From 8ce3689c91524ccca5333522dc27c304c8c92008 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Mon, 24 Jun 2024 22:45:58 +0300 Subject: [PATCH] Feature data release and patch for the lexmatch generation (#582) * Add confidence fill conditional in lexmatch compare Currently the filter_redundant_rows in the sssom packages fails when 1. There is a confidence columns and 2. no single value is set This needs to be fixed in sssom package. In the meantime, this is a workaround. * Update all data * update ingest data files * Delete src/ontology/check_me_out.sssom.tsv * Another re-run --- docs/metrics/doid.md | 2 +- docs/metrics/gard.md | 2 +- docs/metrics/icd10cm.md | 2 +- docs/metrics/icd10who.md | 2 +- docs/metrics/icd11foundation.md | 2 +- docs/metrics/ncit.md | 2 +- docs/metrics/omim.md | 2 +- docs/metrics/ordo.md | 2 +- docs/reports/migrate.md | 4 +- docs/reports/migrate_omim.md | 21 +- docs/reports/migrate_ordo.md | 16 +- docs/reports/unmapped.md | 4 +- docs/reports/unmapped_omim.md | 19 +- docs/reports/unmapped_ordo.md | 120 +- src/mappings/gard.sssom.tsv | 2 +- src/mappings/icd10cm.sssom.tsv | 2 +- src/mappings/icd10who.sssom.tsv | 2 +- src/mappings/icd11foundation.sssom.tsv | 2 +- src/mappings/mondo-nando.sssom.tsv | 2 +- src/mappings/ncit.sssom.tsv | 2 +- .../external/nando-mappings.robot.owl | 2 +- src/ontology/external/nord.robot.owl | 37 +- src/ontology/external/nord.robot.tsv | 2 + src/ontology/external/ordo-subsets.robot.owl | 142 +- src/ontology/external/ordo-subsets.robot.tsv | 10 + src/ontology/imports/omo_import.owl | 4 +- src/ontology/imports/ro_import.owl | 4 +- src/ontology/lexmatch/README.md | 30 +- .../mondo-only/unmapped_doid_mondo.tsv | 66 +- .../mondo-only/unmapped_icd10cm_mondo.tsv | 4 +- .../mondo-only/unmapped_icd10who_mondo.tsv | 2 +- .../mondo-only/unmapped_ncit_mondo.tsv | 50 +- .../mondo-only/unmapped_ncit_mondo_exact.tsv | 16 +- .../mondo-only/unmapped_omim_mondo.tsv | 234 +-- .../mondo-only/unmapped_ordo_mondo.tsv | 1758 ++++++++-------- .../mondo_broadmatch_icd10cm.tsv | 4 +- .../mondo_closematch_icd10cm.tsv | 4 +- .../mondo_closematch_omim.tsv | 53 - .../mondo_closematch_orphanet.tsv | 4 - .../mondo_exactmatch_doid.tsv | 66 +- .../mondo_exactmatch_icd10cm.tsv | 5 +- .../mondo_exactmatch_icd10who.tsv | 2 +- .../mondo_exactmatch_icd11.foundation.tsv | 2 +- .../mondo_exactmatch_ncit.tsv | 66 +- .../mondo_exactmatch_omim.tsv | 228 +-- .../mondo_exactmatch_omimps.tsv | 10 +- .../mondo_exactmatch_orphanet.tsv | 1760 ++++++++--------- .../lexmatch/unmapped_icd10cm_lex.tsv | 1 - .../lexmatch/unmapped_icd11foundation_lex.tsv | 2 +- src/ontology/metadata/doid-metrics.json | 2 +- src/ontology/metadata/gard-metrics.json | 2 +- src/ontology/metadata/icd10cm-metrics.json | 2 +- src/ontology/metadata/icd10who-metrics.json | 2 +- .../metadata/icd11foundation-metrics.json | 2 +- src/ontology/metadata/ncit-metrics.json | 2 +- src/ontology/metadata/omim-metrics.json | 2 +- src/ontology/metadata/ordo-metrics.json | 2 +- .../reports/doid.subclass.added.robot.tsv | 2 +- .../reports/doid.subclass.confirmed.robot.tsv | 1 - .../reports/mirror_signature-mondo.tsv | 198 ++ .../reports/ncit.subclass.confirmed.robot.tsv | 1 - .../reports/omim.subclass.confirmed.robot.tsv | 15 + src/ontology/reports/omim_mapping_status.tsv | 30 +- src/ontology/reports/omim_unmapped_terms.tsv | 15 - .../ordo.subclass.added-obsolete.robot.tsv | 10 + .../reports/ordo.subclass.confirmed.robot.tsv | 11 + src/ontology/reports/ordo_mapping_status.tsv | 20 +- src/ontology/reports/ordo_unmapped_terms.tsv | 10 - .../reports/sync-subClassOf.confirmed.tsv | 28 +- .../sync-subClassOf.direct-in-mondo-only.tsv | 33 +- src/ontology/slurp/omim.tsv | 15 - src/ontology/slurp/ordo.tsv | 10 - src/scripts/lexmatch-sssom-compare.py | 8 + 73 files changed, 2758 insertions(+), 2445 deletions(-) delete mode 100644 src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv delete mode 100644 src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 3be825be..3454b2cf 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/doid.owl ### Entities and axioms diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md index 8b28e7cc..cbd4dcc8 100644 --- a/docs/metrics/gard.md +++ b/docs/metrics/gard.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/gard.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index c82972e6..b1408c0b 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index 47727244..16b06f90 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/icd11foundation.md b/docs/metrics/icd11foundation.md index f3eb9e2b..8c17fa74 100644 --- a/docs/metrics/icd11foundation.md +++ b/docs/metrics/icd11foundation.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/icd11foundation.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/icd11foundation.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index bb4cabf6..951df7f8 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index eef3c6ed..26afd750 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/omim.owl ### Entities and axioms diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index 27f6a4c2..d56774ca 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/ordo.owl ### Entities and axioms diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md index b3491150..65ab1d9b 100644 --- a/docs/reports/migrate.md +++ b/docs/reports/migrate.md @@ -4,11 +4,11 @@ | [GARD](./migrate_gard.md) | 9,370 | | [DOID](./migrate_doid.md) | 34 | | [NCIT](./migrate_ncit.md) | 2,209 | -| [OMIM](./migrate_omim.md) | 15 | | [ICD11FOUNDATION](./migrate_icd11foundation.md) | 12,409 | | [ICD10WHO](./migrate_icd10who.md) | 119 | -| [ORDO](./migrate_ordo.md) | 10 | | [ICD10CM](./migrate_icd10cm.md) | 1,889 | +| [OMIM](./migrate_omim.md) | 0 | +| [ORDO](./migrate_ordo.md) | 0 | ### Codebook `Ontology`: Name of ontology diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md index 711a96d8..9e7ada16 100644 --- a/docs/reports/migrate_omim.md +++ b/docs/reports/migrate_omim.md @@ -2,21 +2,6 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/omim.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:0970998 | immunodeficiency 121 with autoinflammation | OMIM:620807 | MONDO:equivalentTo | immunodeficiency 121 with autoinflammation | | MONDO:0021094 | -| MONDO:0971002 | spermatogenic failure 94 | OMIM:620850 | MONDO:equivalentTo | spermatogenic failure 94 | | MONDO:0004983 | -| MONDO:0971004 | amyloidosis, hereditary systemic 1 | OMIM:105210 | MONDO:equivalentTo | amyloidosis, hereditary systemic 1 | | MONDO:0007100 | -| MONDO:0971005 | mhc class 2 deficiency 1 | OMIM:209920 | MONDO:equivalentTo | mhc class 2 deficiency 1 | | MONDO:0031520|MONDO:0008855 | -| MONDO:0971006 | mhc class 1 deficiency 1 | OMIM:604571 | MONDO:equivalentTo | mhc class 1 deficiency 1 | | MONDO:0011476 | -| MONDO:0971007 | neuroocular syndrome 1 | OMIM:619539 | MONDO:equivalentTo | neuroocular syndrome 1 | | MONDO:0859193 | -| MONDO:0971008 | amyloidosis, hereditary systemic 3 | OMIM:620657 | MONDO:equivalentTo | amyloidosis, hereditary systemic 3 | | MONDO:0007100 | -| MONDO:0971009 | amyloidosis, hereditary systemic 5 | OMIM:620658 | MONDO:equivalentTo | amyloidosis, hereditary systemic 5 | | MONDO:0007100 | -| MONDO:0971010 | amyloidosis, hereditary systemic 6 | OMIM:620659 | MONDO:equivalentTo | amyloidosis, hereditary systemic 6 | | MONDO:0007100 | -| MONDO:0971011 | mhc class 1 deficiency 2 | OMIM:620813 | MONDO:equivalentTo | mhc class 1 deficiency 2 | | MONDO:0011476 | -| MONDO:0971012 | mhc class 1 deficiency 3 | OMIM:620814 | MONDO:equivalentTo | mhc class 1 deficiency 3 | | MONDO:0011476 | -| MONDO:0971013 | mhc class 2 deficiency 2 | OMIM:620815 | MONDO:equivalentTo | mhc class 2 deficiency 2 | | MONDO:0008855 | -| MONDO:0971014 | mhc class 2 deficiency 3 | OMIM:620816 | MONDO:equivalentTo | mhc class 2 deficiency 3 | | MONDO:0008855 | -| MONDO:0971015 | mhc class 2 deficiency 4 | OMIM:620817 | MONDO:equivalentTo | mhc class 2 deficiency 4 | | MONDO:0008855 | -| MONDO:0971016 | mhc class 2 deficiency 5 | OMIM:620818 | MONDO:equivalentTo | mhc class 2 deficiency 5 | | MONDO:0008855 | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | +|:-----------|:--------------|:---------------------|:---------------------------|:-----------------|:--------------|:----------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | \ No newline at end of file diff --git a/docs/reports/migrate_ordo.md b/docs/reports/migrate_ordo.md index 3e371a7f..b88ee864 100644 --- a/docs/reports/migrate_ordo.md +++ b/docs/reports/migrate_ordo.md @@ -2,16 +2,6 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/ordo.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | subset | -|:--------------|:-----------------------------------------------------|:---------------------|:---------------------------|:-----------------------------------------------------|:---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:--------------------------------------------------------|:----------------------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | | -| MONDO:0968990 | genetic central precocious puberty in male | Orphanet:650097 | MONDO:equivalentTo | Genetic central precocious puberty in male | | MONDO:8000031|MONDO:0958356 | subtype of a disorder | -| MONDO:0968991 | non-genetic central precocious puberty in male | Orphanet:650102 | MONDO:equivalentTo | Non-genetic central precocious puberty in male | | MONDO:0958356|MONDO:8000031 | subtype of a disorder | -| MONDO:0970957 | terminal extramedullary conus spinal cord lipoma | Orphanet:645288 | MONDO:equivalentTo | Terminal extramedullary conus spinal cord lipoma | A rare form of extramedullary conus region spinal cord lipoma characterized by its location, extending from the poorly delineated tip of the conus. | MONDO:0968987|MONDO:8000031 | subtype of a disorder | -| MONDO:0970958 | transitional extramedullary conus spinal cord lipoma | Orphanet:645291 | MONDO:equivalentTo | Transitional extramedullary conus spinal cord lipoma | A rare form of extramedullary conus region spinal cord lipoma characterized by a location at the posterior surface of the conus and its tip. i.e-"transitional" between posterior and terminal conus region spinal cord lipoma. | MONDO:0968987|MONDO:8000031 | subtype of a disorder | -| MONDO:0970959 | posterior extramedullary conus spinal cord lipoma | Orphanet:645294 | MONDO:equivalentTo | Posterior extramedullary conus spinal cord lipoma | A rare form of conus region spinal cord lipoma characterized by its location where the interface between the lipoma and the spinal cord is strictcly above the level of the tip of the conus. The tip of the conus is readily delineated. | MONDO:0968987|MONDO:8000031 | subtype of a disorder | -| MONDO:0970960 | lipomatous non-saccular limited dorsal myeloschisis | Orphanet:645300 | MONDO:equivalentTo | Lipomatous non-saccular limited dorsal myeloschisis | A rare non-saccular limited dorsal myeloschisis histologically characterized by skin tissue with a jagged depression of squamous epithelium continued to subcutaneous mature adipose tissue with loose connective tissue. GFAP-immunopositive glial cells are embedded in the subcutaneous lipoma. The extradural and intradural stalk have cord-like fibrocollagenous tissue containing adipose tissue, peripheral nerve fibers, clusters of melanocytes, and skeletal muscle fibers. | MONDO:0968989|MONDO:8000031 | subtype of a disorder | -| MONDO:0970961 | fibroneural non-saccular limited dorsal myeloschisis | Orphanet:645310 | MONDO:equivalentTo | Fibroneural non-saccular limited dorsal myeloschisis | A rare non-saccular limited dorsal myeloschisis, in which the stalk histology is characterized by skin tissue with dermo-epidermal epithelium in continuity with a subcutaneous fibrocollagenous tract containing various ectopic tissues. | MONDO:8000031|MONDO:0968989 | subtype of a disorder | -| MONDO:0970962 | terminal myelocystocele | Orphanet:645337 | MONDO:equivalentTo | Terminal myelocystocele | A rare closed spinal dysraphism characterized by a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). | MONDO:0968988|MONDO:8000034|MONDO:8000030|MONDO:0017077 | disorder | -| MONDO:0970963 | saccular limited dorsal myeloschisis | Orphanet:645354 | MONDO:equivalentTo | Saccular limited dorsal myeloschisis | A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present. | MONDO:0968988|MONDO:8000034|MONDO:8000030 | disorder | -| MONDO:0970964 | myelic limited dorsal malformation | Orphanet:645378 | MONDO:equivalentTo | Myelic limited dorsal malformation | A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulated spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized. | MONDO:0968988|MONDO:8000034|MONDO:8000030 | disorder | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | subset | +|:-----------|:--------------|:---------------------|:---------------------------|:-----------------|:--------------|:----------|:---------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index 5996c144..d6086dc2 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -6,9 +6,9 @@ | [NCIT](./unmapped_ncit.md) | 191,123 | 169,937 | 5,221 | 5,199 | 15,965 | 3,675 | 12,290 | 77.0% | | [ICD11FOUNDATION](./unmapped_icd11foundation.md) | 100,382 | 30,335 | 6,587 | 6,587 | 64,451 | 0 | 64,451 | 100.0% | | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | -| [ORDO](./unmapped_ordo.md) | 15,402 | 6,212 | 1,391 | 1,165 | 9,190 | 9,127 | 63 | 0.7% | +| [ORDO](./unmapped_ordo.md) | 15,402 | 6,212 | 1,391 | 1,165 | 9,190 | 9,137 | 53 | 0.6% | | [DOID](./unmapped_doid.md) | 14,058 | 2,655 | 2,483 | 2,468 | 11,401 | 11,367 | 34 | 0.3% | -| [OMIM](./unmapped_omim.md) | 29,362 | 19,260 | 1,364 | 1,318 | 8,739 | 8,724 | 15 | 0.2% | +| [OMIM](./unmapped_omim.md) | 29,362 | 19,260 | 1,364 | 1,318 | 8,739 | 8,739 | 0 | 0.0% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index 1a2c434a..e80e4c1c 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -2,20 +2,5 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/omim_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:-------------|:-------------------------------------------| -| OMIM:105210 | amyloidosis, hereditary systemic 1 | -| OMIM:620657 | amyloidosis, hereditary systemic 3 | -| OMIM:620658 | amyloidosis, hereditary systemic 5 | -| OMIM:620659 | amyloidosis, hereditary systemic 6 | -| OMIM:620807 | immunodeficiency 121 with autoinflammation | -| OMIM:604571 | mhc class 1 deficiency 1 | -| OMIM:620813 | mhc class 1 deficiency 2 | -| OMIM:620814 | mhc class 1 deficiency 3 | -| OMIM:209920 | mhc class 2 deficiency 1 | -| OMIM:620815 | mhc class 2 deficiency 2 | -| OMIM:620816 | mhc class 2 deficiency 3 | -| OMIM:620817 | mhc class 2 deficiency 4 | -| OMIM:620818 | mhc class 2 deficiency 5 | -| OMIM:619539 | neuroocular syndrome 1 | -| OMIM:620850 | spermatogenic failure 94 | \ No newline at end of file +| subject_id | subject_label | +|--------------|-----------------| \ No newline at end of file diff --git a/docs/reports/unmapped_ordo.md b/docs/reports/unmapped_ordo.md index 617150af..e444c82a 100644 --- a/docs/reports/unmapped_ordo.md +++ b/docs/reports/unmapped_ordo.md @@ -2,68 +2,58 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/ordo_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:----------------|:-----------------------------------------------------| -| Orphanet:409975 | 1-5 / 10 000 | -| Orphanet:409976 | 1-9 / 1 000 000 | -| Orphanet:409977 | 1-9 / 100 000 | -| Orphanet:409978 | 6-9 / 10 000 | -| Orphanet:409979 | <1 / 1 000 000 | -| Orphanet:409980 | >1 / 1000 | -| Orphanet:645310 | Fibroneural non-saccular limited dorsal myeloschisis | -| Orphanet:650097 | Genetic central precocious puberty in male | -| Orphanet:645300 | Lipomatous non-saccular limited dorsal myeloschisis | -| Orphanet:645378 | Myelic limited dorsal malformation | -| Orphanet:650102 | Non-genetic central precocious puberty in male | -| Orphanet:645294 | Posterior extramedullary conus spinal cord lipoma | -| Orphanet:645354 | Saccular limited dorsal myeloschisis | -| Orphanet:645288 | Terminal extramedullary conus spinal cord lipoma | -| Orphanet:645337 | Terminal myelocystocele | -| Orphanet:645291 | Transitional extramedullary conus spinal cord lipoma | -| Orphanet:409981 | Unknown_epidemiological_range | -| Orphanet:409934 | X-linked dominant | -| Orphanet:409932 | X-linked recessive | -| Orphanet:409938 | Y-linked | -| Orphanet:409947 | adolescent | -| Orphanet:409948 | adult | -| Orphanet:C023 | age of onset | -| Orphanet:409950 | all ages | -| Orphanet:409967 | annual incidence | -| Orphanet:409943 | antenatal | -| Orphanet:409929 | autosomal dominant | -| Orphanet:409930 | autosomal recessive | -| Orphanet:409968 | birth prevalence | -| Orphanet:409973 | case | -| Orphanet:409970 | cases/families | -| Orphanet:557495 | category | -| Orphanet:409946 | childhood | -| Orphanet:377794 | clinical group | -| Orphanet:377796 | clinical subtype | -| Orphanet:409949 | elderly | -| Orphanet:C003 | epidemiology | -| Orphanet:377795 | etiological subtype | -| Orphanet:409974 | family | -| Orphanet:C009 | geography | -| Orphanet:C032 | has_annual_incidence_average_value | -| Orphanet:C020 | has_annual_incidence_range | -| Orphanet:C029 | has_birth_prevalence_average_value | -| Orphanet:C026 | has_birth_prevalence_range | -| Orphanet:C024 | has_cases/families_value | -| Orphanet:C030 | has_lifetime_prevalence_average_value | -| Orphanet:C027 | has_lifetime_prevalence_range | -| Orphanet:C028 | has_point_prevalence_average_value | -| Orphanet:C025 | has_point_prevalence_range | -| Orphanet:377797 | histopathological subtype | -| Orphanet:409945 | infancy | -| Orphanet:C005 | inheritance | -| Orphanet:409969 | lifetime prevalence | -| Orphanet:409933 | mitochondrial | -| Orphanet:409931 | multigenic/multifactorial | -| Orphanet:409944 | neonatal | -| Orphanet:409951 | no age of onset data available | -| Orphanet:409940 | no inheritance data available | -| Orphanet:409936 | oligogenic | -| Orphanet:409966 | point prevalence | -| Orphanet:C004 | prevalence | -| Orphanet:409937 | semi-dominant | -| Orphanet:409939 | unknown inheritance | \ No newline at end of file +| subject_id | subject_label | +|:----------------|:--------------------------------------| +| Orphanet:409975 | 1-5 / 10 000 | +| Orphanet:409976 | 1-9 / 1 000 000 | +| Orphanet:409977 | 1-9 / 100 000 | +| Orphanet:409978 | 6-9 / 10 000 | +| Orphanet:409979 | <1 / 1 000 000 | +| Orphanet:409980 | >1 / 1000 | +| Orphanet:409981 | Unknown_epidemiological_range | +| Orphanet:409934 | X-linked dominant | +| Orphanet:409932 | X-linked recessive | +| Orphanet:409938 | Y-linked | +| Orphanet:409947 | adolescent | +| Orphanet:409948 | adult | +| Orphanet:C023 | age of onset | +| Orphanet:409950 | all ages | +| Orphanet:409967 | annual incidence | +| Orphanet:409943 | antenatal | +| Orphanet:409929 | autosomal dominant | +| Orphanet:409930 | autosomal recessive | +| Orphanet:409968 | birth prevalence | +| Orphanet:409973 | case | +| Orphanet:409970 | cases/families | +| Orphanet:557495 | category | +| Orphanet:409946 | childhood | +| Orphanet:377794 | clinical group | +| Orphanet:377796 | clinical subtype | +| Orphanet:409949 | elderly | +| Orphanet:C003 | epidemiology | +| Orphanet:377795 | etiological subtype | +| Orphanet:409974 | family | +| Orphanet:C009 | geography | +| Orphanet:C032 | has_annual_incidence_average_value | +| Orphanet:C020 | has_annual_incidence_range | +| Orphanet:C029 | has_birth_prevalence_average_value | +| Orphanet:C026 | has_birth_prevalence_range | +| Orphanet:C024 | has_cases/families_value | +| Orphanet:C030 | has_lifetime_prevalence_average_value | +| Orphanet:C027 | has_lifetime_prevalence_range | +| Orphanet:C028 | has_point_prevalence_average_value | +| Orphanet:C025 | has_point_prevalence_range | +| Orphanet:377797 | histopathological subtype | +| Orphanet:409945 | infancy | +| Orphanet:C005 | inheritance | +| Orphanet:409969 | lifetime prevalence | +| Orphanet:409933 | mitochondrial | +| Orphanet:409931 | multigenic/multifactorial | +| Orphanet:409944 | neonatal | +| Orphanet:409951 | no age of onset data available | +| Orphanet:409940 | no inheritance data available | +| Orphanet:409936 | oligogenic | +| Orphanet:409966 | point prevalence | +| Orphanet:C004 | prevalence | +| Orphanet:409937 | semi-dominant | +| Orphanet:409939 | unknown inheritance | \ No newline at end of file diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index 57139937..770fdc9b 100644 --- a/src/mappings/gard.sssom.tsv +++ b/src/mappings/gard.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/3307157d-269d-484d-8e06-41bb182eeb18 +# mapping_set_id: https://w3id.org/sssom/mappings/18a2a727-f8e9-4de0-a2b8-92b9b138283a subject_id subject_label predicate_id object_id mapping_justification obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index 6f1f6b51..bbd23a39 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/31eb5c24-9668-4254-ab1a-254b5120643c +# mapping_set_id: https://w3id.org/sssom/mappings/a9e1be86-294e-4f17-9448-08eb7f330f6c diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index 26d8ae08..6005796c 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/425592e1-c66c-434b-a6a8-e0e984eab321 +# mapping_set_id: https://w3id.org/sssom/mappings/4d854045-d67f-457f-be67-ba31b65c9ae4 diff --git a/src/mappings/icd11foundation.sssom.tsv b/src/mappings/icd11foundation.sssom.tsv index be90b3e3..d96573ba 100644 --- a/src/mappings/icd11foundation.sssom.tsv +++ b/src/mappings/icd11foundation.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/16710c1c-e2ed-4759-ae4e-59d2b40613ea +# mapping_set_id: https://w3id.org/sssom/mappings/0a2f69eb-b2de-4d98-98c4-7364ff97a7cf diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index 50cb6e55..463ea11c 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -15,7 +15,7 @@ # mapping_provider: MONDO:NANDO # mapping_set_description: This mapping set is manually curated by the NANDO team at # nanbyodata.jp. -# mapping_set_id: https://w3id.org/sssom/mappings/3a0d09d4-0e56-4e68-862c-7f248f6e9fc9 +# mapping_set_id: https://w3id.org/sssom/mappings/16419892-02de-4b09-8e42-71d04ee7c6e1 # mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp subject_id subject_label predicate_id object_id object_label mapping_justification MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index 388a0ec9..97bb8a87 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/66648e7f-532b-4149-94fc-23c100d2699f +# mapping_set_id: https://w3id.org/sssom/mappings/574a0bf3-f0df-4a09-aa25-df661df78c48 subject_id subject_label predicate_id object_id mapping_justification NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching diff --git a/src/ontology/external/nando-mappings.robot.owl b/src/ontology/external/nando-mappings.robot.owl index 5b156b34..3af6ffd5 100644 --- a/src/ontology/external/nando-mappings.robot.owl +++ b/src/ontology/external/nando-mappings.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/nord.robot.owl b/src/ontology/external/nord.robot.owl index ca2c0b71..86cdc66d 100644 --- a/src/ontology/external/nord.robot.owl +++ b/src/ontology/external/nord.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -123109,6 +123109,27 @@ + + + + Bile Acid Synthesis Disorders + + + + + + Bile Acid Synthesis Disorders + http://purl.obolibrary.org/obo/mondo#NORD_LABEL + + + + + + MONDO:NORD + + + + @@ -135833,6 +135854,20 @@ + + + + + + + + + + MONDO:NORD + + + + diff --git a/src/ontology/external/nord.robot.tsv b/src/ontology/external/nord.robot.tsv index a88d0716..a28c2796 100644 --- a/src/ontology/external/nord.robot.tsv +++ b/src/ontology/external/nord.robot.tsv @@ -2094,6 +2094,7 @@ MONDO:0019255 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0019249 NORD:1461 MONDO:NORD Mucopolysaccharidoses NORD:1461 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1461 MONDO:NORD MONDO:0019234 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019233 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019218 Bile Acid Synthesis Disorders http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019209 NORD:1088 MONDO:NORD Encephalitis, Japanese NORD:1088 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1088 MONDO:NORD @@ -10157,6 +10158,7 @@ MONDO:0035160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0034217 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0034147 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0022399 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0021952 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020537 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020506 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020392 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD diff --git a/src/ontology/external/ordo-subsets.robot.owl b/src/ontology/external/ordo-subsets.robot.owl index 0ceed06e..c8d3f2f7 100644 --- a/src/ontology/external/ordo-subsets.robot.owl +++ b/src/ontology/external/ordo-subsets.