - Lethal congenital contracture syndrome 4 - - - - - - - - Isolated congenital megalocornea - - - - - - - - Amoebiasis due to free-living amoebae - - - - - - - - Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome - - - - - - - - DOCK2 deficiency - - - - - - - - Castleman disease - - - - - - - - Cerebrofacial arteriovenous metameric syndrome - - - - - - - - Facial arteriovenous malformation - - - - - - - - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - - - - - - - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - - - - - - - - X-linked intellectual disability, Najm type - - - - - - - - Actinic lichen planus - - - - - - - - Annular lichen planus - - - - - - - - Atrophic lichen planus - - - - - - - - Annular atrophic lichen planus - - - - - - - - Lichen planus pemphigoides - - - - - - - - Lipoic acid synthetase deficiency - - - - - - - - Lipoic acid biosynthesis defect - - - - - - - - Lipoyl transferase 1 deficiency - - - - - - - - Childhood-onset spasticity with hyperglycinemia - - - - - - - - Horizontal gaze palsy with progressive scoliosis - - - - - - - - Distal hereditary motor neuropathy - - - - - - - - Familial episodic pain syndrome - - - - - - - - Diffuse cutaneous mastocytosis - - - - - - - - Cutaneous mastocytoma - - - - - - - - Hereditary sensory and autonomic neuropathy - - - - - - - - Tumor of cranial and spinal nerves - - - - - - - - Perineurioma - - - - - - - - Summitt syndrome - - - - - - - - Osteochondritis dissecans - - - - - - - - Osteochondrosis - - - - - - - - Painful legs and moving toes syndrome - - - - - - - - Congenital laryngeal palsy - - - - - - - - X-linked intellectual disability-hypotonia-movement disorder syndrome - - - - - - - - Elastoderma - - - - - - - - Autosomal recessive centronuclear myopathy - - - - - - - - Autosomal dominant centronuclear myopathy - - - - - - - - Fingerprint body myopathy - - - - - - - - Familial dyskinesia and facial myokymia - - - - - - - - Periventricular nodular heterotopia - - - - - - - - X-linked hereditary sensory and autonomic neuropathy with deafness - - - - - - - - Hereditary sensory and autonomic neuropathy type 7 - - - - - - - - Rare hereditary disease with peripheral neuropathy - - - - - - - - Glomerular disease - - - - - - - - Pierre Robin syndrome-faciodigital anomaly syndrome - - - - - - - - Non-amyloid fibrillary glomerulopathy - - - - - - - - Immunotactoid or fibrillary glomerulopathy - - - - - - - - Juvenile polymyositis - - - - - - - - Chronic intestinal pseudoobstruction - - - - - - - - Autosomal recessive spastic paraplegia type 32 - - - - - - - - Acute myeloid leukemia - - - - - - - - Acute myeloid leukemia with recurrent genetic anomaly - - - - - - - - Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) - - - - - - - - Unclassified acute myeloid leukemia - - - - - - - - Acute myeloid leukaemia with myelodysplasia-related features - - - - - - - - Therapy related acute myeloid leukemia and myelodysplastic syndrome - - - - - - - - Myeloid sarcoma - - - - - - - - Transient myeloproliferative syndrome - - - - - - - - Microduplication Xp11.22p11.23 syndrome - - - - - - - - Reversible cerebral vasoconstriction syndrome - - - - - - - - Rare malignant breast tumor - - - - - - - - Rare adenocarcinoma of the breast - - - - - - - - Salivary gland type cancer of the breast - - - - - - - - Rare benign breast tumor - - - - - - - - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - - - - - - - - Familial retinal arterial macroaneurysm - - - - - - - - Multiple congenital anomalies-hypotonia-seizures syndrome - - - - - - - - Congenital disorder of glycosylation with developmental anomaly - - - - - - - - Livedoid vasculopathy - - - - - - - - Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form - - - - - - - - Dentinogenesis imperfecta type 2 - - - - - - - - Early-onset autosomal dominant Alzheimer disease - - - - - - - - - Alzheimer disease 2 - - - - - - - - Primary sclerosing cholangitis - - - - - - - - PTEN hamartoma tumor syndrome - - - - - - - - Proteus-like syndrome - - - - - - - - Autosomal dominant spondylocostal dysostosis - - - - - - - - - Spondylocostal dysostosis 6, autosomal recessive - - - - - - - - Multisystemic smooth muscle dysfunction syndrome - - - - - - - - 8q24.3 microdeletion syndrome - - - - - - - - Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome - - - - - - - - 8q12 microduplication syndrome - - - - - - - - Generalized pustular psoriasis - - - - - - - - Pustulosis palmaris et plantaris - - - - - - - - Severe congenital nemaline myopathy - - - - - - - - Typical nemaline myopathy - - - - - - - - Intermediate nemaline myopathy - - - - - - - - Adult-onset nemaline myopathy - - - - - - - - FOXG1 syndrome - - - - - - - - Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome - - - - - - - - Pulmonary non-tuberculous mycobacterial infection - - - - - - - - - Cardiomyopathy, dilated, 1s - - - - - - - - Acute interstitial pneumonia - - - - - - - - Disseminated peritoneal leiomyomatosis - - - - - - - - High myopia-sensorineural deafness syndrome - - - - - - - - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome - - - - - - - - - Intellectual developmental disorder, autosomal dominant 6, with or without seizures - - - - - - - - Paroxysmal extreme pain disorder - - - - - - - - Spinocerebellar ataxia with axonal neuropathy type 2 - - - - - - - - RFVT3-related riboflavin transporter deficiency - - - - - - - - Generalized peeling skin syndrome - - - - - - - - Acral peeling skin syndrome - - - - - - - - Hyperlipidemia due to hepatic triacylglycerol lipase deficiency - - - - - - - - Cushing disease - - - - - - - - IRVAN syndrome - - - - - - - - - Osteogenesis imperfecta, type x - - - - - - - - - - Osteogenesis imperfecta, type xi - - - - - - - - Progressive familial intrahepatic cholestasis type 2 - - - - - - - - Isolated childhood apraxia of speech - - - - - - - - Progressive familial intrahepatic cholestasis type 3 - - - - - - - - Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - - - - - - - - Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome - - - - - - - - Zika virus disease - - - - - - - - - - Developmental and epileptic encephalopathy 4 - - - - - - - - - Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta - - - - - - - - Optic atrophy-intellectual disability syndrome - - - - - - - - Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome - - - - - - - - X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency - - - - - - - - Rh deficiency syndrome - - - - - - - - Malignant migrating focal seizures of infancy - - - - - - - - Familial calcium pyrophosphate deposition - - - - - - - - Late-onset junctional epidermolysis bullosa - - - - - - - - Intermediate generalized junctional epidermolysis bullosa - - - - - - - - Localized junctional epidermolysis bullosa - - - - - - - - Preeclampsia - - - - - - - - Familial multiple lipomatosis - - - - - - - - Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma - - - - - - - - Astrocytoma - - - - - - - - ADNP syndrome - - - - - - - - X-linked hypophosphatemia - - - - - - - - - Developmental and epileptic encephalopathy 5 - - - - - - - - - C1q deficiency - - - - - - - - Primary orthostatic hypotension - - - - - - - - Brachytelephalangic chondrodysplasia punctata - - - - - - - - MEGDEL syndrome - - - - - - - - Dilated cardiomyopathy with ataxia - - - - - - - - 3-methylglutaconic aciduria - - - - - - - - Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency - - - - - - - - Mendelian susceptibility to mycobacterial diseases - - - - - - - - Proximal myopathy with extrapyramidal signs - - - - - - - - Monoclonal mast cell activation syndrome - - - - - - - - Hereditary folate malabsorption - - - - - - - - Acyl-CoA dehydrogenase 9 deficiency - - - - - - - - Hereditary sensory and autonomic neuropathy type 6 - - - - - - - - Aquagenic palmoplantar keratoderma - - - - - - - - Aniridia-cerebellar ataxia-intellectual disability syndrome - - - - - - - - Acromesomelic dysplasia, Grebe type - - - - - - - - Lupus erythematosus tumidus - - - - - - - - Hepatic veno-occlusive disease - - - - - - - - Hemoglobin M disease - - - - - - - - Ellis Van Creveld syndrome - - - - - - - - Anti-neutrophil cytoplasmic antibody-associated vasculitis - - - - - - - - Obesity due to congenital leptin deficiency - - - - - - - - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome - - - - - - - - - Mitochondrial short-chain enoyl-coa hydratase 1 deficiency - - - - - - - - Microcystic lymphatic malformation - - - - - - - - Woolly hair nevus - - - - - - - - Chordoma - - - - - - - - Deafness-lymphedema-leukemia syndrome - - - - - - - - Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation - - - - - - - - Neuroendocrine tumor of pancreas - - - - - - - - Necrobiosis lipoidica - - - - - - - - - Thrombophilia due to protein c deficiency, autosomal recessive - - - - - - - - Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome - - - - - - - - Giant cell tumor of bone - - - - - - - - Germ cell tumor of testis - - - - - - - - Benign hereditary chorea - - - - - - - - Congenital analbuminemia - - - - - - - - Autosomal dominant multiple pterygium syndrome - - - - - - - - Distal arthrogryposis type 5D - - - - - - - - KCNQ2-related epileptic encephalopathy - - - - - - - - Bockenheimer syndrome - - - - - - - - Lewis-Sumner syndrome - - - - - - - - Primary hypomagnesemia with secondary hypocalcemia - - - - - - - - Nevus comedonicus syndrome - - - - - - - - Diffuse intrinsic pontine glioma - - - - - - - - - Developmental and epileptic encephalopathy 13 - - - - - - - - Corticosteroid-binding globulin deficiency - - - - - - - - Dent disease - - - - - - - - MIRAGE syndrome - - - - - - - - Progressive encephalomyelitis with rigidity and myoclonus - - - - - - - - Ataxia-oculomotor apraxia type 4 - - - - - - - - - Ataxia-oculomotor apraxia 3 - - - - - - - - - Infantile liver failure syndrome 2 - - - - - - - - Acute infantile liver failure-multisystemic involvement syndrome - - - - - - - - Chronic thromboembolic pulmonary hypertension - - - - - - - - CIDEC-related familial partial lipodystrophy - - - - - - - - LIPE-related familial partial lipodystrophy - - - - - - - - Infantile choroidocerebral calcification syndrome - - - - - - - - - - Intellectual developmental disorder, autosomal dominant 30 - - - - - - - - Methylmalonic acidemia with homocystinuria, type cblX - - - - - - - - Acute flaccid myelitis - - - - - - - - Tibial muscular dystrophy - - - - - - - - Early-onset lamellar cataract - - - - - - - - Oligodendroglial tumor - - - - - - - - Hereditary papillary renal cell carcinoma - - - - - - - - Staphylococcal scalded skin syndrome - - - - - - - - Rhizomelic chondrodysplasia punctata - - - - - - - - Methylmalonic acidemia without homocystinuria - - - - - - - - Familial isolated trichomegaly - - - - - - - - Corticobasal syndrome - - - - - - - - CHST3-related skeletal dysplasia - - - - - - - - Autosomal recessive brachyolmia - - - - - - - - Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG - - - - - - - - - Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 - - - - - - - - Renal medullary carcinoma - - - - - - - - S-adenosylhomocysteine hydrolase deficiency - - - - - - - - - Intellectual developmental disorder, autosomal dominant 43 - - - - - - - - Xanthoma disseminatum - - - - - - - - Chromomycosis - - - - - - - - - - Developmental and epileptic encephalopathy 94 - - - - - - - - Infantile-onset periodic fever-panniculitis-dermatosis syndrome - - - - - - - - Cystic leukoencephalopathy without megalencephaly - - - - - - - - Primary cutaneous amyloidosis - - - - - - - - Ring chromosome 1 syndrome - - - - - - - - Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - - - - - - - - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - - - - - - - - Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency - - - - - - - - 2q32q33 microdeletion syndrome - - - - - - - - Pituitary stalk interruption syndrome - - - - - - - - Renal cell carcinoma - - - - - - - - Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome - - - - - - - - BAP1-related tumor predisposition syndrome - - - - - - - - Ring chromosome 10 syndrome - - - - - - - - Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome - - - - - - - - BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy - - - - - - - - Distal monosomy 10p - - - - - - - - Familial acute necrotizing encephalopathy - - - - - - - - - Microphthalmia, syndromic 12 - - - - - - - - Marginal zone lymphoma - - - - - - - - X-linked intellectual disability, Cabezas type - - - - - - - - Ring chromosome 12 syndrome - - - - - - - - IgG4-related pachymeningitis - - - - - - - - Bainbridge-Ropers syndrome - - - - - - - - Infantile cerebellar-retinal degeneration - - - - - - - - Mosaic trisomy 14 - - - - - - - - Phosphoserine aminotransferase deficiency, infantile/juvenile form - - - - - - - - Ring chromosome 15 syndrome - - - - - - - - Bleeding diathesis due to glycoprotein VI deficiency - - - - - - - - Familial focal epilepsy with variable foci - - - - - - - - 17q12 microduplication syndrome - - - - - - - - 17q12 microdeletion syndrome - - - - - - - - Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - - - - - - - - MAGEL2-related Prader-Willi-like syndrome - - - - - - - - - - Developmental and epileptic encephalopathy 12 - - - - - - - - Fatty acyl-CoA reductase 1 deficiency - - - - - - - - Rhizomelic chondrodysplasia punctata type 5 - - - - - - - - Ring chromosome 19 syndrome - - - - - - - - Familial reactive perforating collagenosis - - - - - - - - Idiopathic interstitial pneumonia - - - - - - - - BENTA disease - - - - - - - - Ring chromosome 20 syndrome - - - - - - - - Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome - - - - - - - - Morning glory disc anomaly - - - - - - - - Ring chromosome 22 syndrome - - - - - - - - MAGIC syndrome - - - - - - - - - Epiphyseal dysplasia, multiple, 6 - - - - - - - - - Developmental and epileptic encephalopathy 17 - - - - - - - - - Intellectual developmental disorder, autosomal dominant 29 - - - - - - - - Congenital generalized lipodystrophy - - - - - - - - - Lipodystrophy, congenital generalized, type 3 - - - - - - - - Ring chromosome 4 syndrome - - - - - - - - 12q14 microdeletion syndrome - - - - - - - - 2p15p16.1 microdeletion syndrome - - - - - - - - Spondyloepimetaphyseal dysplasia congenita, Strudwick type - - - - - - - - AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome - - - - - - - - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation - - - - - - - - Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome - - - - - - - - Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome - - - - - - - - Temple syndrome - - - - - - - - Plasmacytoma - - - - - - - - PENS syndrome - - - - - - - - Ring chromosome 7 syndrome - - - - - - - - Kaposiform lymphangiomatosis - - - - - - - - REN-related autosomal dominant tubulointerstitial kidney disease - - - - - - - - Ring chromosome 8 syndrome - - - - - - - - FTH1-related iron overload - - - - - - - - Intellectual disability-epilepsy-extrapyramidal syndrome - - - - - - - - Ring chromosome 9 syndrome - - - - - - - - MEPAN syndrome - - - - - - - - Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome - - - - - - - - DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy - - - - - - - - - - Intellectual developmental disorder, autosomal dominant 56 - - - - - - - - DYRK1A-related intellectual disability syndrome - - - - - - - - - Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features - - - - - - - - CINCA syndrome - - - - - - - - Combined immunodeficiency due to LRBA deficiency - - - - - - - - Hereditary sensory and autonomic neuropathy due to TECPR2 mutation - - - - - - - - Childhood encephalopathy due to thiamine pyrophosphokinase deficiency - - - - - - - - Intellectual disability-myopathy-short stature-endocrine defect syndrome - - - - - - - - Combined immunodeficiency with granulomatosis - - - - - - - - Pontiac fever - - - - - - - - Chylous ascites - - - - - - - - Postural orthostatic tachycardia syndrome due to NET deficiency - - - - - - - - Severe congenital neutropenia - - - - - - - - Rosette-forming glioneuronal tumor - - - - - - - - Brain dopamine-serotonin vesicular transport disease - - - - - - - - - Ciliary discoordination due to random ciliary orientation - - - - - - - - Subcorneal pustular dermatosis - - - - - - - - - Ciliary dyskinesia with transposition of ciliary microtubules - - - - - - - - Pneumonia caused by Pseudomonas aeruginosa infection - - - - - - - - CAD-CDG - - - - - - - - Drug reaction with eosinophilia and systemic symptoms - - - - - - - - Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome - - - - - - - - X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability - - - - - - - - Classic galactosemia - - - - - - - - Familial cerebral cavernous malformation - - - - - - - - Mitochondrial DNA depletion syndrome - - - - - - - - Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - - - - - - - - Orofaciodigital syndrome type 14 - - - - - - - - Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder - - - - - - - - Classic multiminicore myopathy - - - - - - - - Familial sick sinus syndrome - - - - - - - - - Developmental and epileptic encephalopathy 18 - - - - - - - - - Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant - - - - - - - - Tibial aplasia-ectrodactyly syndrome - - - - - - - - Primary cutaneous follicle center lymphoma - - - - - - - - Warsaw breakage syndrome - - - - - - - - Combined immunodeficiency due to partial RAG1 deficiency - - - - - - - - T-cell prolymphocytic leukemia - - - - - - - - - Spastic paraplegia 51, autosomal recessive - - - - - - - - - Multicentric osteolysis, nodulosis, and arthropathy - - - - - - - - White-Sutton syndrome - - - - - - - - AICA-ribosiduria - - - - - - - - Luscan-Lumish syndrome - - - - - - - - CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome - - - - - - - - Fundus albipunctatus - - - - - - - - Malan overgrowth syndrome - - - - - - - - Familial steroid-resistant nephrotic syndrome with adrenal insufficiency - - - - - - - - Proteasome-associated autoinflammatory syndrome - - - - - - - - Familial atrial myxoma - - - - - - - - Cleft palate-lateral synechia syndrome - - - - - - - - Cleft palate-short stature-vertebral anomalies syndrome - - - - - - - - Cleft palate-stapes fixation-oligodontia syndrome - - - - - - - - X-linked cleft palate and ankyloglossia - - - - - - - - Atresia of small intestine - - - - - - - - Thanatophoric dysplasia type 2 - - - - - - - - - Micromelic bone dysplasia with cloverleaf skull - - - - - - - - Joubert syndrome with hepatic defect - - - - - - - - Cocaine embryofetopathy - - - - - - - - Cockayne syndrome type 1 - - - - - - - - Cockayne syndrome type 3 - - - - - - - - CODAS syndrome - - - - - - - - Cockayne syndrome type 2 - - - - - - - - Cogan syndrome - - - - - - - - Cole-Carpenter syndrome - - - - - - - - Dislocation of the hip-dysmorphism syndrome - - - - - - - - Hypertrichosis cubiti - - - - - - - - Coloboma of eye lens - - - - - - - - Coloboma of iris - - - - - - - - Coloboma of macula - - - - - - - - Coloboma of macula-brachydactyly type B syndrome - - - - - - - - Coloboma of optic disc - - - - - - - - Prominent glabella-microcephaly-hypogenitalism syndrome - - - - - - - - Uveal coloboma-cleft lip and palate-intellectual disability - - - - - - - - Anophthalmia/microphthalmia-esophageal atresia syndrome - - - - - - - - Colonic atresia - - - - - - - - - Complement component 2 deficiency - - - - - - - - Complete atrioventricular septal defect - - - - - - - - Conductive deafness-malformed external ear syndrome - - - - - - - - - Cone-rod dystrophy, x-linked, 2 - - - - - - - - Jalili syndrome - - - - - - - - Congenital lipoid adrenal hyperplasia due to STAR deficency - - - - - - - - Congenital adrenal hyperplasia - - - - - - - - Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - - - - - - - - - Alopecia, congenital - - - - - - - - Autosomal dominant congenital benign spinal muscular atrophy - - - - - - - - Congenital respiratory-biliary fistula - - - - - - - - Fetal cytomegalovirus syndrome - - - - - - - - Congenital diaphragmatic hernia - - - - - - - - Congenital hypothyroidism - - - - - - - - Congenital ichthyosis-microcephalus-tetraplegia syndrome - - - - - - - - Congenital mesoblastic nephroma - - - - - - - - Congenital mitral malformation - - - - - - - - Congenital mitral stenosis - - - - - - - - Congenital nephrotic syndrome, Finnish type - - - - - - - - LIG4 syndrome - - - - - - - - VEXAS syndrome - - - - - - - - - AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY - - - - - - - - Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome - - - - - - - - FADD-related immunodeficiency - - - - - - - - - PACAK-ZHUANG syndrome - - - - - - - - - STAT5 Haploinsuffciency - - - - - - - - - Warburg-Cinotti syndrome - - - - - - - - - Okur-Chung neurodevelopmental syndrome (OCNDS) - - - - - - - - Hereditary breast and ovarian cancer syndrome - - - - - - - - - Hypophosphatemic rickets, x-linked recessive - - - - - - - - Autosomal recessive malignant osteopetrosis - - - - - - - - Craniometaphyseal dysplasia - - - - - - - - Solitary fibrous tumor/hemangiopericytoma - - - - - - - - Achromatopsia - - - - - - - - Striate palmoplantar keratoderma - - - - - - - - Trichorhinophalangeal syndrome type 1 and 3 - - - - - - - - Interatrial communication - - - - - - - - Fibronectin glomerulopathy - - - - - - - - Short bowel syndrome - - - - - - - - Non-acquired panhypopituitarism - - - - - - - - Angioma serpiginosum - - - - - - - - Postsynaptic congenital myasthenic syndromes - - - - - - - - Presynaptic congenital myasthenic syndromes - - - - - - - - Multiple epiphyseal dysplasia due to collagen 9 anomaly - - - - - - - - Immunodeficiency due to a classical component pathway complement deficiency - - - - - - - - Hermansky-Pudlak syndrome due to AP-3 deficiency - - - - - - - - Pulmonary capillary hemangiomatosis - - - - - - - - Non-specific early-onset epileptic encephalopathy - - - - - - - - - Aarskog syndrome, autosomal dominant - - - - - - - - Femoral agenesis/hypoplasia - - - - - - - - - - Acrodysostosis 1 with or without hormone resistance - - - - - - - - - Acroosteolysis - - - - - - - - - Spermatogenic failure 6 - - - - - - - - - Adrenocortical hypofunction, chronic primary congenital - - - - - - - - - Allergic bronchopulmonary aspergillosis, familial - - - - - - - - - Alopecia areata 1 - - - - - - - - - Alternating hemiplegia of childhood 1 - - - - - - - - - Amelogenesis imperfecta, type ib - - - - - - - - - Amelogenesis imperfecta, type ia - - - - - - - - - Diamond-blackfan anemia 1 - - - - - - - - - Nail disorder, nonsyndromic congenital, 6 - - - - - - - - - Spermatogenic failure 2 - - - - - - - - - Leukemia, chronic lymphocytic, susceptibility to, 2 - - - - - - - - - Biliary cirrhosis, primary, 1 - - - - - - - - - Bifid nose, autosomal dominant - - - - - - - - - Breasts and/or nipples, aplasia or hypoplasia of, 1 - - - - - - - - - Cataract 7 - - - - - - - - - Cataract 1, multiple types - - - - - - - - - Sotos syndrome - - - - - - - - - Klippel-feil syndrome 1, autosomal dominant - - - - - - - - - Split-hand/foot malformation with long bone deficiency 1 - - - - - - - - - Familial cold autoinflammatory syndrome 1 - - - - - - - - - Lynch syndrome i - - - - - - - - - Branchiootic syndrome 2 - - - - - - - - - Seizures, benign familial neonatal, 2 - - - - - - - - - Cutis laxa, autosomal dominant 1 - - - - - - - - - Mitochondrial complex iii deficiency, nuclear type 1 - - - - - - - - - Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy - - - - - - - - - Diabetes insipidus, nephrogenic, 2, autosomal - - - - - - - - - Digitotalar dysmorphism - - - - - - - - - Basal laminar drusen - - - - - - - - - Dystonia 1, torsion, autosomal dominant - - - - - - - - - Ectopia lentis 1, isolated, autosomal dominant - - - - - - - - - Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 - - - - - - - - - Elliptocytosis 2 - - - - - - - - - Photoparoxysmal response 1 - - - - - - - - - Erythroleukemia, familial, susceptibility to - - - - - - - - - - - Cockayne syndrome b - - - - - - - - - Exudative vitreoretinopathy 1 - - - - - - - - - Familial mediterranean fever, autosomal dominant - - - - - - - - - Desmoid disease, hereditary - - - - - - - - - Zimmermann-laband syndrome 1 - - - - - - - - - Coffin-siris syndrome 1 - - - - - - - - - Hirschsprung disease, susceptibility to, 1 - - - - - - - - - Hyperlipidemia, familial combined, 3 - - - - - - - - - Hypotrichosis 4 - - - - - - - - - Cholestasis, intrahepatic, of pregnancy, 1 - - - - - - - - - Kaposi sarcoma, susceptibility to - - - - - - - - - Palmoplantar keratoderma, punctate type ia - - - - - - - - - Bernard-soulier syndrome, type a2, autosomal dominant - - - - - - - - - - 46,xy sex reversal 4 - - - - - - - - - Mirror movements 1 - - - - - - - - - Facioscapulohumeral muscular dystrophy 1 - - - - - - - - - Facioscapulohumeral muscular dystrophy 2, digenic - - - - - - - - - Muscular dystrophy, pseudohypertrophic, with internalized capillaries - - - - - - - - - Carney complex, type 1 - - - - - - - - - Narcolepsy 1 - - - - - - - - - Nasopharyngeal carcinoma, susceptibility to, 2 - - - - - - - - - Candidiasis, familial, 6 - - - - - - - - - Neurofibromatosis, type iii, mixed central and peripheral - - - - - - - - - Neuropathy, hereditary sensory and autonomic, type ia - - - - - - - - - Night blindness, congenital stationary, autosomal dominant 2 - - - - - - - - - Oculopharyngodistal myopathy 1 - - - - - - - - - Optic atrophy with demyelinating disease of cns - - - - - - - - - Optic atrophy 1 - - - - - - - - - Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures - - - - - - - - - Hypertrophic osteoarthropathy, primary, autosomal dominant - - - - - - - - - Pachyonychia congenita 1 - - - - - - - - - Pachyonychia congenita 2 - - - - - - - - - Pancreas, dorsal, agenesis of - - - - - - - - - Pheochromocytoma - - - - - - - - - Gist-plus syndrome - - - - - - - - - Brain small vessel disease 1 with or without ocular anomalies - - - - - - - - - Porokeratosis 1, multiple types - - - - - - - - - Retinal aplasia - - - - - - - - - Retinitis pigmentosa 10 - - - - - - - - - Retinopathy, pericentral pigmentary, dominant - - - - - - - - - Schistosoma mansoni infection, susceptibility/resistance to - - - - - - - - - Spinal arachnoiditis - - - - - - - - - Spondyloepiphyseal dysplasia tarda, autosomal dominant - - - - - - - - - Multiple synostoses syndrome 1 - - - - - - - - - Thoracolaryngopelvic dysplasia - - - - - - - - - Bleeding disorder, platelet-type, 17 - - - - - - - - - Digeorge syndrome - - - - - - - - - Thyrotoxic periodic paralysis, susceptibility to, 1 - - - - - - - - Hereditary continuous muscle fiber activity - - - - - - - - - Blount disease, infantile - - - - - - - - - Tuberous sclerosis 1 - - - - - - - - - Uncombable hair syndrome 1 - - - - - - - - - Velocardiofacial syndrome - - - - - - - - - Wilms tumor 1 - - - - - - - - - Wilms tumor 3 - - - - - - - - - Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema - - - - - - - - - Abetalipoproteinemia - - - - - - - - - Carpenter syndrome 1 - - - - - - - - - Neuropathy, hereditary sensory and autonomic, type iia - - - - - - - - Continuous spikes and waves during sleep - - - - - - - - - Acrorenal syndrome, autosomal recessive - - - - - - - - - Adrenal hypoplasia, cytomegalic type - - - - - - - - - Adrenocortical carcinoma, hereditary - - - - - - - - - Adrenocortical unresponsiveness to acth with postreceptor defect - - - - - - - - - - Peroxisome biogenesis disorder 2b - - - - - - - - - Alopecia universalis congenita - - - - - - - - - Amelogenesis imperfecta, type ic - - - - - - - - - Amyotrophic lateral sclerosis 2, juvenile - - - - - - - - - Amyotrophic lateral sclerosis with polyglucosan bodies - - - - - - - - - Arthrogryposis, renal dysfunction, and cholestasis 1 - - - - - - - - - Short-rib thoracic dysplasia 1 with or without polydactyly - - - - - - - - - Ataxia-telangiectasia with generalized skin pigmentation and early death - - - - - - - - - Bifid nose, autosomal recessive - - - - - - - - - Seckel syndrome 1 - - - - - - - - - Microcephalic osteodysplastic primordial dwarfism, type i - - - - - - - - - Microcephalic osteodysplastic primordial dwarfism, type iii - - - - - - - - - Tumoral calcinosis, hyperphosphatemic, familial, 1 - - - - - - - - - Cardiac lipidosis, familial - - - - - - - - - Peroxisome biogenesis disorder 2a (zellweger) - - - - - - - - Contractures-ectodermal dysplasia-cleft lip/palate syndrome - - - - - - - - - Cerebrooculofacioskeletal syndrome 1 - - - - - - - - - Klippel-feil syndrome 2, autosomal recessive - - - - - - - - - Chorea, benign familial - - - - - - - - - Coach syndrome 1 - - - - - - - - - - - Cockayne syndrome a - - - - - - - - - Complement component c1r/c1s deficiency - - - - - - - - - Craniodiaphyseal dysplasia - - - - - - - - - Cutis laxa, autosomal recessive, type ia - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 1 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 5 - - - - - - - - Restrictive dermopathy - - - - - - - - - Ritscher-schinzel syndrome 1 - - - - - - - - - Diaphragmatic hernia 2 - - - - - - - - - Meier-gorlin syndrome 1 - - - - - - - - - Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive - - - - - - - - - Ectopia lentis et pupillae - - - - - - - - - - - Hypothyroidism, congenital, nongoitrous, 5 - - - - - - - - - Split-hand/foot malformation 6 - - - - - - - - - Aicardi-goutieres syndrome 1 - - - - - - - - - Fanconi anemia, complementation group c - - - - - - - - - Fanconi anemia, complementation group d2 - - - - - - - - - Fanconi anemia, complementation group a - - - - - - - - - Fascial dystrophy, congenital - - - - - - - - - Geleophysic dysplasia 1 - - - - - - - - - Glycogen storage disease ic - - - - - - - - - 46,xy sex reversal 7 - - - - - - - - - Granulomatous disease, chronic, autosomal recessive, 4 - - - - - - - - - Granulomatous disease, chronic, autosomal recessive, 1 - - - - - - - - - Granulomatous disease, chronic, autosomal recessive, 2 - - - - - - - - - Hemolytic anemia with thermal sensitivity of red cells - - - - - - - - Benign familial neonatal-infantile seizures - - - - - - - - - Hemosiderosis, pulmonary, with deficiency of gamma-a globulin - - - - - - - - - Hennekam lymphangiectasia-lymphedema syndrome 1 - - - - - - - - - Hydrolethalus syndrome 1 - - - - - - - - - Hyperlysinemia due to defect in lysine transport into mitochondria - - - - - - - - - Immunodeficiency, common variable, 2 - - - - - - - - - Immunodeficiency 43 - - - - - - - - - Hypouricemia, hypercalcinuria, and decreased bone density - - - - - - - - - - Ichthyosis, congenital, autosomal recessive 2 - - - - - - - - - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 - - - - - - - - - Baraitser-winter syndrome 1 - - - - - - - - Benign familial neonatal epilepsy - - - - - - - - - Intrinsic factor and r binder, combined congenital deficiency of - - - - - - - - - Kuru, susceptibility to - - - - - - - - - Leprosy, susceptibility to, 3 - - - - - - - - - Split-hand/foot malformation 3 - - - - - - - - - Lymphokine deficiency - - - - - - - - - Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 - - - - - - - - - Methemoglobinemia and ambiguous genitalia - - - - - - - - - Methemoglobinemia due to deficiency of methemoglobin reductase - - - - - - - - - Microcephaly 1, primary, autosomal recessive - - - - - - - - - Galloway-mowat syndrome 1 - - - - - - - - - Microphthalmia, isolated, with coloboma 4 - - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 1 - - - - - - - - - Mitochondrial complex ii deficiency, nuclear type 1 - - - - - - - - - Monocyte chemotactic disorder - - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 - - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 - - - - - - - - - Myasthenic syndrome, congenital, 10 - - - - - - - - - Myopathy, myosin storage, autosomal recessive - - - - - - - - - Myopathy, centronuclear, 2 - - - - - - - - - - - - Nemaline myopathy 2 - - - - - - - - Menkes disease - - - - - - - - - Nephrotic syndrome, type 4 - - - - - - - - - Neuroblastoma, susceptibility to, 1 - - - - - - - - - Night blindness, congenital stationary, type 1b - - - - - - - - - Oculodentodigital dysplasia, autosomal recessive - - - - - - - - - Spermatogenic failure 1 - - - - - - - - - Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 - - - - - - - - - Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 - - - - - - - - - Blount disease, adolescent - - - - - - - - - Osteoporosis, juvenile - - - - - - - - - Pachyonychia congenita, autosomal recessive - - - - - - - - Familial benign copper deficiency - - - - - - - - - Pancreatic agenesis 1 - - - - - - - - - Shwachman-diamond syndrome 1 - - - - - - - - - - Pituitary hormone deficiency, combined, 2 - - - - - - - - - Gillessen-kaesbach-nishimura syndrome - - - - - - - - - Short-rib thoracic dysplasia 6 with or without polydactyly - - - - - - - - - Prenatal bowing - - - - - - - - - - Peroxisome biogenesis disorder 3b - - - - - - - - - Short-rib thoracic dysplasia 9 with or without polydactyly - - - - - - - - - Renal tubular acidosis iii - - - - - - - - - Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss - - - - - - - - - Retinitis pigmentosa, late-adult onset - - - - - - - - - Retinopathy, pericentral pigmentary, autosomal recessive - - - - - - - - - Rheumatic fever-related antigen - - - - - - - - - Sclerosteosis 1 - - - - - - - - - Seizures, benign familial neonatal, autosomal recessive - - - - - - - - - Spermatogenic failure 4 - - - - - - - - - Spherocytosis, type 3 - - - - - - - - - Spondyloepiphyseal dysplasia tarda, autosomal recessive - - - - - - - - - Tetraamelia syndrome 1 - - - - - - - - - Three m syndrome 1 - - - - - - - - - Glanzmann thrombasthenia 1 - - - - - - - - - Usher syndrome, type iia - - - - - - - - - Usher syndrome, type iiia - - - - - - - - - Vas deferens, congenital bilateral aplasia of - - - - - - - - - Pontocerebellar hypoplasia, type 2a - - - - - - - - - Waardenburg syndrome, type 4a - - - - - - - - - Weill-marchesani syndrome 1 - - - - - - - - - - Hypotrichosis 8 - - - - - - - - - Myopathy due to myoadenylate deaminase deficiency - - - - - - - - - 46,xx sex reversal 2 - - - - - - - - Spinocerebellar degeneration-corneal dystrophy syndrome - - - - - - - - - Ichthyosis, x-linked, without steroid sulfatase deficiency - - - - - - - - - Night blindness, congenital stationary, type 2a - - - - - - - - - Prostate cancer, hereditary, x-linked 1 - - - - - - - - - Intellectual developmental disorder, x-linked, syndromic, lubs type - - - - - - - - Progressive familial intrahepatic cholestasis - - - - - - - - - Polymicrogyria, bilateral perisylvian, x-linked - - - - - - - - - Fanconi anemia, complementation group b - - - - - - - - - Myopathy, congenital, with fiber-type disproportion, x-linked - - - - - - - - - Cornelia de lange syndrome 2 - - - - - - - - - Prostate cancer, hereditary, x-linked 2 - - - - - - - - - Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset - - - - - - - - - Reducing body myopathy, x-linked 1b, with late childhood or adult onset - - - - - - - - - Surfactant metabolism dysfunction, pulmonary, 4 - - - - - - - - - Intellectual developmental disorder, x-linked, syndromic, raymond type - - - - - - - - - Joubert syndrome 10 - - - - - - - - - Chromosome xq28 duplication syndrome - - - - - - - - - 46,xx sex reversal 3 - - - - - - - - - Macular degeneration, x-linked atrophic - - - - - - - - - Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia - - - - - - - - - Kabuki syndrome 2 - - - - - - - - - Cornelia de lange syndrome 5 - - - - - - - - - Linear skin defects with multiple congenital anomalies 2 - - - - - - - - - Olmsted syndrome, x-linked - - - - - - - - - Pituitary adenoma 2, growth hormone-secreting - - - - - - - - - Diamond-blackfan anemia 14 with mandibulofacial dysostosis - - - - - - - - - Linear skin defects with multiple congenital anomalies 3 - - - - - - - - - Trichothiodystrophy 5, nonphotosensitive - - - - - - - - - Ritscher-schinzel syndrome 2 - - - - - - - - - Vas deferens, congenital bilateral aplasia of, x-linked - - - - - - - - - Ciliary dyskinesia, primary, 36, x-linked - - - - - - - - - Galloway-mowat syndrome 2, x-linked - - - - - - - - - Intellectual developmental disorder, x-linked, syndromic, houge type - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 12 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 30 - - - - - - - - - Nephrotic syndrome, type 20 - - - - - - - - - Developmental and epileptic encephalopathy 90 - - - - - - - - - Cardiomyopathy, dilated, 3b - - - - - - - - - Diabetes insipidus, nephrogenic, 1, x-linked - - - - - - - - Corneal dystrophy-perceptive deafness syndrome - - - - - - - - - Dyggve-melchior-clausen syndrome, x-linked - - - - - - - - - Epidermodysplasia verruciformis, x-linked - - - - - - - - - Exudative vitreoretinopathy 2, x-linked - - - - - - - - - Frontometaphyseal dysplasia 1 - - - - - - - - - Granulomatous disease, chronic, x-linked - - - - - - - - - Hernia, anterior diaphragmatic - - - - - - - - - Hypouricemia, familial renal, due to tubular hypersecretion - - - - - - - - - Ifap syndrome 1, with or without bresheck syndrome - - - - - - - - - - Developmental and epileptic encephalopathy 1 - - - - - - - - - Keratosis follicularis spinulosa decalvans, x-linked - - - - - - - - - Leber hereditary optic neuropathy, modifier of - - - - - - - - - Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis - - - - - - - - - Spermatogenic failure, x-linked, 2 - - - - - - - - - Microphthalmia, syndromic 1 - - - - - - - - - Nephrolithiasis, x-linked recessive, with renal failure - - - - - - - - - Night blindness, congenital stationary, type 1a - - - - - - - - - Split-hand/foot malformation 2 - - - - - - - - - Vacterl association, x-linked, with or without hydrocephalus - - - - - - - - Corneodermatoosseous syndrome - - - - - - - - - Retinitis pigmentosa, y-linked - - - - - - - - - Leber optic atrophy and dystonia - - - - - - - - - Myopathy, lactic acidosis, and sideroblastic anemia 3 - - - - - - - - - Wolfram syndrome, mitochondrial form - - - - - - - - - Stargardt disease 3 - - - - - - - - - Hirschsprung disease, susceptibility to, 2 - - - - - - - - - Hirschsprung disease, susceptibility to, 5 - - - - - - - - - Muscular dystrophy, scapulohumeral - - - - - - - - - Epilepsy, nocturnal frontal lobe, 1 - - - - - - - - - Uv-sensitive syndrome 1 - - - - - - - - - Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement - - - - - - - - - - Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 - - - - - - - - - Cardiomyopathy, dilated, 1b - - - - - - - - - Fanconi anemia, complementation group e - - - - - - - - - Wiskott-aldrich syndrome, autosomal dominant - - - - - - - - - Nephrotic syndrome, type 2 - - - - - - - - - Cataract 24 - - - - - - - - - Wilms tumor 4 - - - - - - - - - Platelet disorder, familial, with associated myeloid malignancy - - - - - - - - Coronary arterial fistula - - - - - - - - - Myasthenic syndrome, congenital, 1a, slow-channel - - - - - - - - - Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction - - - - - - - - - Cardiomyopathy, dilated, 1d - - - - - - - - - Prostate cancer, hereditary, 1 - - - - - - - - - - Cataract 3, multiple types - - - - - - - - - Wilms tumor 5 - - - - - - - - - Exudative vitreoretinopathy 4 - - - - - - - - Coronary artery congenital malformation - - - - - - - - - Friedreich ataxia 2 - - - - - - - - - Fibrosis of extraocular muscles, congenital, 2 - - - - - - - - - Cone dystrophy 3 - - - - - - - - - Amyotrophic lateral sclerosis 5, juvenile - - - - - - - - - Nephropathy, progressive tubulointerstitial, with cholestatic liver disease - - - - - - - - - Auriculocondylar syndrome 1 - - - - - - - - - Chondrodysplasia punctata, brachytelephalangic, autosomal - - - - - - - - - Bartter syndrome, type 4a, neonatal, with sensorineural deafness - - - - - - - - - Ichthyosis, hystrix-like, with deafness - - - - - - - - - Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss - - - - - - - - - Prostate cancer, hereditary, 8 - - - - - - - - - Epilepsy, nocturnal frontal lobe, 2 - - - - - - - - - Focal segmental glomerulosclerosis 1 - - - - - - - - - Thyroid carcinoma, nonmedullary, with or without cell oxyphilia - - - - - - - - - Fanconi anemia, complementation group f - - - - - - - - - Cone-rod dystrophy 7 - - - - - - - - - Prostate cancer/brain cancer susceptibility - - - - - - - - - Papillary thyroid microcarcinoma - - - - - - - - - Stargardt disease 4 - - - - - - - - - Microcephaly with simplified gyral pattern - - - - - - - - - Autoimmune lymphoproliferative syndrome, type iia - - - - - - - - - Focal segmental glomerulosclerosis 2 - - - - - - - - - Cardiomyopathy, dilated, 1g - - - - - - - - - Cataract 9, multiple types - - - - - - - - - Cardiomyopathy, dilated, 1h - - - - - - - - - Microcephaly 2, primary, autosomal recessive, with or without cortical malformations - - - - - - - - - Microcephaly 4, primary, autosomal recessive - - - - - - - - - Advanced sleep phase syndrome, familial, 1 - - - - - - - - Corpus callosum agenesis-neuronopathy syndrome - - - - - - - - - Van der woude syndrome 1, modifier of - - - - - - - - - Cardiomyopathy, dilated, 1i - - - - - - - - - Microcephaly 3, primary, autosomal recessive - - - - - - - - - Wolfram syndrome 2 - - - - - - - - - Cortisone reductase deficiency 1 - - - - - - - - - Hypobetalipoproteinemia, familial, 2 - - - - - - - - - Carney complex, type 2 - - - - - - - - - Split-hand/foot malformation 4 - - - - - - - - - Optic atrophy 4 - - - - - - - - - Epilepsy, nocturnal frontal lobe, 3 - - - - - - - - - Cone-rod dystrophy 8 - - - - - - - - - Cardiomyopathy, dilated, 1k - - - - - - - - - Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 - - - - - - - - - Cerebellar ataxia and hypergonadotropic hypogonadism - - - - - - - - - Microphthalmia, isolated, with coloboma 2 - - - - - - - - - Exudative vitreoretinopathy 3 - - - - - - - - - Myasthenic syndrome, congenital, 4a, slow-channel - - - - - - - - - Narcolepsy 2, susceptibility to - - - - - - - - - Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 - - - - - - - - - Diamond-blackfan anemia 15 with mandibulofacial dysostosis - - - - - - - - - Thyroid cancer, nonmedullary, 3 - - - - - - - - - Maturity-onset diabetes of the young - - - - - - - - - - - Ichthyosis, congenital, autosomal recessive 3 - - - - - - - - - Melanoma, uveal, susceptibility to, 1 - - - - - - - - - Melanoma, uveal, susceptibility to, 2 - - - - - - - - - Waardenburg syndrome, type 2c - - - - - - - - - Cardiomyopathy, dilated, 1l - - - - - - - - - Split-hand/foot malformation 5 - - - - - - - - - Seckel syndrome 2 - - - - - - - - - Ciliary dyskinesia, primary, 2 - - - - - - - - - Pancreatic cancer, susceptibility to, 1 - - - - - - - - - Hirschsprung disease, susceptibility to, 6 - - - - - - - - - Hirschsprung disease, susceptibility to, 7 - - - - - - - - - Usher syndrome, type ig - - - - - - - - - Senior-loken syndrome 3 - - - - - - - - - Senior-loken syndrome 4 - - - - - - - - - Brachydactyly, type a1, b - - - - - - - - - Aortic aneurysm, familial thoracic 1 - - - - - - - - - Aortic aneurysm, familial thoracic 2 - - - - - - - - - Moyamoya disease 2 - - - - - - - - - Smith-mccort dysplasia 1 - - - - - - - - - Glucocorticoid deficiency 2 - - - - - - - - - Cardiomyopathy, dilated, 1m - - - - - - - - - Atrial fibrillation, familial, 3 - - - - - - - - - Leprosy, susceptibility to, 2 - - - - - - - - - Pontocerebellar hypoplasia, type 1a - - - - - - - - - Ichthyosis, cyclic, with epidermolytic hyperkeratosis - - - - - - - - - Candidiasis, familial, 3 - - - - - - - - - Hypotrichosis-lymphedema-telangiectasia syndrome - - - - - - - - - Mitral valve prolapse 2 - - - - - - - - - Focal segmental glomerulosclerosis 3, susceptibility to - - - - - - - - - Hypotrichosis 6 - - - - - - - - - Periventricular heterotopia with microcephaly, autosomal recessive - - - - - - - - - Periventricular nodular heterotopia 3 - - - - - - - - - Cone-rod dystrophy 13 - - - - - - - - - Seizures, benign familial neonatal, 3 - - - - - - - - - Weill-marchesani syndrome 2 - - - - - - - - - Myopathy, myosin storage, autosomal dominant - - - - - - - - - Branchiootic syndrome 3 - - - - - - - - - Microcephaly 6, primary, autosomal recessive - - - - - - - - - Hirschsprung disease, susceptibility to, 8 - - - - - - - - - Cardiomyopathy, dilated, 1o - - - - - - - - - Joubert syndrome 3 - - - - - - - - - Ciliary dyskinesia, primary, 3 - - - - - - - - - Ciliary dyskinesia, primary, 4 - - - - - - - - - Ciliary dyskinesia, primary, 5 - - - - - - - - - Prostate cancer, hereditary, 3 - - - - - - - - Congenitally corrected transposition of the great arteries - - - - - - - - - Prostate cancer, hereditary, 4 - - - - - - - - - Microcephaly 5, primary, autosomal recessive - - - - - - - - - Moyamoya disease 3 - - - - - - - - - Myoclonic epilepsy, juvenile, susceptibility to, 3 - - - - - - - - - Waardenburg syndrome, type 2d - - - - - - - - - Myasthenic syndrome, congenital, 1b, fast-channel - - - - - - - - - Atrial fibrillation, familial, 2 - - - - - - - - - Narcolepsy 3 - - - - - - - - - Fanconi anemia, complementation group i - - - - - - - - - Fanconi anemia, complementation group j - - - - - - - - - Glucocorticoid deficiency 3 - - - - - - - - - Senior-loken syndrome 5 - - - - - - - - - Nemaline myopathy 6 - - - - - - - - - - Nemaline myopathy 1 - - - - - - - - - - Nemaline myopathy 4 - - - - - - - - - Prostate cancer, hereditary, 5 - - - - - - - - - - Developmental and epileptic encephalopathy 3 - - - - - - - - - Colorectal cancer, hereditary nonpolyposis, type 2 - - - - - - - - - Cerebrorenodigital syndrome with limb malformations and triradiate acetabula - - - - - - - - - Fibrosis of extraocular muscles, congenital, 3c - - - - - - - - - Left ventricular noncompaction 2 - - - - - - - - - Stickler syndrome, type i, nonsyndromic ocular - - - - - - - - - Prostate cancer, hereditary, 6 - - - - - - - - - Photoparoxysmal response 2 - - - - - - - - - Photoparoxysmal response 3 - - - - - - - - - Joubert syndrome 4 - - - - - - - - - Fibrosis of extraocular muscles, congenital, with synergistic divergence - - - - - - - - - Leukemia, chronic lymphocytic, susceptibility to, 1 - - - - - - - - - Cardiomyopathy, dilated, 1p - - - - - - - - - Cardiomyopathy, dilated, 1q - - - - - - - - - Microphthalmia, isolated, with coloboma 3 - - - - - - - - - Aicardi-goutieres syndrome 2 - - - - - - - - - Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 - - - - - - - - - Diaphragmatic hernia 3 - - - - - - - - - Joubert syndrome 5 - - - - - - - - - Senior-loken syndrome 6 - - - - - - - - - Cone-rod dystrophy 10 - - - - - - - - - Prostate cancer, hereditary, 7 - - - - - - - - - Aicardi-goutieres syndrome 3 - - - - - - - - Cortical blindness-intellectual disability-polydactyly syndrome - - - - - - - - - Aicardi-goutieres syndrome 4 - - - - - - - - - Epilepsy, nocturnal frontal lobe, 4 - - - - - - - - - Diabetes mellitus, transient neonatal, 2 - - - - - - - - - West nile virus, susceptibility to - - - - - - - - - Cone-rod dystrophy 11 - - - - - - - - - Cone-rod synaptic disorder, congenital nonprogressive - - - - - - - - - Macroglobulinemia, waldenstrom, susceptibility to, 2 - - - - - - - - - Night blindness, congenital stationary, autosomal dominant 3 - - - - - - - - - Night blindness, congenital stationary, autosomal dominant 1 - - - - - - - - - Pigmented nodular adrenocortical disease, primary, 2 - - - - - - - - - Diabetes mellitus, transient neonatal, 3 - - - - - - - - - Split-hand/foot malformation with long bone deficiency 2 - - - - - - - - - Nemaline myopathy 7 - - - - - - - - - Joubert syndrome 6 - - - - - - - - - Nephrotic syndrome, type 3 - - - - - - - - - - Alopecia areata 2 - - - - - - - - - Cerebrooculofacioskeletal syndrome 2 - - - - - - - - - Cerebrooculofacioskeletal syndrome 4 - - - - - - - - - Cornelia de lange syndrome 3 with or without midline brain defects - - - - - - - - Laurin-Sandrow syndrome - - - - - - - - Costello syndrome - - - - - - - - - Fanconi anemia, complementation group n - - - - - - - - - Mitral valve prolapse 3 - - - - - - - - - Ciliary dyskinesia, primary, 6 - - - - - - - - - Branchiootorenal syndrome 2 - - - - - - - - - Leprosy, susceptibility to, 4 - - - - - - - - - Prostate cancer, hereditary, 9 - - - - - - - - - Episodic kinesigenic dyskinesia 2 - - - - - - - - - Prostate cancer, hereditary, 10 - - - - - - - - - Retinitis pigmentosa 37 - - - - - - - - - Meckel syndrome, type 4 - - - - - - - - Congenitally short costocoracoid ligament - - - - - - - - - Paroxysmal nonkinesigenic dyskinesia 2 - - - - - - - - - Short-rib thoracic dysplasia 2 with or without polydactyly - - - - - - - - - Atrial septal defect 4 - - - - - - - - - Myoclonic epilepsy, juvenile, susceptibility to, 4 - - - - - - - - - Usher syndrome, type iid - - - - - - - - - Cardiomyopathy, dilated, 1w - - - - - - - - - Atrial fibrillation, familial, 4 - - - - - - - - - Atrial fibrillation, familial, 5 - - - - - - - - - Leopard syndrome 2 - - - - - - - - - Joubert syndrome 7 - - - - - - - - - Meckel syndrome, type 5 - - - - - - - - - Waardenburg syndrome, type 2e - - - - - - - - - Cardiomyopathy, dilated, 1x - - - - - - - - - Epilepsy, familial temporal lobe, 4 - - - - - - - - - Microphthalmia, isolated, with coloboma 5 - - - - - - - - - Hirschsprung disease, susceptibility to, 9 - - - - - - - - - Brugada syndrome 2 - - - - - - - - - Aortic aneurysm, familial thoracic 6 - - - - - - - - - Elliptocytosis 1 - - - - - - - - - Prostate cancer, hereditary, 12 - - - - - - - - - Cardiomyopathy, dilated, 1y - - - - - - - - - Cardiomyopathy, dilated, 1z - - - - - - - - - Cardiomyopathy, dilated, 2a - - - - - - - - - Ciliary dyskinesia, primary, 7 - - - - - - - - - Prostate cancer, hereditary, 13 - - - - - - - - - Ventricular tachycardia, catecholaminergic polymorphic, 2 - - - - - - - - - Prostate cancer, hereditary, 11 - - - - - - - - - Prostate cancer, hereditary, 14 - - - - - - - - - Prostate cancer, hereditary, 15 - - - - - - - - - Coenzyme q10 deficiency, primary, 4 - - - - - - - - - - Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia - - - - - - - - - Hypouricemia, renal, 2 - - - - - - - - - Ectodermal dysplasia and immunodeficiency 2 - - - - - - - - - Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction - - - - - - - - - Atrial fibrillation, familial, 6 - - - - - - - - - Atrial fibrillation, familial, 7 - - - - - - - - - Ciliary dyskinesia, primary, 8 - - - - - - - - - - Ichthyosis, congenital, autosomal recessive 6 - - - - - - - - - Meckel syndrome, type 6 - - - - - - - - - Joubert syndrome 9 - - - - - - - - Pelviscapular dysplasia - - - - - - - - - Joubert syndrome 8 - - - - - - - - - Porokeratosis 5, disseminated superficial actinic type - - - - - - - - - Porokeratosis 6, multiple types - - - - - - - - - Pontocerebellar hypoplasia, type 2b - - - - - - - - - Pontocerebellar hypoplasia, type 2c - - - - - - - - - Narcolepsy 4, susceptibility to - - - - - - - - - Epilepsy, progressive myoclonic, 1b - - - - - - - - - Leukodystrophy, hypomyelinating, 6 - - - - - - - - - Ciliary dyskinesia, primary, 9 - - - - - - - - - Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome - - - - - - - - - Ciliary dyskinesia, primary, 10 - - - - - - - - - Diamond-blackfan anemia 4 - - - - - - - - - Diamond-blackfan anemia 5 - - - - - - - - - Amelogenesis imperfecta, hypomaturation type, iia2 - - - - - - - - - Focal segmental glomerulosclerosis 4, susceptibility to - - - - - - - - - Leukemia, chronic lymphocytic, susceptibility to, 3 - - - - - - - - - Leukemia, chronic lymphocytic, susceptibility to, 4 - - - - - - - - - Leukemia, chronic lymphocytic, susceptibility to, 5 - - - - - - - - - Diamond-blackfan anemia 6 - - - - - - - - - Diamond-blackfan anemia 7 - - - - - - - - - Diamond-blackfan anemia 8 - - - - - - - - - Retinitis pigmentosa 46 - - - - - - - - - Chromosome 17p13.3, telomeric, duplication syndrome - - - - - - - - - Usher syndrome, type ih - - - - - - - - - Ciliary dyskinesia, primary, 11 - - - - - - - - - Ciliary dyskinesia, primary, 12 - - - - - - - - - Spherocytosis, type 4 - - - - - - - - - Cone-rod dystrophy 12 - - - - - - - - - Spherocytosis, type 5 - - - - - - - - - Agammaglobulinemia 6, autosomal recessive - - - - - - - - Coxoauricular syndrome - - - - - - - - - Microcephaly 7, primary, autosomal recessive - - - - - - - - - Dyschromatosis universalis hereditaria 2 - - - - - - - - - Cone-rod dystrophy 9 - - - - - - - - - Question mark ears, isolated - - - - - - - - - Brugada syndrome 5 - - - - - - - - - Hypotrichosis 5 - - - - - - - - - Keratosis follicularis spinulosa decalvans, autosomal dominant - - - - - - - - - Narcolepsy 5, susceptibility to - - - - - - - - - Cardiomyopathy, dilated, 1bb - - - - - - - - - Chromosome 5q14.3 deletion syndrome, distal - - - - - - - - - Keratosis palmoplantaris striata ii - - - - - - - - - Three m syndrome 2 - - - - - - - - - Spastic paraplegia 50, autosomal recessive - - - - - - - - - Retinitis pigmentosa 42 - - - - - - - - - Long qt syndrome 12 - - - - - - - - - Ventricular fibrillation, paroxysmal familial, 2 - - - - - - - - - Multiple synostoses syndrome 3 - - - - - - - - - - 46,xy sex reversal 3 - - - - - - - - - Cataract 34, multiple types - - - - - - - - Muscle-eye-brain disease - - - - - - - - - Immunodeficiency 83, susceptibility to viral infections - - - - - - - - - Biliary cirrhosis, primary, 2 - - - - - - - - - Biliary cirrhosis, primary, 3 - - - - - - - - - Neuroblastoma, susceptibility to, 2 - - - - - - - - - Neuroblastoma, susceptibility to, 3 - - - - - - - - - Neuroblastoma, susceptibility to, 4 - - - - - - - - - Neuroblastoma, susceptibility to, 5 - - - - - - - - - Neuroblastoma, susceptibility to, 6 - - - - - - - - - Follicular lymphoma, susceptibility to, 1 - - - - - - - - - Atrial fibrillation, familial, 8 - - - - - - - - Crandall syndrome - - - - - - - - - Metaphyseal anadysplasia 2 - - - - - - - - - 46,xy sex reversal 5 - - - - - - - - - Bartter syndrome, type 4b, neonatal, with sensorineural deafness - - - - - - - - - - - Short-rib thoracic dysplasia 3 with or without polydactyly - - - - - - - - - Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease - - - - - - - - - Choroidal dystrophy, central areolar 2 - - - - - - - - - Neutropenia, severe congenital, 2, autosomal dominant - - - - - - - - - Candidiasis, familial, 4 - - - - - - - - - Neuropathy, hereditary sensory and autonomic, type iib - - - - - - - - - Brugada syndrome 6 - - - - - - - - - Brugada syndrome 7 - - - - - - - - - Cardiomyopathy, dilated, 1cc - - - - - - - - - Brugada syndrome 8 - - - - - - - - - Choroidal dystrophy, central areolar, 3 - - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 - - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 - - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 - - - - - - - - - Cardiomyopathy, dilated, 1dd - - - - - - - - - Ciliary dyskinesia, primary, 13 - - - - - - - - - Retinitis pigmentosa 50 - - - - - - - - - Amelogenesis imperfecta, hypomaturation type, iia3 - - - - - - - - - Night blindness, congenital stationary, type 1c - - - - - - - - - Leprosy, susceptibility to, 5 - - - - - - - - - Factor xiii, a subunit, deficiency of - - - - - - - - - Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 - - - - - - - - - Factor xiii, b subunit, deficiency of - - - - - - - - - Focal segmental glomerulosclerosis 5 - - - - - - - - - Thyrotoxic periodic paralysis, susceptibility to, 2 - - - - - - - - - Colorectal cancer, hereditary nonpolyposis, type 8 - - - - - - - - - Cardiomyopathy, dilated, 1ee - - - - - - - - Cranio-osteoarthropathy - - - - - - - - - Tuberous sclerosis 2 - - - - - - - - - Waardenburg syndrome, type 4b - - - - - - - - - Waardenburg syndrome, type 4c - - - - - - - - - Cardiomyopathy, dilated, 1ff - - - - - - - - - Diamond-blackfan anemia 9 - - - - - - - - - Diamond-blackfan anemia 10 - - - - - - - - - Exudative vitreoretinopathy 5 - - - - - - - - - Hemochromatosis, type 2b - - - - - - - - - Miyoshi muscular dystrophy 2 - - - - - - - - - Hypokalemic periodic paralysis, type 2 - - - - - - - - - Pancreatic cancer, susceptibility to, 2 - - - - - - - - - Pancreatic cancer, susceptibility to, 3 - - - - - - - - - Maturity-onset diabetes of the young, type 10 - - - - - - - - - Maturity-onset diabetes of the young, type 11 - - - - - - - - - Brachydactyly, type e2 - - - - - - - - - Fanconi renotubular syndrome 2 - - - - - - - - - Fanconi anemia, complementation group o - - - - - - - - - Breast-ovarian cancer, familial, susceptibility to, 3 - - - - - - - - - Arthrogryposis, renal dysfunction, and cholestasis 2 - - - - - - - - - Leprosy, susceptibility to, 6 - - - - - - - - - Oguchi disease 2 - - - - - - - - - Cardiomyopathy, dilated, 1r - - - - - - - - - Retinitis pigmentosa 54 - - - - - - - - - Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia - - - - - - - - - Rett syndrome, congenital variant - - - - - - - - - Retinitis pigmentosa 51 - - - - - - - - - Long qt syndrome 13 - - - - - - - - - Myxoid liposarcoma - - - - - - - - - Immunodeficiency, common variable, 3 - - - - - - - - - Immunodeficiency, common variable, 4 - - - - - - - - Craniodiaphyseal dysplasia - - - - - - - - - Immunodeficiency, common variable, 5 - - - - - - - - - Immunodeficiency, common variable, 6 - - - - - - - - - Agammaglobulinemia 2, autosomal recessive - - - - - - - - - Agammaglobulinemia 3, autosomal recessive - - - - - - - - - Agammaglobulinemia 4, autosomal recessive - - - - - - - - - Agammaglobulinemia 5, autosomal dominant - - - - - - - - - Myopathy, lactic acidosis, and sideroblastic anemia 2 - - - - - - - - - Retinitis pigmentosa 55 - - - - - - - - - Retinitis pigmentosa 56 - - - - - - - - - Retinitis pigmentosa 57 - - - - - - - - - Cranioectodermal dysplasia 2 - - - - - - - - - Senior-loken syndrome 7 - - - - - - - - - Retinitis pigmentosa 58 - - - - - - - - - Neuropathy, hereditary sensory and autonomic, type ic - - - - - - - - - Cardiomyopathy, dilated, 1gg - - - - - - - - - D-2-hydroxyglutaric aciduria 2 - - - - - - - - - Cone-rod dystrophy 15 - - - - - - - - - Seckel syndrome 4 - - - - - - - - - Chromosome 2q31.1 duplication syndrome - - - - - - - - - Cardiomyopathy, dilated, 1u - - - - - - - - - Cardiomyopathy, dilated, 1v - - - - - - - - - Klippel-feil syndrome 3, autosomal dominant - - - - - - - - - Microphthalmia, isolated, with coloboma 6 - - - - - - - - - Noonan syndrome 7 - - - - - - - - - Leopard syndrome 3 - - - - - - - - - Neuropathy, hereditary sensory, type id - - - - - - - - - Hirschsprung disease, susceptibility to, 3 - - - - - - - - - Hirschsprung disease, susceptibility to, 4 - - - - - - - - - Treacher collins syndrome 2 - - - - - - - - - Developmental and epileptic encephalopathy 11 - - - - - - - - Hirschsprung disease-deafness-polydactyly syndrome - - - - - - - - - Retinitis pigmentosa 27 - - - - - - - - - Retinitis pigmentosa 49 - - - - - - - - - Retinitis pigmentosa 47 - - - - - - - - - - 46,xy sex reversal 6 - - - - - - - - - Retinitis pigmentosa 45 - - - - - - - - - Retinitis pigmentosa 44 - - - - - - - - - Aortic aneurysm, familial thoracic 7 - - - - - - - - - Complement component c1s deficiency - - - - - - - - - Meier-gorlin syndrome 2 - - - - - - - - - Retinitis pigmentosa 40 - - - - - - - - Craniofacial-deafness-hand syndrome - - - - - - - - - Meier-gorlin syndrome 3 - - - - - - - - - Meier-gorlin syndrome 4 - - - - - - - - - Meier-gorlin syndrome 5 - - - - - - - - - Ciliary dyskinesia, primary, 14 - - - - - - - - - Ciliary dyskinesia, primary, 15 - - - - - - - - - Retinitis pigmentosa 39 - - - - - - - - - Retinitis pigmentosa 43 - - - - - - - - - Pontocerebellar hypoplasia, type 2d - - - - - - - - - Short-rib thoracic dysplasia 4 with or without polydactyly - - - - - - - - - Seckel syndrome 5 - - - - - - - - - Retinitis pigmentosa 48 - - - - - - - - - Night blindness, congenital stationary, type 1d - - - - - - - - - Osteogenesis imperfecta, type xii - - - - - - - - - Achromatopsia 4 - - - - - - - - - Retinitis pigmentosa 59 - - - - - - - - - Retinitis pigmentosa 38 - - - - - - - - - Cardiomyopathy, dilated, 1hh - - - - - - - - - Meckel syndrome, type 8 - - - - - - - - - Megalencephalic leukoencephalopathy with subcortical cysts 2a - - - - - - - - - - Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation - - - - - - - - - Alopecia-intellectual disability syndrome 3 - - - - - - - - - Fanconi anemia, complementation group p - - - - - - - - - Immunodeficiency 51 - - - - - - - - - - Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 - - - - - - - - - Spermatogenic failure 8 - - - - - - - - - Spermatogenic failure 9 - - - - - - - - - Granulomatous disease, chronic, autosomal recessive, 3 - - - - - - - - - Atrial fibrillation, familial, 9 - - - - - - - - - Retinitis pigmentosa 60 - - - - - - - - - Dyskeratosis congenita, autosomal recessive 2 - - - - - - - - - Dyskeratosis congenita, autosomal recessive 3 - - - - - - - - - - Dyskeratosis congenita, autosomal dominant 2 - - - - - - - - - - Dyskeratosis congenita, autosomal dominant 3 - - - - - - - - - Ciliary dyskinesia, primary, 16 - - - - - - - - - Ventricular tachycardia, catecholaminergic polymorphic, 3 - - - - - - - - - Atrial fibrillation, familial, 10 - - - - - - - - - Moyamoya disease 5 - - - - - - - - - Atrial fibrillation, familial, 11 - - - - - - - - - Atrial fibrillation, familial, 12 - - - - - - - - - Spastic paraplegia 47, autosomal recessive - - - - - - - - Non-syndromic bilambdoid and sagittal craniosynostosis - - - - - - - - - Spastic paraplegia 52, autosomal recessive - - - - - - - - - Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - - - - - - - - - Aspergillosis, susceptibility to - - - - - - - - - Fanconi anemia, complementation group g - - - - - - - - - Fanconi anemia, complementation group l - - - - - - - - - Atrial septal defect 3 - - - - - - - - - Short-rib thoracic dysplasia 7 with or without polydactyly - - - - - - - - - Cranioectodermal dysplasia 3 - - - - - - - - - Mosaic variegated aneuploidy syndrome 2 - - - - - - - - - Hydrolethalus syndrome 2 - - - - - - - - - Perrault syndrome 3 - - - - - - - - - Focal segmental glomerulosclerosis 6 - - - - - - - - - Nail disorder, nonsyndromic congenital, 9 - - - - - - - - - Paragangliomas 5 - - - - - - - - - Brittle cornea syndrome 2 - - - - - - - - - Joubert syndrome 13 - - - - - - - - - Retinitis pigmentosa 61 - - - - - - - - - Retinitis pigmentosa 62 - - - - - - - - - Geleophysic dysplasia 2 - - - - - - - - - Pigmented nodular adrenocortical disease, primary, 3 - - - - - - - - - Nephrotic syndrome, type 6 - - - - - - - - - Myasthenic syndrome, congenital, 16 - - - - - - - - - Three m syndrome 3 - - - - - - - - - Meckel syndrome, type 9 - - - - - - - - - Neuropathy, hereditary sensory, type iic - - - - - - - - - Adams-oliver syndrome 2 - - - - - - - - - Biliary cirrhosis, primary, 4 - - - - - - - - - Biliary cirrhosis, primary, 5 - - - - - - - - - Warburg micro syndrome 3 - - - - - - - - - Narcolepsy 6, susceptibility to - - - - - - - - Craniofrontonasal dysplasia - - - - - - - - - Warburg micro syndrome 2 - - - - - - - - - Hypotrichosis 9 - - - - - - - - - Hypotrichosis 10 - - - - - - - - - Narcolepsy 7 - - - - - - - - - Epilepsy, juvenile myoclonic, susceptibility to, 9 - - - - - - - - - Breast-ovarian cancer, familial, susceptibility to, 4 - - - - - - - - - Sclerosteosis 2 - - - - - - - - - Alpha-methylacyl-coa racemase deficiency - - - - - - - - - Pancreatic cancer, susceptibility to, 4 - - - - - - - - - Colorectal cancer, hereditary nonpolyposis, type 6 - - - - - - - - - Arthrogryposis, distal, type 1b - - - - - - - - - Colorectal cancer, hereditary nonpolyposis, type 4 - - - - - - - - - Colorectal cancer, hereditary nonpolyposis, type 5 - - - - - - - - - Surfactant metabolism dysfunction, pulmonary, 5 - - - - - - - - - Amyotrophic lateral sclerosis 16, juvenile - - - - - - - - - Short-rib thoracic dysplasia 5 with or without polydactyly - - - - - - - - - Cranioectodermal dysplasia 4 - - - - - - - - - Complement component 4b deficiency - - - - - - - - - Complement component 4a deficiency - - - - - - - - - Colorectal cancer, hereditary nonpolyposis, type 7 - - - - - - - - Sarcosinemia - - - - - - - - - Cataract 37 - - - - - - - - - - - - Joubert syndrome 14 - - - - - - - - - Cutis laxa, autosomal dominant 2 - - - - - - - - - Hypoplastic left heart syndrome 2 - - - - - - - - - Cutis laxa, autosomal recessive, type ib - - - - - - - - - Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 - - - - - - - - - - Joubert syndrome 15 - - - - - - - - - Joubert syndrome 16 - - - - - - - - - Brain small vessel disease 2 - - - - - - - - - Wiskott-aldrich syndrome 2 - - - - - - - - - Craniometaphyseal dysplasia, autosomal dominant - - - - - - - - - Retinitis pigmentosa 63 - - - - - - - - - Microphthalmia, isolated, with coloboma 7 - - - - - - - - - Cone-rod dystrophy 16 - - - - - - - - - Usher syndrome, type iiib - - - - - - - - - Mirror movements 2 - - - - - - - - - Fibrochondrogenesis 2 - - - - - - - - - Night blindness, congenital stationary, type 1e - - - - - - - - - Baraitser-winter syndrome 2 - - - - - - - - - Olmsted syndrome 1 - - - - - - - - - Trichohepatoenteric syndrome 2 - - - - - - - - - Craniometaphyseal dysplasia, autosomal recessive - - - - - - - - - Coffin-siris syndrome 2 - - - - - - - - - Coffin-siris syndrome 3 - - - - - - - - - Coffin-siris syndrome 4 - - - - - - - - - - Acrodysostosis 2 with or without hormone resistance - - - - - - - - - Joubert syndrome 17 - - - - - - - - - Hyperekplexia 3 - - - - - - - - - Hyperekplexia 2 - - - - - - - - - Uv-sensitive syndrome 2 - - - - - - - - - Uv-sensitive syndrome 3 - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 - - - - - - - - Craniomicromelic syndrome - - - - - - - - - Cortisone reductase deficiency 2 - - - - - - - - - Auriculocondylar syndrome 2 - - - - - - - - - Cardiomyopathy, dilated, 2b - - - - - - - - - Microcephaly 8, primary, autosomal recessive - - - - - - - - - Pontocerebellar hypoplasia, type 1b - - - - - - - - - Ciliary dyskinesia, primary, 17 - - - - - - - - - Immunodeficiency, common variable, 7 - - - - - - - - - Cornelia de lange syndrome 4 with or without midline brain defects - - - - - - - - - Porokeratosis 7, multiple types - - - - - - - - - Prostate cancer, hereditary, 2 - - - - - - - - - Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency - - - - - - - - - Amyotrophic lateral sclerosis 18 - - - - - - - - - Adams-oliver syndrome 3 - - - - - - - - - Joubert syndrome 18 - - - - - - - - - Weill-marchesani syndrome 3 - - - - - - - - - Alternating hemiplegia of childhood 2 - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 - - - - - - - - - Amelogenesis imperfecta, hypomaturation type, iia4 - - - - - - - - - Thyrotoxic periodic paralysis, susceptibility to, 3 - - - - - - - - - - Hypogonadotropic hypogonadism 8 with or without anosmia - - - - - - - - - - Hypogonadotropic hypogonadism 9 with or without anosmia - - - - - - - - - - Hypogonadotropic hypogonadism 11 with or without anosmia - - - - - - - - - Nephronophthisis 15 - - - - - - - - - Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 - - - - - - - - - Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 - - - - - - - - - Microcephaly 9, primary, autosomal recessive - - - - - - - - - Osteogenesis imperfecta, type xiii - - - - - - - - - - Hypogonadotropic hypogonadism 14 with or without anosmia - - - - - - - - - Peroxisome biogenesis disorder 3a (zellweger) - - - - - - - - - Peroxisome biogenesis disorder 4a (zellweger) - - - - - - - - - - Peroxisome biogenesis disorder 4b - - - - - - - - - Peroxisome biogenesis disorder 5a (zellweger) - - - - - - - - - - Peroxisome biogenesis disorder 5b - - - - - - - - - Usher syndrome, type ij - - - - - - - - - Peroxisome biogenesis disorder 6a (zellweger) - - - - - - - - - - Peroxisome biogenesis disorder 6b - - - - - - - - - Peroxisome biogenesis disorder 7a (zellweger) - - - - - - - - - - Peroxisome biogenesis disorder 7b - - - - - - - - - Ciliary dyskinesia, primary, 18 - - - - - - - - - Peroxisome biogenesis disorder 8a (zellweger) - - - - - - - - - - Peroxisome biogenesis disorder 8b - - - - - - - - - Peroxisome biogenesis disorder 9b - - - - - - - - - - Hypogonadotropic hypogonadism 15 with or without anosmia - - - - - - - - - Peroxisome biogenesis disorder 10a (zellweger) - - - - - - - - - Peroxisome biogenesis disorder 11a (zellweger) - - - - - - - - - - Peroxisome biogenesis disorder 11b - - - - - - - - - Peroxisome biogenesis disorder 12a (zellweger) - - - - - - - - - Peroxisome biogenesis disorder 13a (zellweger) - - - - - - - - - Hypogonadotropic hypogonadism 16 with or without anosmia - - - - - - - - - Diamond-blackfan anemia 11 - - - - - - - - - Ventricular tachycardia, catecholaminergic polymorphic, 4 - - - - - - - - - - Peroxisome biogenesis disorder 14b - - - - - - - - - Perrault syndrome 2 - - - - - - - - - Ciliary dyskinesia, primary, 19 - - - - - - - - - Palmoplantar keratoderma, punctate type ib - - - - - - - - - Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive - - - - - - - - - Developmental and epileptic encephalopathy 14 - - - - - - - - - - Joubert syndrome 20 - - - - - - - - - Cholestasis, intrahepatic, of pregnancy 3 - - - - - - - - - Carpenter syndrome 2 - - - - - - - - - Usher syndrome, type ik - - - - - - - - - Epilepsy, nocturnal frontal lobe, 5 - - - - - - - - - Developmental and epileptic encephalopathy 15 - - - - - - - - - Basal ganglia calcification, idiopathic, 4 - - - - - - - - - Aicardi-goutieres syndrome 6 - - - - - - - - - Ichthyosis, congenital, autosomal recessive 7 - - - - - - - - - Ichthyosis, congenital, autosomal recessive 9 - - - - - - - - - Ichthyosis, congenital, autosomal recessive 10 - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 - - - - - - - - - Night blindness, congenital stationary, type 1f - - - - - - - - Scalp-ear-nipple syndrome - - - - - - - - - Hypotrichosis 11 - - - - - - - - - Osteogenesis imperfecta, type xiv - - - - - - - - - Ciliary dyskinesia, primary, 20 - - - - - - - - - Brachydactyly, type a1, c - - - - - - - - - Spermatogenic failure 11 - - - - - - - - - Osteopetrosis, autosomal recessive 8 - - - - - - - - - Left ventricular noncompaction 7 - - - - - - - - - Urofacial syndrome 2 - - - - - - - - - - Myasthenic syndrome, congenital, 8 - - - - - - - - - Microphthalmia, isolated, with coloboma 9 - - - - - - - - - Mitochondrial complex iii deficiency, nuclear type 2 - - - - - - - - - Mitochondrial complex iii deficiency, nuclear type 3 - - - - - - - - - Mitochondrial complex iii deficiency, nuclear type 4 - - - - - - - - - Mitochondrial complex iii deficiency, nuclear type 5 - - - - - - - - - Cone-rod dystrophy 17 - - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 - - - - - - - - - Cardiomyopathy, dilated, 1ii - - - - - - - - - - Dyskeratosis congenita, autosomal recessive 5 - - - - - - - - - Agammaglobulinemia 7, autosomal recessive - - - - - - - - - - Osteogenesis imperfecta, type xv - - - - - - - - - Bone mineral density quantitative trait locus 16 - - - - - - - - - Smith-mccort dysplasia 2 - - - - - - - - - Advanced sleep phase syndrome, familial, 2 - - - - - - - - - Retinitis pigmentosa 66 - - - - - - - - - Cardiomyopathy, dilated, 1jj - - - - - - - - - Nephrotic syndrome, type 8 - - - - - - - - - Cardiomyopathy, dilated, 1kk - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 - - - - - - - - - - Hypogonadotropic hypogonadism 17 with or without anosmia - - - - - - - - - Hypogonadotropic hypogonadism 18 with or without anosmia - - - - - - - - - Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 - - - - - - - - - - Hypogonadotropic hypogonadism 19 with or without anosmia - - - - - - - - - - Hypogonadotropic hypogonadism 20 with or without anosmia - - - - - - - - - Hypogonadotropic hypogonadism 21 with or without anosmia - - - - - - - - - Fanconi anemia, complementation group q - - - - - - - - - Cardiofaciocutaneous syndrome 2 - - - - - - - - - Cardiofaciocutaneous syndrome 3 - - - - - - - - - Cardiofaciocutaneous syndrome 4 - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 - - - - - - - - - Myofibromatosis, infantile, 2 - - - - - - - - - Ciliary dyskinesia, primary, 21 - - - - - - - - - Adams-oliver syndrome 4 - - - - - - - - - Symphalangism, proximal, 1b - - - - - - - - - Perrault syndrome 4 - - - - - - - - - Dowling-degos disease 2 - - - - - - - - - Developmental and epileptic encephalopathy 16 - - - - - - - - - Nemaline myopathy 8 - - - - - - - - - Ehlers-danlos syndrome, spondylodysplastic type, 2 - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 - - - - - - - - - Noonan syndrome 8 - - - - - - - - - Leber congenital amaurosis 17 - - - - - - - - - Hypocalcemia, autosomal dominant 2 - - - - - - - - - Left ventricular noncompaction 8 - - - - - - - - - Cone-rod dystrophy 18 - - - - - - - - - Atrial fibrillation, familial, 13 - - - - - - - - - Atrial fibrillation, familial, 14 - - - - - - - - - Left ventricular noncompaction 10 - - - - - - - - - Meckel syndrome, type 11 - - - - - - - - - Paroxysmal nocturnal hemoglobinuria 2 - - - - - - - - - Dyschromatosis universalis hereditaria 3 - - - - - - - - - Spermatogenic failure 12 - - - - - - - - - Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive - - - - - - - - - Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 - - - - - - - - - Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 - - - - - - - - - Amyotrophic lateral sclerosis 20 - - - - - - - - - Retinitis pigmentosa 82 with or without situs inversus - - - - - - - - - Aortic aneurysm, familial thoracic 8 - - - - - - - - - Cardiac arrhythmia syndrome, with or without skeletal muscle weakness - - - - - - - - - Ciliary dyskinesia, primary, 22 - - - - - - - - - Ciliary dyskinesia, primary, 23 - - - - - - - - - Mitochondrial complex iii deficiency, nuclear type 6 - - - - - - - - - Ciliary dyskinesia, primary, 24 - - - - - - - - - Ciliary dyskinesia, primary, 25 - - - - - - - - - Basal ganglia calcification, idiopathic, 5 - - - - - - - - - Ciliary dyskinesia, primary, 26 - - - - - - - - - Short-rib thoracic dysplasia 8 with or without polydactyly - - - - - - - - - Ciliary dyskinesia, primary, 27 - - - - - - - - - Ciliary dyskinesia, primary, 28 - - - - - - - - - Telangiectasia, hereditary hemorrhagic, type 5 - - - - - - - - - Immunodeficiency 14a, autosomal dominant - - - - - - - - - Amyotrophic lateral sclerosis 19 - - - - - - - - - Candidiasis, familial, 8 - - - - - - - - - Ehlers-danlos syndrome, musculocontractural type, 2 - - - - - - - - - Periventricular