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -130529,6 +130529,146 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:650097 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:650102 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:645288 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:645291 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:645294 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:645300 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:645310 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:645337 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:645354 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:645378 + + + + diff --git a/src/ontology/external/ordo-subsets.robot.tsv b/src/ontology/external/ordo-subsets.robot.tsv index 3c66b93e..febafd9f 100644 --- a/src/ontology/external/ordo-subsets.robot.tsv +++ b/src/ontology/external/ordo-subsets.robot.tsv @@ -9341,6 +9341,16 @@ MONDO:0968986 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645285 MONDO:0968987 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645297 extramedullary conus spinal cord lipoma Extramedullary conus spinal cord lipoma MONDO:0968988 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:645319 saccular spinal dysraphism with a stalk to the dome Saccular spinal dysraphism with a stalk to the dome MONDO:0968989 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645343 non-saccular limited dorsal myeloschisis Non-saccular limited dorsal myeloschisis +MONDO:0968990 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:650097 genetic central precocious puberty in male Genetic central precocious puberty in male +MONDO:0968991 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:650102 non-genetic central precocious puberty in male Non-genetic central precocious puberty in male +MONDO:0970957 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:645288 terminal extramedullary conus spinal cord lipoma Terminal extramedullary conus spinal cord lipoma +MONDO:0970958 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:645291 transitional extramedullary conus spinal cord lipoma Transitional extramedullary conus spinal cord lipoma +MONDO:0970959 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:645294 posterior extramedullary conus spinal cord lipoma Posterior extramedullary conus spinal cord lipoma +MONDO:0970960 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:645300 lipomatous non-saccular limited dorsal myeloschisis Lipomatous non-saccular limited dorsal myeloschisis +MONDO:0970961 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:645310 fibroneural non-saccular limited dorsal myeloschisis Fibroneural non-saccular limited dorsal myeloschisis +MONDO:0970962 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645337 terminal myelocystocele Terminal myelocystocele +MONDO:0970963 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645354 saccular limited dorsal myeloschisis Saccular limited dorsal myeloschisis +MONDO:0970964 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645378 myelic limited dorsal malformation Myelic limited dorsal malformation MONDO:8000006 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:51636 WHIM syndrome 1 WHIM syndrome MONDO:8000008 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1387 Martsolf syndrome 1 Cataract-intellectual disability-hypogonadism syndrome MONDO:8000010 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:80 antiphospholipid syndrome Antiphospholipid syndrome diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 0565067c..e50b8f5e 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-06-18") +Annotation(owl:versionInfo "2024-06-22") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index efc6000b..73ebe658 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-06-18") +Annotation(owl:versionInfo "2024-06-22") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index 985e33e3..c77c35e2 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -7,8 +7,8 @@ * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 22 * Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 34 * Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 34 - * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 1956 - * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1554 + * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 1955 + * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1553 * Number of mappings in [`unmapped_icd10cm_mondo`](mondo-only/unmapped_icd10cm_mondo.tsv): 3 * Number of mappings in [`unmapped_icd10cm_mondo_exact`](mondo-only/unmapped_icd10cm_mondo.tsv): 3 * Number of mappings in [`unmapped_icd10who_lex`](unmapped_icd10who_lex.tsv): 1224 @@ -32,26 +32,24 @@ * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 880 * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 880 ## mondo_XXXXmatch_ontology - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 145 * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 75 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 145 * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 - * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 8826 - * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 3021 - * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 179 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 113 - * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 52 - * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1224 - * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 - * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 25 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 30 - * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 69 * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 206 + * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 69 * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 1 * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 2 + * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 + * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1224 + * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 25 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 30 + * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 879 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 113 * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 4 - * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1957 + * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 3021 + * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 8826 + * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 179 * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 5997 + * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1956 * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 58 * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 69 - * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 879 - * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 3 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv index 0fd8859a..1fb2eeff 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv @@ -1,35 +1,35 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0000275 obsolete monogenic disease DOID:0050177 MONDO:equivalentTo monogenic disease semapv:UnspecifiedMatching -MONDO:0000601 obsolete autoimmune disorder of urogenital tract DOID:0060049 MONDO:equivalentTo autoimmune disease of urogenital tract semapv:UnspecifiedMatching -MONDO:0000651 obsolete thoracic disorder DOID:0060118 MONDO:equivalentTo thoracic disease semapv:UnspecifiedMatching -MONDO:0000742 obsolete persistent generalized lymphadenopathy DOID:0060314 MONDO:equivalentTo persistent generalized lymphadenopathy semapv:UnspecifiedMatching -MONDO:0000834 obsolete bone deterioration disease DOID:0080007 MONDO:equivalentTo bone deterioration disease semapv:UnspecifiedMatching -MONDO:0000839 obsolete congenital abnormality DOID:0080015 MONDO:equivalentTo physical disorder semapv:UnspecifiedMatching -MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 DOID:0080069 MONDO:equivalentTo Charcot-Marie-Tooth disease type 7 semapv:UnspecifiedMatching -MONDO:0001254 obsolete peripheral scars of retina DOID:11283 MONDO:equivalentTo peripheral scars of retina semapv:UnspecifiedMatching -MONDO:0001324 obsolete hyperandrogenism DOID:11613 MONDO:equivalentTo hyperandrogenism semapv:UnspecifiedMatching -MONDO:0001467 obsolete specific bursitis often of occupational origin DOID:12223 MONDO:equivalentTo specific bursitis often of occupational origin semapv:UnspecifiedMatching -MONDO:0001679 obsolete crater-like holes of optic disk DOID:13295 MONDO:equivalentTo crater-like holes of optic disc semapv:UnspecifiedMatching -MONDO:0001693 obsolete ego-dystonic sexual orientation DOID:13352 MONDO:equivalentTo ego-dystonic sexual orientation semapv:UnspecifiedMatching -MONDO:0002324 obsolete enamel erosion DOID:2497 MONDO:equivalentTo enamel erosion semapv:UnspecifiedMatching -MONDO:0002336 obsolete inflammatory and toxic neuropathy DOID:2537 MONDO:equivalentTo inflammatory and toxic neuropathy semapv:UnspecifiedMatching -MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor DOID:4148 MONDO:equivalentTo gastrointestinal neuroendocrine benign tumor semapv:UnspecifiedMatching -MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma DOID:4548 MONDO:equivalentTo extraskeletal mesenchymal chondrosarcoma semapv:UnspecifiedMatching -MONDO:0003456 obsolete bile duct mucinous cystic neoplasm DOID:5469 MONDO:equivalentTo biliary tract intraductal papillary mucinous neoplasm semapv:UnspecifiedMatching -MONDO:0003804 obsolete blood protein disease DOID:620 MONDO:equivalentTo blood protein disease semapv:UnspecifiedMatching -MONDO:0004167 obsolete lung clear cell carcinoma DOID:7267 MONDO:equivalentTo lung clear cell carcinoma semapv:UnspecifiedMatching -MONDO:0004268 obsolete subareolar duct papillomatosis DOID:7533 MONDO:equivalentTo subareolar duct papillomatosis semapv:UnspecifiedMatching -MONDO:0004391 obsolete adult extraosseous chondrosarcoma DOID:7902 MONDO:equivalentTo adult extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching -MONDO:0004398 mediastinal schwannoma DOID:7922 MONDO:equivalentTo obsolete benign mediastinal neurilemmoma semapv:UnspecifiedMatching -MONDO:0005128 obsolete sensory system disease DOID:0050155 MONDO:equivalentTo sensory system disease semapv:UnspecifiedMatching -MONDO:0005862 obsolete multiple chemical sensitivity DOID:4661 MONDO:equivalentTo multiple chemical sensitivity semapv:UnspecifiedMatching -MONDO:0012144 Waardenburg syndrome type 2D DOID:0110952 MONDO:equivalentTo obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching -MONDO:0017841 obsolete autoimmune disease with skin involvement DOID:0060039 MONDO:equivalentTo autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching -MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency DOID:0050594 MONDO:equivalentTo glycogen storage disease IX semapv:UnspecifiedMatching -MONDO:0021199 obsolete disease by anatomical system DOID:7 MONDO:equivalentTo disease of anatomical entity semapv:UnspecifiedMatching -MONDO:0021668 obsolete disorder involving pain DOID:0060164 MONDO:equivalentTo pain disorder semapv:UnspecifiedMatching -MONDO:0024657 obsolete macrocystic neurilemmoma DOID:3203 MONDO:equivalentTo macrocystic neurilemmoma semapv:UnspecifiedMatching -MONDO:0100140 obsolete mild COVID-19 infection DOID:0081014 MONDO:equivalentTo non-severe COVID-19 semapv:UnspecifiedMatching -MONDO:0100142 obsolete severe COVID-19 infection DOID:0081013 MONDO:equivalentTo severe COVID-19 semapv:UnspecifiedMatching -MONDO:0100143 obsolete critical COVID-19 infection DOID:0081012 MONDO:equivalentTo critical COVID-19 semapv:UnspecifiedMatching +MONDO:0000275 obsolete monogenic disease DOID:0050177 MONDO:equivalentTo monogenic disease semapv:UnspecifiedMatching 0.5 +MONDO:0000601 obsolete autoimmune disorder of urogenital tract DOID:0060049 MONDO:equivalentTo autoimmune disease of urogenital tract semapv:UnspecifiedMatching 0.5 +MONDO:0000651 obsolete thoracic disorder DOID:0060118 MONDO:equivalentTo thoracic disease semapv:UnspecifiedMatching 0.5 +MONDO:0000742 obsolete persistent generalized lymphadenopathy DOID:0060314 MONDO:equivalentTo persistent generalized lymphadenopathy semapv:UnspecifiedMatching 0.5 +MONDO:0000834 obsolete bone deterioration disease DOID:0080007 MONDO:equivalentTo bone deterioration disease semapv:UnspecifiedMatching 0.5 +MONDO:0000839 obsolete congenital abnormality DOID:0080015 MONDO:equivalentTo physical disorder semapv:UnspecifiedMatching 0.5 +MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 DOID:0080069 MONDO:equivalentTo Charcot-Marie-Tooth disease type 7 semapv:UnspecifiedMatching 0.5 +MONDO:0001254 obsolete peripheral scars of retina DOID:11283 MONDO:equivalentTo peripheral scars of retina semapv:UnspecifiedMatching 0.5 +MONDO:0001324 obsolete hyperandrogenism DOID:11613 MONDO:equivalentTo hyperandrogenism semapv:UnspecifiedMatching 0.5 +MONDO:0001467 obsolete specific bursitis often of occupational origin DOID:12223 MONDO:equivalentTo specific bursitis often of occupational origin semapv:UnspecifiedMatching 0.5 +MONDO:0001679 obsolete crater-like holes of optic disk DOID:13295 MONDO:equivalentTo crater-like holes of optic disc semapv:UnspecifiedMatching 0.5 +MONDO:0001693 obsolete ego-dystonic sexual orientation DOID:13352 MONDO:equivalentTo ego-dystonic sexual orientation semapv:UnspecifiedMatching 0.5 +MONDO:0002324 obsolete enamel erosion DOID:2497 MONDO:equivalentTo enamel erosion semapv:UnspecifiedMatching 0.5 +MONDO:0002336 obsolete inflammatory and toxic neuropathy DOID:2537 MONDO:equivalentTo inflammatory and toxic neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor DOID:4148 MONDO:equivalentTo gastrointestinal neuroendocrine benign tumor semapv:UnspecifiedMatching 0.5 +MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma DOID:4548 MONDO:equivalentTo extraskeletal mesenchymal chondrosarcoma semapv:UnspecifiedMatching 0.5 +MONDO:0003456 obsolete bile duct mucinous cystic neoplasm DOID:5469 MONDO:equivalentTo biliary tract intraductal papillary mucinous neoplasm semapv:UnspecifiedMatching 0.5 +MONDO:0003804 obsolete blood protein disease DOID:620 MONDO:equivalentTo blood protein disease semapv:UnspecifiedMatching 0.5 +MONDO:0004167 obsolete lung clear cell carcinoma DOID:7267 MONDO:equivalentTo lung clear cell carcinoma semapv:UnspecifiedMatching 0.5 +MONDO:0004268 obsolete subareolar duct papillomatosis DOID:7533 MONDO:equivalentTo subareolar duct papillomatosis semapv:UnspecifiedMatching 0.5 +MONDO:0004391 obsolete adult extraosseous chondrosarcoma DOID:7902 MONDO:equivalentTo adult extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching 0.5 +MONDO:0004398 mediastinal schwannoma DOID:7922 MONDO:equivalentTo obsolete benign mediastinal neurilemmoma semapv:UnspecifiedMatching 0.5 +MONDO:0005128 obsolete sensory system disease DOID:0050155 MONDO:equivalentTo sensory system disease semapv:UnspecifiedMatching 0.5 +MONDO:0005862 obsolete multiple chemical sensitivity DOID:4661 MONDO:equivalentTo multiple chemical sensitivity semapv:UnspecifiedMatching 0.5 +MONDO:0012144 Waardenburg syndrome type 2D DOID:0110952 MONDO:equivalentTo obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching 0.5 +MONDO:0017841 obsolete autoimmune disease with skin involvement DOID:0060039 MONDO:equivalentTo autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching 0.5 +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency DOID:0050594 MONDO:equivalentTo glycogen storage disease IX semapv:UnspecifiedMatching 0.5 +MONDO:0021199 obsolete disease by anatomical system DOID:7 MONDO:equivalentTo disease of anatomical entity semapv:UnspecifiedMatching 0.5 +MONDO:0021668 obsolete disorder involving pain DOID:0060164 MONDO:equivalentTo pain disorder semapv:UnspecifiedMatching 0.5 +MONDO:0024657 obsolete macrocystic neurilemmoma DOID:3203 MONDO:equivalentTo macrocystic neurilemmoma semapv:UnspecifiedMatching 0.5 +MONDO:0100140 obsolete mild COVID-19 infection DOID:0081014 MONDO:equivalentTo non-severe COVID-19 semapv:UnspecifiedMatching 0.5 +MONDO:0100142 obsolete severe COVID-19 infection DOID:0081013 MONDO:equivalentTo severe COVID-19 semapv:UnspecifiedMatching 0.5 +MONDO:0100143 obsolete critical COVID-19 infection DOID:0081012 MONDO:equivalentTo critical COVID-19 semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_icd10cm_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_icd10cm_mondo.tsv index 477399e4..19b64e13 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_icd10cm_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_icd10cm_mondo.tsv @@ -1,4 +1,4 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0017495 obsolete congenital absence of upper arm and forearm with hand present, bilateral ICD10CM:Q71.13 MONDO:equivalentTo Congenital absence of upper arm and forearm with hand present, bilateral semapv:UnspecifiedMatching -MONDO:0024297 obsolete nutritional or metabolic disease ICD10CM:E00-E90 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0017495 obsolete congenital absence of upper arm and forearm with hand present, bilateral ICD10CM:Q71.13 MONDO:equivalentTo Congenital absence of upper arm and forearm with hand present, bilateral semapv:UnspecifiedMatching 0.5 +MONDO:0024297 obsolete nutritional or metabolic disease ICD10CM:E00-E90 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_icd10who_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_icd10who_mondo.tsv index 2ddb7e44..e3aaa65c 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_icd10who_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_icd10who_mondo.tsv @@ -1,3 +1,3 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0001946 obsolete hyperestrogenism ICD10WHO:E28.0 MONDO:equivalentTo Ovarian dysfunction: Estrogen excess semapv:UnspecifiedMatching +MONDO:0001946 obsolete hyperestrogenism ICD10WHO:E28.0 MONDO:equivalentTo Ovarian dysfunction: Estrogen excess semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv index 1de0cd54..17288e6f 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv @@ -1,27 +1,27 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0000651 obsolete thoracic disorder NCIT:C35742 MONDO:equivalentTo Thoracic Disorder semapv:UnspecifiedMatching -MONDO:0002063 obsolete breast papillomatosis NCIT:C6977 MONDO:equivalentTo Breast Papillomatosis semapv:UnspecifiedMatching -MONDO:0002938 metatypical basal cell carcinoma NCIT:C66903 MONDO:equivalentTo Skin Metatypical Carcinoma semapv:UnspecifiedMatching -MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma NCIT:C27481 MONDO:equivalentTo Mesenchymal Extraskeletal Chondrosarcoma semapv:UnspecifiedMatching -MONDO:0003450 eccrine papillary adenoma NCIT:C4173 MONDO:equivalentTo Papillary Eccrine Adenoma semapv:UnspecifiedMatching -MONDO:0003998 obsolete vaginal tubular adenoma NCIT:C40257 MONDO:equivalentTo Vaginal Tubular Adenoma semapv:UnspecifiedMatching -MONDO:0004204 squamous cell skin papilloma NCIT:C4462 MONDO:equivalentTo Skin Squamous Papilloma semapv:UnspecifiedMatching -MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma NCIT:C39822 MONDO:equivalentTo Infiltrating Bladder Urothelial Carcinoma, Lymphoma-Like Variant semapv:UnspecifiedMatching -MONDO:0004819 indolent plasma cell myeloma NCIT:C7150 MONDO:equivalentTo Indolent Multiple Myeloma semapv:UnspecifiedMatching -MONDO:0005362 erectile dysfunction NCIT:C34801 MONDO:equivalentTo Male Erectile Disorder semapv:UnspecifiedMatching -MONDO:0006315 obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm NCIT:C37005 MONDO:equivalentTo Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm semapv:UnspecifiedMatching -MONDO:0006475 obsolete unclassified renal cell carcinoma NCIT:C27892 MONDO:equivalentTo Unclassified Renal Cell Carcinoma semapv:UnspecifiedMatching -MONDO:0013171 purine nucleoside phosphorylase deficiency NCIT:C3963 MONDO:equivalentTo Purine-Nucleoside Phosphorylase Deficiency semapv:UnspecifiedMatching -MONDO:0016747 primary melanoma of the central nervous system NCIT:C5505 MONDO:equivalentTo Central Nervous System Melanoma semapv:UnspecifiedMatching -MONDO:0017308 obsolete Marfan syndrome type 2 NCIT:C75007 MONDO:equivalentTo Marfan Syndrome Type II semapv:UnspecifiedMatching -MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly NCIT:C7175 MONDO:equivalentTo Acute Myeloid Leukemia with Recurrent Genetic Abnormalities semapv:UnspecifiedMatching -MONDO:0020591 obsolete disorder of peritoneum NCIT:C26848 MONDO:equivalentTo Peritoneal Disorder semapv:UnspecifiedMatching -MONDO:0020595 obsolete disorder of retroperitoneum NCIT:C27667 MONDO:equivalentTo Retroperitoneal Disorder semapv:UnspecifiedMatching -MONDO:0020804 basal cell carcinoma NCIT:C7586 MONDO:equivalentTo Malignant Basal Cell Neoplasm semapv:UnspecifiedMatching -MONDO:0020842 obsolete medullary carcinoma NCIT:C8998 MONDO:equivalentTo Medullary Carcinoma semapv:UnspecifiedMatching -MONDO:0021059 obsolete head or neck disorder/disorder NCIT:C27571 MONDO:equivalentTo Head and Neck Disorder semapv:UnspecifiedMatching -MONDO:0021200 obsolete rare disease NCIT:C4873 MONDO:equivalentTo Rare Disorder semapv:UnspecifiedMatching -MONDO:0036491 obsolete rare childhood malignant neoplasm NCIT:C114451 MONDO:equivalentTo Rare Childhood Malignant Neoplasm semapv:UnspecifiedMatching -MONDO:0043881 obsolete acute eosinophilic leukemia NCIT:C26813 MONDO:equivalentTo Acute Eosinophilic Leukemia semapv:UnspecifiedMatching -MONDO:0700092 neurodevelopmental disorder NCIT:C1535926 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0000651 obsolete thoracic disorder NCIT:C35742 MONDO:equivalentTo Thoracic Disorder semapv:UnspecifiedMatching 0.5 +MONDO:0002063 obsolete breast papillomatosis NCIT:C6977 MONDO:equivalentTo Breast Papillomatosis semapv:UnspecifiedMatching 0.5 +MONDO:0002938 metatypical basal cell carcinoma NCIT:C66903 MONDO:equivalentTo Skin Metatypical Carcinoma semapv:UnspecifiedMatching 0.5 +MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma NCIT:C27481 MONDO:equivalentTo Mesenchymal Extraskeletal Chondrosarcoma semapv:UnspecifiedMatching 0.5 +MONDO:0003450 eccrine papillary adenoma NCIT:C4173 MONDO:equivalentTo Papillary Eccrine Adenoma semapv:UnspecifiedMatching 0.5 +MONDO:0003998 obsolete vaginal tubular adenoma NCIT:C40257 MONDO:equivalentTo Vaginal Tubular Adenoma semapv:UnspecifiedMatching 0.5 +MONDO:0004204 squamous cell skin papilloma NCIT:C4462 MONDO:equivalentTo Skin Squamous Papilloma semapv:UnspecifiedMatching 0.5 +MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma NCIT:C39822 MONDO:equivalentTo Infiltrating Bladder Urothelial Carcinoma, Lymphoma-Like Variant semapv:UnspecifiedMatching 0.5 +MONDO:0004819 indolent plasma cell myeloma NCIT:C7150 MONDO:equivalentTo Indolent Multiple Myeloma semapv:UnspecifiedMatching 0.5 +MONDO:0005362 erectile dysfunction NCIT:C34801 MONDO:equivalentTo Male Erectile Disorder semapv:UnspecifiedMatching 0.5 +MONDO:0006315 obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm NCIT:C37005 MONDO:equivalentTo Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm semapv:UnspecifiedMatching 0.5 +MONDO:0006475 obsolete unclassified renal cell carcinoma NCIT:C27892 MONDO:equivalentTo Unclassified Renal Cell Carcinoma semapv:UnspecifiedMatching 0.5 +MONDO:0013171 purine nucleoside phosphorylase deficiency NCIT:C3963 MONDO:equivalentTo Purine-Nucleoside Phosphorylase Deficiency semapv:UnspecifiedMatching 0.5 +MONDO:0016747 primary melanoma of the central nervous system NCIT:C5505 MONDO:equivalentTo Central Nervous System Melanoma semapv:UnspecifiedMatching 0.5 +MONDO:0017308 obsolete Marfan syndrome type 2 NCIT:C75007 MONDO:equivalentTo Marfan Syndrome Type II semapv:UnspecifiedMatching 0.5 +MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly NCIT:C7175 MONDO:equivalentTo Acute Myeloid Leukemia with Recurrent Genetic Abnormalities semapv:UnspecifiedMatching 0.5 +MONDO:0020591 obsolete disorder of peritoneum NCIT:C26848 MONDO:equivalentTo Peritoneal Disorder semapv:UnspecifiedMatching 0.5 +MONDO:0020595 obsolete disorder of retroperitoneum NCIT:C27667 MONDO:equivalentTo Retroperitoneal Disorder semapv:UnspecifiedMatching 0.5 +MONDO:0020804 basal cell carcinoma NCIT:C7586 MONDO:equivalentTo Malignant Basal Cell Neoplasm semapv:UnspecifiedMatching 0.5 +MONDO:0020842 obsolete medullary carcinoma NCIT:C8998 MONDO:equivalentTo Medullary Carcinoma semapv:UnspecifiedMatching 0.5 +MONDO:0021059 obsolete head or neck disorder/disorder NCIT:C27571 MONDO:equivalentTo Head and Neck Disorder semapv:UnspecifiedMatching 0.5 +MONDO:0021200 obsolete rare disease NCIT:C4873 MONDO:equivalentTo Rare Disorder semapv:UnspecifiedMatching 0.5 +MONDO:0036491 obsolete rare childhood malignant neoplasm NCIT:C114451 MONDO:equivalentTo Rare Childhood Malignant Neoplasm semapv:UnspecifiedMatching 0.5 +MONDO:0043881 obsolete acute eosinophilic leukemia NCIT:C26813 MONDO:equivalentTo Acute Eosinophilic Leukemia semapv:UnspecifiedMatching 0.5 +MONDO:0700092 neurodevelopmental disorder NCIT:C1535926 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo_exact.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo_exact.tsv index d01d35d3..68b9d7e2 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo_exact.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo_exact.tsv @@ -1,10 +1,10 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0003222 central nervous system melanocytic neoplasm NCIT:C5504 MONDO:equivalentTo Central Nervous System Melanocytic Neoplasm semapv:UnspecifiedMatching -MONDO:0004141 melanomatosis NCIT:C9499 MONDO:equivalentTo Melanomatosis semapv:UnspecifiedMatching -MONDO:0005065 mesothelioma NCIT:C3234 MONDO:equivalentTo Mesothelioma semapv:UnspecifiedMatching -MONDO:0005104 aJCC grade 1 sarcoma NCIT:C9419 MONDO:equivalentTo AJCC Grade 1 Sarcoma semapv:UnspecifiedMatching -MONDO:0005369 carcinoid tumor NCIT:C2915 MONDO:equivalentTo Carcinoid Tumor semapv:UnspecifiedMatching -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 NCIT:C7167 MONDO:equivalentTo Myelodysplastic Syndrome with Excess Blasts-1 semapv:UnspecifiedMatching -MONDO:0015540 hemophagocytic syndrome NCIT:C35439 MONDO:equivalentTo Hemophagocytic Syndrome semapv:UnspecifiedMatching -MONDO:0020805 benign basal cell neoplasm NCIT:C4743 MONDO:equivalentTo Benign Basal Cell Neoplasm semapv:UnspecifiedMatching +MONDO:0003222 central nervous system melanocytic neoplasm NCIT:C5504 MONDO:equivalentTo Central Nervous System Melanocytic Neoplasm semapv:UnspecifiedMatching 0.5 +MONDO:0004141 melanomatosis NCIT:C9499 MONDO:equivalentTo Melanomatosis semapv:UnspecifiedMatching 0.5 +MONDO:0005065 mesothelioma NCIT:C3234 MONDO:equivalentTo Mesothelioma semapv:UnspecifiedMatching 0.5 +MONDO:0005104 aJCC grade 1 sarcoma NCIT:C9419 MONDO:equivalentTo AJCC Grade 1 Sarcoma semapv:UnspecifiedMatching 0.5 +MONDO:0005369 carcinoid tumor NCIT:C2915 MONDO:equivalentTo Carcinoid Tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015040 myelodysplastic syndrome with excess blasts-1 NCIT:C7167 MONDO:equivalentTo Myelodysplastic Syndrome with Excess Blasts-1 semapv:UnspecifiedMatching 0.5 +MONDO:0015540 hemophagocytic syndrome NCIT:C35439 MONDO:equivalentTo Hemophagocytic Syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0020805 benign basal cell neoplasm NCIT:C4743 MONDO:equivalentTo Benign Basal Cell Neoplasm semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index ea54dd62..30491cb7 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -1,119 +1,119 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated OMIMPS:610799 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0000218 obsolete preimplantation embryonic lethality OMIMPS:616814 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0000911 obsolete dilated cardiomyopathy 1T OMIM:613740 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0007061 obsolete acylase, cobalt-activated OMIM:102590 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0007139 obsolete Antipyrine metabolism OMIM:107290 MONDO:equivalentTo antipyrine metabolism semapv:UnspecifiedMatching -MONDO:0007331 obsolete cleft chin OMIM:119000 MONDO:equivalentTo cleft chin semapv:UnspecifiedMatching -MONDO:0007347 obsolete Coxsackievirus B3 susceptibility OMIM:120050 MONDO:equivalentTo coxsackievirus b3 susceptibility semapv:UnspecifiedMatching -MONDO:0007348 obsolete colchicine resistance OMIM:120080 MONDO:equivalentTo colchicine resistance semapv:UnspecifiedMatching -MONDO:0007386 obsolete human coronavirus sensitivity OMIM:122460 MONDO:equivalentTo human coronavirus sensitivity semapv:UnspecifiedMatching -MONDO:0007506 obsoleted echo virus 11 sensitivity OMIM:129150 MONDO:equivalentTo echo virus 11 sensitivity semapv:UnspecifiedMatching -MONDO:0007602 obsolete favism, susceptibility to OMIM:134700 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) OMIM:136580 MONDO:equivalentTo fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching -MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia OMIM:137560 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome OMIM:145410 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0007801 obsolete hypoplasia of teeth roots OMIM:146400 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0008074 obsolete nerve growth factor, alpha subunit OMIM:162020 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0008091 obsolete abnormal neutrophil chemotactic response OMIM:162820 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0008126 obsolete oncogene Yuasa OMIM:164891 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis OMIM:168850 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0008415 obsolete Scholte syndrome OMIM:181515 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0008548 obsolete theophylline Biotransformation OMIM:187650 MONDO:equivalentTo theophylline biotransformation semapv:UnspecifiedMatching -MONDO:0008625 obsolete urate-binding globulin, decrease 1N OMIM:191530 MONDO:equivalentTo urate-binding globulin, decrease 1n semapv:UnspecifiedMatching -MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 OMIM:210730 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes OMIM:242870 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0009535 obsolete lymphedema, congenital recessive OMIM:247440 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0009553 obsolete Plasmodium falciparum blood infection level OMIM:248310 MONDO:equivalentTo plasmodium falciparum blood infection level semapv:UnspecifiedMatching -MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types OMIM:252700 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0009941 obsolete Pygmy OMIM:265850 MONDO:equivalentTo pygmy semapv:UnspecifiedMatching -MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome OMIM:270710 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency OMIM:300274 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010346 obsolete MRX52 OMIM:300504 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010357 obsolete MRX78 OMIM:300551 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 OMIM:300640 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome OMIM:300660 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010470 obsolete Baratela-Scott syndrome OMIM:300881 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome OMIM:301590 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010601 obsolete gynecomastia, familial OMIM:306500 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010666 obsolete Miles-Carpenter syndrome OMIM:309605 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010804 obsolete BRCATA OMIM:600048 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010859 obsolete atrioventricular septal defect 3 OMIM:600309 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0011111 obsolete horns in sheep OMIM:601563 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0011543 obsolete BRCA3 OMIM:605365 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 OMIM:605429 MONDO:equivalentTo deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching -MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration OMIM:607236 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0011809 obsolete mammographic density OMIM:607308 MONDO:equivalentTo mammographic density semapv:UnspecifiedMatching -MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C OMIM:607801 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0012140 obsolete pulmonary function OMIM:608852 MONDO:equivalentTo pulmonary function semapv:UnspecifiedMatching -MONDO:0012144 Waardenburg syndrome type 2D OMIM:608890 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related OMIM:608902 MONDO:equivalentTo drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching -MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related OMIM:609535 MONDO:equivalentTo drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching -MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 OMIM:610269 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0012501 obsolete mutagen sensitivity OMIM:610452 MONDO:equivalentTo mutagen sensitivity semapv:UnspecifiedMatching -MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 OMIM:610799 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 OMIM:611384 MONDO:equivalentTo plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching -MONDO:0013001 obsolete synesthesia OMIM:612759 MONDO:equivalentTo synesthesia semapv:UnspecifiedMatching -MONDO:0013586 obsolete Chitotriosidase deficiency OMIM:614122 MONDO:equivalentTo chitotriosidase deficiency semapv:UnspecifiedMatching -MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 OMIM:614157 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome OMIM:614192 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0013701 obsolete MRT32 OMIM:614339 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0013733 obsolete accelerated tumor formation, susceptibility to OMIM:614401 MONDO:equivalentTo accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching -MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of OMIM:615121 MONDO:equivalentTo stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching -MONDO:0014330 obsolete eculizumab, poor response to OMIM:615749 MONDO:equivalentTo eculizumab, poor response to semapv:UnspecifiedMatching -MONDO:0014763 obsolete Bombay phenotype OMIM:616754 MONDO:equivalentTo bombay phenotype semapv:UnspecifiedMatching -MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency OMIM:616903 MONDO:equivalentTo thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching -MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 OMIM:616958 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0014978 obsolete preimplantation embryonic lethality 2 OMIM:617234 MONDO:equivalentTo oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching -MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency OMIM:615057 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss OMIM:103470 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia OMIM:300537 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0020609 obsolete blood group, colton system OMIM:110450 MONDO:equivalentTo blood group, colton system semapv:UnspecifiedMatching -MONDO:0020612 obsolete blood group, kidd system OMIM:111000 MONDO:equivalentTo blood group, kidd system semapv:UnspecifiedMatching -MONDO:0020613 obsolete blood group--lke OMIM:111130 MONDO:equivalentTo blood group--lke semapv:UnspecifiedMatching -MONDO:0020614 obsolete blood group--lutheran system OMIM:111200 MONDO:equivalentTo blood group--lutheran system semapv:UnspecifiedMatching -MONDO:0020615 obsolete blood group system, landsteiner-wiener OMIM:111250 MONDO:equivalentTo blood group system, landsteiner-wiener semapv:UnspecifiedMatching -MONDO:0020616 obsolete blood group, mn OMIM:111300 MONDO:equivalentTo blood group, mn semapv:UnspecifiedMatching -MONDO:0020617 obsolete blood group--ok OMIM:111380 MONDO:equivalentTo blood group--ok semapv:UnspecifiedMatching -MONDO:0020618 obsolete blood group--private systems OMIM:111500 MONDO:equivalentTo blood group--private systems semapv:UnspecifiedMatching -MONDO:0020619 obsolete blood group, langereis system OMIM:111600 MONDO:equivalentTo blood group, langereis system semapv:UnspecifiedMatching -MONDO:0020621 obsolete blood group--scianna system OMIM:111750 MONDO:equivalentTo blood group--scianna system semapv:UnspecifiedMatching -MONDO:0020626 obsolete yt blood group antigen OMIM:112100 MONDO:equivalentTo yt blood group antigen semapv:UnspecifiedMatching -MONDO:0020668 obsolete spastic paraplegia 5B OMIM:600146 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome OMIM:163955 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 OMIM:175020 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0024996 obsolete Usher syndrome, type 2b OMIM:276905 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0027416 obsolete retinal cone dystrophy 2 OMIM:601251 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in OMIMPS:227220 MONDO:equivalentTo Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching -MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 OMIM:618979 MONDO:equivalentTo high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching -MONDO:0044217 obsolete asparagus, specific smell hypersensitivity OMIM:108390 MONDO:equivalentTo asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching -MONDO:0044220 obsolete blood group, 1 system OMIM:110800 MONDO:equivalentTo blood group, 1 system semapv:UnspecifiedMatching -MONDO:0044221 obsolete blood group--lutheran inhibitor OMIM:111150 MONDO:equivalentTo blood group--lutheran inhibitor semapv:UnspecifiedMatching -MONDO:0044222 obsolete blood group, p1pk system OMIM:111400 MONDO:equivalentTo blood group, p1pk system semapv:UnspecifiedMatching -MONDO:0044224 obsolete apocrine gland secretion, variation 1n OMIM:117800 MONDO:equivalentTo apocrine gland secretion, variation 1n semapv:UnspecifiedMatching -MONDO:0044228 obsolete eegbqtl OMIM:130190 MONDO:equivalentTo electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching -MONDO:0044234 obsolete hrm2 OMIM:139450 MONDO:equivalentTo hair morphology 2 semapv:UnspecifiedMatching -MONDO:0044235 obsolete hsr OMIM:139900 MONDO:equivalentTo hand skill, relative semapv:UnspecifiedMatching -MONDO:0044236 obsolete hepatitis b vaccine, response to OMIM:142395 MONDO:equivalentTo hepatitis B vaccine, response to semapv:UnspecifiedMatching -MONDO:0044240 obsolete musical perfect pitch OMIM:159300 MONDO:equivalentTo musical perfect pitch semapv:UnspecifiedMatching -MONDO:0044246 obsolete nystagmus, voluntary OMIM:164170 MONDO:equivalentTo nystagmus, voluntary semapv:UnspecifiedMatching -MONDO:0044248 obsolete thiourea tasting OMIM:171200 MONDO:equivalentTo thiourea tasting semapv:UnspecifiedMatching -MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 OMIM:171720 MONDO:equivalentTo alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:UnspecifiedMatching -MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 OMIM:210750 MONDO:equivalentTo skin/hair/eye pigmentation, variation in, 6 semapv:UnspecifiedMatching -MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 OMIM:227220 MONDO:equivalentTo skin/hair/eye pigmentation, variation in, 1 semapv:UnspecifiedMatching -MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 OMIM:227240 MONDO:equivalentTo skin/hair/eye pigmentation, variation in, 5 semapv:UnspecifiedMatching -MONDO:0044257 obsolete lutheran null OMIM:247420 MONDO:equivalentTo lutheran null semapv:UnspecifiedMatching -MONDO:0044261 obsolete menoq1 OMIM:300488 MONDO:equivalentTo menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching -MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 OMIM:601816 MONDO:equivalentTo bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching -MONDO:0044273 obsolete hypertension, diastolic, resistance to OMIM:608622 MONDO:equivalentTo hypertension, diastolic, resistance to semapv:UnspecifiedMatching -MONDO:0044274 obsolete hemoglobin, high altitude adaptation OMIM:609070 MONDO:equivalentTo hemoglobin, high altitude adaptation semapv:UnspecifiedMatching -MONDO:0044275 obsolete carotid intimal medial thickness 1 OMIM:609338 MONDO:equivalentTo carotid intimal medial thickness 1 semapv:UnspecifiedMatching -MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 OMIM:612271 MONDO:equivalentTo skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching -MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 OMIM:612671 MONDO:equivalentTo uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching -MONDO:0044278 obsolete short sleeper OMIMPS:612975 MONDO:equivalentTo Short sleep, familial natural semapv:UnspecifiedMatching -MONDO:0044280 obsolete glycerol quantitative trait locus OMIM:614411 MONDO:equivalentTo glycerol quantitative trait locus semapv:UnspecifiedMatching -MONDO:0044281 obsolete c3hex, ability to smell OMIM:615082 MONDO:equivalentTo c3hex, ability to smell semapv:UnspecifiedMatching -MONDO:0044282 obsolete blood group, vel system OMIM:615264 MONDO:equivalentTo blood group, vel system semapv:UnspecifiedMatching -MONDO:0060593 obsolete actn3 deficiency OMIM:617749 MONDO:equivalentTo actn3 deficiency semapv:UnspecifiedMatching -MONDO:0200001 obsolete chromate resistance OMIM:118840 MONDO:equivalentTo chromate resistance semapv:UnspecifiedMatching +MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated OMIMPS:610799 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0000218 obsolete preimplantation embryonic lethality OMIMPS:616814 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0000911 obsolete dilated cardiomyopathy 1T OMIM:613740 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0007061 obsolete acylase, cobalt-activated OMIM:102590 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0007139 obsolete Antipyrine metabolism OMIM:107290 MONDO:equivalentTo antipyrine metabolism semapv:UnspecifiedMatching 0.5 +MONDO:0007331 obsolete cleft chin OMIM:119000 MONDO:equivalentTo cleft chin semapv:UnspecifiedMatching 0.5 +MONDO:0007347 obsolete Coxsackievirus B3 susceptibility OMIM:120050 MONDO:equivalentTo coxsackievirus b3 susceptibility semapv:UnspecifiedMatching 0.5 +MONDO:0007348 obsolete colchicine resistance OMIM:120080 MONDO:equivalentTo colchicine resistance semapv:UnspecifiedMatching 0.5 +MONDO:0007386 obsolete human coronavirus sensitivity OMIM:122460 MONDO:equivalentTo human coronavirus sensitivity semapv:UnspecifiedMatching 0.5 +MONDO:0007506 obsoleted echo virus 11 sensitivity OMIM:129150 MONDO:equivalentTo echo virus 11 sensitivity semapv:UnspecifiedMatching 0.5 +MONDO:0007602 obsolete favism, susceptibility to OMIM:134700 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) OMIM:136580 MONDO:equivalentTo fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching 0.5 +MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia OMIM:137560 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome OMIM:145410 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0007801 obsolete hypoplasia of teeth roots OMIM:146400 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0008074 obsolete nerve growth factor, alpha subunit OMIM:162020 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0008091 obsolete abnormal neutrophil chemotactic response OMIM:162820 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0008126 obsolete oncogene Yuasa OMIM:164891 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis OMIM:168850 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0008415 obsolete Scholte syndrome OMIM:181515 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0008548 obsolete theophylline Biotransformation OMIM:187650 MONDO:equivalentTo theophylline biotransformation semapv:UnspecifiedMatching 0.5 +MONDO:0008625 obsolete urate-binding globulin, decrease 1N OMIM:191530 MONDO:equivalentTo urate-binding globulin, decrease 1n semapv:UnspecifiedMatching 0.5 +MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 OMIM:210730 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes OMIM:242870 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0009535 obsolete lymphedema, congenital recessive OMIM:247440 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0009553 obsolete Plasmodium falciparum blood infection level OMIM:248310 MONDO:equivalentTo plasmodium falciparum blood infection level semapv:UnspecifiedMatching 0.5 +MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types OMIM:252700 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0009941 obsolete Pygmy OMIM:265850 MONDO:equivalentTo pygmy semapv:UnspecifiedMatching 0.5 +MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome OMIM:270710 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency OMIM:300274 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0010346 obsolete MRX52 OMIM:300504 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0010357 obsolete MRX78 OMIM:300551 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 OMIM:300640 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome OMIM:300660 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0010470 obsolete Baratela-Scott syndrome OMIM:300881 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome OMIM:301590 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0010601 obsolete gynecomastia, familial OMIM:306500 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0010666 obsolete Miles-Carpenter syndrome OMIM:309605 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0010804 obsolete BRCATA OMIM:600048 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0010859 obsolete atrioventricular septal defect 3 OMIM:600309 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0011111 obsolete horns in sheep OMIM:601563 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0011543 obsolete BRCA3 OMIM:605365 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 OMIM:605429 MONDO:equivalentTo deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching 0.5 +MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration OMIM:607236 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0011809 obsolete mammographic density OMIM:607308 MONDO:equivalentTo mammographic density semapv:UnspecifiedMatching 0.5 +MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C OMIM:607801 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0012140 obsolete pulmonary function OMIM:608852 MONDO:equivalentTo pulmonary function semapv:UnspecifiedMatching 0.5 +MONDO:0012144 Waardenburg syndrome type 2D OMIM:608890 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related OMIM:608902 MONDO:equivalentTo drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching 0.5 +MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related OMIM:609535 MONDO:equivalentTo drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching 0.5 +MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 OMIM:610269 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0012501 obsolete mutagen sensitivity OMIM:610452 MONDO:equivalentTo mutagen sensitivity semapv:UnspecifiedMatching 0.5 +MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 OMIM:610799 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 OMIM:611384 MONDO:equivalentTo plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 +MONDO:0013001 obsolete synesthesia OMIM:612759 MONDO:equivalentTo synesthesia semapv:UnspecifiedMatching 0.5 +MONDO:0013586 obsolete Chitotriosidase deficiency OMIM:614122 MONDO:equivalentTo chitotriosidase deficiency semapv:UnspecifiedMatching 0.5 +MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 OMIM:614157 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome OMIM:614192 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0013701 obsolete MRT32 OMIM:614339 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0013733 obsolete accelerated tumor formation, susceptibility to OMIM:614401 MONDO:equivalentTo accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching 0.5 +MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of OMIM:615121 MONDO:equivalentTo stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching 0.5 +MONDO:0014330 obsolete eculizumab, poor response to OMIM:615749 MONDO:equivalentTo eculizumab, poor response to semapv:UnspecifiedMatching 0.5 +MONDO:0014763 obsolete Bombay phenotype OMIM:616754 MONDO:equivalentTo bombay phenotype semapv:UnspecifiedMatching 0.5 +MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency OMIM:616903 MONDO:equivalentTo thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching 0.5 +MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 OMIM:616958 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0014978 obsolete preimplantation embryonic lethality 2 OMIM:617234 MONDO:equivalentTo oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching 0.5 +MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency OMIM:615057 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss OMIM:103470 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia OMIM:300537 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0020609 obsolete blood group, colton system OMIM:110450 MONDO:equivalentTo blood group, colton system semapv:UnspecifiedMatching 0.5 +MONDO:0020612 obsolete blood group, kidd system OMIM:111000 MONDO:equivalentTo blood group, kidd system semapv:UnspecifiedMatching 0.5 +MONDO:0020613 obsolete blood group--lke OMIM:111130 MONDO:equivalentTo blood group--lke semapv:UnspecifiedMatching 0.5 +MONDO:0020614 obsolete blood group--lutheran system OMIM:111200 MONDO:equivalentTo blood group--lutheran system semapv:UnspecifiedMatching 0.5 +MONDO:0020615 obsolete blood group system, landsteiner-wiener OMIM:111250 MONDO:equivalentTo blood group system, landsteiner-wiener semapv:UnspecifiedMatching 0.5 +MONDO:0020616 obsolete blood group, mn OMIM:111300 MONDO:equivalentTo blood group, mn semapv:UnspecifiedMatching 0.5 +MONDO:0020617 obsolete blood group--ok OMIM:111380 MONDO:equivalentTo blood group--ok semapv:UnspecifiedMatching 0.5 +MONDO:0020618 obsolete blood group--private systems OMIM:111500 MONDO:equivalentTo blood group--private systems semapv:UnspecifiedMatching 0.5 +MONDO:0020619 obsolete blood group, langereis system OMIM:111600 MONDO:equivalentTo blood group, langereis system semapv:UnspecifiedMatching 0.5 +MONDO:0020621 obsolete blood group--scianna system OMIM:111750 MONDO:equivalentTo blood group--scianna system semapv:UnspecifiedMatching 0.5 +MONDO:0020626 obsolete yt blood group antigen OMIM:112100 MONDO:equivalentTo yt blood group antigen semapv:UnspecifiedMatching 0.5 +MONDO:0020668 obsolete spastic paraplegia 5B OMIM:600146 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome OMIM:163955 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 OMIM:175020 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0024996 obsolete Usher syndrome, type 2b OMIM:276905 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0027416 obsolete retinal cone dystrophy 2 OMIM:601251 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in OMIMPS:227220 MONDO:equivalentTo Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching 0.5 +MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 OMIM:618979 MONDO:equivalentTo high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching 0.5 +MONDO:0044217 obsolete asparagus, specific smell hypersensitivity OMIM:108390 MONDO:equivalentTo asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching 0.5 +MONDO:0044220 obsolete blood group, 1 system OMIM:110800 MONDO:equivalentTo blood group, 1 system semapv:UnspecifiedMatching 0.5 +MONDO:0044221 obsolete blood group--lutheran inhibitor OMIM:111150 MONDO:equivalentTo blood group--lutheran inhibitor semapv:UnspecifiedMatching 0.5 +MONDO:0044222 obsolete blood group, p1pk system OMIM:111400 MONDO:equivalentTo blood group, p1pk system semapv:UnspecifiedMatching 0.5 +MONDO:0044224 obsolete apocrine gland secretion, variation 1n OMIM:117800 MONDO:equivalentTo apocrine gland secretion, variation 1n semapv:UnspecifiedMatching 0.5 +MONDO:0044228 obsolete eegbqtl OMIM:130190 MONDO:equivalentTo electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching 0.5 +MONDO:0044234 obsolete hrm2 OMIM:139450 MONDO:equivalentTo hair morphology 2 semapv:UnspecifiedMatching 0.5 +MONDO:0044235 obsolete hsr OMIM:139900 MONDO:equivalentTo hand skill, relative semapv:UnspecifiedMatching 0.5 +MONDO:0044236 obsolete hepatitis b vaccine, response to OMIM:142395 MONDO:equivalentTo hepatitis B vaccine, response to semapv:UnspecifiedMatching 0.5 +MONDO:0044240 obsolete musical perfect pitch OMIM:159300 MONDO:equivalentTo musical perfect pitch semapv:UnspecifiedMatching 0.5 +MONDO:0044246 obsolete nystagmus, voluntary OMIM:164170 MONDO:equivalentTo nystagmus, voluntary semapv:UnspecifiedMatching 0.5 +MONDO:0044248 obsolete thiourea tasting OMIM:171200 MONDO:equivalentTo thiourea tasting semapv:UnspecifiedMatching 0.5 +MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 OMIM:171720 MONDO:equivalentTo alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 +MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 OMIM:210750 MONDO:equivalentTo skin/hair/eye pigmentation, variation in, 6 semapv:UnspecifiedMatching 0.5 +MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 OMIM:227220 MONDO:equivalentTo skin/hair/eye pigmentation, variation in, 1 