nodular heterotopia 6 - - - - - - - - - Van maldergem syndrome 2 - - - - - - - - - Diamond-blackfan anemia 12 - - - - - - - - - Melioidosis, susceptibility to - - - - - - - - - Autoimmune lymphoproliferative syndrome, type iii - - - - - - - - - Retinitis pigmentosa 67 - - - - - - - - - Nephrotic syndrome, type 9 - - - - - - - - - Immunodeficiency, common variable, 10 - - - - - - - - - Fanconi renotubular syndrome 3 - - - - - - - - - Cholangiocarcinoma, susceptibility to - - - - - - - - - Short-rib thoracic dysplasia 10 with or without polydactyly - - - - - - - - - Anemia, congenital dyserythropoietic, type ib - - - - - - - - - Neuropathy, hereditary sensory, type if - - - - - - - - - - Short-rib thoracic dysplasia 11 with or without polydactyly - - - - - - - - - - Joubert syndrome 21 - - - - - - - - - Warburg micro syndrome 4 - - - - - - - - - Joubert syndrome 22 - - - - - - - - Ocular motor apraxia, Cogan type - - - - - - - - Satoyoshi syndrome - - - - - - - - - Schwannomatosis 2 - - - - - - - - - Dowling-degos disease 3 - - - - - - - - - Dowling-degos disease 4 - - - - - - - - - Auriculocondylar syndrome 3 - - - - - - - - - Retinitis pigmentosa 68 - - - - - - - - - Pachyonychia congenita 3 - - - - - - - - - Pachyonychia congenita 4 - - - - - - - - - - - - Nemaline myopathy 9 - - - - - - - - - Developmental and epileptic encephalopathy 19 - - - - - - - - - Polymicrogyria, bilateral perisylvian, autosomal recessive - - - - - - - - Craniosynostosis, Philadelphia type - - - - - - - - - Atrial fibrillation, familial, 15 - - - - - - - - - Retinitis pigmentosa 69 - - - - - - - - - White sponge nevus 2 - - - - - - - - - Seckel syndrome 8 - - - - - - - - - Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis - - - - - - - - - Mitochondrial complex iii deficiency, nuclear type 7 - - - - - - - - - Pigmented nodular adrenocortical disease, primary, 4 - - - - - - - - - Developmental and epileptic encephalopathy 21 - - - - - - - - - Mitochondrial complex iii deficiency, nuclear type 8 - - - - - - - - - Spermatogenic failure 13 - - - - - - - - Baller-Gerold syndrome - - - - - - - - - Spermatogenic failure 14 - - - - - - - - - Aicardi-goutieres syndrome 7 - - - - - - - - - Cone-rod dystrophy 19 - - - - - - - - - Coffin-siris syndrome 9 - - - - - - - - - Developmental and epileptic encephalopathy 24 - - - - - - - - - Ciliary dyskinesia, primary, 29 - - - - - - - - - Myopathy, tubular aggregate, 2 - - - - - - - - - Hypotrichosis 12 - - - - - - - - - Amelogenesis imperfecta, hypomaturation type, iia5 - - - - - - - - - Hypotrichosis 13 - - - - - - - - - Diamond-blackfan anemia 13 - - - - - - - - - Cardiomyopathy, dilated, 1nn - - - - - - - - - Retinitis pigmentosa 70 - - - - - - - - - Pancreatic agenesis 2 - - - - - - - - - Acth-independent macronodular adrenal hyperplasia 2 - - - - - - - - - Myopathy, centronuclear, 5 - - - - - - - - - Cone-rod dystrophy 20 - - - - - - - - - Bardet-biedl syndrome 13 - - - - - - - - - Bardet-biedl syndrome 14 - - - - - - - - - Bardet-biedl syndrome 15 - - - - - - - - - Bardet-biedl syndrome 16 - - - - - - - - - Bardet-biedl syndrome 17 - - - - - - - - - Bardet-biedl syndrome 18 - - - - - - - - - Bardet-biedl syndrome 19 - - - - - - - - - Breasts and/or nipples, aplasia or hypoplasia of, 2 - - - - - - - - - Focal segmental glomerulosclerosis 7 - - - - - - - - - Immunodeficiency 36 - - - - - - - - - Hennekam lymphangiectasia-lymphedema syndrome 2 - - - - - - - - - Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young - - - - - - - - - Adams-oliver syndrome 5 - - - - - - - - Craniotelencephalic dysplasia - - - - - - - - - Hypogonadotropic hypogonadism 22 with or without anosmia - - - - - - - - - Focal segmental glomerulosclerosis 8 - - - - - - - - - Ciliary dyskinesia, primary, 30 - - - - - - - - - Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant - - - - - - - - - Microcephaly 13, primary, autosomal recessive - - - - - - - - - Mirror movements 3 - - - - - - - - - Porokeratosis 8, disseminated superficial actinic type - - - - - - - - - Microcephaly 12, primary, autosomal recessive - - - - - - - - - Pontocerebellar hypoplasia, type 1c - - - - - - - - - Psoriasis 15, pustular, susceptibility to - - - - - - - - - Mitochondrial complex iii deficiency, nuclear type 9 - - - - - - - - - Familial cold autoinflammatory syndrome 4 - - - - - - - - - Perrault syndrome 5 - - - - - - - - - Developmental and epileptic encephalopathy 27 - - - - - - - - - Macular dystrophy, vitelliform, 4 - - - - - - - - - Macular dystrophy, vitelliform, 5 - - - - - - - - - - Nemaline myopathy 10 - - - - - - - - - Aortic aneurysm, familial thoracic 9 - - - - - - - - - Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia - - - - - - - - - Developmental and epileptic encephalopathy 28 - - - - - - - - - Focal segmental glomerulosclerosis 9 - - - - - - - - - - Amelogenesis imperfecta, type ih - - - - - - - - - Osteogenesis imperfecta, type xvi - - - - - - - - - Long qt syndrome 14 - - - - - - - - - Long qt syndrome 15 - - - - - - - - Congenital limbs-face contractures-hypotonia-developmental delay syndrome - - - - - - - - - Amelogenesis imperfecta, type if - - - - - - - - - Cole-carpenter syndrome 2 - - - - - - - - - Singleton-merten syndrome 2 - - - - - - - - - Short-rib thoracic dysplasia 13 with or without polydactyly - - - - - - - - X-linked creatine transporter deficiency - - - - - - - - - Myasthenic syndrome, congenital, 17 - - - - - - - - - Senior-loken syndrome 8 - - - - - - - - - Intellectual developmental disorder, autosomal dominant 33 - - - - - - - - - Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency - - - - - - - - - Myasthenic syndrome, congenital, 3a, slow-channel - - - - - - - - - Myasthenic syndrome, congenital, 3b, fast-channel - - - - - - - - - Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency - - - - - - - - - Myasthenic syndrome, congenital, 4b, fast-channel - - - - - - - - - Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - - - - - - - - - Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - - - - - - - - Creeping myiasis - - - - - - - - - Maturity-onset diabetes of the young, type 13 - - - - - - - - - Myasthenic syndrome, congenital, 18 - - - - - - - - - Developmental and epileptic encephalopathy 29 - - - - - - - - - - - Developmental and epileptic encephalopathy 30 - - - - - - - - - - Developmental and epileptic encephalopathy 31 - - - - - - - - - - Dyskeratosis congenita, autosomal recessive 6 - - - - - - - - - Developmental and epileptic encephalopathy 32 - - - - - - - - - Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 - - - - - - - - - Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 - - - - - - - - - Night blindness, congenital stationary, type 1g - - - - - - - - - Trichothiodystrophy 2, photosensitive - - - - - - - - - Retinitis pigmentosa 71 - - - - - - - - - Trichothiodystrophy 3, photosensitive - - - - - - - - - Dystonia 26, myoclonic - - - - - - - - - Brugada syndrome 9 - - - - - - - - - Microcephaly 14, primary, autosomal recessive - - - - - - - - - Developmental and epileptic encephalopathy 33 - - - - - - - - - Basal ganglia calcification, idiopathic, 6 - - - - - - - - - Myoclonic-atonic epilepsy - - - - - - - - - - 46,xy sex reversal 10 - - - - - - - - Crisponi syndrome - - - - - - - - - Microphthalmia, isolated, with coloboma 10 - - - - - - - - - Fanconi anemia, complementation group t - - - - - - - - - Epilepsy, familial temporal lobe, 7 - - - - - - - - - - - Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 - - - - - - - - - Candidiasis, familial, 9 - - - - - - - - - Zimmermann-laband syndrome 2 - - - - - - - - - Epilepsy, familial temporal lobe, 8 - - - - - - - - - Acrofacial dysostosis, cincinnati type - - - - - - - - - Exudative vitreoretinopathy 6 - - - - - - - - - Retinitis pigmentosa 72 - - - - - - - - - Ullrich congenital muscular dystrophy 2 - - - - - - - - - Bethlem myopathy 2 - - - - - - - - - Ciliary dyskinesia, primary, 32 - - - - - - - - - Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities - - - - - - - - - Joubert syndrome 23 - - - - - - - - - Cone-rod dystrophy 21 - - - - - - - - - Osteogenesis imperfecta, type xvii - - - - - - - - - Cataract 44 - - - - - - - - - Maturity-onset diabetes of the young, type 14 - - - - - - - - - Achromatopsia 7 - - - - - - - - Familial exudative vitreoretinopathy - - - - - - - - - Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities - - - - - - - - - Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 - - - - - - - - - Thyroid cancer, nonmedullary, 4 - - - - - - - - - Thyroid cancer, nonmedullary, 5 - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 - - - - - - - - - Retinitis pigmentosa 73 - - - - - - - - - - Dyskeratosis congenita, autosomal dominant 6 - - - - - - - - - Noonan syndrome 9 - - - - - - - - - Retinitis pigmentosa 74 - - - - - - - - - Noonan syndrome 10 - - - - - - - - Cataract-nephropathy-encephalopathy syndrome - - - - - - - - - Cerebrooculofacioskeletal syndrome 3 - - - - - - - - - Immunodeficiency, common variable, 12, with autoimmunity - - - - - - - - - Adams-oliver syndrome 6 - - - - - - - - - Cutis laxa, autosomal dominant 3 - - - - - - - - - Heimler syndrome 2 - - - - - - - - - Senior-loken syndrome 9 - - - - - - - - - Porokeratosis 9, multiple types - - - - - - - - - Developmental and epileptic encephalopathy 34 - - - - - - - - - Optic atrophy 8 - - - - - - - - - Spherocytosis, type 2 - - - - - - - - - Joubert syndrome 24 - - - - - - - - - Microcephaly 16, primary, autosomal recessive - - - - - - - - - Dehydrated hereditary stomatocytosis 2 - - - - - - - - - - Myasthenic syndrome, congenital, 19 - - - - - - - - - Ciliary dyskinesia, primary, 33 - - - - - - - - - Nephrotic syndrome, type 11 - - - - - - - - - Skin creases, congenital symmetric circumferential, 2 - - - - - - - - - Woolly hair, autosomal recessive 3 - - - - - - - - - Seckel syndrome 9 - - - - - - - - - Joubert syndrome 25 - - - - - - - - - Joubert syndrome 26 - - - - - - - - - Neuroblastoma, susceptibility to, 7 - - - - - - - - - Wilms tumor 6 - - - - - - - - - Meier-gorlin syndrome 6 - - - - - - - - - Brachydactyly, type a1, d - - - - - - - - - Advanced sleep phase syndrome, familial, 3 - - - - - - - - - Nephrotic syndrome, type 12 - - - - - - - - - Nephrotic syndrome, type 13 - - - - - - - - - Immunodeficiency-centromeric instability-facial anomalies syndrome 3 - - - - - - - - - Immunodeficiency-centromeric instability-facial anomalies syndrome 4 - - - - - - - - Crossed polysyndactyly - - - - - - - - - Coffin-siris syndrome 5 - - - - - - - - - Agammaglobulinemia 8a, autosomal dominant - - - - - - - - - Trichothiodystrophy 6, nonphotosensitive - - - - - - - - - Spermatogenic failure 15 - - - - - - - - - Polycystic liver disease 2 with or without kidney cysts - - - - - - - - - Developmental and epileptic encephalopathy 38 - - - - - - - - - Retinitis pigmentosa 75 - - - - - - - - - Night blindness, congenital stationary, type 1h - - - - - - - - - Pontocerebellar hypoplasia, type 2f - - - - - - - - - Hermansky-pudlak syndrome 10 - - - - - - - - - Meier-gorlin syndrome 7 - - - - - - - - - Developmental and epileptic encephalopathy 40 - - - - - - - - - Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 - - - - - - - - - Nasopharyngeal carcinoma, susceptibility to, 3 - - - - - - - - - - Short-rib thoracic dysplasia 15 with polydactyly - - - - - - - - - Microcephaly 17, primary, autosomal recessive - - - - - - - - - Ciliary dyskinesia, primary, 34 - - - - - - - - - Ciliary dyskinesia, primary, 35 - - - - - - - - - Short-rib thoracic dysplasia 16 with or without polydactyly - - - - - - - - - - Developmental and epileptic encephalopathy 41 - - - - - - - - - Developmental and epileptic encephalopathy 42 - - - - - - - - - Developmental and epileptic encephalopathy 43 - - - - - - - - - Bardet-biedl syndrome 22 - - - - - - - - - Joubert syndrome 27 - - - - - - - - - - Joubert syndrome 28 - - - - - - - - - Retinitis pigmentosa 76 - - - - - - - - - Orofaciodigital syndrome xv - - - - - - - - - Developmental and epileptic encephalopathy 44 - - - - - - - - - Frontometaphyseal dysplasia 2 - - - - - - - - Cleft palate-large ears-small head syndrome - - - - - - - - Cryptogenic organizing pneumonia - - - - - - - - - Aniridia 2 - - - - - - - - - Aniridia 3 - - - - - - - - - Myasthenic syndrome, congenital, 20, presynaptic - - - - - - - - - Developmental and epileptic encephalopathy 45 - - - - - - - - - Myopathy, distal, with rimmed vacuoles - - - - - - - - - Developmental and epileptic encephalopathy 46 - - - - - - - - - Developmental and epileptic encephalopathy 47 - - - - - - - - - Aortic aneurysm, familial thoracic 10 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 74 - - - - - - - - - Ehlers-danlos syndrome, periodontal type, 2 - - - - - - - - - Periventricular nodular heterotopia 7 - - - - - - - - - Amelogenesis imperfecta, hypomaturation type, iia6 - - - - - - - - - Myasthenic syndrome, congenital, 21, presynaptic - - - - - - - - - Fanconi anemia, complementation group v - - - - - - - - - Fanconi anemia, complementation group r - - - - - - - - - Fanconi anemia, complementation group u - - - - - - - - - Uncombable hair syndrome 2 - - - - - - - - - Uncombable hair syndrome 3 - - - - - - - - - Developmental and epileptic encephalopathy 48 - - - - - - - - - Atrial fibrillation, familial, 18 - - - - - - - - - Amelogenesis imperfecta, type ij - - - - - - - - - Retinitis pigmentosa 77 - - - - - - - - - Nemaline myopathy 11, autosomal recessive - - - - - - - - - Developmental and epileptic encephalopathy 52 - - - - - - - - - Developmental and epileptic encephalopathy 53 - - - - - - - - - Developmental and epileptic encephalopathy 54 - - - - - - - - - Bardet-biedl syndrome 21 - - - - - - - - - Diamond-blackfan anemia 16 - - - - - - - - - Diamond-blackfan anemia 17 - - - - - - - - - Retinitis pigmentosa 78 - - - - - - - - - Bleeding disorder, platelet-type, 21 - - - - - - - - - Retinitis pigmentosa 79 - - - - - - - - - Neurodevelopmental disorder with involuntary movements - - - - - - - - - Microcephaly 18, primary, autosomal dominant - - - - - - - - - Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development - - - - - - - - - Cohen-gibson syndrome - - - - - - - - - Meckel syndrome 13 - - - - - - - - - Perrault syndrome 6 - - - - - - - - - Exudative vitreoretinopathy 7 - - - - - - - - - Ciliary dyskinesia, primary, 37 - - - - - - - - - Mosaic variegated aneuploidy syndrome 3 - - - - - - - - - Developmental and epileptic encephalopathy 55 - - - - - - - - - Polycystic kidney disease 5 - - - - - - - - - Joubert syndrome 30 - - - - - - - - - Blepharocheilodontic syndrome 2 - - - - - - - - - Spermatogenic failure 22 - - - - - - - - - Spermatogenic failure 23 - - - - - - - - - Galloway-mowat syndrome 3 - - - - - - - - - Galloway-mowat syndrome 4 - - - - - - - - - Galloway-mowat syndrome 5 - - - - - - - - - Myopathy, centronuclear, 6, with fiber-type disproportion - - - - - - - - - Joubert syndrome 31 - - - - - - - - - Retinitis pigmentosa 80 - - - - - - - - - Microcephaly 19, primary, autosomal recessive - - - - - - - - - Coffin-siris syndrome 6 - - - - - - - - - Geleophysic dysplasia 3 - - - - - - - - - Ehlers-danlos syndrome, arthrochalasia type, 2 - - - - - - - - - Glucocorticoid deficiency 5 - - - - - - - - - Developmental and epileptic encephalopathy 92 - - - - - - - - - Developmental and epileptic encephalopathy 58 - - - - - - - - Currarino syndrome - - - - - - - - - Intellectual developmental disorder, autosomal dominant 55, with seizures - - - - - - - - - Developmental delay and seizures with or without movement abnormalities - - - - - - - - - Amyotrophic lateral sclerosis 23 - - - - - - - - - Li-fraumeni syndrome 2 - - - - - - - - - Fanconi anemia, complementation group s - - - - - - - - - Amyotrophic lateral sclerosis, susceptibility to, 24 - - - - - - - - - Leukodystrophy, hypomyelinating, 14 - - - - - - - - - Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 - - - - - - - - - Microcephaly 20, primary, autosomal recessive - - - - - - - - - Epilepsy, juvenile myoclonic, susceptibility to, 10 - - - - - - - - - Developmental and epileptic encephalopathy 60 - - - - - - - - - Developmental and epileptic encephalopathy 62 - - - - - - - - - Shwachman-diamond syndrome 2 - - - - - - - - - Elliptocytosis 3 - - - - - - - - - Spermatogenic failure 25 - - - - - - - - - Rh-null, amorph type - - - - - - - - - Methemoglobinemia, beta type - - - - - - - - - Methemoglobinemia, alpha type - - - - - - - - - Microcephaly 21, primary, autosomal recessive - - - - - - - - - Microcephaly 22, primary, autosomal recessive - - - - - - - - - Microcephaly 23, primary, autosomal recessive - - - - - - - - - Tumoral calcinosis, hyperphosphatemic, familial, 2 - - - - - - - - - Tumoral calcinosis, hyperphosphatemic, familial, 3 - - - - - - - - - Developmental and epileptic encephalopathy 65 - - - - - - - - - Hyperekplexia 4 - - - - - - - - - Developmental and epileptic encephalopathy 93 - - - - - - - - - Tetraamelia syndrome 2 - - - - - - - - - Coffin-siris syndrome 7 - - - - - - - - - Ciliary dyskinesia, primary, 38 - - - - - - - - - Pontocerebellar hypoplasia, type 1d - - - - - - - - Cutaneous larva migrans - - - - - - - - - Spermatogenic failure 28 - - - - - - - - - Spermatogenic failure 30 - - - - - - - - - Spermatogenic failure 32 - - - - - - - - - Polydactyly, postaxial, type a8 - - - - - - - - - Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8 - - - - - - - - - Developmental and epileptic encephalopathy 67 - - - - - - - - - Hennekam lymphangiectasia-lymphedema syndrome 3 - - - - - - - - - Joubert syndrome 35 - - - - - - - - - Retinitis pigmentosa 83 - - - - - - - - - Nephrotic syndrome, type 17 - - - - - - - - - Nephrotic syndrome, type 18 - - - - - - - - - Nephrotic syndrome, type 19 - - - - - - - - - - Microcephaly 24, primary, autosomal recessive - - - - - - - - - Periventricular nodular heterotopia 8 - - - - - - - - - Hyperparathyroidism, transient neonatal - - - - - - - - - Cardiomyopathy, dilated, 2c - - - - - - - - - Intellectual developmental disorder and retinitis pigmentosa - - - - - - - - - Capillary malformation-arteriovenous malformation 2 - - - - - - - - - Myasthenic syndrome, congenital, 23, presynaptic - - - - - - - - - Myasthenic syndrome, congenital, 24, presynaptic - - - - - - - - - Developmental and epileptic encephalopathy 68 - - - - - - - - - Retinitis pigmentosa 84 - - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 2 - - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 3 - - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 4 - - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 5 - - - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 6 - - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 7 - - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 8 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 9 - - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 10 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 11 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 14 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 15 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 16 - - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 18 - - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 19 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 21 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 24 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 25 - - - - - - - - Cutaneous photosensitivity-lethal colitis syndrome - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 29 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 31 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 33 - - - - - - - - - Mirror movements 4 - - - - - - - - - Epidermodysplasia verruciformis, susceptibility to, 3 - - - - - - - - - Hypotrichosis 14 - - - - - - - - - Developmental and epileptic encephalopathy 70 - - - - - - - - - Epidermodysplasia verruciformis, susceptibility to, 5 - - - - - - - - - Diamond-blackfan anemia 18 - - - - - - - - - Diamond-blackfan anemia 19 - - - - - - - - - Diamond-blackfan anemia 20 - - - - - - - - - Myasthenic syndrome, congenital, 25, presynaptic - - - - - - - - - Retinitis pigmentosa 85 - - - - - - - - - Galloway-mowat syndrome 6 - - - - - - - - - Galloway-mowat syndrome 7 - - - - - - - - - Galloway-mowat syndrome 8 - - - - - - - - - Microcephaly 25, primary, autosomal recessive - - - - - - - - - Coffin-siris syndrome 8 - - - - - - - - - Spondyloepimetaphyseal dysplasia with joint laxity, type 3 - - - - - - - - - Developmental and epileptic encephalopathy 74 - - - - - - - - - Cataract 48 - - - - - - - - - - Arthrogryposis, distal, type 2b2 - - - - - - - - - Developmental and epileptic encephalopathy 75 - - - - - - - - - Ciliary dyskinesia, primary, 41 - - - - - - - - - Paragangliomas 6 - - - - - - - - - Developmental and epileptic encephalopathy 76 - - - - - - - - - Paragangliomas 7 - - - - - - - - - Noonan syndrome 11 - - - - - - - - - Coffin-siris syndrome 10 - - - - - - - - - Leber congenital amaurosis 19 - - - - - - - - - Immunodeficiency 64 - - - - - - - - - Ectodermal dysplasia 15, hypohidrotic/hair type - - - - - - - - - Trichothiodystrophy 7, nonphotosensitive - - - - - - - - - Multiple congenital anomalies-hypotonia-seizures syndrome 4 - - - - - - - - - Night blindness, congenital stationary, type1i - - - - - - - - - Developmental and epileptic encephalopathy 78 - - - - - - - - - Developmental and epileptic encephalopathy 79 - - - - - - - - - Intellectual developmental disorder, autosomal dominant 60, with seizures - - - - - - - - - Retinitis pigmentosa 86 - - - - - - - - - Noonan syndrome 12 - - - - - - - - - Usher syndrome, type 1m - - - - - - - - - Zimmermann-laband syndrome 3 - - - - - - - - - Sitosterolemia 2 - - - - - - - - - Ciliary dyskinesia, primary, 42 - - - - - - - - - Retinitis pigmentosa 87 with choroidal involvement - - - - - - - - - Neutropenia, severe congenital, 8, autosomal dominant - - - - - - - - - Joubert syndrome 36 - - - - - - - - - Mitochondrial complex iii deficiency, nuclear type 10 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 34 - - - - - - - - - Coffin-siris syndrome 11 - - - - - - - - Autosomal recessive cutis laxa type 2A - - - - - - - - - Ciliary dyskinesia, primary, 44 - - - - - - - - - Imagawa-matsumoto syndrome - - - - - - - - - Juvenile arthritis - - - - - - - - - Ciliary dyskinesia, primary, 45 - - - - - - - - - Basal ganglia calcification, idiopathic, 8, autosomal recessive - - - - - - - - - Retinitis pigmentosa 88 - - - - - - - - - Alopecia-intellectual disability syndrome 4 - - - - - - - - - Hypogonadotropic hypogonadism 25 with anosmia - - - - - - - - - Diabetes mellitus, permanent neonatal, 2 - - - - - - - - - Diabetes mellitus, permanent neonatal, 3 - - - - - - - - Autosomal dominant cutis laxa - - - - - - - - - Diabetes mellitus, permanent neonatal, 4 - - - - - - - - - Developmental and epileptic encephalopathy 86 - - - - - - - - - Fanconi renotubular syndrome 5 - - - - - - - - - Developmental and epileptic encephalopathy 87 - - - - - - - - - Periventricular nodular heterotopia 9 - - - - - - - - - Granulomatous disease, chronic, autosomal recessive, 5 - - - - - - - - - Treacher collins syndrome 4 - - - - - - - - - Oculopharyngodistal myopathy 2 - - - - - - - - - Developmental and epileptic encephalopathy 88 - - - - - - - - - Optic atrophy 12 - - - - - - - - - Immune dysregulation and systemic hyperinflammation syndrome - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 35 - - - - - - - - - Ifap syndrome 2 - - - - - - - - - Coenzyme q10 deficiency, primary, 9 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 3 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 4 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 7 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 8 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 10 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 11 - - - - - - - - Autosomal recessive cutis laxa type 2B - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 12 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 14 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 15 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 16 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 17 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 18 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 19 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 20 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 21 - - - - - - - - - Noonan syndrome 13 - - - - - - - - - Spermatogenic failure 48 - - - - - - - - - Arthrogryposis, distal, type 1c - - - - - - - - - Coach syndrome 2 - - - - - - - - - Coach syndrome 3 - - - - - - - - - Developmental and epileptic encephalopathy 89 - - - - - - - - - - Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia - - - - - - - - - Ritscher-schinzel syndrome 3 - - - - - - - - - - Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 - - - - - - - - - Nephrotic syndrome, type 22 - - - - - - - - - Mitochondrial complex ii deficiency, nuclear type 2 - - - - - - - - Primary cutis verticis gyrata - - - - - - - - - Mitochondrial complex ii deficiency, nuclear type 3 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 36 - - - - - - - - - Microcephaly 26, primary, autosomal dominant - - - - - - - - - Microcephaly 27, primary, autosomal dominant - - - - - - - - - Joubert syndrome 37 - - - - - - - - - Nephrotic syndrome, type 23 - - - - - - - - - Spermatogenic failure 52 - - - - - - - - - Olmsted syndrome 2 - - - - - - - - - Mitochondrial complex ii deficiency, nuclear type 4 - - - - - - - - - Glanzmann thrombasthenia 2 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 37 - - - - - - - - - Pontocerebellar hypoplasia, type 1e - - - - - - - - - Pontocerebellar hypoplasia, type 1f - - - - - - - - - Coffin-siris syndrome 12 - - - - - - - - - Bartsocas-papas syndrome 2 - - - - - - - - - Developmental and epileptic encephalopathy 96 - - - - - - - - - Visceral myopathy 2 - - - - - - - - - Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 22 - - - - - - - - - Cone dystrophy 4 - - - - - - - - - Cowden syndrome 1 - - - - - - - - - Desbuquois dysplasia 1 - - - - - - - - - - Xeroderma pigmentosum, complementation group d - - - - - - - - - Lymphatic malformation 2 - - - - - - - - - Intellectual developmental disorder, autosomal dominant 3 - - - - - - - - - Intellectual developmental disorder, autosomal dominant 4 - - - - - - - - - Lymphatic malformation 3 - - - - - - - - - Ichthyosis, congenital, autosomal recessive 8 - - - - - - - - - Intellectual developmental disorder, autosomal dominant 2 - - - - - - - - - Nescav syndrome - - - - - - - - Thyrocerebrorenal syndrome - - - - - - - - - Intellectual developmental disorder, autosomal dominant 10 - - - - - - - - - Chromosome 20q11-q12 deletion syndrome - - - - - - - - - Intellectual developmental disorder, autosomal dominant 13 - - - - - - - - - Cowden syndrome 4 - - - - - - - - - Cowden syndrome 5 - - - - - - - - - Cowden syndrome 6 - - - - - - - - - Desbuquois dysplasia 2 - - - - - - - - - Vulto-van silfhout-de vries syndrome - - - - - - - - - Lymphatic malformation 4 - - - - - - - - - Intellectual developmental disorder, autosomal dominant 38 - - - - - - - - - Cowden syndrome 7 - - - - - - - - - Ichthyosis, congenital, autosomal recessive 14 - - - - - - - - - Intellectual developmental disorder, autosomal dominant 52 - - - - - - - - - Intellectual developmental disorder, autosomal dominant 53 - - - - - - - - - Intellectual developmental disorder, autosomal dominant 54 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 63 - - - - - - - - - Intellectual developmental disorder, autosomal dominant 58 - - - - - - - - - Global developmental delay with or without impaired intellectual development - - - - - - - - - Intellectual developmental disorder, autosomal dominant 64 - - - - - - - - Mitochondrial DNA-related progressive external ophthalmoplegia - - - - - - - - Sorsby pseudoinflammatory fundus dystrophy - - - - - - - - Methylmalonic aciduria due to transcobalamin receptor defect - - - - - - - - Rieger anomaly - - - - - - - - - Infantile liver failure syndrome 3 - - - - - - - - Anterior segment developmental anomaly without extraocular manifestations - - - - - - - - Axenfeld anomaly - - - - - - - - Autosomal dominant progressive external ophthalmoplegia - - - - - - - - C3 glomerulonephritis - - - - - - - - Complement component 3 deficiency - - - - - - - - Primary early-onset glaucoma - - - - - - - - - Aortic aneurysm, familial abdominal, 1 - - - - - - - - - Aortic aneurysm, familial abdominal, 2 - - - - - - - - - Aortic aneurysm, familial abdominal, 3 - - - - - - - - - Aortic aneurysm, familial abdominal, 4 - - - - - - - - - Fetal akinesia deformation sequence 2 - - - - - - - - - Fetal akinesia deformation sequence 3 - - - - - - - - - Fetal akinesia deformation sequence 4 - - - - - - - - - Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 - - - - - - - - - Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 - - - - - - - - - Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 - - - - - - - - - Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 - - - - - - - - - Otofaciocervical syndrome 1 - - - - - - - - - Otofaciocervical syndrome 2, with t-cell deficiency - - - - - - - - - Seizures, benign familial infantile, 2 - - - - - - - - - Seizures, benign familial infantile, 4 - - - - - - - - - Seizures, benign familial infantile, 5 - - - - - - - - - Alzheimer disease 5 - - - - - - - - - Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology - - - - - - - - - Alzheimer disease 6 - - - - - - - - - Alzheimer disease 7 - - - - - - - - - Alzheimer disease 4 - - - - - - - - - Alzheimer disease 8 - - - - - - - - - Alzheimer disease 3 - - - - - - - - - Alzheimer disease 10 - - - - - - - - - Alzheimer disease 11 - - - - - - - - - Alzheimer disease 12 - - - - - - - - - Alzheimer disease 13 - - - - - - - - - Alzheimer disease 14 - - - - - - - - - Septooptic dysplasia - - - - - - - - - Pituitary hormone deficiency, combined, 6 - - - - - - - - - Seizures, benign familial infantile, 3 - - - - - - - - Citrullinemia - - - - - - - - Glycogen storage disease due to glucose-6-phosphatase deficiency - - - - - - - - Focal facial dermal dysplasia type I - - - - - - - - Crigler-Najjar syndrome - - - - - - - - Ependymal tumor - - - - - - - - Erythrokeratodermia variabilis - - - - - - - - Classic Hodgkin lymphoma - - - - - - - - Primary hyperoxaluria - - - - - - - - Idiopathic/heritable pulmonary arterial hypertension - - - - - - - - Familial hypoaldosteronism - - - - - - - - Normosmic congenital hypogonadotropic hypogonadism - - - - - - - - Non-syndromic anorectal malformation - - - - - - - - Marfan syndrome - - - - - - - - Multiminicore myopathy - - - - - - - - Homocystinuria without methylmalonic aciduria - - - - - - - - Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia - - - - - - - - LCAT deficiency - - - - - - - - Familial aortic dissection - - - - - - - - Omphalocele - - - - - - - - Hemolytic anemia due to glucophosphate isomerase deficiency - - - - - - - - Porokeratosis plantaris palmaris et disseminata - - - - - - - - Severe hereditary thrombophilia due to congenital protein S deficiency - - - - - - - - Severe hereditary thrombophilia due to congenital protein C deficiency - - - - - - - - Pseudohypoaldosteronism type 1 - - - - - - - - Central precocious puberty - - - - - - - - Familial long QT syndrome - - - - - - - - Estrogen resistance syndrome - - - - - - - - Encephalopathy due to sulfite oxidase deficiency - - - - - - - - Lown-Ganong-Levine syndrome - - - - - - - - Acro-renal-ocular syndrome - - - - - - - - Testicular regression syndrome - - - - - - - - Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome - - - - - - - - Autosomal recessive amelia - - - - - - - - Microlissencephaly - - - - - - - - Sheldon-Hall syndrome - - - - - - - - Congenital unilateral hypoplasia of depressor anguli oris - - - - - - - - X-linked progressive cerebellar ataxia - - - - - - - - Ataxia-tapetoretinal degeneration syndrome - - - - - - - - Spastic ataxia with congenital miosis - - - - - - - - TMEM70-related mitochondrial encephalo-cardio-myopathy - - - - - - - - Brachytelephalangy-dysmorphism-Kallmann syndrome - - - - - - - - Hyperkeratosis-hyperpigmentation syndrome - - - - - - - - Atrial standstill - - - - - - - - Chondrodysplasia-disorder of sex development syndrome - - - - - - - - Atrial septal defect-atrioventricular conduction defects syndrome - - - - - - - - Cooper-Jabs syndrome - - - - - - - - Autosomal recessive Robinow syndrome - - - - - - - - Fatal infantile cytochrome C oxidase deficiency - - - - - - - - Monosomy 13q14 - - - - - - - - Distal monosomy 13q - - - - - - - - Distal monosomy 15q - - - - - - - - 3q13 microdeletion syndrome - - - - - - - - Partial chromosome Y deletion - - - - - - - - Dentin dysplasia - - - - - - - - Chronic diarrhea with villous atrophy - - - - - - - - Arterial dissection-lentiginosis syndrome - - - - - - - - Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome - - - - - - - - Renal agenesis, bilateral - - - - - - - - Diabetic embryopathy - - - - - - - - Early myoclonic encephalopathy - - - - - - - - Hereditary gingival fibromatosis - - - - - - - - Juvenile hyaline fibromatosis - - - - - - - - X-linked intellectual disability-epilepsy syndrome - - - - - - - - 46,XX ovotesticular disorder of sex development - - - - - - - - Nodular neuronal heterotopia - - - - - - - - Idiopathic hypercalciuria - - - - - - - - Primary hypergonadotropic hypogonadism-partial alopecia syndrome - - - - - - - - Familial isolated hypoparathyroidism due to agenesis of parathyroid gland - - - - - - - - Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome - - - - - - - - Primary pulmonary hypoplasia - - - - - - - - Congenital short bowel syndrome - - - - - - - - Absence deformity of leg-cataract syndrome - - - - - - - - Kenny-Caffey syndrome - - - - - - - - Larsen-like osseous dysplasia-short stature syndrome - - - - - - - - Congenital laryngeal web - - - - - - - - Laryngeal abductor paralysis-intellectual disability syndrome - - - - - - - - Macrocephaly-spastic paraplegia-dysmorphism syndrome - - - - - - - - Congenital macroglossia - - - - - - - - Schizencephaly - - - - - - - - Mucocutaneous venous malformations - - - - - - - - Megalencephaly - - - - - - - - Upper limb defect-eye and ear abnormalities syndrome - - - - - - - - Autosomal recessive chorioretinopathy-microcephaly syndrome - - - - - - - - Hypomyelination neuropathy-arthrogryposis syndrome - - - - - - - - Adult idiopathic neutropenia - - - - - - - - Oculo-palato-cerebral syndrome - - - - - - - - Oculotrichodysplasia - - - - - - - - Omodysplasia - - - - - - - - Familial recurrent peripheral facial palsy - - - - - - - - Young-onset Parkinson disease - - - - - - - - Pelvis-shoulder dysplasia - - - - - - - - Short stature-valvular heart disease-characteristic facies syndrome - - - - - - - - Phosphoenolpyruvate carboxykinase deficiency - - - - - - - - Postaxial polydactyly-dental and vertebral anomalies syndrome - - - - - - - - Absent thumb-short stature-immunodeficiency syndrome - - - - - - - - Leukocyte adhesion deficiency - - - - - - - - 46,XX disorder of sex development-skeletal anomalies syndrome - - - - - - - - Blepharophimosis-intellectual disability syndrome, SBBYS type - - - - - - - - Fixed subaortic stenosis - - - - - - - - Autosomal dominant Robinow syndrome - - - - - - - - Alpha-N-acetylgalactosaminidase deficiency - - - - - - - - X-linked spasticity-intellectual disability-epilepsy syndrome - - - - - - - - Congenital pulmonary valvar stenosis - - - - - - - - Deafness-onychodystrophy syndrome - - - - - - - - Idiopathic hypereosinophilic syndrome - - - - - - - - Non-syndromic metopic craniosynostosis - - - - - - - - Truncus arteriosus - - - - - - - - Hereditary xanthinuria - - - - - - - - Hereditary central diabetes insipidus - - - - - - - - Neuroectodermal melanolysosomal disease - - - - - - - - Glutamate-cysteine ligase deficiency - - - - - - - - T-B+ severe combined immunodeficiency due to JAK3 deficiency - - - - - - - - Non-syndromic sagittal craniosynostosis - - - - - - - - Non-syndromic bicoronal craniosynostosis - - - - - - - - Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency - - - - - - - - Lysosomal acid phosphatase deficiency - - - - - - - - Nanophthalmos - - - - - - - - ALDH18A1-related De Barsy syndrome - - - - - - - - Combined deficiency of factor V and factor VIII - - - - - - - - Distal monosomy 1q - - - - - - - - Episodic ataxia type 1 - - - - - - - - Graft versus host disease - - - - - - - - Hereditary myopathy with lactic acidosis due to ISCU deficiency - - - - - - - - Proximal renal tubular acidosis - - - - - - - - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - - - - - - - Lipodystrophy-intellectual disability-deafness syndrome - - - - - - - - Craniolenticulosutural dysplasia - - - - - - - - Branchiogenic deafness syndrome - - - - - - - - Schöpf-Schulz-Passarge syndrome - - - - - - - - Familial short QT syndrome - - - - - - - - Torsade-de-pointes syndrome with short coupling interval - - - - - - - - Braddock syndrome - - - - - - - - Craniosynostosis-intracranial calcifications syndrome - - - - - - - - Ulnar/fibula ray defect-brachydactyly syndrome - - - - - - - - Retinitis punctata albescens - - - - - - - - Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity - - - - - - - - Congenital cornea plana - - - - - - - - Arthrogryposis-anterior horn cell disease syndrome - - - - - - - - Thrombotic thrombocytopenic purpura - - - - - - - - Hydrocephaly-tall stature-joint laxity syndrome - - - - - - - - Adamantinoma - - - - - - - - Schilder disease - - - - - - - - Enlarged parietal foramina - - - - - - - - Pulmonary nodular lymphoid hyperplasia - - - - - - - - Idiopathic bronchiectasis - - - - - - - - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - - - - - - - Distal myopathy with posterior leg and anterior hand involvement - - - - - - - - Childhood absence epilepsy - - - - - - - - Ovarian hyperstimulation syndrome - - - - - - - - Beta-ureidopropionase deficiency - - - - - - - - Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome - - - - - - - - Isolated focal cortical dysplasia - - - - - - - - Arthrogryposis-severe scoliosis syndrome - - - - - - - - Congenital pseudoarthrosis of the clavicle - - - - - - - - Diaphanospondylodysostosis - - - - - - - - Hyaluronidase deficiency - - - - - - - - Thrombocytopenia with congenital dyserythropoietic anemia - - - - - - - - X-linked intellectual disability with isolated growth hormone deficiency - - - - - - - - Idiopathic steroid-sensitive nephrotic syndrome - - - - - - - - Odonto-tricho-ungual-digito-palmar syndrome - - - - - - - - Pure hair and nail ectodermal dysplasia - - - - - - - - Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome - - - - - - - - Anonychia with flexural pigmentation - - - - - - - - Low phospholipid-associated cholelithiasis - - - - - - - - Bosley-Salih-Alorainy syndrome - - - - - - - - Leigh syndrome with cardiomyopathy - - - - - - - - Split hand-split foot-deafness syndrome - - - - - - - - Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome - - - - - - - - Familial thrombocytosis - - - - - - - - Obesity due to prohormone convertase I deficiency - - - - - - - - Dandy-Walker malformation-postaxial polydactyly syndrome - - - - - - - - Obesity due to melanocortin 4 receptor deficiency - - - - - - - - Bleeding diathesis due to a collagen receptor defect - - - - - - - - Familial isolated restrictive cardiomyopathy - - - - - - - - Retinal arterial tortuosity - - - - - - - - Cystoid macular dystrophy - - - - - - - - Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency - - - - - - - - Juvenile polyposis of infancy - - - - - - - - Grange syndrome - - - - - - - - Eiken syndrome - - - - - - - - Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome - - - - - - - - Lymphoid interstitial pneumonia - - - - - - - - DEND syndrome - - - - - - - - Episodic ataxia type 3 - - - - - - - - Episodic ataxia type 4 - - - - - - - - Generalized epilepsy-paroxysmal dyskinesia syndrome - - - - - - - - Hereditary painful callosities - - - - - - - - Familial progressive hyperpigmentation - - - - - - - - Acrokeratosis verruciformis of Hopf - - - - - - - - 2-aminoadipic 2-oxoadipic aciduria - - - - - - - - Seizures-intellectual disability due to hydroxylysinuria syndrome - - - - - - - - Multinodular goiter-cystic kidney-polydactyly syndrome - - - - - - - - Hypoxanthine guanine phosphoribosyltransferase partial deficiency - - - - - - - - Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency - - - - - - - - Pyruvate dehydrogenase E2 deficiency - - - - - - - - Congenital bile acid synthesis defect type 3 - - - - - - - - Vitamin B12-unresponsive methylmalonic acidemia type mut- - - - - - - - - Chondrodysplasia punctata, tibial-metacarpal type - - - - - - - - Chondrodysplasia punctata, Toriello type - - - - - - - - 3-phosphoserine phosphatase deficiency, infantile/juvenile form - - - - - - - - 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form - - - - - - - - Keratoderma hereditarium mutilans with ichthyosis - - - - - - - - Recessive dystrophic epidermolysis bullosa inversa - - - - - - - - Oculocutaneous albinism type 1A - - - - - - - - Oculocutaneous albinism type 4 - - - - - - - - Maculopapular cutaneous mastocytosis - - - - - - - - Cholesterol-ester transfer protein deficiency - - - - - - - - Hypotonia-failure to thrive-microcephaly syndrome - - - - - - - - Autosomal recessive hyperinsulinism due to SUR1 deficiency - - - - - - - - Autosomal recessive hyperinsulinism due to Kir6.2 deficiency - - - - - - - - Glomuvenous malformation - - - - - - - - Enteric anendocrinosis - - - - - - - - Senior-Boichis syndrome - - - - - - - - Hereditary thermosensitive neuropathy - - - - - - - - Desmin-related myopathy with Mallory body-like inclusions - - - - - - - - Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome - - - - - - - - Bothnia retinal dystrophy - - - - - - - - Familial digital arthropathy-brachydactyly - - - - - - - - Microcephalic osteodysplastic dysplasia, Saul-Wilson type - - - - - - - - Craniometadiaphyseal dysplasia, wormian bone type - - - - - - - - Metaphyseal dysplasia, Braun-Tinschert type - - - - - - - - Calvarial doughnut lesions-bone fragility syndrome - - - - - - - - Spondylo-ocular syndrome - - - - - - - - Genochondromatosis type 1 - - - - - - - - X-linked intellectual disability, Armfield type - - - - - - - - X-linked intellectual disability, Cantagrel type - - - - - - - - KDM5C-related syndromic X-linked intellectual disability - - - - - - - - X-linked intellectual disability-cubitus valgus-dysmorphism syndrome - - - - - - - - BRESEK syndrome - - - - - - - - X-linked intellectual disability, Wilson type - - - - - - - - X-linked epilepsy-learning disabilities-behavior disorders syndrome - - - - - - - - HSD10 disease, atypical type - - - - - - - - Deafness-intellectual disability syndrome, Martin-Probst type - - - - - - - - X-linked intellectual disability, Shrimpton type - - - - - - - - X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome - - - - - - - - Fried syndrome - - - - - - - - ATTRV30M amyloidosis - - - - - - - - ATTRV122I amyloidosis - - - - - - - - X-linked reticulate pigmentary disorder - - - - - - - - Helicoid peripapillary chorioretinal degeneration - - - - - - - - Benign adult familial myoclonic epilepsy - - - - - - - - Aplasia of lacrimal and salivary glands - - - - - - - - Hemolytic anemia due to adenylate kinase deficiency - - - - - - - - Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome - - - - - - - - Atrichia with papular lesions - - - - - - - - Lissencephaly type 3-metacarpal bone dysplasia syndrome - - - - - - - - Chronic myeloproliferative disease, unclassifiable - - - - - - - - Interdigitating dendritic cell sarcoma - - - - - - - - Keratosis palmaris et plantaris-clinodactyly syndrome - - - - - - - - Hereditary palmoplantar keratoderma, Gamborg-Nielsen type - - - - - - - - Tritanopia - - - - - - - - Terminal osseous dysplasia-pigmentary defects syndrome - - - - - - - - Vacuolar myopathy with sarcoplasmic reticulum protein aggregates - - - - - - - - Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome - - - - - - - - Autosomal dominant progressive nephropathy with hypertension - - - - - - - - Hepatocellular carcinoma - - - - - - - - X-linked Alport syndrome - - - - - - - - Pseudohypoaldosteronism type 2A - - - - - - - - Pseudohypoaldosteronism type 2B - - - - - - - - Pseudohypoaldosteronism type 2C - - - - - - - - Autosomal recessive generalized epidermolysis bullosa simplex - - - - - - - - Dystrophic epidermolysis bullosa pruriginosa - - - - - - - - Lissencephaly syndrome, Norman-Roberts type - - - - - - - - Autosomal dominant hypophosphatemic rickets - - - - - - - - X-linked cone dysfunction syndrome with myopia - - - - - - - - Primary immunodeficiency syndrome due to LAMTOR2 deficiency - - - - - - - - Hemolytic anemia due to glutathione reductase deficiency - - - - - - - - Familial pseudohyperkalemia - - - - - - - - Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome - - - - - - - - Hereditary motor and sensory neuropathy type 6 - - - - - - - - Klippel-Trénaunay syndrome - - - - - - - - Hypotrichosis simplex of the scalp - - - - - - - - X-linked non-syndromic sensorineural deafness type DFN - - - - - - - - Autosomal dominant non-syndromic sensorineural deafness type DFNA - - - - - - - - Mitochondrial non-syndromic sensorineural deafness - - - - - - - - Hypothyroidism due to TSH receptor mutations - - - - - - - - 46,XY disorder of sex development due to isolated 17,20-lyase deficiency - - - - - - - - Cardiomyopathy-hypotonia-lactic acidosis syndrome - - - - - - - - Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency - - - - - - - - Isolated cryptophthalmia - - - - - - - - Congenital ptosis - - - - - - - - Isolated congenital alacrima - - - - - - - - Symbrachydactyly of hands and feet - - - - - - - - Isolated congenital sclerocornea - - - - - - - - Early-onset non-syndromic cataract - - - - - - - - Macular coloboma-cleft palate-hallux valgus syndrome - - - - - - - - Persistent hyperplastic primary vitreous - - - - - - - - Renal agenesis, unilateral - - - - - - - - Hypocalcemic vitamin D-resistant rickets - - - - - - - - Fragile X-associated tremor/ataxia syndrome - - - - - - - - Pfeiffer syndrome type 1 - - - - - - - - Pfeiffer syndrome type 2 - - - - - - - - Pfeiffer syndrome type 3 - - - - - - - - Crouzon syndrome-acanthosis nigricans syndrome - - - - - - - - Cloverleaf skull-multiple congenital anomalies syndrome - - - - - - - - Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis - - - - - - - - Spondyloepimetaphyseal dysplasia, PAPSS2 type - - - - - - - - Spondyloepiphyseal dysplasia, Kimberley type - - - - - - - - Hypochondrogenesis - - - - - - - - Brachyolmia, Maroteaux type - - - - - - - - Postaxial polydactyly type A - - - - - - - - Postaxial polydactyly type B - - - - - - - - Spondyloepimetaphyseal dysplasia, Irapa type - - - - - - - - Genochondromatosis type 2 - - - - - - - - Brachydactyly-syndactyly, Zhao type - - - - - - - - Ciliopathies with major skeletal involvement - - - - - - - - Atypical hemolytic uremic syndrome with anti-factor H antibodies - - - - - - - - Late-onset nephronophthisis - - - - - - - - Infantile nephronophthisis - - - - - - - - Autosomal recessive proximal renal tubular acidosis - - - - - - - - Cystinuria type A - - - - - - - - Cystinuria type B - - - - - - - - Hemoglobin H disease - - - - - - - - Lobar holoprosencephaly - - - - - - - - Alobar holoprosencephaly - - - - - - - - Midline interhemispheric variant of holoprosencephaly - - - - - - - - Laryngotracheoesophageal cleft type 3 - - - - - - - - X-linked intellectual disability, Hedera type - - - - - - - - Anotia - - - - - - - - Cerebellar ataxia, Cayman type - - - - - - - - Anonychia congenita totalis - - - - - - - - Lissencephaly due to LIS1 mutation - - - - - - - - Familial adrenal hypoplasia with absent pituitary luteinizing hormone - - - - - - - - Deafness-ear malformation-facial palsy syndrome - - - - - - - - Non-syndromic posterior hypospadias - - - - - - - - Thyroid ectopia - - - - - - - - Athyreosis - - - - - - - - Familial thyroid dyshormonogenesis - - - - - - - - Thyroid hemiagenesis - - - - - - - - Distal monosomy 6p - - - - - - - - Kleefstra syndrome due to 9q34 microdeletion - - - - - - - - Monosomy 13q34 - - - - - - - - Temple syndrome due to maternal uniparental disomy of chromosome 14 - - - - - - - - Maternal uniparental disomy of chromosome 20 - - - - - - - - DOORS syndrome - - - - - - - - Somatotropic adenoma - - - - - - - - Leydig cell hypoplasia due to complete LH resistance - - - - - - - - Leydig cell hypoplasia due to partial LH resistance - - - - - - - - Familial papillary thyroid carcinoma with renal papillary neoplasia - - - - - - - - Renal tubular dysgenesis of genetic origin - - - - - - - - Lymphoproliferative disease associated with primary immune disease - - - - - - - - Hereditary combined deficiency of vitamin K-dependent clotting factors - - - - - - - - Developmental defect of the eye - - - - - - - - Syndromic orbital border hypoplasia - - - - - - - - Rare isolated myopia - - - - - - - - Deafness-craniofacial syndrome - - - - - - - - Autosomal recessive isolated optic atrophy - - - - - - - - Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - - - - - - - - Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 - - - - - - - - Acute undifferentiated leukemia - - - - - - - - Desquamative interstitial pneumonia - - - - - - - - Autosomal dominant Emery-Dreifuss muscular dystrophy - - - - - - - - Autosomal recessive Emery-Dreifuss muscular dystrophy - - - - - - - - Southeast Asian ovalocytosis - - - - - - - - Bleeding diathesis due to integrin alpha2-beta1 deficiency - - - - - - - - Congenital myopathy with excess of thin filaments - - - - - - - - Deafness-enamel hypoplasia-nail defects syndrome - - - - - - - - Desminopathy - - - - - - - - Distal myotilinopathy - - - - - - - - Synaptic congenital myasthenic syndromes - - - - - - - - Acute inflammatory demyelinating polyradiculoneuropathy - - - - - - - - Huntington disease-like 2 - - - - - - - - Coloboma of choroid and retina - - - - - - - - Complete cryptophthalmia - - - - - - - - Lisch epithelial corneal dystrophy - - - - - - - - Subepithelial mucinous corneal dystrophy - - - - - - - - Fleck corneal dystrophy - - - - - - - - Deafness-epiphyseal dysplasia-short stature syndrome - - - - - - - - Posterior amorphous corneal dystrophy - - - - - - - - Central cloudy dystrophy of François - - - - - - - - Posterior polymorphous corneal dystrophy - - - - - - - - Juvenile glaucoma - - - - - - - - Pulverulent cataract - - - - - - - - Early-onset sutural cataract - - - - - - - - Coralliform cataract - - - - - - - - Early-onset nuclear cataract - - - - - - - - Early-onset partial cataract - - - - - - - - Early-onset posterior polar cataract - - - - - - - - Butterfly-shaped pigment dystrophy - - - - - - - - Reticular dystrophy of the retinal pigment epithelium - - - - - - - - Discrete fixed membranous subaortic stenosis - - - - - - - - Complete atrioventricular septal defect with ventricular hypoplasia - - - - - - - - Complete atrioventricular septal defect-tetralogy of Fallot - - - - - - - - Interventricular septum aneurysm - - - - - - - - Congenital total pulmonary venous return anomaly - - - - - - - - 6-phosphogluconate dehydrogenase deficiency - - - - - - - - Lymphedema-posterior choanal atresia syndrome - - - - - - - - Isolated distichiasis - - - - - - - - Schneckenbecken dysplasia - - - - - - - - Kandori fleck retina - - - - - - - - Familial medullary thyroid carcinoma - - - - - - - - Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria - - - - - - - - Fried's tooth and nail syndrome - - - - - - - - Myotonia fluctuans - - - - - - - - Myotonia permanens - - - - - - - - Acetazolamide-responsive myotonia - - - - - - - - Cleft velum - - - - - - - - Oligodontia - - - - - - - - Haddad syndrome - - - - - - - - Deafness-hypogonadism syndrome - - - - - - - - Oculootodental syndrome - - - - - - - - PEHO-like syndrome - - - - - - - - Turcot syndrome with polyposis - - - - - - - - Familial gestational hyperthyroidism - - - - - - - - Resistance to thyrotropin-releasing hormone syndrome - - - - - - - - Leukocyte adhesion deficiency type III - - - - - - - - Genetic recurrent myoglobinuria - - - - - - - - Autosomal dominant myoglobinuria - - - - - - - - Ovarioleukodystrophy - - - - - - - - Cree leukoencephalopathy - - - - - - - - Precursor B-cell acute lymphoblastic leukemia - - - - - - - - Spermatocytic seminoma - - - - - - - - Thymoma - - - - - - - - Familial isolated hyperparathyroidism - - - - - - - - Pigeon-breeder lung disease - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2A2 - - - - - - - - Atypical teratoid rhabdoid tumor - - - - - - - - Adenocarcinoma of the esophagus - - - - - - - - Complex regional pain syndrome type 1 - - - - - - - - ABeta amyloidosis, Dutch type - - - - - - - - ACys amyloidosis - - - - - - - - Hypocalcified amelogenesis imperfecta - - - - - - - - Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism - - - - - - - - Hereditary angioedema type 1 - - - - - - - - Hereditary angioedema type 2 - - - - - - - - F12-related hereditary angioedema with normal C1Inh - - - - - - - - Renin-angiotensin-aldosterone system-blocker-induced angioedema - - - - - - - - Porphyria due to ALA dehydratase deficiency - - - - - - - - Bathing suit ichthyosis - - - - - - - - Autosomal recessive spastic paraplegia type 21 - - - - - - - - Autosomal recessive spastic paraplegia type 27 - - - - - - - - Autosomal recessive spastic paraplegia type 28 - - - - - - - - Autosomal spastic paraplegia type 30 - - - - - - - - Congenital stromal corneal dystrophy - - - - - - - - Familial isolated congenital asplenia - - - - - - - - Congenital sodium diarrhea - - - - - - - - Tropical pancreatitis - - - - - - - - Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome - - - - - - - - Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome - - - - - - - - Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 - - - - - - - - Lowe-Kohn-Cohen syndrome - - - - - - - - Hypotonia with lactic acidemia and hyperammonemia - - - - - - - - Choanal atresia - - - - - - - - 17q11.2 microduplication syndrome - - - - - - - - Distal hereditary motor neuropathy type 1 - - - - - - - - Distal hereditary motor neuropathy type 2 - - - - - - - - Distal hereditary motor neuropathy type 5 - - - - - - - - Distal spinal muscular atrophy type 3 - - - - - - - - X-linked distal spinal muscular atrophy type 3 - - - - - - - - Hereditary sensory and autonomic neuropathy type 1B - - - - - - - - Mutilating hereditary sensory neuropathy with spastic paraplegia - - - - - - - - Isolated growth hormone deficiency type II - - - - - - - - Distal hereditary motor neuropathy type 7 - - - - - - - - Primary intraosseous venous malformation - - - - - - - - Autosomal dominant slowed nerve conduction velocity - - - - - - - - Brachydactyly type B2 - - - - - - - - Short stature due to primary acid-labile subunit deficiency - - - - - - - - Autosomal dominant macrothrombocytopenia - - - - - - - - Bilateral microtia-deafness-cleft palate syndrome - - - - - - - - Palmoplantar keratoderma, Nagashima type - - - - - - - - Second branchial cleft anomaly - - - - - - - - External auditory canal aplasia/hypoplasia - - - - - - - - - Deafness, autosomal recessive 1a - - - - - - - - Nasal dermoid cyst - - - - - - - - Hemifacial hyperplasia - - - - - - - - Isolated congenital hypoglossia/aglossia - - - - - - - - Paramedian nasal cleft - - - - - - - - Tessier number 4 facial cleft - - - - - - - - Tessier number 7 facial cleft - - - - - - - - Cleft lip and alveolus - - - - - - - - Hereditary hypophosphatemic rickets with hypercalciuria - - - - - - - - Congenital or early infantile CACH syndrome - - - - - - - - Late infantile CACH syndrome - - - - - - - - Deafness-oligodontia syndrome - - - - - - - - Juvenile or adult CACH syndrome - - - - - - - - Hereditary mixed polyposis syndrome - - - - - - - - Serrated polyposis syndrome - - - - - - - - Cold-induced sweating syndrome - - - - - - - - Craniorhiny - - - - - - - - Huntington disease-like 1 - - - - - - - - Huntington disease-like 3 - - - - - - - - ANE syndrome - - - - - - - - Oculoauricular syndrome, Schorderet type - - - - - - - - Hereditary progressive mucinous histiocytosis - - - - - - - - Epidermolysis bullosa simplex with circinate migratory erythema - - - - - - - - Epidermolysis bullosa simplex with pyloric atresia - - - - - - - - Hb Bart's hydrops fetalis - - - - - - - - Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome - - - - - - - - Spondyloepiphyseal dysplasia, Reardon type - - - - - - - - Spondyloepiphyseal dysplasia tarda, Kohn type - - - - - - - - Spondyloepiphyseal dysplasia, MacDermot type - - - - - - - - CNTNAP2-related developmental and epileptic encephalopathy - - - - - - - - Hypotonia-cystinuria syndrome - - - - - - - - 2p21 microdeletion syndrome - - - - - - - - Arachnoid cyst - - - - - - - - Action myoclonus-renal failure syndrome - - - - - - - - Benign familial mesial temporal lobe epilepsy - - - - - - - - Rolandic epilepsy-speech dyspraxia syndrome - - - - - - - - Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome - - - - - - - - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - - - - - - - X-linked intellectual disability, Nascimento type - - - - - - - - X-linked cerebral-cerebellar-coloboma syndrome - - - - - - - - X-linked dominant chondrodysplasia, Chassaing-Lacombe type - - - - - - - - X-linked intellectual disability, Van Esch type - - - - - - - - X-linked intellectual disability-craniofacioskeletal syndrome - - - - - - - - Hyperekplexia-epilepsy syndrome - - - - - - - - Familial mesial temporal lobe epilepsy with febrile seizures - - - - - - - - Multiple epiphyseal dysplasia, Beighton type - - - - - - - - Multiple epiphyseal dysplasia, Lowry type - - - - - - - - Multiple epiphyseal dysplasia, Al-Gazali type - - - - - - - - Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia - - - - - - - - Multiple epiphyseal dysplasia, with miniepiphyses - - - - - - - - Brachydactyly-short stature-retinitis pigmentosa syndrome - - - - - - - - Metaphyseal chondrodysplasia, Kaitila type - - - - - - - - Von Willebrand disease type 1 - - - - - - - - Von Willebrand disease type 2 - - - - - - - - Von Willebrand disease type 2A - - - - - - - - Von Willebrand disease type 2B - - - - - - - - Von Willebrand disease type 2M - - - - - - - - Von Willebrand disease type 2N - - - - - - - - Von Willebrand disease type 3 - - - - - - - - FASTKD2-related infantile mitochondrial encephalomyopathy - - - - - - - - Isolated osteopoikilosis - - - - - - - - Hot water reflex epilepsy - - - - - - - - Reading seizures - - - - - - - - Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome - - - - - - - - Congenital neuronal ceroid lipofuscinosis - - - - - - - - Late infantile neuronal ceroid lipofuscinosis - - - - - - - - 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency - - - - - - - - 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome - - - - - - - - Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 - - - - - - - - Hereditary cryohydrocytosis with reduced stomatin - - - - - - - - Hereditary North American Indian childhood cirrhosis - - - - - - - - Congenital enteropathy due to enteropeptidase deficiency - - - - - - - - Seborrhea-like dermatitis with psoriasiform elements - - - - - - - - Congenital deficiency in alpha-fetoprotein - - - - - - - - Autosomal thrombocytopenia with normal platelets - - - - - - - - Generalized basaloid follicular hamartoma syndrome - - - - - - - - Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement - - - - - - - - CLAPO syndrome - - - - - - - - Cernunnos-XLF deficiency - - - - - - - - Combined immunodeficiency due to CD3gamma deficiency - - - - - - - - Susceptibility to respiratory infections associated with CD8alpha chain mutation - - - - - - - - Combined immunodeficiency due to CRAC channel dysfunction - - - - - - - - Immunodeficiency due to CD25 deficiency - - - - - - - - Deafness-vitiligo-achalasia syndrome - - - - - - - - Immunodeficiency due to a late component of complement deficiency - - - - - - - - T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency - - - - - - - - T-B+ severe combined immunodeficiency due to CD45 deficiency - - - - - - - - T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta - - - - - - - - Primary CD59 deficiency - - - - - - - - Recurrent Neisseria infections due to factor D deficiency - - - - - - - - Severe hemophilia B - - - - - - - - Moderate hemophilia B - - - - - - - - Mild hemophilia B - - - - - - - - Severe hemophilia A - - - - - - - - Moderate hemophilia A - - - - - - - - Mild hemophilia A - - - - - - - - Muscle filaminopathy - - - - - - - - X-linked spastic paraplegia type 34 - - - - - - - - Autosomal dominant spastic paraplegia type 37 - - - - - - - - Autosomal dominant spastic paraplegia type 38 - - - - - - - - Lissencephaly due to TUBA1A mutation - - - - - - - - Metabolic myopathy due to lactate transporter defect - - - - - - - - Short stature-delayed bone age due to thyroid hormone metabolism deficiency - - - - - - - - Cutis laxa-Marfanoid syndrome - - - - - - - - Blindness-scoliosis-arachnodactyly syndrome - - - - - - - - Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome - - - - - - - - MEDNIK syndrome - - - - - - - - Autosomal dominant spastic paraplegia type 42 - - - - - - - - Prader-Willi syndrome due to translocation - - - - - - - - Prader-Willi syndrome due to imprinting mutation - - - - - - - - Bleeding disorder in hemophilia A carriers - - - - - - - - Bleeding disorder in hemophilia B carriers - - - - - - - - Moderate multiminicore disease with hand involvement - - - - - - - - Reticulate acropigmentation of Kitamura - - - - - - - - - Deafness, autosomal dominant 23 - - - - - - - - Distal myopathy with anterior tibial onset - - - - - - - - X-linked myopathy with postural muscle atrophy - - - - - - - - Brain calcification, Rajab type - - - - - - - - Obesity due to leptin receptor gene deficiency - - - - - - - - Hyper-IgM syndrome with susceptibility to opportunistic infections - - - - - - - - Hyper-IgM syndrome without susceptibility to opportunistic infections - - - - - - - - Recurrent infections associated with rare immunoglobulin isotypes deficiency - - - - - - - - Neutrophil immunodeficiency syndrome - - - - - - - - Familial isolated hypoparathyroidism due to impaired PTH secretion - - - - - - - - Familial angiolipomatosis - - - - - - - - Hereditary hypercarotenemia and vitamin A deficiency - - - - - - - - Isolated cleft lip - - - - - - - - Cleft lip/palate - - - - - - - - Familial clubfoot with or without associated lower limb anomalies - - - - - - - - Endocrine-cerebro-osteodysplasia syndrome - - - - - - - - Pancreatic insufficiency-anemia-hyperostosis syndrome - - - - - - - - Muscular dystrophy, Selcen type - - - - - - - - Thiamine-responsive encephalopathy - - - - - - - - Immunodeficiency with factor I anomaly - - - - - - - - Immunodeficiency with factor H anomaly - - - - - - - - Gonadoblastoma - - - - - - - - Autosomal recessive lower motor neuron disease with childhood onset - - - - - - - - Autosomal dominant adult-onset proximal spinal muscular atrophy - - - - - - - - Severe neonatal-onset encephalopathy with microcephaly - - - - - - - - Autosomal dominant rhegmatogenous retinal detachment - - - - - - - - Extraskeletal myxoid chondrosarcoma - - - - - - - - Idiopathic copper-associated cirrhosis - - - - - - - - Episodic ataxia type 6 - - - - - - - - Episodic ataxia type 7 - - - - - - - - Inherited congenital spastic tetraplegia - - - - - - - - Lethal polymalformative syndrome, Boissel type - - - - - - - - Congenital lethal myopathy, Compton-North type - - - - - - - - Macrocephaly-intellectual disability-autism syndrome - - - - - - - - Episodic ataxia type 5 - - - - - - - - Classic pantothenate kinase-associated neurodegeneration - - - - - - - - Atypical pantothenate kinase-associated neurodegeneration - - - - - - - - Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type - - - - - - - - Isolated congenital digital clubbing - - - - - - - - Mucopolysaccharidosis type 2, severe form - - - - - - - - Mucopolysaccharidosis type 2, attenuated form - - - - - - - - RIN2 syndrome - - - - - - - - 17q21.31 microduplication syndrome - - - - - - - - 17p13.3 microduplication syndrome - - - - - - - - Progressive polyneuropathy with bilateral striatal necrosis - - - - - - - - Hereditary hypotrichosis with recurrent skin vesicles - - - - - - - - Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency - - - - - - - - Neonatal acute respiratory distress due to SP-B deficiency - - - - - - - - Chronic respiratory distress with surfactant metabolism deficiency - - - - - - - - Sensorineural deafness with dilated cardiomyopathy - - - - - - - - Familial isolated arrhythmogenic right ventricular dysplasia - - - - - - - - Xeroderma pigmentosum-Cockayne syndrome complex - - - - - - - - Semilobar holoprosencephaly - - - - - - - - Bleeding diathesis due to thromboxane synthesis deficiency - - - - - - - - Laron syndrome with immunodeficiency - - - - - - - - Rothmund-Thomson syndrome type 1 - - - - - - - - Rothmund-Thomson syndrome type 2 - - - - - - - - Hereditary sclerosing poikiloderma, Weary type - - - - - - - - Hemifacial spasm - - - - - - - - Fowler vasculopaty - - - - - - - - Combined immunodeficiency with faciooculoskeletal anomalies - - - - - - - - Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies - - - - - - - - Familial infantile bilateral striatal necrosis - - - - - - - - Hereditary breast cancer - - - - - - - - Autosomal recessive optic atrophy, OPA7 type - - - - - - - - Severe combined immunodeficiency due to CORO1A deficiency - - - - - - - - Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome - - - - - - - - Autosomal dominant striatal neurodegeneration - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2M - - - - - - - - Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome - - - - - - - - Carnitine palmitoyl transferase II deficiency, myopathic form - - - - - - - - Carnitine palmitoyl transferase II deficiency, severe infantile form - - - - - - - - Carnitine palmitoyl transferase II deficiency, neonatal form - - - - - - - - CLN8 disease - - - - - - - - Charcot-Marie-Tooth disease type 2B5 - - - - - - - - Spondylo-megaepiphyseal-metaphyseal dysplasia - - - - - - - - Isolated agammaglobulinemia - - - - - - - - Ehlers-Danlos/osteogenesis imperfecta syndrome - - - - - - - - Erythema palmare hereditarium - - - - - - - - Familial generalized lentiginosis - - - - - - - - Familial rhabdoid tumor - - - - - - - - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - - - - - - - Familial cerebral saccular aneurysm - - - - - - - - Beta-thalassemia major - - - - - - - - Beta-thalassemia intermedia - - - - - - - - Dominant beta-thalassemia - - - - - - - - Delta-beta-thalassemia - - - - - - - - Beta-thalassemia-X-linked thrombocytopenia syndrome - - - - - - - - Alpha-thalassemia-myelodysplastic syndrome - - - - - - - - Hermansky-Pudlak syndrome due to BLOC-3 deficiency - - - - - - - - Hermansky-Pudlak syndrome due to BLOC-2 deficiency - - - - - - - - Hermansky-Pudlak syndrome due to BLOC-1 deficiency - - - - - - - - Severe X-linked mitochondrial encephalomyopathy - - - - - - - - 15q11q13 microduplication syndrome - - - - - - - - Familial hypercholanemia - - - - - - - - Combined immunodeficiency due to CD27 deficiency - - - - - - - - Atypical hypotonia-cystinuria syndrome - - - - - - - - Chuvash erythrocytosis - - - - - - - - Familial clubfoot due to 17q23.1q23.2 microduplication - - - - - - - - Beckwith-Wiedemann syndrome due to NSD1 mutation - - - - - - - - Isolated thyrotropin-releasing hormone deficiency - - - - - - - - Mammary-digital-nail syndrome - - - - - - - - 4q21 microdeletion syndrome - - - - - - - - Classic progressive supranuclear palsy syndrome - - - - - - - - Progressive supranuclear palsy-parkinsonism syndrome - - - - - - - - Nijmegen breakage syndrome-like disorder - - - - - - - - Dimethylglycine dehydrogenase deficiency - - - - - - - - Dominant hypophosphatemia with nephrolithiasis or osteoporosis - - - - - - - - Progressive cerebello-cerebral atrophy - - - - - - - - Hyperphosphatasia-intellectual disability syndrome - - - - - - - - Autosomal dominant secondary polycythemia - - - - - - - - Primary ciliary dyskinesia-retinitis pigmentosa syndrome - - - - - - - - Perinatal lethal hypophosphatasia - - - - - - - - Infantile hypophosphatasia - - - - - - - - Adult hypophosphatasia - - - - - - - - Odontohypophosphatasia - - - - - - - - Müllerian aplasia and hyperandrogenism - - - - - - - - Juvenile cataract-microcornea-renal glucosuria syndrome - - - - - - - - APC-related attenuated familial adenomatous polyposis - - - - - - - - Ectodermal dysplasia-syndactyly syndrome - - - - - - - - Ectodermal dysplasia-cutaneous syndactyly syndrome - - - - - - - - Macrocephaly-short stature-paraplegia syndrome - - - - - - - - Occult macular dystrophy - - - - - - - - NLRP12-associated hereditary periodic fever syndrome - - - - - - - - Familial hypodysfibrinogenemia - - - - - - - - Autosomal recessive Stickler syndrome - - - - - - - - SATB2-associated syndrome due to a chromosomal rearrangement - - - - - - - - Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome - - - - - - - - Autosomal dominant spastic ataxia type 1 - - - - - - - - Parietal foramina with clavicular hypoplasia - - - - - - - - Pigmented paravenous retinochoroidal atrophy - - - - - - - - Ataxia-telangiectasia-like disorder - - - - - - - - CK syndrome - - - - - - - - 46,XY partial gonadal dysgenesis - - - - - - - - Distal arthrogryposis type 10 - - - - - - - - Hyperzincemia and hypercalprotectinemia - - - - - - - - Medulloblastoma with extensive nodularity - - - - - - - - Desmoplastic/nodular medulloblastoma - - - - - - - - Classic medulloblastoma - - - - - - - - Constitutional mismatch repair deficiency syndrome - - - - - - - - Distal 7q11.23 microdeletion syndrome - - - - - - - - Kagami-Ogata syndrome - - - - - - - - Erythrokeratoderma ''en cocardes'' - - - - - - - - Temple syndrome due to paternal 14q32.2 microdeletion - - - - - - - - Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion - - - - - - - - Temple syndrome due to paternal 14q32.2 hypomethylation - - - - - - - - Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation - - - - - - - - Complete hydatidiform mole - - - - - - - - Mitochondrial DNA depletion syndrome, encephalomyopathic form - - - - - - - - Lethal infantile mitochondrial myopathy - - - - - - - - Mitochondrial myopathy with reversible cytochrome C oxidase deficiency - - - - - - - - Mitochondrial DNA depletion syndrome, myopathic form - - - - - - - - Spinocerebellar ataxia with epilepsy - - - - - - - - Deafness-encephaloneuropathy-obesity-valvulopathy syndrome - - - - - - - - Renal tubulopathy-encephalopathy-liver failure syndrome - - - - - - - - Combined oxidative phosphorylation defect type 2 - - - - - - - - Combined oxidative phosphorylation defect type 4 - - - - - - - - Combined oxidative phosphorylation defect type 7 - - - - - - - - Adult-onset autosomal recessive sideroblastic anemia - - - - - - - - Pyruvate dehydrogenase E1-beta deficiency - - - - - - - - Pyruvate dehydrogenase E3-binding protein deficiency - - - - - - - - Leigh syndrome with leukodystrophy - - - - - - - - Leigh syndrome with nephrotic syndrome - - - - - - - - Autosomal recessive sideroblastic anemia - - - - - - - - 14q11.2 microdeletion syndrome - - - - - - - - 15q14 microdeletion syndrome - - - - - - - - 16p11.2p12.2 microdeletion syndrome - - - - - - - - Distal 16p11.2 microdeletion syndrome - - - - - - - - Distal 22q11.2 microdeletion syndrome - - - - - - - - Xp21 deletion syndrome - - - - - - - - Xq27.3q28 duplication syndrome - - - - - - - - Mowat-Wilson syndrome due to monosomy 2q22 - - - - - - - - Mowat-Wilson syndrome due to a ZEB2 point mutation - - - - - - - - Alagille syndrome due to 20p12 microdeletion - - - - - - - - Alagille syndrome due to a JAG1 point mutation - - - - - - - - Alagille syndrome due to a NOTCH2 point mutation - - - - - - - - Kleefstra syndrome due to a point mutation - - - - - - - - Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency - - - - - - - - MRCS syndrome - - - - - - - - Hyperinsulinism due to INSR deficiency - - - - - - - - Acute necrotizing encephalopathy of childhood - - - - - - - - Peeling skin syndrome type A - - - - - - - - Peeling skin syndrome type B - - - - - - - - Familial multiple meningioma - - - - - - - - Glycogen storage disease due to liver phosphorylase kinase deficiency - - - - - - - - RAS-associated autoimmune leukoproliferative disease - - - - - - - - Classic maple syrup urine disease - - - - - - - - Intermediate maple syrup urine disease - - - - - - - - Intermittent maple syrup urine disease - - - - - - - - Thiamine-responsive maple syrup urine disease - - - - - - - - Hereditary thrombocytopenia with normal platelets - - - - - - - - Neural tube closure defect - - - - - - - - Bilateral polymicrogyria - - - - - - - - Delayed membranous cranial ossification - - - - - - - - Isolated focal cortical dysplasia type IIa - - - - - - - - Isolated focal cortical dysplasia type IIb - - - - - - - - Congenital non-communicating hydrocephalus - - - - - - - - Frontotemporal dementia with motor neuron disease - - - - - - - - Benign epithelial tumor of salivary glands - - - - - - - - Multiple endocrine neoplasia type 4 - - - - - - - - Spinocerebellar ataxia type 32 - - - - - - - - Non-syndromic male infertility due to sperm motility disorder - - - - - - - - Familial multinodular goiter - - - - - - - - Hyperbiliverdinemia - - - - - - - - 10q22.3q23.3 microdeletion syndrome - - - - - - - - Ogden syndrome - - - - - - - - Lower motor neuron syndrome with late-adult onset - - - - - - - - Autosomal dominant hyperinsulinism due to SUR1 deficiency - - - - - - - - Autosomal dominant hyperinsulinism due to Kir6.2 deficiency - - - - - - - - Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency - - - - - - - - Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency - - - - - - - - Hereditary neutrophilia - - - - - - - - Severe combined immunodeficiency due to LCK deficiency - - - - - - - - Septopreoptic holoprosencephaly - - - - - - - - Microform holoprosencephaly - - - - - - - - Pelizaeus-Merzbacher disease, connatal form - - - - - - - - Null syndrome - - - - - - - - Pelizaeus-Merzbacher-like disease due to GJC2 mutation - - - - - - - - Pelizaeus-Merzbacher-like disease due to HSPD1 mutation - - - - - - - - Familial steroid-resistant nephrotic syndrome with sensorineural deafness - - - - - - - - Fatal infantile hypertonic myofibrillar myopathy - - - - - - - - Hemoglobinopathy Toms River - - - - - - - - Familial progressive hyper- and hypopigmentation - - - - - - - - Occipital pachygyria and polymicrogyria - - - - - - - - Acrodysostosis with multiple hormone resistance - - - - - - - - Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome - - - - - - - - Syndromic recessive X-linked ichthyosis - - - - - - - - Self-improving collodion baby - - - - - - - - Annular epidermolytic ichthyosis - - - - - - - - Congenital reticular ichthyosiform erythroderma - - - - - - - - Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome - - - - - - - - Inherited Creutzfeldt-Jakob disease - - - - - - - - Larsen-like syndrome, B3GAT3 type - - - - - - - - Craniosynostosis-dental anomalies - - - - - - - - 8q21.11 microdeletion syndrome - - - - - - - - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion - - - - - - - - Autosomal recessive cerebellar ataxia-psychomotor delay syndrome - - - - - - - - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency - - - - - - - - Adult-onset autosomal recessive cerebellar ataxia - - - - - - - - Pontocerebellar hypoplasia type 7 - - - - - - - - Glycerol kinase deficiency, juvenile form - - - - - - - - Glycerol kinase deficiency, adult form - - - - - - - - Marfan syndrome type 2 - - - - - - - - Hypocalcemic vitamin D-dependent rickets - - - - - - - - Autosomal recessive hypophosphatemic rickets - - - - - - - - Hypermethioninemia encephalopathy due to adenosine kinase deficiency - - - - - - - - Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency - - - - - - - - Familial vesicoureteral reflux - - - - - - - - Early-onset myopathy with fatal cardiomyopathy - - - - - - - - Myosclerosis - - - - - - - - Intellectual disability-alacrima-achalasia syndrome - - - - - - - - Congenital cataract microcornea with corneal opacity - - - - - - - - Dysmorphism-conductive hearing loss-heart defect syndrome - - - - - - - - Exfoliative ichthyosis - - - - - - - - Glutathione synthetase deficiency with 5-oxoprolinuria - - - - - - - - Glutathione synthetase deficiency without 5-oxoprolinuria - - - - - - - - Neonatal glycine encephalopathy - - - - - - - - Infantile glycine encephalopathy - - - - - - - - Atypical glycine encephalopathy - - - - - - - - Vitamin B12-unresponsive methylmalonic acidemia type mut0 - - - - - - - - Familial clubfoot due to 5q31 microdeletion - - - - - - - - Familial clubfoot due to PITX1 point mutation - - - - - - - - Epithelial recurrent erosion dystrophy - - - - - - - - X-linked endothelial corneal dystrophy - - - - - - - - PYCR1-related De Barsy syndrome - - - - - - - - Blepharophimosis-intellectual disability syndrome, MKB type - - - - - - - - Blepharophimosis-intellectual disability syndrome, Verloes type - - - - - - - - MITF-related melanoma and renal cell carcinoma predisposition syndrome - - - - - - - - Congenital dyserythropoietic anemia type IV - - - - - - - - Familial isolated arrhythmogenic ventricular dysplasia, left dominant form - - - - - - - - Familial isolated arrhythmogenic ventricular dysplasia, biventricular form - - - - - - - - Familial isolated arrhythmogenic ventricular dysplasia, right dominant form - - - - - - - - Lethal occipital encephalocele-skeletal dysplasia syndrome - - - - - - - - EDICT syndrome - - - - - - - - Distal Xq28 microduplication syndrome - - - - - - - - Hypertelorism-preauricular sinus-punctual pits-deafness syndrome - - - - - - - - Hypoinsulinemic hypoglycemia and body hemihypertrophy - - - - - - - - Deficiency in anterior pituitary function-variable immunodeficiency syndrome - - - - - - - - Microcephaly-capillary malformation syndrome - - - - - - - - Neonatal inflammatory skin and bowel disease - - - - - - - - Renal-hepatic-pancreatic dysplasia - - - - - - - - Zygodactyly type 1 - - - - - - - - Synpolydactyly type 1 - - - - - - - - Synpolydactyly type 2 - - - - - - - - Synpolydactyly type 3 - - - - - - - - Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency - - - - - - - - Connective tissue disorder due to lysyl hydroxylase-3 deficiency - - - - - - - - Transient infantile hypertriglyceridemia and hepatosteatosis - - - - - - - - Severe congenital hypochromic anemia with ringed sideroblasts - - - - - - - - Congenital cataract-hearing loss-severe developmental delay syndrome - - - - - - - - Persistent polyclonal B-cell lymphocytosis - - - - - - - - Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome - - - - - - - - Autosomal systemic lupus erythematosus - - - - - - - - PLCG2-associated antibody deficiency and immune dysregulation - - - - - - - - X-linked acrogigantism - - - - - - - - Progeroid and marfanoid aspect-lipodystrophy syndrome - - - - - - - - Pseudohypoaldosteronism type 2D - - - - - - - - Pseudohypoaldosteronism type 2E - - - - - - - - Autosomal recessive infantile hypercalcemia - - - - - - - - Polymicrogyria due to TUBB2B mutation - - - - - - - - Oligodontia-cancer predisposition syndrome - - - - - - - - Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome - - - - - - - - Autosomal recessive spastic paraplegia type 48 - - - - - - - - Congenital hereditary facial paralysis-variable hearing loss syndrome - - - - - - - - Porencephaly-microcephaly-bilateral congenital cataract syndrome - - - - - - - - Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome - - - - - - - - Sodium channelopathy-related small fiber neuropathy - - - - - - - - Primary dystonia, DYT21 type - - - - - - - - Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome - - - - - - - - Methylcobalamin deficiency type cblDv1 - - - - - - - - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - - - - - - - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - - - - - - - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - - - - - - - Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency - - - - - - - - Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency - - - - - - - - Vitamin B12-responsive methylmalonic acidemia, type cblDv2 - - - - - - - - Erythrocyte galactose epimerase deficiency - - - - - - - - Generalized galactose epimerase deficiency - - - - - - - - Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form - - - - - - - - Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form - - - - - - - - Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form - - - - - - - - Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form - - - - - - - - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form - - - - - - - - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form - - - - - - - - Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - - - - - - - - Pancreatic triacylglycerol lipase deficiency - - - - - - - - Pancreatic colipase deficiency - - - - - - - - Combined pancreatic lipase-colipase deficiency - - - - - - - - Sandhoff disease, juvenile form - - - - - - - - Sandhoff disease, adult form - - - - - - - - GM2 gangliosidosis, AB variant - - - - - - - - Alpha-mannosidosis, infantile form - - - - - - - - Alpha-mannosidosis, adult form - - - - - - - - Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome - - - - - - - - Jawad syndrome - - - - - - - - Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome - - - - - - - - Coats plus syndrome - - - - - - - - Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome - - - - - - - - 12p12.1 microdeletion syndrome - - - - - - - - Developmental and speech delay due to SOX5 deficiency - - - - - - - - Gastric adenocarcinoma and proximal polyposis of the stomach - - - - - - - - Chronic infantile diarrhea due to guanylate cyclase 2C overactivity - - - - - - - - Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency - - - - - - - - Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome - - - - - - - - Autosomal dominant aplasia and myelodysplasia - - - - - - - - Young adult-onset distal hereditary motor neuropathy - - - - - - - - Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome - - - - - - - - 15q overgrowth syndrome - - - - - - - - Distal tetrasomy 15q - - - - - - - - Autosomal recessive spastic ataxia with leukoencephalopathy - - - - - - - - CLN11 disease - - - - - - - - ATP13A2-related juvenile neuronal ceroid lipofuscinosis - - - - - - - - Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency - - - - - - - - Non-progressive cerebellar ataxia with intellectual disability - - - - - - - - Combined immunodeficiency due to STK4 deficiency - - - - - - - - Primary systemic amyloidosis - - - - - - - - Lethal arteriopathy syndrome due to fibulin-4 deficiency - - - - - - - - Atypical dentin dysplasia due to SMOC2 deficiency - - - - - - - - SHOX-related short stature - - - - - - - - Short stature due to partial GHR deficiency - - - - - - - - Short stature due to GHSR deficiency - - - - - - - - Severe Canavan disease - - - - - - - - Mild Canavan disease - - - - - - - - X-linked non progressive cerebellar ataxia - - - - - - - - Cataract-congenital heart disease-neural tube defect syndrome - - - - - - - - Severe combined immunodeficiency due to DNA-PKcs deficiency - - - - - - - - Pancytopenia due to IKZF1 mutations - - - - - - - - Congenital myopathy with internal nuclei and atypical cores - - - - - - - - Familial cortical myoclonus - - - - - - - - Autosomal recessive spastic paraplegia type 53 - - - - - - - - MiT family translocation renal cell carcinoma - - - - - - - - Autosomal recessive myogenic arthrogryposis multiplex congenita - - - - - - - - Carney complex-trismus-pseudocamptodactyly syndrome - - - - - - - - Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations - - - - - - - - Inherited acute myeloid leukemia - - - - - - - - Acute myeloid leukemia with CEBPA somatic mutations - - - - - - - - Combined oxidative phosphorylation defect type 8 - - - - - - - - Combined oxidative phosphorylation defect type 9 - - - - - - - - Combined oxidative phosphorylation defect type 13 - - - - - - - - Combined oxidative phosphorylation defect type 14 - - - - - - - - Combined oxidative phosphorylation defect type 15 - - - - - - - - Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency - - - - - - - - Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency - - - - - - - - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - - - - - - - - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - - - - - - - - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - - - - - - - - Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency - - - - - - - - Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency - - - - - - - - X-linked mendelian susceptibility to mycobacterial diseases - - - - - - - - X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency - - - - - - - - Amyloidosis cutis dyschromia - - - - - - - - Retinal macular dystrophy type 2 - - - - - - - - Alazami syndrome - - - - - - - - Microcephalic primordial dwarfism, Dauber type - - - - - - - - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - - - - - - - - Autosomal dominant spastic paraplegia type 41 - - - - - - - - Autosomal dominant spastic paraplegia type 36 - - - - - - - - Autosomal recessive spastic paraplegia type 43 - - - - - - - - Autosomal recessive spastic paraplegia type 55 - - - - - - - - Autosomal recessive spastic paraplegia type 54 - - - - - - - - Autosomal recessive spastic paraplegia type 46 - - - - - - - - Autosomal recessive spastic paraplegia type 45 - - - - - - - - Autosomal recessive spastic paraplegia type 44 - - - - - - - - Spastic paraplegia-optic atrophy-neuropathy syndrome - - - - - - - - Autosomal recessive spastic paraplegia type 56 - - - - - - - - Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - - - - - - - - Early-onset Lafora body disease - - - - - - - - T-cell immunodeficiency with epidermodysplasia verruciformis - - - - - - - - Sinoatrial node dysfunction and deafness - - - - - - - - X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome - - - - - - - - Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation - - - - - - - - Combined oxidative phosphorylation defect type 11 - - - - - - - - Pontocerebellar hypoplasia type 8 - - - - - - - - ABetaL34V amyloidosis - - - - - - - - ABeta amyloidosis, Iowa type - - - - - - - - ABeta amyloidosis, Italian type - - - - - - - - ABetaA21G amyloidosis - - - - - - - - ABeta amyloidosis, Arctic type - - - - - - - - Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis - - - - - - - - Tall stature-long halluces-multiple extra-epiphyses syndrome - - - - - - - - Developmental delay with autism spectrum disorder and gait instability - - - - - - - - Autosomal dominant neovascular inflammatory vitreoretinopathy - - - - - - - - Microcephalic primordial dwarfism due to ZNF335 deficiency - - - - - - - - X-linked central congenital hypothyroidism with late-onset testicular enlargement - - - - - - - - Free sialic acid storage disease, infantile form - - - - - - - - Congenital chronic diarrhea with protein-losing enteropathy - - - - - - - - Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency - - - - - - - - Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome - - - - - - - - Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - - - - - - - - Lipoprotein glomerulopathy - - - - - - - - 5p13 microduplication syndrome - - - - - - - - Immunoglobulin-mediated membranoproliferative glomerulonephritis - - - - - - - - C3 glomerulopathy - - - - - - - - Generalized juvenile polyposis/juvenile polyposis coli - - - - - - - - DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect - - - - - - - - Actinic prurigo - - - - - - - - Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency - - - - - - - - Immunodeficiency due to MASP-2 deficiency - - - - - - - - Immunodeficiency due to ficolin3 deficiency - - - - - - - - Susceptibility to infection due to TYK2 deficiency - - - - - - - - Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome - - - - - - - - Spectrin-associated autosomal recessive cerebellar ataxia - - - - - - - - Progressive external ophthalmoplegia-myopathy-emaciation syndrome - - - - - - - - DNA2-related mitochondrial DNA deletion syndrome - - - - - - - - ISPD-related limb-girdle muscular dystrophy R20 - - - - - - - - Autism spectrum disorder due to AUTS2 deficiency - - - - - - - - Familial infantile myoclonic epilepsy - - - - - - - - Progressive myoclonic epilepsy with dystonia - - - - - - - - Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome - - - - - - - - Hereditary benign intraepithelial dyskeratosis - - - - - - - - Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome - - - - - - - - Cobblestone lissencephaly without muscular or ocular involvement - - - - - - - - CLN13 disease - - - - - - - - Facial dysmorphism-immunodeficiency-livedo-short stature syndrome - - - - - - - - Progressive retinal dystrophy due to retinol transport defect - - - - - - - - Temperature-sensitive oculocutaneous albinism type 1 - - - - - - - - Oculocutaneous albinism type 7 - - - - - - - - Epileptic encephalopathy with global cerebral demyelination - - - - - - - - Familial primary localized cutaneous amyloidosis - - - - - - - - Rubinstein-Taybi syndrome due to CREBBP mutations - - - - - - - - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - - - - - - - Pyruvate carboxylase deficiency, infantile type - - - - - - - - Pyruvate carboxylase deficiency, severe neonatal type - - - - - - - - Pyruvate carboxylase deficiency, benign type - - - - - - - - Congenital myasthenic syndromes with glycosylation defect - - - - - - - - D,L-2-hydroxyglutaric aciduria - - - - - - - - ANK3-related intellectual disability-sleep disturbance syndrome - - - - - - - - 19p13.13 microdeletion syndrome - - - - - - - - Hemolytic uremic syndrome with DGKE deficiency - - - - - - - - Hereditary retinoblastoma - - - - - - - - Non-hereditary retinoblastoma - - - - - - - - Autosomal recessive cutis laxa type 2, classic type - - - - - - - - Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome - - - - - - - - Short ulna-dysmorphism-hypotonia-intellectual disability syndrome - - - - - - - - Severe combined immunodeficiency due to CARD11 deficiency - - - - - - - - Combined immunodeficiency due to IL21R deficiency - - - - - - - - Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome - - - - - - - - Severe neurodegenerative syndrome with lipodystrophy - - - - - - - - Fetal akinesia-cerebral and retinal hemorrhage syndrome - - - - - - - - Hypomyelination with brain stem and spinal cord involvement and leg spasticity - - - - - - - - Multiple mitochondrial dysfunctions syndrome type 3 - - - - - - - - Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome - - - - - - - - Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - - - - - - - - THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome - - - - - - - - Autosomal dominant childhood-onset proximal spinal muscular atrophy - - - - - - - - Testicular teratoma - - - - - - - - Non-seminomatous germ cell tumor of testis - - - - - - - - Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome - - - - - - - - Intellectual disability-strabismus syndrome - - - - - - - - Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - - - - - - - - Leukoencephalopathy with mild cerebellar ataxia and white matter edema - - - - - - - - CTCF-related neurodevelopmental disorder - - - - - - - - X-linked parkinsonism-spasticity syndrome - - - - - - - - Childhood-onset autosomal recessive myopathy with external ophthalmoplegia - - - - - - - - Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome - - - - - - - - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - - - - - - - Craniofaciofrontodigital syndrome - - - - - - - - Alexander disease type I - - - - - - - - Alexander disease type II - - - - - - - - X-linked dyserythropoietic anemia with abnormal platelets and neutropenia - - - - - - - - Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome - - - - - - - - 17q21.31 microdeletion syndrome - - - - - - - - Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - - - - - - - - Charcot-Marie-Tooth disease type 4B3 - - - - - - - - Ichthyosis-short stature-brachydactyly-microspherophakia syndrome - - - - - - - - Non-immune hydrops fetalis - - - - - - - - X-linked intellectual disability due to GRIA3 mutations - - - - - - - - Infantile epileptic-dyskinetic encephalopathy - - - - - - - - Intellectual disability-brachydactyly-Pierre Robin syndrome - - - - - - - - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - - - - - - - Congenital neutropenia-myelofibrosis-nephromegaly syndrome - - - - - - - - Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome - - - - - - - - Autosomal recessive intermediate Charcot-Marie-Tooth disease type C - - - - - - - - Developmental delay-facial dysmorphism syndrome due to MED13L deficiency - - - - - - - - Combined oxidative phosphorylation defect type 17 - - - - - - - - Pontocerebellar hypoplasia type 9 - - - - - - - - Primary hyperaldosteronism-seizures-neurological abnormalities syndrome - - - - - - - - Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome - - - - - - - - Microcornea-myopic chorioretinal atrophy-telecanthus syndrome - - - - - - - - Severe dermatitis-multiple allergies-metabolic wasting syndrome - - - - - - - - Diffuse palmoplantar keratoderma with painful fissures - - - - - - - - Focal palmoplantar keratoderma with joint keratoses - - - - - - - - Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome - - - - - - - - Oculocutaneous albinism type 5 - - - - - - - - Oculocutaneous albinism type 6 - - - - - - - - Macrophagic myofasciitis - - - - - - - - Extraskeletal Ewing sarcoma - - - - - - - - Peripheral primitive neuroectodermal tumor - - - - - - - - STT3A-CDG - - - - - - - - STT3B-CDG - - - - - - - - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - - - - - - - Congenital muscular dystrophy with cerebellar involvement - - - - - - - - Congenital muscular dystrophy with intellectual disability - - - - - - - - Congenital muscular dystrophy without intellectual disability - - - - - - - - Muscle-eye-brain disease with bilateral multicystic leucodystrophy - - - - - - - - Hypotonia-speech impairment-severe cognitive delay syndrome - - - - - - - - Multicentric osteolysis-nodulosis-arthropathy spectrum - - - - - - - - Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome - - - - - - - - Susceptibility to viral and mycobacterial infections due to STAT1 deficiency - - - - - - - - East Texas bleeding disorder - - - - - - - - X-linked osteoporosis with fractures - - - - - - - - Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome - - - - - - - - SURF1-related Charcot-Marie-Tooth disease type 4 - - - - - - - - Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome - - - - - - - - Familial episodic pain syndrome with predominantly upper body involvement - - - - - - - - Familial episodic pain syndrome with predominantly lower limb involvement - - - - - - - - Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome - - - - - - - - Atypical juvenile parkinsonism - - - - - - - - HSD10 disease, infantile type - - - - - - - - HSD10 disease, neonatal type - - - - - - - - Feingold syndrome type 1 - - - - - - - - Feingold syndrome type 2 - - - - - - - - Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type - - - - - - - - Multiple acyl-CoA dehydrogenase deficiency, mild type - - - - - - - - Silver-Russell syndrome due to a point mutation - - - - - - - - Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency - - - - - - - - Macrocephaly-developmental delay syndrome - - - - - - - - Obesity due to CEP19 deficiency - - - - - - - - Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome - - - - - - - - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - - - - - - - - Familial hyperprolactinemia - - - - - - - - Hereditary isolated aplastic anemia - - - - - - - - Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome - - - - - - - - Joubert syndrome with Jeune asphyxiating thoracic dystrophy - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2U - - - - - - - - Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome - - - - - - - - Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies - - - - - - - - Severe combined immunodeficiency due to IKK2 deficiency - - - - - - - - Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome - - - - - - - - Polyglucosan body myopathy type 1 - - - - - - - - Autosomal spastic paraplegia type 58 - - - - - - - - Microcephaly-thin corpus callosum-intellectual disability syndrome - - - - - - - - TCR-alpha-beta-positive T-cell deficiency - - - - - - - - Combined immunodeficiency due to MALT1 deficiency - - - - - - - - Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome - - - - - - - - Focal facial dermal dysplasia type II - - - - - - - - Focal facial dermal dysplasia type IV - - - - - - - - Alpha-B crystallin-related late-onset myopathy - - - - - - - - Finnish upper limb-onset distal myopathy - - - - - - - - Distal anoctaminopathy - - - - - - - - Male infertility with teratozoospermia due to single gene mutation - - - - - - - - Pancytopenia-developmental delay syndrome - - - - - - - - Autosomal recessive spastic paraplegia type 61 - - - - - - - - Autosomal recessive spastic paraplegia type 62 - - - - - - - - Autosomal recessive spastic paraplegia type 63 - - - - - - - - Autosomal recessive spastic paraplegia type 64 - - - - - - - - Autosomal spastic paraplegia type 72 - - - - - - - - Multiple mitochondrial dysfunctions syndrome type 1 - - - - - - - - Multiple mitochondrial dysfunctions syndrome type 2 - - - - - - - - Familial median cleft of the upper and lower lips - - - - - - - - Moyamoya disease with early-onset achalasia - - - - - - - - Episodic ataxia with slurred speech - - - - - - - - MEND syndrome - - - - - - - - Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type - - - - - - - - 1p31p32 microdeletion syndrome - - - - - - - - Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering - - - - - - - - Familial bicuspid aortic valve - - - - - - - - Progressive myoclonic epilepsy type 5 - - - - - - - - Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome - - - - - - - - Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency - - - - - - - - Tatton-Brown-Rahman syndrome - - - - - - - - Female infertility due to zona pellucida defect - - - - - - - - Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome - - - - - - - - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency - - - - - - - - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency - - - - - - - - DITRA - - - - - - - - Pontocerebellar hypoplasia type 10 - - - - - - - - Mild phosphoribosylpyrophosphate synthetase superactivity - - - - - - - - Severe phosphoribosylpyrophosphate synthetase superactivity - - - - - - - - Wolfram-like syndrome - - - - - - - - Hereditary late-onset Parkinson disease - - - - - - - - Juvenile nephropathic cystinosis - - - - - - - - Maternal riboflavin deficiency - - - - - - - - Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome - - - - - - - - Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome - - - - - - - - Autosomal recessive cerebellar ataxia due to STUB1 deficiency - - - - - - - - Epidermolysis bullosa simplex due to BP230 deficiency - - - - - - - - Epidermolysis bullosa simplex due to exophilin 5 deficiency - - - - - - - - Primary failure of tooth eruption - - - - - - - - Cranio-cervical dystonia with laryngeal and upper-limb involvement - - - - - - - - Adult-onset cervical dystonia, DYT23 type - - - - - - - - Bleeding disorder due to CalDAG-GEFI deficiency - - - - - - - - Severe combined immunodeficiency due to CTPS1 deficiency - - - - - - - - Woolly hair-palmoplantar keratoderma syndrome - - - - - - - - Autosomal recessive severe congenital neutropenia due to CSF3R deficiency - - - - - - - - Combined oxidative phosphorylation defect type 20 - - - - - - - - Macrosomia-microphthalmia-cleft palate syndrome - - - - - - - - Combined oxidative phosphorylation defect type 21 - - - - - - - - RIDDLE syndrome - - - - - - - - Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency - - - - - - - - Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome - - - - - - - - Mucolipidosis type III alpha/beta - - - - - - - - Mucolipidosis type III gamma - - - - - - - - Progressive myoclonic epilepsy type 8 - - - - - - - - Colobomatous microphthalmia-rhizomelic dysplasia syndrome - - - - - - - - TOR1AIP1-related limb-girdle muscular dystrophy - - - - - - - - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome - - - - - - - - Combined immunodeficiency due to OX40 deficiency - - - - - - - - Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection - - - - - - - - Autosomal recessive spastic paraplegia type 57 - - - - - - - - Familial ossifying fibroma - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2Y - - - - - - - - Progressive myoclonic epilepsy type 7 - - - - - - - - Keppen-Lubinsky syndrome - - - - - - - - Short stature-advanced bone age-early-onset osteoarthritis syndrome - - - - - - - - Lethal neonatal spasticity-epileptic encephalopathy syndrome - - - - - - - - Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome - - - - - - - - COG2-CDG - - - - - - - - X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome - - - - - - - - Progeroid features-hepatocellular carcinoma predisposition syndrome - - - - - - - - Autosomal recessive intermediate Charcot-Marie-Tooth disease type D - - - - - - - - Intellectual disability-expressive aphasia-facial dysmorphism syndrome - - - - - - - - Periodic fever-infantile enterocolitis-autoinflammatory syndrome - - - - - - - - Thrombomodulin-related bleeding disorder - - - - - - - - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - - - - - - - Microcephalic primordial dwarfism-insulin resistance syndrome - - - - - - - - Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease - - - - - - - - Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome - - - - - - - - Combined immunodeficiency-enteropathy spectrum - - - - - - - - Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity - - - - - - - - Ketoacidosis due to monocarboxylate transporter-1 deficiency - - - - - - - - RARS-related autosomal recessive hypomyelinating leukodystrophy - - - - - - - - Steel syndrome - - - - - - - - PCNA-related progressive neurodegenerative photosensitivity syndrome - - - - - - - - STAT3-related early-onset multisystem autoimmune disease - - - - - - - - Severe autosomal recessive macrothrombocytopenia - - - - - - - - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome - - - - - - - - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation - - - - - - - - ITM2B amyloidosis - - - - - - - - PDE4D haploinsufficiency syndrome - - - - - - - - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - - - - - - - Interstitial lung disease due to SP-C deficiency - - - - - - - - Interstitial lung disease due to ABCA3 deficiency - - - - - - - - Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency - - - - - - - - Ribose-5-P isomerase deficiency - - - - - - - - L-ferritin deficiency - - - - - - - - Sporadic porphyria cutanea tarda - - - - - - - - Familial porphyria cutanea tarda - - - - - - - - Charcot-Marie-Tooth disease type 2S - - - - - - - - 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency - - - - - - - - Hyperostosis cranialis interna - - - - - - - - Classic stiff person syndrome - - - - - - - - X-linked erythropoietic protoporphyria - - - - - - - - Focal stiff limb syndrome - - - - - - - - Ventriculomegaly-cystic kidney disease - - - - - - - - Mandibulofacial dysostosis with alopecia - - - - - - - - Combined oxidative phosphorylation defect type 23 - - - - - - - - 46,XX ovarian dysgenesis-short stature syndrome - - - - - - - - Cerebellar-facial-dental syndrome - - - - - - - - Autoimmune interstitial lung disease-arthritis syndrome - - - - - - - - Autosomal dominant spastic paraplegia type 73 - - - - - - - - Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome - - - - - - - - Combined oxidative phosphorylation defect type 24 - - - - - - - - Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome - - - - - - - - 3-methylglutaconic aciduria type 7 - - - - - - - - Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome - - - - - - - - Limb-girdle muscular dystrophy due to POMK deficiency - - - - - - - - Autosomal recessive spastic paraplegia type 9B - - - - - - - - Mitochondrial pyruvate carrier deficiency - - - - - - - - Polymerase proofreading-related adenomatous polyposis - - - - - - - - Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome - - - - - - - - Tremor-ataxia-central hypomyelination syndrome - - - - - - - - Combined oxidative phosphorylation defect type 25 - - - - - - - - Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2V - - - - - - - - Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome - - - - - - - - Progressive scapulohumeroperoneal distal myopathy - - - - - - - - Progressive autosomal recessive ataxia-deafness syndrome - - - - - - - - Isolated focal non-epidermolytic palmoplantar keratoderma - - - - - - - - Regressive spondylometaphyseal dysplasia - - - - - - - - Symptomatic form of fragile X syndrome in female carriers - - - - - - - - Familial congenital nasolacrimal duct obstruction - - - - - - - - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome - - - - - - - - Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency - - - - - - - - Polyendocrine-polyneuropathy syndrome - - - - - - - - Acquired Creutzfeldt-Jakob disease - - - - - - - - Pleomorphic salivary gland adenoma - - - - - - - - NTHL1-related attenuated familial adenomatous polyposis - - - - - - - - Infantile multisystem neurologic-endocrine-pancreatic disease - - - - - - - - X-linked myotubular myopathy-abnormal genitalia syndrome - - - - - - - - Polyglucosan body myopathy type 2 - - - - - - - - Autosomal dominant mitochondrial myopathy with exercise intolerance - - - - - - - - Predisposition to invasive fungal disease due to CARD9 deficiency - - - - - - - - Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - - - - - - - - Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome - - - - - - - - Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome - - - - - - - - Syndromic sensorineural deafness due to combined oxidative phosphorylation defect - - - - - - - - MOMO syndrome - - - - - - - - X-linked intellectual disability-short stature-overweight syndrome - - - - - - - - Progressive myoclonic epilepsy type 9 - - - - - - - - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome - - - - - - - - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome - - - - - - - - Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome - - - - - - - - Megalencephaly-severe kyphoscoliosis-overgrowth syndrome - - - - - - - - ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement - - - - - - - - Complex lethal osteochondrodysplasia - - - - - - - - Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome - - - - - - - - Multiple mitochondrial dysfunctions syndrome type 4 - - - - - - - - Spinocerebellar ataxia type 41 - - - - - - - - Spinocerebellar ataxia type 42 - - - - - - - - Spondyloepiphyseal dysplasia, Stanescu type - - - - - - - - Autosomal recessive spastic paraplegia type 75 - - - - - - - - Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome - - - - - - - - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome - - - - - - - - Spastic paraplegia-severe developmental delay-epilepsy syndrome - - - - - - - - Short stature-brachydactyly-obesity-global developmental delay syndrome - - - - - - - - NEK9-related lethal skeletal dysplasia - - - - - - - - Primary dystonia, DYT27 type - - - - - - - - Fever-associated acute infantile liver failure syndrome - - - - - - - - Basel-Vanagaite-Smirin-Yosef syndrome - - - - - - - - Familial cavitary optic disc anomaly - - - - - - - - Fetal encasement syndrome - - - - - - - - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome - - - - - - - - TMEM199-CDG - - - - - - - - Martinique crinkled retinal pigment epitheliopathy - - - - - - - - Autosomal recessive spastic paraplegia type 77 - - - - - - - - Familial patent arterial duct - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2Z - - - - - - - - Autosomal recessive Charcot-Marie-Tooth disease type 2X - - - - - - - - Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect - - - - - - - - Macrocephaly-intellectual disability-left ventricular non compaction syndrome - - - - - - - - Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome - - - - - - - - LIMS2-related limb-girdle muscular dystrophy - - - - - - - - Autosomal dominant thrombocytopenia with platelet secretion defect - - - - - - - - Seizures-scoliosis-macrocephaly syndrome - - - - - - - - VPS11-related autosomal recessive hypomyelinating leukodystrophy - - - - - - - - WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome - - - - - - - - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation - - - - - - - - Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome - - - - - - - - Microcephalic cortical malformations-short stature due to RTTN deficiency - - - - - - - - Autosomal recessive spastic paraplegia type 74 - - - - - - - - Isolated generalized anhidrosis with normal sweat glands - - - - - - - - Colobomatous macrophthalmia-microcornea syndrome - - - - - - - - CCDC115-CDG - - - - - - - - SLC39A8-CDG - - - - - - - - BVES-related limb-girdle muscular dystrophy - - - - - - - - Hereditary pediatric Behçet-like disease - - - - - - - - Combined immunodeficiency due to TFRC deficiency - - - - - - - - Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome - - - - - - - - PMP2-related Charcot-Marie-Tooth disease type 1 - - - - - - - - IL21-related infantile inflammatory bowel disease - - - - - - - - Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome - - - - - - - - Combined oxidative phosphorylation defect type 26 - - - - - - - - Pontine autosomal dominant microangiopathy with leukoencephalopathy - - - - - - - - Combined oxidative phosphorylation defect type 27 - - - - - - - - Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder - - - - - - - - Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome - - - - - - - - PMP22-RAI1 contiguous gene duplication syndrome - - - - - - - - Kosaki overgrowth syndrome - - - - - - - - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency - - - - - - - - Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome - - - - - - - - Combined oxidative phosphorylation defect type 29 - - - - - - - - Combined oxidative phosphorylation defect type 30 - - - - - - - - Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome - - - - - - - - Hereditary sensory and autonomic neuropathy type 8 - - - - - - - - Progressive familial intrahepatic cholestasis type 5 - - - - - - - - MSH3-related attenuated familial adenomatous polyposis - - - - - - - - POGLUT1-related limb-girdle muscular dystrophy R21 - - - - - - - - Hereditary thrombocytopenia with early-onset myelofibrosis - - - - - - - - Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - - - - - - - - X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome - - - - - - - - PYCR2-related microcephaly-progressive leukoencephalopathy - - - - - - - - Familial Chilblain lupus - - - - - - - - USP18 deficiency - - - - - - - - Familial schizencephaly - - - - - - - - HTRA1-related autosomal dominant cerebral small vessel disease - - - - - - - - Adenylosuccinate synthetase-like 1-related distal myopathy - - - - - - - - Acquired schizencephaly - - - - - - - - CLCN4-related X-linked intellectual disability syndrome - - - - - - - - MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect - - - - - - - - Prenatal-onset spinal muscular atrophy with congenital bone fractures - - - - - - - - Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome - - - - - - - - Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome - - - - - - - - Pierpont syndrome - - - - - - - - Microcephaly-congenital cataract-psoriasiform dermatitis syndrome - - - - - - - - Female infertility due to oocyte meiotic arrest - - - - - - - - Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - - - - - - - - Split-foot malformation-mesoaxial polydactyly syndrome - - - - - - - - 14q32 duplication syndrome - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2W - - - - - - - - Autosomal recessive spastic paraplegia type 76 - - - - - - - - Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome - - - - - - - - Transketolase deficiency - - - - - - - - Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome - - - - - - - - TBCK-related intellectual disability syndrome - - - - - - - - Early-onset epilepsy-intellectual disability-brain anomalies syndrome - - - - - - - - TELO2-related intellectual disability-neurodevelopmental disorder - - - - - - - - DDX41-related hematologic malignancy predisposition syndrome - - - - - - - - Distal myopathy, Tateyama type - - - - - - - - Vibratory angioedema - - - - - - - - RERE-related neurodevelopmental syndrome - - - - - - - - Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome - - - - - - - - DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome - - - - - - - - Infantile-onset generalized dyskinesia with orofacial involvement - - - - - - - - Childhood-onset benign chorea with striatal involvement - - - - - - - - Squamous cell carcinoma of the hypopharynx - - - - - - - - Squamous cell carcinoma of the larynx - - - - - - - - Charcot-Marie-Tooth disease type 2T - - - - - - - - C11ORF73-related autosomal recessive hypomyelinating leukodystrophy - - - - - - - - Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome - - - - - - - - Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome - - - - - - - - EVEN-plus syndrome - - - - - - - - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - - - - - - - Ocular anomalies-axonal neuropathy-developmental delay syndrome - - - - - - - - MME-related autosomal dominant Charcot Marie Tooth disease type 2 - - - - - - - - Spinocerebellar ataxia type 43 - - - - - - - - Childhood-onset basal ganglia degeneration syndrome - - - - - - - - Short rib-polydactyly syndrome type 5 - - - - - - - - 16p13.2 microdeletion syndrome - - - - - - - - Tall stature-intellectual disability-renal anomalies syndrome - - - - - - - - Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome - - - - - - - - Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome - - - - - - - - Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom - - - - - - - - SIN3A-related intellectual disability syndrome due to a point mutation - - - - - - - - X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome - - - - - - - - Squamous cell carcinoma of the nasal cavity and paranasal sinuses - - - - - - - - Squamous cell carcinoma of the oropharynx - - - - - - - - Squamous cell carcinoma of salivary glands - - - - - - - - Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract - - - - - - - - Osteosclerotic metaphyseal dysplasia - - - - - - - - Squamous cell carcinoma of the oral cavity - - - - - - - - Squamous cell carcinoma of the lip - - - - - - - - Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome - - - - - - - - STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome - - - - - - - - Alkaline ceramidase 3 deficiency - - - - - - - - Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome - - - - - - - - Severe combined immunodeficiency due to LAT deficiency - - - - - - - - Combined immunodeficiency due to Moesin deficiency - - - - - - - - 3-methylglutaconic aciduria type 9 - - - - - - - - Combined immunodeficiency due to GINS1 deficiency - - - - - - - - Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome - - - - - - - - Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome - - - - - - - - Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders - - - - - - - - Stromme syndrome - - - - - - - - Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction - - - - - - - - Gabriele-de Vries syndrome - - - - - - - - Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome - - - - - - - - Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome - - - - - - - - Hyperphenylalaninemia due to DNAJC12 deficiency - - - - - - - - Intermediate epidermolysis bullosa simplex with cardiomyopathy - - - - - - - - Autosomal recessive spastic paraplegia type 78 - - - - - - - - Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome - - - - - - - - Autosomal recessive anterior segment dysgenesis - - - - - - - - Xq25 microduplication syndrome - - - - - - - - Proximal myopathy with focal depletion of mitochondria - - - - - - - - Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome - - - - - - - - Dystonia-parkinsonism-hypermanganesemia syndrome - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2DD - - - - - - - - PLAA-associated neurodevelopmental disorder - - - - - - - - Congenital vertebral-cardiac-renal anomalies syndrome - - - - - - - - Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome - - - - - - - - Severe myopia-generalized joint laxity-short stature syndrome - - - - - - - - NKX6-2-related autosomal recessive hypomyelinating leukodystrophy - - - - - - - - Non-specific syndromic intellectual disability - - - - - - - - Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome - - - - - - - - Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome - - - - - - - - Duane retraction syndrome with congenital deafness - - - - - - - - Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome - - - - - - - - Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome - - - - - - - - Male infertility due to acephalic spermatozoa - - - - - - - - Mixed phenotype acute leukemia - - - - - - - - Familial GPIHBP1 deficiency - - - - - - - - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - - - - - - - Classical-like Ehlers-Danlos syndrome type 2 - - - - - - - - Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy - - - - - - - - Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome - - - - - - - - Combined immunodeficiency due to CD70 deficiency - - - - - - - - Combined immunodeficiency due to ITK deficiency - - - - - - - - Growth delay-intellectual disability-hepatopathy syndrome - - - - - - - - Combined immunodeficiency due to CARMIL2 deficiency - - - - - - - - GNB5-related intellectual disability-cardiac arrhythmia syndrome - - - - - - - - Auditory neuropathy-optic atrophy syndrome - - - - - - - - Isolated hyperchlorhidrosis - - - - - - - - PRUNE1-related neurological syndrome - - - - - - - - Atypical hemolytic uremic syndrome with complement gene abnormality - - - - - - - - Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome - - - - - - - - RNF13-related severe early-onset epileptic encephalopathy - - - - - - - - Congenital myopathy with reduced type 2 muscle fibers - - - - - - - - NAD(P)HX dehydratase deficiency - - - - - - - - NAD(P)HX epimerase deficiency - - - - - - - - Pancreatic agenesis-holoprosencephaly syndrome - - - - - - - - Oculocerebrodental syndrome - - - - - - - - Neonatal epileptic encephalopathy due to glutaminase deficiency - - - - - - - - Heme oxygenase-1 deficiency - - - - - - - - Autosomal recessive extra-oral halitosis - - - - - - - - Anterior maxillary protrusion-strabismus-intellectual disability syndrome - - - - - - - - TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome - - - - - - - - Combined oxidative phosphorylation defect type 39 - - - - - - - - MYH9-related disease - - - - - - - - Infantile inflammatory bowel disease with neurological involvement - - - - - - - - Craniosynostosis-microretrognathia-severe intellectual disability syndrome - - - - - - - - Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta - - - - - - - - Idiopathic steroid-resistant nephrotic syndrome - - - - - - - - Multiple mitochondrial dysfunctions syndrome type 6 - - - - - - - - Galactose mutarotase deficiency - - - - - - - - QRSL1-related combined oxidative phosphorylation defect - - - - - - - - Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome - - - - - - - - Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 - - - - - - - - Brachydactyly type B1 - - - - - - - - RFVT2-related riboflavin transporter deficiency - - - - - - - - Microcephaly-micromelia syndrome - - - - - - - - WARS2-related combined oxidative phosphorylation defect - - - - - - - - SATB2-associated syndrome due to a pathogenic variant - - - - - - - - NLRC4-related familial cold autoinflammatory syndrome - - - - - - - - QRICH1-related intellectual disability-chondrodysplasia syndrome - - - - - - - - Spondylometaphyseal dysplasia-corneal dystrophy syndrome - - - - - - - - Oculocutaneous albinism type 8 - - - - - - - - MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome - - - - - - - - Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome - - - - - - - - Demodicidosis - - - - - - - - Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome - - - - - - - - Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome - - - - - - - - KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome - - - - - - - - CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome - - - - - - - - Oculogastrointestinal-neurodevelopmental syndrome - - - - - - - - Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome - - - - - - - - Aplastic anemia-intellectual disability-dwarfism syndrome - - - - - - - - EN1-related dorsoventral syndrome - - - - - - - - Parkinsonism with polyneuropathy - - - - - - - - Pontocerebellar hypoplasia type 11 - - - - - - - - Pontocerebellar hypoplasia type 12 - - - - - - - - Pontocerebellar hypoplasia type 13 - - - - - - - - Pontocerebellar hypoplasia type 14 - - - - - - - - Spastic paraparesis-cataracts-speech delay syndrome - - - - - - - - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome - - - - - - - - Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate - - - - - - - - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation - - - - - - - - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster - - - - - - - - - Lipodystrophy, familial partial, type 7 - - - - - - - - - Ovarian dysgenesis 1 - - - - - - - - Dent disease type 1 - - - - - - - - - Ovarian dysgenesis 2 - - - - - - - - - Ovarian dysgenesis 3 - - - - - - - - - Ovarian dysgenesis 6 - - - - - - - - - Ovarian dysgenesis 7 - - - - - - - - - Premature ovarian failure 16 - - - - - - - - - - Craniosynostosis 1 - - - - - - - - - Craniosynostosis 5, susceptibility to - - - - - - - - - Craniosynostosis 3 - - - - - - - - - Craniosynostosis 6 - - - - - - - - - Cornea plana 1, autosomal dominant - - - - - - - - - Cornea plana 2, autosomal recessive - - - - - - - - - Parietal foramina 1 - - - - - - - - - Parietal foramina 3 - - - - - - - - - Parietal foramina 2 - - - - - - - - - Bronchiectasis with or without elevated sweat chloride 1 - - - - - - - - - Bronchiectasis with or without elevated sweat chloride 2 - - - - - - - - - Bronchiectasis with or without elevated sweat chloride 3 - - - - - - - - - Epilepsy, childhood absence, susceptibility to, 1 - - - - - - - - - Febrile seizures, familial, 8 - - - - - - - - - Epilepsy, idiopathic generalized, susceptibility to, 13 - - - - - - - - Dentin dysplasia type II - - - - - - - - - Epilepsy, childhood absence, susceptibility to, 6 - - - - - - - - - Epilepsy, childhood absence, susceptibility to, 5 - - - - - - - - - Ectodermal dysplasia 4, hair/nail type - - - - - - - - - Ectodermal dysplasia 5, hair/nail type - - - - - - - - - Ectodermal dysplasia 6, hair/nail type - - - - - - - - - Ectodermal dysplasia 7, hair/nail type - - - - - - - - - Ectodermal dysplasia 9, hair/nail type - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 32 - - - - - - - - - Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 - - - - - - - - - Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 - - - - - - - - Dentin dysplasia type I - - - - - - - - - Cardiomyopathy, familial restrictive, 1 - - - - - - - - - Cardiomyopathy, familial restrictive, 2 - - - - - - - - - Cardiomyopathy, familial restrictive, 3 - - - - - - - - - Hyperpigmentation with or without hypopigmentation, familial progressive - - - - - - - - - Hyperpigmentation, familial progressive, 1 - - - - - - - - - Hyperalphalipoproteinemia 1 - - - - - - - - - Apolipoprotein c-iii deficiency - - - - - - - - - Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 - - - - - - - - - Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 - - - - - - - - - Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 - - - - - - - - Dentin dysplasia-sclerotic bones syndrome - - - - - - - - - Nephronophthisis 11 - - - - - - - - - Nephronophthisis 19 - - - - - - - - - Epilepsy, familial adult myoclonic, 1 - - - - - - - - - Epilepsy, familial adult myoclonic, 2 - - - - - - - - - Epilepsy, familial adult myoclonic, 3 - - - - - - - - - Epilepsy, familial adult myoclonic, 4 - - - - - - - - - Epilepsy, familial adult myoclonic, 5 - - - - - - - - - Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism - - - - - - - - - Leukodystrophy, hypomyelinating, 11 - - - - - - - - - Hemolytic anemia due to glutathione reductase deficiency - - - - - - - - - Hydrocephalus, congenital communicating, 1 - - - - - - - - - Neuropathy, hereditary motor and sensory, type via, with optic atrophy - - - - - - - - - Neuropathy, hereditary motor and sensory, type vib, with optic atrophy - - - - - - - - - Hypotrichosis 2 - - - - - - - - - Hypotrichosis 3 - - - - - - - - - Deafness, x-linked 3 - - - - - - - - - Deafness, x-linked 4 - - - - - - - - - Deafness, x-linked 6 - - - - - - - - - Deafness, x-linked 1 - - - - - - - - - Deafness, autosomal dominant 2a - - - - - - - - Stargardt disease - - - - - - - - Radioulnar synostosis-developmental delay-hypotonia syndrome - - - - - - - - - Deafness, autosomal dominant 4a - - - - - - - - - Deafness, autosomal dominant 6 - - - - - - - - - Deafness, autosomal dominant 5 - - - - - - - - - Deafness, autosomal dominant 10 - - - - - - - - - Deafness, autosomal dominant 11 - - - - - - - - - Deafness, autosomal dominant 9 - - - - - - - - - Deafness, autosomal dominant 7 - - - - - - - - - Deafness, autosomal dominant 12 - - - - - - - - - Deafness, autosomal dominant 13 - - - - - - - - - Deafness, autosomal dominant 15 - - - - - - - - - Deafness, autosomal dominant 16 - - - - - - - - - Deafness, autosomal dominant 20 - - - - - - - - - Deafness, autosomal dominant 25 - - - - - - - - - Deafness, autosomal dominant 18 - - - - - - - - - Deafness, autosomal dominant 30 - - - - - - - - - Deafness, autosomal dominant 36 - - - - - - - - - Deafness, autosomal dominant 21 - - - - - - - - - Deafness, autosomal recessive - - - - - - - - - Deafness, autosomal dominant 44 - - - - - - - - - Deafness, autosomal dominant 52 - - - - - - - - - Deafness, autosomal dominant 48 - - - - - - - - - Deafness, autosomal dominant 41 - - - - - - - - - Deafness, autosomal dominant 49 - - - - - - - - - Deafness, autosomal dominant 43 - - - - - - - - - Deafness, autosomal dominant 28 - - - - - - - - - Deafness, autosomal dominant 31 - - - - - - - - - Deafness, autosomal dominant 47 - - - - - - - - - Auditory neuropathy, autosomal dominant 1 - - - - - - - - - Deafness, autosomal dominant 27 - - - - - - - - - Deafness, autosomal dominant 59 - - - - - - - - Dermatoleukodystrophy - - - - - - - - - Deafness, autosomal dominant 3b - - - - - - - - - Deafness, autosomal dominant 2b - - - - - - - - - Deafness, autosomal dominant 50 - - - - - - - - - Deafness, autosomal dominant 51 - - - - - - - - - Deafness, autosomal dominant 64 - - - - - - - - - Deafness, autosomal dominant 33 - - - - - - - - - Deafness, autosomal dominant 4b - - - - - - - - - Deafness, autosomal dominant 56 - - - - - - - - - Deafness, autosomal dominant 54 - - - - - - - - - Deafness, autosomal dominant 58 - - - - - - - - Dermatoosteolysis, Kirghizian type - - - - - - - - - Deafness, autosomal dominant 65 - - - - - - - - - Deafness, autosomal dominant 67 - - - - - - - - - Deafness, autosomal dominant 40 - - - - - - - - - Deafness, autosomal dominant 69 - - - - - - - - - Deafness, autosomal dominant 68 - - - - - - - - - Deafness, autosomal dominant 70 - - - - - - - - - Deafness, autosomal dominant 66 - - - - - - - - - Deafness, autosomal dominant 71 - - - - - - - - - Deafness, autosomal dominant 72 - - - - - - - - - Deafness, autosomal dominant 73 - - - - - - - - Dermochondrocorneal dystrophy - - - - - - - - - Deafness, autosomal recessive 110 - - - - - - - - - Deafness, autosomal dominant 74 - - - - - - - - - - Deafness, autosomal recessive 113 - - - - - - - - - Deafness, autosomal dominant 75 - - - - - - - - - Deafness, autosomal dominant 76 - - - - - - - - - Deafness, autosomal dominant 77 - - - - - - - - - Deafness, autosomal dominant 78 - - - - - - - - - Deafness, autosomal dominant 79 - - - - - - - - - Deafness, autosomal dominant 80 - - - - - - - - - Deafness, sensorineural, autosomal-mitochondrial type - - - - - - - - Dermoodontodysplasia - - - - - - - - - Deafness, nonsyndromic sensorineural, mitochondrial - - - - - - - - - Deafness, aminoglycoside-induced - - - - - - - - - Ptosis, hereditary congenital 1 - - - - - - - - - Ptosis, hereditary congenital 2 - - - - - - - - - Fibrosis of extraocular muscles, congenital, 5 - - - - - - - - - Alacrima, congenital, autosomal dominant - - - - - - - - - Alacrima, congenital, autosomal recessive - - - - - - - - - Persistent hyperplastic primary vitreous, autosomal recessive - - - - - - - - - Persistent hyperplastic primary vitreous, autosomal dominant - - - - - - - - - Vitamin d-dependent rickets, type 2a - - - - - - - - - Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor - - - - - - - - - Vitamin d-dependent rickets, type 3 - - - - - - - - - Polydactyly, postaxial, type a5 - - - - - - - - - Polydactyly, postaxial, type a2 - - - - - - - - - Polydactyly, postaxial, type a3 - - - - - - - - - Polydactyly, postaxial, type a4 - - - - - - - - - Polydactyly, postaxial, type a6 - - - - - - - - - Polydactyly, postaxial, type a9 - - - - - - - - - Polydactyly, postaxial, type a10 - - - - - - - - - Nephronophthisis 3 - - - - - - - - Desbuquois syndrome - - - - - - - - - Nephronophthisis-like nephropathy 1 - - - - - - - - - Nephronophthisis 20 - - - - - - - - - Nephronophthisis 2 - - - - - - - - - - Nephronophthisis 16 - - - - - - - - - Hypospadias 3, autosomal - - - - - - - - - Hypospadias 1, x-linked - - - - - - - - - Hypospadias 2, x-linked - - - - - - - - - Hypospadias 4, x-linked, susceptibility to - - - - - - - - - Thyroid dyshormonogenesis 1 - - - - - - - - - Thyroid dyshormonogenesis 2a - - - - - - - - - Thyroid dyshormonogenesis 3 - - - - - - - - - Thyroid dyshormonogenesis 4 - - - - - - - - - Thyroid dyshormonogenesis 5 - - - - - - - - - Thyroid dyshormonogenesis 6 - - - - - - - - - Immunodeficiency 75 - - - - - - - - - Vitamin k-dependent clotting factors, combined deficiency of, 1 - - - - - - - - - Vitamin k-dependent clotting factors, combined deficiency of, 2 - - - - - - - - - Myopia, high, with cataract and vitreoretinal degeneration - - - - - - - - - Myopia 23, autosomal recessive - - - - - - - - - Optic atrophy 9 - - - - - - - - Best vitelliform macular dystrophy - - - - - - - - Desmoid tumor - - - - - - - - - Optic atrophy 10 with or without ataxia, mental retardation, and seizures - - - - - - - - - Optic atrophy 11 - - - - - - - - - Epilepsy, familial focal, with variable foci 1 - - - - - - - - - Epilepsy, familial focal, with variable foci 2 - - - - - - - - - Epilepsy, familial focal, with variable foci 3 - - - - - - - - - Interstitial pneumonitis, desquamative, familial - - - - - - - - - Emery-dreifuss muscular dystrophy 4, autosomal dominant - - - - - - - - - Emery-dreifuss muscular dystrophy 5, autosomal dominant - - - - - - - - - Emery-dreifuss muscular dystrophy 7, autosomal dominant - - - - - - - - - Emery-dreifuss muscular dystrophy 3, autosomal recessive - - - - - - - - - Myasthenic syndrome, congenital, 5 - - - - - - - - - Guillain-barre syndrome, familial - - - - - - - - - Corneal dystrophy, posterior polymorphous, 1 - - - - - - - - - Corneal dystrophy, posterior polymorphous, 2 - - - - - - - - - Corneal dystrophy, posterior polymorphous, 3 - - - - - - - - - Corneal dystrophy, posterior polymorphous, 4 - - - - - - - - - Corneal dystrophy, fuchs endothelial, 1 - - - - - - - - - Corneal dystrophy, fuchs endothelial, 2 - - - - - - - - - Corneal dystrophy, fuchs endothelial, 3 - - - - - - - - - Corneal dystrophy, fuchs endothelial, 4 - - - - - - - - - Corneal dystrophy, fuchs endothelial, 5 - - - - - - - - - Corneal dystrophy, fuchs endothelial, 6 - - - - - - - - - Corneal dystrophy, fuchs endothelial, 7 - - - - - - - - - Corneal dystrophy, fuchs endothelial, 8 - - - - - - - - - - Glaucoma 3, primary congenital, a - - - - - - - - - Glaucoma 3, primary congenital, c - - - - - - - - - Glaucoma 3, primary congenital, d - - - - - - - - - Glaucoma 3, primary congenital, e - - - - - - - - - Glaucoma 1, open angle, j - - - - - - - - - Glaucoma 1, open angle, k - - - - - - - - Familial developmental dysphasia - - - - - - - - - Glaucoma 1, open angle, m - - - - - - - - - Glaucoma 1, open angle, n - - - - - - - - - Cataract 25 - - - - - - - - - Cataract 29 - - - - - - - - - Cataract 41 - - - - - - - - - Cataract 27 - - - - - - - - - Cataract 33, multiple types - - - - - - - - - Macular dystrophy, patterned, 1 - - - - - - - - - Macular dystrophy, patterned, 2 - - - - - - - - - Reticular dystrophy of retinal pigment epithelium - - - - - - - - - Retinal dystrophy, reticular pigmentary, of posterior pole - - - - - - - - - Retinal dystrophy with or without extraocular anomalies - - - - - - - - - Subaortic stenosis, membranous - - - - - - - - - Cleft soft palate - - - - - - - - - Tooth agenesis, selective, 1 - - - - - - - - - Tooth agenesis, selective, 4 - - - - - - - - - Tooth agenesis, selective, x-linked, 1 - - - - - - - - - Tooth agenesis, selective, 3 - - - - - - - - - Tooth agenesis, selective, 5 - - - - - - - - - Tooth agenesis, selective, 7 - - - - - - - - - Tooth agenesis, selective, 8 - - - - - - - - - Myoglobinuria, acute recurrent, autosomal recessive - - - - - - - - - Leukoencephalopathy, progressive, with ovarian failure - - - - - - - - - Hyperparathyroidism 1 - - - - - - - - - Hyperparathyroidism, primary, caused by water clear cell hyperplasia - - - - - - - - - Hyperparathyroidism 3 - - - - - - - - - Hyperparathyroidism 4 - - - - - - - - - Hypoparathyroidism, familial isolated, 2 - - - - - - - - - Amelogenesis imperfecta, type iiib - - - - - - - - - Angioedema induced by ace inhibitors, susceptibility to - - - - - - - - - Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies - - - - - - - - - Diarrhea 8, secretory sodium, congenital - - - - - - - - - Neuronopathy, distal hereditary motor, type iia - - - - - - - - - Neuronopathy, distal hereditary motor, type iib - - - - - - - - - Neuronopathy, distal hereditary motor, type iic - - - - - - - - - Neuronopathy, distal hereditary motor, type iid - - - - - - - - - Neuronopathy, distal hereditary motor, type va - - - - - - - - - Neuronopathy, distal hereditary motor, type vb - - - - - - - - - Neuronopathy, distal hereditary motor, type vc - - - - - - - - - Neuronopathy, distal hereditary motor, type viia - - - - - - - - Dextrocardia - - - - - - - - - Neuronopathy, distal hereditary motor, type viib - - - - - - - - - Macrothrombocytopenia, isolated, 1, autosomal dominant - - - - - - - - - Bleeding disorder, platelet-type, 15 - - - - - - - - - Bleeding disorder, platelet-type, 24 - - - - - - - - - Atresia of external auditory canal and conductive deafness - - - - - - - - - Aural atresia, congenital - - - - - - - - - Polyposis syndrome, hereditary mixed, 2 - - - - - - - - - Crisponi/cold-induced sweating syndrome 2 - - - - - - - - - Perching syndrome - - - - - - - - - Epilepsy, familial temporal lobe, 3 - - - - - - - - - Epilepsy, familial temporal lobe, 5 - - - - - - - - - Epilepsy, familial temporal lobe, 6 - - - - - - - - - Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked - - - - - - - - - Febrile seizures, familial, 11 - - - - - - - - - Sick sinus syndrome 2 - - - - - - - - - Sick sinus syndrome 3, susceptibility to - - - - - - - - - Epilepsy, hot water, 1 - - - - - - - - - Epilepsy, hot water, 2 - - - - - - - - - Thrombocytopenia 3 - - - - - - - - - Thrombocytopenia 4 - - - - - - - - - Complement component 7 deficiency - - - - - - - - - Complement component 6 deficiency - - - - - - - - - Complement component 9 deficiency - - - - - - - - - Immunodeficiency 104 - - - - - - - - - Immunodeficiency 25 - - - - - - - - - Immunodeficiency 18 - - - - - - - - - Immunodeficiency 19 - - - - - - - - - Rajab interstitial lung disease with brain calcifications 1 - - - - - - - - - Rajab interstitial lung disease with brain calcifications 2 - - - - - - - - - Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis - - - - - - - - - Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia - - - - - - - - - Hypercarotenemia and vitamin a deficiency, autosomal dominant - - - - - - - - - Hypercarotenemia and vitamin a deficiency, autosomal recessive - - - - - - - - - Orofacial cleft 11 - - - - - - - - - Orofacial cleft 6, susceptibility to - - - - - - - - - Orofacial cleft 5 - - - - - - - - - Orofacial cleft 10 - - - - - - - - - Orofacial cleft 15 - - - - - - - - - Orofacial cleft 8 - - - - - - - - - Cerebral palsy, spastic quadriplegic, 2 - - - - - - - - - Cerebral palsy, spastic quadriplegic, 3 - - - - - - - - - Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive - - - - - - - - - Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant - - - - - - - - - Cerebral cavernous malformations 2 - - - - - - - - - Cerebral cavernous malformations 3 - - - - - - - - - Striatonigral degeneration, infantile, mitochondrial - - - - - - - - - Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 - - - - - - - - - Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 - - - - - - - - - Rhabdoid tumor predisposition syndrome 1 - - - - - - - - - Rhabdoid tumor predisposition syndrome 2 - - - - - - - - - Aneurysm, intracranial berry, 1 - - - - - - - - - Aneurysm, intracranial berry, 5 - - - - - - - - - Aneurysm, intracranial berry, 3 - - - - - - - - - Aneurysm, intracranial berry, 4 - - - - - - - - - Aneurysm, intracranial berry, 6 - - - - - - - - - Aneurysm, intracranial berry, 7 - - - - - - - - - Aneurysm, intracranial berry, 8 - - - - - - - - - Aneurysm, intracranial berry, 9 - - - - - - - - - Aneurysm, intracranial berry, 10 - - - - - - - - - Aneurysm, intracranial berry, 11 - - - - - - - - - Aneurysm, intracranial berry, 12 - - - - - - - - - Hermansky-pudlak syndrome 1 - - - - - - - - - Hermansky-pudlak syndrome 4 - - - - - - - - - Hermansky-pudlak syndrome 3 - - - - - - - - - Hermansky-pudlak syndrome 5 - - - - - - - - - Hermansky-pudlak syndrome 6 - - - - - - - - - Hermansky-pudlak syndrome 7 - - - - - - - - - Hermansky-pudlak syndrome 8 - - - - - - - - - Hermansky-pudlak syndrome 9 - - - - - - - - - Hermansky-pudlak syndrome 11 - - - - - - - - - Hypercholanemia, familial 1 - - - - - - - - - Hypercholanemia, familial, 2 - - - - - - - - - Inflammatory bowel disease 25, autosomal recessive - - - - - - - - - Inflammatory bowel disease 28, autosomal recessive - - - - - - - - - Supranuclear palsy, progressive, 2 - - - - - - - - - Supranuclear palsy, progressive, 3 - - - - - - - - - Nephrolithiasis/osteoporosis, hypophosphatemic, 1 - - - - - - - - - Nephrolithiasis/osteoporosis, hypophosphatemic, 2 - - - - - - - - - Pontocerebellar hypoplasia, type 2e - - - - - - - - - Hyperphosphatasia with mental retardation syndrome 1 - - - - - - - - - Hyperphosphatasia with mental retardation syndrome 3 - - - - - - - - - Hyperphosphatasia with mental retardation syndrome 2 - - - - - - - - - Hyperphosphatasia with mental retardation syndrome 4 - - - - - - - - - Glycosylphosphatidylinositol biosynthesis defect 11 - - - - - - - - - Hyperphosphatasia with mental retardation syndrome 6 - - - - - - - - - Erythrocytosis, familial, 3 - - - - - - - - - Erythrocytosis, familial, 4 - - - - - - - - - Fibromatosis, gingival, 5 - - - - - - - - - Stickler syndrome, type iv - - - - - - - - - Stickler syndrome, type v - - - - - - - - - Testicular anomalies with or without congenital heart disease - - - - - - - - - 46,xy sex reversal 9 - - - - - - - - - Mismatch repair cancer syndrome 2 - - - - - - - - - Mismatch repair cancer syndrome 3 - - - - - - - - - Mismatch repair cancer syndrome 4 - - - - - - - - - Hydatidiform mole, recurrent, 1 - - - - - - - - - Hydatidiform mole, recurrent, 2 - - - - - - - - - Hydatidiform mole, recurrent, 3 - - - - - - - - - Hydatidiform mole, recurrent, 4 - - - - - - - - - Mitochondrial dna depletion syndrome 2 (myopathic type) - - - - - - - - - Mitochondrial dna depletion syndrome 19 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 13 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 17 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 22 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 23 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 27 - - - - - - - - - Mitochondrial complex i deficiency, nuclear type 28 - - - - - - - - - - Deafness, autosomal recessive 112 - - - - - - - - - Coenzyme q10 deficiency, primary, 1 - - - - - - - - - Coenzyme q10 deficiency, primary, 3 - - - - - - - - - Anemia, sideroblastic, 4 - - - - - - - - - Anemia, sideroblastic, 2, pyridoxine-refractory - - - - - - - - - Kleefstra syndrome 2 - - - - - - - - - Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 - - - - - - - - - Encephalopathy, acute, infection-induced, susceptibility to, 4 - - - - - - - - - Meningioma, familial, susceptibility to - - - - - - - - - Glycogen storage disease ixa1 - - - - - - - - - Glycogen storage disease ixc - - - - - - - - - Maple syrup urine disease, mild variant - - - - - - - - - Preeclampsia/eclampsia 1 - - - - - - - - Transient neonatal diabetes mellitus - - - - - - - - - Preeclampsia/eclampsia 2 - - - - - - - - - Preeclampsia/eclampsia 3 - - - - - - - - - Preeclampsia/eclampsia 4 - - - - - - - - - Preeclampsia/eclampsia 5 - - - - - - - - - Pulmonary hypertension, primary, 2 - - - - - - - - - Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 - - - - - - - - - Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 - - - - - - - - - Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 - - - - - - - - - Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 - - - - - - - - - Spermatogenic failure 3 - - - - - - - - Yellow nail syndrome - - - - - - - - - Spermatogenic failure 7 - - - - - - - - - Spermatogenic failure 10 - - - - - - - - - Spermatogenic failure 18 - - - - - - - - - Spermatogenic failure 19 - - - - - - - - - Spermatogenic failure 20 - - - - - - - - - Spermatogenic failure 27 - - - - - - - - - Spermatogenic failure 33 - - - - - - - - - Spermatogenic failure 34 - - - - - - - - - Spermatogenic failure 37 - - - - - - - - - Spermatogenic failure 38 - - - - - - - - - Spermatogenic failure 39 - - - - - - - - - Spermatogenic failure 40 - - - - - - - - - Spermatogenic failure 41 - - - - - - - - - Spermatogenic failure 42 - - - - - - - - - Spermatogenic failure 43 - - - - - - - - - Vitamin d hydroxylation-deficient rickets, type 1b - - - - - - - - - Hypophosphatemic rickets, autosomal recessive, 1 - - - - - - - - - Hypophosphatemic rickets, autosomal recessive, 2 - - - - - - - - - Vesicoureteral reflux 1 - - - - - - - - - Vesicoureteral reflux 2 - - - - - - - - - Vesicoureteral reflux 3 - - - - - - - - - Vesicoureteral reflux 4 - - - - - - - - - Vesicoureteral reflux 5 - - - - - - - - - Vesicoureteral reflux 6 - - - - - - - - - Vesicoureteral reflux 7 - - - - - - - - - Vesicoureteral reflux 8 - - - - - - - - - Peeling skin syndrome 4 - - - - - - - - - Peeling skin syndrome 5 - - - - - - - - - 3mc syndrome 2 - - - - - - - - - Inflammatory skin and bowel disease, neonatal, 1 - - - - - - - - - Inflammatory skin and bowel disease, neonatal, 2 - - - - - - - - - Renal-hepatic-pancreatic dysplasia 1 - - - - - - - - - Renal-hepatic-pancreatic dysplasia 2 - - - - - - - - - Chromosome xq26.3 duplication syndrome - - - - - - - - - Hypercalcemia, infantile, 1 - - - - - - - - - Hypercalcemia, infantile, 2 - - - - - - - - - Facial paresis, hereditary congenital, 2 - - - - - - - - - Facial paresis, hereditary congenital, 3 - - - - - - - - - Microcephaly, epilepsy, and diabetes syndrome 1 - - - - - - - - - Microcephaly, epilepsy, and diabetes syndrome 2 - - - - - - - - - Episodic pain syndrome, familial, 2 - - - - - - - - - Cerebroretinal microangiopathy with calcifications and cysts 1 - - - - - - - - - Cerebroretinal microangiopathy with calcifications and cysts 2 - - - - - - - - - Spinal muscular atrophy, distal, autosomal recessive, 5 - - - - - - - - - Neuropathy, hereditary motor, with myopathic features - - - - - - - - - Renal cell carcinoma, xp11-associated - - - - - - - - - Proteasome-associated autoinflammatory syndrome 3 - - - - - - - - - Proteasome-associated autoinflammatory syndrome 2 - - - - - - - - - Proteasome-associated autoinflammatory syndrome 5 - - - - - - - - - Proteasome-associated autoinflammatory syndrome 4 - - - - - - - - - Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 - - - - - - - - - Myasthenic syndrome, congenital, 12 - - - - - - - - - Myasthenic syndrome, congenital, 13 - - - - - - - - - Myasthenic syndrome, congenital, 15 - - - - - - - - - Myasthenic syndrome, congenital, 14 - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 - - - - - - - - - Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 - - - - - - - - - Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - - - - - - - - - Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 - - - - - - - - - Microcephaly, short stature, and impaired glucose metabolism 1 - - - - - - - - - Microcephaly, short stature, and impaired glucose metabolism 2 - - - - - - - - - Parkinson disease 19a, juvenile-onset - - - - - - - - - Parkinson disease 20, early-onset - - - - - - - - - Silver-russell syndrome 3 - - - - - - - - - Silver-russell syndrome 4 - - - - - - - - - Silver-russell syndrome 5 - - - - - - - - - Combined oxidative phosphorylation deficiency 19 - - - - - - - - - Short-rib thoracic dysplasia 14 with polydactyly - - - - - - - - - Immunodeficiency 15b - - - - - - - - - Immunodeficiency 15a - - - - - - - - - Aortic valve disease 1 - - - - - - - - - Aortic valve disease 2 - - - - - - - - - - Melanoma, cutaneous malignant, susceptibility to, 1 - - - - - - - - - Melanoma-pancreatic cancer syndrome - - - - - - - - - Parkinson disease 1, autosomal dominant - - - - - - - - - Parkinson disease 4, autosomal dominant - - - - - - - - - Parkinson disease 8, autosomal dominant - - - - - - - - - Parkinson disease 11, autosomal dominant, susceptibility to - - - - - - - - - Parkinson disease 17 - - - - - - - - - Parkinson disease 18, autosomal dominant, susceptibility to - - - - - - - - - Parkinson disease 21 - - - - - - - - - Microcephaly and chorioretinopathy, autosomal recessive, 1 - - - - - - - - - Microcephaly and chorioretinopathy, autosomal recessive, 3 - - - - - - - - - Short stature, microcephaly, and endocrine dysfunction - - - - - - - - - Seckel syndrome 10 - - - - - - - - - Colorectal cancer, susceptibility to, 10 - - - - - - - - - Colorectal cancer, susceptibility to, 12 - - - - - - - - - Palmoplantar keratoderma, nonepidermolytic, focal 1 - - - - - - - - - Palmoplantar keratoderma, nonepidermolytic, focal 2 - - - - - - - - - Patent ductus arteriosus 2 - - - - - - - - - Patent ductus arteriosus 3 - - - - - - - - - Bleeding disorder, platelet-type, 20 - - - - - - - - - Thrombocytopenia 7 - - - - - - - - - Chilblain lupus 1 - - - - - - - - - Chilblain lupus 2 - - - - - - - - - Spinal muscular atrophy with congenital bone fractures 2 - - - - - - - - - Oocyte maturation defect 2 - - - - - - - - - Oocyte maturation defect 4 - - - - - - - - - Oocyte maturation defect 8 - - - - - - - - - Oocyte maturation defect 9 - - - - - - - - Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome - - - - - - - - - Oocyte maturation defect 10 - - - - - - - - - Intellectual developmental disorder, autosomal dominant 42 - - - - - - - - - Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy - - - - - - - - - Spermatogenic failure, y-linked, 1 - - - - - - - - - Spermatogenic failure, y-linked, 2 - - - - - - - - - Monosomy 7 myelodysplasia and leukemia syndrome 1 - - - - - - - - - Monosomy 7 myelodysplasia and leukemia syndrome 2 - - - - - - - - - Microcephaly, growth restriction, and increased sister chromatid exchange 2 - - - - - - - - - Vertebral, cardiac, renal, and limb defects syndrome 1 - - - - - - - - - Vertebral, cardiac, renal, and limb defects syndrome 2 - - - - - - - - Split cord malformation type I - - - - - - - - - Vertebral, cardiac, renal, and limb defects syndrome 3 - - - - - - - - - Shukla-vernon syndrome - - - - - - - - - Intellectual developmental disorder with autism and speech delay - - - - - - - - - Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies - - - - - - - - - Intellectual developmental disorder, autosomal dominant 61 - - - - - - - - - Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia - - - - - - - - - Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature - - - - - - - - - Developmental delay with variable intellectual impairment and behavioral abnormalities - - - - - - - - - Intellectual developmental disorder with severe speech and ambulation defects - - - - - - - - - Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly - - - - - - - - - Intellectual developmental disorder with impaired language and dysmorphic facies - - - - - - - - - Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies - - - - - - - - - Intellectual developmental disorder with autistic features and language delay, with or without seizures - - - - - - - - - Neurodevelopmental, jaw, eye, and digital syndrome - - - - - - - - - Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities - - - - - - - - - Tolchin-le caignec syndrome - - - - - - - - - Li-ghorbani-weisz-hubshman syndrome - - - - - - - - - Intellectual developmental disorder with seizures and language delay - - - - - - - - - Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia - - - - - - - - - Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies - - - - - - - - - Neurodevelopmental disorder with speech impairment and dysmorphic facies - - - - - - - - - Neurodevelopmental disorder with seizures and brain atrophy - - - - - - - - - Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy - - - - - - - - - Delpire-mcneill syndrome - - - - - - - - - Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities - - - - - - - - - Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities - - - - - - - - - Intellectual developmental disorder with speech delay and axonal peripheral neuropathy - - - - - - - - - Kaya-barakat-masson syndrome - - - - - - - - - Lessel-kreienkamp syndrome - - - - - - - - - Neurodevelopmental disorder with or without early-onset generalized epilepsy - - - - - - - - - Neurodevelopmental disorder with or without autism or seizures - - - - - - - - - Global developmental delay with speech and behavioral abnormalities - - - - - - - - - Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism - - - - - - - - - Neurodevelopmental disorder with dysmorphic facies and variable seizures - - - - - - - - - Alzahrani-kuwahara syndrome - - - - - - - - - Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia - - - - - - - - - Buratti-harel syndrome - - - - - - - - - Intellectual developmental disorder, autosomal dominant 65 - - - - - - - - - Robinow syndrome, autosomal dominant 2 - - - - - - - - - Robinow syndrome, autosomal dominant 3 - - - - - - - - Dicarboxylic aminoaciduria - - - - - - - - - Hemolytic uremic syndrome, atypical, susceptibility to, 1 - - - - - - - - - Complement factor h deficiency - - - - - - - - - Hemolytic uremic syndrome, atypical, susceptibility to, 2 - - - - - - - - - Hemolytic uremic syndrome, atypical, susceptibility to, 3 - - - - - - - - - Hemolytic uremic syndrome, atypical, susceptibility to, 4 - - - - - - - - - Hemolytic uremic syndrome, atypical, susceptibility to, 5 - - - - - - - - - Hemolytic uremic syndrome, atypical, susceptibility to, 6 - - - - - - - - - Nephrotic syndrome, type 7 - - - - - - - - - Trigonocephaly 1 - - - - - - - - - Trigonocephaly 2 - - - - - - - - - Endove syndrome, limb-only type - - - - - - - - - Endove syndrome, limb-brain type - - - - - - - - - Pontocerebellar hypoplasia, type 14 - - - - - - - - - Pontocerebellar hypoplasia, type 15 - - - - - - - - - Lethal congenital contracture syndrome 7 - - - - - - - - - Lethal congenital contracture syndrome 8 - - - - - - - - - Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect - - - - - - - - - Neuropathy, congenital hypomyelinating, 3 - - - - - - - - - Thrombophilia due to protein s deficiency, autosomal dominant - - - - - - - - - Thrombophilia due to protein s deficiency, autosomal recessive - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 2 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 6 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 9 - - - - - - - - - Mitochondrial complex iv deficiency, nuclear type 13 - - - - - - - - - Thrombophilia due to protein c deficiency, autosomal dominant - - - - - - - - - Melanoma, cutaneous malignant, susceptibility to, 2 - - - - - - - - - Melanoma, malignant familial intraocular - - - - - - - - - Melanoma, cutaneous malignant, susceptibility to, 4 - - - - - - - - - Melanoma, cutaneous malignant, susceptibility to, 3 - - - - - - - - - Melanoma, cutaneous malignant, susceptibility to, 5 - - - - - - - - - Melanoma, cutaneous malignant, susceptibility to, 6 - - - - - - - - - Melanoma, cutaneous malignant, susceptibility to, 9 - - - - - - - - - Melanoma, cutaneous malignant, susceptibility to, 10 - - - - - - - - - Hypercalciuria, absorptive, 2 - - - - - - - - - Hypercalciuria, absorptive, 1 - - - - - - - - - Congenital short bowel syndrome - - - - - - - - - Omphalocele, autosomal - - - - - - - - - Omphalocele, x-linked - - - - - - - - - Erythrokeratodermia variabilis et progressiva 2 - - - - - - - - - Erythrokeratodermia variabilis et progressiva 3 - - - - - - - - Diethylstilbestrol syndrome - - - - - - - - - Erythrokeratodermia variabilis et progressiva 4 - - - - - - - - - Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant - - - - - - - - - Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant - - - - - - - - - Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type - - - - - - - - - Sarcoidosis, susceptibility to, 1 - - - - - - - - - Sarcoidosis, susceptibility to, 2 - - - - - - - - - Sarcoidosis, susceptibility to, 3 - - - - - - - - - Polycystic kidney disease 1 with or without polycystic liver disease - - - - - - - - - Polycystic kidney disease 3 with or without polycystic liver disease - - - - - - - - - Polycystic kidney disease 2 with or without polycystic liver disease - - - - - - - - - Hypogonadotropic hypogonadism 10 with or without anosmia - - - - - - - - - Hypogonadotropic hypogonadism 13 with or without anosmia - - - - - - - - - Diabetes insipidus, neurohypophyseal - - - - - - - - - Diabetes insipidus, neurohypophyseal, x-linked - - - - - - - - - Parkinson disease 12 - - - - - - - - - Parkinson disease 6, autosomal recessive early-onset - - - - - - - - - Parkinson disease 7, autosomal recessive early-onset - - - - - - - - - Parkinson disease 10 - - - - - - - - - Parkinson disease 13, autosomal dominant, susceptibility to - - - - - - - - - Parkinson disease 5, autosomal dominant, susceptibility to - - - - - - - - Diffuse neonatal hemangiomatosis - - - - - - - - - Parkinson disease 23, autosomal recessive early-onset - - - - - - - - - Atrial standstill 1 - - - - - - - - - Atrial standstill 2 - - - - - - - - - Xanthomatosis, susceptibility to - - - - - - - - - Hypercholesterolemia, familial, 4 - - - - - - - - Familial dilated cardiomyopathy with conduction defect due to LMNA mutation - - - - - - - - - Dystonia 11, myoclonic - - - - - - - - - - - Developmental and epileptic encephalopathy 2 - - - - - - - - - Amyotrophic lateral sclerosis 21 - - - - - - - - Non-epidermolytic palmoplantar keratoderma - - - - - - - - - Pigmented nodular adrenocortical disease, primary, 1 - - - - - - - - - Cholestasis, progressive familial intrahepatic, 4 - - - - - - - - - - Congenital contractures of the limbs and face, hypotonia, and developmental delay - - - - - - - - - Intellectual developmental disorder, autosomal dominant 1 - - - - - - - - - Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism - - - - - - - - - Nanophthalmos 1 - - - - - - - - - Nanophthalmos 2 - - - - - - - - - Nanophthalmos 3 - - - - - - - - - Microphthalmia, isolated 6 - - - - - - - - - Nanophthalmos 4 - - - - - - - - - Factor v and factor viii, combined deficiency of, 1 - - - - - - - - - Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor - - - - - - - - - Factor v and factor viii, combined deficiency of, 2 - - - - - - - - - Short qt syndrome 1 - - - - - - - - - Short qt syndrome 2 - - - - - - - - - Short qt syndrome 3 - - - - - - - - - Vitamin d hydroxylation-deficient rickets, type 1a - - - - - - - - - Amyloidosis, primary localized cutaneous, 1 - - - - - - - - - Amyloidosis, primary localized cutaneous, 2 - - - - - - - - Progressive symmetric erythrokeratodermia - - - - - - - - X-linked non-syndromic intellectual disability - - - - - - - - Generalized epilepsy with febrile seizures-plus - - - - - - - - Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome - - - - - - - - Autosomal recessive non-syndromic intellectual disability - - - - - - - - Autosomal recessive non-syndromic sensorineural deafness type DFNB - - - - - - - - Juvenile nephronophthisis - - - - - - - - Overgrowth-macrocephaly-facial dysmorphism syndrome - - - - - - - - Hereditary persistence of alpha-fetoprotein - - - - - - - - Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome - - - - - - - - Isolated ATP synthase deficiency - - - - - - - - Autosomal recessive nail dysplasia - - - - - - - - Familial benign flecked retina - - - - - - - - Isolated sedoheptulokinase deficiency - - - - - - - - DNAJB2-related Charcot-Marie-Tooth disease type 2 - - - - - - - - Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome - - - - - - - - Microcephaly-short stature-limb abnormalities syndrome - - - - - - - - - - Fetal hemoglobin quantitative trait locus 1 - - - - - - - - - - Fetal hemoglobin quantitative trait locus 2 - - - - - - - - - - Fetal hemoglobin quantitative trait locus 3 - - - - - - - - - Generalized epilepsy with febrile seizures plus, type 1 - - - - - - - - - Mitochondrial complex v (atp synthase) deficiency, nuclear type 1 - - - - - - - - - Generalized epilepsy with febrile seizures plus, type 2 - - - - - - - - - Generalized epilepsy with febrile seizures plus, type 4 - - - - - - - - - Generalized epilepsy with febrile seizures plus, type 6 - - - - - - - - - Generalized epilepsy with febrile seizures plus, type 8 - - - - - - - - - Generalized epilepsy with febrile seizures plus, type 7 - - - - - - - - - Mitochondrial complex v (atp synthase) deficiency, nuclear type 3 - - - - - - - - - Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 - - - - - - - - - Generalized epilepsy with febrile seizures plus, type 9 - - - - - - - - - Erythrokeratodermia variabilis et progressiva 5 - - - - - - - - - Mitochondrial complex v (atp synthase) deficiency, nuclear type 5 - - - - - - - - - Generalized epilepsy with febrile seizures plus, type 10 - - - - - - - - - Erythrokeratodermia variabilis et progressiva 6 - - - - - - - - - Mitochondrial complex v (atp synthase) deficiency, nuclear type 6 - - - - - - - - - Erythrokeratodermia variabilis et progressiva 7 - - - - - - - - Amoebiasis due to Entamoeba histolytica - - - - - - - - Amyloidosis - - - - - - - - Juvenile idiopathic arthritis - - - - - - - - Atresia of urethra - - - - - - - - Non-rhizomelic chondrodysplasia punctata - - - - - - - - Scimitar syndrome - - - - - - - - Isolated corpus callosum agenesis - - - - - - - - Neonatal diabetes mellitus - - - - - - - - Trisomy 9p - - - - - - - - Digestive duplication - - - - - - - - Spondylometaphyseal dysplasia - - - - - - - - Duchenne and Becker muscular dystrophy - - - - - - - - Congenital herpes simplex virus infection - - - - - - - - Reflex epilepsy - - - - - - - - Hemorrhagic fever-renal syndrome - - - - - - - - Arbovirus fever - - - - - - - - Glycogen storage disease due to phosphorylase kinase deficiency - - - - - - - - Histoplasmosis - - - - - - - - Familial keratoacanthoma - - - - - - - - Keratosis pilaris atrophicans - - - - - - - - Systemic lupus erythematosus - - - - - - - - Toxic epidermal necrolysis - - - - - - - - Primary cutaneous CD30+ T-cell lymphoproliferative disease - - - - - - - - Primary cutaneous lymphoma - - - - - - - - Distal myopathy - - - - - - - - Congenital primary megaureter - - - - - - - - Non-histaminic angioedema - - - - - - - - Plague - - - - - - - - Pili bifurcati - - - - - - - - Rare form of salmonellosis - - - - - - - - Scleroderma - - - - - - - - Congenital cervical spinal stenosis - - - - - - - - Primitive portal vein thrombosis - - - - - - - - Congenital toxoplasmosis - - - - - - - - Primary adult heart tumor - - - - - - - - Primary pediatric heart tumor - - - - - - - - Extragonadal teratoma - - - - - - - - Absence of the pulmonary artery - - - - - - - - Alopecia antibody deficiency - - - - - - - - Sideroblastic anemia - - - - - - - - Isolated lissencephaly type 1 without known genetic defects - - - - - - - - Radial deficiency-tibial hypoplasia syndrome - - - - - - - - Abnormal origin of the pulmonary artery - - - - - - - - Autosomal recessive cerebellar ataxia - - - - - - - - Mitochondrial DNA-related cardiomyopathy and hearing loss - - - - - - - - Diphallia - - - - - - - - Isolated cerebellar agenesis - - - - - - - - Paroxysmal dyskinesia - - - - - - - - Autosomal dominant coarctation of aorta - - - - - - - - Atypical coarctation of aorta - - - - - - - - Criss-cross heart - - - - - - - - Univentricular heart - - - - - - - - Short rib-polydactyly syndrome - - - - - - - - Thin ribs-tubular bones-dysmorphism syndrome - - - - - - - - Benign focal seizures of adolescence - - - - - - - - Non-distal monosomy 10q - - - - - - - - Deletion 5q35 - - - - - - - - Distal monosomy 7q36 - - - - - - - - Distal monosomy 9p - - - - - - - - Xp22.3 microdeletion syndrome - - - - - - - - Sporadic fetal brain disruption sequence - - - - - - - - Familial idiopathic dilatation of the right atrium - - - - - - - - Mosaic trisomy 1 - - - - - - - - Non-distal trisomy 10q - - - - - - - - Non-distal trisomy 13q - - - - - - - - Distal trisomy 14q - - - - - - - - Hemolytic anemia due to diphosphoglycerate mutase deficiency - - - - - - - - Distal trisomy 15q - - - - - - - - Mosaic trisomy 16 - - - - - - - - Distal trisomy 18q - - - - - - - - Distal trisomy 19q - - - - - - - - Mosaic trisomy 20 - - - - - - - - Distal trisomy 6p - - - - - - - - Fibular dimelia-diplopodia syndrome - - - - - - - - 45,X/46,XY mixed gonadal dysgenesis - - - - - - - - Multicystic dysplastic kidney - - - - - - - - Focal, segmental or multifocal dystonia - - - - - - - - Diphtheria - - - - - - - - Fetal trimethadione syndrome - - - - - - - - Toluene embryopathy - - - - - - - - Rasmussen subacute encephalitis - - - - - - - - Frontal encephalocele - - - - - - - - Cleft lip with or without cleft palate - - - - - - - - Cleft lip/palate-deafness-sacral lipoma syndrome - - - - - - - - Median cleft lip/mandibule - - - - - - - - Filariasis - - - - - - - - Congenital systemic arteriovenous fistula - - - - - - - - Progressive non-infectious anterior vertebral fusion - - - - - - - - Diprosopus - - - - - - - - Dysmorphism-pectus carinatum-joint laxity syndrome - - - - - - - - Hemimelia - - - - - - - - Craniosynostosis, Herrmann-Opitz type - - - - - - - - Hypotrichosis-intellectual disability, Lopes type - - - - - - - - Dysmorphism-short stature-deafness-disorder of sex development syndrome - - - - - - - - Isotretinoin syndrome - - - - - - - - Epidermolysis bullosa simplex with anodontia/hypodontia - - - - - - - - Kallmann syndrome-heart disease syndrome - - - - - - - - Isolated punctate palmoplantar keratoderma - - - - - - - - Congenital primary lymphedema without systemic or visceral involvement - - - - - - - - Primary pulmonary lymphoma - - - - - - - - Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies - - - - - - - - Congenital pulmonary airway malformation - - - - - - - - Lower limb malformation-hypospadias syndrome - - - - - - - - Microcephaly-seizures-intellectual disability-heart disease syndrome - - - - - - - - Myalgia-eosinophilia syndrome associated with tryptophan - - - - - - - - Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome - - - - - - - - Adult familial nephronophthisis-spastic quadriparesia syndrome - - - - - - - - Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome - - - - - - - - Congenital pericardium anomaly - - - - - - - - Pericardial and diaphragmatic defect - - - - - - - - Hereditary acrokeratotic poikiloderma - - - - - - - - 46,XX disorder of sex development-anorectal anomalies syndrome - - - - - - - - 46,XX disorder of sex development - - - - - - - - Mirror polydactyly-vertebral segmentation-limbs defects syndrome - - - - - - - - Congenital systemic veins anomaly - - - - - - - - Congenital aortic valve stenosis - - - - - - - - Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome - - - - - - - - Hearing loss-familial salivary gland insensitivity to aldosterone syndrome - - - - - - - - Central nervous system calcification-deafness-tubular acidosis-anemia syndrome - - - - - - - - Disorder of plasmalogens biosynthesis - - - - - - - - Telecanthus-hypertelorism-strabismus-pes cavus syndrome - - - - - - - - Tetrasomy 5p - - - - - - - - Toxocariasis - - - - - - - - Distal trisomy 17q - - - - - - - - American trypanosomiasis - - - - - - - - Neural tube defect - - - - - - - - Germ cell tumor - - - - - - - - Aorto-ventricular tunnel - - - - - - - - Protein S acquired deficiency - - - - - - - - Oral erosive lichen - - - - - - - - Hypoalphalipoproteinemia - - - - - - - - Hypobetalipoproteinemia - - - - - - - - Colchicine poisoning - - - - - - - - Methanol poisoning - - - - - - - - Ethylene glycol poisoning - - - - - - - - Paraquat poisoning - - - - - - - - Digitalis poisoning - - - - - - - - Bullous lichen planus - - - - - - - - Meningococcal meningitis - - - - - - - - Corneal dystrophy - - - - - - - - Severe disseminated cytomegalovirus infection in immunocompetent patients - - - - - - - - Fulminant viral hepatitis - - - - - - - - Epidermal nevus syndrome - - - - - - - - Mitochondrial disorder due to a defect in mitochondrial protein synthesis - - - - - - - - Neurometabolic disorder due to serine deficiency - - - - - - - - Malignant sex cord stromal tumor of ovary - - - - - - - - Acute opioid poisoning - - - - - - - - Polymicrogyria - - - - - - - - Staphylococcal scarlet fever - - - - - - - - Bullous impetigo - - - - - - - - Staphylococcal necrotizing pneumonia - - - - - - - - Gastric linitis plastica - - - - - - - - Familial cervical artery dissection - - - - - - - - Autoimmune hypoparathyroidism - - - - - - - - Interstitial cystitis - - - - - - - - Acquired kinky hair syndrome - - - - - - - - Acitretin/etretinate embryopathy - - - - - - - - Serotonin syndrome - - - - - - - - Acute tricyclic antidepressant poisoning - - - - - - - - Dissecting cellulitis of the scalp - - - - - - - - Acute poisoning by drugs with membrane-stabilizing effect - - - - - - - - Idiopathic neonatal atrial flutter - - - - - - - - Incessant infant ventricular tachycardia - - - - - - - - Superficial pemphigus - - - - - - - - Linear IgA dermatosis - - - - - - - - Postinfectious vasculitis - - - - - - - - Embryonal carcinoma of the central nervous system - - - - - - - - Focal myositis - - - - - - - - Acquired purpura fulminans - - - - - - - - Lichen amyloidosis - - - - - - - - Microlissencephaly-micromelia syndrome - - - - - - - - Zellweger-like syndrome without peroxisomal anomalies - - - - - - - - Duane anomaly-myopathy-scoliosis syndrome - - - - - - - - Anterior cutaneous nerve entrapment syndrome - - - - - - - - Vasculitis - - - - - - - - Orbital leiomyoma - - - - - - - - Posterior cortical atrophy - - - - - - - - Hepatocellular adenoma - - - - - - - - Sarcocystosis - - - - - - - - Pneumococcal meningitis - - - - - - - - Carcinoma of gallbladder and extrahepatic biliary tract - - - - - - - - Human prion disease - - - - - - - - Cirrhotic cardiomyopathy - - - - - - - - Mazabraud syndrome - - - - - - - - Osteoblastoma - - - - - - - - Rhombencephalosynapsis - - - - - - - - Argyria - - - - - - - - Rare epithelial tumor of stomach - - - - - - - - Paraneoplastic pemphigus - - - - - - - - Acrofacial dysostosis, Kennedy-Teebi type - - - - - - - - Late-onset distal myopathy, Markesbery-Griggs type - - - - - - - - Benign idiopathic neonatal seizures - - - - - - - - Oroya fever - - - - - - - - Trench fever - - - - - - - - Granulomatous mastitis - - - - - - - - Pulmonary blastoma - - - - - - - - Hepatoportal sclerosis - - - - - - - - IgG4-related thyroid disease - - - - - - - - Vaginal atresia - - - - - - - - Short fifth metacarpals-insulin resistance syndrome - - - - - - - - Sensorineural hearing loss-early graying-essential tremor syndrome - - - - - - - - Vocal cord and pharyngeal distal myopathy - - - - - - - - Mast cell sarcoma - - - - - - - - Extracutaneous mastocytoma - - - - - - - - Segmental odontomaxillary dysplasia - - - - - - - - Rare hemorrhagic disorder due to a constitutional coagulation factors defect - - - - - - - - Rare chromosomal anomaly - - - - - - - - Rare genetic tumor - - - - - - - - Multiple congenital anomalies/dysmorphic syndrome - - - - - - - - Rare genetic skin disease - - - - - - - - Tumor of hematopoietic and lymphoid tissues - - - - - - - - Rare sleep disorder - - - - - - - - Rare deafness - - - - - - - - Rare vascular disease - - - - - - - - Rare dystonia - - - - - - - - Hemoglobinopathy - - - - - - - - Lysosomal disease - - - - - - - - Peroxisomal disease - - - - - - - - Congenital limb malformation - - - - - - - - Mitochondrial disease - - - - - - - - Neuromuscular disease - - - - - - - - Rare constitutional aplastic anemia - - - - - - - - Neurometabolic disease - - - - - - - - Rare parkinsonian disorder - - - - - - - - Rare bone tumor - - - - - - - - Rare parathyroid disease and phosphocalcic metabolism anomaly - - - - - - - - Vascular anomaly or angioma - - - - - - - - Dysostosis with brachydactyly - - - - - - - - Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization - - - - - - - - Bilateral acute depigmentation of the iris - - - - - - - - Circumscribed palmoplantar hypokeratosis - - - - - - - - Warty dyskeratoma - - - - - - - - Radiation proctitis - - - - - - - - Squamous cell carcinoma of the esophagus - - - - - - - - Adult acute respiratory distress syndrome - - - - - - - - Congenital Epstein-Barr virus infection - - - - - - - - Rare pulmonary hypertension - - - - - - - - Rare hemorrhagic disorder due to a constitutional platelet anomaly - - - - - - - - Autoimmune thrombocytopenia - - - - - - - - Rare soft tissue tumor - - - - - - - - Retinal capillary malformation - - - - - - - - Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome - - - - - - - - Distomatosis - - - - - - - - Silent sinus syndrome - - - - - - - - Rare central nervous system and retinal vascular disease - - - - - - - - Cancer-associated retinopathy - - - - - - - - Benign paroxysmal torticollis of infancy - - - - - - - - Psychogenic movement disorders - - - - - - - - Rare genetic neurological disorder - - - - - - - - Inherited retinal disorder - - - - - - - - Muscular channelopathy - - - - - - - - Intractable diarrhea of infancy - - - - - - - - Global developmental delay-osteopenia-ectodermal defect syndrome - - - - - - - - Kidney tubulopathy-dilated cardiomyopathy syndrome - - - - - - - - Ossification anomalies-psychomotor developmental delay syndrome - - - - - - - - Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome - - - - - - - - Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome - - - - - - - - Myiasis - - - - - - - - Oligocone trichromacy - - - - - - - - Brain malformation-congenital heart disease-postaxial polydactyly syndrome - - - - - - - - Angioosteohypotrophic syndrome - - - - - - - - Tropical endomyocardial fibrosis - - - - - - - - Loeffler endocarditis - - - - - - - - Primary progressive freezing gait - - - - - - - - 6q terminal deletion syndrome - - - - - - - - Primary lymphedema - - - - - - - - Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome - - - - - - - - Monosomy 9q22.3 - - - - - - - - Genetic obesity - - - - - - - - Rare genetic odontologic disease - - - - - - - - Disorder of amino acid and other organic acid metabolism - - - - - - - - Folinic acid-responsive seizures - - - - - - - - Sympathetic ophthalmia - - - - - - - - Von Voss-Cherstvoy syndrome - - - - - - - - Interstitial granulomatous dermatitis with arthritis - - - - - - - - Myxofibrosarcoma - - - - - - - - Respiratory bronchiolitis-interstitial lung disease syndrome - - - - - - - - Trichodysplasia-amelogenesis imperfecta syndrome - - - - - - - - Bickerstaff brainstem encephalitis - - - - - - - - Cerebral organic aciduria - - - - - - - - Disorder of carbohydrate metabolism - - - - - - - - Classic organic aciduria - - - - - - - - Disorder of amino acid absorption and transport - - - - - - - - Disorder of bile acid synthesis - - - - - - - - Disorder of neurotransmitter metabolism and transport - - - - - - - - Disorder of cobalamin metabolism and transport - - - - - - - - Creatine deficiency syndrome - - - - - - - - Disorder of methionine cycle and sulfur amino acid metabolism - - - - - - - - Disorder of fatty acid oxidation and ketone body metabolism - - - - - - - - Disorder of gamma-aminobutyric acid metabolism - - - - - - - - Gluconeogenesis disorder - - - - - - - - Glucose transport disorder - - - - - - - - Disorder of glycerol metabolism - - - - - - - - Disorder of histidine metabolism - - - - - - - - Cleft palate - - - - - - - - Disorder of ketolysis - - - - - - - - Disorder of ornithine or proline metabolism - - - - - - - - Disorder of pentose phosphate metabolism - - - - - - - - Disorder of peptide metabolism - - - - - - - - Disorder of phenylalanin or tyrosine metabolism - - - - - - - - Disorder of purine metabolism - - - - - - - - Disorder of pyridoxine metabolism - - - - - - - - Disorder of pyrimidine metabolism - - - - - - - - Disorder of serine or glycine metabolism - - - - - - - - Sterol biosynthesis disorder - - - - - - - - Disorder of the gamma-glutamyl cycle - - - - - - - - Disorder of branched-chain amino acid metabolism - - - - - - - - Disorder of energy metabolism - - - - - - - - Glycogen storage disease - - - - - - - - Disorder of lysosomal amino acid transport - - - - - - - - Mucolipidosis - - - - - - - - Disorder of biogenic amine metabolism and transport - - - - - - - - Oligosaccharidosis - - - - - - - - Other metabolic disease with skin involvement - - - - - - - - Metabolic disease involving other neurotransmitter deficiency - - - - - - - - Early-onset zonular cataract - - - - - - - - Disorder of purine or pyrimidine metabolism - - - - - - - - Sterol metabolism disorder - - - - - - - - Classic phenylketonuria - - - - - - - - Diazoxide-resistant focal hyperinsulinism - - - - - - - - Epidermal disease - - - - - - - - Ichthyosis - - - - - - - - Erythrokeratoderma - - - - - - - - Acrokeratoderma - - - - - - - - Hereditary palmoplantar keratoderma - - - - - - - - Porokeratosis - - - - - - - - Donnai-Barrow syndrome - - - - - - - - Other epidermal disorder - - - - - - - - Other genetic epidermal disease - - - - - - - - Inherited epidermolysis bullosa - - - - - - - - Epidermal appendage anomaly - - - - - - - - Hair anomaly - - - - - - - - Alopecia - - - - - - - - Rare disorder with hypertrichosis - - - - - - - - Isolated hair shaft abnormality - - - - - - - - Syndromic hair shaft abnormality - - - - - - - - Nail anomaly - - - - - - - - Dihydropyrimidine dehydrogenase deficiency - - - - - - - - Isolated nail anomaly - - - - - - - - Syndromic nail anomaly - - - - - - - - Sebaceous gland anomaly - - - - - - - - Pigmentation anomaly of the skin - - - - - - - - Hyperpigmentation of the skin - - - - - - - - Hypopigmentation of the skin - - - - - - - - Dermis disorder - - - - - - - - Dermis elastic tissue disorder - - - - - - - - Skin vascular disease - - - - - - - - Mixed dermis disorder - - - - - - - - Other dermis disorder - - - - - - - - Subcutaneous tissue disease - - - - - - - - Rare urticaria - - - - - - - - Unclassified genetic skin disorder - - - - - - - - Rare skin tumor or hamartoma - - - - - - - - Metabolic disease with skin involvement - - - - - - - - Mucopolysaccharidosis with skin involvement - - - - - - - - Premature aging - - - - - - - - Rare photodermatosis - - - - - - - - Immune deficiency with skin involvement - - - - - - - - Autosomal recessive dopa-responsive dystonia - - - - - - - - Verrucous nevus - - - - - - - - Pemphigus vegetans - - - - - - - - Pemphigus erythematosus - - - - - - - - Phakomatosis cesioflammea - - - - - - - - Phakomatosis cesiomarmorata - - - - - - - - Phakomatosis spilorosea - - - - - - - - Pili gemini - - - - - - - - Mild hyperphenylalaninemia - - - - - - - - Autoimmune bullous skin disease - - - - - - - - Urogenital tract malformation - - - - - - - - Dopamine beta-hydroxylase deficiency - - - - - - - - Rickettsialpox - - - - - - - - Boutonneuse fever - - - - - - - - Epidemic typhus - - - - - - - - Murine typhus - - - - - - - - Pseudotyphus of California - - - - - - - - Scrub typhus - - - - - - - - Regional odontodysplasia - - - - - - - - Vulvovaginal gingival syndrome - - - - - - - - Narcolepsy type 2 - - - - - - - - Solitary bone cyst - - - - - - - - Subcortical band heterotopia - - - - - - - - Mycoplasma encephalitis - - - - - - - - St. Louis encephalitis - - - - - - - - Colorado tick fever - - - - - - - - Rubella panencephalitis - - - - - - - - Macrostomia-preauricular tags-external ophthalmoplegia syndrome - - - - - - - - LUMBAR syndrome - - - - - - - - Idiopathic malabsorption due to bile acid synthesis defects - - - - - - - - Hinman syndrome - - - - - - - - Collagen type III glomerulopathy - - - - - - - - Craniofacial conodysplasia - - - - - - - - Astley-Kendall dysplasia - - - - - - - - Dysspondyloenchondromatosis - - - - - - - - Ischiovertebral syndrome - - - - - - - - X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome - - - - - - - - X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome - - - - - - - - X-linked intellectual disability-macrocephaly-macroorchidism syndrome - - - - - - - - X-linked intellectual disability, Pai type - - - - - - - - X-linked intellectual disability, Seemanova type - - - - - - - - X-linked intellectual disability, Stevenson type - - - - - - - - X-linked intellectual disability, Stoll type - - - - - - - - X-linked intellectual disability-acromegaly-hyperactivity syndrome - - - - - - - - X-linked neurodegenerative syndrome, Bertini type - - - - - - - - X-linked neurodegenerative syndrome, Hamel type - - - - - - - - X-linked intellectual disability-ataxia-apraxia syndrome - - - - - - - - Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis - - - - - - - - Wild type ABeta2M amyloidosis - - - - - - - - Atypical lichen myxedematosus - - - - - - - - Lissencephaly type 3-familial fetal akinesia sequence syndrome - - - - - - - - Lissencephaly with cerebellar hypoplasia - - - - - - - - Refractory cytopenia with multilineage dysplasia - - - - - - - - Double outlet left ventricle - - - - - - - - Refractory anemia with excess blasts - - - - - - - - Acute basophilic leukemia - - - - - - - - Splenic marginal zone lymphoma - - - - - - - - Non-amyloid monoclonal immunoglobulin deposition disease - - - - - - - - Heavy chain disease - - - - - - - - Nodal marginal zone B-cell lymphoma - - - - - - - - Adult T-cell leukemia/lymphoma - - - - - - - - Hepatosplenic T-cell lymphoma - - - - - - - - Primary cutaneous peripheral T-cell lymphoma not otherwise specified - - - - - - - - Nodular lymphocyte predominant Hodgkin lymphoma - - - - - - - - Double outlet right ventricle - - - - - - - - Histiocytic sarcoma - - - - - - - - Follicular dendritic cell sarcoma - - - - - - - - Dendritic cell sarcoma not otherwise specified - - - - - - - - Methotrexate-associated lymphoproliferative disorders - - - - - - - - Hypothalamic hamartomas with gelastic seizures - - - - - - - - Idiopathic hemiconvulsion-hemiplegia syndrome - - - - - - - - Myoclonic epilepsy of infancy - - - - - - - - Epilepsy with myoclonic absences - - - - - - - - Myoclonic epilepsy in non-progressive encephalopathies - - - - - - - - Diffuse palmoplantar keratoderma-acrocyanosis syndrome - - - - - - - - Rare intellectual disability - - - - - - - - Non-syndromic genetic deafness - - - - - - - - Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome - - - - - - - - Hypertension due to gain-of-function mutations in the mineralocorticoid receptor - - - - - - - - Rare congenital non-syndromic heart malformation - - - - - - - - Esophageal malformation - - - - - - - - Rare dementia - - - - - - - - Undifferentiated connective tissue syndrome - - - - - - - - Inflammatory pseudotumor of the liver - - - - - - - - Radiation myelitis - - - - - - - - Double uterus-hemivagina-renal agenesis syndrome - - - - - - - - Non-syndromic syndactyly - - - - - - - - Mixed-type autoimmune hemolytic anemia - - - - - - - - Drug-induced autoimmune hemolytic anemia - - - - - - - - Hemoglobin D disease - - - - - - - - Gaisböck syndrome - - - - - - - - Sepsis in premature infants - - - - - - - - Recurrent hepatitis C virus induced liver disease in liver transplant recipients - - - - - - - - Complications after hematopoietic stem cell transplantation - - - - - - - - Moderate and severe traumatic brain injury - - - - - - - - Spinal cord injury - - - - - - - - Diffuse alveolar hemorrhage - - - - - - - - Non-infectious posterior uveitis - - - - - - - - Acute liver failure - - - - - - - - Acute peripheral arterial occlusion - - - - - - - - Acquired aneurysmal subarachnoid hemorrhage - - - - - - - - Cocaine intoxication - - - - - - - - Systemic monochloroacetate poisoning - - - - - - - - Hepatitis B reinfection following liver transplantation - - - - - - - - Partial deep dermal and full thickness burns - - - - - - - - Other acquired skin disease - - - - - - - - Familial drusen - - - - - - - - Invasive infections due to vancomycin-resistant enterococci - - - - - - - - Scarring in glaucoma filtration surgical procedures - - - - - - - - AIDS wasting syndrome - - - - - - - - Severe early-onset axonal neuropathy due to MFN2 deficiency - - - - - - - - Hereditary motor and sensory neuropathy with acrodystrophy - - - - - - - - Centrifugal lipodystrophy - - - - - - - - Drug-induced localized lipodystrophy - - - - - - - - Idiopathic localized lipodystrophy - - - - - - - - Panniculitis-induced localized lipodystrophy - - - - - - - - Pressure-induced localized lipoatrophy - - - - - - - - Chilblain lupus - - - - - - - - Discoid lupus erythematosus - - - - - - - - Hypertrophic or verrucous lupus erythematosus - - - - - - - - Lupus erythematosus panniculitis - - - - - - - - Autosomal recessive cutis laxa type 2 - - - - - - - - Secondary intestinal lymphangiectasia - - - - - - - - Telangiectasia macularis eruptiva perstans - - - - - - - - Nodular lichen myxedematosus - - - - - - - - Discrete papular lichen myxedematosus - - - - - - - - Papular mucinosis of infancy - - - - - - - - Acral persistent papular mucinosis - - - - - - - - Self-healing papular mucinosis - - - - - - - - Localized lichen myxedematosus with mixed features of different subtypes - - - - - - - - Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms - - - - - - - - Scleromyxedema without monoclonal gammopathy - - - - - - - - Syndromic genetic deafness - - - - - - - - Rare endocrine growth disease - - - - - - - - Disorder of sex development - - - - - - - - 46,XX disorder of sex development induced by fetal androgens excess - - - - - - - - 46,XY disorder of sex development due to a testosterone synthesis defect - - - - - - - - 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect - - - - - - - - 46,XY disorder of sex development due to testicular steroidogenesis defect - - - - - - - - Other metabolic disease - - - - - - - - Adenovirus infection in immunocompromised patients - - - - - - - - Acquired monoclonal Ig light chain-associated Fanconi syndrome - - - - - - - - Unspecified juvenile idiopathic arthritis - - - - - - - - 46,XX disorder of sex development induced by maternal-derived androgen - - - - - - - - TSH-secreting pituitary adenoma - - - - - - - - Functioning gonadotropic adenoma - - - - - - - - Non-functioning pituitary adenoma - - - - - - - - Pituitary deficiency due to Rathke cleft cysts - - - - - - - - Pituitary dermoid and epidermoid cysts - - - - - - - - Germinoma of the central nervous system - - - - - - - - Pituitary deficiency due to empty sella turcica syndrome - - - - - - - - Duplication of the esophagus - - - - - - - - Congenital esophageal diverticulum - - - - - - - - Chronic pneumonitis of infancy - - - - - - - - Non-specific interstitial pneumonia - - - - - - - - Isolated ankyloblepharon filiforme adnatum - - - - - - - - Congenital ectropion uveae - - - - - - - - Dermatitis herpetiformis - - - - - - - - Lyme disease - - - - - - - - Relapsing fever - - - - - - - - Renal hypoplasia - - - - - - - - Renal dysplasia - - - - - - - - Congenital megacalycosis - - - - - - - - Pauci-immune glomerulonephritis - - - - - - - - Transient pseudohypoaldosteronism - - - - - - - - Renal dysplasia, unilateral - - - - - - - - Renal dysplasia, bilateral - - - - - - - - Unilateral congenital megacalycosis - - - - - - - - Congenital bilateral megacalycosis - - - - - - - - Monostotic fibrous dysplasia - - - - - - - - Ulnar hemimelia - - - - - - - - Juvenile sialidosis type 2 - - - - - - - - Congenital sialidosis type 2 - - - - - - - - FGFR3-related chondrodysplasia - - - - - - - - Type 2 collagen-related bone disorder - - - - - - - - Type 11 collagen-related bone disorder - - - - - - - - Sulfation-related bone disorder - - - - - - - - Perlecan-related bone disorder - - - - - - - - Filamin-related bone disorder - - - - - - - - Multiple epiphyseal dysplasia and pseudoachondroplasia - - - - - - - - Multiple metaphyseal dysplasia - - - - - - - - Spondylodysplastic dysplasia - - - - - - - - Acromelic dysplasia - - - - - - - - Mesomelic and rhizo-mesomelic dysplasia - - - - - - - - Campomelic dysplasia and related disorders - - - - - - - - Slender bone dysplasia - - - - - - - - Primary bone dysplasia with multiple joint dislocations - - - - - - - - Neonatal osteosclerotic dysplasia - - - - - - - - Cataract-intellectual disability-anal atresia-urinary defects syndrome - - - - - - - - Primary bone dysplasia with increased bone density - - - - - - - - Primary bone dysplasia with decreased bone density - - - - - - - - Primary bone dysplasia with defective bone mineralization - - - - - - - - Lysosomal storage disease with skeletal involvement - - - - - - - - Primary osteolysis - - - - - - - - Primary bone dysplasia with disorganized development of skeletal components - - - - - - - - Cleidocranial dysplasia and isolated cranial ossification defect - - - - - - - - Dysostosis with predominant craniofacial involvement - - - - - - - - Dysostosis with predominant vertebral and costal involvement - - - - - - - - Patellar dysostosis - - - - - - - - Non-syndromic limb reduction defect - - - - - - - - Non-syndromic polydactyly, syndactyly and/or hyperphalangy - - - - - - - - Syndrome with synostosis or other joint formation defect - - - - - - - - Overgrowth syndrome - - - - - - - - Chromosomal disease with overgrowth - - - - - - - - Lethal chondrodysplasia - - - - - - - - Renal or urinary tract malformation - - - - - - - - Non-syndromic renal or urinary tract malformation - - - - - - - - Syndromic renal or urinary tract malformation - - - - - - - - Pediatric systemic lupus erythematosus - - - - - - - - Mixed cryoglobulinemia type II - - - - - - - - Mixed cryoglobulinemia type III - - - - - - - - Heavy chain deposition disease - - - - - - - - Light and heavy chain deposition disease - - - - - - - - AApoAI amyloidosis - - - - - - - - ALys amyloidosis - - - - - - - - AFib amyloidosis - - - - - - - - Thrombotic microangiopathy - - - - - - - - Genetic cystic renal disease - - - - - - - - Nephropathy secondary to a storage or other metabolic disease - - - - - - - - Rare renal tubular disease - - - - - - - - Hematological disorder with renal involvement - - - - - - - - Rare cause of hypertension - - - - - - - - Rare renal tumor - - - - - - - - Autoinflammatory syndrome - - - - - - - - Isolated epispadias - - - - - - - - Laryngotracheoesophageal cleft type 1 - - - - - - - - Laryngotracheoesophageal cleft type 2 - - - - - - - - Laryngotracheoesophageal cleft type 4 - - - - - - - - X-linked intellectual disability, Porteous type - - - - - - - - Hamel cerebro-palato-cardiac syndrome - - - - - - - - X-linked intellectual disability, Golabi-Ito-Hall type - - - - - - - - X-linked intellectual disability, Sutherland-Haan type - - - - - - - - Oromandibular dystonia - - - - - - - - Humero-ulnar synostosis - - - - - - - - Neovascular glaucoma - - - - - - - - Uremic pruritus - - - - - - - - Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia - - - - - - - - Non-functioning paraganglioma - - - - - - - - Cytophagic histiocytic panniculitis - - - - - - - - Mills syndrome - - - - - - - - Recessive mitochondrial ataxia syndrome - - - - - - - - Autosomal dominant cerebellar ataxia type I - - - - - - - - Autosomal dominant cerebellar ataxia type III - - - - - - - - Autosomal dominant cerebellar ataxia type IV - - - - - - - - Acute hepatic porphyria - - - - - - - - Chronic hepatic porphyria - - - - - - - - Acute adrenal insufficiency - - - - - - - - Secondary short bowel syndrome - - - - - - - - Mesocardia - - - - - - - - Congenital aortic valve atresia - - - - - - - - Tricuspid valve agenesis - - - - - - - - Congenital tricuspid stenosis - - - - - - - - Straddling or overriding tricuspid valve - - - - - - - - Accessory tricuspid valve tissue - - - - - - - - Anomaly of the tricuspid subvalvular apparatus - - - - - - - - Congenital mitral valve insufficiency and/or stenosis - - - - - - - - Cleft mitral valve - - - - - - - - Double-orifice mitral valve - - - - - - - - Univentricular cardiopathy - - - - - - - - Arterial duct anomaly - - - - - - - - Premature closure of the arterial duct - - - - - - - - Non-acquired pituitary hormone deficiency - - - - - - - - Congenital coronary artery aneurysm - - - - - - - - Disease associated with non-acquired combined pituitary hormone deficiency - - - - - - - - Congenital anomaly of superior vena cava - - - - - - - - Congenital anomaly of the inferior vena cava - - - - - - - - Congenital anomaly of the coronary sinus - - - - - - - - Acquired pituitary hormone deficiency - - - - - - - - Pituitary hormone deficiency of tumoral origin - - - - - - - - Pituitary hormone deficiency of meningeal origin - - - - - - - - Primary hypophysitis - - - - - - - - Congenital anomaly of hepatic vein - - - - - - - - Atrial appendage anomaly - - - - - - - - Adenohypophysitis - - - - - - - - Panhypophysitis - - - - - - - - Pituitary hormone deficiency of vascular origin - - - - - - - - Pituitary apoplexy - - - - - - - - Pituitary hormone deficiency secondary to a granulomatous disease - - - - - - - - Pituitary hormone deficiency secondary to storage disease - - - - - - - - Post-traumatic pituitary deficiency - - - - - - - - Acquired central diabetes insipidus - - - - - - - - Idiopathic isolated micropenis - - - - - - - - Acquired premature ovarian failure - - - - - - - - Non-acquired premature ovarian failure - - - - - - - - Congenital hypothyroidism due to developmental anomaly - - - - - - - - Primary congenital hypothyroidism without thyroid developmental anomaly - - - - - - - - Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies - - - - - - - - Idiopathic congenital hypothyroidism - - - - - - - - Congenital thyroid malformation without hypothyroidism - - - - - - - - Opitz GBBB syndrome - - - - - - - - Mosaic trisomy 4 - - - - - - - - Mosaic trisomy 5 - - - - - - - - Mosaic trisomy 10 - - - - - - - - Distal trisomy 1p36 - - - - - - - - Distal trisomy 2p - - - - - - - - Distal trisomy 3p - - - - - - - - 4p16.3 microduplication syndrome - - - - - - - - Distal trisomy 7p - - - - - - - - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - - - - - - - 8p inverted duplication/deletion syndrome - - - - - - - - Distal trisomy 2q - - - - - - - - 3q26 microduplication syndrome - - - - - - - - Distal trisomy 4q - - - - - - - - Distal trisomy 5q - - - - - - - - Distal trisomy 6q - - - - - - - - Distal trisomy 8q - - - - - - - - Distal trisomy 9q - - - - - - - - Distal trisomy 10q - - - - - - - - Distal trisomy 11q - - - - - - - - Distal trisomy 13q - - - - - - - - Distal trisomy 16q - - - - - - - - Distal trisomy 20q - - - - - - - - Distal trisomy 22q - - - - - - - - Non-distal trisomy 9q - - - - - - - - Monosomy 22 - - - - - - - - Distal monosomy 7p - - - - - - - - Distal monosomy 19p13.3 - - - - - - - - Distal monosomy 4q - - - - - - - - Distal monosomy 12q - - - - - - - - Distal monosomy 14q - - - - - - - - Non-distal monosomy 12q - - - - - - - - Maternal uniparental disomy of chromosome 2 - - - - - - - - Maternal uniparental disomy of chromosome 4 - - - - - - - - Maternal uniparental disomy of chromosome 6 - - - - - - - - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 - - - - - - - - Maternal uniparental disomy of chromosome 9 - - - - - - - - Maternal uniparental disomy of chromosome 16 - - - - - - - - Maternal uniparental disomy of chromosome 21 - - - - - - - - Maternal uniparental disomy of chromosome 22 - - - - - - - - Paternal uniparental disomy of chromosome 5 - - - - - - - - Paternal uniparental disomy of chromosome 6 - - - - - - - - Paternal uniparental disomy of chromosome 7 - - - - - - - - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - - - - - - - Paternal uniparental disomy of chromosome 20 - - - - - - - - Paternal uniparental disomy of chromosome 21 - - - - - - - - X small rings - - - - - - - - Rare genetic deafness - - - - - - - - Isolated partial vaginal agenesis - - - - - - - - Polyploidy - - - - - - - - Isochromosome Y - - - - - - - - Rare otorhinolaryngological malformation - - - - - - - - Anorectal malformation - - - - - - - - Early-onset schizophrenia - - - - - - - - Solar urticaria - - - - - - - - Zebra body myopathy - - - - - - - - Mega-cisterna magna - - - - - - - - GRFoma - - - - - - - - Encephalitis - - - - - - - - PPoma - - - - - - - - Thyroid lymphoma - - - - - - - - Bronchial neuroendocrine tumor - - - - - - - - Thymic neuroendocrine tumor - - - - - - - - Cardiogenic shock - - - - - - - - Rare benign ovarian tumor - - - - - - - - Osgood-Schlatter disease - - - - - - - - Panner disease - - - - - - - - Sinding-Larsen-Johansson disease - - - - - - - - Melanoma of soft tissue - - - - - - - - Dural sinus malformation - - - - - - - - Persistent placoid maculopathy - - - - - - - - Postencephalitic parkinsonism - - - - - - - - Dementia pugilistica - - - - - - - - Caribbean parkinsonism - - - - - - - - Renal hypoplasia, unilateral - - - - - - - - Renal hypoplasia, bilateral - - - - - - - - Unilateral multicystic dysplastic kidney - - - - - - - - Multiloculated renal cyst - - - - - - - - Renal tubular dysgenesis due to twin-twin transfusion - - - - - - - - Drug-related renal tubular dysgenesis - - - - - - - - Pauci-immune glomerulonephritis with ANCA - - - - - - - - Pauci-immune glomerulonephritis without ANCA - - - - - - - - Congenital renal artery stenosis - - - - - - - - Maternal uniparental disomy of chromosome 13 - - - - - - - - Gastroduodenal malformation - - - - - - - - Intestinal malformation - - - - - - - - Respiratory or thoracic malformation - - - - - - - - Infectious disease of the nervous system - - - - - - - - Rare headache - - - - - - - - Rare disease with odontological manifestation - - - - - - - - Rare neurologic disease with psychiatric involvement - - - - - - - - Cranial malformation - - - - - - - - Digestive tract malformation - - - - - - - - Visceral malformation of the liver, biliary tract, pancreas or spleen - - - - - - - - Diaphragmatic or abdominal wall malformation - - - - - - - - Central nervous system malformation - - - - - - - - Respiratory or mediastinal malformation - - - - - - - - Rare male infertility - - - - - - - - Rare female infertility - - - - - - - - Rare allergic respiratory disease - - - - - - - - Rare genetic cardiac disease - - - - - - - - Gamma-aminobutyric acid transaminase deficiency - - - - - - - - Rare genetic renal disease - - - - - - - - Rare tumor - - - - - - - - Rare urinary tract tumor - - - - - - - - Rare digestive tumor - - - - - - - - Rare respiratory tumor - - - - - - - - Rare otorhinolaryngologic tumor - - - - - - - - Rare nervous system tumor - - - - - - - - Rare gynecological tumor - - - - - - - - Gonadal dysgenesis of gynecological interest - - - - - - - - 46,XX disorder of sex development induced by androgens excess - - - - - - - - 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue - - - - - - - - Syndrome with 46,XY disorder of sex development - - - - - - - - Autosomal recessive congenital cerebellar ataxia - - - - - - - - Autosomal recessive metabolic cerebellar ataxia - - - - - - - - Autosomal recessive cerebellar ataxia due to a DNA repair defect - - - - - - - - Autosomal recessive degenerative and progressive cerebellar ataxia - - - - - - - - Autosomal recessive syndromic cerebellar ataxia - - - - - - - - Autosomal anomaly - - - - - - - - Autosomal trisomy - - - - - - - - Total autosomal trisomy - - - - - - - - Partial autosomal trisomy/tetrasomy - - - - - - - - Total autosomal monosomy - - - - - - - - Partial autosomal monosomy - - - - - - - - Autosomal uniparental disomy - - - - - - - - Maternal uniparental disomy - - - - - - - - Paternal uniparental disomy - - - - - - - - Sex-chromosome anomaly - - - - - - - - Sex-chromosome number anomaly - - - - - - - - Sex-chromosome structural anomaly - - - - - - - - Chromosome Y structural anomaly - - - - - - - - Chromosome X structural anomaly - - - - - - - - Malformation syndrome with hamartosis - - - - - - - - Combined dystonia - - - - - - - - Infectious encephalitis - - - - - - - - Chronic encephalitis - - - - - - - - Neonatal epilepsy syndrome - - - - - - - - Infantile epilepsy syndrome - - - - - - - - Childhood-onset epilepsy syndrome - - - - - - - - Adolescent-onset epilepsy syndrome - - - - - - - - Genetic non-syndromic obesity - - - - - - - - Plasma cell tumor - - - - - - - - Histiocytic and dendritic cell tumor - - - - - - - - Macrophage or histiocytic tumor - - - - - - - - Immunodeficiency-associated lymphoproliferative disease - - - - - - - - Laminopathy - - - - - - - - Male infertility due to gonadal dysgenesis - - - - - - - - Male infertility due to obstructive azoospermia - - - - - - - - Autosomal dominant isolated diffuse palmoplantar keratoderma - - - - - - - - Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature - - - - - - - - Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature - - - - - - - - Autosomal recessive isolated diffuse palmoplantar keratoderma - - - - - - - - Autosomal recessive disease with focal palmoplantar keratoderma as a major feature - - - - - - - - Constitutional anemia due to iron metabolism disorder - - - - - - - - Constitutional sideroblastic anemia - - - - - - - - Rare hemolytic anemia - - - - - - - - Rare constitutional hemolytic anemia due to a red cell membrane anomaly - - - - - - - - Hereditary stomatocytosis - - - - - - - - Constitutional hemolytic anemia due to acanthocytosis - - - - - - - - Rare constitutional hemolytic anemia due to an enzyme disorder - - - - - - - - Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies - - - - - - - - Hemolytic anemia due to a disorder of glycolytic enzymes - - - - - - - - Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder - - - - - - - - Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder - - - - - - - - Constitutional megaloblastic anemia due to folate metabolism disorder - - - - - - - - Vitamin B12- and folate-independent constitutional megaloblastic anemia - - - - - - - - Primary acquired red cell aplasia - - - - - - - - Polycythemia - - - - - - - - Secondary polycythemia - - - - - - - - Rare coagulation disorder - - - - - - - - Alpha granule disease - - - - - - - - Dense granule disease - - - - - - - - Skeletal muscle disease - - - - - - - - Metabolic myopathy - - - - - - - - Neuromuscular junction disease - - - - - - - - Acquired neuromuscular junction disease - - - - - - - - Genetic neuromuscular junction disease - - - - - - - - Rare peripheral neuropathy - - - - - - - - Motor neuron disease - - - - - - - - Genetic motor neuron disease - - - - - - - - Acquired motor neuron disease - - - - - - - - Malformation of the cerebellar vermis - - - - - - - - Malformation of the cerebellar hemispheres - - - - - - - - Cranial nerve and nuclear aplasia - - - - - - - - Posterior fossa malformation - - - - - - - - Neurodegenerative disease with dementia - - - - - - - - Frontotemporal degeneration with dementia - - - - - - - - Ataxia with dementia - - - - - - - - Early-onset ataxia with dementia - - - - - - - - Late-onset ataxia with dementia - - - - - - - - Infectious disease with dementia - - - - - - - - Metabolic disease with dementia - - - - - - - - Cerebral lipidosis with dementia - - - - - - - - Rare cerebrovascular dementia - - - - - - - - Microphthalmia-anophthalmia-coloboma - - - - - - - - Syndromic aniridia - - - - - - - - Rare palpebral disorder - - - - - - - - Congenital malformation of the eyelid - - - - - - - - Microblepharon-ablephara syndrome - - - - - - - - Eyelid border anomaly - - - - - - - - Syndromic ankyloblepharon filiforme adnatum - - - - - - - - Hyperkalemic periodic paralysis - - - - - - - - Syndromic eyelid coloboma - - - - - - - - Rare eyelid malposition disorder - - - - - - - - Congenital ectropion - - - - - - - - Secondary ectropion - - - - - - - - Syndromic epicanthus - - - - - - - - Syndromic telecanthus - - - - - - - - Syndromic outer canthal malposition - - - - - - - - Rare disorder with ptosis - - - - - - - - Rare eyebrow/eyelash disorder - - - - - - - - Rare disorder of the lacrimal apparatus - - - - - - - - Congenital alacrima - - - - - - - - Lacrimal drainage system anomaly - - - - - - - - EEC syndrome and related disorders - - - - - - - - Rare disorder with conjunctival involvement as a major feature - - - - - - - - Rare refraction anomaly - - - - - - - - Rare hyperopia and astigmatism - - - - - - - - Syndromic hyperopia - - - - - - - - Syndromic keratoconus - - - - - - - - Superficial corneal dystrophy - - - - - - - - Stromal corneal dystrophy - - - - - - - - Posterior corneal dystrophy - - - - - - - - Syndromic corneal dystrophy - - - - - - - - Congenital malformation of the eye with glaucoma as a major feature - - - - - - - - Corneodysgenesis - - - - - - - - Rare disease with glaucoma as a major feature - - - - - - - - Rare lens disease - - - - - - - - Rare disorder with lens opacification - - - - - - - - Syndromic cataract - - - - - - - - Chromosomal anomaly with cataract - - - - - - - - Metabolic disease with cataract - - - - - - - - Renal disease with cataract - - - - - - - - Musculoskeletal disease with cataract - - - - - - - - Dentocutaneous disease with cataract - - - - - - - - Craniofacial anomaly with cataract - - - - - - - - Lens size anomaly - - - - - - - - Lens position anomaly - - - - - - - - Lens shape anomaly - - - - - - - - Color-vision disease - - - - - - - - Syndromic rod-cone dystrophy - - - - - - - - Vitreoretinopathy - - - - - - - - Hereditary optic neuropathy - - - - - - - - Rare disorder with strabismus - - - - - - - - Syndromic disorder with strabismus - - - - - - - - Craniostenosis with strabismus - - - - - - - - Rare oculomotor nerve disorder - - - - - - - - Congenital trochlear nerve palsy - - - - - - - - Supranuclear eye movement disorder - - - - - - - - Oculomotor apraxia - - - - - - - - Oculocutaneous or ocular albinism - - - - - - - - Uveitis - - - - - - - - Heart position anomaly - - - - - - - - Transposition of the great arteries and conotruncal cardiac anomaly - - - - - - - - Aortic malformation - - - - - - - - Pulmonary artery or pulmonary branch anomaly - - - - - - - - Atrioventricular valve anomaly - - - - - - - - Congenital tricuspid malformation - - - - - - - - Congenital anomaly of the great arteries - - - - - - - - Ascending aorta anomaly - - - - - - - - Rare atrial defect and interatrial communication - - - - - - - - Congenital pulmonary veins anomaly - - - - - - - - Congenital arteriovenous fistula - - - - - - - - Noonan syndrome and Noonan-related syndrome - - - - - - - - Genetic neurological muscular channelopathy - - - - - - - - Neurological muscular channelopathy due to a genetic sodium channel defect - - - - - - - - Neurological muscular channelopathy due to a genetic chloride channel defect - - - - - - - - Neurological muscular channelopathy due to a genetic calcium channel defect - - - - - - - - Neurological muscular channelopathy due to a genetic potassium channel defect - - - - - - - - Neurological muscular channelopathy due to a genetic ryanodine receptor defect - - - - - - - - Genetic neurological channelopathy of the central nervous system - - - - - - - - Neurological channelopathy of the central nervous system due to a genetic sodium channel defect - - - - - - - - Neurological channelopathy of the central nervous system due to a genetic calcium channel defect - - - - - - - - Neurological channelopathy of the central nervous system due to a genetic potassium channel defect - - - - - - - - Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect - - - - - - - - Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect - - - - - - - - Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect - - - - - - - - Autoimmune neurological channelopathy - - - - - - - - Prader-Willi syndrome due to paternal 15q11q13 deletion - - - - - - - - Angelman syndrome due to maternal 15q11q13 deletion - - - - - - - - Angelman syndrome due to paternal uniparental disomy of chromosome 15 - - - - - - - - Isochromosomy Yp - - - - - - - - Isochromosomy Yq - - - - - - - - Benign childhood occipital epilepsy, Panayiotopoulos type - - - - - - - - Benign childhood occipital epilepsy, Gastaut type - - - - - - - - Atypical chronic myeloid leukemia - - - - - - - - Unclassified myelodysplastic/myeloproliferative disease - - - - - - - - Refractory anemia - - - - - - - - Unclassified myelodysplastic syndrome - - - - - - - - Acute myeloid leukemia with 11q23 abnormalities - - - - - - - - Acute myeloid leukemia with minimal differentiation - - - - - - - - Primary mediastinal large B-cell lymphoma - - - - - - - - Intravascular large B-cell lymphoma - - - - - - - - Classic Hodgkin lymphoma, nodular sclerosis type - - - - - - - - Classic Hodgkin lymphoma, mixed cellularity type - - - - - - - - Classic Hodgkin lymphoma, lymphocyte-rich type - - - - - - - - Classic Hodgkin lymphoma, lymphocyte-depleted type - - - - - - - - Indolent systemic mastocytosis - - - - - - - - Systemic mastocytosis with associated hematologic neoplasm - - - - - - - - Aggressive systemic mastocytosis - - - - - - - - Mast cell leukemia - - - - - - - - X-linked complex spastic paraplegia - - - - - - - - Alpha-crystallinopathy - - - - - - - - Acute motor and sensory axonal neuropathy - - - - - - - - Acute motor axonal neuropathy - - - - - - - - Blake pouch cyst - - - - - - - - Multiple system atrophy, parkinsonian type - - - - - - - - Coloboma of eyelid - - - - - - - - Congenital symblepharon - - - - - - - - Partial cryptophthalmia - - - - - - - - Inverse Marcus-Gunn phenomenon - - - - - - - - Climatic droplet keratopathy - - - - - - - - Congenital hereditary endothelial dystrophy type I - - - - - - - - Essential iris atrophy - - - - - - - - Multifocal pattern dystrophy simulating fundus flavimaculatus - - - - - - - - Fundus pulverulentus - - - - - - - - Congenitally uncorrected transposition of the great arteries with coarctation - - - - - - - - Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis - - - - - - - - Double outlet right ventricle with subpulmonary ventricular septal defect - - - - - - - - Double outlet right ventricle with non-committed subpulmonary ventricular septal defect - - - - - - - - Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome - - - - - - - - Pulmonary artery coming from patent ductus arteriosus - - - - - - - - Discrete fibromuscular subaortic stenosis - - - - - - - - Tunnel subaortic stenosis - - - - - - - - Valvular pulmonary stenosis - - - - - - - - Congenital anomaly of the tricuspid valve chordae - - - - - - - - Parachute tricuspid valve - - - - - - - - Hypoplasia of the mitral valve annulus - - - - - - - - Congenital supravalvular mitral ring - - - - - - - - Congenital unguarded mitral orifice - - - - - - - - Accessory mitral valve tissue - - - - - - - - Mitral valve agenesis - - - - - - - - Shone complex - - - - - - - - Straddling and/or overriding mitral valve - - - - - - - - Aorto-right ventricular tunnel - - - - - - - - Aorto-left ventricular tunnel - - - - - - - - Congenital patent ductus arteriosus aneurysm - - - - - - - - Encircling double aortic arch - - - - - - - - Persistent fifth aortic arch - - - - - - - - Kommerell diverticulum - - - - - - - - Neuhauser anomaly - - - - - - - - Cervical aortic arch - - - - - - - - Right aortic arch - - - - - - - - Dysphagia lusoria - - - - - - - - Pulmonary artery hypoplasia - - - - - - - - Coronary ostial stenosis or atresia - - - - - - - - Abnormal number of coronary ostia - - - - - - - - Malposition of a coronary ostium - - - - - - - - Laubry-Pezzi syndrome - - - - - - - - Congenital Gerbode defect - - - - - - - - Juxtaposition of the atrial appendages - - - - - - - - Ectasia of the right atrial appendage - - - - - - - - Ectasia of the left atrial appendage - - - - - - - - Atrial septal aneurysm - - - - - - - - Persistent left superior vena cava connecting through coronary sinus to left-sided atrium - - - - - - - - Right superior vena cava connecting to left-sided atrium - - - - - - - - Persistent left superior vena cava connecting to the roof of left-sided atrium - - - - - - - - Absence of innominate vein - - - - - - - - Subaortic course of innominate vein - - - - - - - - Agenesis of the superior vena cava - - - - - - - - Coronary sinus stenosis - - - - - - - - Coronary sinus atresia - - - - - - - - Right inferior vena cava connecting to left-sided atrium - - - - - - - - Persistent eustachian valve - - - - - - - - Azygos continuation of the inferior vena cava - - - - - - - - Congenital stenosis of the inferior vena cava - - - - - - - - Inferior vena cava interruption without azygos continuation - - - - - - - - Congenital partial pulmonary venous return anomaly - - - - - - - - Congenital complete agenesis of pericardium - - - - - - - - Congenital partial agenesis of pericardium - - - - - - - - Pleuro-pericardial cyst - - - - - - - - Hemolytic anemia due to erythrocyte adenosine deaminase overproduction - - - - - - - - Unstable hemoglobin disease - - - - - - - - Epiblepharon - - - - - - - - Tarsal kink syndrome - - - - - - - - Isolated congenital ectropion - - - - - - - - Euryblepharon - - - - - - - - Congenital eyelid retraction - - - - - - - - Monosomy X - - - - - - - - Mosaic monosomy X - - - - - - - - Paternal uniparental disomy of chromosome 13 - - - - - - - - 49,XYYYY syndrome - - - - - - - - Pituitary adenoma - - - - - - - - Turner syndrome due to structural X chromosome anomalies - - - - - - - - Cheirospondyloenchondromatosis - - - - - - - - Dermotrichic syndrome - - - - - - - - Mesial temporal lobe epilepsy with hippocampal sclerosis - - - - - - - - Early-onset obesity-hyperphagia-severe developmental delay syndrome - - - - - - - - Rare familial disorder with hypertrophic cardiomyopathy - - - - - - - - Bifid uvula - - - - - - - - Lassa fever - - - - - - - - Nipah virus disease - - - - - - - - Crimean-Congo hemorrhagic fever - - - - - - - - Primary syringomyelia - - - - - - - - Secondary syringomyelia - - - - - - - - Idiopathic syringomyelia - - - - - - - - Precursor T-cell acute lymphoblastic leukemia - - - - - - - - Thymic carcinoma - - - - - - - - Thymic neuroendocrine carcinoma - - - - - - - - Acute megakaryoblastic leukemia in Down syndrome - - - - - - - - Cushing syndrome due to ectopic ACTH secretion - - - - - - - - ACTH-dependent Cushing syndrome - - - - - - - - ACTH-independent Cushing syndrome - - - - - - - - Spirillary rat-bite fever - - - - - - - - Streptobacillary rat-bite fever - - - - - - - - House allergic alveolitis - - - - - - - - Occupational allergic alveolitis - - - - - - - - Malignant dysgerminomatous germ cell tumor of the ovary - - - - - - - - Extragonadal non-dysgerminomatous germ cell tumor - - - - - - - - Maligant granulosa cell tumor of the ovary - - - - - - - - Theca steroid-producing cell malignant tumor of ovary, not further specified - - - - - - - - Streptococcal toxic-shock syndrome - - - - - - - - Staphylococcal toxic-shock syndrome - - - - - - - - Invasive mole - - - - - - - - Gestational choriocarcinoma - - - - - - - - Secondary pulmonary hemosiderosis - - - - - - - - Heiner syndrome - - - - - - - - Pleuropulmonary blastoma type 1 - - - - - - - - Pleuropulmonary blastoma type 2 - - - - - - - - Pleuropulmonary blastoma type 3 - - - - - - - - O'Sullivan-McLeod syndrome - - - - - - - - Pleomorphic liposarcoma - - - - - - - - Dedifferentiated liposarcoma - - - - - - - - Well-differentiated liposarcoma - - - - - - - - Apnea of prematurity - - - - - - - - Cutaneous myiasis - - - - - - - - Intermediate DEND syndrome - - - - - - - - Brill-Zinsser disease - - - - - - - - Relapsing epidemic typhus - - - - - - - - Complex regional pain syndrome type 2 - - - - - - - - Reticular perineurioma - - - - - - - - Sclerosing perineurioma - - - - - - - - Extraneural perineurioma - - - - - - - - Lissencephaly with cerebellar hypoplasia type A - - - - - - - - Lissencephaly with cerebellar hypoplasia type B - - - - - - - - Lissencephaly with cerebellar hypoplasia type C - - - - - - - - Lissencephaly with cerebellar hypoplasia type D - - - - - - - - Lissencephaly with cerebellar hypoplasia type E - - - - - - - - Lissencephaly with cerebellar hypoplasia type F - - - - - - - - Refractory anemia with excess blasts type 1 - - - - - - - - Refractory anemia with excess blasts type 2 - - - - - - - - Primary plasmacytoma of the bone - - - - - - - - Extramedullary soft tissue plasmacytoma - - - - - - - - Mu-heavy chain disease - - - - - - - - Alpha-heavy chain disease - - - - - - - - Solitary necrotic nodule of the liver - - - - - - - - Esophageal duplication cyst - - - - - - - - Tubular duplication of the esophagus - - - - - - - - Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies - - - - - - - - Acquired angioedema type 2 - - - - - - - - Acquired angioedema type 1 - - - - - - - - Neurogenic thoracic outlet syndrome - - - - - - - - Duplication of urethra - - - - - - - - Neuroendocrine tumor of stomach - - - - - - - - Duodenal neuroendocrine tumor - - - - - - - - Jejunal neuroendocrine tumor - - - - - - - - Ileal neuroendocrine tumor - - - - - - - - Neuroendocrine neoplasm of appendix - - - - - - - - Neuroendocrine tumor of the colon - - - - - - - - Neuroendocrine tumor of the rectum - - - - - - - - Neuroendocrine tumor of anal canal - - - - - - - - Laryngeal neuroendocrine tumor - - - - - - - - Middle ear neuroendocrine tumor - - - - - - - - Primary hepatic neuroendocrine carcinoma - - - - - - - - Gallbladder neuroendocrine tumor - - - - - - - - Thyroid tumor - - - - - - - - Thyroid carcinoma - - - - - - - - Rare parathyroid tumor - - - - - - - - Adrenal/paraganglial tumor - - - - - - - - Multiple polyglandular tumor - - - - - - - - Thymic tumor - - - - - - - - Neuroendocrine tumor with other location - - - - - - - - FRAXF syndrome - - - - - - - - Autosomal dominant complex spastic paraplegia - - - - - - - - Autosomal dominant pure spastic paraplegia - - - - - - - - Autosomal recessive complex spastic paraplegia - - - - - - - - Autosomal recessive pure spastic paraplegia - - - - - - - - Cleft hard palate - - - - - - - - Sub-cortical nodular heterotopia - - - - - - - - Congenital aortic valve dysplasia - - - - - - - - Unilateral hemispheric polymicrogyria - - - - - - - - Aregenerative anemia - - - - - - - - Marin-Amat syndrome - - - - - - - - Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome - - - - - - - - African tick typhus - - - - - - - - Rare genetic eye disease - - - - - - - - Rare non-syndromic intellectual disability - - - - - - - - Anomaly of the mitral subvalvular apparatus - - - - - - - - Genetic cardiac rhythm disease - - - - - - - - Rare gastroesophageal disease - - - - - - - - Rare pancreatic disease - - - - - - - - Rare vascular liver disease - - - - - - - - Rare parenchymal liver disease - - - - - - - - Rare metabolic liver disease - - - - - - - - Rare biliary tract disease - - - - - - - - Rare hepatic and biliary tract tumor - - - - - - - - Rare pulmonary disease - - - - - - - - Rare bronchopulmonary tumor - - - - - - - - Rare eye tumor - - - - - - - - Rare diabetes mellitus - - - - - - - - Rare dyslipidemia - - - - - - - - Rare adrenal disease - - - - - - - - Rare thyroid disease - - - - - - - - Proximal spinal muscular atrophy type 3 - - - - - - - - Polyendocrinopathy - - - - - - - - Pituitary deficiency - - - - - - - - Primary adrenal insufficiency - - - - - - - - Chronic primary adrenal insufficiency - - - - - - - - Genetic chronic primary adrenal insufficiency - - - - - - - - Acquired chronic primary adrenal insufficiency - - - - - - - - Combined T and B cell immunodeficiency - - - - - - - - Immunodeficiency predominantly affecting antibody production - - - - - - - - Quantitative and/or qualitative congenital phagocyte defect - - - - - - - - Constitutional neutropenia - - - - - - - - Primary immunodeficiency due to a defect in innate immunity - - - - - - - - Immunodeficiency due to a complement cascade protein anomaly - - - - - - - - Periodic fever syndrome - - - - - - - - Primary immunodeficiency - - - - - - - - Rare epilepsy - - - - - - - - Medullar disease - - - - - - - - Rare ataxia - - - - - - - - Rare movement disorder - - - - - - - - Brain inflammatory disease - - - - - - - - Neurovascular malformation - - - - - - - - Other syndrome with lissencephaly as a major feature - - - - - - - - Lissencephaly type 3 - - - - - - - - Pure hereditary spastic paraplegia - - - - - - - - Complex hereditary spastic paraplegia - - - - - - - - Autosomal dominant limb-girdle muscular dystrophy - - - - - - - - Autosomal recessive limb-girdle muscular dystrophy - - - - - - - - Autosomal monosomy - - - - - - - - Rickettsial disease - - - - - - - - Spotted fever rickettsiosis - - - - - - - - Typhus-group rickettsiosis - - - - - - - - Human herpesvirus 8-related disorder - - - - - - - - Unexplained periodic fever syndrome - - - - - - - - Multiple congenital anomalies/dysmorphic syndrome-intellectual disability - - - - - - - - Multiple congenital anomalies/dysmorphic syndrome without intellectual disability - - - - - - - - Rare syndromic intellectual disability - - - - - - - - Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent - - - - - - - - Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor - - - - - - - - Acute myeloid leukemia with t(8;21)(q22;q22) translocation - - - - - - - - Chronic diarrhea due to glucoamylase deficiency - - - - - - - - Congenital enterocyte heparan sulfate deficiency - - - - - - - - Undetermined colitis - - - - - - - - Congenital intestinal transport defect - - - - - - - - Intestinal disease due to vitamin absorption anomaly - - - - - - - - Intestinal disease due to fat malabsorption - - - - - - - - Congenital intestinal disease due to an enzymatic defect - - - - - - - - Congenital enteropathy involving intestinal mucosa development - - - - - - - - Rare disease involving intestinal motility - - - - - - - - Intestinal polyposis syndrome - - - - - - - - Rare tumor of intestine - - - - - - - - Rare inflammatory bowel disease - - - - - - - - Metabolic disease with intestinal involvement - - - - - - - - Adenocarcinoma of the small intestine - - - - - - - - Leiomyosarcoma of small intestine - - - - - - - - Myopathic intestinal pseudoobstruction - - - - - - - - Unclassified intestinal pseudoobstruction - - - - - - - - Non-syndromic esophageal malformation - - - - - - - - Syndromic esophageal malformation - - - - - - - - Non-syndromic gastroduodenal malformation - - - - - - - - Syndromic gastroduodenal malformation - - - - - - - - Non-syndromic intestinal malformation - - - - - - - - Syndromic intestinal malformation - - - - - - - - Non-syndromic visceral malformation - - - - - - - - Syndromic visceral malformation - - - - - - - - Non-syndromic diaphragmatic or abdominal wall malformation - - - - - - - - Syndromic diaphragmatic or abdominal wall malformation - - - - - - - - Non-syndromic central nervous system malformation - - - - - - - - Syndrome with a central nervous system malformation as a major feature - - - - - - - - Non-syndromic respiratory or mediastinal malformation - - - - - - - - Syndromic respiratory or mediastinal malformation - - - - - - - - Rare anemia - - - - - - - - Arthrogryposis syndrome - - - - - - - - Syndrome with limb malformations as a major feature - - - - - - - - Non-syndromic limb malformation - - - - - - - - Rare intestinal disease - - - - - - - - Syndromic anorectal malformation - - - - - - - - Neonatal hypoxic and ischemic brain injury - - - - - - - - Vulvar intraepithelial neoplasia - - - - - - - - Infectious epithelial keratitis - - - - - - - - Neurotrophic keratopathy - - - - - - - - Herpes simplex virus stromal keratitis - - - - - - - - Corneal endotheliitis - - - - - - - - Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - - - - - - - - Intractable diarrhea-choanal atresia-eye anomalies syndrome - - - - - - - - Cardiac anomalies-heterotaxy syndrome - - - - - - - - Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk - - - - - - - - Macular amyloidosis - - - - - - - - Extrapelvic endometriosis - - - - - - - - Madras motor neuron disease - - - - - - - - Syndromic optic nerve hypoplasia - - - - - - - - Choanal atresia, unilateral - - - - - - - - Choanal atresia, bilateral - - - - - - - - Primary laryngeal lymphangioma - - - - - - - - Neonatal brainstem dysfunction - - - - - - - - Laryngotracheal angioma - - - - - - - - Pierre Robin syndrome associated with collagen disease - - - - - - - - Rare disease with Pierre Robin syndrome - - - - - - - - Pierre Robin syndrome associated with a chromosomal anomaly - - - - - - - - Pierre Robin syndrome associated with branchial archs anomalies - - - - - - - - Pierre Robin syndrome associated with bone disease - - - - - - - - Teratogenic Pierre Robin syndrome - - - - - - - - Developmental anomaly of metabolic origin - - - - - - - - Rare bone development disorder - - - - - - - - Malformation syndrome with short stature - - - - - - - - Overgrowth/obesity syndrome - - - - - - - - Rare developmental defect with skin/mucosae involvement - - - - - - - - Rare developmental defect with connective tissue involvement - - - - - - - - Progeroid syndrome - - - - - - - - Branchial arch or oral-acral syndrome - - - - - - - - Orofacial clefting syndrome - - - - - - - - Malformation syndrome with odontal and/or periodontal component - - - - - - - - Non-syndromic craniosynostosis - - - - - - - - Syndromic craniosynostosis - - - - - - - - Congenital panfollicular nevus - - - - - - - - Acute transverse myelitis - - - - - - - - Idiopathic acute transverse myelitis - - - - - - - - Perioral myoclonia with absences - - - - - - - - Jeavons syndrome - - - - - - - - Leukoencephalopathy with bilateral anterior temporal lobe cysts - - - - - - - - Progressive cavitating leukoencephalopathy - - - - - - - - Neuropathy with hearing impairment - - - - - - - - Hereditary sensory and autonomic neuropathy with deafness and global delay - - - - - - - - Inherited cancer-predisposing syndrome - - - - - - - - Secondary hypoparathyroidism due to impaired parathormon secretion - - - - - - - - Autosomal dominant hereditary demyelinating motor and sensory neuropathy - - - - - - - - Autosomal dominant hereditary axonal motor and sensory neuropathy - - - - - - - - Autosomal recessive hereditary demyelinating motor and sensory neuropathy - - - - - - - - Autosomal dominant distal hereditary motor neuropathy - - - - - - - - Autosomal recessive distal hereditary motor neuropathy - - - - - - - - Autosomal dominant hereditary sensory and autonomic neuropathy - - - - - - - - Autosomal recessive hereditary sensory and autonomic neuropathy - - - - - - - - Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome - - - - - - - - Neuro-ophthalmological disease - - - - - - - - Joubert syndrome and related disorders - - - - - - - - Linear atrophoderma of Moulin - - - - - - - - Low-flow priapism - - - - - - - - First branchial cleft anomaly - - - - - - - - Third branchial cleft anomaly - - - - - - - - Fourth branchial cleft anomaly - - - - - - - - Cervical dermoid cyst - - - - - - - - Facial dermoid cyst - - - - - - - - Commissural lip fistula - - - - - - - - Dyschondrosteosis-nephritis syndrome - - - - - - - - Lower lip fistula - - - - - - - - Cervicofacial fibrochondroma - - - - - - - - Digestive duplication cyst of the tongue - - - - - - - - Epignathus - - - - - - - - Nasolacrimal duct cyst - - - - - - - - Polyrrhinia - - - - - - - - Supernumerary nostril - - - - - - - - Proboscis lateralis - - - - - - - - Nasopharyngeal teratoma - - - - - - - - Nasal glial heterotopia - - - - - - - - Nasal ganglioglioma - - - - - - - - Nasal encephalocele - - - - - - - - Congenital subglottic stenosis - - - - - - - - Congenital laryngeal cyst - - - - - - - - Glossopalatine ankylosis - - - - - - - - Frontonasal arteriovenous malformation - - - - - - - - Maxillary arteriovenous malformation - - - - - - - - Mandibular arteriovenous malformation - - - - - - - - Rapidly involuting congenital hemangioma - - - - - - - - Cerebrofacial arteriovenous metameric syndrome type 1 - - - - - - - - Dyschromatosis universalis hereditaria - - - - - - - - Cerebrofacial arteriovenous metameric syndrome type 3 - - - - - - - - Diffuse lymphatic malformation - - - - - - - - Isolated congenital syngnathia - - - - - - - - Nasal dorsum fistula - - - - - - - - Facial cleft - - - - - - - - Median facial cleft - - - - - - - - Median cleft of the upper lip and maxilla - - - - - - - - Oblique facial cleft - - - - - - - - Tessier number 5 facial cleft - - - - - - - - Tessier number 6 facial cleft - - - - - - - - Lateral facial cleft - - - - - - - - Midline cervical cleft - - - - - - - - Rare head and neck malformation - - - - - - - - Cysts and fistulae of the face and oral cavity - - - - - - - - Pinnae fistula or cyst - - - - - - - - Paramedian facial cleft - - - - - - - - Submucosal cleft palate - - - - - - - - Coloboma of superior eyelid - - - - - - - - Coloboma of inferior eyelid - - - - - - - - Otomandibular dysplasia - - - - - - - - Dysequilibrium syndrome - - - - - - - - Mandibulofacial dysostosis - - - - - - - - Predominantly large-vessel vasculitis - - - - - - - - Predominantly medium-vessel vasculitis - - - - - - - - Predominantly small-vessel vasculitis - - - - - - - - Immune complex mediated vasculitis - - - - - - - - Isolated dystonia - - - - - - - - Renal ciliopathy - - - - - - - - Retinal ciliopathy - - - - - - - - Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene - - - - - - - - Retinal ciliopathy due to mutation in the RPGR gene - - - - - - - - Congenital dyserythropoietic anemia - - - - - - - - Retinal ciliopathy due to mutation in the RPGRIP gene - - - - - - - - Retinal ciliopathy due to mutation in Usher gene - - - - - - - - Retinal ciliopathy due to mutation in nephronophthisis gene - - - - - - - - Retinal ciliopathy due to mutation in Bardet-Biedl gene - - - - - - - - Otomandibular dysplasia associated with monogenic syndromes - - - - - - - - Hypoglossia/aglossia - - - - - - - - Oromandibular-limb anomalies syndrome - - - - - - - - Paralytic facial malformation - - - - - - - - Syndrome or malformation associated with head and neck malformations - - - - - - - - Pinnae and external auditory canal anomaly - - - - - - - - Central serous chorioretinopathy - - - - - - - - Congenital dyserythropoietic anemia type I - - - - - - - - Nose and cavum anomaly - - - - - - - - Larynx anomaly - - - - - - - - Tracheal anomaly - - - - - - - - Rare syndrome with cardiac malformations - - - - - - - - Rare genetic hepatic disease - - - - - - - - Genetic parenchymatous liver disease - - - - - - - - Genetic biliary tract disease - - - - - - - - Rare genetic respiratory disease - - - - - - - - Rare genetic urogenital disease - - - - - - - - Genetic urogenital tract malformation - - - - - - - - Congenital dyserythropoietic anemia type II - - - - - - - - Rare genetic cause of hypertension - - - - - - - - Rare genetic endocrine disease - - - - - - - - Genetic endocrine growth disease - - - - - - - - Situs ambiguus - - - - - - - - Epithelioid hemangioendothelioma - - - - - - - - Congenital pseudoarthrosis of the limbs - - - - - - - - Congenital epulis - - - - - - - - Trigeminal autonomic cephalalgia - - - - - - - - Generalized eruptive histiocytosis - - - - - - - - Benign cephalic histiocytosis - - - - - - - - Congenital dyserythropoietic anemia type III - - - - - - - - Juvenile xanthogranuloma - - - - - - - - Papular xanthoma - - - - - - - - Indeterminate cell histiocytosis - - - - - - - - Progressive nodular histiocytosis - - - - - - - - Hemophagocytic syndrome - - - - - - - - Primary hemophagocytic lymphohistiocytosis - - - - - - - - Secondary hemophagocytic lymphohistiocytosis - - - - - - - - Acquired hemophagocytic lymphohistiocytosis associated with malignant disease - - - - - - - - Genetic dementia - - - - - - - - Huntington disease-like syndrome - - - - - - - - Qualitative or quantitative defects of dysferlin - - - - - - - - Rare genetic hematologic disease - - - - - - - - Localized dystrophic epidermolysis bullosa, acral form - - - - - - - - Localized dystrophic epidermolysis bullosa, nails only - - - - - - - - Typical urticaria pigmentosa - - - - - - - - Plaque-form urticaria pigmentosa - - - - - - - - Nodular urticaria pigmentosa - - - - - - - - Smoldering systemic mastocytosis - - - - - - - - Isolated bone marrow mastocytosis - - - - - - - - Cap polyposis - - - - - - - - Isolated congenital nasal pyriform aperture stenosis - - - - - - - - Familial dysfibrinogenemia - - - - - - - - Isolated congenital auditory ossicle malformation - - - - - - - - Non-syndromic cerebral malformation due to abnormal neuronal migration - - - - - - - - Subacute cutaneous lupus erythematosus - - - - - - - - Chronic cutaneous lupus erythematosus - - - - - - - - Rare bacterial infectious disease - - - - - - - - Rare viral disease - - - - - - - - Rare parasitic disease - - - - - - - - Rare mycosis - - - - - - - - Bile acid synthesis defect with cholestasis and malabsorption - - - - - - - - Rare disorder related with pregnancy, childbirth and puerperium - - - - - - - - Extragonadal germinoma - - - - - - - - Cryptogenic late-onset epileptic spasms - - - - - - - - Posttransplant acute limbic encephalitis - - - - - - - - Acrodermatitis continua of Hallopeau - - - - - - - - Atopic keratoconjunctivitis - - - - - - - - X-linked intellectual disability, Cilliers type - - - - - - - - Rare odontal or periodontal disorder - - - - - - - - Middle ear anomaly - - - - - - - - Acute myeloid leukemia and myelodysplastic syndromes related to radiation - - - - - - - - Rare acquired aplastic anemia - - - - - - - - Rare genetic gastroenterological disease - - - - - - - - Genetic intestinal disease - - - - - - - - Genetic gastro-esophageal disease - - - - - - - - Genetic pancreatic disease - - - - - - - - Non-syndromic urogenital tract malformation - - - - - - - - Syndromic urogenital tract malformation - - - - - - - - Wound myiasis - - - - - - - - Cavitary myiasis - - - - - - - - Diazoxide-sensitive diffuse hyperinsulinism - - - - - - - - Diazoxide-resistant diffuse hyperinsulinism - - - - - - - - Bazex syndrome - - - - - - - - - Dyskeratosis congenita, x-linked - - - - - - - - Porokeratotic eccrine ostial and dermal duct nevus - - - - - - - - Benign non-familial infantile seizures - - - - - - - - Benign partial epilepsy of infancy with complex partial seizures - - - - - - - - Benign partial epilepsy with secondarily generalized seizures in infancy - - - - - - - - Benign infantile seizures associated with mild gastroenteritis - - - - - - - - Benign infantile focal epilepsy with midline spikes and waves during sleep - - - - - - - - Benign partial infantile seizures - - - - - - - - Audiogenic seizures - - - - - - - - Eating reflex epilepsy - - - - - - - - Orgasm-induced seizures - - - - - - - - Thinking seizures - - - - - - - - Startle epilepsy - - - - - - - - Micturation-induced seizures - - - - - - - - Epilepsy syndrome - - - - - - - - Neurocutaneous syndrome with epilepsy - - - - - - - - Chromosomal anomaly with epilepsy as a major feature - - - - - - - - Monogenic disease with epilepsy - - - - - - - - Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes - - - - - - - - Cerebral malformation with epilepsy - - - - - - - - Metabolic diseases with epilepsy - - - - - - - - Dysmorphism-cleft palate-loose skin syndrome - - - - - - - - Inflammatory and autoimmune disease with epilepsy - - - - - - - - Cerebral diseases of vascular origin with epilepsy - - - - - - - - Infectious disease with epilepsy - - - - - - - - Rare hemorrhagic disorder due to an acquired coagulation factor defect - - - - - - - - Hereditary dentin defect - - - - - - - - Rare disease with dentinogenesis imperfecta - - - - - - - - Rare cardiomyopathy - - - - - - - - Rare cardiac tumor - - - - - - - - Dysplasia of head of femur, Meyer type - - - - - - - - Rare pervasive developmental disorder - - - - - - - - Ascher syndrome - - - - - - - - Primary peritoneal tumor - - - - - - - - Primary malignant peritoneal tumor - - - - - - - - Malignant peritoneal mesothelioma - - - - - - - - Primary peritoneal carcinoma - - - - - - - - Chronic eosinophilic leukemia - - - - - - - - Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 - - - - - - - - Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement - - - - - - - - Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement - - - - - - - - Refractory anemia with excess blasts in transformation - - - - - - - - Composite lymphoma - - - - - - - - Malignant melanoma of the mucosa - - - - - - - - Immunoglobulin heavy chain deficiency - - - - - - - - Transient hypogammaglobulinemia of infancy - - - - - - - - Familial scaphocephaly syndrome - - - - - - - - DNA repair defect other than combined T-cell and B-cell immunodeficiencies - - - - - - - - Immuno-osseous dysplasia - - - - - - - - Immunodeficiency syndrome with autoimmunity - - - - - - - - Immune dysregulation disease with immunodeficiency - - - - - - - - Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells - - - - - - - - Idiopathic central precocious puberty - - - - - - - - Dysosteosclerosis - - - - - - - - Secondary central precocious puberty - - - - - - - - Congenital vitamin K-dependent coagulation factors deficiency - - - - - - - - Rectal duplication - - - - - - - - Limbal stem cell deficiency - - - - - - - - Idiopathic bilateral vestibulopathy - - - - - - - - Microcephaly-polymicrogyria-corpus callosum agenesis syndrome - - - - - - - - 6q16 microdeletion syndrome - - - - - - - - Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome - - - - - - - - Intellectual disability-cataracts-kyphosis syndrome - - - - - - - - Myopathy with hexagonally cross-linked tubular arrays - - - - - - - - - Robinow syndrome, autosomal dominant 1 - - - - - - - - Myeloid hemopathy - - - - - - - - Lymphoid hemopathy - - - - - - - - B-cell non-Hodgkin lymphoma - - - - - - - - T-cell non-Hodgkin lymphoma - - - - - - - - Congenital myopathy with cores - - - - - - - - Congenital hypogonadotropic hypogonadism - - - - - - - - Rare adult hypothyroidism - - - - - - - - Syndromic hypothyroidism - - - - - - - - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - - - - - - - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - - - - - - - Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations - - - - - - - - Rare peripheral precocious puberty - - - - - - - - Transient congenital hypothyroidism - - - - - - - - Antenatal multiminicore disease with arthrogryposis multiplex congenita - - - - - - - - Isolated sternocostoclavicular hyperostosis - - - - - - - - Undifferentiated embryonal sarcoma of the liver - - - - - - - - Acute lung injury - - - - - - - - Osteosclerosis-developmental delay-craniosynostosis syndrome - - - - - - - - Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation - - - - - - - - Wound botulism - - - - - - - - Peripheral dysostosis - - - - - - - - Infant botulism - - - - - - - - Intestinal botulism - - - - - - - - Adult intestinal botulism - - - - - - - - Myopic macular degeneration - - - - - - - - Folliculotropic mycosis fungoides - - - - - - - - Localized pagetoid reticulosis - - - - - - - - Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma - - - - - - - - Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma - - - - - - - - Primary cutaneous gamma/delta-positive T-cell lymphoma - - - - - - - - Primary cutaneous marginal zone B-cell lymphoma - - - - - - - - Dysostosis, Stanescu type - - - - - - - - Primary cutaneous diffuse large B-cell lymphoma, leg type - - - - - - - - Indolent primary cutaneous T-cell lymphoma - - - - - - - - Aggressive primary cutaneous T-cell lymphoma - - - - - - - - Aggressive primary cutaneous B-cell lymphoma - - - - - - - - Indolent primary cutaneous B-cell lymphoma - - - - - - - - Primary cutaneous B-cell lymphoma - - - - - - - - Mycosis fungoides and variants - - - - - - - - Acquired neutropenia - - - - - - - - Primary immunodeficiency due to a defect in adaptive immunity - - - - - - - - Obesity due to congenital leptin resistance - - - - - - - - Uterovaginal malformation - - - - - - - - Non-syndromic uterovaginal malformation - - - - - - - - Partial bilateral aplasia of the Müllerian ducts - - - - - - - - Unilateral aplasia of the Müllerian ducts - - - - - - - - True unicornuate uterus - - - - - - - - Pseudounicornuate uterus - - - - - - - - Didelphys uterus - - - - - - - - Bicervical bicornuate uterus and blind hemivagina - - - - - - - - Bicervical bicornuate uterus with patent cervix and vagina - - - - - - - - Unicervical bicornuate uterus - - - - - - - - Septate uterus - - - - - - - - Complete septate uterus - - - - - - - - Partial septate uterus - - - - - - - - Bicornuate uterus - - - - - - - - Uterine hypoplasia - - - - - - - - Absence of uterine body - - - - - - - - Uterine cervical aplasia and agenesis - - - - - - - - Syndromic uterovaginal malformation - - - - - - - - Rare vaginal malformation - - - - - - - - Septate vagina - - - - - - - - Dysplasia epiphysealis hemimelica - - - - - - - - Longitudinal vaginal septum - - - - - - - - Transverse vaginal septum - - - - - - - - Rare breast malformation - - - - - - - - Excess breast volume or number - - - - - - - - Deficient breast volume or number - - - - - - - - Supernumerary breasts - - - - - - - - Syndromic breast hypoplasia/aplasia - - - - - - - - Rare non-malformative gynecologic or obstetric disease - - - - - - - - Rare non-malformative breast disease - - - - - - - - Rare non-malformative uterovaginal or vulvovaginal disease - - - - - - - - Anomaly of puberty or/and menstrual cycle - - - - - - - - Rare uterine adnexal tumor - - - - - - - - Mixed germ cell tumor - - - - - - - - Benign tumor of fallopian tubes - - - - - - - - Malignant tumor of fallopian tubes - - - - - - - - Rare breast tumor - - - - - - - - Giant adenofibroma of the breast - - - - - - - - Rare non-malformative uterine adnexal disease - - - - - - - - Rare vulvovaginal tumor - - - - - - - - Malformative syndrome with dentinogenesis imperfecta - - - - - - - - Non-syndromic diaphragmatic or thoracic malformation - - - - - - - - Syndromic diaphragmatic or thoracic malformation - - - - - - - - Rare gastroesophageal tumor - - - - - - - - Rare insulin-resistance syndrome - - - - - - - - Rare diabetes mellitus type 1 - - - - - - - - Rare diabetes mellitus type 2 - - - - - - - - Other rare diabetes mellitus - - - - - - - - Rare hypothalamic or pituitary disease - - - - - - - - Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism - - - - - - - - Dysplastic cortical hyperostosis - - - - - - - - Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature - - - - - - - - Rare hypothyroidism - - - - - - - - Rare hyperthyroidism - - - - - - - - Syndrome with hypoparathyroidism - - - - - - - - Rare hypoparathyroidism - - - - - - - - Rare hyperparathyroidism - - - - - - - - Adrenogenital syndrome - - - - - - - - Rare primary hyperaldosteronism - - - - - - - - Rare hypoaldosteronism - - - - - - - - Rare hyperlipidemia - - - - - - - - Hyperalphalipoproteinemia - - - - - - - - Rare hypolipidemia - - - - - - - - Rare syndromic dyslipidemia - - - - - - - - Rare disorder with hypergonadotropic hypogonadism - - - - - - - - Aplastic anemia - - - - - - - - Rare constitutional hemolytic anemia - - - - - - - - Rare acquired hemolytic anemia - - - - - - - - Rare thrombotic disease of hematologic origin - - - - - - - - Cerebellar malformation - - - - - - - - Rare neuroinflammatory or neuroimmunological disease - - - - - - - - Rare neurodegenerative disease - - - - - - - - ARX-related epileptic encephalopathy - - - - - - - - Channelopathy with epilepsy - - - - - - - - Acquired peripheral neuropathy - - - - - - - - Interstitial lung disease - - - - - - - - Pneumoconiosis - - - - - - - - Idiopathic eosinophilic pneumonia - - - - - - - - Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease - - - - - - - - Thoracic malformation - - - - - - - - Respiratory malformation - - - - - - - - Rare urogenital tumor - - - - - - - - Non-syndromic urogenital tract malformation of female - - - - - - - - Non-syndromic urogenital tract malformation of male - - - - - - - - Non-syndromic urogenital tract malformation of male and female - - - - - - - - Tumor of endocrine glands - - - - - - - - Rare systemic disease - - - - - - - - Systemic autoimmune disease - - - - - - - - Rare rheumatologic disease - - - - - - - - Genetic urticaria - - - - - - - - Polymalformative genetic syndrome with increased risk of developing cancer - - - - - - - - Dyssegmental dysplasia, Silverman-Handmaker type - - - - - - - - Genetic epidermal disorder - - - - - - - - Inherited ichthyosis - - - - - - - - Genetic erythrokeratoderma - - - - - - - - Genetic acrokeratoderma - - - - - - - - Genetic porokeratosis - - - - - - - - Genetic epidermal appendage anomaly - - - - - - - - Genetic hair anomaly - - - - - - - - Genetic nail anomaly - - - - - - - - Genetic sebaceous gland anomaly - - - - - - - - Genetic pigmentation anomaly of the skin - - - - - - - - Early-onset generalized limb-onset dystonia - - - - - - - - Genetic hyperpigmentation of the skin - - - - - - - - Genetic hypopigmentation of the skin - - - - - - - - Genetic dermis disorder - - - - - - - - Genetic skin vascular disorder - - - - - - - - Genetic mixed dermis disorder - - - - - - - - Genetic subcutaneous tissue disorder - - - - - - - - Genetic skin tumor or hamartoma - - - - - - - - Genetic photodermatosis - - - - - - - - Genetic immune deficiency with skin involvement - - - - - - - - Genetic neuromuscular disease - - - - - - - - Primary dystonia, DYT2 type - - - - - - - - Genetic neurodegenerative disease - - - - - - - - Genetic central nervous system and retinal vascular disease - - - - - - - - Genetic central nervous system malformation - - - - - - - - Rare genetic headache - - - - - - - - Rare genetic epilepsy - - - - - - - - Rare genetic medullar disease - - - - - - - - Rare hereditary ataxia - - - - - - - - Rare genetic movement disorder - - - - - - - - Rare genetic bone disease - - - - - - - - Genetic bone tumor - - - - - - - - Rare genetic developmental defect during embryogenesis - - - - - - - - Genetic multiple congenital anomalies/dysmorphic syndrome - - - - - - - - Genetic congenital limb malformation - - - - - - - - Genetic renal or urinary tract malformation - - - - - - - - Genetic cranial malformation - - - - - - - - Genetic digestive tract malformation - - - - - - - - Genetic visceral malformation of the liver, biliary tract, pancreas or spleen - - - - - - - - Genetic respiratory or mediastinal malformation - - - - - - - - Genetic developmental defect of the eye - - - - - - - - Genetic malformation syndrome with short stature - - - - - - - - Genetic overgrowth/obesity syndrome - - - - - - - - Genetic branchial arch or oral-acral syndrome - - - - - - - - Genetic malformation syndrome with odontal and/or periodontal component - - - - - - - - Genetic head and neck malformation - - - - - - - - Genetic glomerular disease - - - - - - - - Genetic thrombotic microangiopathy - - - - - - - - Genetic renal tubular disease - - - - - - - - Genetic renal tumor - - - - - - - - Genetic lens and zonula anomaly - - - - - - - - Genetic neuro-ophthalmological disease - - - - - - - - Qualitative or quantitative defects of dystrophin - - - - - - - - Genetic eye tumor - - - - - - - - Genetic respiratory malformation - - - - - - - - Rare genetic diabetes mellitus - - - - - - - - Rare genetic hypothalamic or pituitary disease - - - - - - - - Rare genetic thyroid disease - - - - - - - - Rare genetic parathyroid disease and phosphocalcic metabolism disorder - - - - - - - - Rare genetic adrenal disease - - - - - - - - Genetic polyendocrinopathy - - - - - - - - Rare constitutional anemia - - - - - - - - Rare genetic coagulation disorder - - - - - - - - Agammaglobulinemia - - - - - - - - Functional neutrophil defect - - - - - - - - Genetic susceptibility to infections due to particular pathogens - - - - - - - - Rare genetic gynecological and obstetrical diseases - - - - - - - - Genetic gynecological tumor - - - - - - - - Rare genetic intellectual disability - - - - - - - - Rare genetic syndromic intellectual disability - - - - - - - - Rare genetic immune disease - - - - - - - - Superficial fibromatosis - - - - - - - - Calcifying aponeurotic fibroma - - - - - - - - Ear-patella-short stature syndrome - - - - - - - - Congenital microgastria - - - - - - - - Late-onset isolated ACTH deficiency - - - - - - - - Tetragametic chimerism - - - - - - - - Endophthalmitis - - - - - - - - Isolated autosomal dominant hypomagnesemia, Glaudemans type - - - - - - - - Congenital myopathy, Paradas type - - - - - - - - Atypical autism - - - - - - - - Isolated cerebellar vermis hypoplasia - - - - - - - - Non-syndromic cerebral malformation - - - - - - - - Syndrome with corpus callosum agenesis/dysgenesis as a major feature - - - - - - - - Paroxysmal dystonia - - - - - - - - Anomaly of puberty or/and menstrual cycle of genetic origin - - - - - - - - Syndromic microphthalmia-anophthalmia-coloboma - - - - - - - - Infantile Krabbe disease - - - - - - - - Late-infantile/juvenile Krabbe disease - - - - - - - - Adult Krabbe disease - - - - - - - - Cystadenoma of childhood - - - - - - - - Malignant germ cell tumor of the vagina - - - - - - - - Vulvovaginal rhabdomyosarcoma - - - - - - - - Malignant non-dysgerminomatous germ cell tumor of ovary - - - - - - - - Ebola hemorrhagic fever - - - - - - - - Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers - - - - - - - - Immune-mediated necrotizing myopathy - - - - - - - - Overlap myositis - - - - - - - - Rippling muscle disease with myasthenia gravis - - - - - - - - Neurolymphomatosis - - - - - - - - Subacute inflammatory demyelinating polyneuropathy - - - - - - - - Isolated asymptomatic elevation of creatine phosphokinase - - - - - - - - Infectious disease with peripheral neuropathy - - - - - - - - Genetic skeletal muscle disease - - - - - - - - Acquired skeletal muscle disease - - - - - - - - Progressive muscular dystrophy - - - - - - - - Autosomal dominant distal myopathy - - - - - - - - Autosomal recessive distal myopathy - - - - - - - - Non-dystrophic myopathy - - - - - - - - Inclusion myopathy - - - - - - - - Bulbospinal muscular atrophy - - - - - - - - Bulbospinal muscular atrophy of childhood - - - - - - - - Bulbospinal muscular atrophy of adult - - - - - - - - Generalized bulbospinal muscular atrophy - - - - - - - - Muscular lipidosis - - - - - - - - Muscular glycogenosis - - - - - - - - Mitochondrial myopathy - - - - - - - - Myotonic syndrome - - - - - - - - Congenital myotonia - - - - - - - - Periodic paralysis - - - - - - - - Muscular tumor - - - - - - - - Infectious, fungal or parasitic myopathy - - - - - - - - Viral myositis - - - - - - - - Bacterial myositis - - - - - - - - Parasitic myositis - - - - - - - - Fungal myositis - - - - - - - - Spinal muscular atrophy associated with central nervous system anomaly - - - - - - - - Rare hereditary metabolic disease with peripheral neuropathy - - - - - - - - Rare hereditary systemic disease with peripheral neuropathy - - - - - - - - Rare hereditary neurologic disease with peripheral neuropathy - - - - - - - - Cerebellar ataxia with peripheral neuropathy - - - - - - - - Acute and subacute inflammatory demyelinating polyneuropathy - - - - - - - - Malignant lymphoma with peripheral neuropathy - - - - - - - - Qualitative or quantitative protein defects in neuromuscular diseases - - - - - - - - Qualitative or quantitative defects of sarcoglycan - - - - - - - - Qualitative or quantitative defects of alpha-sarcoglycan - - - - - - - - Qualitative or quantitative defects of beta-sarcoglycan - - - - - - - - Qualitative or quantitative defects of gamma-sarcoglycan - - - - - - - - Qualitative or quantitative defects of delta-sarcoglycan - - - - - - - - Qualitative or quantitative defects of caveolin-3 - - - - - - - - Qualitative or quantitative defects of collagen 6 - - - - - - - - Laminin subunit alpha 2-related muscular dystrophy - - - - - - - - Qualitative or quantitative defects of integrin alpha-7 - - - - - - - - Qualitative or quantitative defects of perlecan - - - - - - - - Qualitative or quantitative defects of calpain - - - - - - - - Qualitative or quantitative defects of TRIM32 - - - - - - - - Qualitative or quantitative defects of myotubularin - - - - - - - - Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan - - - - - - - - Qualitative or quantitative defects of FKRP - - - - - - - - Qualitative or quantitative defects of fukutin - - - - - - - - Autosomal dominant cerebellar ataxia type II - - - - - - - - Herpetiform pemphigus - - - - - - - - Genetic hypoparathyroidism - - - - - - - - Genetic hyperparathyroidism - - - - - - - - Chronic acquired demyelinating polyneuropathy - - - - - - - - Chronic polyradiculoneuropathy - - - - - - - - Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies - - - - - - - - Acquired sensory ganglionopathy - - - - - - - - Non-paraneoplastic sensory ganglionopathy - - - - - - - - Paraneoplastic sensory ganglionopathy - - - - - - - - Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy - - - - - - - - Systemic inflammatory disease associated with an acquired peripheral neuropathy - - - - - - - - Peripheral neuropathy associated with monoclonal gammopathy - - - - - - - - Acquired amyloid peripheral neuropathy - - - - - - - - Hematological disease associated with an acquired peripheral neuropathy - - - - - - - - Solid tumor associated with an acquired peripheral neuropathy - - - - - - - - Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase - - - - - - - - Qualitative or quantitative defects of protein glycosyltransferase-like - - - - - - - - Qualitative or quantitative defects of protein O-mannosyltransferase 1 - - - - - - - - Qualitative or quantitative defects of protein O-mannosyltransferase 2 - - - - - - - - Qualitative or quantitative defects of myofibrillar proteins - - - - - - - - Qualitative or quantitative defects of desmin - - - - - - - - Qualitative or quantitative defects of alphaB-cristallin - - - - - - - - Qualitative or quantitative defects of filamin C - - - - - - - - Qualitative or quantitative defects of protein ZASP - - - - - - - - Qualitative or quantitative defects of titin - - - - - - - - Qualitative or quantitative defects of telethonin - - - - - - - - Qualitative or quantitative defects of alpha-actin - - - - - - - - Qualitative or quantitative defects of nebulin - - - - - - - - Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) - - - - - - - - Qualitative or quantitative defects of emerin - - - - - - - - Qualitative or quantitative defects of selenoprotein N1 - - - - - - - - Qualitative or quantitative defects of plectin - - - - - - - - Qualitative or quantitative defects of protein SERCA1 - - - - - - - - Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - - - - - - - - - Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome - - - - - - - - Myotilinopathy - - - - - - - - Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - - - - - - - - Idiopathic uveal effusion syndrome - - - - - - - - Phacoanaphylactic uveitis - - - - - - - - Solitary rectal ulcer syndrome - - - - - - - - Benign nocturnal alternating hemiplegia of childhood - - - - - - - - Alternating hemiplegia - - - - - - - - Non-papillary transitional cell carcinoma of the bladder - - - - - - - - Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome - - - - - - - - Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome - - - - - - - - Ectodermal dysplasia-blindness syndrome - - - - - - - - Congenital temporomandibular joint ankylosis - - - - - - - - Temporomandibular joint anomaly - - - - - - - - Spindle cell hemangioma - - - - - - - - Infantile hemangioma of rare localization - - - - - - - - Autosomal dominant proximal spinal muscular atrophy - - - - - - - - Specific learning disability - - - - - - - - Specific language disorder - - - - - - - - Hereditary episodic ataxia - - - - - - - - Rare vascular tumor - - - - - - - - Genetic vascular anomaly - - - - - - - - Simple vascular malformation - - - - - - - - Rare capillary malformation - - - - - - - - Rare venous malformation - - - - - - - - Rare lymphatic system anomaly - - - - - - - - Rare arteriovenous malformation - - - - - - - - Complex vascular malformation with associated anomalies - - - - - - - - Adenocarcinoma of ovary - - - - - - - - Familial ovarian cancer - - - - - - - - Hereditary site-specific ovarian cancer syndrome - - - - - - - - Rare uterine cancer - - - - - - - - Rare cancer of corpus uteri - - - - - - - - Rare variants of adenocarcinoma of the corpus uteri - - - - - - - - Malignant mixed epithelial and mesenchymal tumor of corpus uteri - - - - - - - - Adenosarcoma of the corpus uteri - - - - - - - - Carcinofibroma of the corpus uteri - - - - - - - - Rhabdomyosarcoma of the corpus uteri - - - - - - - - Sarcoma of the corpus uteri - - - - - - - - Leiomyosarcoma of the corpus uteri - - - - - - - - Primitive neuroectodermal tumor of the corpus uteri - - - - - - - - Squamous cell carcinoma of the corpus uteri - - - - - - - - Autosomal dominant hypohidrotic ectodermal dysplasia - - - - - - - - Undifferentiated carcinoma of the corpus uteri - - - - - - - - Serous carcinoma of the corpus uteri - - - - - - - - High-grade neuroendocrine carcinoma of the corpus uteri - - - - - - - - Low-grade neuroendocrine tumor of the corpus uteri - - - - - - - - Transitional cell carcinoma of the corpus uteri - - - - - - - - Malignant germ cell tumor of the corpus uteri - - - - - - - - Rare cancer of cervix uteri - - - - - - - - Squamous cell carcinoma of the cervix uteri - - - - - - - - Adenocarcinoma of the cervix uteri - - - - - - - - High-grade neuroendocrine carcinoma of the cervix uteri - - - - - - - - Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome - - - - - - - - Malignant mixed epithelial and mesenchymal tumor of cervix uteri - - - - - - - - Carcinosarcoma of the cervix uteri - - - - - - - - Adenosarcoma of the cervix uteri - - - - - - - - Sarcoma of cervix uteri - - - - - - - - Rhabdomyosarcoma of the cervix uteri - - - - - - - - Leiomyosarcoma of the cervix uteri - - - - - - - - Primitive neuroectodermal tumor of the cervix uteri - - - - - - - - Papillary carcinoma of the cervix uteri - - - - - - - - Adenoid cystic carcinoma of the cervix uteri - - - - - - - - Adenoid basal carcinoma of the cervix uteri - - - - - - - - Glassy cell carcinoma of the cervix uteri - - - - - - - - Malignant germ cell tumor of the cervix uteri - - - - - - - - Isolated congenitally uncorrected transposition of the great arteries - - - - - - - - Congenitally uncorrected transposition of the great arteries with cardiac malformation - - - - - - - - Niemann-Pick disease type C, severe perinatal form - - - - - - - - Niemann-Pick disease type C, severe early infantile neurologic onset - - - - - - - - Niemann-Pick disease type C, late infantile neurologic onset - - - - - - - - Niemann-Pick disease type C, juvenile neurologic onset - - - - - - - - Niemann-Pick disease type C, adult neurologic onset - - - - - - - - 5-fluorouracil poisoning - - - - - - - - Pouchitis - - - - - - - - Rare carcinoma of pancreas - - - - - - - - Pulmonary fungal infections in patients deemed at risk - - - - - - - - NMDA receptor encephalitis - - - - - - - - Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation - - - - - - - - Rare hereditary thrombophilia - - - - - - - - Pulmonary interstitial glycogenosis - - - - - - - - Neuroendocrine cell hyperplasia of infancy - - - - - - - - Rare hypertrophic cardiomyopathy - - - - - - - - Glycogen storage disease with hypertrophic cardiomyopathy - - - - - - - - Lysosomal disease with hypertrophic cardiomyopathy - - - - - - - - Mitochondrial disease with hypertrophic cardiomyopathy - - - - - - - - Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy - - - - - - - - Syndrome associated with hypertrophic cardiomyopathy - - - - - - - - Non-familial hypertrophic cardiomyopathy - - - - - - - - Familial dilated cardiomyopathy - - - - - - - - Neuromuscular disease with dilated cardiomyopathy - - - - - - - - Mitochondrial disease with dilated cardiomyopathy - - - - - - - - Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy - - - - - - - - Syndrome associated with dilated cardiomyopathy - - - - - - - - Non-familial dilated cardiomyopathy - - - - - - - - Restrictive cardiomyopathy - - - - - - - - Familial restrictive cardiomyopathy - - - - - - - - Lysosomal disease with restrictive cardiomyopathy - - - - - - - - Unclassified cardiomyopathy - - - - - - - - Non-familial restrictive cardiomyopathy - - - - - - - - Rare cardiac rhythm disease - - - - - - - - Non-genetic cardiac rhythm disease - - - - - - - - Macrothrombocytopenia with mitral valve insufficiency - - - - - - - - Isolated hereditary giant platelet disorder - - - - - - - - Rare hereditary hemochromatosis - - - - - - - - Combined hyperactive dysfunction syndrome of the cranial nerves - - - - - - - - Cranial neuralgia - - - - - - - - Acquired peripheral movement disorder - - - - - - - - Confetti-like macular atrophy - - - - - - - - Hereditary poikiloderma - - - - - - - - Mitochondrial oxidative phosphorylation disorder - - - - - - - - Bone sarcoma - - - - - - - - Lymphoma - - - - - - - - Sporadic infantile bilateral striatal necrosis - - - - - - - - Ectodermal dysplasia, trichoodontoonychial type - - - - - - - - Lysosomal disease with epilepsy - - - - - - - - Peroxisomal disease with epilepsy - - - - - - - - Amino acid or protein metabolism disease with epilepsy - - - - - - - - Metal transport or utilization disorder with epilepsy - - - - - - - - Energy metabolism disorder with epilepsy - - - - - - - - Mitochondrial disease with epilepsy - - - - - - - - Mitochondrial disease with peripheral neuropathy - - - - - - - - Metabolic neurotransmission anomaly with epilepsy - - - - - - - - Sterol metabolism disorder with epilepsy - - - - - - - - Other metabolic disease with epilepsy - - - - - - - - Hidrotic ectodermal dysplasia - - - - - - - - Permanent congenital hypothyroidism - - - - - - - - Primary congenital hypothyroidism - - - - - - - - Hypothyroidism due to deficient transcription factors involved in pituitary development or function - - - - - - - - Congenital hypothyroidism due to maternal intake of antithyroid drugs - - - - - - - - Genetic transient congenital hypothyroidism - - - - - - - - Multiple system atrophy, cerebellar type - - - - - - - - Toxic oil syndrome - - - - - - - - Autoimmune polyendocrinopathy type 4 - - - - - - - - Anal fistula - - - - - - - - Hughes-Stovin syndrome - - - - - - - - Autosomal recessive hypohidrotic ectodermal dysplasia - - - - - - - - Fusariosis - - - - - - - - Multiple sclerosis variant - - - - - - - - Marburg acute multiple sclerosis - - - - - - - - Heart-hand syndrome - - - - - - - - Genetic dermis elastic tissue disorder - - - - - - - - Acquired dermis elastic tissue disorder - - - - - - - - Acquired dermis elastic tissue disorder with decreased elastic tissue - - - - - - - - Acquired dermis elastic tissue disorder with increased elastic tissue - - - - - - - - Late-onset focal dermal elastosis - - - - - - - - Linear focal elastosis - - - - - - - - Elastofibroma dorsi - - - - - - - - Acquired pseudoxanthoma elasticum - - - - - - - - Elastoma - - - - - - - - Papular elastorrhexis - - - - - - - - Primary anetoderma - - - - - - - - Familial anetoderma - - - - - - - - Acquired cutis laxa - - - - - - - - White fibrous papulosis of the neck - - - - - - - - Pseudoxanthoma elasticum-like papillary dermal elastolysis - - - - - - - - Mid-dermal elastolysis - - - - - - - - Autoimmune hemolytic anemia, cold type - - - - - - - - Foodborne botulism - - - - - - - - Virus-associated trichodysplasia spinulosa - - - - - - - - Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome - - - - - - - - Polyvalvular heart disease syndrome - - - - - - - - 5q35 microduplication syndrome - - - - - - - - Syndromic agammaglobulinemia - - - - - - - - Toxin-mediated infectious botulism - - - - - - - - High-grade dysplasia in patients with Barrett esophagus - - - - - - - - Drug-induced lupus erythematosus - - - - - - - - Nephronophthisis - - - - - - - - - Ectopia lentis 2, isolated, autosomal recessive - - - - - - - - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - - - - - - - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - - - - - - - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - - - - - - - Silver-Russell syndrome due to 7p11.2p13 microduplication - - - - - - - - Silver-Russell syndrome due to an imprinting defect of 11p15 - - - - - - - - Silver-Russell syndrome due to 11p15 microduplication - - - - - - - - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - - - - - - - - Beta-thalassemia associated with another hemoglobin anomaly - - - - - - - - Hemoglobin C-beta-thalassemia syndrome - - - - - - - - Hemoglobin E-beta-thalassemia syndrome - - - - - - - - Beta-thalassemia with other manifestations - - - - - - - - Variant of Guillain-Barré syndrome - - - - - - - - Regional variant of Guillain-Barré syndrome - - - - - - - - Functional variant of Guillain-Barré syndrome - - - - - - - - Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome - - - - - - - - Paraparetic variant of Guillain-Barré syndrome - - - - - - - - Acute pure sensory neuropathy - - - - - - - - Acute pandysautonomia - - - - - - - - Acute sensory ataxic neuropathy - - - - - - - - Congenital erosive and vesicular dermatosis - - - - - - - - Primary unilateral adrenal hyperplasia - - - - - - - - Adrenocortical carcinoma with pure aldosterone hypersecretion - - - - - - - - Ectopic aldosterone-producing tumor - - - - - - - - Rare surgically correctable form of primary aldosteronism - - - - - - - - Rare non surgically correctable form of primary aldosteronism - - - - - - - - Epibulbar lipodermoid-preauricular appendage-polythelia syndrome - - - - - - - - Infectious embryofetopathy - - - - - - - - Syndrome with alpha-thalassemia as a major feature - - - - - - - - Rare genetic vascular disease - - - - - - - - Congenital vascular bone syndrome - - - - - - - - Familial hyperaldosteronism - - - - - - - - AApoAII amyloidosis - - - - - - - - Infundibulo-neurohypophysitis - - - - - - - - Lymphoproliferative syndrome - - - - - - - - Hypotonia-cystinuria type 1 syndrome - - - - - - - - Congenital secondary polycythemia - - - - - - - - Acquired secondary polycythemia - - - - - - - - Ileal pouch anal anastomosis related faecal incontinence - - - - - - - - Megacystis-megaureter syndrome - - - - - - - - Primary megaureter, adult-onset form - - - - - - - - Congenital primary megaureter, obstructed form - - - - - - - - Congenital primary megaureter, refluxing form - - - - - - - - Congenital primary megaureter, nonrefluxing and unobstructed form - - - - - - - - Isolated congenital hypogonadotropic hypogonadism - - - - - - - - Neonatal iodine exposure - - - - - - - - Transient congenital hypothyroidism due to maternal factor - - - - - - - - Transient congenital hypothyroidism due to neonatal factor - - - - - - - - Progressive supranuclear palsy-pure akinesia with gait freezing syndrome - - - - - - - - Progressive supranuclear palsy-corticobasal syndrome - - - - - - - - Progressive supranuclear palsy-progressive non-fluent aphasia syndrome - - - - - - - - Syndromic obesity - - - - - - - - De novo thrombotic microangiopathy after kidney transplantation - - - - - - - - Biliary atresia with splenic malformation syndrome - - - - - - - - Infantile mercury poisoning - - - - - - - - Sporadic adult-onset ataxia of unknown etiology - - - - - - - - Non-hereditary degenerative ataxia - - - - - - - - Acquired ataxia - - - - - - - - Inhalational anthrax - - - - - - - - Autosomal recessive secondary polycythemia not associated with VHL gene - - - - - - - - Acute neonatal citrullinemia type I - - - - - - - - Adult-onset citrullinemia type I - - - - - - - - Citrin deficiency - - - - - - - - Prenatal benign hypophosphatasia - - - - - - - - Inflammatory myopathy with abundant macrophages - - - - - - - - Idiopathic eosinophilic myositis - - - - - - - - X-linked cerebellar ataxia - - - - - - - - Autosomal recessive ataxia due to PEX10 deficiency - - - - - - - - Primary hypertrophic osteoarthropathy - - - - - - - - Rare deficiency anemia - - - - - - - - Constitutional deficiency anemia - - - - - - - - Rare acquired deficiency anemia - - - - - - - - Rare hemorrhagic disorder - - - - - - - - Rare hemorrhagic disorder due to a coagulation factors defect - - - - - - - - Rare hemorrhagic disorder due to a platelet anomaly - - - - - - - - Isolated delta-storage pool disease - - - - - - - - Rare hemorrhagic disorder due to an acquired platelet anomaly - - - - - - - - Rare thrombotic disorder due to a coagulation factors defect - - - - - - - - Rare thrombotic disorder due to a constitutional coagulation factors defect - - - - - - - - Rare thrombotic disorder due to an acquired coagulation factors defect - - - - - - - - Rare thrombotic disorder due to a platelet anomaly - - - - - - - - Ectrodactyly-polydactyly syndrome - - - - - - - - Rare thrombotic disorder due to a constitutional platelet anomaly - - - - - - - - Rare thrombotic disorder due to an acquired platelet anomaly - - - - - - - - Genetic polycythemia - - - - - - - - Serpinopathy - - - - - - - - Serpinopathy with toxic serpin polymerization - - - - - - - - Serpinopathy with loss of serpin function - - - - - - - - Autosomal dominant optic atrophy and peripheral neuropathy - - - - - - - - Polymicrogyria with optic nerve hypoplasia - - - - - - - - Paternal uniparental disomy of chromosome 1 - - - - - - - - Maternal uniparental disomy of chromosome 1 - - - - - - - - 2q31.1 microdeletion syndrome - - - - - - - - 6p22 microdeletion syndrome - - - - - - - - 7q31 microdeletion syndrome - - - - - - - - 8p11.2 deletion syndrome - - - - - - - - Infantile onset panniculitis with uveitis and systemic granulomatosis - - - - - - - - Idiopathic recurrent pericarditis - - - - - - - - Overlapping connective tissue disease - - - - - - - - Drug-induced vasculitis - - - - - - - - Unclassified vasculitis - - - - - - - - Unexplained long-lasting fever/inflammatory syndrome - - - - - - - - Alveolar echinococcosis - - - - - - - - Sickle cell-hemoglobin E disease syndrome - - - - - - - - Toxic or drug-related embryofetopathy - - - - - - - - Maternal disease-related embryofetopathy - - - - - - - - Rare tumor of neuroepithelial tissue - - - - - - - - High-grade astrocytoma - - - - - - - - Giant cell glioblastoma - - - - - - - - Low-grade astrocytoma - - - - - - - - Protoplasmic astrocytoma - - - - - - - - Fibrillary astrocytoma - - - - - - - - Gemistocytic astrocytoma - - - - - - - - Blepharo-cheilo-odontic syndrome - - - - - - - - Pilomyxoid astrocytoma - - - - - - - - Pituicytoma - - - - - - - - Oligoastrocytic tumor - - - - - - - - Glial tumor of neuroepithelial tissue with unknown origin - - - - - - - - Angiocentric glioma - - - - - - - - Chordoid glioma - - - - - - - - Embryonal tumor of neuroepithelial tissue - - - - - - - - Anaplastic/large cell medulloblastoma - - - - - - - - Central nervous system embryonal tumor - - - - - - - - Ganglioneuroblastoma - - - - - - - - Ependymoblastoma - - - - - - - - Medulloepithelioma of the central nervous system - - - - - - - - Choroid plexus tumor - - - - - - - - Atypical papilloma of choroid plexus - - - - - - - - Pineal tumor of neuroepithelial tissue - - - - - - - - Papillary tumor of the pineal region - - - - - - - - Neuronal tumor - - - - - - - - Extraventricular neurocytoma - - - - - - - - Mixed neuronal-glial tumor - - - - - - - - Desmoplastic infantile astrocytoma/ganglioglioma - - - - - - - - Papillary glioneuronal tumor - - - - - - - - Ganglioneuroma - - - - - - - - Primary germ cell tumor of central nervous system - - - - - - - - Yolk sac tumor of central nervous system - - - - - - - - Choriocarcinoma of the central nervous system - - - - - - - - Teratoma of the central nervous system - - - - - - - - Mixed germ cell tumor of central nervous system - - - - - - - - Tumor of meninges - - - - - - - - Primary melanocytic tumor of central nervous system - - - - - - - - Diffuse leptomeningeal melanocytosis - - - - - - - - Edinburgh malformation syndrome - - - - - - - - Meningeal melanocytoma - - - - - - - - Malignant peripheral nerve sheath tumor with perineurial differentiation - - - - - - - - Inherited nervous system cancer-predisposing syndrome - - - - - - - - Malignant triton tumor - - - - - - - - Rare cutaneous lichen planus - - - - - - - - Rare mucosal lichen planus - - - - - - - - Inhalational botulism - - - - - - - - Iatrogenic botulism - - - - - - - - Gestational trophoblastic disease - - - - - - - - Partial hydatidiform mole - - - - - - - - Epithelioid trophoblastic tumor - - - - - - - - Genetic hyperferritinemia without iron overload - - - - - - - - Pyruvate metabolism disorder - - - - - - - - Tricarboxylic acid cycle disorder - - - - - - - - Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies - - - - - - - - Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA - - - - - - - - Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA - - - - - - - - Mitochondrial DNA-related mitochondrial myopathy - - - - - - - - Multiple mitochondrial DNA deletion syndrome - - - - - - - - Ataxia neuropathy spectrum - - - - - - - - EEC syndrome - - - - - - - - Mitochondrial oxidative phosphorylation disorder with no known mechanism - - - - - - - - Mitochondrial membrane transport disorder - - - - - - - - Mitochondrial substrate carrier disorder - - - - - - - - Mitochondrial protein import disorder - - - - - - - - Unspecified mitochondrial disorder - - - - - - - - Exercise intolerance with lactic acidosis - - - - - - - - Isolated oxidative phosphorylation complex disorder - - - - - - - - Mitochondrial DNA-related dystonia - - - - - - - - Pure mitochondrial myopathy - - - - - - - - Mitochondrial DNA depletion syndrome, hepatocerebral form - - - - - - - - Distal 7q11.23 microduplication syndrome - - - - - - - - FOXG1 syndrome due to 14q12 microdeletion - - - - - - - - 16p11.2p12.2 microduplication syndrome - - - - - - - - 14q11.2 microduplication syndrome - - - - - - - - 16p13.11 microdeletion syndrome - - - - - - - - 16p13.11 microduplication syndrome - - - - - - - - Distal 17p13.3 microdeletion syndrome - - - - - - - - Paternal 20q13.2q13.3 microdeletion syndrome - - - - - - - - 20q13.33 microdeletion syndrome - - - - - - - - 21q22.11q22.12 microdeletion syndrome - - - - - - - - EEM syndrome - - - - - - - - Distal 22q11.2 microduplication syndrome - - - - - - - - Trisomy 1q - - - - - - - - Atypical Norrie disease due to Xp11.3 microdeletion - - - - - - - - Maternal uniparental disomy of chromosome X - - - - - - - - Paternal uniparental disomy of chromosome X - - - - - - - - Ring chromosome Y syndrome - - - - - - - - Familial adenomatous polyposis due to 5q22.2 microdeletion - - - - - - - - Okihiro syndrome due to 20q13 microdeletion - - - - - - - - Okihiro syndrome due to a point mutation - - - - - - - - Partial deletion of chromosome 1 - - - - - - - - Partial deletion of chromosome 2 - - - - - - - - Partial deletion of chromosome 3 - - - - - - - - Partial deletion of chromosome 4 - - - - - - - - Partial deletion of chromosome 5 - - - - - - - - Partial deletion of chromosome 6 - - - - - - - - Partial deletion of chromosome 7 - - - - - - - - Partial deletion of chromosome 8 - - - - - - - - Partial deletion of chromosome 9 - - - - - - - - Partial deletion of chromosome 10 - - - - - - - - Partial deletion of chromosome 11 - - - - - - - - Partial deletion of the long arm of chromosome 12 - - - - - - - - Partial deletion of chromosome 16 - - - - - - - - Partial deletion of chromosome 17 - - - - - - - - Partial deletion of chromosome 18 - - - - - - - - Partial deletion of chromosome 19 - - - - - - - - Partial deletion of chromosome 20 - - - - - - - - Partial deletion of the short arm of chromosome 1 - - - - - - - - Partial deletion of the short arm of chromosome 2 - - - - - - - - Partial deletion of the short arm of chromosome 4 - - - - - - - - Partial deletion of the short arm of chromosome 5 - - - - - - - - Hypermobile Ehlers-Danlos syndrome - - - - - - - - Partial deletion of the short arm of chromosome 6 - - - - - - - - Partial deletion of the short arm of chromosome 7 - - - - - - - - Partial deletion of the short arm of chromosome 8 - - - - - - - - Partial deletion of the short arm of chromosome 9 - - - - - - - - Partial deletion of the short arm of chromosome 10 - - - - - - - - Partial deletion of the short arm of chromosome 11 - - - - - - - - Partial deletion of the short arm of chromosome 16 - - - - - - - - Partial monosomy of the short arm of chromosome 17 - - - - - - - - Partial deletion of the short arm of chromosome 18 - - - - - - - - Partial deletion of the short arm of chromosome 19 - - - - - - - - Vascular Ehlers-Danlos syndrome - - - - - - - - Partial monosomy of the short arm of chromosome 20 - - - - - - - - Partial deletion of the long arm of chromosome 1 - - - - - - - - Partial deletion of the long arm of chromosome 2 - - - - - - - - Partial deletion of the long arm of chromosome 3 - - - - - - - - Partial deletion of the long arm of chromosome 4 - - - - - - - - Partial deletion of the long arm of chromosome 5 - - - - - - - - Partial deletion of the long arm of chromosome 6 - - - - - - - - Partial deletion of the long arm of chromosome 7 - - - - - - - - Partial deletion of the long arm of chromosome 8 - - - - - - - - Partial monosomy of the long arm of chromosome 9 - - - - - - - - Kyphoscoliotic Ehlers-Danlos syndrome - - - - - - - - Partial monosomy of the long arm of chromosome 10 - - - - - - - - Partial deletion of the long arm of chromosome 11 - - - - - - - - Partial deletion of the long arm of chromosome 13 - - - - - - - - Partial deletion of the long arm of chromosome 14 - - - - - - - - Partial deletion of the long arm of chromosome 15 - - - - - - - - Partial deletion of the long arm of chromosome 16 - - - - - - - - Partial deletion of the long arm of chromosome 17 - - - - - - - - Partial deletion of the long arm of chromosome 18 - - - - - - - - Partial deletion of the long arm of chromosome 19 - - - - - - - - Partial deletion of the long arm of chromosome 20 - - - - - - - - Arthrochalasia Ehlers-Danlos syndrome - - - - - - - - Partial deletion of the long arm of chromosome 21 - - - - - - - - Partial deletion of the long arm of chromosome 22 - - - - - - - - Partial duplication of chromosome 1 - - - - - - - - Partial duplication of chromosome 2 - - - - - - - - Partial duplication of chromosome 3 - - - - - - - - Partial duplication of chromosome 4 - - - - - - - - Partial trisomy/tetrasomy of chromosome 5 - - - - - - - - Partial duplication of chromosome 6 - - - - - - - - Partial duplication of chromosome 7 - - - - - - - - Partial duplication of chromosome 8 - - - - - - - - Partial trisomy/tetrasomy of chromosome 9 - - - - - - - - Partial duplication of chromosome 10 - - - - - - - - Partial duplication of chromosome 11 - - - - - - - - Partial trisomy/tetrasomy of the short arm of chromosome 12 - - - - - - - - Partial duplication of chromosome 16 - - - - - - - - Partial duplication of chromosome 17 - - - - - - - - Partial trisomy/tetrasomy of chromosome 18 - - - - - - - - Partial duplication of chromosome 19 - - - - - - - - Partial trisomy of chromosome 20 - - - - - - - - Partial duplication of the short arm of chromosome 2 - - - - - - - - Partial duplication of the short arm of chromosome 3 - - - - - - - - Partial duplication of the short arm of chromosome 4 - - - - - - - - Partial trisomy/tetrasomy of the short arm of chromosome 5 - - - - - - - - Partial duplication of the short arm of chromosome 6 - - - - - - - - Partial duplication of the short arm of chromosome 7 - - - - - - - - Partial duplication of the short arm of chromosome 8 - - - - - - - - Partial trisomy/tetrasomy of the short arm of chromosome 9 - - - - - - - - Partial duplication of the short arm of chromosome 10 - - - - - - - - Partial duplication of the short arm of chromosome 11 - - - - - - - - Partial duplication of the short arm of chromosome 16 - - - - - - - - Partial duplication of the short arm of chromosome 17 - - - - - - - - Partial trisomy/tetrasomy of the short arm of chromosome 18 - - - - - - - - Partial duplication of the long arm of chromosome 1 - - - - - - - - Partial duplication of the long arm of chromosome 2 - - - - - - - - Partial duplication of the long arm of chromosome 3 - - - - - - - - Partial duplication of the long arm of chromosome 4 - - - - - - - - Partial trisomy of the long arm of chromosome 5 - - - - - - - - Partial duplication of the long arm of chromosome 6 - - - - - - - - Partial duplication of the long arm of chromosome 7 - - - - - - - - Partial duplication of the long arm of chromosome 8 - - - - - - - - Classical Ehlers-Danlos syndrome - - - - - - - - Partial trisomy of the long arm of chromosome 9 - - - - - - - - Partial duplication of the long arm of chromosome 10 - - - - - - - - Partial duplication of the long arm of chromosome 11 - - - - - - - - Partial duplication of the long arm of chromosome 13 - - - - - - - - Partial duplication of the long arm of chromosome 14 - - - - - - - - Partial duplication of the long arm of chromosome 15 - - - - - - - - Partial trisomy of the long arm of chromosome 16 - - - - - - - - Partial duplication of the long arm of chromosome 17 - - - - - - - - Partial trisomy of the long arm of chromosome 18 - - - - - - - - Partial duplication of the long arm of chromosome 19 - - - - - - - - Dermatosparaxis Ehlers-Danlos syndrome - - - - - - - - Partial trisomy of the long arm of chromosome 20 - - - - - - - - Partial duplication of the long arm of chromosome 22 - - - - - - - - Thymoma type A - - - - - - - - Thymoma type B - - - - - - - - Thymoma type AB - - - - - - - - Well-differentiated thymic neuroendocrine carcinoma - - - - - - - - Moderately-differentiated thymic neuroendocrine carcinoma - - - - - - - - Poorly differentiated thymic neuroendocrine carcinoma - - - - - - - - Postcardiotomy right ventricular failure - - - - - - - - Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome - - - - - - - - Angiosarcoma - - - - - - - - Nevus of Ota - - - - - - - - Congenital smooth muscle hamartoma - - - - - - - - Hyperinsulinism due to HNF4A deficiency - - - - - - - - Peeling skin syndrome type C - - - - - - - - NK-cell enteropathy - - - - - - - - Complex chromosomal rearrangement - - - - - - - - X chromosome number anomaly - - - - - - - - X chromosome number anomaly with female phenotype - - - - - - - - X chromosome number anomaly with male phenotype - - - - - - - - Polysomy of X chromosome - - - - - - - - Partial deletion of chromosome X - - - - - - - - Partial monosomy of the short arm of chromosome X - - - - - - - - Y chromosome number anomaly - - - - - - - - X and Y chromosomal anomaly - - - - - - - - Partial deletion of the long arm of chromosome X - - - - - - - - Partial duplication of chromosome X - - - - - - - - Partial duplication of the long arm of chromosome X - - - - - - - - Uniparental disomy of chromosome X - - - - - - - - Partial duplication of the short arm of chromosome 1 - - - - - - - - Ehrlichiosis - - - - - - - - Trisomy 8p - - - - - - - - Interstitial lung disease specific to childhood - - - - - - - - Primary interstitial lung disease specific to childhood due to alveolar structure disorder - - - - - - - - Primary interstitial lung disease specific to childhood due to alveolar vascular disorder - - - - - - - - Isolated pulmonary capillaritis - - - - - - - - Interstitial lung disease specific to infancy - - - - - - - - Secondary interstitial lung disease specific to childhood associated with a systemic disease - - - - - - - - Secondary interstitial lung disease specific to childhood associated with a connective tissue disease - - - - - - - - Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis - - - - - - - - Secondary interstitial lung disease specific to childhood associated with a granulomatous disease - - - - - - - - Secondary interstitial lung disease specific to childhood associated with a metabolic disease - - - - - - - - Interstitial lung disease specific to adulthood - - - - - - - - Primary interstitial lung disease specific to adulthood - - - - - - - - Secondary interstitial lung disease specific to adulthood associated with a systemic disease - - - - - - - - Interstitial lung disease in childhood and adulthood - - - - - - - - Primary interstitial lung disease in childhood and adulthood - - - - - - - - Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder - - - - - - - - Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder - - - - - - - - Secondary interstitial lung disease in childhood and adulthood - - - - - - - - Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease - - - - - - - - Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease - - - - - - - - Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis - - - - - - - - Drug or radiation exposure-related interstitial lung disease - - - - - - - - Exposure-related interstitial lung disease - - - - - - - - Genetic interstitial lung disease - - - - - - - - Intraocular medulloepithelioma - - - - - - - - Mycophenolate mofetil embryopathy - - - - - - - - DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion - - - - - - - - Complication in hemodialysis - - - - - - - - Open iniencephaly - - - - - - - - Closed iniencephaly - - - - - - - - Spina bifida aperta - - - - - - - - Total spina bifida aperta - - - - - - - - Thoracolumbosacral spina bifida aperta - - - - - - - - Lumbosacral spina bifida aperta - - - - - - - - Cervical spina bifida aperta - - - - - - - - Cervicothoracic spina bifida aperta - - - - - - - - Upper thoracic spina bifida aperta - - - - - - - - Spina bifida cystica - - - - - - - - Total spina bifida cystica - - - - - - - - Acrocephalopolydactyly - - - - - - - - Thoracolumbosacral spina bifida cystica - - - - - - - - Lumbosacral spina bifida cystica - - - - - - - - Cervical spina bifida cystica - - - - - - - - Cervicothoracic spina bifida cystica - - - - - - - - Upper thoracic spina bifida cystica - - - - - - - - Posterior meningocele - - - - - - - - Myelocystocele - - - - - - - - Cephalocele - - - - - - - - Cranial meningocele - - - - - - - - Occipital encephalocele - - - - - - - - Parietal encephalocele - - - - - - - - Basal encephalocele - - - - - - - - Lipoma associated with neurospinal dysraphism - - - - - - - - Leptomyelolipoma - - - - - - - - Malformation of the neurenteric canal, spinal cord and column - - - - - - - - Neurenteric cyst - - - - - - - - Isolated amyelia - - - - - - - - Isolated megalencephaly - - - - - - - - Midline cerebral malformation - - - - - - - - Isolated arhinencephaly - - - - - - - - Microcephaly-cardiac defect-lung malsegmentation syndrome - - - - - - - - Unilateral polymicrogyria - - - - - - - - Unilateral focal polymicrogyria - - - - - - - - Cerebral cortical dysplasia - - - - - - - - Isolated focal cortical dysplasia type I - - - - - - - - Isolated focal cortical dysplasia type Ia - - - - - - - - Isolated focal cortical dysplasia type Ib - - - - - - - - Isolated focal cortical dysplasia type Ic - - - - - - - - Encephaloclastic disorder - - - - - - - - Central nervous system cystic malformation - - - - - - - - Glioependymal/ependymal cyst - - - - - - - - Isolated cerebellar vermis agenesis - - - - - - - - Isolated total cerebellar vermis agenesis - - - - - - - - Isolated partial cerebellar vermis agenesis - - - - - - - - Isolated Dandy-Walker malformation with hydrocephalus - - - - - - - - Isolated Dandy-Walker malformation without hydrocephalus - - - - - - - - Isolated unilateral hemispheric cerebellar hypoplasia - - - - - - - - Isolated bilateral hemispheric cerebellar hypoplasia - - - - - - - - Global cerebellar malformation - - - - - - - - Congenital communicating hydrocephalus - - - - - - - - Syndrome with a cerebellar malformation as a major feature - - - - - - - - Syndrome with microcephaly as a major feature - - - - - - - - Other syndrome with a central nervous system malformation as a major feature - - - - - - - - Syndrome with a Dandy-Walker malformation as a major feature - - - - - - - - Genetic non-syndromic central nervous system malformation - - - - - - - - Genetic cerebral malformation - - - - - - - - Genetic posterior fossa malformation - - - - - - - - Genetic cerebellar malformation - - - - - - - - Genetic syndrome with a central nervous system malformation as a major feature - - - - - - - - Genetic syndrome with a cerebellar malformation as a major feature - - - - - - - - Genetic syndrome with a Dandy-Walker malformation as a major feature - - - - - - - - Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature - - - - - - - - Genetic soft tissue tumor - - - - - - - - Genetic digestive tract tumor - - - - - - - - Genetic cardiac tumor - - - - - - - - Genetic urogenital tumor - - - - - - - - Genetic neuroendocrine tumor - - - - - - - - Genetic cardiac anomaly - - - - - - - - Hereditary ATTR amyloidosis - - - - - - - - Rare genetic systemic or rheumatologic disease - - - - - - - - Rare hemorrhagic disorder due to a constitutional thrombocytopenia - - - - - - - - X-linked Emery-Dreifuss muscular dystrophy - - - - - - - - Rare hemorrhagic disorder due to a qualitative platelet defect - - - - - - - - Genetic infertility - - - - - - - - Alpha-thalassemia and related disorders - - - - - - - - Beta-thalassemia and related diseases - - - - - - - - Sickle cell disease and related diseases - - - - - - - - Idiopathic pulmonary arterial hypertension - - - - - - - - Drug- or toxin-induced pulmonary arterial hypertension - - - - - - - - Pulmonary arterial hypertension associated with another disease - - - - - - - - Pulmonary arterial hypertension associated with connective tissue disease - - - - - - - - Pulmonary arterial hypertension associated with congenital heart disease - - - - - - - - Pulmonary arterial hypertension associated with HIV infection - - - - - - - - Pulmonary arterial hypertension associated with portal hypertension - - - - - - - - Pulmonary arterial hypertension associated with schistosomiasis - - - - - - - - Pulmonary arterial hypertension associated with chronic hemolytic anemia - - - - - - - - Pulmonary hypertension owing to lung disease and/or hypoxia - - - - - - - - Pulmonary hypertension with unclear multifactorial mechanism - - - - - - - - Syndrome with pulmonary hypertension as a major feature - - - - - - - - Hemolytic disease due to fetomaternal alloimmunization - - - - - - - - Hemolytic disease of the newborn with Kell alloimmunization - - - - - - - - Genetic neurodegenerative disease with dementia - - - - - - - - Congenital lobar emphysema - - - - - - - - Genetic frontotemporal degeneration with dementia - - - - - - - - Bile acid CoA ligase deficiency and defective amidation - - - - - - - - Rare tumor of salivary glands - - - - - - - - Malignant epithelial tumor of salivary glands - - - - - - - - Multiple endocrine neoplasia - - - - - - - - Idiopathic recurrent stupor - - - - - - - - Mucopolysaccharidosis type 6, rapidly progressing - - - - - - - - Mucopolysaccharidosis type 6, slowly progressing - - - - - - - - Machado-Joseph disease type 1 - - - - - - - - Machado-Joseph disease type 2 - - - - - - - - Machado-Joseph disease type 3 - - - - - - - - Hemihyperplasia-multiple lipomatosis syndrome - - - - - - - - 10q22.3q23.3 microduplication syndrome - - - - - - - - Familial hyperinsulinism - - - - - - - - Hyperinsulinism due to UCP2 deficiency - - - - - - - - Diazoxide-resistant hyperinsulinism - - - - - - - - Non-insulinoma pancreatogenous hypoglycemia syndrome - - - - - - - - Symptomatic form of Coffin-Lowry syndrome in female carriers - - - - - - - - Spasmus nutans - - - - - - - - Acute endophthalmitis - - - - - - - - Chronic endophthalmitis - - - - - - - - Toxic maculopathy due to antimalarial drugs - - - - - - - - Primary oculocerebral lymphoma - - - - - - - - Primary intraocular lymphoma - - - - - - - - Primary organ-specific lymphoma - - - - - - - - Intermediate uveitis - - - - - - - - Infectious posterior uveitis - - - - - - - - Infectious anterior uveitis - - - - - - - - Infectious panuveitis - - - - - - - - Paraneoplastic uveitis - - - - - - - - Calciphylaxis cutis - - - - - - - - Visceral calciphylaxis - - - - - - - - Laryngotracheoesophageal cleft type 0 - - - - - - - - Pelizaeus-Merzbacher disease, classic form - - - - - - - - Pelizaeus-Merzbacher disease, transitional form - - - - - - - - Pelizaeus-Merzbacher disease in female carriers - - - - - - - - Autoimmune pancreatitis type 1 - - - - - - - - Autoimmune pancreatitis type 2 - - - - - - - - Distal monosomy 12p - - - - - - - - Rare systemic or rheumatological disease of childhood - - - - - - - - Encephalocraniocutaneous lipomatosis - - - - - - - - Autosomal semi-dominant severe lipodystrophic laminopathy - - - - - - - - Rare pediatric vasculitis - - - - - - - - Rare pediatric systemic disease - - - - - - - - Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome - - - - - - - - Familial Alzheimer-like prion disease - - - - - - - - Inherited human prion disease - - - - - - - - Familial omphalocele syndrome with facial dysmorphism - - - - - - - - Generalized essential telangiectasia - - - - - - - - Bullous diffuse cutaneous mastocytosis - - - - - - - - Pseudoxanthomatous diffuse cutaneous mastocytosis - - - - - - - - Intralobar congenital pulmonary sequestration - - - - - - - - Extralobar congenital pulmonary sequestration - - - - - - - - Communicating congenital bronchopulmonary-foregut malformation - - - - - - - - Congenital pulmonary airway malformation type 0 - - - - - - - - Congenital pulmonary airway malformation type 1 - - - - - - - - Congenital pulmonary airway malformation type 2 - - - - - - - - Congenital pulmonary airway malformation type 3 - - - - - - - - Congenital pulmonary airway malformation type 4 - - - - - - - - Idiopathic anterior uveitis - - - - - - - - Idiopathic posterior uveitis - - - - - - - - Idiopathic panuveitis - - - - - - - - Systemic diseases with anterior uveitis - - - - - - - - Systemic diseases with posterior uveitis - - - - - - - - Systemic diseases with panuveitis - - - - - - - - Inherited non-syndromic ichthyosis - - - - - - - - Inherited ichthyosis syndromic form - - - - - - - - Autosomal recessive congenital ichthyosis - - - - - - - - Keratinopathic ichthyosis - - - - - - - - Acral self-healing collodion baby - - - - - - - - X-linked ichthyosis syndrome - - - - - - - - Autosomal ichthyosis syndrome - - - - - - - - Autosomal ichthyosis syndrome with prominent hair abnormalities - - - - - - - - Autosomal ichthyosis syndrome with prominent neurologic signs - - - - - - - - Autosomal ichthyosis syndrome with fatal disease course - - - - - - - - Autosomal ichthyosis syndrome with other associated signs - - - - - - - - Partial deletion of chromosome 12 - - - - - - - - Autoimmune polyendocrinopathy - - - - - - - - Xp22.13p22.2 duplication syndrome - - - - - - - - Fetal lung interstitial tumor - - - - - - - - Familial intrahepatic cholestasis - - - - - - - - Well-differentiated fetal adenocarcinoma of the lung - - - - - - - - Acute annular outer retinopathy - - - - - - - - Qualitative or quantitative defects of troponin - - - - - - - - Qualitative or quantitative defects of tropomyosin - - - - - - - - Ocular albinism - - - - - - - - Syndromic oculocutaneous albinism - - - - - - - - Disorder of phenylalanine metabolism - - - - - - - - Disorder of tyrosine metabolism - - - - - - - - Neonatal Marfan syndrome - - - - - - - - Marfan syndrome and Marfan-related disorders - - - - - - - - Bonnemann-Meinecke-Reich syndrome - - - - - - - - Rare disease with thoracic aortic aneurysm and aortic dissection - - - - - - - - Disorder of folate metabolism and transport - - - - - - - - Disorders of vitamin D metabolism - - - - - - - - Hypocalcemic rickets - - - - - - - - Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation - - - - - - - - Infective dermatitis associated with HTLV-1 - - - - - - - - Primary non-gestational choriocarcinoma of ovary - - - - - - - - Non-central nervous system-localized embryonal carcinoma - - - - - - - - Malignancy diagnosed during pregnancy - - - - - - - - Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome - - - - - - - - 4H leukodystrophy - - - - - - - - 12q15q21.1 microdeletion syndrome - - - - - - - - Microtriplication 11q24.1 - - - - - - - - Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency - - - - - - - - Juvenile nasopharyngeal angiofibroma - - - - - - - - Rare virus associated tumor - - - - - - - - Epstein-Barr Virus-related tumor - - - - - - - - Epstein-Barr virus-associated malignant lymphoproliferative disorder - - - - - - - - Epstein-Barr Virus-associated carcinoma - - - - - - - - Epstein-Barr Virus-associated mesenchymal tumor - - - - - - - - Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly - - - - - - - - Lymphoepithelial-like carcinoma - - - - - - - - Myopericytoma - - - - - - - - Late-onset primary lymphedema without systemic or visceral involvement - - - - - - - - Disorder of tryptophan metabolism - - - - - - - - Disorder of lysine and hydroxylysine metabolism - - - - - - - - Disorder of glutamine metabolism - - - - - - - - Disorder of proline metabolism - - - - - - - - Disorder of ornithine metabolism - - - - - - - - Transient hyperammonemia of the newborn - - - - - - - - Systemic disease with skin involvement - - - - - - - - Autoinflammatory syndrome with immune deficiency - - - - - - - - Autoinflammatory syndrome with skin involvement - - - - - - - - Rare head and neck tumor - - - - - - - - Acute generalized exanthematous pustulosis - - - - - - - - Pleomorphic rhabdomyosarcoma - - - - - - - - Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - - - - - - - - Grayson-Wilbrandt corneal dystrophy - - - - - - - - Pre-Descemet corneal dystrophy - - - - - - - - Ketamine-induced biliary dilatation - - - - - - - - Fixed drug eruption - - - - - - - - Toxic dermatosis - - - - - - - - Constitutional dyserythropoietic anemia - - - - - - - - 1p21.3 microdeletion syndrome - - - - - - - - Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome - - - - - - - - Syndactyly-nystagmus syndrome due to 2q31.1 microduplication - - - - - - - - Rare nevus - - - - - - - - Multiple pterygium syndrome - - - - - - - - Chronic intestinal failure - - - - - - - - Amelia - - - - - - - - Intercalary limb defects - - - - - - - - Congenital deformities of limbs - - - - - - - - Congenital deformities of fingers - - - - - - - - Joint formation defects - - - - - - - - Congenital joint dislocations - - - - - - - - Non syndromic limb overgrowth - - - - - - - - Syndrome with limb reduction defects - - - - - - - - Dysostosis