semapv:UnspecifiedMatching 0.5 +MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 OMIM:227240 MONDO:equivalentTo skin/hair/eye pigmentation, variation in, 5 semapv:UnspecifiedMatching 0.5 +MONDO:0044257 obsolete lutheran null OMIM:247420 MONDO:equivalentTo lutheran null semapv:UnspecifiedMatching 0.5 +MONDO:0044261 obsolete menoq1 OMIM:300488 MONDO:equivalentTo menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 +MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 OMIM:601816 MONDO:equivalentTo bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 +MONDO:0044273 obsolete hypertension, diastolic, resistance to OMIM:608622 MONDO:equivalentTo hypertension, diastolic, resistance to semapv:UnspecifiedMatching 0.5 +MONDO:0044274 obsolete hemoglobin, high altitude adaptation OMIM:609070 MONDO:equivalentTo hemoglobin, high altitude adaptation semapv:UnspecifiedMatching 0.5 +MONDO:0044275 obsolete carotid intimal medial thickness 1 OMIM:609338 MONDO:equivalentTo carotid intimal medial thickness 1 semapv:UnspecifiedMatching 0.5 +MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 OMIM:612271 MONDO:equivalentTo skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching 0.5 +MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 OMIM:612671 MONDO:equivalentTo uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching 0.5 +MONDO:0044278 obsolete short sleeper OMIMPS:612975 MONDO:equivalentTo Short sleep, familial natural semapv:UnspecifiedMatching 0.5 +MONDO:0044280 obsolete glycerol quantitative trait locus OMIM:614411 MONDO:equivalentTo glycerol quantitative trait locus semapv:UnspecifiedMatching 0.5 +MONDO:0044281 obsolete c3hex, ability to smell OMIM:615082 MONDO:equivalentTo c3hex, ability to smell semapv:UnspecifiedMatching 0.5 +MONDO:0044282 obsolete blood group, vel system OMIM:615264 MONDO:equivalentTo blood group, vel system semapv:UnspecifiedMatching 0.5 +MONDO:0060593 obsolete actn3 deficiency OMIM:617749 MONDO:equivalentTo actn3 deficiency semapv:UnspecifiedMatching 0.5 +MONDO:0200001 obsolete chromate resistance OMIM:118840 MONDO:equivalentTo chromate resistance semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv index c22d7cb8..ecd510fe 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv @@ -1,881 +1,881 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0015076 obsolete rare parathyroid tumor Orphanet:100090 MONDO:equivalentTo Rare parathyroid tumor semapv:UnspecifiedMatching -MONDO:0015081 obsolete neuroendocrine tumor with other location Orphanet:100101 MONDO:equivalentTo Neuroendocrine tumor with other location semapv:UnspecifiedMatching -MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia Orphanet:100980 MONDO:equivalentTo Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching -MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia Orphanet:100981 MONDO:equivalentTo Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching -MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia Orphanet:100982 MONDO:equivalentTo Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching -MONDO:0015106 obsolete rare urogenital disease Orphanet:101433 MONDO:equivalentTo Rare urogenital disease semapv:UnspecifiedMatching -MONDO:0015107 obsolete rare genetic eye disease Orphanet:101435 MONDO:equivalentTo Rare genetic eye disease semapv:UnspecifiedMatching -MONDO:0015110 obsolete genetic cardiac rhythm disease Orphanet:101934 MONDO:equivalentTo Genetic cardiac rhythm disease semapv:UnspecifiedMatching -MONDO:0015111 obsolete gastroesophageal disease Orphanet:101936 MONDO:equivalentTo Rare gastroesophageal disease semapv:UnspecifiedMatching -MONDO:0015112 obsolete rare pancreatic disease Orphanet:101937 MONDO:equivalentTo Rare pancreatic disease semapv:UnspecifiedMatching -MONDO:0015113 obsolete rare vascular liver disease Orphanet:101938 MONDO:equivalentTo Rare vascular liver disease semapv:UnspecifiedMatching -MONDO:0015114 obsolete rare parenchymal liver disease Orphanet:101939 MONDO:equivalentTo Rare parenchymal liver disease semapv:UnspecifiedMatching -MONDO:0015115 obsolete rare genetic metabolic liver disease Orphanet:101940 MONDO:equivalentTo Rare metabolic liver disease semapv:UnspecifiedMatching -MONDO:0015116 obsolete rare biliary tract disease Orphanet:101941 MONDO:equivalentTo Rare biliary tract disease semapv:UnspecifiedMatching -MONDO:0015117 obsolete rare hepatic and biliary tract tumor Orphanet:101943 MONDO:equivalentTo Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching -MONDO:0015118 obsolete rare pulmonary disease Orphanet:101944 MONDO:equivalentTo Rare pulmonary disease semapv:UnspecifiedMatching -MONDO:0015119 obsolete bronchopulmonary tumor Orphanet:101945 MONDO:equivalentTo Rare bronchopulmonary tumor semapv:UnspecifiedMatching -MONDO:0015121 obsolete rare eye tumor Orphanet:101950 MONDO:equivalentTo Rare eye tumor semapv:UnspecifiedMatching -MONDO:0015122 obsolete rare diabetes mellitus Orphanet:101952 MONDO:equivalentTo Rare diabetes mellitus semapv:UnspecifiedMatching -MONDO:0015123 obsolete rare inherited dyslipidemia Orphanet:101953 MONDO:equivalentTo Rare dyslipidemia semapv:UnspecifiedMatching -MONDO:0015124 obsolete rare adrenal disease Orphanet:101954 MONDO:equivalentTo Rare adrenal disease semapv:UnspecifiedMatching -MONDO:0015125 obsolete rare thyroid disease Orphanet:101955 MONDO:equivalentTo Rare thyroid disease semapv:UnspecifiedMatching -MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency Orphanet:101963 MONDO:equivalentTo Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching -MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production Orphanet:101977 MONDO:equivalentTo Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching -MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect Orphanet:101985 MONDO:equivalentTo Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching -MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity Orphanet:101988 MONDO:equivalentTo Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching -MONDO:0015139 obsolete rare epilepsy Orphanet:101998 MONDO:equivalentTo Rare epilepsy semapv:UnspecifiedMatching -MONDO:0015141 obsolete disorder of medulla oblongata Orphanet:102000 MONDO:equivalentTo Medullar disease semapv:UnspecifiedMatching -MONDO:0015143 obsolete rare movement disorder Orphanet:102003 MONDO:equivalentTo Rare movement disorder semapv:UnspecifiedMatching -MONDO:0015144 obsolete brain inflammatory disease Orphanet:102005 MONDO:equivalentTo Brain inflammatory disease semapv:UnspecifiedMatching -MONDO:0015145 obsolete neurovascular malformation Orphanet:102006 MONDO:equivalentTo Neurovascular malformation semapv:UnspecifiedMatching -MONDO:0015162 obsolete rare syndromic intellectual disability Orphanet:102369 MONDO:equivalentTo Rare syndromic intellectual disability semapv:UnspecifiedMatching -MONDO:0015180 obsolete intestinal disease due to fat malabsorption Orphanet:104005 MONDO:equivalentTo Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching -MONDO:0015188 obsolete metabolic disorder with intestinal involvement Orphanet:104013 MONDO:equivalentTo Metabolic disease with intestinal involvement semapv:UnspecifiedMatching -MONDO:0015207 obsolete non-syndromic esophageal malformation Orphanet:108959 MONDO:equivalentTo Non-syndromic esophageal malformation semapv:UnspecifiedMatching -MONDO:0015208 obsolete syndromic esophageal malformation Orphanet:108961 MONDO:equivalentTo Syndromic esophageal malformation semapv:UnspecifiedMatching -MONDO:0015209 obsolete non-syndromic gastroduodenal malformation Orphanet:108963 MONDO:equivalentTo Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching -MONDO:0015210 obsolete syndromic gastroduodenal malformation Orphanet:108965 MONDO:equivalentTo Syndromic gastroduodenal malformation semapv:UnspecifiedMatching -MONDO:0015214 obsolete syndromic visceral malformation Orphanet:108973 MONDO:equivalentTo Syndromic visceral malformation semapv:UnspecifiedMatching -MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation Orphanet:108977 MONDO:equivalentTo Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching -MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation Orphanet:108979 MONDO:equivalentTo Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching -MONDO:0015219 obsolete non-syndromic central nervous system malformation Orphanet:108989 MONDO:equivalentTo Non-syndromic central nervous system malformation semapv:UnspecifiedMatching -MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature Orphanet:108991 MONDO:equivalentTo Syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching -MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation Orphanet:108993 MONDO:equivalentTo Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching -MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation Orphanet:108995 MONDO:equivalentTo Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching -MONDO:0015223 obsolete rare anemia Orphanet:108997 MONDO:equivalentTo Rare anemia semapv:UnspecifiedMatching -MONDO:0015224 obsolete rare intoxication Orphanet:108999 MONDO:equivalentTo Rare disorder due to toxic effects semapv:UnspecifiedMatching -MONDO:0015227 obsolete non-syndromic limb malformation Orphanet:109011 MONDO:equivalentTo Non-syndromic limb malformation semapv:UnspecifiedMatching -MONDO:0015245 obsolete rare intestinal disease Orphanet:117569 MONDO:equivalentTo Rare intestinal disease semapv:UnspecifiedMatching -MONDO:0015305 obsolete rare endometriosis Orphanet:137820 MONDO:equivalentTo Extrapelvic endometriosis semapv:UnspecifiedMatching -MONDO:0015310 obsolete syndromic optic nerve hypoplasia Orphanet:137905 MONDO:equivalentTo Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching -MONDO:0015319 obsolete rare disease with Pierre Robin syndrome Orphanet:138044 MONDO:equivalentTo Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching -MONDO:0015323 obsolete teratogenic Pierre Robin syndrome Orphanet:138059 MONDO:equivalentTo Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching -MONDO:0015328 obsolete rare bone development disorder Orphanet:139012 MONDO:equivalentTo Rare bone development disorder semapv:UnspecifiedMatching -MONDO:0015329 obsolete malformation syndrome with short stature Orphanet:139021 MONDO:equivalentTo Malformation syndrome with short stature semapv:UnspecifiedMatching -MONDO:0015330 obsolete overgrowth/obesity syndrome Orphanet:139024 MONDO:equivalentTo Overgrowth/obesity syndrome semapv:UnspecifiedMatching -MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement Orphanet:139027 MONDO:equivalentTo Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching -MONDO:0015332 obsolete rare developmental defect with connective tissue involvement Orphanet:139030 MONDO:equivalentTo Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching -MONDO:0015334 obsolete branchial arch or oral-acral syndrome Orphanet:139036 MONDO:equivalentTo Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching -MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate Orphanet:139039 MONDO:equivalentTo Orofacial clefting syndrome semapv:UnspecifiedMatching -MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component Orphanet:139042 MONDO:equivalentTo Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching -MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy Orphanet:140453 MONDO:equivalentTo Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching -MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy Orphanet:140456 MONDO:equivalentTo Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching -MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy Orphanet:140459 MONDO:equivalentTo Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching -MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy Orphanet:140474 MONDO:equivalentTo Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching -MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy Orphanet:140477 MONDO:equivalentTo Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching -MONDO:0015368 obsolete neuro-ophthalmological disease Orphanet:140653 MONDO:equivalentTo Neuro-ophthalmological disease semapv:UnspecifiedMatching -MONDO:0015475 obsolete rare head and neck malformation Orphanet:155832 MONDO:equivalentTo Rare head and neck malformation semapv:UnspecifiedMatching -MONDO:0015485 obsolete primary hereditary glaucoma Orphanet:156005 MONDO:equivalentTo Primary early-onset glaucoma semapv:UnspecifiedMatching -MONDO:0015488 obsolete predominantly large-vessel vasculitis Orphanet:156140 MONDO:equivalentTo Predominantly large-vessel vasculitis semapv:UnspecifiedMatching -MONDO:0015489 obsolete predominantly medium-vessel vasculitis Orphanet:156143 MONDO:equivalentTo Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching -MONDO:0015490 obsolete predominantly small-vessel vasculitis Orphanet:156146 MONDO:equivalentTo Predominantly small-vessel vasculitis semapv:UnspecifiedMatching -MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes Orphanet:156202 MONDO:equivalentTo Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching -MONDO:0015499 obsolete paralytic facial malformation Orphanet:156224 MONDO:equivalentTo Paralytic facial malformation semapv:UnspecifiedMatching -MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations Orphanet:156237 MONDO:equivalentTo Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching -MONDO:0015502 obsolete pinnae and external auditory canal anomaly Orphanet:156243 MONDO:equivalentTo Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching -MONDO:0015504 obsolete larynx anomaly Orphanet:156249 MONDO:equivalentTo Larynx anomaly semapv:UnspecifiedMatching -MONDO:0015506 obsolete rare syndrome with cardiac malformations Orphanet:156532 MONDO:equivalentTo Rare syndrome with cardiac malformations semapv:UnspecifiedMatching -MONDO:0015507 obsolete rare genetic hepatic disease Orphanet:156601 MONDO:equivalentTo Rare genetic hepatic disease semapv:UnspecifiedMatching -MONDO:0015508 obsolete hereditary parenchymatous liver disease Orphanet:156604 MONDO:equivalentTo Genetic parenchymatous liver disease semapv:UnspecifiedMatching -MONDO:0015509 obsolete hereditary biliary tract disease Orphanet:156607 MONDO:equivalentTo Genetic biliary tract disease semapv:UnspecifiedMatching -MONDO:0015510 obsolete rare genetic respiratory disease Orphanet:156610 MONDO:equivalentTo Rare genetic respiratory disease semapv:UnspecifiedMatching -MONDO:0015511 obsolete rare genetic urogenital disease Orphanet:156619 MONDO:equivalentTo Rare genetic urogenital disease semapv:UnspecifiedMatching -MONDO:0015512 obsolete genetic hypertension Orphanet:156629 MONDO:equivalentTo Rare genetic cause of hypertension semapv:UnspecifiedMatching -MONDO:0015513 obsolete rare genetic endocrine disease Orphanet:156638 MONDO:equivalentTo Rare genetic endocrine disease semapv:UnspecifiedMatching -MONDO:0015549 obsolete rare genetic hematologic disease Orphanet:158300 MONDO:equivalentTo Rare genetic hematologic disease semapv:UnspecifiedMatching -MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration Orphanet:163209 MONDO:equivalentTo Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching -MONDO:0015575 obsolete rare bacterial infectious disease Orphanet:163582 MONDO:equivalentTo Rare bacterial infectious disease semapv:UnspecifiedMatching -MONDO:0015576 obsolete rare viral disease Orphanet:163585 MONDO:equivalentTo Rare viral disease semapv:UnspecifiedMatching -MONDO:0015577 obsolete rare parasitic disease Orphanet:163588 MONDO:equivalentTo Rare parasitic disease semapv:UnspecifiedMatching -MONDO:0015578 obsolete rare mycosis Orphanet:163591 MONDO:equivalentTo Rare mycosis semapv:UnspecifiedMatching -MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium Orphanet:163637 MONDO:equivalentTo Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching -MONDO:0015603 obsolete rare odontal or periodontal disorder Orphanet:164001 MONDO:equivalentTo Rare odontal or periodontal disorder semapv:UnspecifiedMatching -MONDO:0015615 obsolete rare genetic gastroenterological disease Orphanet:165652 MONDO:equivalentTo Rare genetic gastroenterological disease semapv:UnspecifiedMatching -MONDO:0015616 obsolete rare genetic intestinal disease Orphanet:165655 MONDO:equivalentTo Genetic intestinal disease semapv:UnspecifiedMatching -MONDO:0015617 obsolete hereditary gastro-esophageal disease Orphanet:165658 MONDO:equivalentTo Genetic gastro-esophageal disease semapv:UnspecifiedMatching -MONDO:0015618 obsolete genetic pancreatic disease Orphanet:165661 MONDO:equivalentTo Genetic pancreatic disease semapv:UnspecifiedMatching -MONDO:0015620 obsolete syndromic urogenital tract malformation Orphanet:165707 MONDO:equivalentTo Syndromic urogenital tract malformation semapv:UnspecifiedMatching -MONDO:0015621 obsolete rare abdominal surgical disease Orphanet:165711 MONDO:equivalentTo Rare abdominal surgical disease semapv:UnspecifiedMatching -MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy Orphanet:166466 MONDO:equivalentTo Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching -MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature Orphanet:166469 MONDO:equivalentTo Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching -MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes Orphanet:166475 MONDO:equivalentTo Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching -MONDO:0015655 obsolete cerebral malformation with epilepsy Orphanet:166478 MONDO:equivalentTo Cerebral malformation with epilepsy semapv:UnspecifiedMatching -MONDO:0015656 obsolete metabolic disease with epilepsy Orphanet:166481 MONDO:equivalentTo Metabolic diseases with epilepsy semapv:UnspecifiedMatching -MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy Orphanet:166484 MONDO:equivalentTo Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching -MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy Orphanet:166487 MONDO:equivalentTo Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching -MONDO:0015659 obsolete infectious disease with epilepsy Orphanet:166490 MONDO:equivalentTo Infectious disease with epilepsy semapv:UnspecifiedMatching -MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect Orphanet:166775 MONDO:equivalentTo Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching -MONDO:0015668 obsolete hereditary dentin defect Orphanet:167759 MONDO:equivalentTo Hereditary dentin defect semapv:UnspecifiedMatching -MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta Orphanet:167762 MONDO:equivalentTo Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching -MONDO:0015673 obsolete rare cardiac tumor Orphanet:168194 MONDO:equivalentTo Rare cardiac tumor semapv:UnspecifiedMatching -MONDO:0015682 obsolete primary peritoneal tumor Orphanet:168803 MONDO:equivalentTo Primary peritoneal tumor semapv:UnspecifiedMatching -MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency Orphanet:169361 MONDO:equivalentTo Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching -MONDO:0015765 obsolete congenital myopathy with cores Orphanet:172976 MONDO:equivalentTo Congenital myopathy with cores semapv:UnspecifiedMatching -MONDO:0015777 obsolete adult hypothyroidism Orphanet:177101 MONDO:equivalentTo Rare adult hypothyroidism semapv:UnspecifiedMatching -MONDO:0015778 obsolete syndromic hypothyroidism Orphanet:177107 MONDO:equivalentTo Syndromic hypothyroidism semapv:UnspecifiedMatching -MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations Orphanet:178025 MONDO:equivalentTo Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching -MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity Orphanet:179006 MONDO:equivalentTo Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching -MONDO:0015846 obsolete syndromic uterovaginal malformation Orphanet:180148 MONDO:equivalentTo Syndromic uterovaginal malformation semapv:UnspecifiedMatching -MONDO:0015851 obsolete rare breast malformation Orphanet:180163 MONDO:equivalentTo Rare breast malformation semapv:UnspecifiedMatching -MONDO:0015852 obsolete excess breast volume or number Orphanet:180170 MONDO:equivalentTo Excess breast volume or number semapv:UnspecifiedMatching -MONDO:0015853 obsolete deficient breast volume or number Orphanet:180173 MONDO:equivalentTo Deficient breast volume or number semapv:UnspecifiedMatching -MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease Orphanet:180199 MONDO:equivalentTo Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching -MONDO:0015858 obsolete rare non-malformative breast disease Orphanet:180202 MONDO:equivalentTo Rare non-malformative breast disease semapv:UnspecifiedMatching -MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease Orphanet:180205 MONDO:equivalentTo Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching -MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle Orphanet:180208 MONDO:equivalentTo Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching -MONDO:0015861 obsolete rare uterine adnexal tumor Orphanet:180220 MONDO:equivalentTo Rare uterine adnexal tumor semapv:UnspecifiedMatching -MONDO:0015868 obsolete rare breast tumor Orphanet:180250 MONDO:equivalentTo Rare breast tumor semapv:UnspecifiedMatching -MONDO:0015870 obsolete rare malignant breast tumor Orphanet:180257 MONDO:equivalentTo Rare malignant breast tumor semapv:UnspecifiedMatching -MONDO:0015875 obsolete rare non-malformative uterine adnexal disease Orphanet:180303 MONDO:equivalentTo Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching -MONDO:0015876 obsolete rare vulvovaginal tumor Orphanet:180312 MONDO:equivalentTo Rare vulvovaginal tumor semapv:UnspecifiedMatching -MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta Orphanet:180766 MONDO:equivalentTo Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching -MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation Orphanet:180776 MONDO:equivalentTo Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching -MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation Orphanet:180779 MONDO:equivalentTo Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching -MONDO:0015881 obsolete gastroesophageal tumor Orphanet:180821 MONDO:equivalentTo Rare gastroesophageal tumor semapv:UnspecifiedMatching -MONDO:0015886 obsolete rare diabetes mellitus type 1 Orphanet:181371 MONDO:equivalentTo Rare diabetes mellitus type 1 semapv:UnspecifiedMatching -MONDO:0015887 obsolete rare diabetes mellitus type 2 Orphanet:181376 MONDO:equivalentTo Rare diabetes mellitus type 2 semapv:UnspecifiedMatching -MONDO:0015888 obsolete other rare diabetes mellitus Orphanet:181381 MONDO:equivalentTo Other rare diabetes mellitus semapv:UnspecifiedMatching -MONDO:0015889 obsolete rare hypothalamic or pituitary disease Orphanet:181384 MONDO:equivalentTo Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching -MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism Orphanet:181387 MONDO:equivalentTo Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching -MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies Orphanet:181390 MONDO:equivalentTo Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching -MONDO:0015893 obsolete rare hypothyroidism Orphanet:181396 MONDO:equivalentTo Rare hypothyroidism semapv:UnspecifiedMatching -MONDO:0015894 obsolete rare hyperthyroidism Orphanet:181399 MONDO:equivalentTo Rare hyperthyroidism semapv:UnspecifiedMatching -MONDO:0015896 obsolete rare hypoparathyroidism Orphanet:181405 MONDO:equivalentTo Rare hypoparathyroidism semapv:UnspecifiedMatching -MONDO:0015897 obsolete rare hyperparathyroidism Orphanet:181408 MONDO:equivalentTo Rare hyperparathyroidism semapv:UnspecifiedMatching -MONDO:0015899 obsolete rare primary hyperaldosteronism Orphanet:181415 MONDO:equivalentTo Rare primary hyperaldosteronism semapv:UnspecifiedMatching -MONDO:0015901 obsolete rare inherited hyperlipidemia Orphanet:181422 MONDO:equivalentTo Rare hyperlipidemia semapv:UnspecifiedMatching -MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism Orphanet:181441 MONDO:equivalentTo Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching -MONDO:0015910 obsolete rare constitutional hemolytic anemia Orphanet:182043 MONDO:equivalentTo Rare constitutional hemolytic anemia semapv:UnspecifiedMatching -MONDO:0015911 obsolete rare acquired hemolytic anemia Orphanet:182047 MONDO:equivalentTo Rare acquired hemolytic anemia semapv:UnspecifiedMatching -MONDO:0015913 obsolete rare thrombotic disease of hematologic origin Orphanet:182054 MONDO:equivalentTo Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching -MONDO:0015915 obsolete cerebellar malformation Orphanet:182061 MONDO:equivalentTo Cerebellar malformation semapv:UnspecifiedMatching -MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease Orphanet:182064 MONDO:equivalentTo Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching -MONDO:0015918 obsolete rare neurodegenerative disease Orphanet:182070 MONDO:equivalentTo Rare neurodegenerative disease semapv:UnspecifiedMatching -MONDO:0015921 obsolete ARX-related epileptic encephalopathy Orphanet:182079 MONDO:equivalentTo ARX-related epileptic encephalopathy semapv:UnspecifiedMatching -MONDO:0015922 obsolete channelopathy with epilepsy Orphanet:182083 MONDO:equivalentTo Channelopathy with epilepsy semapv:UnspecifiedMatching -MONDO:0015930 obsolete respiratory malformation Orphanet:182111 MONDO:equivalentTo Respiratory malformation semapv:UnspecifiedMatching -MONDO:0015931 obsolete rare urogenital tumor Orphanet:182114 MONDO:equivalentTo Rare urogenital tumor semapv:UnspecifiedMatching -MONDO:0015940 obsolete rare rheumatologic disease Orphanet:182231 MONDO:equivalentTo Rare rheumatologic disease semapv:UnspecifiedMatching -MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer Orphanet:183422 MONDO:equivalentTo Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching -MONDO:0015946 obsolete rare genetic epidermal disorder Orphanet:183426 MONDO:equivalentTo Genetic epidermal disorder semapv:UnspecifiedMatching -MONDO:0015948 obsolete rare genetic skin vascular disorder Orphanet:183478 MONDO:equivalentTo Genetic skin vascular disorder semapv:UnspecifiedMatching -MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder Orphanet:183484 MONDO:equivalentTo Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching -MONDO:0015950 obsolete inherited skin tumor Orphanet:183487 MONDO:equivalentTo Genetic skin tumor or hamartoma semapv:UnspecifiedMatching -MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease Orphanet:183503 MONDO:equivalentTo Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching -MONDO:0015954 obsolete rare genetic headache disorder Orphanet:183509 MONDO:equivalentTo Rare genetic headache semapv:UnspecifiedMatching -MONDO:0015955 obsolete rare genetic epilepsy Orphanet:183512 MONDO:equivalentTo Rare genetic epilepsy semapv:UnspecifiedMatching -MONDO:0015957 obsolete rare genetic movement disorder Orphanet:183521 MONDO:equivalentTo Rare genetic movement disorder semapv:UnspecifiedMatching -MONDO:0015958 obsolete rare genetic bone disease Orphanet:183524 MONDO:equivalentTo Rare genetic bone disease semapv:UnspecifiedMatching -MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature Orphanet:183527 MONDO:equivalentTo Genetic bone tumor semapv:UnspecifiedMatching -MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis Orphanet:183530 MONDO:equivalentTo Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching -MONDO:0015961 obsolete hereditary head and neck malformation Orphanet:183583 MONDO:equivalentTo Genetic head and neck malformation semapv:UnspecifiedMatching -MONDO:0015963 obsolete inherited renal tumor Orphanet:183595 MONDO:equivalentTo Genetic renal tumor semapv:UnspecifiedMatching -MONDO:0015966 obsolete hereditary eye tumor Orphanet:183619 MONDO:equivalentTo Genetic eye tumor semapv:UnspecifiedMatching -MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease Orphanet:183628 MONDO:equivalentTo Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching -MONDO:0015969 obsolete rare genetic thyroid disease Orphanet:183631 MONDO:equivalentTo Rare genetic thyroid disease semapv:UnspecifiedMatching -MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder Orphanet:183634 MONDO:equivalentTo Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching -MONDO:0015971 obsolete rare genetic adrenal disease Orphanet:183637 MONDO:equivalentTo Rare genetic adrenal disease semapv:UnspecifiedMatching -MONDO:0015972 obsolete rare constitutional anemia Orphanet:183651 MONDO:equivalentTo Rare constitutional anemia semapv:UnspecifiedMatching -MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases Orphanet:183731 MONDO:equivalentTo Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching -MONDO:0015981 obsolete inherited gynecological tumor Orphanet:183734 MONDO:equivalentTo Genetic gynecological tumor semapv:UnspecifiedMatching -MONDO:0015982 obsolete rare genetic intellectual disability Orphanet:183757 MONDO:equivalentTo Rare genetic intellectual disability semapv:UnspecifiedMatching -MONDO:0015984 obsolete rare genetic immune disease Orphanet:183770 MONDO:equivalentTo Rare genetic immune disease semapv:UnspecifiedMatching -MONDO:0016034 obsolete cleft lip with or without cleft palate Orphanet:1991 MONDO:equivalentTo Cleft lip with or without cleft palate semapv:UnspecifiedMatching -MONDO:0016054 obsolete cerebral malformation Orphanet:199633 MONDO:equivalentTo Non-syndromic cerebral malformation semapv:UnspecifiedMatching -MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature Orphanet:199639 MONDO:equivalentTo Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching -MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin Orphanet:202940 MONDO:equivalentTo Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching -MONDO:0016104 obsolete infectious disease with peripheral neuropathy Orphanet:206613 MONDO:equivalentTo Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0016109 obsolete autosomal recessive distal myopathy Orphanet:206653 MONDO:equivalentTo Autosomal recessive distal myopathy semapv:UnspecifiedMatching -MONDO:0016110 obsolete non-dystrophic myopathy Orphanet:206656 MONDO:equivalentTo Non-dystrophic myopathy semapv:UnspecifiedMatching -MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood Orphanet:206704 MONDO:equivalentTo Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching -MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood Orphanet:206707 MONDO:equivalentTo Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching -MONDO:0016116 obsolete generalized bulbospinal muscular atrophy Orphanet:206710 MONDO:equivalentTo Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching -MONDO:0016118 obsolete muscular glycogenosis Orphanet:206959 MONDO:equivalentTo Muscular glycogenosis semapv:UnspecifiedMatching -MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly Orphanet:207012 MONDO:equivalentTo Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching -MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy Orphanet:207015 MONDO:equivalentTo Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy Orphanet:207018 MONDO:equivalentTo Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy Orphanet:207021 MONDO:equivalentTo Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy Orphanet:207025 MONDO:equivalentTo Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy Orphanet:207038 MONDO:equivalentTo Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching -MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy Orphanet:207046 MONDO:equivalentTo Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 Orphanet:207098 MONDO:equivalentTo Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching -MONDO:0016152 obsolete qualitative or quantitative defects of calpain Orphanet:207104 MONDO:equivalentTo Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching -MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin Orphanet:207110 MONDO:equivalentTo Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching -MONDO:0016157 obsolete qualitative or quantitative defects of fukutin Orphanet:207122 MONDO:equivalentTo Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching -MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy Orphanet:208974 MONDO:equivalentTo Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching -MONDO:0016170 obsolete chronic polyradiculoneuropathy Orphanet:208978 MONDO:equivalentTo Chronic polyradiculoneuropathy semapv:UnspecifiedMatching -MONDO:0016172 obsolete acquired sensory ganglionopathy Orphanet:208984 MONDO:equivalentTo Acquired sensory ganglionopathy semapv:UnspecifiedMatching -MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy Orphanet:209007 MONDO:equivalentTo Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy Orphanet:209010 MONDO:equivalentTo Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching -MONDO:0016179 obsolete acquired amyloid peripheral neuropathy Orphanet:209013 MONDO:equivalentTo Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy Orphanet:209016 MONDO:equivalentTo Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy Orphanet:209019 MONDO:equivalentTo Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase Orphanet:209024 MONDO:equivalentTo Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching -MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like Orphanet:209027 MONDO:equivalentTo Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching -MONDO:0016196 obsolete qualitative or quantitative defects of emerin Orphanet:209188 MONDO:equivalentTo Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching -MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Orphanet:209203 MONDO:equivalentTo Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching -MONDO:0016221 obsolete temporomandibular joint anomaly Orphanet:210581 MONDO:equivalentTo Temporomandibular joint anomaly semapv:UnspecifiedMatching -MONDO:0016228 obsolete rare vascular tumor Orphanet:211237 MONDO:equivalentTo Rare vascular tumor semapv:UnspecifiedMatching -MONDO:0016229 obsolete hereditary vascular anomaly Orphanet:211240 MONDO:equivalentTo Genetic vascular anomaly semapv:UnspecifiedMatching -MONDO:0016230 obsolete simple vascular malformation Orphanet:211243 MONDO:equivalentTo Simple vascular malformation semapv:UnspecifiedMatching -MONDO:0016232 obsolete rare venous malformation Orphanet:211252 MONDO:equivalentTo Rare venous malformation semapv:UnspecifiedMatching -MONDO:0016233 obsolete rare lymphatic system malformation Orphanet:211255 MONDO:equivalentTo Rare lymphatic system anomaly semapv:UnspecifiedMatching -MONDO:0016235 obsolete complex vascular malformation with associated anomalies Orphanet:211277 MONDO:equivalentTo Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching -MONDO:0016252 obsolete rare uterine cancer Orphanet:213564 MONDO:equivalentTo Rare uterine cancer semapv:UnspecifiedMatching -MONDO:0016253 obsolete rare cancer of corpus uteri Orphanet:213569 MONDO:equivalentTo Rare cancer of corpus uteri semapv:UnspecifiedMatching -MONDO:0016274 obsolete rare cancer of cervix uteri Orphanet:213761 MONDO:equivalentTo Rare cancer of cervix uteri semapv:UnspecifiedMatching -MONDO:0016320 obsolete rare hereditary thrombophilia Orphanet:217454 MONDO:equivalentTo Rare hereditary thrombophilia semapv:UnspecifiedMatching -MONDO:0016343 obsolete unclassified cardiomyopathy Orphanet:217678 MONDO:equivalentTo Unclassified cardiomyopathy semapv:UnspecifiedMatching -MONDO:0016347 obsolete rare cardiac rhythm disease Orphanet:218436 MONDO:equivalentTo Rare cardiac rhythm disease semapv:UnspecifiedMatching -MONDO:0016348 obsolete non-genetic cardiac rhythm disease Orphanet:218439 MONDO:equivalentTo Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching -MONDO:0016375 obsolete acquired peripheral movement disorder Orphanet:221114 MONDO:equivalentTo Acquired peripheral movement disorder semapv:UnspecifiedMatching -MONDO:0016397 obsolete lysosomal disease with epilepsy Orphanet:225681 MONDO:equivalentTo Lysosomal disease with epilepsy semapv:UnspecifiedMatching -MONDO:0016398 obsolete peroxisomal disease with epilepsy Orphanet:225686 MONDO:equivalentTo Peroxisomal disease with epilepsy semapv:UnspecifiedMatching -MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy Orphanet:225689 MONDO:equivalentTo Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching -MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy Orphanet:225692 MONDO:equivalentTo Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching -MONDO:0016401 obsolete energy metabolism disorder with epilepsy Orphanet:225696 MONDO:equivalentTo Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching -MONDO:0016402 obsolete mitochondrial disease with epilepsy Orphanet:225700 MONDO:equivalentTo Mitochondrial disease with epilepsy semapv:UnspecifiedMatching -MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy Orphanet:225703 MONDO:equivalentTo Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy Orphanet:225707 MONDO:equivalentTo Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching -MONDO:0016405 obsolete sterol metabolism disorder with epilepsy Orphanet:225710 MONDO:equivalentTo Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching -MONDO:0016406 obsolete other metabolic disease with epilepsy Orphanet:225713 MONDO:equivalentTo Other metabolic disease with epilepsy semapv:UnspecifiedMatching -MONDO:0016409 obsolete primary congenital hypothyroidism Orphanet:226295 MONDO:equivalentTo Primary congenital hypothyroidism semapv:UnspecifiedMatching -MONDO:0016428 obsolete multiple sclerosis variant Orphanet:228145 MONDO:equivalentTo Multiple sclerosis variant semapv:UnspecifiedMatching -MONDO:0016434 obsolete acquired dermis elastic tissue disorder Orphanet:228218 MONDO:equivalentTo Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching -MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue Orphanet:228221 MONDO:equivalentTo Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching -MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue Orphanet:228224 MONDO:equivalentTo Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching -MONDO:0016493 obsolete variant of Guillain-Barre syndrome Orphanet:231413 MONDO:equivalentTo Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching -MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome Orphanet:231416 MONDO:equivalentTo Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching -MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome Orphanet:231419 MONDO:equivalentTo Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching -MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism Orphanet:231637 MONDO:equivalentTo Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching -MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism Orphanet:231641 MONDO:equivalentTo Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching -MONDO:0016517 obsolete rare genetic vascular disease Orphanet:233655 MONDO:equivalentTo Rare genetic vascular disease semapv:UnspecifiedMatching -MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma Orphanet:2338 MONDO:equivalentTo Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching -MONDO:0016524 obsolete congenital vascular bone syndrome Orphanet:235832 MONDO:equivalentTo Congenital vascular bone syndrome semapv:UnspecifiedMatching -MONDO:0016565 obsolete syndromic genetic obesity Orphanet:240371 MONDO:equivalentTo Syndromic obesity semapv:UnspecifiedMatching -MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Orphanet:2443 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching -MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis Orphanet:244305 MONDO:equivalentTo Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching -MONDO:0016623 obsolete rare deficiency anemia Orphanet:248293 MONDO:equivalentTo Rare deficiency anemia semapv:UnspecifiedMatching -MONDO:0016627 obsolete rare hemorrhagic disorder Orphanet:248308 MONDO:equivalentTo Rare hemorrhagic disorder semapv:UnspecifiedMatching -MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect Orphanet:248315 MONDO:equivalentTo Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching -MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly Orphanet:248326 MONDO:equivalentTo Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching -MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly Orphanet:248347 MONDO:equivalentTo Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching -MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect Orphanet:248358 MONDO:equivalentTo Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching -MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect Orphanet:248361 MONDO:equivalentTo Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching -MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect Orphanet:248365 MONDO:equivalentTo Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching -MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly Orphanet:248368 MONDO:equivalentTo Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching -MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly Orphanet:248401 MONDO:equivalentTo Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching -MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly Orphanet:248404 MONDO:equivalentTo Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching -MONDO:0016645 obsolete rare neoplastic disease Orphanet:250908 MONDO:equivalentTo Rare neoplastic disease semapv:UnspecifiedMatching -MONDO:0016678 obsolete maternal disease-related embryofetopathy Orphanet:251535 MONDO:equivalentTo Maternal disease-related embryofetopathy semapv:UnspecifiedMatching -MONDO:0016679 obsolete rare tumor of neuroepithelial tissue Orphanet:251558 MONDO:equivalentTo Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching -MONDO:0016701 obsolete oligoastrocytic tumor Orphanet:251651 MONDO:equivalentTo Oligoastrocytic tumor semapv:UnspecifiedMatching -MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin Orphanet:251668 MONDO:equivalentTo Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching -MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue Orphanet:251852 MONDO:equivalentTo Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching -MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue Orphanet:251905 MONDO:equivalentTo Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching -MONDO:0016726 obsolete neuronal tumor Orphanet:251924 MONDO:equivalentTo Neuronal tumor semapv:UnspecifiedMatching -MONDO:0016744 obsolete primary melanocytic tumor of central nervous system Orphanet:252028 MONDO:equivalentTo Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching -MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome Orphanet:252190 MONDO:equivalentTo Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching -MONDO:0016767 obsolete cutaneous lichen planus Orphanet:254370 MONDO:equivalentTo Rare cutaneous lichen planus semapv:UnspecifiedMatching -MONDO:0016768 obsolete rare mucosal lichen planus Orphanet:254373 MONDO:equivalentTo Rare mucosal lichen planus semapv:UnspecifiedMatching -MONDO:0016788 obsolete genetic hyperferritinemia without iron overload Orphanet:254704 MONDO:equivalentTo Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching -MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Orphanet:254758 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching -MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA Orphanet:254767 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching -MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Orphanet:254776 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching -MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy Orphanet:254788 MONDO:equivalentTo Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching -MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism Orphanet:254822 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching -MONDO:0016803 obsolete unspecified inborn mitochondrial disorder Orphanet:254837 MONDO:equivalentTo Unspecified mitochondrial disorder semapv:UnspecifiedMatching -MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder Orphanet:254846 MONDO:equivalentTo Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching -MONDO:0016998 obsolete complex chromosomal rearrangement Orphanet:263708 MONDO:equivalentTo Complex chromosomal rearrangement semapv:UnspecifiedMatching -MONDO:0016999 obsolete X chromosome number anomaly Orphanet:263714 MONDO:equivalentTo X chromosome number anomaly semapv:UnspecifiedMatching -MONDO:0017000 obsolete X chromosome number anomaly with female phenotype Orphanet:263717 MONDO:equivalentTo X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching -MONDO:0017001 obsolete X chromosome number anomaly with male phenotype Orphanet:263720 MONDO:equivalentTo X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching -MONDO:0017002 obsolete polysomy of X chromosome Orphanet:263723 MONDO:equivalentTo Polysomy of X chromosome semapv:UnspecifiedMatching -MONDO:0017005 obsolete Y chromosome number anomaly Orphanet:263746 MONDO:equivalentTo Y chromosome number anomaly semapv:UnspecifiedMatching -MONDO:0017006 obsolete X and Y chromosomal anomaly Orphanet:263749 MONDO:equivalentTo X and Y chromosomal anomaly semapv:UnspecifiedMatching -MONDO:0017011 obsolete uniparental disomy of chromosome X Orphanet:263793 MONDO:equivalentTo Uniparental disomy of chromosome X semapv:UnspecifiedMatching -MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column Orphanet:268843 MONDO:equivalentTo Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching -MONDO:0017090 obsolete midline cerebral malformation Orphanet:268926 MONDO:equivalentTo Midline cerebral malformation semapv:UnspecifiedMatching -MONDO:0017104 obsolete central nervous system cystic malformation Orphanet:269194 MONDO:equivalentTo Central nervous system cystic malformation semapv:UnspecifiedMatching -MONDO:0017114 obsolete global cerebellar malformation Orphanet:269224 MONDO:equivalentTo Global cerebellar malformation semapv:UnspecifiedMatching -MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature Orphanet:269523 MONDO:equivalentTo Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching -MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature Orphanet:269531 MONDO:equivalentTo Other syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching -MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature Orphanet:269546 MONDO:equivalentTo Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching -MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature Orphanet:269573 MONDO:equivalentTo Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching -MONDO:0017127 obsolete inherited soft tissue tumor Orphanet:271832 MONDO:equivalentTo Genetic soft tissue tumor semapv:UnspecifiedMatching -MONDO:0017128 obsolete inherited digestive tract tumor Orphanet:271835 MONDO:equivalentTo Genetic digestive tract tumor semapv:UnspecifiedMatching -MONDO:0017129 obsolete inherited cardiac tumor Orphanet:271841 MONDO:equivalentTo Genetic cardiac tumor semapv:UnspecifiedMatching -MONDO:0017130 obsolete genetic urogenital tumor Orphanet:271844 MONDO:equivalentTo Genetic urogenital tumor semapv:UnspecifiedMatching -MONDO:0017131 obsolete hereditary cardiac anomaly Orphanet:271853 MONDO:equivalentTo Genetic cardiac anomaly semapv:UnspecifiedMatching -MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia Orphanet:275729 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching -MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect Orphanet:275736 MONDO:equivalentTo Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching -MONDO:0017143 obsolete genetic infertility Orphanet:275742 MONDO:equivalentTo Genetic infertility semapv:UnspecifiedMatching -MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism Orphanet:275844 MONDO:equivalentTo Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching -MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature Orphanet:275853 MONDO:equivalentTo Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching -MONDO:0017166 obsolete rare tumor of salivary glands Orphanet:276142 MONDO:equivalentTo Rare tumor of salivary glands semapv:UnspecifiedMatching -MONDO:0017234 obsolete inherited prion disease Orphanet:280400 MONDO:equivalentTo Inherited human prion disease semapv:UnspecifiedMatching -MONDO:0017259 obsolete systemic diseases with anterior uveitis Orphanet:280926 MONDO:equivalentTo Systemic diseases with anterior uveitis semapv:UnspecifiedMatching -MONDO:0017260 obsolete systemic diseases with posterior uveitis Orphanet:280930 MONDO:equivalentTo Systemic diseases with posterior uveitis semapv:UnspecifiedMatching -MONDO:0017261 obsolete systemic diseases with panuveitis Orphanet:280933 MONDO:equivalentTo Systemic diseases with panuveitis semapv:UnspecifiedMatching -MONDO:0017262 obsolete inherited non-syndromic ichthyosis Orphanet:281082 MONDO:equivalentTo Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching -MONDO:0017270 obsolete autosomal ichthyosis syndrome Orphanet:281217 MONDO:equivalentTo Autosomal ichthyosis syndrome semapv:UnspecifiedMatching -MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities Orphanet:281222 MONDO:equivalentTo Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching -MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs Orphanet:281238 MONDO:equivalentTo Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching -MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course Orphanet:281241 MONDO:equivalentTo Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching -MONDO:0017302 obsolete qualitative or quantitative defects of troponin Orphanet:284786 MONDO:equivalentTo Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching -MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection Orphanet:285014 MONDO:equivalentTo Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching -MONDO:0017368 obsolete systemic disease with skin involvement Orphanet:290836 MONDO:equivalentTo Systemic disease with skin involvement semapv:UnspecifiedMatching -MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency Orphanet:290839 MONDO:equivalentTo Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching -MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement Orphanet:290842 MONDO:equivalentTo Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching -MONDO:0017371 obsolete rare head and neck tumor Orphanet:290849 MONDO:equivalentTo Rare head and neck tumor semapv:UnspecifiedMatching -MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria Orphanet:293355 MONDO:equivalentTo Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching -MONDO:0017414 obsolete rare nevus Orphanet:294057 MONDO:equivalentTo Rare nevus semapv:UnspecifiedMatching -MONDO:0017420 obsolete intercalary limb defects Orphanet:294927 MONDO:equivalentTo Intercalary limb defects semapv:UnspecifiedMatching -MONDO:0017431 obsolete non-syndromic limb overgrowth Orphanet:294953 MONDO:equivalentTo Non syndromic limb overgrowth semapv:UnspecifiedMatching -MONDO:0017432 obsolete syndrome with limb reduction defects Orphanet:294955 MONDO:equivalentTo Syndrome with limb reduction defects semapv:UnspecifiedMatching -MONDO:0017633 obsolete rare intoxication due to medical products Orphanet:306640 MONDO:equivalentTo Rare intoxication due to medical products semapv:UnspecifiedMatching -MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease Orphanet:306666 MONDO:equivalentTo Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching -MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication Orphanet:306679 MONDO:equivalentTo Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching -MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease Orphanet:306695 MONDO:equivalentTo Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching -MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder Orphanet:306708 MONDO:equivalentTo Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching -MONDO:0017644 obsolete rare tremor disorder Orphanet:306712 MONDO:equivalentTo Rare tremor disorder semapv:UnspecifiedMatching -MONDO:0017645 obsolete rare