with combined reduction defects of upper and lower limbs - - - - - - - - Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy - - - - - - - - Popliteal pterygium syndrome - - - - - - - - Amelia of upper limb - - - - - - - - Amelia of lower limb - - - - - - - - Humeral agenesis/hypoplasia - - - - - - - - Congenital absence of thigh and lower leg with foot present - - - - - - - - Congenital absence of both forearm and hand - - - - - - - - Congenital absence of both lower leg and foot - - - - - - - - Acheiria - - - - - - - - Apodia - - - - - - - - Congenital hypoplasia of thumb - - - - - - - - Hyperphalangy - - - - - - - - Oculodental syndrome, Rutherfurd type - - - - - - - - Central polydactyly - - - - - - - - Syndactyly type 6 - - - - - - - - Familial isolated clinodactyly of fingers - - - - - - - - Congenital pseudoarthrosis of the tibia - - - - - - - - Congenital pseudoarthrosis of the femur - - - - - - - - Congenital pseudoarthrosis of the fibula - - - - - - - - Congenital pseudoarthrosis of the radius - - - - - - - - Congenital pseudoarthrosis of the ulna - - - - - - - - Tibio-fibular synostosis - - - - - - - - True congenital shoulder dislocation - - - - - - - - Isolated congenital radial head dislocation - - - - - - - - Congenital knee dislocation - - - - - - - - Upper limb hypertrophy - - - - - - - - Lower limb hypertrophy - - - - - - - - Zygodactyly type 2 - - - - - - - - Zygodactyly type 3 - - - - - - - - Zygodactyly type 4 - - - - - - - - Congenital vertical talus, unilateral - - - - - - - - Congenital vertical talus, bilateral - - - - - - - - Humero-ulnar synostosis, unilateral - - - - - - - - Humero-ulnar synostosis, bilateral - - - - - - - - Radio-ulnar synostosis, unilateral - - - - - - - - Radio-ulnar synostosis, bilateral - - - - - - - - Congenital elbow dislocation, unilateral - - - - - - - - Congenital elbow dislocation, bilateral - - - - - - - - Congenital genu recurvatum - - - - - - - - Congenital genu flexum - - - - - - - - Macrodactyly of fingers, unilateral - - - - - - - - Macrodactyly of fingers, bilateral - - - - - - - - Macrodactyly of toes, unilateral - - - - - - - - Eng-Strom syndrome - - - - - - - - Macrodactyly of toes, bilateral - - - - - - - - Disorder of thiamine metabolism and transport - - - - - - - - 11p15.4 microduplication syndrome - - - - - - - - Sagliker syndrome - - - - - - - - Onychomatricoma - - - - - - - - Rare nail tumor - - - - - - - - Follicular cholangitis and pancreatitis - - - - - - - - Carcinoma of the ampulla of Vater - - - - - - - - Combined pulmonary fibrosis-emphysema syndrome - - - - - - - - Staphylococcal toxemia - - - - - - - - Laminopathy with striated muscle involvement - - - - - - - - Laminopathy with peripheral neuropathy - - - - - - - - Laminopathy with lipodystrophy - - - - - - - - Laminopathy with premature aging - - - - - - - - Indolent B-cell non-Hodgkin lymphoma - - - - - - - - Aggressive B-cell non-Hodgkin lymphoma - - - - - - - - Diffuse large B-cell lymphoma of the central nervous system - - - - - - - - Primary cutaneous anaplastic large cell lymphoma - - - - - - - - Splenic diffuse red pulp small B-cell lymphoma - - - - - - - - Hairy cell leukemia variant - - - - - - - - Glycogen storage disease due to muscle beta-enolase deficiency - - - - - - - - Diffuse large B-cell lymphoma with chronic inflammation - - - - - - - - ALK-positive anaplastic large cell lymphoma - - - - - - - - ALK-negative anaplastic large cell lymphoma - - - - - - - - Pituitary tumor - - - - - - - - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis - - - - - - - - Myospherulosis - - - - - - - - Rare tumor of gallbladder and extrahepatic biliary tract - - - - - - - - Rare tumor of liver and intrahepatic biliary tract - - - - - - - - Rare intoxication due to medical products - - - - - - - - Complication after organ transplantation - - - - - - - - Non-infectious anterior uveitis - - - - - - - - Rare parkinsonian syndrome due to neurodegenerative disease - - - - - - - - Hemiparkinsonism-hemiatrophy syndrome - - - - - - - - Rare parkinsonian syndrome due to intoxication - - - - - - - - Manganese poisoning - - - - - - - - Delayed encephalopathy due to carbon monoxide poisoning - - - - - - - - Cyanide-induced parkinsonism-dystonia - - - - - - - - Miscellaneous movement disorder due to neurodegenerative disease - - - - - - - - Frontotemporal neurodegeneration with movement disorder - - - - - - - - Rare tremor disorder - - - - - - - - Rare choreic movement disorder - - - - - - - - Neurodegenerative disease with chorea - - - - - - - - Postinfectious autoimmune disease with chorea - - - - - - - - Hemidystonia-hemiatrophy syndrome - - - - - - - - Rare myoclonus - - - - - - - - Primary myoclonus - - - - - - - - Rare disease with myoclonus as a major feature - - - - - - - - Epilepsy and/or ataxia with myoclonus as a major feature - - - - - - - - Non progressive epilepsy and/or ataxia with myoclonus as a major feature - - - - - - - - Motor stereotypies - - - - - - - - Rare paroxysmal movement disorder - - - - - - - - Hyperekplexia - - - - - - - - Sporadic hyperekplexia - - - - - - - - Rare genetic parkinsonian disorder - - - - - - - - Rare parkinsonian syndrome due to genetic neurodegenerative disease - - - - - - - - Miscellaneous movement disorder due to genetic neurodegenerative disease - - - - - - - - Rare genetic tremor disorder - - - - - - - - Rare genetic myoclonus - - - - - - - - Rare genetic disease with myoclonus as a major feature - - - - - - - - Diffuse palmoplantar keratoderma - - - - - - - - Isolated diffuse palmoplantar keratoderma - - - - - - - - Disease with diffuse palmoplantar keratoderma as a major feature - - - - - - - - Autosomal dominant diffuse mutilating palmoplantar keratoderma - - - - - - - - Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature - - - - - - - - Focal palmoplantar keratoderma - - - - - - - - Isolated focal palmoplantar keratoderma - - - - - - - - Disease with focal palmoplantar keratoderma as a major feature - - - - - - - - Punctate palmoplantar keratoderma - - - - - - - - Marginal papular palmoplantar keratoderma - - - - - - - - Focal acral hyperkeratosis - - - - - - - - Axial mesodermal dysplasia spectrum - - - - - - - - Congenital enterovirus infection - - - - - - - - Disease with punctate palmoplantar keratoderma as a major feature - - - - - - - - Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature - - - - - - - - Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature - - - - - - - - Disorder of beta and omega amino acid metabolism - - - - - - - - Aminoacylase deficiency - - - - - - - - Disorder of neutral amino acid transport - - - - - - - - Disorder of glycolysis - - - - - - - - Disorder of fructose metabolism - - - - - - - - Disorder of galactose metabolism - - - - - - - - Glycogen storage disease due to glycogen synthase deficiency - - - - - - - - Glycogen storage disease due to acid maltase deficiency, infantile onset - - - - - - - - Glycerol kinase deficiency - - - - - - - - Disorder of glyoxylate metabolism - - - - - - - - Disorder of carbohydrate absorption and transport - - - - - - - - Disorder of lipid metabolism - - - - - - - - Mevalonate kinase deficiency - - - - - - - - Disorder of lipid absorption and transport - - - - - - - - Disorder of fatty acid oxidation and ketogenesis - - - - - - - - Acyl-CoA dehydrogenase deficiency - - - - - - - - 3-hydroxyacyl-CoA dehydrogenase deficiency - - - - - - - - Disorder of carnitine cycle and carnitine transport - - - - - - - - Metabolic disease due to other fatty acid oxidation disorder - - - - - - - - Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes - - - - - - - - GM2 gangliosidosis - - - - - - - - Tay-Sachs disease, B variant, infantile form - - - - - - - - Tay-Sachs disease, B variant, juvenile form - - - - - - - - Tay-Sachs disease, B variant, adult form - - - - - - - - Tay-Sachs disease, B1 variant - - - - - - - - Metachromatic leukodystrophy, late infantile form - - - - - - - - Metachromatic leukodystrophy, juvenile form - - - - - - - - Metachromatic leukodystrophy, adult form - - - - - - - - Sialidosis - - - - - - - - Disorder of sialic acid metabolism - - - - - - - - Lysosomal glycogen storage disease - - - - - - - - Disorder of lysosomal-related organelles - - - - - - - - Disorder of protein N-glycosylation - - - - - - - - Disorder of protein O-glycosylation - - - - - - - - Disorder of O-xylosylglycan synthesis - - - - - - - - Disorder of O-N-acetylgalactosaminylglycan synthesis - - - - - - - - Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis - - - - - - - - Disorder of O-mannosylglycan synthesis - - - - - - - - Disorder of fucoglycosan synthesis - - - - - - - - Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation - - - - - - - - Disorder of multiple glycosylation - - - - - - - - Defect in conserved oligomeric Golgi complex - - - - - - - - Defect in V-ATPase - - - - - - - - Disorder of porphyrin and heme metabolism - - - - - - - - Disorder of bilirubin metabolism and excretion - - - - - - - - Disorder of pterin metabolism - - - - - - - - Disorder of metabolite absorption and transport - - - - - - - - Disorder of vitamin and non-protein cofactor absorption and transport - - - - - - - - Disorder of catecholamine synthesis - - - - - - - - Disorder of other vitamins and cofactors metabolism and transport - - - - - - - - Disorder of mineral absorption and transport - - - - - - - - Disorder of copper metabolism - - - - - - - - Disorder of iron metabolism and transport - - - - - - - - Disorder of zinc metabolism and transport - - - - - - - - Disorder of magnesium transport - - - - - - - - Disorder of manganese transport - - - - - - - - Acquired immunodeficiency - - - - - - - - 20p13 microdeletion syndrome - - - - - - - - Congenital pancreatic cyst - - - - - - - - Epstein-Barr virus-associated gastric carcinoma - - - - - - - - 2q23.1 microduplication syndrome - - - - - - - - Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome - - - - - - - - Idiopathic linear interstitial keratitis - - - - - - - - High bone mass osteogenesis imperfecta - - - - - - - - 7p22.1 microduplication syndrome - - - - - - - - Marfanoid habitus-inguinal hernia-advanced bone age syndrome - - - - - - - - Xq12-q13.3 duplication syndrome - - - - - - - - Epidermolysis bullosa simplex with muscular dystrophy - - - - - - - - Rare odontogenic tumor - - - - - - - - Spigelian hernia-cryptorchidism syndrome - - - - - - - - Meigs syndrome - - - - - - - - Pseudo-Meigs syndrome - - - - - - - - Atypical Meigs syndrome - - - - - - - - Ovarian fibroma - - - - - - - - Ovarian fibrothecoma - - - - - - - - Primary progressive apraxia of speech - - - - - - - - Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome - - - - - - - - Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome - - - - - - - - Growing teratoma syndrome - - - - - - - - Duplication of the pituitary gland - - - - - - - - Variant ABeta2M amyloidosis - - - - - - - - Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion - - - - - - - - Segmental progressive overgrowth syndrome with fibroadipose hyperplasia - - - - - - - - Primary bone lymphoma - - - - - - - - Acquired porencephaly - - - - - - - - Primary localized amyloidosis - - - - - - - - Rare disease with Cushing syndrome as a major feature - - - - - - - - Functioning pituitary adenoma - - - - - - - - Autosomal dominant generalized dystrophic epidermolysis bullosa - - - - - - - - Mixed functioning pituitary adenoma - - - - - - - - Somatomammotropinoma - - - - - - - - Silent pituitary adenoma - - - - - - - - Null pituitary adenoma - - - - - - - - Autosomal dominant proximal renal tubular acidosis - - - - - - - - Primary hypereosinophilic syndrome - - - - - - - - Secondary hypereosinophilic syndrome - - - - - - - - Lymphocytic hypereosinophilic syndrome - - - - - - - - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - - - - - - - - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - - - - - - - - Autoimmune disease with skin involvement - - - - - - - - Spastic ataxia - - - - - - - - Autosomal dominant spastic ataxia - - - - - - - - Autosomal recessive spastic ataxia - - - - - - - - Partial deletion of the short arm of chromosome 12 - - - - - - - - T-B+ severe combined immunodeficiency - - - - - - - - T-B- severe combined immunodeficiency - - - - - - - - Diencephalic-mesencephalic junction dysplasia - - - - - - - - Chondroectodermal dysplasia with night blindness - - - - - - - - Bilateral massive adrenal hemorrhage - - - - - - - - Autosomal dominant generalized epidermolysis bullosa simplex, severe form - - - - - - - - Lujo hemorrhagic fever - - - - - - - - Argentine hemorrhagic fever - - - - - - - - Bolivian hemorrhagic fever - - - - - - - - Venezuelan hemorrhagic fever - - - - - - - - Brazilian hemorrhagic fever - - - - - - - - Chapare hemorrhagic fever - - - - - - - - Rift valley fever - - - - - - - - Multilocular cystic renal neoplasm of low malignant potential - - - - - - - - Mucinous tubular and spindle cell renal carcinoma - - - - - - - - Tubulocystic renal cell carcinoma - - - - - - - - Inherited renal cancer-predisposing syndrome - - - - - - - - Familial nonmedullary thyroid carcinoma - - - - - - - - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency - - - - - - - - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency - - - - - - - - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency - - - - - - - - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - - - - - - - - Primary lymphoma of the conjunctiva - - - - - - - - Autoinflammatory syndrome of childhood - - - - - - - - X-linked pure spastic paraplegia - - - - - - - - Pure or complex hereditary spastic paraplegia - - - - - - - - Junctional epidermolysis bullosa inversa - - - - - - - - Pure or complex autosomal dominant spastic paraplegia - - - - - - - - Pure or complex autosomal recessive spastic paraplegia - - - - - - - - Pure or complex X-linked spastic paraplegia - - - - - - - - MT-ATP6-related mitochondrial spastic paraplegia - - - - - - - - Genetic tumor of hematopoietic and lymphoid tissues - - - - - - - - Multiple paragangliomas associated with polycythemia - - - - - - - - Severe lateral tibial bowing with short stature - - - - - - - - 9p13 microdeletion syndrome - - - - - - - - Congenital achiasma - - - - - - - - Mixed sclerosing bone dystrophy with extra-skeletal manifestations - - - - - - - - Hereditary inclusion body myopathy type 4 - - - - - - - - Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome - - - - - - - - Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation - - - - - - - - Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome - - - - - - - - Hyperinsulinism due to HNF1A deficiency - - - - - - - - Benign Samaritan congenital myopathy - - - - - - - - Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation - - - - - - - - Hendra virus infection - - - - - - - - Invasive non-typhoidal salmonellosis - - - - - - - - Microcephalic primordial dwarfism - - - - - - - - Trichorhinophalangeal syndrome - - - - - - - - Non-familial rare disease with dilated cardiomyopathy - - - - - - - - Hereditary periodic fever syndrome - - - - - - - - Pyogenic autoinflammatory syndrome - - - - - - - - Granulomatous autoinflammatory syndrome - - - - - - - - Mixed autoinflammatory and autoimmune syndrome - - - - - - - - Unclassified autoinflammatory syndrome - - - - - - - - Periodic fever syndrome of childhood - - - - - - - - Pyogenic autoinflammatory syndrome of childhood - - - - - - - - Localized epidermolysis bullosa simplex - - - - - - - - Granulomatous autoinflammatory syndrome of childhood - - - - - - - - Unclassified autoinflammatory syndrome of childhood - - - - - - - - Unexplained periodic fever syndrome of childhood - - - - - - - - 46,XX disorder of gonadal development - - - - - - - - 46,XX disorder of sex development induced by fetoplacental androgens excess - - - - - - - - 46,XX disorder of sex development induced by endogenous maternal-derived androgen - - - - - - - - 46,XX disorder of sex development induced by exogenous maternal-derived androgen - - - - - - - - Syndrome with 46,XX disorder of sex development - - - - - - - - 46,XY disorder of gonadal development - - - - - - - - 46,XY ovotesticular disorder of sex development - - - - - - - - Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form - - - - - - - - 46,XY disorder of sex development of endocrine origin - - - - - - - - 46,XY disorder of sex development due to impaired androgen production - - - - - - - - 46,XY disorder of sex development due to a cholesterol synthesis defect - - - - - - - - Classic congenital lipoid adrenal hyperplasia due to STAR deficency - - - - - - - - Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - - - - - - - - 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors - - - - - - - - Sex chromosome disorder of sex development - - - - - - - - Disorder of sex development of gynecological interest - - - - - - - - 46,XY disorder of sex development of gynecological interest - - - - - - - - Syndrome with disorder of sex development of gynecological interest - - - - - - - - PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement - - - - - - - - Genetic disorder of sex development of gynecological interest - - - - - - - - Genetic disorder of sex development - - - - - - - - Genetic 46,XX disorder of sex development - - - - - - - - Genetic 46,XY disorder of sex development - - - - - - - - Genetic 46,XY disorder of sex development of endocrine origin - - - - - - - - Cerebral sinovenous thrombosis - - - - - - - - Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency - - - - - - - - Thrombocythemia with distal limb defects - - - - - - - - Inverse Klippel-Trénaunay syndrome - - - - - - - - Autosomal recessive frontotemporal pachygyria - - - - - - - - Acute megakaryoblastic leukemia without Down syndrome - - - - - - - - Spastic paraplegia-Paget disease of bone syndrome - - - - - - - - Adult-onset distal myopathy due to VCP mutation - - - - - - - - Mosaic genome-wide paternal uniparental disomy - - - - - - - - Idiopathic giant cell myocarditis - - - - - - - - Non-hypoproteinemic hypertrophic gastropathy - - - - - - - - Juvenile idiopathic inflammatory myopathy - - - - - - - - Juvenile overlap myositis - - - - - - - - Transient neonatal multiple acyl-CoA dehydrogenase deficiency - - - - - - - - Intermittent hydrarthrosis - - - - - - - - Familial caudal dysgenesis - - - - - - - - Dystrophic epidermolysis bullosa - - - - - - - - Classic neuroendocrine tumor of appendix - - - - - - - - Wild type ATTR amyloidosis - - - - - - - - High altitude pulmonary edema - - - - - - - - Lead poisoning - - - - - - - - Hypotrichosis-deafness syndrome - - - - - - - - Hemoglobin Lepore-beta-thalassemia syndrome - - - - - - - - Chronic actinic dermatitis - - - - - - - - Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability - - - - - - - - Constitutional neutropenia with extra-hematopoietic manifestations - - - - - - - - Other immunodeficiency syndromes due to defects in innate immunity - - - - - - - - Syndrome with combined immunodeficiency - - - - - - - - Immunodeficiency due to absence of thymus - - - - - - - - Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells - - - - - - - - Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells - - - - - - - - Other immunodeficiency syndrome with predominantly antibody defects - - - - - - - - Immunodeficiency syndrome with hypopigmentation - - - - - - - - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis - - - - - - - - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement - - - - - - - - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement - - - - - - - - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement - - - - - - - - Junctional epidermolysis bullosa - - - - - - - - Mitochondrial DNA maintenance syndrome - - - - - - - - Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome - - - - - - - - Focal epilepsy-intellectual disability-cerebro-cerebellar malformation - - - - - - - - 16q24.1 microdeletion syndrome - - - - - - - - Phalangeal microgeodic syndrome - - - - - - - - Autosomal recessive cerebellar ataxia with late-onset spasticity - - - - - - - - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion - - - - - - - - Attenuated Chédiak-Higashi syndrome - - - - - - - - Disorder of melanin metabolism - - - - - - - - Minimal pigment oculocutaneous albinism type 1 - - - - - - - - Severe generalized junctional epidermolysis bullosa - - - - - - - - Congenital retinal arteriovenous communication - - - - - - - - Idiopathic macular telangiectasia type 1 - - - - - - - - Idiopathic macular telangiectasia type 3 - - - - - - - - Vasoproliferative tumor of the retina - - - - - - - - 3q26q27 microdeletion syndrome - - - - - - - - Arterial thoracic outlet syndrome - - - - - - - - Venous thoracic outlet syndrome - - - - - - - - Primary essential cutis verticis gyrata - - - - - - - - Primary non-essential cutis verticis gyrata - - - - - - - - Idiopathic nephrotic syndrome - - - - - - - - Genetic non-syndromic renal or urinary tract malformation - - - - - - - - Congenital anomaly of the great veins - - - - - - - - Ring chromosome - - - - - - - - Genetic progeroid syndrome - - - - - - - - Ciliopathy - - - - - - - - Genetic syndromic Pierre Robin syndrome - - - - - - - - Genetic intractable diarrhea of infancy - - - - - - - - Genetic intestinal disease due to fat malabsorption - - - - - - - - Genetic intestinal polyposis - - - - - - - - Tumor of testis and paratestis - - - - - - - - Localized dystrophic epidermolysis bullosa, pretibial form - - - - - - - - Paratesticular adenocarcinoma - - - - - - - - Sex cord-stromal tumor of testis - - - - - - - - Acute encephalopathy with biphasic seizures and late reduced diffusion - - - - - - - - Acute encephalopathy with inflammation-mediated status epilepticus - - - - - - - - Gonadal germ cell tumor - - - - - - - - LMNA-related cardiocutaneous progeria syndrome - - - - - - - - 20q11.2 microduplication syndrome - - - - - - - - 2p13.2 microdeletion syndrome - - - - - - - - Balint syndrome - - - - - - - - Koolen-De Vries syndrome due to a point mutation - - - - - - - - Autosomal recessive cerebral atrophy - - - - - - - - Immune hydrops fetalis - - - - - - - - Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood - - - - - - - - Hydroa vacciniforme-like lymphoma - - - - - - - - ALK-positive large B-cell lymphoma - - - - - - - - Severe early-childhood-onset retinal dystrophy - - - - - - - - Bipartite talus - - - - - - - - Primary bone dysplasia - - - - - - - - Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments - - - - - - - - Primary bone dysplasia with micromelia - - - - - - - - Otopalatodigital syndrome spectrum disorder - - - - - - - - Dysostosis - - - - - - - - Dysostosis with limb anomaly as a major feature - - - - - - - - Dysostosis with limb and face anomalies as a major feature - - - - - - - - Acrofacial dysostosis - - - - - - - - Rare bone disease related to a common gene or pathway defect - - - - - - - - Aggrecan-related bone disorder - - - - - - - - TRPV4-related bone disorder - - - - - - - - Primary short bowel syndrome - - - - - - - - Intellectual disability-hyperkinetic movement-truncal ataxia syndrome - - - - - - - - Obesity due to SIM1 deficiency - - - - - - - - 2p21 microdeletion syndrome without cystinuria - - - - - - - - Homozygous 2p21 microdeletion syndrome - - - - - - - - Intellectual disability-seizures-macrocephaly-obesity syndrome - - - - - - - - Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome - - - - - - - - Intellectual disability-facial dysmorphism-hand anomalies syndrome - - - - - - - - Spondyloepimetaphyseal dysplasia, Isidor type - - - - - - - - Spondylometaphyseal dysplasia, Czarny-Ratajczak type - - - - - - - - Acute myeloid leukemia with t(8;16)(p11;p13) translocation - - - - - - - - Familial syringomyelia - - - - - - - - Angora hair nevus - - - - - - - - Didymosis aplasticosebacea - - - - - - - - SCALP syndrome - - - - - - - - NEVADA syndrome - - - - - - - - Fetal anticonvulsant syndrome - - - - - - - - Fetal carbamazepine syndrome - - - - - - - - Rare disorder with dystonia and other neurologic or systemic manifestation - - - - - - - - Ataxia-telangiectasia variant - - - - - - - - Medich giant platelet syndrome - - - - - - - - XYLT1-CDG - - - - - - - - Camptodactyly-joint contractures-facial skeletal defects syndrome - - - - - - - - Congenital muscular dystrophy with hyperlaxity - - - - - - - - Qualitative or quantitative defects of alpha-dystroglycan - - - - - - - - Primary qualitative or quantitative defects of alpha-dystroglycan - - - - - - - - Congenital disorder of glycosylation with neurological involvement - - - - - - - - Congenital disorder of glycosylation with epilepsy as a major feature - - - - - - - - Congenital disorder of glycosylation with hepatic involvement - - - - - - - - Congenital disorder of glycosylation with dilated cardiomyopathy - - - - - - - - Congenital disorder of glycosylation with cardiac malformation as a major feature - - - - - - - - Congenital disorder of glycosylation with intestinal involvement - - - - - - - - Congenital disorder of glycosylation-related bone disorder - - - - - - - - Congenital disorder of glycosylation with skin involvement - - - - - - - - Congenital disorder of glycosylation with nephropathy as a major feature - - - - - - - - Congenital disorder of glycosylation with deafness as a major feature - - - - - - - - Genetic periodic paralysis - - - - - - - - Genetic neurovascular malformation - - - - - - - - Sphingolipidosis with epilepsy - - - - - - - - Genetic syndromic esophageal malformation - - - - - - - - Genetic hyperaldosteronism - - - - - - - - Generalized isolated dystonia - - - - - - - - Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression - - - - - - - - Juvenile absence epilepsy - - - - - - - - Fatal post-viral neurodegenerative disorder - - - - - - - - Growth retardation-mild developmental delay-chronic hepatitis syndrome - - - - - - - - Disorder of asparagine metabolism - - - - - - - - Adult-onset myasthenia gravis - - - - - - - - Juvenile myasthenia gravis - - - - - - - - Transient neonatal myasthenia gravis - - - - - - - - Glomus tumor - - - - - - - - Off-periods in Parkinson disease not responding to oral treatment - - - - - - - - Persistent combined dystonia - - - - - - - - Mucinous adenocarcinoma of the appendix - - - - - - - - Rare genetic dystonia - - - - - - - - Deep dermatophytosis - - - - - - - - PrP systemic amyloidosis - - - - - - - - 3q27.3 microdeletion syndrome - - - - - - - - Periodic paralysis with later-onset distal motor neuropathy - - - - - - - - Periodic paralysis with transient compartment-like syndrome - - - - - - - - T+ B+ severe combined immunodeficiency - - - - - - - - Ferro-cerebro-cutaneous syndrome - - - - - - - - Adenocarcinoma of the penis - - - - - - - - Squamous cell carcinoma of the penis - - - - - - - - Refractory celiac disease - - - - - - - - Prader-Willi-like syndrome - - - - - - - - SIM1-related Prader-Willi-like syndrome - - - - - - - - Secondary neonatal autoimmune disease - - - - - - - - Neonatal antiphospholipid syndrome - - - - - - - - Neonatal autoimmune hemolytic anemia - - - - - - - - Neonatal dermatomyositis - - - - - - - - Neonatal lupus erythematosus - - - - - - - - Neonatal scleroderma - - - - - - - - Persistent idiopathic facial pain - - - - - - - - Malignant non-epithelial tumor of ovary - - - - - - - - Mucinous adenocarcinoma of ovary - - - - - - - - Clear cell adenocarcinoma of the ovary - - - - - - - - Primary peritoneal serous/papillary carcinoma - - - - - - - - Malignant teratoma of ovary - - - - - - - - KLHL9-related early-onset distal myopathy - - - - - - - - Distal nebulin myopathy - - - - - - - - Osteonecrosis - - - - - - - - Avascular necrosis - - - - - - - - Secondary avascular necrosis - - - - - - - - Celiac disease-epilepsy-cerebral calcification syndrome - - - - - - - - Traumatic avascular necrosis - - - - - - - - Secondary non-traumatic avascular necrosis - - - - - - - - Rare hereditary disease with avascular necrosis - - - - - - - - Osteonecrosis of the jaw - - - - - - - - Primary avascular necrosis - - - - - - - - Idiopathic avascular necrosis - - - - - - - - Epiphysiolysis of the hip - - - - - - - - Osteonecrosis of genetic origin - - - - - - - - Avascular necrosis of genetic origin - - - - - - - - Osteochondrosis of genetic origin - - - - - - - - Progressive myoclonic epilepsy type 3 - - - - - - - - Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder - - - - - - - - Rare male infertility due to adrenal disorder - - - - - - - - Rare male infertility due to testicular endocrine disorder - - - - - - - - Male infertility due to gonadal dysgenesis or sperm disorder - - - - - - - - Male infertility due to sperm disorder - - - - - - - - Male infertility with spermatogenesis disorder - - - - - - - - Male infertility due to sperm motility disorder - - - - - - - - Rare disorder with obstructive azoospermia - - - - - - - - Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder - - - - - - - - Rare female infertility due to a congenital hypogonadotropic hypogonadism - - - - - - - - Epilepsy-telangiectasia syndrome - - - - - - - - Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism - - - - - - - - Rare female infertility due to an adrenal disorder - - - - - - - - Rare female infertility due to an anomaly of ovarian function - - - - - - - - Rare female infertility due to gonadal dysgenesis - - - - - - - - Rare female infertility due to an implantation defect - - - - - - - - Rare genetic male infertility - - - - - - - - Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin - - - - - - - - Rare male infertility due to adrenal disorder of genetic origin - - - - - - - - Male infertility due to obstructive azoospermia of genetic origin - - - - - - - - Rare genetic disorder with obstructive azoospermia - - - - - - - - Myoclonic-astatic epilepsy - - - - - - - - Rare genetic female infertility - - - - - - - - Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin - - - - - - - - Rare female infertility due to adrenal disorder of genetic origin - - - - - - - - Rare female infertility due to an anomaly of ovarian function of genetic origin - - - - - - - - Female infertility due to an implantation defect of genetic origin - - - - - - - - Autosomal recessive spastic paraplegia type 59 - - - - - - - - Autosomal recessive spastic paraplegia type 60 - - - - - - - - Autosomal recessive spastic paraplegia type 66 - - - - - - - - Autosomal recessive spastic paraplegia type 67 - - - - - - - - Autosomal recessive spastic paraplegia type 69 - - - - - - - - Benign occipital epilepsy - - - - - - - - Autosomal recessive spastic paraplegia type 70 - - - - - - - - Autosomal recessive spastic paraplegia type 71 - - - - - - - - Huntington disease-like syndrome due to C9ORF72 expansions - - - - - - - - AXIN2-related attenuated familial adenomatous polyposis - - - - - - - - Fibrolamellar hepatocellular carcinoma - - - - - - - - 9q31.1q31.3 microdeletion syndrome - - - - - - - - 14q24.1q24.3 microdeletion syndrome - - - - - - - - Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome - - - - - - - - Cold-induced sweating syndrome-hyperthermia spectrum - - - - - - - - Lichen myxedematosus - - - - - - - - Acute myeloid leukemia with t(6;9)(p23;q34) - - - - - - - - Acute myeloid leukemia with t(9;11)(p22;q23) - - - - - - - - Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) - - - - - - - - Acute myeloid leukemia with NPM1 somatic mutations - - - - - - - - Primary eosinophilic gastrointestinal disease - - - - - - - - Eosinophilic colitis - - - - - - - - Hepatitis delta - - - - - - - - FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome - - - - - - - - Rare female infertility due to oocyte maturation defect - - - - - - - - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome - - - - - - - - Chondromyxoid fibroma - - - - - - - - Clear cell papillary renal cell carcinoma - - - - - - - - Acquired cystic disease-associated renal cell carcinoma - - - - - - - - Spinal muscular atrophy with respiratory distress type 2 - - - - - - - - X-linked distal hereditary motor neuropathy - - - - - - - - Dysostosis of genetic origin - - - - - - - - Dysostosis of genetic origin with limb anomaly as a major feature - - - - - - - - Genetic syndrome with limb reduction defects - - - - - - - - Genetic syndrome with limb malformations as a major feature - - - - - - - - Polyarticular juvenile idiopathic arthritis - - - - - - - - Familial partial epilepsy - - - - - - - - Rare genetic bone development disorder - - - - - - - - Williams-Campbell syndrome - - - - - - - - Angelman syndrome due to a point mutation - - - - - - - - Angelman syndrome due to imprinting defect in 15q11-q13 - - - - - - - - Central retinal vein occlusion - - - - - - - - Proton-pump inhibitor-responsive esophageal eosinophilia - - - - - - - - Generalized eruptive keratoacanthoma - - - - - - - - 13q12.3 microdeletion syndrome - - - - - - - - PRKAR1B-related neurodegenerative dementia with intermediate filaments - - - - - - - - Dystonia-aphonia syndrome - - - - - - - - Genetic facial cleft - - - - - - - - Carcinoma of esophagus, salivary gland type - - - - - - - - Undifferentiated carcinoma of esophagus - - - - - - - - Squamous cell carcinoma of the stomach - - - - - - - - Secondary pulmonary alveolar proteinosis - - - - - - - - Semicircular canal dehiscence syndrome - - - - - - - - Glycogen storage disease due to acid maltase deficiency, late-onset - - - - - - - - Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency - - - - - - - - Rare genetic odontal or periodontal disorder - - - - - - - - Autoimmune encephalopathy with parasomnia and obstructive sleep apnea - - - - - - - - Cono-spondylar dysplasia - - - - - - - - Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome - - - - - - - - X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome - - - - - - - - ARX-related encephalopathy-brain malformation spectrum - - - - - - - - Rare autonomic nervous system disorder - - - - - - - - Double outlet right ventricle with subaortic or doubly committed ventricular septal defect - - - - - - - - Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy - - - - - - - - Rare carcinoma of stomach - - - - - - - - Hereditary gastric cancer - - - - - - - - Undifferentiated carcinoma of stomach - - - - - - - - Rare tumor of small intestine - - - - - - - - Mesenchymal tumor of small intestine - - - - - - - - Microcephaly-complex motor and sensory axonal neuropathy syndrome - - - - - - - - Rare carcinoma of small intestine - - - - - - - - Squamous cell carcinoma of the small intestine - - - - - - - - Neuroendocrine tumor of the small intestine - - - - - - - - Epithelial tumor of the appendix - - - - - - - - Rare epithelial tumor of colon - - - - - - - - Squamous cell carcinoma of the colon - - - - - - - - Rare epithelial tumor of rectum - - - - - - - - Squamous cell carcinoma of the rectum - - - - - - - - Epithelial tumor of anal canal - - - - - - - - Carcinoma of the anal canal - - - - - - - - Adenocarcinoma of the anal canal - - - - - - - - Squamous cell carcinoma of the anal canal - - - - - - - - Rare epithelial tumor of pancreas - - - - - - - - Squamous cell carcinoma of pancreas - - - - - - - - Acinar cell carcinoma of pancreas - - - - - - - - Mucinous cystadenocarcinoma of the pancreas - - - - - - - - Intraductal papillary mucinous carcinoma of pancreas - - - - - - - - Epiphyseal dysplasia-hearing loss-dysmorphism syndrome - - - - - - - - Solid pseudopapillary carcinoma of pancreas - - - - - - - - Serous cystadenocarcinoma of pancreas - - - - - - - - Osteoclastic giant cell tumor of pancreas - - - - - - - - Congenital myopathy with myasthenic-like onset - - - - - - - - Qualitative or quantitative defects of Torsin-1A-interacting protein 1 - - - - - - - - Rare malignant epithelial tumor of liver and intrahepatic biliary tract - - - - - - - - Carcinoma of liver and intrahepatic biliary tract - - - - - - - - Adenocarcinoma of the liver and intrahepatic biliary tract - - - - - - - - Undifferentiated carcinoma of liver and intrahepatic biliary tract - - - - - - - - Squamous cell carcinoma of liver and intrahepatic biliary tract - - - - - - - - Biliary cystadenocarcinoma - - - - - - - - Adenocarcinoma of the gallbladder and extrahepatic biliary tract - - - - - - - - Squamous cell carcinoma of gallbladder and extrahepatic biliary tract - - - - - - - - Inherited digestive cancer-predisposing syndrome - - - - - - - - Rare epithelial tumor of small intestine - - - - - - - - Primary immunodeficiency with predisposition to severe viral infection - - - - - - - - Late-onset scapuloperoneal muscular dystrophy with hyaline bodies - - - - - - - - Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder - - - - - - - - Patent urachus - - - - - - - - Urachal sinus - - - - - - - - Rotor syndrome - - - - - - - - Multiple epiphyseal dysplasia type 1 - - - - - - - - Urachal diverticulum - - - - - - - - Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis - - - - - - - - Rare genetic autonomic nervous system disorder - - - - - - - - Syndrome with woolly hair - - - - - - - - Fetal lower urinary tract obstruction - - - - - - - - Anterior urethral valve - - - - - - - - Genetic precocious puberty - - - - - - - - Precocious puberty in female - - - - - - - - Genetic precocious puberty in female - - - - - - - - Genetic otorhinolaryngological malformation - - - - - - - - Genetic nose and cavum anomaly - - - - - - - - Genetic larynx anomaly - - - - - - - - Genetic tracheal anomaly - - - - - - - - 3p25.3 microdeletion syndrome - - - - - - - - Congenital urachal anomaly - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation - - - - - - - - Contractures-developmental delay-Pierre Robin syndrome - - - - - - - - Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome - - - - - - - - Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome - - - - - - - - Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy - - - - - - - - Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa - - - - - - - - Disorder of keton body transport - - - - - - - - Human infection by orthopoxvirus - - - - - - - - Placental insufficiency - - - - - - - - Pediatric arterial ischemic stroke - - - - - - - - Zinc-responsive necrolytic acral erythema - - - - - - - - Non-recovering obstetric brachial plexus lesion - - - - - - - - ALECT2 amyloidosis - - - - - - - - AApoAIV amyloidosis - - - - - - - - ABeta2M amyloidosis - - - - - - - - Primary polyarteritis nodosa - - - - - - - - Secondary polyarteritis nodosa - - - - - - - - Single-organ polyarteritis nodosa - - - - - - - - Systemic polyarteritis nodosa - - - - - - - - Autosomal recessive severe congenital neutropenia - - - - - - - - Plastic bronchitis - - - - - - - - Congenital oculomotor nerve palsy - - - - - - - - Congenital abducens nerve palsy - - - - - - - - Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome - - - - - - - - Necrotizing soft tissue infection - - - - - - - - Familial colorectal cancer Type X - - - - - - - - Disorders of pentose/polyol metabolism - - - - - - - - Extensive peripapillary myelinated nerve fibers - - - - - - - - Combined hamartoma of the retina and retinal pigment epithelium - - - - - - - - Isolated agenesis of gallbladder - - - - - - - - Syndromic hereditary optic neuropathy - - - - - - - - Early-onset posterior subcapsular cataract - - - - - - - - AH amyloidosis - - - - - - - - 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect - - - - - - - - Hyperinsulinemic hypoglycaemia - - - - - - - - Hypothalamic adipsic hypernatraemia syndrome - - - - - - - - Lymphoplasmacytic lymphoma without IgM production - - - - - - - - NUT midline carcinoma - - - - - - - - Postpartum psychosis - - - - - - - - Spontaneous intracranial hypotension - - - - - - - - Paratyphoid fever - - - - - - - - ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor - - - - - - - - HIV-associated cancer - - - - - - - - 11q22.2q22.3 microdeletion syndrome - - - - - - - - 20q11.2 microdeletion syndrome - - - - - - - - Idiopathic phalangeal acro-osteolysis - - - - - - - - Pseudohypoaldosteronism - - - - - - - - Caudal regression-sirenomelia spectrum - - - - - - - - Secondary vasculitis - - - - - - - - NIK deficiency - - - - - - - - Susceptibility to localized juvenile periodontitis - - - - - - - - Autosomal dominant spastic paraplegia type 9B - - - - - - - - IgG4-related sclerosing cholangitis - - - - - - - - Sclerosing cholangitis - - - - - - - - Secondary sclerosing cholangitis - - - - - - - - Keratocystic odontogenic tumor - - - - - - - - Cerebral visual impairment - - - - - - - - Lipoyl transferase 2 deficiency - - - - - - - - Biological anomaly without phenotypic characterization - - - - - - - - Idiopathic dropped head syndrome - - - - - - - - 19p13.3 microduplication syndrome - - - - - - - - Partial duplication of the short arm of chromosome 19 - - - - - - - - Ectopia cordis - - - - - - - - Genetic primary orthostatic hypotension - - - - - - - - Pleural empyema - - - - - - - - Erosive pustular dermatosis of the scalp - - - - - - - - Scedosporiosis - - - - - - - - Snakebite envenomation - - - - - - - - IgG4-related kidney disease - - - - - - - - IgG4-related aortitis - - - - - - - - IgG4-related submandibular gland disease - - - - - - - - IgG4-related ophthalmic disease - - - - - - - - Eosinophilic angiocentric fibrosis - - - - - - - - Polyclonal hyperviscosity syndrome - - - - - - - - Primary cutaneous plasmacytosis - - - - - - - - Cutaneous pseudolymphoma - - - - - - - - Congenital insensitivity to pain with severe intellectual disability - - - - - - - - Progressive muscular atrophy - - - - - - - - Anti-p200 pemphigoid - - - - - - - - Endometrioid carcinoma of ovary - - - - - - - - Variably protease-sensitive prionopathy - - - - - - - - Isolated tracheoesophageal fistula - - - - - - - - Acute radiation syndrome - - - - - - - - Avian influenza - - - - - - - - 1p35.2 microdeletion syndrome - - - - - - - - Hereditary neuroendocrine tumor of small intestine - - - - - - - - Pseudohypoparathyroidism without Albright hereditary osteodystrophy - - - - - - - - Congenital nemaline myopathy - - - - - - - - TAFRO syndrome - - - - - - - - Isolated splenogonadal fusion - - - - - - - - Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome - - - - - - - - Clear cell sarcoma of kidney - - - - - - - - Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome - - - - - - - - Composite hemangioendothelioma - - - - - - - - Retiform hemangioendothelioma - - - - - - - - Primary intralymphatic angioendothelioma - - - - - - - - - Complement component 5 deficiency - - - - - - - - Congenital hemangioma - - - - - - - - Partially involuting congenital hemangioma - - - - - - - - Mixed cystic lymphatic malformation - - - - - - - - Vascular tumor with associated anomalies - - - - - - - - Rare capillary malformation with associated anomalies - - - - - - - - Common cystic lymphatic malformation - - - - - - - - Rare combined vascular malformation - - - - - - - - Rare vascular malformation of major vessels - - - - - - - - Corpus callosum agenesis-macrocephaly-hypertelorism syndrome - - - - - - - - Immunodeficiency due to a complement cascade component deficiency - - - - - - - - Congenital lethal erythroderma - - - - - - - - Immunodeficiency due to a complement regulatory deficiency - - - - - - - - Rare genetic capillary malformation - - - - - - - - Genetic complex vascular malformation with associated anomalies - - - - - - - - Rare genetic vascular tumor - - - - - - - - Rare genetic venous malformation - - - - - - - - Lethal multiple congenital anomalies/dysmorphic syndrome - - - - - - - - Intellectual disability syndrome due to a DYRK1A point mutation - - - - - - - - Verrucous hemangioma - - - - - - - - Benign metanephric tumor - - - - - - - - Neonatal alloimmune neutropenia - - - - - - - - Acquired methemoglobinemia - - - - - - - - Paracetamol poisoning - - - - - - - - Familial gastric type 1 neuroendocrine tumor - - - - - - - - Immune-mediated acquired neuromuscular junction disease - - - - - - - - Genetic hemoglobinopathy - - - - - - - - Genetic otorhinolaryngologic disease - - - - - - - - Exercise-induced malignant hyperthermia - - - - - - - - Rare disease with malignant hyperthermia - - - - - - - - Cyanide poisoning - - - - - - - - Scorpion envenomation - - - - - - - - Euthyroid Graves orbitopathy - - - - - - - - Supratip dysplasia - - - - - - - - Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome - - - - - - - - SMARCA4-deficient sarcoma of thorax - - - - - - - - Tubulinopathy-associated dysgyria - - - - - - - - Cryptogenic multifocal ulcerous stenosing enteritis - - - - - - - - Chronic enteropathy associated with SLCO2A1 gene - - - - - - - - Genetic lethal multiple congenital anomalies/dysmorphic syndrome - - - - - - - - Rare congenital anomaly of ventricular septum - - - - - - - - Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome - - - - - - - - Thickened earlobes-conductive deafness syndrome - - - - - - - - Erythrokeratodermia-cardiomyopathy syndrome - - - - - - - - Axonal hereditary motor and sensory neuropathy - - - - - - - - Demyelinating hereditary motor and sensory neuropathy - - - - - - - - Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome - - - - - - - - Intermediate Charcot-Marie-Tooth disease - - - - - - - - Hypercontractile muscle stiffness syndrome - - - - - - - - Congenital generalized hypercontractile muscle stiffness syndrome - - - - - - - - Type 1 interferonopathy - - - - - - - - Fibroblastic rheumatism - - - - - - - - Nodular fasciitis - - - - - - - - Genetic cerebral small vessel disease - - - - - - - - COL4A1 or COL4A2-related cerebral small vessel disease - - - - - - - - COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy - - - - - - - - COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy - - - - - - - - Moyamoya angiopathy - - - - - - - - Rare disorder with a moyamoya angiopathy - - - - - - - - Primary condylar hyperplasia - - - - - - - - Syndromic constitutional thrombocytopenia - - - - - - - - Isolated constitutional thrombocytopenia - - - - - - - - Genetic cardiac malformation - - - - - - - - Esthesioneuroblastoma - - - - - - - - Other genetic dermis disorder - - - - - - - - Rare hypercholesterolemia - - - - - - - - MYO5B-related progressive familial intrahepatic cholestasis - - - - - - - - Choledochal cyst - - - - - - - - Primary intrahepatic lithiasis - - - - - - - - Idiopathic ductopenia - - - - - - - - Caroli syndrome - - - - - - - - Idiopathic peliosis hepatis - - - - - - - - Lethal hydranencephaly-diaphragmatic hernia syndrome - - - - - - - - Congenital portosystemic shunt - - - - - - - - Ethylmalonic encephalopathy - - - - - - - - High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement - - - - - - - - Non-severe combined immunodeficiency - - - - - - - - Aneurysmal bone cyst - - - - - - - - Isolated neonatal sclerosing cholangitis - - - - - - - - Facial diplegia with paresthesias - - - - - - - - Gastroenteric neuroendocrine neoplasm - - - - - - - - Type 1 interferonopathy of childhood - - - - - - - - Genetic alopecia - - - - - - - - HTRA1-related cerebral small vessel disease - - - - - - - - Rare idiopathic macular telangiectasia - - - - - - - - X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome - - - - - - - - Propylthiouracil embryofetopathy - - - - - - - - Genetic non-acquired premature ovarian failure - - - - - - - - 16p12.1p12.3 triplication syndrome - - - - - - - - EMILIN-1-related connective tissue disease - - - - - - - - Isolated congenital hepatic fibrosis - - - - - - - - Congenital bile acid synthesis defect - - - - - - - - Rare pediatric rheumatologic disease - - - - - - - - Pediatric collagenous gastritis - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation - - - - - - - - Björnstad syndrome - - - - - - - - Peripartum cardiomyopathy - - - - - - - - Acute macular neuroretinopathy - - - - - - - - SIX2-related frontonasal dysplasia - - - - - - - - Congenital amyoplasia - - - - - - - - Extracranial carotid artery aneurysm - - - - - - - - Idiopathic pleuroparenchymal fibroelastosis - - - - - - - - Vulvar squamous cell carcinoma - - - - - - - - Vulvar basal cell carcinoma - - - - - - - - Vulvar adenocarcinoma - - - - - - - - Rare hyperkinetic movement disorder - - - - - - - - 9q33.3q34.11 microdeletion syndrome - - - - - - - - Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome - - - - - - - - Congenital agenesis of the scrotum - - - - - - - - Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome - - - - - - - - Rare genetic hyperkinetic movement disorder - - - - - - - - Non-inflammatory vasculopathy - - - - - - - - C12ORF65-related combined oxidative phosphorylation defect - - - - - - - - Epidermolytic nevus - - - - - - - - Menstrual cycle-dependent periodic fever - - - - - - - - Biliary atresia and associated disorders - - - - - - - - Syndromic biliary atresia - - - - - - - - Exostoses-anetodermia-brachydactyly type E syndrome - - - - - - - - Genetic inflammatory or rheumatoid-like osteoarthropathy - - - - - - - - Overgrowth or tall stature syndrome with skeletal involvement - - - - - - - - Dysostosis with brachydactyly without extraskeletal manifestations - - - - - - - - Dysostosis with brachydactyly with extraskeletal manifestations - - - - - - - - Longitudinal limb defect - - - - - - - - Terminal transverse limb defect - - - - - - - - Non-syndromic preaxial polydactyly - - - - - - - - Non-syndromic postaxial polydactyly - - - - - - - - Non-syndromic complex polydactyly - - - - - - - - Hyaline fibromatosis syndrome - - - - - - - - Ectrodactyly with and without other manifestations - - - - - - - - LRP5-related primary osteoporosis - - - - - - - - Overgrowth syndrome with 2q37 translocation - - - - - - - - Complete hemimelia - - - - - - - - Mirror-image polydactyly - - - - - - - - MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome - - - - - - - - Congenital syphilis - - - - - - - - Autoimmune/inflammatory optic neuropathy - - - - - - - - Chronic relapsing inflammatory optic neuropathy - - - - - - - - Isolated optic neuritis - - - - - - - - - Exostoses, multiple, type i - - - - - - - - Recurrent idiopathic neuroretinitis - - - - - - - - Idiopathic optic perineuritis - - - - - - - - Pilomatrix carcinoma - - - - - - - - Witteveen-Kolk syndrome - - - - - - - - Cochleovestibular malformation - - - - - - - - Cochlear nerve deficiency - - - - - - - - Squamous cell carcinoma of oral cavity and lip - - - - - - - - Metopic ridging-ptosis-facial dysmorphism syndrome - - - - - - - - 4q25 proximal deletion syndrome - - - - - - - - Erythema multiforme major - - - - - - - - - Exostoses, multiple, type ii - - - - - - - - 3-methylglutaconic aciduria type 8 - - - - - - - - Ventilator-induced diaphragmatic dysfunction - - - - - - - - Neuroendocrine neoplasm of pancreas - - - - - - - - Functioning neuroendocrine tumor of pancreas - - - - - - - - Non-functioning neuroendocrine tumor of pancreas - - - - - - - - Serotonin-producing neuroendocrine tumor of pancreas - - - - - - - - Neuroendocrine carcinoma of pancreas - - - - - - - - Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas - - - - - - - - Neuroendocrine neoplasm of esophagus - - - - - - - - Rare disorder potentially indicated for transplant - - - - - - - - - Exostoses, multiple, type iii - - - - - - - - Rare disorder potentially indicated for liver transplant - - - - - - - - Rare disorder potentially indicated for kidney transplant - - - - - - - - Rare disorder potentially indicated for bowel transplant - - - - - - - - Rare disorder potentially indicated for hematopoietic stem cell transplant - - - - - - - - Rare disorder potentially indicated for lung transplant - - - - - - - - Rare disorder potentially indicated for heart transplant - - - - - - - - Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome - - - - - - - - Familial intestinal malrotation - - - - - - - - Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome - - - - - - - - Oral-facial-digital syndrome with short stature and brachymesophalangy - - - - - - - - Exstrophy-epispadias complex - - - - - - - - Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome - - - - - - - - Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome - - - - - - - - Chronic lymphoproliferative disorder of natural killer cells - - - - - - - - Large granular lymphocyte leukemia - - - - - - - - Autosomal recessive epidermolytic ichthyosis - - - - - - - - Congenital cerebellar ataxia due to RNU12 mutation - - - - - - - - Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome - - - - - - - - ATP13A2-related parkinsonism - - - - - - - - Inflammatory/autoimmune disorder involving the lacrimal system - - - - - - - - Rare disorder of the ocular adnexa - - - - - - - - Rare disorder with ectropion - - - - - - - - Rare disorder with entropion - - - - - - - - Structural developmental eye defect - - - - - - - - Syndromic lacrimal system disorder - - - - - - - - Anterior segment developmental abnormality with extraocular manifestations - - - - - - - - Infective keratitis - - - - - - - - Rare conjunctivitis - - - - - - - - Rare corneal disorder - - - - - - - - Rare disorder of the anterior segment of the eye - - - - - - - - Rare disorder of the pupil - - - - - - - - Rare disorder with corneal involvement as a major feature - - - - - - - - Rare inflammatory/autoimmune corneal disorder - - - - - - - - Syndromic ectopia lentis - - - - - - - - Syndromic microspherophakia - - - - - - - - Rare disorder with pigmented sclera - - - - - - - - Rare scleral disorder - - - - - - - - Isolated chorioretinal dystrophy - - - - - - - - Isolated macular dystrophy - - - - - - - - Isolated vitreoretinopathy - - - - - - - - Isolated progressive inherited retinal disorder - - - - - - - - Dilated cardiomyopathy - - - - - - - - Rare choroidal disorder - - - - - - - - Rare disorder of the posterior segment of the eye - - - - - - - - Rare macular disorder - - - - - - - - Rare retinal disorder - - - - - - - - Rare retinal vasculopathy - - - - - - - - Isolated stationary inherited retinal disorder - - - - - - - - Syndromic chorioretinal dystrophy - - - - - - - - Syndromic macular dystrophy - - - - - - - - Syndromic inherited retinal disorder - - - - - - - - Syndromic vitreoretinopathy - - - - - - - - Rare disorder involving multiple structures of the eye - - - - - - - - Secondary early-onset glaucoma - - - - - - - - Congenital optic disc excavation - - - - - - - - Disorder with optic nerve compression - - - - - - - - Pseudopapilledema - - - - - - - - Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature - - - - - - - - Rare ophthalmic disorder with cortical involvement - - - - - - - - Rare disorder with optic disc malformation - - - - - - - - Rare neuromuscular disorder with ocular motility/alignment anomaly - - - - - - - - Rare ophthalmic disorder with cranial nerve involvement - - - - - - - - Rare optic nerve disorder - - - - - - - - Rare trochlear nerve disorder - - - - - - - - Rare ocular motility/alignment disorder - - - - - - - - Isolated congenital entropion - - - - - - - - Isolated blepharochalasis - - - - - - - - Isolated iridoschisis - - - - - - - - Isolated microspherophakia - - - - - - - - Isolated foveal hypoplasia - - - - - - - - Peripapillary staphyloma - - - - - - - - Isolated megalopapilla - - - - - - - - Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome - - - - - - - - Optic disc pit - - - - - - - - Thygeson superficial punctate keratitis - - - - - - - - Mooren ulcer - - - - - - - - Terrien marginal degeneration - - - - - - - - Fungal keratitis - - - - - - - - Rare disorder of the visual organs - - - - - - - - Isolated inherited retinal disorder - - - - - - - - Radiation-induced plexopathy - - - - - - - - Osteoradionecrosis of the mandible - - - - - - - - Radiation-induced disorder - - - - - - - - Genetic primary orthostatic disorder - - - - - - - - Primary orthostatic disorder - - - - - - - - Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome - - - - - - - - Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect - - - - - - - - Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome - - - - - - - - Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome - - - - - - - - LAMA5-related multisystemic syndrome - - - - - - - - Primary autoimmune enteropathy - - - - - - - - Syndromic autoimmune enteropathy - - - - - - - - Rare genetic disorder of the visual organs - - - - - - - - Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature - - - - - - - - Rare genetic ophthalmic disorder with cortical involvement - - - - - - - - Rare genetic ophthalmic disorder with cranial nerve involvement - - - - - - - - Rare genetic optic nerve disorder - - - - - - - - Congenital optic disc excavation of genetic origin - - - - - - - - Rare genetic ocular motility/alignment disorder - - - - - - - - Rare genetic disorder with strabismus - - - - - - - - Syndromic genetic disorder with strabismus - - - - - - - - Rare genetic neuromuscular disorder with ocular motility/alignment anomaly - - - - - - - - Rare genetic disorder of the ocular adnexa - - - - - - - - Eyebrow duplication-syndactyly syndrome - - - - - - - - Rare genetic palpebral disorder - - - - - - - - Rare genetic eyelid malposition disorder - - - - - - - - Rare genetic disorder with entropion - - - - - - - - Rare genetic disorder of the lacrimal apparatus - - - - - - - - Lacrimal drainage system anomaly of genetic origin - - - - - - - - Structural developmental eye defect of genetic origin - - - - - - - - Rare genetic disorder of the anterior segment of the eye - - - - - - - - Anterior segment developmental anomaly of genetic origin - - - - - - - - Rare genetic disorder with conjunctival involvement as a major feature - - - - - - - - Rare genetic disorder with lens opacification - - - - - - - - Syndromic genetic cataract - - - - - - - - Lens size anomaly of genetic origin - - - - - - - - Lens position anomaly of genetic origin - - - - - - - - Syndromic genetic ectopia lentis - - - - - - - - Rare genetic corneal disorder - - - - - - - - Rare genetic disorder with corneal involvement as a major feature - - - - - - - - Genetic corneal dystrophy - - - - - - - - Genetic superficial corneal dystrophy - - - - - - - - Syndromic genetic keratoconus - - - - - - - - Rare genetic inflammatory/autoimmune corneal disorder - - - - - - - - Rare genetic disorder of the pupil - - - - - - - - Rare genetic disorder of the posterior segment of the eye - - - - - - - - Rare genetic retinal disorder - - - - - - - - Rare genetic macular disorder - - - - - - - - Rare genetic retinal vasculopathy - - - - - - - - Rare genetic disorder involving multiple structures of the eye - - - - - - - - Secondary early-onset glaucoma of genetic origin - - - - - - - - Rare genetic choroidal disorder - - - - - - - - Pediatric-onset glaucoma - - - - - - - - Genetic congenital malformation of the eye with glaucoma as a major feature - - - - - - - - Pediatric-onset Graves disease - - - - - - - - Prepubertal anorexia nervosa - - - - - - - - Encephalopathy due to mitochondrial and peroxisomal fission defect - - - - - - - - Diaphragmatic hernia-short bowel-asplenia syndrome - - - - - - - - Hereditary angioedema with C1Inh deficiency - - - - - - - - Hereditary angioedema with normal C1Inh - - - - - - - - Acquired angioedema with C1Inh deficiency - - - - - - - - Acute bilirubin encephalopathy - - - - - - - - Chronic bilirubin encephalopathy - - - - - - - - Letrozole toxicity - - - - - - - - Combined hepatocellular carcinoma and cholangiocarcinoma - - - - - - - - Secondary erythromelalgia - - - - - - - - 17q24.2 microdeletion syndrome - - - - - - - - Immune dysregulation with inflammatory bowel disease - - - - - - - - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome - - - - - - - - Inflammatory bowel disease-recurrent sinopulmonary infections syndrome - - - - - - - - Dermoid or epidermoid cyst of the central nervous system - - - - - - - - Progressive myoclonic epilepsy with neuroserpin inclusion bodies - - - - - - - - Progressive dementia with neuroserpin inclusion bodies - - - - - - - - PIK3CA-related overgrowth syndrome - - - - - - - - Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome - - - - - - - - RELA fusion-positive ependymoma - - - - - - - - Lamb-Shaffer syndrome - - - - - - - - 9q21.13 microdeletion syndrome - - - - - - - - RASopathy - - - - - - - - Spondylodysplastic Ehlers-Danlos syndrome - - - - - - - - Myopathic Ehlers-Danlos syndrome - - - - - - - - Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency - - - - - - - - PLG-related hereditary angioedema with normal C1Inh - - - - - - - - Congenital axonal neuropathy with encephalopathy - - - - - - - - Neurological channelopathy of the central nervous system due to a genetic chloride channel defect - - - - - - - - Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome - - - - - - - - Classic pyoderma gangrenosum - - - - - - - - Pustular pyoderma gangrenosum - - - - - - - - Bullous pyoderma gangrenosum - - - - - - - - Vegetative pyoderma gangrenosum - - - - - - - - Anomalous aortic origin of the left coronary artery - - - - - - - - Anomalous aortic origin of the right coronary artery - - - - - - - - Anomalous aortic origin of coronary artery - - - - - - - - Anomalous origin of coronary artery from the pulmonary artery - - - - - - - - CAR T cell therapy-associated cytokine release syndrome - - - - - - - - Quadricuspid aortic valve - - - - - - - - Anomaly of the coronary ostia - - - - - - - - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome - - - - - - - - SYNGAP1-related developmental and epileptic encephalopathy - - - - - - - - Hemolytic uremic syndrome - - - - - - - - Infection-related hemolytic uremic syndrome - - - - - - - - Streptococcus pneumoniae-associated hemolytic uremic syndrome - - - - - - - - Congenital primary megaureter, refluxing and obstructed form - - - - - - - - Collagen-related glomerular basement membrane disease - - - - - - - - Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome - - - - - - - - Fibrohistiocytic inflammatory pseudotumor of the liver - - - - - - - - Lymphoplasmacytic inflammatory pseudotumor of the liver - - - - - - - - Congenital tricuspid valve dysplasia - - - - - - - - IgA pemphigus - - - - - - - - Early-onset familial hypoaldosteronism - - - - - - - - Late-onset familial hypoaldosteronism - - - - - - - - Rare disorder due to poisoning - - - - - - - - Early-onset calcifying leukoencephalopathy-skeletal dysplasia - - - - - - - - Spastic ataxia-dysarthria due to glutaminase deficiency - - - - - - - - Rare disorder with Hirschsprung disease as a major feature - - - - - - - - Idiopathic gastroparesis - - - - - - - - Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome - - - - - - - - Autoimmune hepatitis type 1 - - - - - - - - Autoimmune hepatitis type 2 - - - - - - - - Seronegative autoimmune hepatitis - - - - - - - - Isolated anencephaly - - - - - - - - Isolated exencephaly - - - - - - - - Serous cystadenoma of childhood - - - - - - - - Mucinous cystadenoma of childhood - - - - - - - - Seromucinous cystadenoma of childhood - - - - - - - - Furuncular myiasis due to Dermatobia hominis - - - - - - - - Furuncular myiasis due to Cordylobia anthropophaga - - - - - - - - Furuncular myiasis due to Cordylobia rodhaini - - - - - - - - Syndromic congenital sodium diarrhea - - - - - - - - Isolated congenital aglossia - - - - - - - - Isolated congenital hypoglossia - - - - - - - - Genetic nephrotic syndrome - - - - - - - - Primary hypomagnesemia-refractory seizures-intellectual disability syndrome - - - - - - - - Triglyceride deposit cardiomyovasculopathy - - - - - - - - Primary desmosis coli - - - - - - - - Methotrexate toxicity - - - - - - - - Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 - - - - - - - - POMGNT2-related limb-girdle muscular dystrophy R24 - - - - - - - - Calpain-3-related limb-girdle muscular dystrophy D4 - - - - - - - - CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome - - - - - - - - Congenital autosomal recessive small-platelet thrombocytopenia - - - - - - - - Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha - - - - - - - - Acute mast cell leukemia - - - - - - - - Chronic mast cell leukemia - - - - - - - - Liver adenomatosis - - - - - - - - Aprosencephaly/atelencephaly spectrum - - - - - - - - Atelencephaly - - - - - - - - Aprosencephaly - - - - - - - - Left sided atrial isomerism - - - - - - - - Mueller-Weiss syndrome - - - - - - - - B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome - - - - - - - - Idiopathic non-lupus full-house nephropathy - - - - - - - - Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance - - - - - - - - Idiopathic multidrug-resistant nephrotic syndrome - - - - - - - - Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy - - - - - - - - Systemic disease with glomerulopathy as a major feature - - - - - - - - Lethal faciocardiomelic dysplasia - - - - - - - - Genetic systemic disease with glomerulopathy as a major feature - - - - - - - - Non-genetic systemic disease with glomerulopathy as a major feature - - - - - - - - Systemic vasculitis associated with glomerulopathy - - - - - - - - Disorder with multisystemic involvement and glomerulopathy - - - - - - - - Nephrotic syndrome without extrarenal manifestations - - - - - - - - Parenteral nutrition-associated cholestasis - - - - - - - - Primary lymphedema without systemic or visceral involvement - - - - - - - - Primary lymphedema with systemic or visceral involvement - - - - - - - - Disorder with multisystemic involvement and primary lymphedema - - - - - - - - GJC2-related late-onset primary lymphedema - - - - - - - - Vestibular schwannoma - - - - - - - - Faciocardiorenal syndrome - - - - - - - - Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome - - - - - - - - PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis - - - - - - - - EPHB4-related lymphatic-related hydrops fetalis - - - - - - - - Angiomatoid fibrous histiocytoma - - - - - - - - Microcystic stromal tumor - - - - - - - - Multiple mitochondrial dysfunctions syndrome type 5 - - - - - - - - CELSR1-related late-onset primary lymphedema - - - - - - - - Congenital primary lymphedema of Gordon - - - - - - - - Bartter syndrome type 5 - - - - - - - - Idiopathic multicentric Castleman disease - - - - - - - - HHV-8-associated multicentric Castleman disease - - - - - - - - Ricin poisoning - - - - - - - - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - - - - - - - Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia - - - - - - - - DONSON-related microcephaly-short stature-limb abnormalities spectrum - - - - - - - - Pheochromocytoma-paraganglioma - - - - - - - - Split cord malformation type II - - - - - - - - Split cord malformation - - - - - - - - Predisposition to severe viral infection due to IRF7 deficiency - - - - - - - - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency - - - - - - - - Cathepsin A-related arteriopathy-strokes-leukoencephalopathy - - - - - - - - Middle East respiratory syndrome - - - - - - - - Complete atrioventricular septal defect without ventricular hypoplasia - - - - - - - - Partial atrioventricular septal defect with ventricular hypoplasia - - - - - - - - Partial atrioventricular septal defect without ventricular hypoplasia - - - - - - - - Intermediate atrioventricular septal defect - - - - - - - - SATB2-associated syndrome - - - - - - - - Sporadic human prion disease - - - - - - - - Acquired human prion disease - - - - - - - - Iatrogenic Creutzfeldt-Jakob disease - - - - - - - - Genetic hemolytic uremic syndrome - - - - - - - - Intraductal tubulopapillary neoplasm of pancreas - - - - - - - - Lethal brain and heart developmental defects - - - - - - - - Congenital infiltrating lipomatosis of the face - - - - - - - - Serine biosynthesis pathway deficiency, infantile/juvenile form - - - - - - - - Neu-laxova syndrome due to phosphoserine aminotransferase deficiency - - - - - - - - Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - - - - - - - Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency - - - - - - - - Isolated splenic vein thrombosis - - - - - - - - Isolated mesenteric vein thrombosis - - - - - - - - Acute myeloid leukemia with t(9;22)(q34.1;q11.2) - - - - - - - - B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality - - - - - - - - B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) - - - - - - - - B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) - - - - - - - - B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) - - - - - - - - B-lymphoblastic leukemia/lymphoma with hyperdiploidy - - - - - - - - B-lymphoblastic leukemia/lymphoma with hypodiploidy - - - - - - - - B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) - - - - - - - - B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) - - - - - - - - Sporadic fatal insomnia - - - - - - - - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome - - - - - - - - PUM1-associated developmental disability-ataxia-seizure syndrome - - - - - - - - Spinocerebellar ataxia type 46 - - - - - - - - Spinocerebellar ataxia type 45 - - - - - - - - Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) - - - - - - - - Myeloid/lymphoid neoplasm associated with JAK2 rearrangement - - - - - - - - GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder - - - - - - - - Mixed phenotype acute leukemia with t(v;11q23.3) - - - - - - - - Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies - - - - - - - - Dystonia 28 - - - - - - - - Inherited gynecological cancer-predisposing syndrome - - - - - - - - Congenital-onset Steinert myotonic dystrophy - - - - - - - - Childhood-onset Steinert myotonic dystrophy - - - - - - - - Juvenile-onset Steinert myotonic dystrophy - - - - - - - - Adult-onset Steinert myotonic dystrophy - - - - - - - - Late-onset Steinert myotonic dystrophy - - - - - - - - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome - - - - - - - - PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome - - - - - - - - Isolated melanotic schwannoma - - - - - - - - GNAO1-related developmental delay-seizures-movement disorder spectrum - - - - - - - - Congenital factor V deficiency - - - - - - - - TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome - - - - - - - - Menke-Hennekam syndrome - - - - - - - - Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies - - - - - - - - Neuromyelitis optica spectrum disorder with anti-MOG antibodies - - - - - - - - Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies - - - - - - - - Acute transverse myelitis with anti-MOG antibodies - - - - - - - - Isolated optic neuritis without anti-MOG antibodies - - - - - - - - Isolated optic neuritis with anti-MOG antibodies - - - - - - - - Acute disseminated encephalomyelitis with anti-MOG antibodies - - - - - - - - Acute disseminated encephalomyelitis without anti-MOG antibodies - - - - - - - - Congenital factor VII deficiency - - - - - - - - Timothy syndrome type 1 - - - - - - - - Timothy syndrome type 2 - - - - - - - - Atypical Timothy syndrome - - - - - - - - Perivascular epithelioid cell neoplasm - - - - - - - - Fibrous dysplasia/McCune-Albright syndrome - - - - - - - - Adrenal hypoplasia congenita - - - - - - - - Epidermolysis bullosa simplex without extracutaneous involvement - - - - - - - - Epidermolysis bullosa simplex with extracutaneous involvement - - - - - - - - Localized dystrophic epidermolysis bullosa - - - - - - - - Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis - - - - - - - - Syndrome of reduced sensitivity to thyroid hormone - - - - - - - - IgG4-related systemic disease - - - - - - - - Combined immunodeficiency due to RELA haploinsufficiency - - - - - - - - Portosinusoidal vascular disease - - - - - - - - Incomplete septal cirrhosis - - - - - - - - TRIM22-related inflammatory bowel disease - - - - - - - - IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome - - - - - - - - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome - - - - - - - - Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome - - - - - - - - KAT6B-related multiple congenital anomalies syndrome - - - - - - - - Radio-renal syndrome - - - - - - - - ALPI-related inflammatory bowel disease - - - - - - - - Euthyroid dysprealbuminemic hyperthyroxinemia - - - - - - - - FOXG1 syndrome due to intragenic alteration - - - - - - - - Multisystem inflammatory syndrome in children and adults - - - - - - - - STXBP1-related encephalopathy - - - - - - - - Hypomyelination of early myelinating structures - - - - - - - - Hereditary angioedema with normal C1Inh not related to F12 or PLG variant - - - - - - - - Acquired hemophilia B - - - - - - - - Acquired factor V deficiency - - - - - - - - Acquired factor VII deficiency - - - - - - - - Acquired factor X deficiency - - - - - - - - Acquired factor XI deficiency - - - - - - - - Acquired factor XIII deficiency - - - - - - - - Factor V short isoforms-related bleeding disorder - - - - - - - - Factor V Amsterdam bleeding disorder - - - - - - - - Factor V Atlanta bleeding disorder - - - - - - - - NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance - - - - - - - - CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome - - - - - - - - Combined deficiency of factor VII and factor X - - - - - - - - Legionellosis - - - - - - - - Non-syndromic anorectal malformation with perineal fistula - - - - - - - - Non-syndromic anorectal malformation with rectourethral fistula - - - - - - - - Non-syndromic anorectal malformation with rectourethral fistula, bulbar type - - - - - - - - Non-syndromic anorectal malformation with rectourethral fistula, prostatic type - - - - - - - - Non-syndromic anorectal malformation with rectovesical fistula - - - - - - - - Non-syndromic anorectal malformation with vestibular fistula - - - - - - - - Non-syndromic cloacal malformation - - - - - - - - Non-syndromic anorectal malformation without fistula - - - - - - - - Non-syndromic anorectal malformation with anal stenosis - - - - - - - - Non-syndromic anorectal malformation with pouch colon - - - - - - - - Non-syndromic anorectal malformation with rectal atresia - - - - - - - - Non-syndromic anorectal malformation with rectal stenosis - - - - - - - - Non-syndromic anorectal malformation with rectovaginal fistula - - - - - - - - Non-syndromic anorectal malformation with H-type fistula - - - - - - - - Isolated female hypospadias - - - - - - - - KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome - - - - - - - - KLHL7-related Bohring-Opitz-like syndrome - - - - - - - - KLHL7-related cold-induced sweating-like syndrome - - - - - - - - KLHL7-related disorder - - - - - - - - Symptomatic form of X-linked centronuclear myopathy in female carriers - - - - - - - - Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome - - - - - - - - Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability - - - - - - - - Granuloma faciale - - - - - - - - Chronic intervillositis of unknown etiology - - - - - - - - Rare disorder without a determined diagnosis after full investigation - - - - - - - - Twin anemia-polycythemia sequence - - - - - - - - Twin-reversed arterial perfusion sequence - - - - - - - - Selective intrauterine growth restriction - - - - - - - - Amniotic fluid embolism - - - - - - - - Rare disorder related to monochorionic twin pregnancy - - - - - - - - Tetralogy of Fallot - - - - - - - - Rare disorder due to unbalanced inter-twin blood transfusion - - - - - - - - Rare disorder due to inadequate sharing of the placenta - - - - - - - - Classic eosinophilic pustular folliculitis - - - - - - - - Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome - - - - - - - - F12-associated cold autoinflammatory syndrome - - - - - - - - Hemophilia B Leyden - - - - - - - - Chronic neurovisceral acid sphingomyelinase deficiency - - - - - - - - Acid sphingomyelinase deficiency - - - - - - - - Hereditary persistence of fetal hemoglobin-intellectual disability syndrome - - - - - - - - Rare hereditary connective tissue disease - - - - - - - - Narcolepsy - - - - - - - - Inherited hematologic cancer-predisposing syndrome - - - - - - - - Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 - - - - - - - - SAMD9L-associated autoinflammatory syndrome - - - - - - - - Immune deficiency due to impaired neutrophil phagocytosis and migration - - - - - - - - Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome - - - - - - - - Familial hyperinflammatory lymphoproliferative immunodeficiency - - - - - - - - CADINS disease - - - - - - - - Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome - - - - - - - - Non-syndromic unisutural craniosynostosis - - - - - - - - Non-syndromic unicoronal craniosynostosis - - - - - - - - Non-syndromic unilambdoid craniosynostosis - - - - - - - - Non-syndromic unifrontosphenoidal craniosynostosis - - - - - - - - Non-syndromic unisquamosal craniosynostosis - - - - - - - - Non-syndromic multisutural craniosynostosis - - - - - - - - Non-syndromic non-specific multisutural craniosynostosis - - - - - - - - Non-syndromic bilambdoid craniosynostosis - - - - - - - - Non-syndromic unicoronal and sagittal craniosynostosis - - - - - - - - Non-syndromic metopic and sagittal craniosynostosis - - - - - - - - Non-syndromic bicoronal and metopic craniosynostosis - - - - - - - - Non-syndromic bicoronal and sagittal craniosynostosis - - - - - - - - Non-syndromic pansynostosis - - - - - - - - Bartter syndrome type 1 - - - - - - - - Bartter syndrome type 2 - - - - - - - - Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome - - - - - - - - EGF-related primary hypomagnesemia with intellectual disability - - - - - - - - Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation - - - - - - - - Fibrosis-neurodegeneration-cerebral angiomatosis syndrome - - - - - - - - Genetic autoinflammatory syndrome with skin involvement - - - - - - - - Rare genetic nevus - - - - - - - - Familial thoracic aortic aneurysm and aortic dissection - - - - - - - - X-linked severe syndromic thoracic aortic aneurysm and dissection - - - - - - - - SBDS-related severe neonatal spondylometaphyseal dysplasia - - - - - - - - Autoimmune limbic encephalitis - - - - - - - - Paraneoplastic cerebellar degeneration - - - - - - - - Immune-mediated cerebellar ataxia - - - - - - - - MIR140-related spondyloepiphyseal dysplasia - - - - - - - - Body integrity dysphoria - - - - - - - - Non-specific autoimmune supratentorial encephalitis with characteristic antibodies - - - - - - - - Non-specific autoimmune supratentorial encephalitis without characteristic antibodies - - - - - - - - Paraneoplastic isolated brainstem encephalitis - - - - - - - - Radial hemimelia - - - - - - - - - Band heterotopia - - - - - - - - Non-specific autoimmune brainstem encephalitis with characteristic antibodies - - - - - - - - Non-specific autoimmune brainstem encephalitis without characteristic antibodies - - - - - - - - Postinfectious cerebellitis - - - - - - - - Non-specific autoimmune cerebellar ataxia with characteristic antibodies - - - - - - - - Non-specific autoimmune cerebellar ataxia without characteristic antibodies - - - - - - - - Rare teratologic disease - - - - - - - - Rare hepatic disease - - - - - - - - Rare maxillo-facial surgical disease - - - - - - - - Rare inborn errors of metabolism - - - - - - - - Rare infectious disease - - - - - - - - Rare skin disease - - - - - - - - Rare bone disease - - - - - - - - Rare renal disease - - - - - - - - Rare developmental defect during embryogenesis - - - - - - - - Rare gynecologic or obstetric disease - - - - - - - - Rare cardiac disease - - - - - - - - Rare gastroenterologic disease - - - - - - - - Rare respiratory disease - - - - - - - - Rare surgical thoracic disease - - - - - - - - Rare surgical cardiac disease - - - - - - - - Non-acquired combined pituitary hormone deficiency - - - - - - - - Rare ophthalmic disorder - - - - - - - - Rare endocrine disease - - - - - - - - Rare hematologic disease - - - - - - - - Rare immune disease - - - - - - - - Rare neurologic disease - - - - - - - - Rare systemic or rheumatologic disease - - - - - - - - Rare odontologic disease - - - - - - - - Rare circulatory system disease - - - - - - - - Rare otorhinolaryngologic disease - - - - - - - - Rare infertility - - - - - - - - Rare allergic disease - - - - - - - - Rare genetic disease - - - - - - - - Rare urogenital disease - - - - - - - - Rare disorder due to toxic effects - - - - - - - - Rare abdominal surgical disease - - - - - - - - Rare neoplastic disease - - - - - - - - Rare disorder potentially indicated for transplant or complication after transplantation - - - - - - - - - Intellectual developmental disorder, autosomal recessive 1 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 2 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 3 - - - - - - - - Familial nasal acilia - - - - - - - - - Intellectual developmental disorder, autosomal recessive 12 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 5 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 6 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 7 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 9 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 10 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 11 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 4 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 13 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 14 - - - - - - - - - Rafiq syndrome - - - - - - - - - Intellectual developmental disorder, autosomal recessive 16 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy - - - - - - - - - Intellectual developmental disorder, autosomal recessive 31 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 29 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 27 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 33 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 30 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 19 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 23 - - - - - - - - Polydactyly of an index finger - - - - - - - - - Intellectual developmental disorder, autosomal recessive 24 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 25 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 28 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly - - - - - - - - - Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities - - - - - - - - - Intellectual developmental disorder, autosomal recessive 43 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 44 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 45 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 46 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 47 - - - - - - - - Autosomal dominant epilepsy with auditory features - - - - - - - - - Intellectual developmental disorder, autosomal recessive 50 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 51 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 52 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 54 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 56 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 57 - - - - - - - - - Neurodevelopmental disorder with microcephaly, ataxia, and seizures - - - - - - - - - Glycosylphosphatidylinositol biosynthesis defect 16 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 65 - - - - - - - - - Intellectual developmental disorder, autosomal recessive 66 - - - - - - - - Familial porencephaly - - - - - - - - - Intellectual developmental disorder, autosomal recessive 70 - - - - - - - - - Intellectual developmental disorder with short stature and behavioral abnormalities - - - - - - - - - Deafness, autosomal recessive 2 - - - - - - - - - Deafness, autosomal recessive 3 - - - - - - - - - Deafness, autosomal recessive 4, with enlarged vestibular aqueduct - - - - - - - - - Deafness, autosomal recessive 5 - - - - - - - - - Deafness, autosomal recessive 6 - - - - - - - - - Deafness, autosomal recessive 7 - - - - - - - - - Deafness, autosomal recessive 9 - - - - - - - - - Deafness, autosomal recessive 8 - - - - - - - - Familial supernumerary nipples - - - - - - - - - Deafness, autosomal recessive 12 - - - - - - - - - Deafness, autosomal recessive 15 - - - - - - - - - Deafness, autosomal recessive 18a - - - - - - - - - Deafness, autosomal recessive 17 - - - - - - - - - Deafness, autosomal recessive 13 - - - - - - - - - Deafness, autosomal recessive 21 - - - - - - - - - Deafness, autosomal recessive 14 - - - - - - - - - Deafness, autosomal recessive 16 - - - - - - - - - Deafness, autosomal recessive 20 - - - - - - - - - Deafness, autosomal recessive 26 - - - - - - - - Rabson-Mendenhall syndrome - - - - - - - - - Deafness, autosomal recessive 27 - - - - - - - - - Deafness, autosomal recessive 22 - - - - - - - - - Deafness, autosomal recessive 31 - - - - - - - - - Deafness, autosomal recessive 30 - - - - - - - - - Deafness, autosomal recessive 33 - - - - - - - - - Deafness, autosomal recessive 37 - - - - - - - - - Deafness, autosomal recessive 38 - - - - - - - - - Deafness, autosomal recessive 40 - - - - - - - - - Deafness, autosomal recessive 39 - - - - - - - - - Deafness, autosomal recessive 35 - - - - - - - - - Deafness, autosomal recessive 32, with or without immotile sperm - - - - - - - - - Deafness, autosomal recessive 36, with or without vestibular involvement - - - - - - - - - Deafness, autosomal recessive 48 - - - - - - - - - Deafness, autosomal recessive 23 - - - - - - - - - Deafness, autosomal recessive 42 - - - - - - - - - Deafness, autosomal recessive 46 - - - - - - - - - Deafness, autosomal recessive 53 - - - - - - - - - Deafness, autosomal recessive 28 - - - - - - - - - Deafness, autosomal recessive 62 - - - - - - - - - Deafness, autosomal recessive 49 - - - - - - - - - Deafness, autosomal recessive 44 - - - - - - - - - Deafness, autosomal recessive 66 - - - - - - - - - Deafness, autosomal recessive 59 - - - - - - - - - Deafness, autosomal recessive 65 - - - - - - - - - Deafness, autosomal recessive 67 - - - - - - - - - Deafness, autosomal recessive 68 - - - - - - - - - Deafness, autosomal recessive 24 - - - - - - - - - Deafness, autosomal recessive 63 - - - - - - - - - Deafness, autosomal recessive 45 - - - - - - - - - Deafness, autosomal recessive 1b - - - - - - - - - Deafness, autosomal recessive 71 - - - - - - - - - Deafness, autosomal recessive 77 - - - - - - - - - Deafness, autosomal recessive 25 - - - - - - - - - Deafness, autosomal recessive 79 - - - - - - - - - Deafness, autosomal recessive 84a - - - - - - - - - Deafness, autosomal recessive 85 - - - - - - - - - Deafness, autosomal recessive 91 - - - - - - - - - Deafness, autosomal recessive 83 - - - - - - - - - Deafness, autosomal recessive 74 - - - - - - - - - Deafness, autosomal recessive 61 - - - - - - - - - Deafness, autosomal recessive 89 - - - - - - - - - Deafness, autosomal recessive 29 - - - - - - - - - Deafness, autosomal recessive 96 - - - - - - - - - Deafness, autosomal recessive 86 - - - - - - - - - Deafness, autosomal recessive 98 - - - - - - - - - Deafness, autosomal recessive 93 - - - - - - - - - Deafness, autosomal recessive 70 - - - - - - - - - Deafness, autosomal recessive 84b - - - - - - - - - Deafness, autosomal recessive 18b - - - - - - - - - Deafness, autosomal recessive 88 - - - - - - - - - Deafness, autosomal recessive 76 - - - - - - - - - Deafness, autosomal recessive 101 - - - - - - - - - Deafness, autosomal recessive 102 - - - - - - - - - Deafness, autosomal recessive 103 - - - - - - - - - Deafness, autosomal recessive 104 - - - - - - - - - Deafness, autosomal recessive 97 - - - - - - - - - Deafness, autosomal recessive 106 - - - - - - - - - Deafness, autosomal recessive 107 - - - - - - - - - Deafness, autosomal recessive 108 - - - - - - - - - Deafness, autosomal recessive 111 - - - - - - - - - Deafness, autosomal recessive 100 - - - - - - - - - Deafness, autosomal recessive 94 - - - - - - - - - Deafness, autosomal recessive 114 - - - - - - - - - Deafness, autosomal recessive 99 - - - - - - - - - Deafness, autosomal recessive 116 - - - - - - - - - Deafness, autosomal recessive 117 - - - - - - - - - Intellectual developmental disorder, x-linked 23 - - - - - - - - - Intellectual developmental disorder, x-linked 20 - - - - - - - - - Intellectual developmental disorder, x-linked 50 - - - - - - - - - Intellectual developmental disorder, x-linked 21 - - - - - - - - - Intellectual developmental disorder, x-linked 58 - - - - - - - - - Intellectual developmental disorder, x-linked 72 - - - - - - - - - Intellectual developmental disorder, x-linked 53 - - - - - - - - - Intellectual developmental disorder, x-linked 73 - - - - - - - - - Intellectual developmental disorder, x-linked 42 - - - - - - - - - Intellectual developmental disorder, x-linked 2 - - - - - - - - - Intellectual developmental disorder, x-linked 81 - - - - - - - - - Intellectual developmental disorder, x-linked 46 - - - - - - - - - Intellectual developmental disorder, x-linked 77 - - - - - - - - - Intellectual developmental disorder, x-linked 45 - - - - - - - - Fanconi-Bickel syndrome - - - - - - - - - Intellectual developmental disorder, x-linked 84 - - - - - - - - - Mental retardation, x-linked 82 - - - - - - - - - Intellectual developmental disorder, x-linked 30 - - - - - - - - - Chromosome xp11.22 duplication syndrome - - - - - - - - - Intellectual developmental disorder, x-linked 95 - - - - - - - - - Intellectual developmental disorder, x-linked 96 - - - - - - - - - Intellectual developmental disorder, x-linked 97 - - - - - - - - - Intellectual developmental disorder, x-linked 19 - - - - - - - - - Mental retardation, x-linked 89 - - - - - - - - - Intellectual developmental disorder, x-linked 41 - - - - - - - - - Intellectual developmental disorder, x-linked 90 - - - - - - - - - Mental retardation, x-linked 92 - - - - - - - - - Mental retardation, x-linked 88 - - - - - - - - - Intellectual developmental disorder, x-linked 99 - - - - - - - - - Intellectual developmental disorder, x-linked 101 - - - - - - - - - Tonne-kalscheuer syndrome - - - - - - - - - Intellectual developmental disorder, x-linked 104 - - - - - - - - - Intellectual developmental disorder, x-linked 105 - - - - - - - - - Intellectual developmental disorder, x-linked 107 - - - - - - - - - Intellectual developmental disorder, x-linked 1 - - - - - - - - - Intellectual developmental disorder, x-linked 9 - - - - - - - - Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome - - - - - - - - Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome - - - - - - - - Gollop-Wolfgang complex - - - - - - - - Femur-fibula-ulna complex - - - - - - - - Ataxia-photosensitivity-short stature syndrome - - - - - - - - Gómez-López-Hernández syndrome - - - - - - - - - Fetal akinesia syndrome, x-linked - - - - - - - - Aminopterin/methotrexate embryofetopathy - - - - - - - - Fetal and neonatal alloimmune thrombocytopenia - - - - - - - - Blepharophimosis-ptosis-epicanthus inversus syndrome - - - - - - - - Microcephaly-deafness-intellectual disability syndrome - - - - - - - - Indomethacin embryofetopathy - - - - - - - - Fetal iodine syndrome - - - - - - - - Congenital left ventricular aneurysm - - - - - - - - Fetal minoxidil syndrome - - - - - - - - CACH syndrome - - - - - - - - Thalidomide embryopathy - - - - - - - - FG syndrome type 1 - - - - - - - - Medullary sponge kidney - - - - - - - - Congenital fibrinogen deficiency - - - - - - - - Fibrochondrogenesis - - - - - - - - Birt-Hogg-Dubé syndrome - - - - - - - - Gingival fibromatosis-hypertrichosis syndrome - - - - - - - - Fibrosarcoma - - - - - - - - Fibular aplasia-ectrodactyly syndrome - - - - - - - - Absence of fingerprints-congenital milia syndrome - - - - - - - - AGel amyloidosis - - - - - - - - D-glyceric aciduria - - - - - - - - Spastic paraplegia-nephritis-deafness syndrome - - - - - - - - Paraplegia-intellectual disability-hyperkeratosis syndrome - - - - - - - - FLOTCH syndrome - - - - - - - - Flynn-Aird syndrome - - - - - - - - Foix-Chavany-Marie syndrome - - - - - - - - Follicular lymphoma - - - - - - - - Hydrocephalus-blue sclerae-nephropathy syndrome - - - - - - - - Cardiospondylocarpofacial syndrome - - - - - - - - Fowler urethral sphincter dysfunction syndrome - - - - - - - - Dahlberg-Borer-Newcomer syndrome - - - - - - - - Frasier syndrome - - - - - - - - FRAXE intellectual disability - - - - - - - - Odontomatosis-aortae esophagus stenosis syndrome - - - - - - - - Osteochondrosis of the metatarsal bone - - - - - - - - Odontotrichomelic syndrome - - - - - - - - 14q22q23 microdeletion syndrome - - - - - - - - Say-Barber-Miller syndrome - - - - - - - - Frontofacionasal dysplasia - - - - - - - - Frontonasal dysplasia - - - - - - - - Diaphragmatic defect-limb deficiency-skull defect syndrome - - - - - - - - Fructose-1,6-bisphosphatase deficiency - - - - - - - - Upper limb mesomelic dysplasia - - - - - - - - Fryns-Smeets-Thiry syndrome - - - - - - - - Scalp defects-postaxial polydactyly syndrome - - - - - - - - Fuhrmann syndrome - - - - - - - - Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome - - - - - - - - Furuncular myiasis - - - - - - - - Fused mandibular incisors - - - - - - - - Galactokinase deficiency - - - - - - - - Galactosemia - - - - - - - - Growth delay-hydrocephaly-lung hypoplasia syndrome - - - - - - - - Cystathioninuria - - - - - - - - Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 - - - - - - - - Trigonocephaly-short stature-developmental delay syndrome - - - - - - - - Ganglioglioma - - - - - - - - GM1 gangliosidosis type 3 - - - - - - - - X-linked Alport syndrome-diffuse leiomyomatosis - - - - - - - - Ménétrier disease - - - - - - - - Gastroenteropancreatic neuroendocrine neoplasm - - - - - - - - Gastrocutaneous syndrome - - - - - - - - Gaucher disease type 1 - - - - - - - - Gaucher disease type 2 - - - - - - - - Gaucher disease type 3 - - - - - - - - Geleophysic dysplasia - - - - - - - - Gemignani syndrome - - - - - - - - Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome - - - - - - - - Holoprosencephaly-craniosynostosis syndrome - - - - - - - - - Mycobacterium tuberculosis, susceptibility to - - - - - - - - Schisis association - - - - - - - - Genitopalatocardiac syndrome - - - - - - - - German syndrome - - - - - - - - Large congenital melanocytic nevus - - - - - - - - SCARF syndrome - - - - - - - - Bernard-Soulier syndrome - - - - - - - - - Fibromatosis, gingival, 2 - - - - - - - - - Fibromatosis, gingival, 4 - - - - - - - - Glanzmann thrombasthenia - - - - - - - - Cataract-deafness-hypogonadism syndrome - - - - - - - - Glaucoma-sleep apnea syndrome - - - - - - - - Congenital glaucoma - - - - - - - - Pediatric-onset glaucoma of genetic origin - - - - - - - - - Craniodiaphyseal dysplasia, autosomal dominant - - - - - - - - - Glaucoma 3, primary infantile, b - - - - - - - - Glioblastoma - - - - - - - - - Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome - - - - - - - - Glucagonoma - - - - - - - - Familial glucocorticoid deficiency - - - - - - - - Generalized glucocorticoid resistance syndrome - - - - - - - - Schwartz-Jampel syndrome - - - - - - - - Glycogen storage disease due to hepatic glycogen synthase deficiency - - - - - - - - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib - - - - - - - - Glycogen storage disease due to glycogen branching enzyme deficiency - - - - - - - - Sandhoff disease - - - - - - - - GMS syndrome - - - - - - - - XY type gonadal dysgenesis-associated anomalies syndrome - - - - - - - - Perrault syndrome - - - - - - - - Gonococcal conjunctivitis - - - - - - - - Goodman syndrome - - - - - - - - Anti-glomerular basement membrane disease - - - - - - - - Gordon syndrome - - - - - - - - Cystic hamartoma of lung and kidney - - - - - - - - Grant syndrome - - - - - - - - Gray platelet syndrome - - - - - - - - Griscelli syndrome type 1 - - - - - - - - Deafness-small bowel diverticulosis-neuropathy syndrome - - - - - - - - Intellectual disability-balding-patella luxation-acromicria syndrome - - - - - - - - Myhre syndrome - - - - - - - - Grubben-de Cock-Borghgraef syndrome - - - - - - - - Guanidinoacetate methyltransferase deficiency - - - - - - - - - Osteopetrosis, autosomal recessive 1 - - - - - - - - Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome - - - - - - - - X-linked corneal dermoid - - - - - - - - Hall-Riggs syndrome - - - - - - - - Digital extensor muscle aplasia-polyneuropathy - - - - - - - - Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome - - - - - - - - Emery-Nelson syndrome - - - - - - - - Hand-foot-genital syndrome - - - - - - - - Extensor tendons of finger anomalies - - - - - - - - Parana hard skin syndrome - - - - - - - - Walker-Warburg syndrome - - - - - - - - Cat-eye syndrome - - - - - - - - Early-onset cerebellar ataxia with retained tendon reflexes - - - - - - - - Harrod syndrome - - - - - - - - Short stature-craniofacial anomalies-genital hypoplasia syndrome - - - - - - - - - Progressive familial heart block, type ib - - - - - - - - Heart defects-limb shortening syndrome - - - - - - - - Heart-hand syndrome type 3 - - - - - - - - NARP syndrome - - - - - - - - HEC syndrome - - - - - - - - Trismus-pseudocamptodactyly syndrome - - - - - - - - FATCO syndrome - - - - - - - - - Hemangiopericytoma, malignant - - - - - - - - Isolated hemihyperplasia - - - - - - - - Bencze syndrome - - - - - - - - Hemimegalencephaly - - - - - - - - - Migraine, familial hemiplegic, 1 - - - - - - - - Lowry-Wood syndrome - - - - - - - - Hemoglobin C disease - - - - - - - - Hemoglobin E disease - - - - - - - - Lethal hemolytic anemia-genital anomalies syndrome - - - - - - - - Trichodental syndrome - - - - - - - - Heparin-induced thrombocytopenia - - - - - - - - Hepatic cystic hamartoma - - - - - - - - Hepatoblastoma - - - - - - - - Tyrosinemia type 1 - - - - - - - - Hereditary methemoglobinemia - - - - - - - - Keipert syndrome - - - - - - - - Hidrotic ectodermal dysplasia, Christianson-Fourie type - - - - - - - - Congenital high-molecular-weight kininogen deficiency - - - - - - - - IVIC syndrome - - - - - - - - Hip dysplasia, Beukes type - - - - - - - - Hirschsprung disease-ganglioneuroblastoma syndrome - - - - - - - - Cat-scratch disease - - - - - - - - Nicolaides-Baraitser syndrome - - - - - - - - Hirschsprung disease-type D brachydactyly syndrome - - - - - - - - His bundle tachycardia - - - - - - - - Histidinuria-renal tubular defect syndrome - - - - - - - - 3-hydroxy-3-methylglutaryl-CoA synthase deficiency - - - - - - - - Hodgkin lymphoma - - - - - - - - VACTERL with hydrocephalus - - - - - - - - Holocarboxylase synthetase deficiency - - - - - - - - Holoprosencephaly-caudal dysgenesis syndrome - - - - - - - - Hartsfield syndrome - - - - - - - - Holoprosencephaly-radial heart renal anomalies syndrome - - - - - - - - Holzgreve syndrome - - - - - - - - Wrinkly skin syndrome - - - - - - - - Homocystinuria due to methylene tetrahydrofolate reductase deficiency - - - - - - - - X-linked immunoneurologic disorder - - - - - - - - Atrioventricular defect-blepharophimosis-radial and anal defect syndrome - - - - - - - - Humero-radial synostosis - - - - - - - - Humero-radio-ulnar synostosis - - - - - - - - Humerus trochlea aplasia - - - - - - - - Hunter-McAlpine syndrome - - - - - - - - Trigonocephaly-broad thumbs syndrome - - - - - - - - - Hypogonadotropic hypogonadism 12 with or without anosmia - - - - - - - - Cystic echinococcosis - - - - - - - - X-linked intellectual disability-plagiocephaly syndrome - - - - - - - - Pilodental dysplasia-refractive errors syndrome - - - - - - - - Hydrocephalus-obesity-hypogonadism syndrome - - - - - - - - Hydrops fetalis - - - - - - - - Hymenolepiasis - - - - - - - - Hyperimmunoglobulinemia D with periodic fever - - - - - - - - Familial hyperaldosteronism type II - - - - - - - - Familial hyperaldosteronism type I - - - - - - - - Transient familial neonatal hyperbilirubinemia - - - - - - - - Dubin-Johnson syndrome - - - - - - - - Familial hypocalciuric hypercalcemia type 1 - - - - - - - - Catel-Manzke syndrome - - - - - - - - Hidrotic ectodermal dysplasia, Halal type - - - - - - - - Hypereosinophilic syndrome - - - - - - - - Hereditary hyperferritinemia-cataract syndrome - - - - - - - - Isolated glycerol kinase deficiency - - - - - - - - Combined immunodeficiency due to DOCK8 deficiency - - - - - - - - Hyperinsulinism due to glucokinase deficiency - - - - - - - - Lethal osteosclerotic bone dysplasia - - - - - - - - Hyperkeratosis lenticularis perstans - - - - - - - - Epidermolytic palmoplantar keratoderma - - - - - - - - Hyperlysinemia - - - - - - - - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - - - - - - - - Juvenile Paget disease - - - - - - - - Hyperostosis corticalis generalisata - - - - - - - - Primary hyperoxaluria type 1 - - - - - - - - Primary hyperoxaluria type 2 - - - - - - - - Familial primary hyperparathyroidism - - - - - - - - Neonatal severe primary hyperparathyroidism - - - - - - - - Lymphedema-atrial septal defects-facial changes syndrome - - - - - - - - Pterin-4 alpha-carbinolamine dehydratase deficiency - - - - - - - - GTP cyclohydrolase I deficiency - - - - - - - - Hyperprolinemia type 1 - - - - - - - - Maternal hyperthermia-induced birth defects - - - - - - - - Familial hyperthyroidism due to mutations in TSH receptor - - - - - - - - X-linked congenital generalized hypertrichosis - - - - - - - - Acquired hypertrichosis lanuginosa - - - - - - - - Hypertrichosis lanuginosa congenita - - - - - - - - Hypertelorism-hypospadias-polysyndactyly syndrome - - - - - - - - Hypertryptophanemia - - - - - - - - Apolipoprotein A-I deficiency - - - - - - - - - Hypobetalipoproteinemia, familial, 1 - - - - - - - - Autosomal dominant hypocalcemia - - - - - - - - Familial hypocalciuric hypercalcemia type 3 - - - - - - - - Hallermann-Streiff syndrome - - - - - - - - Achondrogenesis - - - - - - - - Familial hypofibrinogenemia - - - - - - - - - Hypogonadotropic hypogonadism 7 with or without anosmia - - - - - - - - CHARGE syndrome - - - - - - - - Hallermann-Streiff-like syndrome - - - - - - - - Familial isolated dilated cardiomyopathy - - - - - - - - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement - - - - - - - - Hypomandibular faciocranial dysostosis - - - - - - - - Müllerian duct anomalies-limb anomalies syndrome - - - - - - - - Familial isolated hypoparathyroidism - - - - - - - - Hypoparathyroidism-sensorineural deafness-renal disease syndrome - - - - - - - - - Hypoparathyroidism, x-linked - - - - - - - - Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome - - - - - - - - Hypoplastic right heart syndrome - - - - - - - - Congenital factor II deficiency - - - - - - - - Hypospadias-intellectual disability, Goldblatt type syndrome - - - - - - - - Schilbach-Rott syndrome - - - - - - - - Hypoxanthine-guanine phosphoribosyltransferase deficiency - - - - - - - - ICF syndrome - - - - - - - - - Keratitis-ichthyosis-deafness syndrome, autosomal recessive - - - - - - - - Ichthyosis follicularis-alopecia-photophobia syndrome - - - - - - - - Ichthyosis hystrix of Curth-Macklin - - - - - - - - Short tarsus-absence of lower eyelashes syndrome - - - - - - - - Ichthyosis-oral and digital anomalies syndrome - - - - - - - - Superficial epidermolytic ichthyosis - - - - - - - - - - Anterior segment dysgenesis 3 - - - - - - - - Hypergonadotropic hypogonadism-cataract syndrome - - - - - - - - - Ciliary dyskinesia with defective radial spokes - - - - - - - - - Ciliary dyskinesia with excessively long cilia - - - - - - - - - Immune deficiency, familial variable - - - - - - - - Short-limb skeletal dysplasia with severe combined immunodeficiency - - - - - - - - Imperforate oropharynx-costovertebral anomalies syndrome - - - - - - - - Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome - - - - - - - - Early-onset progressive encephalopathy with migrant continuous myoclonus - - - - - - - - Infantile myofibromatosis - - - - - - - - Ablepharon macrostomia syndrome - - - - - - - - Rare to-be-classified GARD Diseases - - - - - - - - Infantile spasms-broad thumbs syndrome - - - - - - - - Hereditary sensory and autonomic neuropathy type 4 - - - - - - - - Mosaic variegated aneuploidy syndrome - - - - - - - - Insulin-resistance syndrome type A - - - - - - - - Insulin-resistance syndrome type B - - - - - - - - Insulinoma - - - - - - - - Internal carotid absence - - - - - - - - Multiple intestinal atresia - - - - - - - - - Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked - - - - - - - - Kostmann syndrome - - - - - - - - Cerebral arteriovenous malformation - - - - - - - - Congenital intrinsic factor deficiency - - - - - - - - - Anterior segment dysgenesis 4 - - - - - - - - Coxopodopatellar syndrome - - - - - - - - Isosporiasis - - - - - - - - Blau syndrome - - - - - - - - CLN2 disease - - - - - - - - Spondylometaphyseal dysplasia, Kozlowski type - - - - - - - - Jervell and Lange-Nielsen syndrome - - - - - - - - Jeune syndrome - - - - - - - - Conductive deafness-ptosis-skeletal anomalies syndrome - - - - - - - - Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome - - - - - - - - Arthrogryposis-hyperkeratosis syndrome, lethal form - - - - - - - - Familial articular hypermobility syndrome - - - - - - - - Gingival fibromatosis-progressive deafness syndrome - - - - - - - - Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome - - - - - - - - Juberg-Hayward syndrome - - - - - - - - Jung syndrome - - - - - - - - Juvenile polyposis syndrome - - - - - - - - Hypotrichosis with juvenile macular degeneration - - - - - - - - Juvenile temporal arteritis - - - - - - - - Jacobsen syndrome - - - - - - - - - - Hypogonadotropic hypogonadism 2 with or without anosmia - - - - - - - - - - Hypogonadotropic hypogonadism 1 with or without anosmia - - - - - - - - - - Hypogonadotropic hypogonadism 3 with or without anosmia - - - - - - - - Mesomelic dysplasia, Kantaputra type - - - - - - - - Acrocraniofacial dysostosis - - - - - - - - Kaposiform hemangioendothelioma - - - - - - - - Kapur-Toriello syndrome - - - - - - - - Oculocerebrofacial syndrome, Kaufman type - - - - - - - - PAGOD syndrome - - - - - - - - Autosomal dominant keratitis - - - - - - - - Multiple self-healing squamous epithelioma - - - - - - - - Keratoderma hereditarium mutilans - - - - - - - - Palmoplantar keratoderma-deafness syndrome - - - - - - - - Palmoplantar keratoderma-spastic paralysis syndrome - - - - - - - - Transgrediens et progrediens palmoplantar keratoderma - - - - - - - - Focal palmoplantar and gingival keratoderma - - - - - - - - Keratosis follicularis-dwarfism-cerebral atrophy syndrome - - - - - - - - Serpiginous choroiditis - - - - - - - - CHIME syndrome - - - - - - - - Papillon-Lefèvre syndrome - - - - - - - - Palmoplantar keratoderma-esophageal carcinoma syndrome - - - - - - - - Punctate palmoplantar keratoderma type 1 - - - - - - - - Tyrosinemia type 2 - - - - - - - - Kerion celsi - - - - - - - - Anaplastic large cell lymphoma - - - - - - - - KID syndrome - - - - - - - - Kleine-Levin syndrome - - - - - - - - Hallux varus-preaxial polysyndactyly syndrome - - - - - - - - Robinow syndrome - - - - - - - - Angioosteohypertrophic syndrome - - - - - - - - Lethal Kniest-like dysplasia - - - - - - - - Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome - - - - - - - - Familial partial lipodystrophy, Dunnigan type - - - - - - - - Amelocerebrohypohidrotic syndrome - - - - - - - - Hereditary hyperekplexia - - - - - - - - Saccharopinuria - - - - - - - - Intellectual disability-polydactyly-uncombable hair syndrome - - - - - - - - Kuskokwim syndrome - - - - - - - - Glycogen storage disease due to lactate dehydrogenase deficiency - - - - - - - - Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency - - - - - - - - Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency - - - - - - - - Fatal infantile lactic acidosis with methylmalonic aciduria - - - - - - - - Lambert syndrome - - - - - - - - - Ichthyosis, congenital, autosomal recessive 1 - - - - - - - - Diffuse large B-cell lymphoma - - - - - - - - Lethal Larsen-like syndrome - - - - - - - - Laryngotracheoesophageal cleft - - - - - - - - Sacrococcygeal teratoma - - - - - - - - Laryngocele - - - - - - - - Larynx atresia - - - - - - - - Graham Little-Piccardi-Lassueur syndrome - - - - - - - - - Retinal cone dystrophy 1 - - - - - - - - Fibulo-ulnar hypoplasia-renal anomalies syndrome - - - - - - - - Early-onset parkinsonism-intellectual disability syndrome - - - - - - - - Nail-patella-like renal disease - - - - - - - - Branchio-oculo-facial syndrome - - - - - - - - Senior-Loken syndrome - - - - - - - - Lenz-Majewski hyperostotic dwarfism - - - - - - - - Léri-Weill dyschondrosteosis - - - - - - - - Lethal congenital contracture syndrome type 1 - - - - - - - - Maple syrup urine disease - - - - - - - - Metachromatic leukodystrophy - - - - - - - - Ravine syndrome - - - - - - - - Leukoencephalopathy-palmoplantar keratoderma syndrome - - - - - - - - Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome - - - - - - - - Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome - - - - - - - - Autosomal dominant popliteal pterygium syndrome - - - - - - - - Leydig cell hypoplasia - - - - - - - - Lichen planopilaris - - - - - - - - Lichtenstein syndrome - - - - - - - - Twin to twin transfusion syndrome - - - - - - - - Limb body wall complex - - - - - - - - Distal limb deficiencies-micrognathia syndrome - - - - - - - - Linear verrucous nevus syndrome - - - - - - - - Neutral lipid storage disease - - - - - - - - Pyruvate dehydrogenase E3 deficiency - - - - - - - - Lipoid proteinosis - - - - - - - - Cobblestone lissencephaly - - - - - - - - Loiasis - - - - - - - - Romano-Ward syndrome - - - - - - - - - Long qt syndrome 2 - - - - - - - - - Long qt syndrome 3 - - - - - - - - Loose anagen syndrome - - - - - - - - Wells syndrome - - - - - - - - Oculocerebrorenal syndrome of Lowe - - - - - - - - Wiedemann-Rautenstrauch syndrome - - - - - - - - Lowry-MacLean syndrome - - - - - - - - Cystic fibrosis-gastritis-megaloblastic anemia syndrome - - - - - - - - Lujan-Fryns syndrome - - - - - - - - Yunis-Varon syndrome - - - - - - - - Cerebellar ataxia-hypogonadism syndrome - - - - - - - - Hennekam syndrome - - - - - - - - Lymphangioleiomyomatosis - - - - - - - - Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome - - - - - - - - Lymphatic filariasis - - - - - - - - Meige disease - - - - - - - - - Lymphatic malformation 1 - - - - - - - - Lymphedema-distichiasis syndrome - - - - - - - - Lysinuric protein intolerance - - - - - - - - Dyschromatosis symmetrica hereditaria - - - - - - - - Macroglossia - - - - - - - - Beckwith-Wiedemann syndrome - - - - - - - - Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome - - - - - - - - Blepharophimosis-intellectual disability syndrome, Ohdo type - - - - - - - - Autosomal dominant primary hypomagnesemia with hypocalciuria - - - - - - - - Autosomal recessive spastic paraplegia type 23 - - - - - - - - Multiple pterygium-malignant hyperthermia syndrome - - - - - - - - - Malignant hyperthermia, susceptibility to, 1 - - - - - - - - - Malignant hyperthermia, susceptibility to, 2 - - - - - - - - - Malignant hyperthermia, susceptibility to, 3 - - - - - - - - - Malignant hyperthermia, susceptibility to, 4 - - - - - - - - - Malignant hyperthermia, susceptibility to, 5 - - - - - - - - - Malignant hyperthermia, susceptibility to, 6 - - - - - - - - Malonic aciduria - - - - - - - - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - - - - - - - - Mandibuloacral dysplasia with type A lipodystrophy - - - - - - - - Lung agenesis-heart defect-thumb anomalies syndrome - - - - - - - - Van den Ende-Gupta syndrome - - - - - - - - Marfanoid habitus-autosomal recessive intellectual disability syndrome - - - - - - - - Marie Unna hereditary hypotrichosis - - - - - - - - Oculotrichoanal syndrome - - - - - - - - Osteocraniostenosis - - - - - - - - Lethal recessive chondrodysplasia - - - - - - - - Marfanoid syndrome, De Silva type - - - - - - - - Cataract-intellectual disability-hypogonadism syndrome - - - - - - - - Hennekam-Beemer syndrome - - - - - - - - Young syndrome - - - - - - - - Maternal phenylketonuria - - - - - - - - - Maturity-onset diabetes of the young, type 1 - - - - - - - - McDonough syndrome - - - - - - - - Familial scaphocephaly syndrome, McGillivray type - - - - - - - - McKusick-Kaufman syndrome - - - - - - - - Pontocerebellar hypoplasia type 4 - - - - - - - - Cleft lip/palate-intestinal malrotation-cardiopathy syndrome - - - - - - - - Meacham syndrome - - - - - - - - Meckel syndrome - - - - - - - - Dysraphism-cleft lip/palate-limb reduction defects syndrome - - - - - - - - Pai syndrome - - - - - - - - Holoprosencephaly-postaxial polydactyly syndrome - - - - - - - - Median nodule of the upper lip - - - - - - - - Megacystis-microcolon-intestinal hypoperistalsis syndrome - - - - - - - - Familial visceral myopathy - - - - - - - - Megalencephalic leukoencephalopathy with subcortical cysts - - - - - - - - Megalocornea-intellectual disability syndrome - - - - - - - - Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome - - - - - - - - X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome - - - - - - - - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - - - - - - - - Hoyeraal-Hreidarsson syndrome - - - - - - - - Familial melanoma - - - - - - - - Melhem-Fahl syndrome - - - - - - - - Pancreatic hypoplasia-diabetes-congenital heart disease syndrome - - - - - - - - Myelomeningocele - - - - - - - - Yolk sac tumor - - - - - - - - Cerebrooculonasal syndrome - - - - - - - - Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome - - - - - - - - Intellectual disability, Buenos-Aires type - - - - - - - - Hernández-Aguirre Negrete syndrome - - - - - - - - Tetrasomy 18p - - - - - - - - Skeletal dysplasia-epilepsy-short stature syndrome - - - - - - - - Severe intellectual disability-progressive spastic diplegia syndrome - - - - - - - - X-linked intellectual disability-psychosis-macroorchidism syndrome - - - - - - - - Dacryocystitis-osteopoikilosis syndrome - - - - - - - - Intellectual disability-short stature-hypertelorism syndrome - - - - - - - - Metaphyseal acroscyphodysplasia - - - - - - - - X-linked skeletal dysplasia-intellectual disability syndrome - - - - - - - - - Intellectual disability-hypotonic facies syndrome, x-linked, 1 - - - - - - - - Intellectual disability-spasticity-ectrodactyly syndrome - - - - - - - - Mietens syndrome - - - - - - - - Intellectual disability, Wolff type - - - - - - - - Monoamine oxidase A deficiency - - - - - - - - Atkin-Flaitz syndrome - - - - - - - - Osteopenia-intellectual disability-sparse hair syndrome - - - - - - - - Mesomelic dwarfism-cleft palate-camptodactyly syndrome - - - - - - - - Langer mesomelic dysplasia - - - - - - - - Mesomelic dysplasia, Nievergelt type - - - - - - - - Mesomelic dwarfism, Reinhardt-Pfeiffer type - - - - - - - - Syndactyly type 8 - - - - - - - - Metachondromatosis - - - - - - - - Metaphyseal anadysplasia - - - - - - - - Metaphyseal chondrodysplasia, Spahr type - - - - - - - - Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome - - - - - - - - Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome - - - - - - - - Metatropic dysplasia - - - - - - - - Methimazole embryofetopathy - - - - - - - - Fetal methylmercury syndrome - - - - - - - - Methylcobalamin deficiency type cblE - - - - - - - - Methylcobalamin deficiency type cblG - - - - - - - - Methylmalonic acidemia with homocystinuria - - - - - - - - W syndrome - - - - - - - - Methylmalonic acidemia with homocystinuria, type cblD - - - - - - - - Methylmalonic acidemia with homocystinuria type cblF - - - - - - - - Vitamin B12-unresponsive methylmalonic acidemia - - - - - - - - Mevalonic aciduria - - - - - - - - Multiple benign circumferential skin creases on limbs - - - - - - - - Cranioectodermal dysplasia - - - - - - - - Microbrachycephaly-ptosis-cleft lip syndrome - - - - - - - - Abruzzo-Erickson syndrome - - - - - - - - Microcephalic primordial dwarfism, Toriello type - - - - - - - - Isolated congenital microcephaly - - - - - - - - Microcephaly-albinism-digital anomalies syndrome - - - - - - - - Autosomal dominant primary microcephaly - - - - - - - - Microcephaly-brain defect-spasticity-hypernatremia syndrome - - - - - - - - Microcephaly-cardiomyopathy syndrome - - - - - - - - Acalvaria - - - - - - - - Microcephaly-cervical spine fusion anomalies syndrome - - - - - - - - Microcephaly-glomerulonephritis-marfanoid habitus syndrome - - - - - - - - Mikati-Najjar-Sahli syndrome - - - - - - - - Microcephaly-lymphedema-chorioretinopathy syndrome - - - - - - - - Microcephaly-microcornea syndrome, Seemanova type - - - - - - - - Acatalasemia - - - - - - - - Congenital microcoria - - - - - - - - Microcornea-glaucoma-absent frontal sinuses syndrome - - - - - - - - Isolated arrhinia - - - - - - - - Microgastria-limb reduction defect syndrome - - - - - - - - Autosomal dominant omodysplasia - - - - - - - - Colobomatous microphthalmia - - - - - - - - Microphthalmia with brain and digit anomalies - - - - - - - - Aromatase deficiency - - - - - - - - Microphthalmia-microtia-fetal akinesia syndrome - - - - - - - - Microscopic polyangiitis - - - - - - - - Oculoauriculovertebral spectrum with radial defects - - - - - - - - Microsporidiosis - - - - - - - - Microphthalmia with linear skin defects syndrome - - - - - - - - Miller Fisher syndrome - - - - - - - - Miller-Dieker syndrome - - - - - - - - Mitochondrial DNA-associated Leigh syndrome - - - - - - - - Non-spherocytic hemolytic anemia due to hexokinase deficiency - - - - - - - - Laryngo-onycho-cutaneous syndrome - - - - - - - - Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - - - - - - - - Mitochondrial myopathy-lactic acidosis-deafness syndrome - - - - - - - - Mitochondrial trifunctional protein deficiency - - - - - - - - Mitral atresia - - - - - - - - Familial mitral valve prolapse - - - - - - - - - Mitral valve prolapse 1 - - - - - - - - Xq21 microdeletion syndrome - - - - - - - - Melorheostosis with osteopoikilosis - - - - - - - - Syndromic microphthalmia type 5 - - - - - - - - MMEP syndrome - - - - - - - - MODY - - - - - - - - Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome - - - - - - - - Fryns syndrome - - - - - - - - Partial deletion of the short arm of chromosome 3 - - - - - - - - Cholestasis-lymphedema syndrome - - - - - - - - Orofaciodigital syndrome type 2 - - - - - - - - Choroidal atrophy-alopecia syndrome - - - - - - - - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - - - - - - - Tetramelic monodactyly - - - - - - - - Qazi-Markouizos syndrome - - - - - - - - Distal monosomy 10q - - - - - - - - Neurofibromatosis-Noonan syndrome - - - - - - - - Quinquaud folliculitis decalvans - - - - - - - - 1q41q42 microdeletion syndrome - - - - - - - - Pectus excavatum-macrocephaly-dysplastic nails syndrome - - - - - - - - 2q24 microdeletion syndrome - - - - - - - - Cleft lip/palate-ectodermal dysplasia syndrome - - - - - - - - Distal monosomy 3p - - - - - - - - Acheiropodia - - - - - - - - 6q25 microdeletion syndrome - - - - - - - - Familial monosomy 7 syndrome - - - - - - - - 8p23.1 microdeletion syndrome - - - - - - - - Congenital absence/hypoplasia of fingers excluding thumb, unilateral - - - - - - - - Monosomy 9p - - - - - - - - Johnson neuroectodermal syndrome - - - - - - - - Mucopolysaccharidosis type 4A - - - - - - - - Mucopolysaccharidosis type 4B - - - - - - - - VIPoma - - - - - - - - Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome - - - - - - - - Renal tubular dysgenesis - - - - - - - - Peripheral motor neuropathy-dysautonomia syndrome - - - - - - - - Mounier-Kühn syndrome - - - - - - - - Spastic ataxia-corneal dystrophy syndrome - - - - - - - - Knobloch syndrome - - - - - - - - Mucolipidosis type III - - - - - - - - Mucopolysaccharidosis type 3 - - - - - - - - Arachnodactyly-abnormal ossification-intellectual disability syndrome - - - - - - - - Multicentric carpo-tarsal osteolysis with or without nephropathy - - - - - - - - Multiple carboxylase deficiency - - - - - - - - Multiple endocrine neoplasia type 1 - - - - - - - - Albers-Schönberg osteopetrosis - - - - - - - - Multiple endocrine neoplasia type 2 - - - - - - - - Lethal multiple pterygium syndrome - - - - - - - - Multiple synostoses syndrome - - - - - - - - ADULT syndrome - - - - - - - - Laminin subunit alpha 2-related congenital muscular dystrophy - - - - - - - - TRIM32-related limb-girdle muscular dystrophy R8 - - - - - - - - Zimmermann-Laband syndrome - - - - - - - - Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 - - - - - - - - Becker nevus syndrome - - - - - - - - Glycogen storage disease due to muscle phosphorylase kinase deficiency - - - - - - - - Tetraamelia-multiple malformations syndrome - - - - - - - - Mycetoma - - - - - - - - Classic mycosis fungoides - - - - - - - - Ataxia-pancytopenia syndrome - - - - - - - - Myeloperoxidase deficiency - - - - - - - - Combined immunodeficiency due to ZAP70 deficiency - - - - - - - - Progressive myoclonic epilepsy type 6 - - - - - - - - Myoclonus-cerebellar ataxia-deafness syndrome - - - - - - - - Spinal muscular atrophy-progressive myoclonic epilepsy syndrome - - - - - - - - Progressive myoclonic epilepsy type 1 - - - - - - - - - Myoglobinuria, recurrent - - - - - - - - Myopathy and diabetes mellitus - - - - - - - - Tubular aggregate myopathy - - - - - - - - Mitochondrial myopathy and sideroblastic anemia - - - - - - - - Carey-Fineman-Ziter syndrome - - - - - - - - X-linked myopathy with excessive autophagy - - - - - - - - Inclusion body myositis - - - - - - - - WT limb-blood syndrome - - - - - - - - Endosteal hyperostosis, Worth type - - - - - - - - N syndrome - - - - - - - - Alpha-N-acetylgalactosaminidase deficiency type 3 - - - - - - - - Nijmegen breakage syndrome - - - - - - - - Isolated complex I deficiency - - - - - - - - - Methemoglobin reductase deficiency - - - - - - - - Osteomesopyknosis - - - - - - - - Naegeli-Franceschetti-Jadassohn syndrome - - - - - - - - - Proteasome-associated autoinflammatory syndrome 1 - - - - - - - - Isolated growth hormone deficiency type IB - - - - - - - - Isolated growth hormone deficiency type III - - - - - - - - Growth hormone insensitivity syndrome - - - - - - - - Nasopalpebral lipoma-coloboma syndrome - - - - - - - - Neuronal intestinal pseudoobstruction - - - - - - - - Nathalie syndrome - - - - - - - - Tungiasis - - - - - - - - Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis - - - - - - - - Perlman syndrome - - - - - - - - Radioulnar synostosis-microcephaly-scoliosis syndrome - - - - - - - - Nephropathy-deafness-hyperparathyroidism syndrome - - - - - - - - Nephrosis-deafness-urinary tract-digital malformations syndrome - - - - - - - - Genetic steroid-resistant nephrotic syndrome - - - - - - - - Congenital isolated hyperinsulinism - - - - - - - - Tremor-nystagmus-duodenal ulcer syndrome - - - - - - - - Neuhauser-Eichner-Opitz syndrome - - - - - - - - Retinal degeneration-nanophthalmos-glaucoma syndrome - - - - - - - - Galactosialidosis - - - - - - - - - Amyotrophy, hereditary neuralgic - - - - - - - - Choreoacanthocytosis - - - - - - - - Infantile neuroaxonal dystrophy - - - - - - - - Tularemia - - - - - - - - Neurofaciodigitorenal syndrome - - - - - - - - Neurofibromatosis type 6 - - - - - - - - Neuronal intranuclear inclusion disease - - - - - - - - Navajo neurohepatopathy - - - - - - - - Charcot-Marie-Tooth disease type 4D - - - - - - - - Hereditary sensory and autonomic neuropathy type 2 - - - - - - - - Neutral lipid storage disease with ichthyosis - - - - - - - - X-linked severe congenital neutropenia - - - - - - - - Neutropenia-monocytopenia-deafness syndrome - - - - - - - - Familial multiple nevi flammei - - - - - - - - 46,XX testicular disorder of sex development - - - - - - - - Night blindness-skeletal anomalies-dysmorphism syndrome - - - - - - - - Congenital stationary night blindness - - - - - - - - Ectopia lentis-chorioretinal dystrophy-myopia syndrome - - - - - - - - GAPO syndrome - - - - - - - - Noma - - - - - - - - Maternally-inherited diabetes and deafness - - - - - - - - Progressive epilepsy-intellectual disability syndrome, Finnish type - - - - - - - - Familial LCAT deficiency - - - - - - - - Port-wine nevi-mega cisterna magna-hydrocephalus syndrome - - - - - - - - Occipital horn syndrome - - - - - - - - Primary tethered cord syndrome - - - - - - - - - Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant - - - - - - - - Oculoauriculofrontonasal syndrome - - - - - - - - Oculocerebral hypopigmentation syndrome, Preus type - - - - - - - - Oculocutaneous albinism type 1 - - - - - - - - Oculocutaneous albinism type 2 - - - - - - - - Oculocutaneous albinism type 3 - - - - - - - - Osteoporosis-oculocutaneous hypopigmentation syndrome - - - - - - - - Oculomaxillofacial dysostosis - - - - - - - - Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome - - - - - - - - - 3mc syndrome 1 - - - - - - - - Subaortic stenosis-short stature syndrome - - - - - - - - Severe oculo-renal-cerebellar syndrome - - - - - - - - Odonto-onycho dysplasia-alopecia syndrome - - - - - - - - Odontomicronychial dysplasia - - - - - - - - Odonto-onycho-dermal dysplasia - - - - - - - - Foveal hypoplasia-presenile cataract syndrome - - - - - - - - Orofaciodigital syndrome type 8 - - - - - - - - Orofaciodigital syndrome type 10 - - - - - - - - Infantile-onset spinocerebellar ataxia - - - - - - - - Okamoto syndrome - - - - - - - - Postaxial tetramelic oligodactyly - - - - - - - - Oligomeganephronia - - - - - - - - Oliver syndrome - - - - - - - - Ermine phenotype - - - - - - - - Olivopontocerebellar atrophy-deafness syndrome - - - - - - - - Spinocerebellar ataxia type 1 - - - - - - - - Spinocerebellar ataxia type 2 - - - - - - - - Mutilating palmoplantar keratoderma with periorificial keratotic plaques - - - - - - - - Autosomal recessive omodysplasia - - - - - - - - Lethal omphalocele-cleft palate syndrome - - - - - - - - Short stature due to growth hormone qualitative anomaly - - - - - - - - Cloacal exstrophy - - - - - - - - Omphalomesenteric cyst - - - - - - - - Cooks syndrome - - - - - - - - Poikiloderma with neutropenia - - - - - - - - Pachygyria-intellectual disability-epilepsy syndrome - - - - - - - - Opsismodysplasia - - - - - - - - Renal coloboma syndrome - - - - - - - - Optic pathway glioma - - - - - - - - Sanjad-Sakati syndrome - - - - - - - - Oromandibular-limb hypogenesis syndrome - - - - - - - - Orofaciodigital syndrome type 11 - - - - - - - - X-linked intellectual disability, Shashi type - - - - - - - - Cheilitis glandularis - - - - - - - - Orofaciodigital syndrome type 5 - - - - - - - - Orofaciodigital syndrome type 1 - - - - - - - - OSLAM syndrome - - - - - - - - Geroderma osteodysplastica - - - - - - - - Otospondylomegaepiphyseal dysplasia - - - - - - - - Thiemann disease, familial form - - - - - - - - Familial osteochondritis dissecans - - - - - - - - Familial osteodysplasia, Anderson type - - - - - - - - Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome - - - - - - - - Bamforth-Lazarus syndrome - - - - - - - - Osteoglosphonic dysplasia - - - - - - - - Osteopathia striata-cranial sclerosis syndrome - - - - - - - - Pseudoprogeria syndrome - - - - - - - - Autosomal dominant osteopetrosis type 1 - - - - - - - - - Osteopetrosis, autosomal recessive 5 - - - - - - - - Osteopetrosis with renal tubular acidosis - - - - - - - - Osteopetrosis and related disorders - - - - - - - - Intermediate osteopetrosis - - - - - - - - - Osteopetrosis, autosomal recessive 2 - - - - - - - - Osteoporosis-pseudoglioma syndrome - - - - - - - - Foix-Alajouanine syndrome - - - - - - - - Heart defect-tongue hamartoma-polysyndactyly syndrome - - - - - - - - Otodental syndrome - - - - - - - - Otofaciocervical syndrome - - - - - - - - Otoonychoperoneal syndrome - - - - - - - - Benign paroxysmal tonic upgaze of childhood with ataxia - - - - - - - - Pentosuria - - - - - - - - Overhydrated hereditary stomatocytosis - - - - - - - - Epiphyseal stippling-osteoclastic hyperplasia syndrome - - - - - - - - Extramammary Paget disease - - - - - - - - Hydrocephaly-low insertion umbilicus syndrome - - - - - - - - Tetrasomy 9p - - - - - - - - - Mismatch repair cancer syndrome 1 - - - - - - - - Partial pancreatic agenesis - - - - - - - - Adenoma of pancreas - - - - - - - - Familial pancreatic carcinoma - - - - - - - - Pancreatoblastoma - - - - - - - - Polyostotic fibrous dysplasia - - - - - - - - Papilloma of choroid plexus - - - - - - - - Autosomal dominant spastic paraplegia type 17 - - - - - - - - Parastremmatic dwarfism - - - - - - - - PARC syndrome - - - - - - - - Paris-Trousseau thrombocytopenia - - - - - - - - Idiopathic ventricular fibrillation, non Brugada type - - - - - - - - Neuralgic amyotrophy - - - - - - - - Partial atrioventricular septal defect - - - - - - - - Partington syndrome - - - - - - - - Fetal parvovirus syndrome - - - - - - - - Blepharonasofacial malformation syndrome - - - - - - - - XK aprosencephaly syndrome - - - - - - - - Tufted angioma - - - - - - - - Pseudoleprechaunism syndrome, Patterson type - - - - - - - - Patterson-Stevenson-Fontaine syndrome - - - - - - - - Oligoarticular juvenile idiopathic arthritis - - - - - - - - PEHO syndrome - - - - - - - - Pelizaeus-Merzbacher disease - - - - - - - - Pelizaeus-Merzbacher-like disease due to AIMP1 mutation - - - - - - - - Pelvic dysplasia-arthrogryposis of lower limbs syndrome - - - - - - - - Ptosis-vocal cord paralysis syndrome - - - - - - - - - Pemphigus vulgaris, familial - - - - - - - - Pendred syndrome - - - - - - - - Penile agenesis - - - - - - - - Penoscrotal transposition - - - - - - - - Acroosteolysis-keloid-like lesions-premature aging syndrome - - - - - - - - - Phosphoenolpyruvate carboxykinase deficiency, cytosolic - - - - - - - - - Phosphoenolpyruvate carboxykinase deficiency, mitochondrial - - - - - - - - Craniofrontonasal dysplasia-Poland anomaly syndrome - - - - - - - - Constriction rings syndrome - - - - - - - - - Alopecia-intellectual disability syndrome 2 - - - - - - - - Autosomal recessive distal osteolysis syndrome - - - - - - - - Mosaic trisomy 9 - - - - - - - - Mesomelia-synostoses syndrome - - - - - - - - Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome - - - - - - - - Preaxial polydactyly-colobomata-intellectual disability syndrome - - - - - - - - Pfeiffer-Palm-Teller syndrome - - - - - - - - Microtia - - - - - - - - Phakomatosis pigmentokeratotica - - - - - - - - Phakomatosis pigmentovascularis - - - - - - - - Phenobarbital embryopathy - - - - - - - - Dihydropteridine reductase deficiency - - - - - - - - Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome - - - - - - - - PGM1-CDG - - - - - - - - Apparent mineralocorticoid excess - - - - - - - - PGM3-CDG - - - - - - - - Phosphoribosylpyrophosphate synthetase superactivity - - - - - - - - Hydrocephalus with stenosis of the aqueduct of Sylvius - - - - - - - - Piebaldism - - - - - - - - Autosomal dominant cerebellar ataxia - - - - - - - - Isolated Pierre Robin syndrome - - - - - - - - Cleft lip-retinopathy syndrome - - - - - - - - Late-onset retinal degeneration - - - - - - - - Severe combined immunodeficiency due to FOXN1 deficiency - - - - - - - - Ringed hair disease - - - - - - - - Adult-onset Still disease - - - - - - - - Pili torti - - - - - - - - Pili torti-developmental delay-neurological abnormalities syndrome - - - - - - - - Pili torti-onychodysplasia syndrome - - - - - - - - Ophthalmomandibulomelic dysplasia - - - - - - - - Trichodermodysplasia-dental alterations syndrome - - - - - - - - Pitt-Hopkins syndrome - - - - - - - - Thumb stiffness-brachydactyly-intellectual disability syndrome - - - - - - - - Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 - - - - - - - - Hypoplasminogenemia - - - - - - - - Congenital plasminogen activator inhibitor type 1 deficiency - - - - - - - - Platyspondylic dysplasia, Torrance type - - - - - - - - Pneumocystosis - - - - - - - - Kindler epidermolysis bullosa - - - - - - - - Rothmund-Thomson syndrome - - - - - - - - Haim-Munk syndrome - - - - - - - - Non-syndromic polydactyly - - - - - - - - Orofaciodigital syndrome type 6 - - - - - - - - Polydactyly-myopia syndrome - - - - - - - - - Polydactyly, postaxial, type a1 - - - - - - - - Polydactyly of a biphalangeal thumb - - - - - - - - Catecholaminergic polymorphic ventricular tachycardia - - - - - - - - Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome - - - - - - - - Cronkhite-Canada syndrome - - - - - - - - Polysyndactyly-cardiac malformation syndrome - - - - - - - - Syndactyly type 4 - - - - - - - - Bartsocas-Papas syndrome - - - - - - - - Porencephaly-cerebellar hypoplasia-internal malformations syndrome - - - - - - - - Porokeratosis of Mibelli - - - - - - - - Punctate palmoplantar keratoderma type 2 - - - - - - - - Congenital erythropoietic porphyria - - - - - - - - Postpoliomyelitis syndrome - - - - - - - - Posterior uveitis - - - - - - - - Potassium-aggravated myotonia - - - - - - - - PHAVER syndrome - - - - - - - - Guttmacher syndrome - - - - - - - - Familial male-limited precocious puberty - - - - - - - - Congenital prekallikrein deficiency - - - - - - - - Vici syndrome - - - - - - - - X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome - - - - - - - - Griscelli syndrome type 2 - - - - - - - - Primary ciliary dyskinesia - - - - - - - - Juvenile primary lateral sclerosis - - - - - - - - Intellectual disability-cataracts-calcified pinnae-myopathy syndrome - - - - - - - - Progeria-short stature-pigmented nevi syndrome - - - - - - - - Progeroid syndrome, Petty type - - - - - - - - Congenital varicella syndrome - - - - - - - - Acromelanosis - - - - - - - - Progressive external ophthalmoplegia - - - - - - - - - Deafness, x-linked 2 - - - - - - - - Atypical progressive supranuclear palsy syndrome - - - - - - - - Prolactinoma - - - - - - - - Proliferating trichilemmal cyst - - - - - - - - Properdin deficiency - - - - - - - - Aprosencephaly cerebellar dysgenesis - - - - - - - - Familial prostate cancer - - - - - - - - Transcobalamin I deficiency - - - - - - - - Autosomal erythropoietic protoporphyria - - - - - - - - Corpus callosum agenesis-abnormal genitalia syndrome - - - - - - - - Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome - - - - - - - - Proximal spinal muscular atrophy - - - - - - - - Pseudopelade of Brocq - - - - - - - - Bifunctional enzyme deficiency - - - - - - - - Accessory pancreas - - - - - - - - Pseudoachondroplasia - - - - - - - - Peroxisomal acyl-CoA oxidase deficiency - - - - - - - - Pseudoaminopterin syndrome - - - - - - - - - Achalasia, familial esophageal - - - - - - - - Disorder of sex development-intellectual disability syndrome - - - - - - - - Generalized pseudohypoaldosteronism type 1 - - - - - - - - Pseudohypoaldosteronism type 2 - - - - - - - - Acrootoocular syndrome - - - - - - - - Achalasia-microcephaly syndrome - - - - - - - - Idiopathic intracranial hypertension - - - - - - - - Pterygium colli-intellectual disability-digital anomalies syndrome - - - - - - - - Familial pterygium of the conjunctiva - - - - - - - - Triple A syndrome - - - - - - - - Antecubital pterygium syndrome - - - - - - - - X-linked lethal multiple pterygium syndrome - - - - - - - - Ptosis-strabismus-ectopic pupils syndrome - - - - - - - - Spondylometaphyseal dysplasia, A4 type - - - - - - - - Hereditary pulmonary alveolar proteinosis - - - - - - - - Pulmonary arteriovenous malformation - - - - - - - - Abnormal origin of right or left pulmonary artery from the aorta - - - - - - - - Pulmonary atresia with ventricular septal defect - - - - - - - - Peripheral pulmonary stenosis - - - - - - - - Achondrogenesis type 1A - - - - - - - - Congenital pulmonary sequestration - - - - - - - - Supravalvular pulmonary stenosis - - - - - - - - Pulmonary valve agenesis - - - - - - - - Congenital pulmonary veins atresia or stenosis - - - - - - - - Congenital pulmonary venous return anomaly - - - - - - - - Achondrogenesis type 1B - - - - - - - - Pulmonary atresia-intact ventricular septum syndrome - - - - - - - - Punctate acrokeratoderma freckle-like pigmentation - - - - - - - - Purine nucleoside phosphorylase deficiency - - - - - - - - Immune-mediated thrombotic thrombocytopenic purpura - - - - - - - - Pyknoachondrogenesis - - - - - - - - Pycnodysostosis - - - - - - - - Pyle disease - - - - - - - - Pyomyositis - - - - - - - - Pyruvate dehydrogenase E1-alpha deficiency - - - - - - - - Radial ray hypoplasia-choanal atresia syndrome - - - - - - - - Oculofaciocardiodental syndrome - - - - - - - - Absent radius-anogenital anomalies syndrome - - - - - - - - Leukocyte adhesion deficiency type II - - - - - - - - Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome - - - - - - - - Ramos-Arroyo syndrome - - - - - - - - RAPADILINO syndrome - - - - - - - - External auditory canal atresia-vertical talus-hypertelorism syndrome - - - - - - - - Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome - - - - - - - - Ataxia-deafness-intellectual disability syndrome - - - - - - - - Complex regional pain syndrome - - - - - - - - Infantile Refsum disease - - - - - - - - Isovaleric acidemia - - - - - - - - Renal caliceal diverticuli-deafness syndrome - - - - - - - - NPHP3-related Meckel-like syndrome - - - - - - - - Autosomal recessive distal renal tubular acidosis - - - - - - - - Distal renal tubular acidosis - - - - - - - - Autosomal dominant distal renal tubular acidosis - - - - - - - - Propionic acidemia - - - - - - - - X-linked retinal dysplasia - - - - - - - - Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome - - - - - - - - - Retinitis pigmentosa-deafness syndrome - - - - - - - - Pyramidal molars-abnormal upper lip syndrome - - - - - - - - X-linked retinoschisis - - - - - - - - Atypical Rett syndrome - - - - - - - - Revesz syndrome - - - - - - - - Reynolds syndrome - - - - - - - - Crigler-Najjar syndrome type 1 - - - - - - - - Alveolar rhabdomyosarcoma - - - - - - - - Embryonal rhabdomyosarcoma - - - - - - - - Rhizomelic dysplasia, Patterson-Lowry type - - - - - - - - Polymyalgia rheumatica - - - - - - - - Rhizomelic syndrome, Urbach type - - - - - - - - Richieri Costa-da Silva syndrome - - - - - - - - Richieri Costa-Pereira syndrome - - - - - - - - Isolated right ventricular hypoplasia - - - - - - - - 8q22.1 microdeletion syndrome - - - - - - - - Rigid spine syndrome - - - - - - - - Ring chromosome 17 syndrome - - - - - - - - Robin sequence-oligodactyly syndrome - - - - - - - - - Robinow-sorauf syndrome - - - - - - - - Autosomal dominant deafness-onychodystrophy syndrome - - - - - - - - Roch-Leri mesosomatous lipomatosis - - - - - - - - Mayer-Rokitansky-Küster-Hauser syndrome type 1 - - - - - - - - Rombo syndrome - - - - - - - - Ulna metaphyseal dysplasia syndrome - - - - - - - - Roussy-Lévy syndrome - - - - - - - - Congenital rubella syndrome - - - - - - - - Ruvalcaba syndrome - - - - - - - - Acquired prothrombin deficiency - - - - - - - - Kousseff syndrome - - - - - - - - Salla disease - - - - - - - - Acquired ichthyosis - - - - - - - - Benign schwannoma - - - - - - - - Schwannomatosis - - - - - - - - Congenital muscular dystrophy, Ullrich type - - - - - - - - Sclerosteosis - - - - - - - - Succinyl-CoA:3-oxoacid CoA transferase deficiency - - - - - - - - Aarskog-Scott syndrome - - - - - - - - Craniodigital-intellectual disability syndrome - - - - - - - - Scott syndrome - - - - - - - - Facial dysmorphism-shawl scrotum-joint laxity syndrome - - - - - - - - Testicular seminomatous germ cell tumor - - - - - - - - Isolated cytochrome C oxidase deficiency - - - - - - - - Acro-renal-mandibular syndrome - - - - - - - - Spontaneous periodic hypothermia - - - - - - - - Shigellosis - - - - - - - - Short chain acyl-CoA dehydrogenase deficiency - - - - - - - - Short rib-polydactyly syndrome, Beemer-Langer type - - - - - - - - Short rib-polydactyly syndrome, Majewski type - - - - - - - - Short rib-polydactyly syndrome, Saldino-Noonan type - - - - - - - - Short rib-polydactyly syndrome, Verma-Naumoff type - - - - - - - - Short stature, Brussels type - - - - - - - - Acrofrontofacionasal dysostosis - - - - - - - - Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome - - - - - - - - Short stature-wormian bones-dextrocardia syndrome - - - - - - - - Shprintzen-Goldberg syndrome - - - - - - - - Shwachman-Diamond syndrome - - - - - - - - Sialuria - - - - - - - - Siegler-Brewer-Carey syndrome - - - - - - - - Sillence syndrome - - - - - - - - Silver-Russell syndrome - - - - - - - - Flat face-microstomia-ear anomaly syndrome - - - - - - - - - Solitary median maxillary central incisor - - - - - - - - - Progressive familial heart block, type ii - - - - - - - - - Sinus node disease and myopia - - - - - - - - Multiple endocrine neoplasia type 2A - - - - - - - - Situs inversus totalis - - - - - - - - Mononen-Karnes-Senac syndrome - - - - - - - - Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome - - - - - - - - Soft tissue sarcoma - - - - - - - - Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome - - - - - - - - De Barsy syndrome - - - - - - - - Somatostatinoma - - - - - - - - Congenital heart defect-round face-developmental delay syndrome - - - - - - - - Acrodysplasia scoliosis - - - - - - - - Autosomal recessive spastic ataxia of Charlevoix-Saguenay - - - - - - - - Infantile-onset ascending hereditary spastic paralysis - - - - - - - - Spastic paraplegia-precocious puberty syndrome - - - - - - - - Autosomal recessive spastic paraplegia type 11 - - - - - - - - Spastic paraplegia-neuropathy-poikiloderma syndrome - - - - - - - - Autosomal recessive spastic paraplegia type 18 - - - - - - - - Spastic paraplegia type 2 - - - - - - - - Autosomal recessive spastic paraplegia type 39 - - - - - - - - Autosomal dominant spastic paraplegia type 4 - - - - - - - - Autosomal recessive spastic paraplegia type 5A - - - - - - - - Spastic paraplegia type 7 - - - - - - - - Autosomal dominant spastic paraplegia type 6 - - - - - - - - Spastic paraplegia-glaucoma-intellectual disability syndrome - - - - - - - - Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome - - - - - - - - Weill-Marchesani syndrome - - - - - - - - Juvenile neuronal ceroid lipofuscinosis - - - - - - - - Acrofacial dysostosis, Catania type - - - - - - - - Spina bifida-hypospadias syndrome - - - - - - - - Spinal atrophy-ophthalmoplegia-pyramidal syndrome - - - - - - - - Proximal spinal muscular atrophy type 2 - - - - - - - - - Spinal muscular atrophy with congenital bone fractures 1 - - - - - - - - Spinocerebellar ataxia type 30 - - - - - - - - Autosomal recessive cerebellar ataxia-movement disorder syndrome - - - - - - - - Spinocerebellar ataxia type 5 - - - - - - - - Infantile-onset autosomal recessive nonprogressive cerebellar ataxia - - - - - - - - Spinocerebellar ataxia type 7 - - - - - - - - Spinocerebellar ataxia type 8 - - - - - - - - Spinocerebellar ataxia-dysmorphism syndrome - - - - - - - - Acrofacial dysostosis, Rodríguez type - - - - - - - - Splenogonadal fusion-limb defects-micrognathia syndrome - - - - - - - - Karsch-Neugebauer syndrome - - - - - - - - Czeizel-Losonci syndrome - - - - - - - - Acrofacial dysostosis, Weyers type - - - - - - - - SPONASTRIME dysplasia - - - - - - - - Spondylocamptodactyly syndrome - - - - - - - - - Spondylocostal dysostosis 3, autosomal recessive - - - - - - - - Spondylocarpotarsal synostosis - - - - - - - - - Spondylocostal dysostosis 4, autosomal recessive - - - - - - - - - Brachyolmia type 1, toledo type - - - - - - - - Spondyloenchondrodysplasia - - - - - - - - X-linked spondyloepimetaphyseal dysplasia - - - - - - - - Nager syndrome - - - - - - - - Spondyloepimetaphyseal dysplasia, Shohat type - - - - - - - - Spondyloepimetaphyseal dysplasia with joint laxity - - - - - - - - Schimke immuno-osseous dysplasia - - - - - - - - - Spondyloepiphyseal dysplasia tarda, x-linked - - - - - - - - Spondyloepiphyseal dysplasia congenita - - - - - - - - Acrofacial dysostosis, Palagonia type - - - - - - - - Spondylometaphyseal dysplasia, 'corner fracture' type - - - - - - - - Spondylometaphyseal dysplasia, Sedaghatian type - - - - - - - - Spondyloperipheral dysplasia-short ulna syndrome - - - - - - - - Familial spontaneous pneumothorax - - - - - - - - Abetalipoproteinemia - - - - - - - - Sebocystomatosis - - - - - - - - Steatocystoma multiplex-natal teeth syndrome - - - - - - - - Sternal cleft - - - - - - - - Steroid dehydrogenase deficiency-dental anomalies syndrome - - - - - - - - Stickler syndrome type 1 - - - - - - - - Stickler syndrome type 2 - - - - - - - - Autosomal dominant otospondylomegaepiphyseal dysplasia - - - - - - - - Stiff person spectrum disorder - - - - - - - - Stiff skin syndrome - - - - - - - - Stimmler syndrome - - - - - - - - Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome - - - - - - - - Arthrogryposis-ectodermal dysplasia syndrome - - - - - - - - Alpha delta granule deficiency - - - - - - - - Brachydactyly-mesomelia-intellectual disability-heart defects syndrome - - - - - - - - Spondylometaphyseal dysplasia, Schmidt type - - - - - - - - Infantile bilateral striatal necrosis - - - - - - - - Autosomal dominant spastic paraplegia type 3 - - - - - - - - Stüve-Wiedemann syndrome - - - - - - - - Classic lissencephaly - - - - - - - - Subependymal nodular heterotopia - - - - - - - - Subpulmonary stenosis - - - - - - - - Isolated succinate-CoQ reductase deficiency - - - - - - - - Sugarman brachydactyly - - - - - - - - Acromesomelic dysplasia, Hunter-Thompson type - - - - - - - - Multiple sulfatase deficiency - - - - - - - - Isolated sulfite oxidase deficiency - - - - - - - - Microphthalmia-ankyloblepharon-intellectual disability syndrome - - - - - - - - 46,XY complete gonadal dysgenesis - - - - - - - - Acromesomelic dysplasia, Maroteaux type - - - - - - - - Symmetrical thalamic calcifications - - - - - - - - Distal symphalangism - - - - - - - - Symphalangism with multiple anomalies of hands and feet - - - - - - - - Hajdu-Cheney syndrome - - - - - - - - Syndactyly type 1 - - - - - - - - Cenani-Lenz syndrome - - - - - - - - Syndactyly type 2 - - - - - - - - Syndactyly type 3 - - - - - - - - Syndactyly type 5 - - - - - - - - Syndactyly-polydactyly-ear lobe syndrome - - - - - - - - Syngnathia-cleft palate syndrome - - - - - - - - Dobrow syndrome - - - - - - - - Syringocystadenoma papilliferum - - - - - - - - Systemic primary carnitine deficiency - - - - - - - - Thrombocytopenia-absent radius syndrome - - - - - - - - Acropectorovertebral dysplasia - - - - - - - - Microcephalic osteodysplastic primordial dwarfism types I and III - - - - - - - - Otopalatodigital syndrome type 1 - - - - - - - - Anonychia-microcephaly syndrome - - - - - - - - Autosomal recessive faciodigitogenital syndrome - - - - - - - - Teebi-Shaltout syndrome - - - - - - - - Trigonocephaly-bifid nose-acral anomalies syndrome - - - - - - - - Tel Hashomer camptodactyly syndrome - - - - - - - - Piebald trait-neurologic defects syndrome - - - - - - - - Familial temporal lobe epilepsy - - - - - - - - Frank-Ter Haar syndrome - - - - - - - - Acrorenal syndrome - - - - - - - - Embryonal carcinoma - - - - - - - - Tetanus - - - - - - - - Tetra-amelia - - - - - - - - Tetraploidy - - - - - - - - Inverted duplicated chromosome 15 syndrome - - - - - - - - Thakker-Donnai syndrome - - - - - - - - Progressive deafness with stapes fixation - - - - - - - - Thomas syndrome - - - - - - - - X-linked thrombocytopenia with normal platelets - - - - - - - - Hepatic fibrosis-renal cysts-intellectual disability syndrome - - - - - - - - Thoracic dysplasia-hydrocephalus syndrome - - - - - - - - Thoraco-abdominal enteric duplication - - - - - - - - Thoracolaryngopelvic dysplasia - - - - - - - - KRT1-related diffuse nonepidermolytic keratoderma - - - - - - - - Stormorken-Sjaastad-Langslet syndrome - - - - - - - - Idiopathic acute eosinophilic pneumonia - - - - - - - - - Thrombocytopenia 2 - - - - - - - - Immune thrombocytopenia - - - - - - - - Familial thrombomodulin anomalies - - - - - - - - Thumb deformity-alopecia-pigmentation anomaly syndrome - - - - - - - - Thymic epithelial neoplasm - - - - - - - - Thymic-renal-anal-lung dysplasia - - - - - - - - Familial thyroglossal duct cyst - - - - - - - - - Thyroid cancer, nonmedullary, 2 - - - - - - - - Sweet syndrome - - - - - - - - Absent tibia-polydactyly-arachnoid cyst syndrome - - - - - - - - Tick-borne encephalitis - - - - - - - - Acute lymphoblastic leukemia - - - - - - - - Hereditary neuropathy with liability to pressure palsies - - - - - - - - Toriello-Carey syndrome - - - - - - - - Torticollis-keloids-cryptorchidism-renal dysplasia syndrome - - - - - - - - Skin fragility-woolly hair-palmoplantar keratoderma syndrome - - - - - - - - Weismann-Netter syndrome - - - - - - - - Tracheal agenesis - - - - - - - - Tracheobronchopathia osteochondroplastica - - - - - - - - Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome - - - - - - - - X-linked intellectual disability-seizures-psoriasis syndrome - - - - - - - - Acute megakaryoblastic leukemia - - - - - - - - Autosomal dominant optic atrophy plus syndrome - - - - - - - - Acute monoblastic/monocytic leukemia - - - - - - - - Trichinellosis - - - - - - - - Syndromic diarrhea - - - - - - - - Acute myeloblastic leukemia without maturation - - - - - - - - Trichodysplasia-xeroderma syndrome - - - - - - - - Trichofolliculoma - - - - - - - - Trichomegaly-retina pigmentary degeneration-dwarfism syndrome - - - - - - - - Trichoodontoonychial dysplasia - - - - - - - - Acute myeloblastic leukemia with maturation - - - - - - - - - Trichothiodystrophy 1, photosensitive - - - - - - - - - Trichothiodystrophy 4, nonphotosensitive - - - - - - - - Tricuspid atresia - - - - - - - - Baraitser-Winter cerebrofrontofacial syndrome - - - - - - - - Triopia - - - - - - - - Triose phosphate-isomerase deficiency - - - - - - - - Polydactyly of a triphalangeal thumb - - - - - - - - Acute myelomonocytic leukemia - - - - - - - - Triphalangeal thumbs-brachyectrodactyly syndrome - - - - - - - - Triploidy - - - - - - - - Trisomy 10p - - - - - - - - Mosaic trisomy 12 - - - - - - - - Trisomy 12p - - - - - - - - Mosaic trisomy 15 - - - - - - - - Mosaic trisomy 17 - - - - - - - - Trisomy 17p - - - - - - - - Trisomy 18p - - - - - - - - Mosaic trisomy 2 - - - - - - - - Trisomy 20p - - - - - - - - Mosaic trisomy 3 - - - - - - - - Mosaic trisomy 7 - - - - - - - - Mosaic trisomy 8 - - - - - - - - Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) - - - - - - - - Trisomy 8q - - - - - - - - Autosomal recessive spastic paraplegia type 20 - - - - - - - - Acute promyelocytic leukemia - - - - - - - - Transient tyrosinemia of the newborn - - - - - - - - Galactose epimerase deficiency - - - - - - - - Uhl anomaly - - - - - - - - Ulbright-Hodes syndrome - - - - - - - - Ulerythema ophryogenesis - - - - - - - - Ulna hypoplasia-intellectual disability syndrome - - - - - - - - Duodenal atresia - - - - - - - - Medium chain acyl-CoA dehydrogenase deficiency - - - - - - - - Ulnar hypoplasia-split foot syndrome - - - - - - - - Umbilical cord ulceration-intestinal atresia syndrome - - - - - - - - Uncombable hair syndrome - - - - - - - - 17q11 microdeletion syndrome - - - - - - - - Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 - - - - - - - - Upington disease - - - - - - - - Urachal cyst - - - - - - - - Urban-Rogers-Meyer syndrome - - - - - - - - Hereditary mucoepithelial dysplasia - - - - - - - - Hereditary orotic aciduria - - - - - - - - Müllerian derivatives-lymphangiectasia-polydactyly syndrome - - - - - - - - Usher syndrome type 1 - - - - - - - - - Usher syndrome, type i - - - - - - - - - Usher syndrome, type ic - - - - - - - - - Usher syndrome, type id - - - - - - - - - Usher syndrome, type ie - - - - - - - - Usher syndrome type 2 - - - - - - - - Usher syndrome type 3 - - - - - - - - VACTERL/VATER association - - - - - - - - Mayer-Rokitansky-Küster-Hauser syndrome - - - - - - - - Fetal valproate spectrum disorder - - - - - - - - Van den Bosch syndrome - - - - - - - - Cerebrofacioarticular syndrome - - - - - - - - Adenine phosphoribosyltransferase deficiency - - - - - - - - Congenital bilateral absence of vas deferens - - - - - - - - Vein of Galen aneurysmal malformation - - - - - - - - Velo-facial-skeletal syndrome - - - - - - - - Adenosine monophosphate deaminase deficiency - - - - - - - - Congenital velopharyngeal incompetence - - - - - - - - Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome - - - - - - - - Congenitally uncorrected transposition of the great arteries - - - - - - - - Brachyolmia-amelogenesis imperfecta syndrome - - - - - - - - Microspherophakia-metaphyseal dysplasia syndrome - - - - - - - - Verloove Vanhorick-Brubakk syndrome - - - - - - - - Inflammatory linear verrucous epidermal nevus - - - - - - - - Acanthokeratolytic verrucous nevus - - - - - - - - Congenital vertical talus - - - - - - - - Microcephaly-brachydactyly-kyphoscoliosis syndrome - - - - - - - - Viral hemorrhagic fever - - - - - - - - Malignant Sertoli-Leydig cell tumor of the ovary - - - - - - - - Oculogastrointestinal muscular dystrophy - - - - - - - - Adenylosuccinate lyase deficiency - - - - - - - - Vitamin B12-responsive methylmalonic acidemia type cblA - - - - - - - - Autosomal dominant vitreoretinochoroidopathy - - - - - - - - Very long chain acyl-CoA dehydrogenase deficiency - - - - - - - - Laryngeal abductor paralysis - - - - - - - - Mayer-Rokitansky-Küster-Hauser syndrome type 2 - - - - - - - - Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome - - - - - - - - Waardenburg syndrome type 1 - - - - - - - - Waardenburg syndrome type 2 - - - - - - - - - Waardenburg syndrome, type 2b - - - - - - - - Waardenburg syndrome type 3 - - - - - - - - Waardenburg-Shah syndrome - - - - - - - - Waardenburg syndrome - - - - - - - - WAGR syndrome - - - - - - - - Aniridia-intellectual disability syndrome - - - - - - - - Cleidorhizomelic syndrome - - - - - - - - Micro syndrome - - - - - - - - Deaf blind hypopigmentation syndrome, Yemenite type - - - - - - - - Craniosynostosis, Boston type - - - - - - - - Acromelic frontonasal dysplasia - - - - - - - - Weaver-Williams syndrome - - - - - - - - X-linked adrenal hypoplasia congenita - - - - - - - - Distal myopathy, Welander type - - - - - - - - Cataract-aberrant oral frenula-growth delay syndrome - - - - - - - - Spastic paraparesis-deafness syndrome - - - - - - - - White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome - - - - - - - - Osteopathia striata-pigmentary dermopathy-white forelock syndrome - - - - - - - - Wiedemann-Steiner syndrome - - - - - - - - Wildervanck syndrome - - - - - - - - Acquired von Willebrand syndrome - - - - - - - - Prader-Willi syndrome - - - - - - - - Denys-Drash syndrome - - - - - - - - Wilson-Turner syndrome - - - - - - - - Adrenocortical carcinoma - - - - - - - - Curry-Jones syndrome - - - - - - - - Hypodontia-dysplasia of nails syndrome - - - - - - - - Wolcott-Rallison syndrome - - - - - - - - Neonatal adrenoleukodystrophy - - - - - - - - Woodhouse-Sakati syndrome - - - - - - - - - Intrauterine growth retardation with increased mitomycin c sensitivity - - - - - - - - Carvajal syndrome - - - - - - - - Woolly hair - - - - - - - - Worster-Drought syndrome - - - - - - - - Severe X-linked intellectual disability, Gustavson type - - - - - - - - - Intellectual developmental disorder, x-linked 63 - - - - - - - - - Intellectual developmental disorder, x-linked 29 - - - - - - - - X-linked intellectual disability, Snyder type - - - - - - - - Allan-Herndon-Dudley syndrome - - - - - - - - T-B+ severe combined immunodeficiency due to gamma chain deficiency - - - - - - - - Adrenomyodystrophy - - - - - - - - Xanthinuria type II - - - - - - - - Xanthinuria type I - - - - - - - - Cerebrotendinous xanthomatosis - - - - - - - - Dehydrated hereditary stomatocytosis - - - - - - - - - Xeroderma pigmentosum, complementation group a - - - - - - - - - - Xeroderma pigmentosum, complementation group b - - - - - - - - - Xeroderma pigmentosum, complementation group c - - - - - - - - - Xeroderma pigmentosum, complementation group e - - - - - - - - - - Xeroderma pigmentosum, complementation group f - - - - - - - - - - - Xeroderma pigmentosum, complementation group g - - - - - - - - Xeroderma pigmentosum variant - - - - - - - - Proximal spinal muscular atrophy type 4 - - - - - - - - Aase-Smith syndrome - - - - - - - - Dentatorubral pallidoluysian atrophy - - - - - - - - - Cardiomyopathy, dilated, 1e - - - - - - - - Photosensitive epilepsy - - - - - - - - Gliosarcoma - - - - - - - - Alveolar soft tissue sarcoma - - - - - - - - PFAPA syndrome - - - - - - - - Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - - - - - - - - 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency - - - - - - - - D-2-hydroxyglutaric aciduria - - - - - - - - 3-hydroxyisobutyric aciduria - - - - - - - - 3-methylglutaconic aciduria type 3 - - - - - - - - - 3-methylcrotonyl-coa carboxylase 1 deficiency - - - - - - - - 3C syndrome - - - - - - - - 3M syndrome - - - - - - - - Hawkinsinuria - - - - - - - - 46,XX gonadal dysgenesis - - - - - - - - Trisomy X - - - - - - - - 47,XYY syndrome - - - - - - - - 48,XXXY syndrome - - - - - - - - 48,XXYY syndrome - - - - - - - - Pentasomy X - - - - - - - - 49,XXXXY syndrome - - - - - - - - 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency - - - - - - - - 5-oxoprolinase deficiency - - - - - - - - 6-pyruvoyl-tetrahydropterin synthase deficiency - - - - - - - - Smith-Lemli-Opitz syndrome - - - - - - - - Glycogen storage disease due to muscle phosphofructokinase deficiency - - - - - - - - Temtamy syndrome - - - - - - - - Refsum disease - - - - - - - - Partial androgen insensitivity syndrome - - - - - - - - Reactive arthritis - - - - - - - - Retinitis pigmentosa - - - - - - - - Retinopathy of prematurity - - - - - - - - Rett syndrome - - - - - - - - - Fibrosclerosis, multifocal - - - - - - - - Rheumatic fever - - - - - - - - Axenfeld-Rieger syndrome - - - - - - - - Idiopathic achalasia - - - - - - - - Glycogen storage disease due to acid maltase deficiency - - - - - - - - Acrocallosal syndrome - - - - - - - - Acrodermatitis enteropathica - - - - - - - - Acrodysostosis - - - - - - - - Acromegaly - - - - - - - - Congenital isolated ACTH deficiency - - - - - - - - Actinomycosis - - - - - - - - Acute intermittent porphyria - - - - - - - - Adams-Oliver syndrome - - - - - - - - Addison disease - - - - - - - - Ameloblastoma - - - - - - - - Severe combined immunodeficiency due to adenosine deaminase deficiency - - - - - - - - Holmes-Adie syndrome - - - - - - - - Aicardi-Goutières syndrome - - - - - - - - Adiposis dolorosa - - - - - - - - X-linked adrenoleukodystrophy - - - - - - - - Familial afibrinogenemia - - - - - - - - Aicardi syndrome - - - - - - - - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - - - - - - - Alexander disease - - - - - - - - Alkaptonuria - - - - - - - - Alpers-Huttenlocher syndrome - - - - - - - - Alpha-1-antitrypsin deficiency - - - - - - - - Alport syndrome - - - - - - - - Amyotrophic lateral sclerosis - - - - - - - - Alström syndrome - - - - - - - - Amelogenesis imperfecta - - - - - - - - AL amyloidosis - - - - - - - - Otopalatodigital syndrome type 2 - - - - - - - - Androgen insensitivity syndrome - - - - - - - - Isolated anencephaly/exencephaly - - - - - - - - Angelman syndrome - - - - - - - - Isolated aniridia - - - - - - - - Anodontia - - - - - - - - Testicular agenesis - - - - - - - - Antiphospholipid syndrome - - - - - - - - Antley-Bixler syndrome - - - - - - - - Aorta coarctation - - - - - - - - Short stature-webbed neck-heart disease syndrome - - - - - - - - Apert syndrome - - - - - - - - Aplasia cutis congenita - - - - - - - - Idiopathic aplastic anemia - - - - - - - - Arachnoiditis - - - - - - - - Hirschsprung disease-nail hypoplasia-dysmorphism syndrome - - - - - - - - Argininemia - - - - - - - - Argininosuccinic aciduria - - - - - - - - Arrhythmogenic right ventricular cardiomyopathy - - - - - - - - Asbestos intoxication - - - - - - - - Asherman syndrome - - - - - - - - Aspartylglucosaminuria - - - - - - - - Aspergillosis - - - - - - - - Anaplastic astrocytoma - - - - - - - - Ataxia-telangiectasia - - - - - - - - Alpha-thalassemia-X-linked intellectual disability syndrome - - - - - - - - Atrial septal defect, ostium secundum type - - - - - - - - Localized lipodystrophy - - - - - - - - Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome - - - - - - - - Autoimmune hemolytic anemia - - - - - - - - Autoimmune hepatitis - - - - - - - - Babesiosis - - - - - - - - Alar cartilages hypoplasia-coloboma-telecanthus syndrome - - - - - - - - Baló concentric sclerosis - - - - - - - - Bannayan-Riley-Ruvalcaba syndrome - - - - - - - - Albinism-deafness syndrome - - - - - - - - Barth syndrome - - - - - - - - Bartter syndrome - - - - - - - - CLN3 disease - - - - - - - - Congenital myopathy - - - - - - - - Congenital contractural arachnodactyly - - - - - - - - Spinocerebellar ataxia type 34 - - - - - - - - Becker muscular dystrophy - - - - - - - - Diffuse astrocytoma - - - - - - - - Mucous membrane pemphigoid - - - - - - - - Ocular albinism with late-onset sensorineural deafness - - - - - - - - Birdshot chorioretinopathy - - - - - - - - Blue diaper syndrome - - - - - - - - Oculocutaneous albinism type 1B - - - - - - - - Blue rubber bleb nevus - - - - - - - - Bowen-Conradi syndrome - - - - - - - - Bronchiolitis obliterans with obstructive pulmonary disease - - - - - - - - Bronchopulmonary dysplasia - - - - - - - - Brucellosis - - - - - - - - Budd-Chiari syndrome - - - - - - - - Buerger disease - - - - - - - - Bullous pemphigoid - - - - - - - - Burkitt lymphoma - - - - - - - - Burning mouth syndrome - - - - - - - - Scleredema - - - - - - - - C syndrome - - - - - - - - Hereditary angioedema - - - - - - - - Calciphylaxis - - - - - - - - Canavan disease - - - - - - - - Fetal alcohol syndrome - - - - - - - - - Osteopetrosis, autosomal recessive 4 - - - - - - - - Carcinoid syndrome - - - - - - - - Acromesomelic dysplasia - - - - - - - - Iridocorneal endothelial syndrome - - - - - - - - Glycogen storage disease due to aldolase A deficiency - - - - - - - - Carnosinase deficiency - - - - - - - - Caroli disease - - - - - - - - Carpenter syndrome - - - - - - - - Unicentric Castleman disease - - - - - - - - Caudal regression syndrome - - - - - - - - Macrocystic lymphatic malformation - - - - - - - - Bilateral perisylvian polymicrogyria - - - - - - - - Central core disease - - - - - - - - Central diabetes insipidus - - - - - - - - Allergic bronchopulmonary aspergillosis - - - - - - - - Cerebrocostomandibular syndrome - - - - - - - - COFS syndrome - - - - - - - - Chandler syndrome - - - - - - - - Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy - - - - - - - - Chédiak-Higashi syndrome - - - - - - - - Cherubism - - - - - - - - Chikungunya - - - - - - - - CHILD syndrome - - - - - - - - Autosomal dominant palmoplantar keratoderma and congenital alopecia - - - - - - - - Childhood disintegrative disorder - - - - - - - - Cholera - - - - - - - - - Chondrocalcinosis 1 - - - - - - - - Rhizomelic chondrodysplasia punctata type 1 - - - - - - - - Alopecia-contractures-dwarfism-intellectual disability syndrome - - - - - - - - Chondrosarcoma - - - - - - - - Moynahan syndrome - - - - - - - - Choroideremia - - - - - - - - Chromophobe renal cell carcinoma - - - - - - - - Ring chromosome 13 syndrome - - - - - - - - Alopecia-epilepsy-pyorrhea-intellectual disability syndrome - - - - - - - - Ring chromosome 14 syndrome - - - - - - - - Ring chromosome 18 syndrome - - - - - - - - 1p36 deletion syndrome - - - - - - - - Ring chromosome 21 syndrome - - - - - - - - Mosaic trisomy 22 - - - - - - - - Trisomy 4p - - - - - - - - Trisomy 5p - - - - - - - - Ring chromosome 6 syndrome - - - - - - - - Femoral-facial syndrome - - - - - - - - Chronic granulomatous disease - - - - - - - - Chronic inflammatory demyelinating polyneuropathy - - - - - - - - B-cell chronic lymphocytic leukemia - - - - - - - - Chronic myeloid leukemia - - - - - - - - - Neutropenia, lethal congenital, with eosinophilia - - - - - - - - Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis - - - - - - - - Eosinophilic granulomatosis with polyangiitis - - - - - - - - Citrullinemia type I - - - - - - - - Cleidocranial dysplasia - - - - - - - - Alopecia-intellectual disability syndrome - - - - - - - - Coats disease - - - - - - - - Cockayne syndrome - - - - - - - - Coffin-Lowry syndrome - - - - - - - - Coffin-Siris syndrome - - - - - - - - Cogan-Reese syndrome - - - - - - - - Cohen syndrome - - - - - - - - Alopecia totalis - - - - - - - - Cold agglutinin disease - - - - - - - - Alopecia universalis - - - - - - - - Common variable immunodeficiency - - - - - - - - - Cone-rod dystrophy 2 - - - - - - - - Hereditary thrombophilia due to congenital antithrombin deficiency - - - - - - - - Congenital fiber-type disproportion myopathy - - - - - - - - Congenital heart block - - - - - - - - - Polycystic kidney disease 4 with or without polycystic liver disease - - - - - - - - Hepatoerythropoietic porphyria - - - - - - - - Oxoglutaric aciduria - - - - - - - - - Myotonia congenita, autosomal dominant - - - - - - - - X-linked dominant chondrodysplasia punctata - - - - - - - - Triatrial heart - - - - - - - - Congenital hereditary endothelial dystrophy type II - - - - - - - - Filippi syndrome - - - - - - - - Cowden syndrome - - - - - - - - Cramp-fasciculation syndrome - - - - - - - - Crouzon syndrome - - - - - - - - Craniosynostosis - - - - - - - - Alpha-thalassemia - - - - - - - - Monosomy 5p - - - - - - - - Simple cryoglobulinemia - - - - - - - - Cryptococcosis - - - - - - - - Cushing syndrome - - - - - - - - Rare cutaneous lupus erythematosus - - - - - - - - Primary cutaneous T-cell lymphoma - - - - - - - - Cutis laxa - - - - - - - - Cutis marmorata telangiectatica congenita - - - - - - - - Cyclic neutropenia - - - - - - - - Cystic fibrosis - - - - - - - - Cystinosis - - - - - - - - Cystinuria - - - - - - - - Autosomal dominant Alport syndrome - - - - - - - - Isolated Dandy-Walker malformation - - - - - - - - Darier disease - - - - - - - - Malignant atrophic papulosis - - - - - - - - Autosomal recessive Alport syndrome - - - - - - - - Dengue fever - - - - - - - - Dentinogenesis imperfecta - - - - - - - - Dermatomyositis - - - - - - - - Desmoplastic small round cell tumor - - - - - - - - Neuromyelitis optica spectrum disorder - - - - - - - - Blackfan-Diamond anemia - - - - - - - - Diastrophic dysplasia - - - - - - - - Diencephalic syndrome - - - - - - - - Dracunculiasis - - - - - - - - Duane retraction syndrome - - - - - - - - Dubowitz syndrome - - - - - - - - Duchenne muscular dystrophy - - - - - - - - Dyggve-Melchior-Clausen disease - - - - - - - - - Dyskeratosis congenita, autosomal dominant 1 - - - - - - - - - Dyskeratosis congenita, autosomal recessive 1 - - - - - - - - Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form - - - - - - - - Eales disease - - - - - - - - Ebstein malformation of the tricuspid valve - - - - - - - - Ectodermal dysplasia syndrome - - - - - - - - Isolated split hand-split foot malformation - - - - - - - - Trisomy 18 - - - - - - - - Ehlers-Danlos syndrome - - - - - - - - Eisenmenger syndrome - - - - - - - - Emery-Dreifuss muscular dystrophy - - - - - - - - Encephalitis lethargica - - - - - - - - Isolated encephalocele - - - - - - - - Endocardial fibroelastosis - - - - - - - - Infective endocarditis - - - - - - - - Endometrial stromal sarcoma - - - - - - - - Leber congenital amaurosis - - - - - - - - - Leber congenital amaurosis 1 - - - - - - - - Eosinophilic fasciitis - - - - - - - - Ependymoma - - - - - - - - Epidermodysplasia verruciformis - - - - - - - - - Leber congenital amaurosis 2 - - - - - - - - Epidermolysis bullosa acquisita - - - - - - - - Erdheim-Chester disease - - - - - - - - Amaurosis-hypertrichosis syndrome - - - - - - - - Primary erythromelalgia - - - - - - - - Esophageal atresia - - - - - - - - Carcinoma of esophagus - - - - - - - - Cryoglobulinemic vasculitis - - - - - - - - Evans syndrome - - - - - - - - Skeletal Ewing sarcoma - - - - - - - - Bladder exstrophy - - - - - - - - Fountain syndrome - - - - - - - - Congenital amegakaryocytic thrombocytopenia - - - - - - - - Fabry disease - - - - - - - - Congenital factor X deficiency - - - - - - - - Acquired hemophilia A - - - - - - - - Bilateral striopallidodentate calcinosis - - - - - - - - Familial adenomatous polyposis - - - - - - - - Familial chylomicronemia syndrome - - - - - - - - Familial Mediterranean fever - - - - - - - - Fanconi anemia - - - - - - - - Farber disease - - - - - - - - Farmer's lung disease - - - - - - - - Fatal familial insomnia - - - - - - - - Fetal hydantoin syndrome - - - - - - - - Fibrous dysplasia of bone - - - - - - - - Fibrodysplasia ossificans progressiva - - - - - - - - Severe primary trimethylaminuria - - - - - - - - Hypoplastic amelogenesis imperfecta - - - - - - - - Fish-eye disease - - - - - - - - Floating-Harbor syndrome - - - - - - - - Focal dermal hypoplasia - - - - - - - - Enamel-renal syndrome - - - - - - - - Fragile X syndrome - - - - - - - - Fraser syndrome - - - - - - - - Freeman-Sheldon syndrome - - - - - - - - Friedreich ataxia - - - - - - - - Amelo-onycho-hypohidrotic syndrome - - - - - - - - Essential fructosuria - - - - - - - - Fucosidosis - - - - - - - - Congenital muscular dystrophy, Fukuyama type - - - - - - - - Fumaric aciduria - - - - - - - - GM1 gangliosidosis type 1 - - - - - - - - Autoerythrocyte sensitization syndrome - - - - - - - - Gardner syndrome - - - - - - - - MALT lymphoma - - - - - - - - Pemphigoid gestationis - - - - - - - - Gestational trophoblastic neoplasm - - - - - - - - Galloway-Mowat syndrome - - - - - - - - Giant axonal neuropathy - - - - - - - - Pituitary gigantism - - - - - - - - - Fibromatosis, gingival, 1 - - - - - - - - Glial tumor - - - - - - - - Gliomatosis cerebri - - - - - - - - Glossopharyngeal neuralgia - - - - - - - - Class I glucose-6-phosphate dehydrogenase deficiency - - - - - - - - Glucose-galactose malabsorption - - - - - - - - Glutaryl-CoA dehydrogenase deficiency - - - - - - - - Multiple acyl-CoA dehydrogenase deficiency - - - - - - - - Glycogen storage disease due to muscle glycogen phosphorylase deficiency - - - - - - - - Glycogen storage disease due to liver glycogen phosphorylase deficiency - - - - - - - - Beta-mercaptolactate cysteine disulfiduria - - - - - - - - Gorham-Stout disease - - - - - - - - Acrogeria - - - - - - - - Acute graft versus host disease - - - - - - - - Greig cephalopolysyndactyly syndrome - - - - - - - - Guillain-Barré syndrome - - - - - - - - Gyrate atrophy of choroid and retina - - - - - - - - Congenital factor XII deficiency - - - - - - - - Familial benign chronic pemphigus - - - - - - - - Classic hairy cell leukemia - - - - - - - - Pantothenate kinase-associated neurodegeneration - - - - - - - - Harlequin ichthyosis - - - - - - - - Hartnup disease - - - - - - - - Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome - - - - - - - - Sickle cell-hemoglobin C disease syndrome - - - - - - - - Shiga toxin-associated hemolytic uremic syndrome - - - - - - - - Familial hemophagocytic lymphohistiocytosis - - - - - - - - Hemophilia A - - - - - - - - Essential thrombocythemia - - - - - - - - Gorlin-Chaudhry-Moss syndrome - - - - - - - - Adult hepatocellular carcinoma - - - - - - - - Hereditary amyloidosis - - - - - - - - CLN9 disease - - - - - - - - Hereditary coproporphyria - - - - - - - - Hereditary elliptocytosis - - - - - - - - Hereditary fructose intolerance - - - - - - - - Hereditary hemorrhagic telangiectasia - - - - - - - - Hereditary chronic pancreatitis - - - - - - - - Hereditary sensory and autonomic neuropathy type 1 - - - - - - - - Hereditary spastic paraplegia - - - - - - - - Hereditary spherocytosis - - - - - - - - Anaplastic thyroid carcinoma - - - - - - - - Hermansky-Pudlak syndrome - - - - - - - - Herpes simplex virus encephalitis - - - - - - - - Chronic hiccup - - - - - - - - Hirschsprung disease - - - - - - - - Histidinemia - - - - - - - - Holoprosencephaly - - - - - - - - Holt-Oram syndrome - - - - - - - - Classic homocystinuria - - - - - - - - Congenital Horner syndrome - - - - - - - - Mucopolysaccharidosis type 2 - - - - - - - - Huntington disease - - - - - - - - X-linked sideroblastic anemia and spinocerebellar ataxia - - - - - - - - Hydranencephaly - - - - - - - - Congenital hydrocephalus - - - - - - - - Hydrolethalus - - - - - - - - Aneurysm of sinus of Valsalva - - - - - - - - Dysbetalipoproteinemia - - - - - - - - Familial apolipoprotein A5 deficiency - - - - - - - - Angel-shaped phalango-epiphyseal dysplasia - - - - - - - - Hyperprolinemia type 2 - - - - - - - - Hypochondroplasia - - - - - - - - Hypocomplementemic urticarial vasculitis - - - - - - - - Hypokalemic periodic paralysis - - - - - - - - Hypophosphatasia - - - - - - - - Hypophosphatemic rickets - - - - - - - - - Panhypopituitarism, x-linked - - - - - - - - Hypoplastic left heart syndrome - - - - - - - - Mucolipidosis type II - - - - - - - - Idiopathic pulmonary artery dilatation - - - - - - - - Hereditary neurocutaneous malformation - - - - - - - - Idiopathic juvenile osteoporosis - - - - - - - - Idiopathic pulmonary hemosiderosis - - - - - - - - Incontinentia pigmenti - - - - - - - - Infantile apnea - - - - - - - - Fuchs heterochromic iridocyclitis - - - - - - - - Isaacs syndrome - - - - - - - - Right sided atrial isomerism - - - - - - - - Jackson-Weiss syndrome - - - - - - - - Japanese encephalitis - - - - - - - - Autosomal recessive spondylocostal dysostosis - - - - - - - - Hypoglossia-hypodactyly syndrome - - - - - - - - Autosomal dominant hyper-IgE syndrome - - - - - - - - Spinocerebellar ataxia type 3 - - - - - - - - Joubert syndrome - - - - - - - - Juvenile dermatomyositis - - - - - - - - Infantile systemic hyalinosis - - - - - - - - Juvenile myoclonic epilepsy - - - - - - - - Kabuki syndrome - - - - - - - - Kaposi sarcoma - - - - - - - - Kawasaki disease - - - - - - - - Kearns-Sayre syndrome - - - - - - - - Kennedy disease - - - - - - - - Muir-Torre syndrome - - - - - - - - Keratosis follicularis spinulosa decalvans - - - - - - - - Angiostrongyliasis - - - - - - - - Bilirubin encephalopathy - - - - - - - - Kikuchi-Fujimoto disease - - - - - - - - Kimura disease - - - - - - - - Klüver-Bucy syndrome - - - - - - - - Kniest dysplasia - - - - - - - - Osteochondrosis of the tarsal bone - - - - - - - - Krabbe disease - - - - - - - - CLN4A disease - - - - - - - - Lacrimoauriculodentodigital syndrome - - - - - - - - Aniridia-absent patella syndrome - - - - - - - - Lambert-Eaton myasthenic syndrome - - - - - - - - Landau-Kleffner syndrome - - - - - - - - Langerhans cell histiocytosis - - - - - - - - Laron syndrome - - - - - - - - Larsen syndrome - - - - - - - - Congenital laryngomalacia - - - - - - - - Bardet-Biedl syndrome - - - - - - - - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - - - - - - - - Leber hereditary optic neuropathy - - - - - - - - Ledderhose disease - - - - - - - - Legg-Calvé-Perthes disease - - - - - - - - Legionnaires disease - - - - - - - - Leigh syndrome - - - - - - - - Erythroderma desquamativum - - - - - - - - Leiomyosarcoma - - - - - - - - Leishmaniasis - - - - - - - - Lemierre syndrome - - - - - - - - Leprechaunism - - - - - - - - Leprosy - - - - - - - - Aniridia-ptosis-intellectual disability-familial obesity syndrome - - - - - - - - Leukocyte adhesion deficiency type I - - - - - - - - Leukodystrophy - - - - - - - - Hantavirus pulmonary syndrome - - - - - - - - Aniridia-renal agenesis-psychomotor retardation syndrome - - - - - - - - Lhermitte-Duclos disease - - - - - - - - Li-Fraumeni syndrome - - - - - - - - Light chain deposition disease - - - - - - - - Limb-girdle muscular dystrophy - - - - - - - - Liposarcoma - - - - - - - - Lissencephaly type 1 due to doublecortin gene mutation - - - - - - - - Listeriosis - - - - - - - - Locked-in syndrome - - - - - - - - Anisakiasis - - - - - - - - Jessner lymphocytic infiltration of the skin - - - - - - - - Lymphomatoid granulomatosis - - - - - - - - Lymphomatoid papulosis - - - - - - - - Megalencephaly-capillary malformation-polymicrogyria syndrome - - - - - - - - Macrodactyly of toes - - - - - - - - Macular corneal dystrophy - - - - - - - - Sporadic Creutzfeldt-Jakob disease - - - - - - - - Multiple symmetric lipomatosis - - - - - - - - Maffucci syndrome - - - - - - - - Mal de débarquement - - - - - - - - Ankyloblepharon filiforme adnatum-cleft palate syndrome - - - - - - - - Malakoplakia - - - - - - - - Malaria - - - - - - - - Undifferentiated pleomorphic sarcoma - - - - - - - - Malignant hyperthermia of anesthesia - - - - - - - - Alpha-mannosidosis - - - - - - - - Mantle cell lymphoma - - - - - - - - Ankyloblepharon filiforme adnatum-imperforate anus syndrome - - - - - - - - Marchiafava-Bignami disease - - - - - - - - Marcus-Gunn syndrome - - - - - - - - Marden-Walker syndrome - - - - - - - - Marfan syndrome type 1 - - - - - - - - Marshall syndrome - - - - - - - - Marshall-Smith syndrome - - - - - - - - MASA syndrome - - - - - - - - Mastocytosis - - - - - - - - Maxillonasal dysplasia - - - - - - - - McCune-Albright syndrome - - - - - - - - Cartilage-hair hypoplasia - - - - - - - - Acromicric dysplasia - - - - - - - - Kasabach-Merritt syndrome - - - - - - - - MUC1-related autosomal dominant tubulointerstitial kidney disease - - - - - - - - Medullary thyroid carcinoma - - - - - - - - Medulloblastoma - - - - - - - - Imerslund-Gräsbeck syndrome - - - - - - - - Blepharospasm-oromandibular dystonia syndrome - - - - - - - - MELAS - - - - - - - - Dental ankylosis - - - - - - - - Melkersson-Rosenthal syndrome - - - - - - - - Melnick-Needles syndrome - - - - - - - - Meningioma - - - - - - - - Mercury poisoning - - - - - - - - Pleural mesothelioma - - - - - - - - Metaphyseal chondrodysplasia, Schmid type - - - - - - - - Multiple osteochondromas - - - - - - - - Microvillus inclusion disease - - - - - - - - Extranodal nasal NK/T cell lymphoma - - - - - - - - IgG4-related dacryoadenitis and sialadenitis - - - - - - - - Annular pancreas - - - - - - - - Mixed connective tissue disease - - - - - - - - Localized scleroderma - - - - - - - - Moyamoya disease - - - - - - - - Mucopolysaccharidosis - - - - - - - - Sanfilippo syndrome type A - - - - - - - - Sanfilippo syndrome type B - - - - - - - - Sanfilippo syndrome type C - - - - - - - - Sanfilippo syndrome type D - - - - - - - - Multiple system atrophy - - - - - - - - Mucopolysaccharidosis type 6 - - - - - - - - Mucopolysaccharidosis type 7 - - - - - - - - Muenke syndrome - - - - - - - - Anonychia-onychodystrophy syndrome - - - - - - - - Müllerian aplasia - - - - - - - - Multicentric reticulohistiocytosis - - - - - - - - Multiple myeloma - - - - - - - - Autosomal recessive multiple pterygium syndrome - - - - - - - - Myasthenia gravis - - - - - - - - Matthew-Wood syndrome - - - - - - - - Myelodysplastic syndrome - - - - - - - - Myoclonus-dystonia syndrome - - - - - - - - Progressive myoclonic epilepsy - - - - - - - - MERRF - - - - - - - - Inflammatory myofibroblastic tumor - - - - - - - - Hyaline body myopathy - - - - - - - - Myxoid/round cell liposarcoma - - - - - - - - Hyperammonemia due to N-acetylglutamate synthase deficiency - - - - - - - - Nail-patella syndrome - - - - - - - - Nance-Horan syndrome - - - - - - - - Narcolepsy type 1 - - - - - - - - Nasopharyngeal carcinoma - - - - - - - - Gorlin syndrome - - - - - - - - Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome - - - - - - - - Nelson syndrome - - - - - - - - Childhood-onset nemaline myopathy - - - - - - - - Neonatal hemochromatosis - - - - - - - - Nephrogenic diabetes insipidus - - - - - - - - Benign peripheral nerve sheath tumor - - - - - - - - Netherton syndrome - - - - - - - - Sialidosis type 2 - - - - - - - - Neuroblastoma - - - - - - - - Neurocutaneous melanocytosis - - - - - - - - Anophthalmia plus syndrome - - - - - - - - - Alzheimer disease 15 - - - - - - - - Neurofibroma - - - - - - - - Neurofibromatosis type 2 - - - - - - - - Neuroleptic malignant syndrome - - - - - - - - Thymic aplasia - - - - - - - - Infantile neurovisceral acid sphingomyelinase deficiency - - - - - - - - Niemann-Pick disease type C - - - - - - - - Nocardiosis - - - - - - - - Glycine encephalopathy - - - - - - - - Microphthalmia with limb anomalies - - - - - - - - Milroy disease - - - - - - - - - Noonan syndrome 1 - - - - - - - - Norrie disease - - - - - - - - Lesch-Nyhan syndrome - - - - - - - - Oculodentodigital dysplasia - - - - - - - - Oculopharyngeal muscular dystrophy - - - - - - - - Ollier disease - - - - - - - - Onchocerciasis - - - - - - - - Oral submucous fibrosis - - - - - - - - Carbamoyl-phosphate synthetase 1 deficiency - - - - - - - - Osteosarcoma - - - - - - - - Ovarian cancer - - - - - - - - Malignant mixed Müllerian tumor of the ovary - - - - - - - - Pachydermoperiostosis - - - - - - - - X-linked hyper-IgM syndrome - - - - - - - - Anti-HLA hyperimmunization - - - - - - - - Paget disease of the nipple - - - - - - - - Pallister-Hall syndrome - - - - - - - - Congenital alpha2-antiplasmin deficiency - - - - - - - - PANDAS - - - - - - - - Localized lichen myxedematosus - - - - - - - - Paracoccidioidomycosis - - - - - - - - - Paragangliomas 1 - - - - - - - - Paramyotonia congenita of Von Eulenburg - - - - - - - - Paraneoplastic neurologic syndrome - - - - - - - - Parathyroid carcinoma - - - - - - - - Paroxysmal cold hemoglobinuria - - - - - - - - Paroxysmal nocturnal hemoglobinuria - - - - - - - - Progressive hemifacial atrophy - - - - - - - - Trisomy 13 - - - - - - - - - Patent ductus arteriosus 1 - - - - - - - - Pearson syndrome - - - - - - - - Peeling skin syndrome - - - - - - - - Antisynthetase syndrome - - - - - - - - Pemphigus foliaceus - - - - - - - - Pemphigus vulgaris - - - - - - - - Pentalogy of Cantrell - - - - - - - - Polyarteritis nodosa - - - - - - - - - Periventricular nodular heterotopia 1 - - - - - - - - Peters anomaly - - - - - - - - Peutz-Jeghers syndrome - - - - - - - - Congenital aortopulmonary window - - - - - - - - Pfeiffer syndrome - - - - - - - - Liddle syndrome - - - - - - - - Phenylketonuria - - - - - - - - Sporadic pheochromocytoma/secreting paraganglioma - - - - - - - - Roberts syndrome - - - - - - - - Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - - - - - - - - Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome - - - - - - - - Behavioral variant of frontotemporal dementia - - - - - - - - Tenosynovial giant cell tumor - - - - - - - - Isolated growth hormone deficiency type IA - - - - - - - - Aortic arch interruption - - - - - - - - Pityriasis rubra pilaris - - - - - - - - Placental site trophoblastic tumor - - - - - - - - Aortic arch defects - - - - - - - - POEMS syndrome - - - - - - - - Poland syndrome - - - - - - - - Poliomyelitis - - - - - - - - Cutaneous polyarteritis nodosa - - - - - - - - Relapsing polychondritis - - - - - - - - Polycythemia vera - - - - - - - - Polymyositis - - - - - - - - Supravalvular aortic stenosis - - - - - - - - Porencephaly - - - - - - - - Porphyria cutanea tarda - - - - - - - - Posterior urethral valve - - - - - - - - Rare precocious puberty - - - - - - - - Primary biliary cholangitis - - - - - - - - Hutchinson-Gilford progeria syndrome - - - - - - - - Progressive multifocal leukoencephalopathy - - - - - - - - Progressive supranuclear palsy - - - - - - - - Prolidase deficiency - - - - - - - - Proteus syndrome - - - - - - - - Prune belly syndrome - - - - - - - - Aphalangy-syndactyly-microcephaly syndrome - - - - - - - - Butyrylcholinesterase deficiency - - - - - - - - Pseudohypoparathyroidism type 1A - - - - - - - - Pseudomyxoma peritonei - - - - - - - - Autoimmune pulmonary alveolar proteinosis - - - - - - - - Pulmonary arterial hypertension - - - - - - - - Punctate inner choroidopathy - - - - - - - - Pyoderma gangrenosum - - - - - - - - Pyruvate carboxylase deficiency - - - - - - - - Pyruvate dehydrogenase deficiency - - - - - - - - Hemolytic anemia due to red cell pyruvate kinase deficiency - - - - - - - - Q fever - - - - - - - - Rabies - - - - - - - - Ramon syndrome - - - - - - - - Ramsay Hunt syndrome - - - - - - - - Aplasia cutis congenita-intestinal lymphangiectasia syndrome - - - - - - - - Familial renal glucosuria - - - - - - - - Primary renal tubular acidosis - - - - - - - - Aplasia cutis-myopia syndrome - - - - - - - - Retinoblastoma - - - - - - - - Reye syndrome - - - - - - - - Rhabdoid tumor - - - - - - - - Familial dysautonomia - - - - - - - - Rocky Mountain spotted fever - - - - - - - - Rosaï-Dorfman disease - - - - - - - - Familial apolipoprotein C-II deficiency - - - - - - - - Rubinstein-Taybi syndrome - - - - - - - - Saethre-Chotzen syndrome - - - - - - - - Hypohidrotic ectodermal dysplasia - - - - - - - - Sandhoff disease, infantile form - - - - - - - - SAPHO syndrome - - - - - - - - Sarcoidosis - - - - - - - - X-linked scapuloperoneal muscular dystrophy - - - - - - - - Familial Scheuermann disease - - - - - - - - Autoimmune polyendocrinopathy type 2 - - - - - - - - Scleromyxedema - - - - - - - - Kuru - - - - - - - - Septo-optic dysplasia spectrum - - - - - - - - Severe combined immunodeficiency - - - - - - - - Sézary syndrome - - - - - - - - Sheehan syndrome - - - - - - - - SHORT syndrome - - - - - - - - Sialidosis type 1 - - - - - - - - Arachnodactyly-intellectual disability-dysmorphism syndrome - - - - - - - - Simpson-Golabi-Behmel syndrome - - - - - - - - Sirenomelia - - - - - - - - Sitosterolemia - - - - - - - - Sjögren-Larsson syndrome - - - - - - - - Sneddon syndrome - - - - - - - - Sphingolipidosis - - - - - - - - Isolated spina bifida - - - - - - - - Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia - - - - - - - - Gerstmann-Straussler-Scheinker syndrome - - - - - - - - Sporotrichosis - - - - - - - - Sprengel deformity - - - - - - - - Succinic semialdehyde dehydrogenase deficiency - - - - - - - - Aromatic L-amino acid decarboxylase deficiency - - - - - - - - Stevens-Johnson syndrome - - - - - - - - Sturge-Weber syndrome - - - - - - - - Subacute sclerosing leukoencephalitis - - - - - - - - Congenital sucrase-isomaltase deficiency - - - - - - - - Superior mesenteric artery syndrome - - - - - - - - Susac syndrome - - - - - - - - Sydenham chorea - - - - - - - - Synovial sarcoma - - - - - - - - Syringomyelia - - - - - - - - Takayasu arteritis - - - - - - - - Tangier disease - - - - - - - - Tay-Sachs disease - - - - - - - - Arterial tortuosity syndrome - - - - - - - - Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum - - - - - - - - Hyperphenylalaninemia due to tetrahydrobiopterin deficiency - - - - - - - - Tetrasomy X - - - - - - - - Thoracic outlet syndrome - - - - - - - - Arthrogryposis multiplex congenita - - - - - - - - Tietz syndrome - - - - - - - - Tolosa-Hunt syndrome - - - - - - - - Townes-Brocks syndrome - - - - - - - - Transient erythroblastopenia of childhood - - - - - - - - Transposition of the great arteries - - - - - - - - Tricho-dento-osseous syndrome - - - - - - - - - Trichorhinophalangeal syndrome, type i - - - - - - - - Trichorhinophalangeal syndrome type 2 - - - - - - - - - Trichorhinophalangeal syndrome, type iii - - - - - - - - Trigeminal neuralgia - - - - - - - - African trypanosomiasis - - - - - - - - Tuberculosis - - - - - - - - Tuberculous meningitis - - - - - - - - Tuberous sclerosis complex - - - - - - - - Turner syndrome - - - - - - - - Disorder of urea cycle metabolism and ammonia detoxification - - - - - - - - Arthrogryposis-like hand anomaly-sensorineural deafness syndrome - - - - - - - - Cutaneous mastocytosis - - - - - - - - Usher syndrome - - - - - - - - - Van der woude syndrome 2 - - - - - - - - Porphyria variegata - - - - - - - - Cutaneous small vessel vasculitis - - - - - - - - Vernal keratoconjunctivitis - - - - - - - - Von Hippel-Lindau disease - - - - - - - - Hemophagocytic syndrome associated with an infection - - - - - - - - Distal arthrogryposis - - - - - - - - Pseudopseudohypoparathyroidism - - - - - - - - Vogt-Koyanagi-Harada disease - - - - - - - - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia - - - - - - - - Neurofibromatosis type 1 - - - - - - - - Von Willebrand disease - - - - - - - - Distal arthrogryposis type 1 - - - - - - - - Wagner disease - - - - - - - - Waldenström macroglobulinemia - - - - - - - - Primary intestinal lymphangiectasia - - - - - - - - Autoimmune hemolytic anemia, warm type - - - - - - - - Weaver syndrome - - - - - - - - Nodular non-suppurative panniculitis - - - - - - - - Granulomatosis with polyangiitis - - - - - - - - Leptospirosis - - - - - - - - Proximal spinal muscular atrophy type 1 - - - - - - - - Werner syndrome - - - - - - - - Infantile spasms syndrome - - - - - - - - Western equine encephalitis - - - - - - - - Whipple disease - - - - - - - - Intellectual disability-developmental delay-contractures syndrome - - - - - - - - Williams syndrome - - - - - - - - Nephroblastoma - - - - - - - - Wilson disease - - - - - - - - - Winchester syndrome - - - - - - - - Wiskott-Aldrich syndrome - - - - - - - - Wolf-Hirschhorn syndrome - - - - - - - - Wolfram syndrome - - - - - - - - Wolman disease - - - - - - - - Metaphyseal chondrodysplasia, Jansen type - - - - - - - - Neurogenic arthrogryposis multiplex congenita - - - - - - - - Wyburn-Mason syndrome - - - - - - - - Recessive X-linked ichthyosis - - - - - - - - X-linked lymphoproliferative disease due to SH2D1A deficiency - - - - - - - - Xeroderma pigmentosum - - - - - - - - Yellow fever - - - - - - - - Zellweger syndrome - - - - - - - - Zollinger-Ellison syndrome - - - - - - - - Arthrogryposis multiplex congenita-whistling face syndrome - - - - - - - - Muscular dystrophy - - - - - - - - Arthrogryposis-renal dysfunction-cholestasis syndrome - - - - - - - - Johanson-Blizzard syndrome - - - - - - - - Atrioventricular septal defect - - - - - - - - Alagille syndrome - - - - - - - - Spastic paraplegia-facial-cutaneous lesions syndrome - - - - - - - - Balantidiasis - - - - - - - - - Intellectual developmental disorder, x-linked, syndromic, turner type - - - - - - - - Bangstad syndrome - - - - - - - - Banki syndrome - - - - - - - - Orofaciodigital syndrome type 4 - - - - - - - - IgG4-related mesenteritis - - - - - - - - Achondroplasia - - - - - - - - Cryptomicrotia-brachydactyly-excess fingertip arch syndrome - - - - - - - - - - Hypotrichosis 7 - - - - - - - - Proximal symphalangism - - - - - - - - Conotruncal heart malformations - - - - - - - - Barber-Say syndrome - - - - - - - - Cysticercosis - - - - - - - - Strongyloidiasis - - - - - - - - Smith-Magenis syndrome - - - - - - - - Omenn syndrome - - - - - - - - KBG syndrome - - - - - - - - - Bardet-biedl syndrome 1 - - - - - - - - Immunoglobulin A vasculitis - - - - - - - - Congenital generalized hypertrichosis, Ambras type - - - - - - - - Pineocytoma - - - - - - - - Tropical spastic paraparesis - - - - - - - - - Bardet-biedl syndrome 2 - - - - - - - - Lafora disease - - - - - - - - Mansonelliasis - - - - - - - - - Bardet-biedl syndrome 3 - - - - - - - - B-cell prolymphocytic leukemia - - - - - - - - Chronic myelomonocytic leukemia - - - - - - - - - Bardet-biedl syndrome 4 - - - - - - - - Non-Langerhans cell histiocytosis - - - - - - - - Hemangioblastoma - - - - - - - - Gaucher disease - - - - - - - - Felty syndrome - - - - - - - - Choroid plexus carcinoma - - - - - - - - Immunodeficiency by defective expression of MHC class II - - - - - - - - - Hypersensitivity pneumonitis, familial - - - - - - - - Sea-blue histiocytosis - - - - - - - - Acquired idiopathic sideroblastic anemia - - - - - - - - Omsk hemorrhagic fever - - - - - - - - Kyasanur forest disease - - - - - - - - Plummer-Vinson syndrome - - - - - - - - Frontometaphyseal dysplasia - - - - - - - - Muscular pseudohypertrophy-hypothyroidism syndrome - - - - - - - - Keratolytic winter erythema - - - - - - - - Hereditary amyloidosis with primary renal involvement - - - - - - - - - Diamond-blackfan anemia 2 - - - - - - - - Isolated complex III deficiency - - - - - - - - Autosomal dominant Kenny-Caffey syndrome - - - - - - - - Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome - - - - - - - - Steinert myotonic dystrophy - - - - - - - - Pseudo-von Willebrand disease - - - - - - - - Dendritic cell tumor - - - - - - - - Atelosteogenesis type II - - - - - - - - Mohr-Tranebjaerg syndrome - - - - - - - - Athabaskan brainstem dysgenesis syndrome - - - - - - - - Amish nemaline myopathy - - - - - - - - IgG4-related mediastinitis - - - - - - - - PHACE syndrome - - - - - - - - Marinesco-Sjögren syndrome - - - - - - - - Spondylometaphyseal dysplasia, Golden type - - - - - - - - ABri amyloidosis - - - - - - - - Quebec platelet disorder - - - - - - - - Hypomaturation amelogenesis imperfecta - - - - - - - - Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome - - - - - - - - Epilepsy-microcephaly-skeletal dysplasia syndrome - - - - - - - - X-linked intellectual disability-retinitis pigmentosa syndrome - - - - - - - - Autosomal recessive Kenny-Caffey syndrome - - - - - - - - Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - - - - - - - - Autosomal recessive polycystic kidney disease - - - - - - - - Bazex-Dupré-Christol syndrome - - - - - - - - Generalized arterial calcification of infancy - - - - - - - - 3-hydroxy-3-methylglutaric aciduria - - - - - - - - Ornithine transcarbamylase deficiency - - - - - - - - Brain demyelination due to methionine adenosyltransferase deficiency - - - - - - - - - Lipodystrophy, congenital generalized, type 1 - - - - - - - - - Spermatogenic failure, x-linked, 1 - - - - - - - - Feingold syndrome - - - - - - - - Postaxial acrofacial dysostosis - - - - - - - - Van der Woude syndrome - - - - - - - - Focal facial dermal dysplasia - - - - - - - - - Renal cell carcinoma 4 - - - - - - - - Isolated optic nerve hypoplasia/aplasia - - - - - - - - Ankylosing vertebral hyperostosis with tylosis - - - - - - - - Tetrasomy 12p - - - - - - - - Peters plus syndrome - - - - - - - - Richards-Rundle syndrome - - - - - - - - Iminoglycinuria - - - - - - - - Thyroid hypoplasia - - - - - - - - Immunodeficiency by defective expression of MHC class I - - - - - - - - Crane-Heise syndrome - - - - - - - - Native American myopathy - - - - - - - - King-Denborough syndrome - - - - - - - - Persistent Müllerian duct syndrome - - - - - - - - Frontotemporal dementia - - - - - - - - Isolated anterior cervical hypertrichosis - - - - - - - - - Myotonia congenita, autosomal recessive - - - - - - - - Keutel syndrome - - - - - - - - Tumor necrosis factor receptor 1 associated periodic syndrome - - - - - - - - Beemer-Ertbruggen syndrome - - - - - - - - Autoimmune polyendocrinopathy type 1 - - - - - - - - Melanoma and neural system tumor syndrome - - - - - - - - X-linked recessive ocular albinism - - - - - - - - Muckle-Wells syndrome - - - - - - - - Leber plus disease - - - - - - - - Familial multiple discoid fibromas - - - - - - - - Behçet disease - - - - - - - - Autosomal recessive cutis laxa type 1 - - - - - - - - Acropectoral syndrome - - - - - - - - Musculocontractural Ehlers-Danlos syndrome - - - - - - - - Infantile digital fibromatosis - - - - - - - - Familial papillary or follicular thyroid carcinoma - - - - - - - - - Meningioma, radiation-induced - - - - - - - - African iron overload - - - - - - - - - Usher syndrome, type iic - - - - - - - - Thanatophoric dysplasia - - - - - - - - White sponge nevus - - - - - - - - X-linked Ehlers-Danlos syndrome - - - - - - - - Classical-like Ehlers-Danlos syndrome type 1 - - - - - - - - AREDYLD syndrome - - - - - - - - Huriez syndrome - - - - - - - - X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome - - - - - - - - Infantile-onset X-linked spinal muscular atrophy - - - - - - - - Diffuse panbronchiolitis - - - - - - - - - Pulmonary venoocclusive disease 2, autosomal recessive - - - - - - - - HELLP syndrome - - - - - - - - Macrodactyly of fingers - - - - - - - - Cloverleaf skull-asphyxiating thoracic dysplasia syndrome - - - - - - - - Male infertility with azoospermia or oligozoospermia due to single gene mutation - - - - - - - - - 3mc syndrome 3 - - - - - - - - Attenuated familial adenomatous polyposis - - - - - - - - Hereditary nonpolyposis colon cancer - - - - - - - - Congenital central hypoventilation syndrome - - - - - - - - 46,XY disorder of sex development - - - - - - - - Urocanic aciduria - - - - - - - - Primary progressive aphasia - - - - - - - - Chondrodysplasia punctata - - - - - - - - Gitelman syndrome - - - - - - - - Charcot-Marie-Tooth disease type 2B1 - - - - - - - - Moebius syndrome - - - - - - - - Dermatopathia pigmentosa reticularis - - - - - - - - Infantile convulsions and choreoathetosis - - - - - - - - Dense deposit disease - - - - - - - - - Intellectual developmental disorder, x-linked 14 - - - - - - - - - Wilms tumor 2 - - - - - - - - - Seizures, benign familial infantile, 1 - - - - - - - - Seckel syndrome - - - - - - - - Primary orthostatic tremor - - - - - - - - Benign familial infantile epilepsy - - - - - - - - Steroid-responsive encephalopathy associated with autoimmune thyroiditis - - - - - - - - Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 - - - - - - - - Dysferlin-related limb-girdle muscular dystrophy R2 - - - - - - - - Panuveitis - - - - - - - - - Parkinson disease 3, autosomal dominant - - - - - - - - Vitamin K antagonist embryofetopathy - - - - - - - - Isolated hereditary congenital facial paralysis - - - - - - - - Cantú syndrome - - - - - - - - Cardiocranial syndrome, Pfeiffer type - - - - - - - - - Hypercholesterolemia, familial, 2 - - - - - - - - - X-linked visceral heterotaxy 1 - - - - - - - - Spinal muscular atrophy with respiratory distress type 1 - - - - - - - - Morgagni-Stewart-Morel syndrome - - - - - - - - Ataxia with vitamin E deficiency - - - - - - - - Gastrointestinal stromal tumor - - - - - - - - Chudley-McCullough syndrome - - - - - - - - Cryptorchidism-arachnodactyly-intellectual disability syndrome - - - - - - - - Saldino-Mainzer syndrome - - - - - - - - Acquired angioedema - - - - - - - - Amish lethal microcephaly - - - - - - - - Idiopathic pulmonary fibrosis - - - - - - - - Harlequin syndrome - - - - - - - - Sickle cell anemia - - - - - - - - Systemic mastocytosis - - - - - - - - Primary myelofibrosis - - - - - - - - Uveal melanoma - - - - - - - - Good syndrome - - - - - - - - Microcephaly-cleft palate-abnormal retinal pigmentation syndrome - - - - - - - - Reticular dysgenesis - - - - - - - - Monosomy 18p - - - - - - - - Acute leukemia of ambiguous lineage - - - - - - - - Acute disseminated encephalomyelitis - - - - - - - - Acute zonal occult outer retinopathy - - - - - - - - Congenital alveolar capillary dysplasia - - - - - - - - Erythema elevatum diutinum - - - - - - - - Fibular hemimelia - - - - - - - - Gerstmann syndrome - - - - - - - - Gastroschisis - - - - - - - - Auriculoosteodysplasia - - - - - - - - Chronic beryllium disease - - - - - - - - Kleefstra syndrome - - - - - - - - Crigler-Najjar syndrome type 2 - - - - - - - - Autoimmune lymphoproliferative syndrome - - - - - - - - Severe immune-mediated enteropathy - - - - - - - - Beta-mannosidosis - - - - - - - - Whooping cough - - - - - - - - Osteogenesis imperfecta type 1 - - - - - - - - Osteogenesis imperfecta type 3 - - - - - - - - Osteogenesis imperfecta type 4 - - - - - - - - Gnathodiaphyseal dysplasia - - - - - - - - Osteogenesis imperfecta type 5 - - - - - - - - Microphthalmia, Lenz type - - - - - - - - - - Osteogenesis imperfecta, type vi - - - - - - - - - - - Osteogenesis imperfecta, type vii - - - - - - - - Atypical hemolytic uremic syndrome - - - - - - - - Primary angiitis of the central nervous system - - - - - - - - Tibial hemimelia - - - - - - - - Patella aplasia/hypoplasia - - - - - - - - Beta-thalassemia - - - - - - - - Spheroid body myopathy - - - - - - - - Achondrogenesis type 2 - - - - - - - - Odontochondrodysplasia - - - - - - - - Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome - - - - - - - - Beta-ketothiolase deficiency - - - - - - - - Axial spondylometaphyseal dysplasia - - - - - - - - Paroxysmal kinesigenic dyskinesia - - - - - - - - Paroxysmal non-kinesigenic dyskinesia - - - - - - - - Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality - - - - - - - - Bethlem myopathy - - - - - - - - Hemophilia B - - - - - - - - Childhood-onset hypophosphatasia - - - - - - - - Idiopathic hypersomnia - - - - - - - - - Meckel syndrome, type 2 - - - - - - - - - Meckel syndrome, type 3 - - - - - - - - Greenberg dysplasia - - - - - - - - Arrhinia-choanal atresia-microphthalmia syndrome - - - - - - - - Lethal ataxia with deafness and optic atrophy - - - - - - - - Pleuropulmonary blastoma - - - - - - - - Ocular cicatricial pemphigoid - - - - - - - - Leri pleonosteosis - - - - - - - - Biemond syndrome type 2 - - - - - - - - Bifid nose - - - - - - - - Fallot complex-intellectual disability-growth delay syndrome - - - - - - - - Biotinidase deficiency - - - - - - - - Microcephalic primordial dwarfism, Montreal type - - - - - - - - Hypertelorism-microtia-facial clefting syndrome - - - - - - - - Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome - - - - - - - - Primary Fanconi renotubular syndrome - - - - - - - - Pulmonary agenesis - - - - - - - - Blepharoptosis-myopia-ectopia lentis syndrome - - - - - - - - Treacher-Collins syndrome - - - - - - - - - Treacher collins syndrome 3 - - - - - - - - Agnathia-holoprosencephaly-situs inversus syndrome - - - - - - - - Idiopathic inflammatory myopathy - - - - - - - - Congenital muscular dystrophy - - - - - - - - Blomstrand lethal chondrodysplasia - - - - - - - - Eosinophilic gastroenteritis - - - - - - - - Renal pseudohypoaldosteronism type 1 - - - - - - - - Cardiofaciocutaneous syndrome - - - - - - - - - Retinitis pigmentosa 1 - - - - - - - - Bloom syndrome - - - - - - - - - 3-methylcrotonyl-coa carboxylase 2 deficiency - - - - - - - - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - - - - - - - Syndromic X-linked intellectual disability 7 - - - - - - - - X-linked intellectual disability, Abidi type - - - - - - - - Brody myopathy - - - - - - - - - - 46,xy sex reversal 2 - - - - - - - - Blount disease - - - - - - - - Alpha-N-acetylgalactosaminidase deficiency type 2 - - - - - - - - Roifman syndrome - - - - - - - - Rippling muscle disease - - - - - - - - - Rippling muscle disease 1 - - - - - - - - - Deafness, autosomal dominant 24 - - - - - - - - - Deafness, autosomal dominant 22 - - - - - - - - Familial expansile osteolysis - - - - - - - - ADan amyloidosis - - - - - - - - Blue cone monochromatism - - - - - - - - Hypotrichosis simplex - - - - - - - - - Palmoplantar keratoderma i, striate, focal, or diffuse - - - - - - - - - Keratosis palmoplantaris striata iii - - - - - - - - Kufor-Rakeb syndrome - - - - - - - - Parkinsonian-pyramidal syndrome - - - - - - - - Pyogenic arthritis-pyoderma gangrenosum-acne syndrome - - - - - - - - Lethal congenital contracture syndrome type 2 - - - - - - - - MEHMO syndrome - - - - - - - - North Carolina macular dystrophy - - - - - - - - Brachymorphism-onychodysplasia-dysphalangism syndrome - - - - - - - - Primary membranous glomerulonephritis - - - - - - - - Familial abdominal aortic aneurysm - - - - - - - - Okihiro syndrome - - - - - - - - Progressive pseudorheumatoid arthropathy of childhood - - - - - - - - Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency - - - - - - - - Charcot-Marie-Tooth disease type 1D - - - - - - - - Charcot-Marie-Tooth disease type 1E - - - - - - - - Charcot-Marie-Tooth disease type 1F - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2B - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2E - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2F - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2G - - - - - - - - Charcot-Marie-Tooth disease type 2H - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2I - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2J - - - - - - - - Autosomal dominant Charcot-Marie-Tooth disease type 2K - - - - - - - - Mal de Meleda - - - - - - - - Charcot-Marie-Tooth disease type 4B2 - - - - - - - - Charcot-Marie-Tooth disease type 4C - - - - - - - - Charcot-Marie-Tooth disease type 4E - - - - - - - - Dejerine-Sottas syndrome - - - - - - - - Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - - - - - - - - Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - - - - - - - - Hereditary motor and sensory neuropathy type 5 - - - - - - - - Thiamine-responsive megaloblastic anemia syndrome - - - - - - - - Phocomelia, Schinzel type - - - - - - - - Lymphedema-cerebral arteriovenous anomaly syndrome - - - - - - - - Bone dysplasia, lethal Holmgren type - - - - - - - - Tarsal-carpal coalition syndrome - - - - - - - - Renal agenesis - - - - - - - - Arnold-Chiari malformation type II - - - - - - - - Arnold-Chiari malformation type I - - - - - - - - Severe acute respiratory syndrome - - - - - - - - Parkinson-dementia complex of Guam - - - - - - - - Familial advanced sleep-phase syndrome - - - - - - - - Primary effusion lymphoma - - - - - - - - Tubulointerstitial nephritis and uveitis syndrome - - - - - - - - Early infantile epileptic encephalopathy - - - - - - - - SUNCT syndrome - - - - - - - - Perineural cyst - - - - - - - - Classic glucose transporter type 1 deficiency syndrome - - - - - - - - Cutaneous neuroendocrine carcinoma - - - - - - - - - Glomerulopathy with fibronectin deposits 1 - - - - - - - - Thiel-Behnke corneal dystrophy - - - - - - - - Reis-Bücklers corneal dystrophy - - - - - - - - Schnyder corneal dystrophy - - - - - - - - Granular corneal dystrophy type II - - - - - - - - Formiminoglutamic aciduria - - - - - - - - Cholestasis-pigmentary retinopathy-cleft palate syndrome - - - - - - - - Familial atypical multiple mole melanoma syndrome - - - - - - - - White platelet syndrome - - - - - - - - Ataxia-oculomotor apraxia type 1 - - - - - - - - Amoebic keratitis - - - - - - - - Atelosteogenesis type I - - - - - - - - X-linked intellectual disability, Schimke type - - - - - - - - Microphthalmia-brain atrophy syndrome - - - - - - - - Timothy syndrome - - - - - - - - Thanatophoric dysplasia type 1 - - - - - - - - Autosomal recessive spastic paraplegia type 24 - - - - - - - - WHIM syndrome - - - - - - - - Pyridoxine-dependent epilepsy - - - - - - - - Acute ackee fruit intoxication - - - - - - - - Monilethrix - - - - - - - - Cholangiocarcinoma - - - - - - - - Neuroendocrine neoplasm - - - - - - - - Primary central nervous system lymphoma - - - - - - - - Myeloproliferative neoplasm - - - - - - - - Böök syndrome - - - - - - - - Extragonadal germ cell tumor - - - - - - - - Boomerang dysplasia - - - - - - - - Malignant germ cell tumor of ovary - - - - - - - - Pediatric hepatocellular carcinoma - - - - - - - - Small cell lung cancer - - - - - - - - Vaginal carcinoma - - - - - - - - Vulvar carcinoma - - - - - - - - Myelodysplastic/myeloproliferative disease - - - - - - - - Borjeson-Forssman-Lehmann syndrome - - - - - - - - Malignant epithelial tumor of ovary - - - - - - - - Borderline epithelial tumor of ovary - - - - - - - - Rare tumor of pancreas - - - - - - - - Malignant tumor of penis - - - - - - - - Pineoblastoma - - - - - - - - Pituitary carcinoma - - - - - - - - Plasma cell leukemia - - - - - - - - Upper tract urothelial carcinoma - - - - - - - - Tricho-retino-dento-digital syndrome - - - - - - - - Mucolipidosis type IV - - - - - - - - Tako-Tsubo cardiomyopathy - - - - - - - - Phyllodes tumor of the prostate - - - - - - - - X-linked cerebral adrenoleukodystrophy - - - - - - - - Cochleosaccular degeneration-cataract syndrome - - - - - - - - Diphyllobothriasis - - - - - - - - Pierson syndrome - - - - - - - - - Thyroid carcinoma, hurthle cell - - - - - - - - Rhizomelic chondrodysplasia punctata type 2 - - - - - - - - Botulism - - - - - - - - Congenital thrombotic thrombocytopenic purpura - - - - - - - - Organic aciduria - - - - - - - - - Hermansky-pudlak syndrome 2 - - - - - - - - Ataxia-hypogonadism-choroidal dystrophy syndrome - - - - - - - - Temple-Baraitser syndrome - - - - - - - - Glycogen storage disease due to glycogen debranching enzyme deficiency - - - - - - - - Severe achondroplasia-developmental delay-acanthosis nigricans syndrome - - - - - - - - Marburg hemorrhagic fever - - - - - - - - Infantile neuronal ceroid lipofuscinosis - - - - - - - - Camptodactyly of fingers - - - - - - - - Waterhouse-Friderichsen syndrome - - - - - - - - Familial juvenile hypertrophy of the breast - - - - - - - - Pilomatrixoma - - - - - - - - Andersen-Tawil syndrome - - - - - - - - Joubert syndrome with oculorenal defect - - - - - - - - X-linked sideroblastic anemia - - - - - - - - Isolated polycystic liver disease - - - - - - - - - Loeys-dietz syndrome 1 - - - - - - - - Pseudodiastrophic dysplasia - - - - - - - - - Alzheimer disease, familial, 1 - - - - - - - - Anaplastic oligodendroglioma - - - - - - - - Melorheostosis - - - - - - - - Vitamin B12-responsive methylmalonic acidemia type cblB - - - - - - - - Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis - - - - - - - - Superficial siderosis - - - - - - - - - Glaucoma 1, open angle, a - - - - - - - - Isolated congenital anosmia - - - - - - - - Cyprus facial-neuromusculoskeletal syndrome - - - - - - - - Isolated congenital breast hypoplasia/aplasia - - - - - - - - - Leber congenital amaurosis 9 - - - - - - - - - Cataract 35 - - - - - - - - GNE myopathy - - - - - - - - Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome - - - - - - - - - Amelogenesis imperfecta, hypomaturation type, iia1 - - - - - - - - Hereditary renal hypouricemia - - - - - - - - Aceruloplasminemia - - - - - - - - Mulibrey nanism - - - - - - - - Hereditary geniospasm - - - - - - - - - Porokeratosis 4, disseminated superficial actinic type - - - - - - - - - - Porokeratosis 3, multiple types - - - - - - - - Craniosynostosis-anal anomalies-porokeratosis syndrome - - - - - - - - Cerulean cataract - - - - - - - - Renpenning syndrome - - - - - - - - Histiocytoid cardiomyopathy - - - - - - - - Phyllodes tumor of the breast - - - - - - - - Bilateral multicystic dysplastic kidney - - - - - - - - Coccidioidomycosis - - - - - - - - Cyclosporosis - - - - - - - - Congenital bowing of long bones - - - - - - - - Chronic Epstein-Barr virus infection syndrome - - - - - - - - Familial cold urticaria - - - - - - - - Melioidosis - - - - - - - - Branchioskeletogenital syndrome - - - - - - - - Variant Creutzfeldt-Jakob disease - - - - - - - - Post-transplant lymphoproliferative disease - - - - - - - - Rat-bite fever - - - - - - - - Autosomal dominant severe congenital neutropenia - - - - - - - - Bacterial toxic-shock syndrome - - - - - - - - Typhoid - - - - - - - - IgG4-related retroperitoneal fibrosis - - - - - - - - Dermatofibrosarcoma protuberans - - - - - - - - SPECC1L-related hypertelorism syndrome - - - - - - - - Hereditary clear cell renal cell carcinoma - - - - - - - - Papillary renal cell carcinoma - - - - - - - - Collecting duct carcinoma - - - - - - - - Clear cell renal carcinoma - - - - - - - - Acute fatty liver of pregnancy - - - - - - - - Aymé-Gripp syndrome - - - - - - - - Autosomal recessive spastic paraplegia type 15 - - - - - - - - Autosomal recessive spastic paraplegia type 25 - - - - - - - - Autosomal dominant spastic paraplegia type 9A - - - - - - - - X-linked spastic paraplegia type 16 - - - - - - - - Autosomal dominant spastic paraplegia type 12 - - - - - - - - Autosomal recessive spastic paraplegia type 26 - - - - - - - - Autosomal dominant spastic paraplegia type 19 - - - - - - - - Autosomal recessive spastic paraplegia type 14 - - - - - - - - Autosomal dominant spastic paraplegia type 10 - - - - - - - - Autosomal dominant spastic paraplegia type 8 - - - - - - - - Congenital atransferrinemia - - - - - - - - - Basal ganglia calcification, idiopathic, childhood-onset - - - - - - - - Brachydactylous dwarfism, Mseleni type - - - - - - - - Familial paroxysmal ataxia - - - - - - - - Spinocerebellar ataxia type 13 - - - - - - - - Giant cell arteritis - - - - - - - - Autosomal dominant spastic paraplegia type 13 - - - - - - - - Acute erythroid leukemia - - - - - - - - Polyembryoma - - - - - - - - - - - Axenfeld-rieger syndrome, type 3 - - - - - - - - Rapid-onset dystonia-parkinsonism - - - - - - - - Primary dystonia, DYT6 type - - - - - - - - - Torsion dystonia with onset in infancy - - - - - - - - Odontoleukodystrophy - - - - - - - - - Fundus dystrophy, pseudoinflammatory, recessive form - - - - - - - - Fetal akinesia deformation sequence - - - - - - - - Pruritic urticarial papules and plaques of pregnancy - - - - - - - - Autosomal agammaglobulinemia - - - - - - - - - Parkinson disease 2, autosomal recessive juvenile - - - - - - - - Pseudoxanthoma elasticum - - - - - - - - Gelatinous drop-like corneal dystrophy - - - - - - - - - Achromatopsia 2 - - - - - - - - - Achromatopsia 3 - - - - - - - - Oncogenic osteomalacia - - - - - - - - Hydroa vacciniforme - - - - - - - - Anauxetic dysplasia - - - - - - - - Bartter syndrome type 3 - - - - - - - - Brachydactyly-elbow wrist dysplasia syndrome - - - - - - - - - Leber congenital amaurosis 3 - - - - - - - - - Leber congenital amaurosis 4 - - - - - - - - Gynandroblastoma - - - - - - - - Brachydactyly-arterial hypertension syndrome - - - - - - - - Congenital factor XI deficiency - - - - - - - - Mowat-Wilson syndrome - - - - - - - - Isotretinoin-like syndrome - - - - - - - - Miyoshi myopathy - - - - - - - - Granular corneal dystrophy type I - - - - - - - - Lattice corneal dystrophy type I - - - - - - - - Temtamy preaxial brachydactyly syndrome - - - - - - - - Brachydactyly-long thumb syndrome - - - - - - - - RHYNS syndrome - - - - - - - - Rhizomelic chondrodysplasia punctata type 3 - - - - - - - - Chylomicron retention disease - - - - - - - - Sandifer syndrome - - - - - - - - Schistosomiasis - - - - - - - - Meesmann corneal dystrophy - - - - - - - - - Myasthenic syndrome, congenital, 6, presynaptic - - - - - - - - Kienbock disease - - - - - - - - Congenital patella dislocation - - - - - - - - Junctional epidermolysis bullosa with pyloric atresia - - - - - - - - Ring dermoid of cornea - - - - - - - - Monomelic amyotrophy - - - - - - - - Recombinant 8 syndrome - - - - - - - - - Spinal intradural arachnoid cysts - - - - - - - - - Spondylocostal dysostosis 2, autosomal recessive - - - - - - - - X-linked intellectual disability, Siderius type - - - - - - - - Ectodermal dysplasia-skin fragility syndrome - - - - - - - - Snowflake vitreoretinal degeneration - - - - - - - - Familial cylindromatosis - - - - - - - - Brachydactyly-nystagmus-cerebellar ataxia syndrome - - - - - - - - Lathosterolosis - - - - - - - - Griscelli syndrome type 3 - - - - - - - - Brachydactyly-preaxial hallux varus syndrome - - - - - - - - Ectodermal dysplasia-sensorineural deafness syndrome - - - - - - - - Nephrogenic systemic fibrosis - - - - - - - - - Deafness, autosomal dominant 17 - - - - - - - - Proximal myotonic myopathy - - - - - - - - Autosomal dominant spastic paraplegia type 29 - - - - - - - - Glycogen storage disease due to LAMP-2 deficiency - - - - - - - - Epithelial basement membrane dystrophy - - - - - - - - - Ichthyosis, congenital, autosomal recessive 4a - - - - - - - - - Ichthyosis, congenital, autosomal recessive 5 - - - - - - - - Congenital non-bullous ichthyosiform erythroderma - - - - - - - - Epidermolysis bullosa simplex with mottled pigmentation - - - - - - - - Familial atrial fibrillation - - - - - - - - Neurological conditions associated with aminoacylase 1 deficiency - - - - - - - - Ankylostomiasis - - - - - - - - Atrophoderma vermiculata - - - - - - - - Systemic sclerosis - - - - - - - - Limited systemic sclerosis - - - - - - - - Diffuse cutaneous systemic sclerosis - - - - - - - - Infantile nephropathic cystinosis - - - - - - - - Ocular cystinosis - - - - - - - - Familial hypocalciuric hypercalcemia type 2 - - - - - - - - Leukonychia totalis - - - - - - - - Isolated congenital onychodysplasia - - - - - - - - Potocki-Shaffer syndrome - - - - - - - - Morvan syndrome - - - - - - - - Necrotizing enterocolitis - - - - - - - - Oligoastrocytoma - - - - - - - - Dowling-Degos disease - - - - - - - - CANOMAD syndrome - - - - - - - - Brachydactyly type A1 - - - - - - - - Proximal Xq28 duplication syndrome - - - - - - - - Parkes Weber syndrome - - - - - - - - Rare lymphatic malformation - - - - - - - - Brachydactyly type A2 - - - - - - - - - Epiphyseal dysplasia, multiple, 2 - - - - - - - - - Epiphyseal dysplasia, multiple, 3 - - - - - - - - Multiple epiphyseal dysplasia type 4 - - - - - - - - Multiple epiphyseal dysplasia type 5 - - - - - - - - Naxos disease - - - - - - - - Autoimmune lymphoproliferative syndrome with recurrent viral infections - - - - - - - - Dianzani autoimmune lymphoproliferative disease - - - - - - - - Auriculocondylar syndrome - - - - - - - - Familial cutaneous collagenoma - - - - - - - - Progressive familial intrahepatic cholestasis type 1 - - - - - - - - Progressive familial intrahepatic cholestasis type 4 - - - - - - - - Intrahepatic cholestasis of pregnancy - - - - - - - - Vibratory urticaria - - - - - - - - Pilocytic astrocytoma - - - - - - - - Enteropathy-associated T-cell lymphoma - - - - - - - - Dyssegmental dysplasia, Rolland-Desbuquois type - - - - - - - - Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome - - - - - - - - T-cell large granular lymphocyte leukemia - - - - - - - - Congenital bile acid synthesis defect type 1 - - - - - - - - - Tukel syndrome - - - - - - - - Autosomal dominant dopa-responsive dystonia - - - - - - - - Developmental malformations-deafness-dystonia syndrome - - - - - - - - Catastrophic antiphospholipid syndrome - - - - - - - - Pattern dystrophy - - - - - - - - PMM2-CDG - - - - - - - - ALG3-CDG - - - - - - - - MGAT2-CDG - - - - - - - - ALG6-CDG - - - - - - - - Brachydactyly type A6 - - - - - - - - MPI-CDG - - - - - - - - DPM1-CDG - - - - - - - - MPDU1-CDG - - - - - - - - ALG12-CDG - - - - - - - - ALG8-CDG - - - - - - - - Emanuel syndrome - - - - - - - - ALG2-CDG - - - - - - - - DPAGT1-CDG - - - - - - - - ALG1-CDG - - - - - - - - ALG9-CDG - - - - - - - - Brachydactyly type A7 - - - - - - - - B4GALT1-CDG - - - - - - - - COG7-CDG - - - - - - - - Primary familial polycythemia - - - - - - - - Microcephalic osteodysplastic primordial dwarfism type II - - - - - - - - Heart-hand syndrome, Slovenian type - - - - - - - - Heart-hand syndrome type 2 - - - - - - - - Congenital brain dysgenesis due to glutamine synthetase deficiency - - - - - - - - Goldberg-Shprintzen megacolon syndrome - - - - - - - - Brachydactyly type B - - - - - - - - Omphalocele syndrome, Shprintzen-Goldberg type - - - - - - - - Brachydactyly type C - - - - - - - - - Synostoses, tarsal, carpal, and digital - - - - - - - - Spondyloepimetaphyseal dysplasia with multiple dislocations - - - - - - - - Spinocerebellar ataxia type 14 - - - - - - - - Brachydactyly type E - - - - - - - - Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - - - - - - - - Lateral meningocele syndrome - - - - - - - - - - Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia - - - - - - - - - Aortic aneurysm, familial thoracic 4 - - - - - - - - Fibular aplasia-complex brachydactyly syndrome - - - - - - - - Hyperandrogenism due to cortisone reductase deficiency - - - - - - - - Juvenile myelomonocytic leukemia - - - - - - - - - Noonan syndrome 3 - - - - - - - - Ichthyosis-prematurity syndrome - - - - - - - - Benign concentric annular macular dystrophy - - - - - - - - Pyruvate dehydrogenase phosphatase deficiency - - - - - - - - Autosomal dominant optic atrophy, classic form - - - - - - - - - Cataract 18 - - - - - - - - - Myasthenic syndrome, congenital, 2a, slow-channel - - - - - - - - Posterior column ataxia-retinitis pigmentosa syndrome - - - - - - - - Brachydactyly type A4 - - - - - - - - Congenital pulmonary lymphangiectasia - - - - - - - - - Telangiectasia, hereditary hemorrhagic, type 2 - - - - - - - - - Telangiectasia, hereditary hemorrhagic, type 3 - - - - - - - - Polysyndactyly - - - - - - - - Osteosclerosis-ichthyosis-premature ovarian failure syndrome - - - - - - - - Lynch syndrome - - - - - - - - - Amyopathic dermatomyositis - - - - - - - - - Arthrogryposis, distal, type 2b1 - - - - - - - - Lethal acantholytic erosive disorder - - - - - - - - - Fibromatosis, gingival, 3 - - - - - - - - Lennox-Gastaut syndrome - - - - - - - - - Glomerulopathy with fibronectin deposits 2 - - - - - - - - - Multiple synostoses syndrome 2 - - - - - - - - - Deafness, autosomal recessive 51 - - - - - - - - - Deafness, autosomal recessive 55 - - - - - - - - Oculoosteocutaneous syndrome - - - - - - - - Mitochondrial neurogastrointestinal encephalomyopathy - - - - - - - - Nasu-Hakola disease - - - - - - - - - Hemophagocytic lymphohistiocytosis, familial, 2 - - - - - - - - - Hemophagocytic lymphohistiocytosis, familial, 3 - - - - - - - - - Hemophagocytic lymphohistiocytosis, familial, 4 - - - - - - - - Hyperinsulinism-hyperammonemia syndrome - - - - - - - - Exercise-induced hyperinsulinism - - - - - - - - - Deafness, autosomal dominant 3a - - - - - - - - - Deafness, autosomal dominant 53 - - - - - - - - - Deafness, autosomal recessive 47 - - - - - - - - Hypohidrotic ectodermal dysplasia with immunodeficiency - - - - - - - - - Myopia 6 - - - - - - - - Spondyloepiphyseal dysplasia, Maroteaux type - - - - - - - - CEDNIK syndrome - - - - - - - - Facioscapulohumeral dystrophy - - - - - - - - - Amelogenesis imperfecta, type ie - - - - - - - - - Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 - - - - - - - - X-linked intellectual disability-cerebellar hypoplasia syndrome - - - - - - - - - Brachyolmia type 1, hobaek type - - - - - - - - Spinocerebellar ataxia type 23 - - - - - - - - Spinocerebellar ataxia type 28 - - - - - - - - Congenital primary aphakia - - - - - - - - Oligodendroglioma - - - - - - - - West-Nile encephalitis - - - - - - - - Spinocerebellar ataxia type 27 - - - - - - - - Glycogen storage disease due to phosphoglycerate mutase deficiency - - - - - - - - Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency - - - - - - - - - Duane retraction syndrome 2 - - - - - - - - Spinocerebellar ataxia type 4 - - - - - - - - Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - - - - - - - - Spinocerebellar ataxia type 31 - - - - - - - - Spinocerebellar ataxia type 18 - - - - - - - - CAMOS syndrome - - - - - - - - Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome - - - - - - - - X-linked spinocerebellar ataxia type 4 - - - - - - - - X-linked spinocerebellar ataxia type 3 - - - - - - - - - Leber congenital amaurosis 5 - - - - - - - - X-linked intellectual disability, Miles-Carpenter type - - - - - - - - Severe combined immunodeficiency due to DCLRE1C deficiency - - - - - - - - Mandibuloacral dysplasia with type B lipodystrophy - - - - - - - - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - - - - - - - Riboflavin transporter deficiency - - - - - - - - Clark-Baraitser syndrome - - - - - - - - Spinocerebellar ataxia type 26 - - - - - - - - Spinocerebellar ataxia type 25 - - - - - - - - Spinocerebellar ataxia type 20 - - - - - - - - Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome - - - - - - - - Spinocerebellar ataxia type 21 - - - - - - - diff --git a/src/sparql/gard-relevant-signature.sparql b/src/sparql/gard-relevant-signature.sparql deleted file mode 100644 index c5a11aab..00000000 --- a/src/sparql/gard-relevant-signature.sparql +++ /dev/null @@ -1,6 +0,0 @@ -prefix owl: - -SELECT DISTINCT ?term { - ?term a owl:Class . - FILTER(isIRI(?term) && (regex(str(?term), "http://purl.obolibrary.org/obo/GARD_"))) -}