choreic movement disorder Orphanet:306715 MONDO:equivalentTo Rare choreic movement disorder semapv:UnspecifiedMatching -MONDO:0017646 obsolete neurodegenerative disease with chorea Orphanet:306719 MONDO:equivalentTo Neurodegenerative disease with chorea semapv:UnspecifiedMatching -MONDO:0017647 obsolete postinfectious autoimmune disease with chorea Orphanet:306727 MONDO:equivalentTo Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching -MONDO:0017650 obsolete rare myoclonus Orphanet:306747 MONDO:equivalentTo Rare myoclonus semapv:UnspecifiedMatching -MONDO:0017651 obsolete primary myoclonus Orphanet:306750 MONDO:equivalentTo Primary myoclonus semapv:UnspecifiedMatching -MONDO:0017652 obsolete rare disease with myoclonus as a major feature Orphanet:306753 MONDO:equivalentTo Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching -MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature Orphanet:306756 MONDO:equivalentTo Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching -MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature Orphanet:306759 MONDO:equivalentTo Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching -MONDO:0017656 obsolete motor stereotypies Orphanet:306765 MONDO:equivalentTo Motor stereotypies semapv:UnspecifiedMatching -MONDO:0017657 obsolete rare paroxysmal movement disorder Orphanet:306768 MONDO:equivalentTo Rare paroxysmal movement disorder semapv:UnspecifiedMatching -MONDO:0017660 obsolete rare genetic parkinsonian disorder Orphanet:307052 MONDO:equivalentTo Rare genetic parkinsonian disorder semapv:UnspecifiedMatching -MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease Orphanet:307055 MONDO:equivalentTo Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching -MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease Orphanet:307058 MONDO:equivalentTo Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching -MONDO:0017663 obsolete inherited tremor disorder Orphanet:307061 MONDO:equivalentTo Rare genetic tremor disorder semapv:UnspecifiedMatching -MONDO:0017663 obsolete inherited tremor disorder Orphanet:307064 MONDO:equivalentTo Rare genetic myoclonus semapv:UnspecifiedMatching -MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature Orphanet:307067 MONDO:equivalentTo Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching -MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma Orphanet:307148 MONDO:equivalentTo Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching -MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature Orphanet:307711 MONDO:equivalentTo Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching -MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma Orphanet:307773 MONDO:equivalentTo Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching -MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature Orphanet:307804 MONDO:equivalentTo Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching -MONDO:0017673 obsolete isolated focal palmoplantar keratoderma Orphanet:307846 MONDO:equivalentTo Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching -MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature Orphanet:307871 MONDO:equivalentTo Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching -MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature Orphanet:308023 MONDO:equivalentTo Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching -MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature Orphanet:308031 MONDO:equivalentTo Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching -MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature Orphanet:308041 MONDO:equivalentTo Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching -MONDO:0017710 obsolete congenital systemic veins anomaly Orphanet:3091 MONDO:equivalentTo Congenital systemic veins anomaly semapv:UnspecifiedMatching -MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder Orphanet:309133 MONDO:equivalentTo Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching -MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Orphanet:309136 MONDO:equivalentTo Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching -MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis Orphanet:309450 MONDO:equivalentTo Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching -MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis Orphanet:309458 MONDO:equivalentTo Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching -MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis Orphanet:309463 MONDO:equivalentTo Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching -MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis Orphanet:309469 MONDO:equivalentTo Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching -MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport Orphanet:309833 MONDO:equivalentTo Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching -MONDO:0017797 obsolete rare odontologic tumor Orphanet:314425 MONDO:equivalentTo Rare odontogenic tumor semapv:UnspecifiedMatching -MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature Orphanet:314749 MONDO:equivalentTo Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching -MONDO:0017841 obsolete autoimmune disease with skin involvement Orphanet:315350 MONDO:equivalentTo Autoimmune disease with skin involvement semapv:UnspecifiedMatching -MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome Orphanet:319328 MONDO:equivalentTo Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching -MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Orphanet:319535 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching -MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Orphanet:319539 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching -MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Orphanet:319543 MONDO:equivalentTo Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching -MONDO:0017912 obsolete X-linked pure spastic paraplegia Orphanet:320332 MONDO:equivalentTo X-linked pure spastic paraplegia semapv:UnspecifiedMatching -MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia Orphanet:320342 MONDO:equivalentTo Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching -MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia Orphanet:320346 MONDO:equivalentTo Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching -MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia Orphanet:320350 MONDO:equivalentTo Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching -MONDO:0017954 obsolete pyogenic autoinflammatory syndrome Orphanet:324927 MONDO:equivalentTo Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching -MONDO:0017955 obsolete granulomatous autoinflammatory syndrome Orphanet:324930 MONDO:equivalentTo Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching -MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome Orphanet:324933 MONDO:equivalentTo Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching -MONDO:0017957 obsolete unclassified autoinflammatory syndrome Orphanet:324936 MONDO:equivalentTo Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching -MONDO:0017961 obsolete 46,XX disorder of gonadal development Orphanet:325055 MONDO:equivalentTo 46,XX disorder of gonadal development semapv:UnspecifiedMatching -MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess Orphanet:325061 MONDO:equivalentTo 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching -MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen Orphanet:325093 MONDO:equivalentTo 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching -MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen Orphanet:325099 MONDO:equivalentTo 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching -MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development Orphanet:325109 MONDO:equivalentTo Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching -MONDO:0017966 obsolete 46,XY disorder of gonadal development Orphanet:325118 MONDO:equivalentTo 46,XY disorder of gonadal development semapv:UnspecifiedMatching -MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin Orphanet:325351 MONDO:equivalentTo 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching -MONDO:0017976 obsolete disorder of sex development of gynecological interest Orphanet:325620 MONDO:equivalentTo Difference of sex development of gynecological interest semapv:UnspecifiedMatching -MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest Orphanet:325632 MONDO:equivalentTo 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching -MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest Orphanet:325638 MONDO:equivalentTo Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching -MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity Orphanet:331193 MONDO:equivalentTo Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching -MONDO:0018035 obsolete syndrome with combined immunodeficiency Orphanet:331217 MONDO:equivalentTo Syndrome with combined immunodeficiency semapv:UnspecifiedMatching -MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Orphanet:331232 MONDO:equivalentTo Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching -MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects Orphanet:331244 MONDO:equivalentTo Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching -MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement Orphanet:352306 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching -MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement Orphanet:352309 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching -MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement Orphanet:352312 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching -MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis Orphanet:35696 MONDO:equivalentTo Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching -MONDO:0018185 obsolete congenital anomaly of the great veins Orphanet:363189 MONDO:equivalentTo Congenital anomaly of the great veins semapv:UnspecifiedMatching -MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome Orphanet:363294 MONDO:equivalentTo Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching -MONDO:0018188 obsolete hereditary intestinal polyposis Orphanet:363314 MONDO:equivalentTo Genetic intestinal polyposis semapv:UnspecifiedMatching -MONDO:0018191 obsolete tumor of testis and paratestis Orphanet:363472 MONDO:equivalentTo Tumor of testis and paratestis semapv:UnspecifiedMatching -MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus Orphanet:363567 MONDO:equivalentTo Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching -MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Orphanet:364531 MONDO:equivalentTo Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching -MONDO:0018232 obsolete primary bone dysplasia with micromelia Orphanet:364536 MONDO:equivalentTo Primary bone dysplasia with micromelia semapv:UnspecifiedMatching -MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature Orphanet:364568 MONDO:equivalentTo Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching -MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature Orphanet:364571 MONDO:equivalentTo Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching -MONDO:0018239 obsolete aggrecan-related bone disorder Orphanet:364817 MONDO:equivalentTo Aggrecan-related bone disorder semapv:UnspecifiedMatching -MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome Orphanet:369886 MONDO:equivalentTo Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching -MONDO:0018262 obsolete fetal anticonvulsant syndrome Orphanet:370068 MONDO:equivalentTo Fetal anticonvulsant syndrome semapv:UnspecifiedMatching -MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation Orphanet:370106 MONDO:equivalentTo Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching -MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan Orphanet:371040 MONDO:equivalentTo Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching -MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement Orphanet:371047 MONDO:equivalentTo Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching -MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature Orphanet:371071 MONDO:equivalentTo Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching -MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement Orphanet:371157 MONDO:equivalentTo Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching -MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature Orphanet:371183 MONDO:equivalentTo Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching -MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement Orphanet:371188 MONDO:equivalentTo Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching -MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder Orphanet:371195 MONDO:equivalentTo Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching -MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement Orphanet:371200 MONDO:equivalentTo Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching -MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature Orphanet:371207 MONDO:equivalentTo Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching -MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature Orphanet:371212 MONDO:equivalentTo Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching -MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly Orphanet:371235 MONDO:equivalentTo Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching -MONDO:0018299 obsolete sphingolipidosis with epilepsy Orphanet:371442 MONDO:equivalentTo Sphingolipidosis with epilepsy semapv:UnspecifiedMatching -MONDO:0018318 obsolete disorder of asparagine metabolism Orphanet:391381 MONDO:equivalentTo Disorder of asparagine metabolism semapv:UnspecifiedMatching -MONDO:0018329 obsolete persistent combined dystonia Orphanet:391711 MONDO:equivalentTo Persistent combined dystonia semapv:UnspecifiedMatching -MONDO:0018368 primary peritoneal serous/papillary carcinoma Orphanet:398980 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0018377 obsolete rare hereditary disease with avascular necrosis Orphanet:399185 MONDO:equivalentTo Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching -MONDO:0018384 obsolete avascular necrosis of genetic origin Orphanet:399388 MONDO:equivalentTo Avascular necrosis of genetic origin semapv:UnspecifiedMatching -MONDO:0018385 obsolete osteochondrosis of genetic origin Orphanet:399391 MONDO:equivalentTo Osteochondrosis of genetic origin semapv:UnspecifiedMatching -MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder Orphanet:399572 MONDO:equivalentTo Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching -MONDO:0018387 obsolete rare male infertility due to adrenal disorder Orphanet:399584 MONDO:equivalentTo Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching -MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder Orphanet:399685 MONDO:equivalentTo Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching -MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder Orphanet:399764 MONDO:equivalentTo Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching -MONDO:0018390 obsolete male infertility due to sperm disorder Orphanet:399771 MONDO:equivalentTo Male infertility due to sperm disorder semapv:UnspecifiedMatching -MONDO:0018391 obsolete male infertility with spermatogenesis disorder Orphanet:399775 MONDO:equivalentTo Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching -MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation Orphanet:399786 MONDO:equivalentTo Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching -MONDO:0018395 obsolete male infertility due to sperm motility disorder Orphanet:399813 MONDO:equivalentTo Male infertility due to sperm motility disorder semapv:UnspecifiedMatching -MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia Orphanet:399824 MONDO:equivalentTo Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching -MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder Orphanet:399831 MONDO:equivalentTo Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching -MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism Orphanet:399839 MONDO:equivalentTo Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching -MONDO:0018400 obsolete rare female infertility due to an adrenal disorder Orphanet:399849 MONDO:equivalentTo Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching -MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function Orphanet:399853 MONDO:equivalentTo Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching -MONDO:0018402 obsolete female infertility due to gonadal dysgenesis Orphanet:399877 MONDO:equivalentTo Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching -MONDO:0018403 obsolete female infertility due to an implantation defect Orphanet:399882 MONDO:equivalentTo Rare female infertility due to an implantation defect semapv:UnspecifiedMatching -MONDO:0018404 obsolete rare genetic male infertility Orphanet:399980 MONDO:equivalentTo Rare genetic male infertility semapv:UnspecifiedMatching -MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Orphanet:399983 MONDO:equivalentTo Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching -MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin Orphanet:399994 MONDO:equivalentTo Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching -MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin Orphanet:399998 MONDO:equivalentTo Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching -MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia Orphanet:400003 MONDO:equivalentTo Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching -MONDO:0018410 obsolete rare genetic female infertility Orphanet:400008 MONDO:equivalentTo Rare genetic female infertility semapv:UnspecifiedMatching -MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Orphanet:400011 MONDO:equivalentTo Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching -MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin Orphanet:400018 MONDO:equivalentTo Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching -MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin Orphanet:400022 MONDO:equivalentTo Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching -MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin Orphanet:400025 MONDO:equivalentTo Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching -MONDO:0018444 obsolete female infertility due to fertilization defect Orphanet:404469 MONDO:equivalentTo Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching -MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy Orphanet:404538 MONDO:equivalentTo X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching -MONDO:0018454 obsolete dysostosis of genetic origin Orphanet:404568 MONDO:equivalentTo Dysostosis of genetic origin semapv:UnspecifiedMatching -MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature Orphanet:404571 MONDO:equivalentTo Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching -MONDO:0018457 obsolete rare genetic bone development disorder Orphanet:404584 MONDO:equivalentTo Rare genetic bone development disorder semapv:UnspecifiedMatching -MONDO:0018488 obsolete rare genetic odontal or periodontal disorder Orphanet:420755 MONDO:equivalentTo Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching -MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum Orphanet:423655 MONDO:equivalentTo ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching -MONDO:0018497 obsolete rare autonomic nervous system disorder Orphanet:423662 MONDO:equivalentTo Rare autonomic nervous system disorder semapv:UnspecifiedMatching -MONDO:0018501 obsolete rare carcinoma of stomach Orphanet:423771 MONDO:equivalentTo Rare carcinoma of stomach semapv:UnspecifiedMatching -MONDO:0018520 obsolete rare epithelial tumor of pancreas Orphanet:424033 MONDO:equivalentTo Rare epithelial tumor of pancreas semapv:UnspecifiedMatching -MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 Orphanet:424925 MONDO:equivalentTo Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching -MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome Orphanet:425003 MONDO:equivalentTo Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching -MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection Orphanet:431156 MONDO:equivalentTo Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching -MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies Orphanet:431263 MONDO:equivalentTo Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching -MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder Orphanet:431320 MONDO:equivalentTo Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching -MONDO:0018557 obsolete rare genetic autonomic nervous system disorder Orphanet:434786 MONDO:equivalentTo Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching -MONDO:0018558 obsolete syndrome with wooly hair Orphanet:434809 MONDO:equivalentTo Syndrome with woolly hair semapv:UnspecifiedMatching -MONDO:0018562 obsolete hereditary otorhinolaryngological malformation Orphanet:435603 MONDO:equivalentTo Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching -MONDO:0018579 obsolete disorder of ketone body transport Orphanet:438072 MONDO:equivalentTo Disorder of keton body transport semapv:UnspecifiedMatching -MONDO:0018609 obsolete syndromic hereditary optic neuropathy Orphanet:441434 MONDO:equivalentTo Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching -MONDO:0018652 obsolete biological anomaly without phenotypic characterization Orphanet:447874 MONDO:equivalentTo Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching -MONDO:0018701 obsolete congenital nemaline myopathy Orphanet:457074 MONDO:equivalentTo Congenital nemaline myopathy semapv:UnspecifiedMatching -MONDO:0018718 obsolete vascular tumor with associated anomalies Orphanet:458827 MONDO:equivalentTo Vascular tumor with associated anomalies semapv:UnspecifiedMatching -MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies Orphanet:458830 MONDO:equivalentTo Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching -MONDO:0018720 obsolete common cystic lymphatic malformation Orphanet:458833 MONDO:equivalentTo Common cystic lymphatic malformation semapv:UnspecifiedMatching -MONDO:0018721 obsolete rare combined vascular malformation Orphanet:458837 MONDO:equivalentTo Rare combined vascular malformation semapv:UnspecifiedMatching -MONDO:0018723 obsolete rare vascular malformation of major vessels Orphanet:458844 MONDO:equivalentTo Rare vascular malformation of major vessels semapv:UnspecifiedMatching -MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency Orphanet:459348 MONDO:equivalentTo Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching -MONDO:0018728 obsolete rare genetic capillary malformation Orphanet:459526 MONDO:equivalentTo Rare genetic capillary malformation semapv:UnspecifiedMatching -MONDO:0018729 obsolete genetic vascular tumor Orphanet:459543 MONDO:equivalentTo Rare genetic vascular tumor semapv:UnspecifiedMatching -MONDO:0018730 obsolete rare genetic venous malformation Orphanet:459548 MONDO:equivalentTo Rare genetic venous malformation semapv:UnspecifiedMatching -MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome Orphanet:459787 MONDO:equivalentTo Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching -MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease Orphanet:464764 MONDO:equivalentTo Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching -MONDO:0018753 obsolete rare disease with malignant hyperthermia Orphanet:466658 MONDO:equivalentTo Rare disease with malignant hyperthermia semapv:UnspecifiedMatching -MONDO:0018771 obsolete congenital anomaly of ventricular septum Orphanet:474347 MONDO:equivalentTo Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching -MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy Orphanet:476109 MONDO:equivalentTo Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching -MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome Orphanet:476403 MONDO:equivalentTo Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching -MONDO:0018787 obsolete genetic cerebral small vessel disease Orphanet:477754 MONDO:equivalentTo Genetic cerebral small vessel disease semapv:UnspecifiedMatching -MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease Orphanet:477759 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching -MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency Orphanet:477762 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy semapv:UnspecifiedMatching -MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency Orphanet:477765 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy semapv:UnspecifiedMatching -MONDO:0018791 obsolete Moyomoya angiopathy Orphanet:477768 MONDO:equivalentTo Moyamoya angiopathy semapv:UnspecifiedMatching -MONDO:0018792 obsolete Moyamoya syndrome Orphanet:477771 MONDO:equivalentTo Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching -MONDO:0018796 obsolete isolated constitutional thrombocytopenia Orphanet:477797 MONDO:equivalentTo Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching -MONDO:0018797 obsolete genetic cardiac malformation Orphanet:477805 MONDO:equivalentTo Genetic cardiac malformation semapv:UnspecifiedMatching -MONDO:0018798 obsolete other genetic dermis disorder Orphanet:477808 MONDO:equivalentTo Other genetic dermis disorder semapv:UnspecifiedMatching -MONDO:0018799 obsolete rare hypercholesterolemia Orphanet:477811 MONDO:equivalentTo Rare hypercholesterolemia semapv:UnspecifiedMatching -MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease Orphanet:482072 MONDO:equivalentTo HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching -MONDO:0018833 obsolete rare idiopathic macular telangiectasia Orphanet:482092 MONDO:equivalentTo Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching -MONDO:0018880 obsolete rare teratologic disease Orphanet:52662 MONDO:equivalentTo Rare teratologic disease semapv:UnspecifiedMatching -MONDO:0018928 obsolete rare hepatic disease Orphanet:57146 MONDO:equivalentTo Rare hepatic disease semapv:UnspecifiedMatching -MONDO:0018972 obsolete rare epithelial tumor of stomach Orphanet:63443 MONDO:equivalentTo Rare epithelial tumor of stomach semapv:UnspecifiedMatching -MONDO:0019038 obsolete rare maxillo-facial surgical disease Orphanet:68329 MONDO:equivalentTo Rare maxillo-facial surgical disease semapv:UnspecifiedMatching -MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect Orphanet:68334 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching -MONDO:0019041 obsolete rare genetic inherited tumor Orphanet:68336 MONDO:equivalentTo Rare genetic tumor semapv:UnspecifiedMatching -MONDO:0019043 obsolete rare genetic skin disease Orphanet:68346 MONDO:equivalentTo Rare genetic skin disease semapv:UnspecifiedMatching -MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues Orphanet:68347 MONDO:equivalentTo Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching -MONDO:0019047 obsolete rare deafness Orphanet:68361 MONDO:equivalentTo Rare deafness semapv:UnspecifiedMatching -MONDO:0019048 obsolete rare vascular disease Orphanet:68362 MONDO:equivalentTo Rare vascular disease semapv:UnspecifiedMatching -MONDO:0019049 obsolete rare dystonia Orphanet:68363 MONDO:equivalentTo Rare dystonia semapv:UnspecifiedMatching -MONDO:0019058 obsolete neurometabolic disease Orphanet:68385 MONDO:equivalentTo Neurometabolic disease semapv:UnspecifiedMatching -MONDO:0019059 obsolete rare parkinsonian disorder Orphanet:68402 MONDO:equivalentTo Rare parkinsonian disorder semapv:UnspecifiedMatching -MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly Orphanet:68415 MONDO:equivalentTo Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching -MONDO:0019062 obsolete rare infectious disease Orphanet:68416 MONDO:equivalentTo Rare infectious disease semapv:UnspecifiedMatching -MONDO:0019063 obsolete vascular anomaly Orphanet:68419 MONDO:equivalentTo Vascular anomaly or angioma semapv:UnspecifiedMatching -MONDO:0019066 obsolete syndrome with brachydactyly Orphanet:69028 MONDO:equivalentTo Dysostosis with brachydactyly semapv:UnspecifiedMatching -MONDO:0019096 obsolete rare pulmonary hypertension Orphanet:71198 MONDO:equivalentTo Rare pulmonary hypertension semapv:UnspecifiedMatching -MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly Orphanet:71202 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching -MONDO:0019099 obsolete rare soft tissue tumor Orphanet:71209 MONDO:equivalentTo Rare soft tissue tumor semapv:UnspecifiedMatching -MONDO:0019110 obsolete rare central nervous system or retinal vascular disease Orphanet:71281 MONDO:equivalentTo Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching -MONDO:0019117 obsolete genetic nervous system disorder Orphanet:71859 MONDO:equivalentTo Rare genetic neurological disorder semapv:UnspecifiedMatching -MONDO:0019183 obsolete inherited odontologic disease Orphanet:77830 MONDO:equivalentTo Rare genetic odontologic disease semapv:UnspecifiedMatching -MONDO:0019252 obsolete other metabolic disease with skin involvement Orphanet:79217 MONDO:equivalentTo Other metabolic disease with skin involvement semapv:UnspecifiedMatching -MONDO:0019271 obsolete acrokeratoderma Orphanet:79356 MONDO:equivalentTo Acrokeratoderma semapv:UnspecifiedMatching -MONDO:0019274 obsolete other epidermal disorder Orphanet:79359 MONDO:equivalentTo Other epidermal disorder semapv:UnspecifiedMatching -MONDO:0019275 obsolete other genetic epidermal disease Orphanet:79360 MONDO:equivalentTo Other genetic epidermal disease semapv:UnspecifiedMatching -MONDO:0019277 obsolete epidermal appendage anomaly Orphanet:79362 MONDO:equivalentTo Epidermal appendage anomaly semapv:UnspecifiedMatching -MONDO:0019281 obsolete isolated genetic hair shaft abnormality Orphanet:79366 MONDO:equivalentTo Isolated hair shaft abnormality semapv:UnspecifiedMatching -MONDO:0019282 obsolete syndromic hair shaft abnormality Orphanet:79367 MONDO:equivalentTo Syndromic hair shaft abnormality semapv:UnspecifiedMatching -MONDO:0019285 obsolete syndromic nail anomaly Orphanet:79370 MONDO:equivalentTo Syndromic nail anomaly semapv:UnspecifiedMatching -MONDO:0019286 obsolete sebaceous gland anomaly Orphanet:79372 MONDO:equivalentTo Sebaceous gland anomaly semapv:UnspecifiedMatching -MONDO:0019292 obsolete dermis elastic tissue disorder Orphanet:79378 MONDO:equivalentTo Dermis elastic tissue disorder semapv:UnspecifiedMatching -MONDO:0019298 obsolete rare urticaria Orphanet:79384 MONDO:equivalentTo Rare urticaria semapv:UnspecifiedMatching -MONDO:0019299 obsolete unclassified genetic skin disorder Orphanet:79385 MONDO:equivalentTo Unclassified genetic skin disorder semapv:UnspecifiedMatching -MONDO:0019300 obsolete rare skin tumor or hamartoma Orphanet:79386 MONDO:equivalentTo Rare skin tumor or hamartoma semapv:UnspecifiedMatching -MONDO:0019301 obsolete metabolic disease with skin involvement Orphanet:79387 MONDO:equivalentTo Metabolic disease with skin involvement semapv:UnspecifiedMatching -MONDO:0019304 obsolete rare photodermatosis Orphanet:79390 MONDO:equivalentTo Rare photodermatosis semapv:UnspecifiedMatching -MONDO:0019305 obsolete immune deficiency with skin involvement Orphanet:79391 MONDO:equivalentTo Immune deficiency with skin involvement semapv:UnspecifiedMatching -MONDO:0019491 obsolete rare intellectual disability Orphanet:87277 MONDO:equivalentTo Rare intellectual disability semapv:UnspecifiedMatching -MONDO:0019513 obsolete esophageal malformation Orphanet:88993 MONDO:equivalentTo Esophageal malformation semapv:UnspecifiedMatching -MONDO:0019515 obsolete rare dementia Orphanet:89043 MONDO:equivalentTo Rare dementia semapv:UnspecifiedMatching -MONDO:0019519 obsolete rare skin disease Orphanet:89826 MONDO:equivalentTo Rare skin disease semapv:UnspecifiedMatching -MONDO:0019546 obsolete other acquired skin disease Orphanet:90077 MONDO:equivalentTo Other acquired skin disease semapv:UnspecifiedMatching -MONDO:0019590 obsolete rare endocrine growth disease Orphanet:90692 MONDO:equivalentTo Rare endocrine growth disease semapv:UnspecifiedMatching -MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess Orphanet:90776 MONDO:equivalentTo 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching -MONDO:0019599 obsolete primary lipodystrophy Orphanet:90970 MONDO:equivalentTo Primary lipodystrophy semapv:UnspecifiedMatching -MONDO:0019602 obsolete other inborn metabolic disease Orphanet:91088 MONDO:equivalentTo Other metabolic disease semapv:UnspecifiedMatching -MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen Orphanet:91144 MONDO:equivalentTo 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching -MONDO:0019619 obsolete duplication of the esophagus Orphanet:91357 MONDO:equivalentTo Duplication of the esophagus semapv:UnspecifiedMatching -MONDO:0019684 obsolete rare bone disease Orphanet:93419 MONDO:equivalentTo Rare bone disease semapv:UnspecifiedMatching -MONDO:0019688 obsolete sulfation-related bone disorder Orphanet:93423 MONDO:equivalentTo Sulfation-related bone disorder semapv:UnspecifiedMatching -MONDO:0019689 obsolete perlecan-related bone disorder Orphanet:93424 MONDO:equivalentTo Perlecan-related bone disorder semapv:UnspecifiedMatching -MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia Orphanet:93429 MONDO:equivalentTo Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching -MONDO:0019704 obsolete primary bone dysplasia with decreased bone density Orphanet:93446 MONDO:equivalentTo Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching -MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization Orphanet:93447 MONDO:equivalentTo Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching -MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect Orphanet:93451 MONDO:equivalentTo Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching -MONDO:0019712 obsolete patellar dysostosis Orphanet:93455 MONDO:equivalentTo Patellar dysostosis semapv:UnspecifiedMatching -MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy Orphanet:93458 MONDO:equivalentTo Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching -MONDO:0019717 obsolete chromosomal disease with overgrowth Orphanet:93461 MONDO:equivalentTo Chromosomal disease with overgrowth semapv:UnspecifiedMatching -MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease Orphanet:93593 MONDO:equivalentTo Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching -MONDO:0019744 obsolete rare renal tubular disease Orphanet:93603 MONDO:equivalentTo Rare renal tubular disease semapv:UnspecifiedMatching -MONDO:0019747 obsolete hematological disorder with renal involvement Orphanet:93614 MONDO:equivalentTo Hematological disorder with renal involvement semapv:UnspecifiedMatching -MONDO:0019748 obsolete rare cause of hypertension Orphanet:93618 MONDO:equivalentTo Rare cause of hypertension semapv:UnspecifiedMatching -MONDO:0019749 obsolete rare renal tumor Orphanet:93619 MONDO:equivalentTo Rare renal tumor semapv:UnspecifiedMatching -MONDO:0019750 obsolete rare renal disease Orphanet:93626 MONDO:equivalentTo Rare renal disease semapv:UnspecifiedMatching -MONDO:0019800 obsolete chronic hepatic porphyria Orphanet:95161 MONDO:equivalentTo Chronic hepatic porphyria semapv:UnspecifiedMatching -MONDO:0019822 obsolete arterial duct anomaly Orphanet:95485 MONDO:equivalentTo Arterial duct anomaly semapv:UnspecifiedMatching -MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency Orphanet:95495 MONDO:equivalentTo Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching -MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin Orphanet:95503 MONDO:equivalentTo Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching -MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin Orphanet:95505 MONDO:equivalentTo Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching -MONDO:0019841 obsolete pituitary hormone defiency from vascular origin Orphanet:95611 MONDO:equivalentTo Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching -MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease Orphanet:95617 MONDO:equivalentTo Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching -MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease Orphanet:95618 MONDO:equivalentTo Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching -MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly Orphanet:95714 MONDO:equivalentTo Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching -MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism Orphanet:95718 MONDO:equivalentTo Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching -MONDO:0019936 obsolete rare otorhinolaryngological malformation Orphanet:96333 MONDO:equivalentTo Rare otorhinolaryngological malformation semapv:UnspecifiedMatching -MONDO:0019937 obsolete rare gynecologic or obstetric disease Orphanet:96344 MONDO:equivalentTo Rare gynecologic or obstetric disease semapv:UnspecifiedMatching -MONDO:0019965 obsolete rare benign ovarian tumor Orphanet:97293 MONDO:equivalentTo Rare benign ovarian tumor semapv:UnspecifiedMatching -MONDO:0019996 obsolete rare cardiac disease Orphanet:97929 MONDO:equivalentTo Rare cardiac disease semapv:UnspecifiedMatching -MONDO:0019997 obsolete rare gastroenterologic disease Orphanet:97935 MONDO:equivalentTo Rare gastroenterologic disease semapv:UnspecifiedMatching -MONDO:0019998 obsolete gastroduodenal malformation Orphanet:97944 MONDO:equivalentTo Gastroduodenal malformation semapv:UnspecifiedMatching -MONDO:0020000 obsolete rare respiratory disease Orphanet:97955 MONDO:equivalentTo Rare respiratory disease semapv:UnspecifiedMatching -MONDO:0020002 obsolete rare surgical thoracic disease Orphanet:97962 MONDO:equivalentTo Rare surgical thoracic disease semapv:UnspecifiedMatching -MONDO:0020003 obsolete rare surgical cardiac disease Orphanet:97965 MONDO:equivalentTo Rare surgical cardiac disease semapv:UnspecifiedMatching -MONDO:0020004 obsolete rare eye disease Orphanet:97966 MONDO:equivalentTo Rare ophthalmic disorder semapv:UnspecifiedMatching -MONDO:0020005 obsolete rare endocrine disease Orphanet:97978 MONDO:equivalentTo Rare endocrine disease semapv:UnspecifiedMatching -MONDO:0020008 obsolete rare immune disease Orphanet:98004 MONDO:equivalentTo Rare immune disease semapv:UnspecifiedMatching -MONDO:0020009 obsolete rare neurologic disease Orphanet:98006 MONDO:equivalentTo Rare neurologic disease semapv:UnspecifiedMatching -MONDO:0020011 obsolete rare headache disorder Orphanet:98022 MONDO:equivalentTo Rare headache semapv:UnspecifiedMatching -MONDO:0020013 obsolete rare odontologic disease Orphanet:98026 MONDO:equivalentTo Rare odontologic disease semapv:UnspecifiedMatching -MONDO:0020014 obsolete rare disease with odontological manifestation Orphanet:98027 MONDO:equivalentTo Rare disease with odontological manifestation semapv:UnspecifiedMatching -MONDO:0020015 obsolete rare circulatory system disease Orphanet:98028 MONDO:equivalentTo Rare circulatory system disease semapv:UnspecifiedMatching -MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement Orphanet:98033 MONDO:equivalentTo Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching -MONDO:0020017 obsolete rare otorhinolaryngologic disease Orphanet:98036 MONDO:equivalentTo Rare otorhinolaryngologic disease semapv:UnspecifiedMatching -MONDO:0020018 obsolete cranial malformation Orphanet:98038 MONDO:equivalentTo Cranial malformation semapv:UnspecifiedMatching -MONDO:0020019 obsolete digestive tract malformation Orphanet:98039 MONDO:equivalentTo Digestive tract malformation semapv:UnspecifiedMatching -MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen Orphanet:98041 MONDO:equivalentTo Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching -MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation Orphanet:98043 MONDO:equivalentTo Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching -MONDO:0020023 obsolete respiratory or mediastinal malformation Orphanet:98045 MONDO:equivalentTo Respiratory or mediastinal malformation semapv:UnspecifiedMatching -MONDO:0020024 obsolete rare infertility Orphanet:98047 MONDO:equivalentTo Rare infertility semapv:UnspecifiedMatching -MONDO:0020025 obsolete rare male infertility Orphanet:98048 MONDO:equivalentTo Rare male infertility semapv:UnspecifiedMatching -MONDO:0020026 obsolete rare female infertility Orphanet:98049 MONDO:equivalentTo Rare female infertility semapv:UnspecifiedMatching -MONDO:0020027 obsolete rare allergic disease Orphanet:98050 MONDO:equivalentTo Rare allergic disease semapv:UnspecifiedMatching -MONDO:0020028 obsolete rare allergic respiratory disease Orphanet:98052 MONDO:equivalentTo Rare allergic respiratory disease semapv:UnspecifiedMatching -MONDO:0020029 obsolete rare genetic cardiac disease Orphanet:98054 MONDO:equivalentTo Rare genetic cardiac disease semapv:UnspecifiedMatching -MONDO:0020030 obsolete rare genetic renal disease Orphanet:98056 MONDO:equivalentTo Rare genetic renal disease semapv:UnspecifiedMatching -MONDO:0020032 obsolete rare urinary tract tumor Orphanet:98058 MONDO:equivalentTo Rare urinary tract tumor semapv:UnspecifiedMatching -MONDO:0020033 obsolete rare digestive tumor Orphanet:98059 MONDO:equivalentTo Rare digestive tumor semapv:UnspecifiedMatching -MONDO:0020034 obsolete rare respiratory tract neoplasm Orphanet:98060 MONDO:equivalentTo Rare respiratory tumor semapv:UnspecifiedMatching -MONDO:0020035 obsolete rare otorhinolaryngologic tumor Orphanet:98061 MONDO:equivalentTo Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching -MONDO:0020036 obsolete rare nervous system tumor Orphanet:98062 MONDO:equivalentTo Rare nervous system tumor semapv:UnspecifiedMatching -MONDO:0020037 obsolete rare gynecological tumor Orphanet:98063 MONDO:equivalentTo Rare gynecological tumor semapv:UnspecifiedMatching -MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest Orphanet:98074 MONDO:equivalentTo Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching -MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess Orphanet:98078 MONDO:equivalentTo 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching -MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development Orphanet:98087 MONDO:equivalentTo Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching -MONDO:0020051 obsolete total autosomal trisomy Orphanet:98131 MONDO:equivalentTo Total autosomal trisomy semapv:UnspecifiedMatching -MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy Orphanet:98132 MONDO:equivalentTo Partial autosomal duplication/triplication semapv:UnspecifiedMatching -MONDO:0020053 obsolete total autosomal monosomy Orphanet:98141 MONDO:equivalentTo Total autosomal monosomy semapv:UnspecifiedMatching -MONDO:0020055 obsolete autosomal uniparental disomy Orphanet:98152 MONDO:equivalentTo Autosomal uniparental disomy semapv:UnspecifiedMatching -MONDO:0020059 obsolete gonosome number anomaly Orphanet:98156 MONDO:equivalentTo Sex-chromosome number anomaly semapv:UnspecifiedMatching -MONDO:0020060 obsolete gonosome structural anomaly Orphanet:98157 MONDO:equivalentTo Sex-chromosome structural anomaly semapv:UnspecifiedMatching -MONDO:0020062 obsolete chromosome X structural anomaly Orphanet:98159 MONDO:equivalentTo Chromosome X structural anomaly semapv:UnspecifiedMatching -MONDO:0020063 obsolete malformation syndrome with hamartosis Orphanet:98196 MONDO:equivalentTo Malformation syndrome with hamartosis semapv:UnspecifiedMatching -MONDO:0020069 obsolete chronic encephalitis Orphanet:98255 MONDO:equivalentTo Chronic encephalitis semapv:UnspecifiedMatching -MONDO:0020090 obsolete male infertility due to gonadal dysgenesis Orphanet:98313 MONDO:equivalentTo Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching -MONDO:0020091 obsolete male infertility due to obstructive azoospermia Orphanet:98343 MONDO:equivalentTo Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching -MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma Orphanet:98349 MONDO:equivalentTo Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching -MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature Orphanet:98352 MONDO:equivalentTo Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching -MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature Orphanet:98353 MONDO:equivalentTo Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching -MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma Orphanet:98356 MONDO:equivalentTo Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching -MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature Orphanet:98357 MONDO:equivalentTo Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching -MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder Orphanet:98360 MONDO:equivalentTo Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching -MONDO:0020100 obsolete rare hemolytic anemia Orphanet:98363 MONDO:equivalentTo Rare hemolytic anemia semapv:UnspecifiedMatching -MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect Orphanet:98364 MONDO:equivalentTo Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching -MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder Orphanet:98369 MONDO:equivalentTo Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching -MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies Orphanet:98370 MONDO:equivalentTo Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching -MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder Orphanet:98396 MONDO:equivalentTo Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching -MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder Orphanet:98408 MONDO:equivalentTo Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching -MONDO:0020116 obsolete rare blood coagulation disease Orphanet:98429 MONDO:equivalentTo Rare coagulation disorder semapv:UnspecifiedMatching -MONDO:0020125 obsolete acquired neuromuscular junction disease Orphanet:98494 MONDO:equivalentTo Acquired neuromuscular junction disease semapv:UnspecifiedMatching -MONDO:0020126 obsolete rare peripheral neuropathy Orphanet:98496 MONDO:equivalentTo Rare peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0020130 obsolete malformation of the cerebellar vermis Orphanet:98514 MONDO:equivalentTo Malformation of the cerebellar vermis semapv:UnspecifiedMatching -MONDO:0020131 obsolete malformation of the cerebellar hemispheres Orphanet:98516 MONDO:equivalentTo Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching -MONDO:0020132 obsolete cranial nerve and nuclear aplasia Orphanet:98518 MONDO:equivalentTo Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching -MONDO:0020133 obsolete posterior fossa malformation Orphanet:98519 MONDO:equivalentTo Posterior fossa malformation semapv:UnspecifiedMatching -MONDO:0020136 obsolete neurodegenerative disease with dementia Orphanet:98534 MONDO:equivalentTo Neurodegenerative disease with dementia semapv:UnspecifiedMatching -MONDO:0020137 obsolete frontotemporal degeneration with dementia Orphanet:98535 MONDO:equivalentTo Frontotemporal degeneration with dementia semapv:UnspecifiedMatching -MONDO:0020138 obsolete ataxia with dementia Orphanet:98538 MONDO:equivalentTo Ataxia with dementia semapv:UnspecifiedMatching -MONDO:0020139 obsolete early-onset ataxia with dementia Orphanet:98539 MONDO:equivalentTo Early-onset ataxia with dementia semapv:UnspecifiedMatching -MONDO:0020140 obsolete late-onset ataxia with dementia Orphanet:98540 MONDO:equivalentTo Late-onset ataxia with dementia semapv:UnspecifiedMatching -MONDO:0020141 obsolete infectious disease with dementia Orphanet:98542 MONDO:equivalentTo Infectious disease with dementia semapv:UnspecifiedMatching -MONDO:0020142 obsolete metabolic disease with dementia Orphanet:98543 MONDO:equivalentTo Metabolic disease with dementia semapv:UnspecifiedMatching -MONDO:0020144 obsolete cerebrovascular dementia Orphanet:98549 MONDO:equivalentTo Rare cerebrovascular dementia semapv:UnspecifiedMatching -MONDO:0020148 obsolete syndromic aniridia Orphanet:98557 MONDO:equivalentTo Syndromic aniridia semapv:UnspecifiedMatching -MONDO:0020151 obsolete rare palpebral disease Orphanet:98560 MONDO:equivalentTo Rare palpebral disorder semapv:UnspecifiedMatching -MONDO:0020152 obsolete rare eyelid malformation Orphanet:98561 MONDO:equivalentTo Congenital malformation of the eyelid semapv:UnspecifiedMatching -MONDO:0020154 obsolete microblepharon-ablephara syndrome Orphanet:98563 MONDO:equivalentTo Microblepharon-ablephara syndrome semapv:UnspecifiedMatching -MONDO:0020155 obsolete eyelid border anomaly Orphanet:98564 MONDO:equivalentTo Eyelid border anomaly semapv:UnspecifiedMatching -MONDO:0020156 obsolete syndromic ankyloblepharon Orphanet:98565 MONDO:equivalentTo Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching -MONDO:0020157 obsolete syndromic palpebral coloboma Orphanet:98566 MONDO:equivalentTo Syndromic eyelid coloboma semapv:UnspecifiedMatching -MONDO:0020158 obsolete eyelids malposition disorder Orphanet:98567 MONDO:equivalentTo Rare eyelid malposition disorder semapv:UnspecifiedMatching -MONDO:0020162 obsolete secondary ectropion Orphanet:98571 MONDO:equivalentTo Secondary ectropion semapv:UnspecifiedMatching -MONDO:0020165 obsolete syndromic epicanthus Orphanet:98574 MONDO:equivalentTo Syndromic epicanthus semapv:UnspecifiedMatching -MONDO:0020167 obsolete malposition of external canthus Orphanet:98576 MONDO:equivalentTo Syndromic outer canthal malposition semapv:UnspecifiedMatching -MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly Orphanet:98594 MONDO:equivalentTo Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching -MONDO:0020192 obsolete rare lacrimal system disease Orphanet:98602 MONDO:equivalentTo Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching -MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly Orphanet:98605 MONDO:equivalentTo Lacrimal drainage system anomaly semapv:UnspecifiedMatching -MONDO:0020197 obsolete EEC syndrome and related syndrome Orphanet:98609 MONDO:equivalentTo EEC syndrome and related disorders semapv:UnspecifiedMatching -MONDO:0020198 obsolete rare conjunctival disease Orphanet:98610 MONDO:equivalentTo Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching -MONDO:0020206 obsolete rare refraction anomaly Orphanet:98618 MONDO:equivalentTo Rare refraction anomaly semapv:UnspecifiedMatching -MONDO:0020209 obsolete rare hyperopia and astigmatism Orphanet:98621 MONDO:equivalentTo Rare hyperopia and astigmatism semapv:UnspecifiedMatching -MONDO:0020210 obsolete syndromic hyperopia Orphanet:98622 MONDO:equivalentTo Syndromic hyperopia semapv:UnspecifiedMatching -MONDO:0020211 obsolete syndromic keratoconus Orphanet:98623 MONDO:equivalentTo Syndromic keratoconus semapv:UnspecifiedMatching -MONDO:0020216 obsolete secondary dysgenetic glaucoma Orphanet:98631 MONDO:equivalentTo Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching -MONDO:0020219 obsolete corneogoniodysgenesis Orphanet:98635 MONDO:equivalentTo Corneodysgenesis semapv:UnspecifiedMatching -MONDO:0020222 obsolete rare disease with glaucoma as a major feature Orphanet:98638 MONDO:equivalentTo Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching -MONDO:0020223 obsolete lens and zonula anomaly Orphanet:98639 MONDO:equivalentTo Rare lens disease semapv:UnspecifiedMatching -MONDO:0020224 obsolete rare cataract Orphanet:98640 MONDO:equivalentTo Rare disorder with lens opacification semapv:UnspecifiedMatching -MONDO:0020225 obsolete syndromic cataract Orphanet:98641 MONDO:equivalentTo Syndromic cataract semapv:UnspecifiedMatching -MONDO:0020226 obsolete chromosomal anomaly with cataract Orphanet:98642 MONDO:equivalentTo Chromosomal anomaly with cataract semapv:UnspecifiedMatching -MONDO:0020228 obsolete cataract associated with a metabolic disease Orphanet:98644 MONDO:equivalentTo Metabolic disease with cataract semapv:UnspecifiedMatching -MONDO:0020230 obsolete renal disease with cataract Orphanet:98646 MONDO:equivalentTo Renal disease with cataract semapv:UnspecifiedMatching -MONDO:0020232 obsolete musculoskeletal disease with cataract Orphanet:98648 MONDO:equivalentTo Musculoskeletal disease with cataract semapv:UnspecifiedMatching -MONDO:0020233 obsolete dentocutaneous disease with cataract Orphanet:98649 MONDO:equivalentTo Dentocutaneous disease with cataract semapv:UnspecifiedMatching -MONDO:0020234 obsolete craniofacial anomaly with cataract Orphanet:98650 MONDO:equivalentTo Craniofacial anomaly with cataract semapv:UnspecifiedMatching -MONDO:0020235 obsolete lens size anomaly Orphanet:98652 MONDO:equivalentTo Lens size anomaly semapv:UnspecifiedMatching -MONDO:0020236 obsolete lens position anomaly Orphanet:98653 MONDO:equivalentTo Lens position anomaly semapv:UnspecifiedMatching -MONDO:0020237 obsolete lens shape anomaly Orphanet:98655 MONDO:equivalentTo Lens shape anomaly semapv:UnspecifiedMatching -MONDO:0020240 obsolete syndromic retinitis pigmentosa Orphanet:98661 MONDO:equivalentTo Syndromic rod-cone dystrophy semapv:UnspecifiedMatching -MONDO:0020251 obsolete rare strabismus and restriction syndrome Orphanet:98681 MONDO:equivalentTo Rare disorder with strabismus semapv:UnspecifiedMatching -MONDO:0020253 obsolete syndrome with a symptomatic strabismus Orphanet:98683 MONDO:equivalentTo Syndromic disorder with strabismus semapv:UnspecifiedMatching -MONDO:0020254 obsolete craniostenosis associated with a strabismus Orphanet:98684 MONDO:equivalentTo Craniostenosis with strabismus semapv:UnspecifiedMatching -MONDO:0020284 obsolete heart position anomaly Orphanet:98716 MONDO:equivalentTo Heart position anomaly semapv:UnspecifiedMatching -MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly Orphanet:98717 MONDO:equivalentTo Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching -MONDO:0020286 obsolete aortic malformation Orphanet:98718 MONDO:equivalentTo Aortic malformation semapv:UnspecifiedMatching -MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly Orphanet:98719 MONDO:equivalentTo Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching -MONDO:0020288 obsolete atrioventricular valve anomaly Orphanet:98720 MONDO:equivalentTo Atrioventricular valve anomaly semapv:UnspecifiedMatching -MONDO:0020293 obsolete ascending aorta anomaly Orphanet:98725 MONDO:equivalentTo Ascending aorta anomaly semapv:UnspecifiedMatching -MONDO:0020294 obsolete atrial defect and interatrial communication Orphanet:98727 MONDO:equivalentTo Rare atrial defect and interatrial communication semapv:UnspecifiedMatching -MONDO:0020339 obsolete X-linked complex spastic paraplegia Orphanet:98888 MONDO:equivalentTo X-linked complex spastic paraplegia semapv:UnspecifiedMatching -MONDO:0020343 obsolete alpha-crystallinopathy Orphanet:98910 MONDO:equivalentTo Alpha-crystallinopathy semapv:UnspecifiedMatching -MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency Orphanet:101960 MONDO:equivalentTo Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching -MONDO:0021027 obsolete genetic hair anomaly Orphanet:183450 MONDO:equivalentTo Genetic hair anomaly semapv:UnspecifiedMatching -MONDO:0021028 obsolete genetic nail anomaly Orphanet:183454 MONDO:equivalentTo Genetic nail anomaly semapv:UnspecifiedMatching -MONDO:0021034 obsolete hereditary alopecia Orphanet:481771 MONDO:equivalentTo Genetic alopecia semapv:UnspecifiedMatching -MONDO:0021037 obsolete genetic neurodegenerative disease with dementia Orphanet:276058 MONDO:equivalentTo Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching -MONDO:0021198 obsolete rare genetic disease Orphanet:98053 MONDO:equivalentTo Rare genetic disease semapv:UnspecifiedMatching -MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Orphanet:156168 MONDO:equivalentTo Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching -MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene Orphanet:156174 MONDO:equivalentTo Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching -MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene Orphanet:156177 MONDO:equivalentTo Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching -MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene Orphanet:156180 MONDO:equivalentTo Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching -MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene Orphanet:156183 MONDO:equivalentTo Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching -MONDO:0022409 obsolete nephropathy-associated ciliopathy Orphanet:156162 MONDO:equivalentTo Renal ciliopathy semapv:UnspecifiedMatching -MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease Orphanet:138041 MONDO:equivalentTo Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching -MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly Orphanet:138047 MONDO:equivalentTo Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching -MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies Orphanet:138050 MONDO:equivalentTo Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching -MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease Orphanet:138055 MONDO:equivalentTo Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching -MONDO:0024471 obsolete non-inflammatory vasculopathy Orphanet:496924 MONDO:equivalentTo Non-inflammatory vasculopathy semapv:UnspecifiedMatching -MONDO:0024987 obsolete genetic urogenital tract malformation Orphanet:156622 MONDO:equivalentTo Genetic urogenital tract malformation semapv:UnspecifiedMatching -MONDO:0025511 obsolete inherited neuroendocrine tumor Orphanet:271847 MONDO:equivalentTo Genetic neuroendocrine tumor semapv:UnspecifiedMatching -MONDO:0026141 obsolete genetic urticaria Orphanet:182734 MONDO:equivalentTo Genetic urticaria semapv:UnspecifiedMatching -MONDO:0026150 obsolete genetic erythrokeratoderma Orphanet:183438 MONDO:equivalentTo Genetic erythrokeratoderma semapv:UnspecifiedMatching -MONDO:0026151 obsolete genetic acrokeratoderma Orphanet:183441 MONDO:equivalentTo Genetic acrokeratoderma semapv:UnspecifiedMatching -MONDO:0026152 obsolete genetic porokeratosis Orphanet:183444 MONDO:equivalentTo Genetic porokeratosis semapv:UnspecifiedMatching -MONDO:0026157 obsolete genetic pigmentation anomaly of the skin Orphanet:183463 MONDO:equivalentTo Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching -MONDO:0026160 obsolete genetic dermis disorder Orphanet:183472 MONDO:equivalentTo Genetic dermis disorder semapv:UnspecifiedMatching -MONDO:0026166 obsolete genetic immune deficiency with skin involvement Orphanet:183494 MONDO:equivalentTo Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching -MONDO:0026167 obsolete genetic neuromuscular disease Orphanet:183497 MONDO:equivalentTo Genetic neuromuscular disease semapv:UnspecifiedMatching -MONDO:0026170 obsolete genetic central nervous system malformation Orphanet:183506 MONDO:equivalentTo Genetic central nervous system malformation semapv:UnspecifiedMatching -MONDO:0026173 obsolete rare genetic medullar disease Orphanet:183515 MONDO:equivalentTo Rare genetic medullar disease semapv:UnspecifiedMatching -MONDO:0026180 obsolete genetic congenital limb malformation Orphanet:183536 MONDO:equivalentTo Genetic congenital limb malformation semapv:UnspecifiedMatching -MONDO:0026181 obsolete genetic renal or urinary tract malformation Orphanet:183539 MONDO:equivalentTo Genetic renal or urinary tract malformation semapv:UnspecifiedMatching -MONDO:0026182 obsolete genetic cranial malformation Orphanet:183542 MONDO:equivalentTo Genetic cranial malformation semapv:UnspecifiedMatching -MONDO:0026183 obsolete genetic digestive tract malformation Orphanet:183545 MONDO:equivalentTo Genetic digestive tract malformation semapv:UnspecifiedMatching -MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen Orphanet:183548 MONDO:equivalentTo Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching -MONDO:0026185 obsolete genetic respiratory or mediastinal malformation Orphanet:183554 MONDO:equivalentTo Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching -MONDO:0026186 obsolete genetic developmental defect of the eye Orphanet:183557 MONDO:equivalentTo Genetic developmental defect of the eye semapv:UnspecifiedMatching -MONDO:0026187 obsolete genetic malformation syndrome with short stature Orphanet:183570 MONDO:equivalentTo Genetic malformation syndrome with short stature semapv:UnspecifiedMatching -MONDO:0026188 obsolete genetic overgrowth/obesity syndrome Orphanet:183573 MONDO:equivalentTo Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching -MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome Orphanet:183576 MONDO:equivalentTo Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching -MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component Orphanet:183580 MONDO:equivalentTo Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching -MONDO:0026192 obsolete genetic glomerular disease Orphanet:183586 MONDO:equivalentTo Genetic glomerular disease semapv:UnspecifiedMatching -MONDO:0026193 obsolete genetic thrombotic microangiopathy Orphanet:183589 MONDO:equivalentTo Genetic thrombotic microangiopathy semapv:UnspecifiedMatching -MONDO:0026203 obsolete genetic respiratory malformation Orphanet:183622 MONDO:equivalentTo Genetic respiratory malformation semapv:UnspecifiedMatching -MONDO:0026209 obsolete genetic polyendocrinopathy Orphanet:183643 MONDO:equivalentTo Genetic polyendocrinopathy semapv:UnspecifiedMatching -MONDO:0027652 5-fluorouracil toxicity Orphanet:240839 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0027653 abacavir toxicity Orphanet:240841 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0027655 allopurinol toxicity Orphanet:240845 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0027664 cisplatin toxicity Orphanet:240863 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0027666 codeine toxicity Orphanet:240867 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0027667 efavirenz toxicity Orphanet:240869 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0027668 flucloxacilline toxicity Orphanet:240871 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0027675 irinotecan toxicity Orphanet:240885 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0027677 isoniazid toxicity Orphanet:240887 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0027687 raltegravir toxicity Orphanet:240905 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0027696 voriconazole toxicity Orphanet:240921 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization Orphanet:250808 MONDO:equivalentTo Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching -MONDO:0027751 obsolete serpinopathy with loss of serpin function Orphanet:250811 MONDO:equivalentTo Serpinopathy with loss of serpin function semapv:UnspecifiedMatching -MONDO:0027929 obsolete genetic polycythemia Orphanet:250165 MONDO:equivalentTo Genetic polycythemia semapv:UnspecifiedMatching -MONDO:0028569 obsolete genetic interstitial lung disease Orphanet:264992 MONDO:equivalentTo Genetic interstitial lung disease semapv:UnspecifiedMatching -MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm Orphanet:481508 MONDO:equivalentTo Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching -MONDO:0028737 obsolete biliary atresia disorder Orphanet:498345 MONDO:equivalentTo Biliary atresia and associated disorders semapv:UnspecifiedMatching -MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease Orphanet:271870 MONDO:equivalentTo Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching -MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia Orphanet:276061 MONDO:equivalentTo Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching -MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood Orphanet:280342 MONDO:equivalentTo Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching -MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs Orphanet:281244 MONDO:equivalentTo Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching -MONDO:0029810 obsolete laminopathy with striated muscle involvement Orphanet:300755 MONDO:equivalentTo Laminopathy with striated muscle involvement semapv:UnspecifiedMatching -MONDO:0029811 obsolete laminopathy with peripheral neuropathy Orphanet:300758 MONDO:equivalentTo Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0029812 obsolete laminopathy with lipodystrophy Orphanet:300763 MONDO:equivalentTo Laminopathy with lipodystrophy semapv:UnspecifiedMatching -MONDO:0029813 obsolete laminopathy with premature aging Orphanet:300766 MONDO:equivalentTo Laminopathy with premature aging semapv:UnspecifiedMatching -MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues Orphanet:322126 MONDO:equivalentTo Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching -MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest Orphanet:325665 MONDO:equivalentTo Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching -MONDO:0031016 obsolete genetic disorder of sex development Orphanet:325690 MONDO:equivalentTo Genetic difference of sex development semapv:UnspecifiedMatching -MONDO:0031689 obsolete genetic progeroid syndrome Orphanet:363245 MONDO:equivalentTo Genetic progeroid syndrome semapv:UnspecifiedMatching -MONDO:0031697 obsolete genetic intractable diarrhea of infancy Orphanet:363300 MONDO:equivalentTo Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching -MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption Orphanet:363306 MONDO:equivalentTo Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching -MONDO:0031949 obsolete genetic neurovascular malformation Orphanet:371436 MONDO:equivalentTo Genetic neurovascular malformation semapv:UnspecifiedMatching -MONDO:0031952 obsolete genetic syndromic esophageal malformation Orphanet:371445 MONDO:equivalentTo Genetic syndromic esophageal malformation semapv:UnspecifiedMatching -MONDO:0032011 obsolete biological anomaly Orphanet:377790 MONDO:equivalentTo Biological anomaly semapv:UnspecifiedMatching -MONDO:0032013 obsolete clinical syndrome Orphanet:377792 MONDO:equivalentTo Clinical syndrome semapv:UnspecifiedMatching -MONDO:0032014 obsolete particular clinical situation in a disease or syndrome Orphanet:377793 MONDO:equivalentTo Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching -MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism Orphanet:399846 MONDO:equivalentTo Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching -MONDO:0033056 obsolete genetic facial cleft Orphanet:414726 MONDO:equivalentTo Genetic facial cleft semapv:UnspecifiedMatching -MONDO:0033169 curariform drugs toxicity Orphanet:413693 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0033170 statin toxicity Orphanet:413696 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0033181 phenytoin or carbamazepine toxicity Orphanet:414750 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0033329 obsolete genetic precocious puberty Orphanet:435554 MONDO:equivalentTo Genetic precocious puberty semapv:UnspecifiedMatching -MONDO:0033331 obsolete genetic precocious puberty in female Orphanet:435564 MONDO:equivalentTo Genetic precocious puberty in female semapv:UnspecifiedMatching -MONDO:0033334 obsolete genetic nose and cavum anomaly Orphanet:435606 MONDO:equivalentTo Genetic nose and cavum anomaly semapv:UnspecifiedMatching -MONDO:0033335 obsolete genetic larynx anomaly Orphanet:435609 MONDO:equivalentTo Genetic larynx anomaly semapv:UnspecifiedMatching -MONDO:0033336 obsolete genetic tracheal anomaly Orphanet:435612 MONDO:equivalentTo Genetic tracheal anomaly semapv:UnspecifiedMatching -MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies Orphanet:459537 MONDO:equivalentTo Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching -MONDO:0034039 obsolete genetic hemoglobinopathy Orphanet:466066 MONDO:equivalentTo Genetic hemoglobinopathy semapv:UnspecifiedMatching -MONDO:0034443 obsolete genetic non-acquired premature ovarian failure Orphanet:485382 MONDO:equivalentTo Genetic premature ovarian failure semapv:UnspecifiedMatching -MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder Orphanet:496916 MONDO:equivalentTo Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching -MONDO:0034661 obsolete syndromic biliary atresia Orphanet:498350 MONDO:equivalentTo Syndromic biliary atresia semapv:UnspecifiedMatching -MONDO:0034667 obsolete longitudinal limb defect Orphanet:498457 MONDO:equivalentTo Longitudinal limb defect semapv:UnspecifiedMatching -MONDO:0034668 obsolete terminal transverse limb defect Orphanet:498461 MONDO:equivalentTo Terminal transverse limb defect semapv:UnspecifiedMatching -MONDO:0034669 obsolete non-syndromic preaxial polydactyly Orphanet:498464 MONDO:equivalentTo Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching -MONDO:0034670 obsolete non-syndromic postaxial polydactyly Orphanet:498467 MONDO:equivalentTo Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching -MONDO:0034671 obsolete non-syndromic complex polydactyly Orphanet:498470 MONDO:equivalentTo Non-syndromic complex polydactyly semapv:UnspecifiedMatching -MONDO:0034733 obsolete cochlear nerve deficiency Orphanet:502318 MONDO:equivalentTo Cochlear nerve deficiency semapv:UnspecifiedMatching -MONDO:0034901 obsolete ATP13A2-related parkinsonism Orphanet:514980 MONDO:equivalentTo ATP13A2-related parkinsonism semapv:UnspecifiedMatching -MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system Orphanet:519264 MONDO:equivalentTo Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching -MONDO:0034926 obsolete rare disorder with entropion Orphanet:519270 MONDO:equivalentTo Rare disorder with entropion semapv:UnspecifiedMatching -MONDO:0034931 obsolete rare conjunctivitis Orphanet:519280 MONDO:equivalentTo Rare conjunctivitis semapv:UnspecifiedMatching -MONDO:0034937 obsolete syndromic ectopia lentis Orphanet:519292 MONDO:equivalentTo Syndromic ectopia lentis semapv:UnspecifiedMatching -MONDO:0034943 obsolete isolated vitreoretinopathy Orphanet:519304 MONDO:equivalentTo Isolated vitreoretinopathy semapv:UnspecifiedMatching -MONDO:0034953 obsolete syndromic inherited retinal disorder Orphanet:519325 MONDO:equivalentTo Syndromic inherited retinal disorder semapv:UnspecifiedMatching -MONDO:0034954 obsolete syndromic vitreoretinopathy Orphanet:519327 MONDO:equivalentTo Syndromic vitreoretinopathy semapv:UnspecifiedMatching -MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature Orphanet:519341 MONDO:equivalentTo Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching -MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement Orphanet:519343 MONDO:equivalentTo Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching -MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement Orphanet:519349 MONDO:equivalentTo Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching -MONDO:0034968 obsolete rare ocular motility/alignment disorder Orphanet:519355 MONDO:equivalentTo Rare ocular motility/alignment disorder semapv:UnspecifiedMatching -MONDO:0034977 obsolete isolated microspherophakia Orphanet:519396 MONDO:equivalentTo Isolated microspherophakia semapv:UnspecifiedMatching -MONDO:0035001 obsolete rare disorder of the visual organs Orphanet:520814 MONDO:equivalentTo Rare disorder of the visual organs semapv:UnspecifiedMatching -MONDO:0035002 obsolete isolated inherited retinal disorder Orphanet:520817 MONDO:equivalentTo Isolated inherited retinal disorder semapv:UnspecifiedMatching -MONDO:0035013 obsolete genetic primary orthostatic disorder Orphanet:521232 MONDO:equivalentTo Genetic primary orthostatic disorder semapv:UnspecifiedMatching -MONDO:0035014 obsolete primary orthostatic disorder Orphanet:521236 MONDO:equivalentTo Primary orthostatic disorder semapv:UnspecifiedMatching -MONDO:0035037 obsolete rare genetic disorder of the visual organs Orphanet:522504 MONDO:equivalentTo Rare genetic disorder of the visual organs semapv:UnspecifiedMatching -MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin Orphanet:522580 MONDO:equivalentTo Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching -MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome Orphanet:530313 MONDO:equivalentTo PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching -MONDO:0035274 obsolete anomaly of the coronary ostia Orphanet:542822 MONDO:equivalentTo Anomaly of the coronary ostia semapv:UnspecifiedMatching -MONDO:0035328 obsolete rare disorder due to poisoning Orphanet:556508 MONDO:equivalentTo Rare disorder due to poisoning semapv:UnspecifiedMatching -MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation Orphanet:565779 MONDO:equivalentTo Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching -MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement Orphanet:568041 MONDO:equivalentTo Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching -MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement Orphanet:568044 MONDO:equivalentTo Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching -MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema Orphanet:568047 MONDO:equivalentTo Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching -MONDO:0035561 obsolete sporadic human prion disease Orphanet:576356 MONDO:equivalentTo Sporadic human prion disease semapv:UnspecifiedMatching -MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome Orphanet:589746 MONDO:equivalentTo Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching -MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome Orphanet:595216 MONDO:equivalentTo Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching -MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement Orphanet:595346 MONDO:equivalentTo Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching -MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement Orphanet:595351 MONDO:equivalentTo Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching -MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone Orphanet:596426 MONDO:equivalentTo Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching -MONDO:0035786 obsolete non-syndromic cloacal malformation Orphanet:600998 MONDO:equivalentTo Non-syndromic cloacal malformation semapv:UnspecifiedMatching -MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome Orphanet:611314 MONDO:equivalentTo Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching -MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability Orphanet:611327 MONDO:equivalentTo Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching -MONDO:0035875 ivermectin toxicity Orphanet:574637 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0035876 belinostat toxicity or dose selection Orphanet:574671 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0036025 toxicity to dolutegravir Orphanet:596744 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0037716 obsolete rare genetic deafness Orphanet:96210 MONDO:equivalentTo Rare genetic deafness semapv:UnspecifiedMatching -MONDO:0037860 obsolete rare systemic or rheumatologic disease Orphanet:98023 MONDO:equivalentTo Rare systemic or rheumatologic disease semapv:UnspecifiedMatching -MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system Orphanet:98743 MONDO:equivalentTo Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching -MONDO:0038268 obsolete autoimmune neurological channelopathy Orphanet:98750 MONDO:equivalentTo Autoimmune neurological channelopathy semapv:UnspecifiedMatching -MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome Orphanet:183533 MONDO:equivalentTo Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching -MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability Orphanet:330206 MONDO:equivalentTo Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching -MONDO:0044636 obsolete rare hyperkinetic movement disorder Orphanet:494457 MONDO:equivalentTo Rare hyperkinetic movement disorder semapv:UnspecifiedMatching -MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect Orphanet:497623 MONDO:equivalentTo C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching -MONDO:0800084 obsolete primary bone dysplasia with increased bone density Orphanet:93444 MONDO:equivalentTo Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching -MONDO:0800087 obsolete type 11 collagen-related bone disorder Orphanet:93422 MONDO:equivalentTo Type 11 collagen-related bone disorder semapv:UnspecifiedMatching -MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components Orphanet:93450 MONDO:equivalentTo Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching -MONDO:0800090 obsolete ectrodactyly with and without other manifestations Orphanet:498477 MONDO:equivalentTo Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching -MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement Orphanet:498448 MONDO:equivalentTo Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching -MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy Orphanet:498445 MONDO:equivalentTo Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching -MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations Orphanet:498451 MONDO:equivalentTo Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching -MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations Orphanet:498454 MONDO:equivalentTo Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching -MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect Orphanet:93459 MONDO:equivalentTo Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching -MONDO:0957001 obsolete hereditary mixed dermis disorder Orphanet:183481 MONDO:equivalentTo Genetic mixed dermis disorder semapv:UnspecifiedMatching -MONDO:0957009 obsolete hereditary posterior fossa malformation Orphanet:269557 MONDO:equivalentTo Genetic posterior fossa malformation semapv:UnspecifiedMatching -MONDO:0957024 obsolete hereditary 46,XX disorder of sex development Orphanet:325697 MONDO:equivalentTo Genetic 46,XX difference of sex development semapv:UnspecifiedMatching -MONDO:0957025 obsolete hereditary 46,XY disorder of sex development Orphanet:325706 MONDO:equivalentTo Genetic 46,XY difference of sex development semapv:UnspecifiedMatching -MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood Orphanet:324942 MONDO:equivalentTo Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching -MONDO:8000030 obsolete morphological anomaly Orphanet:377791 MONDO:equivalentTo Morphological anomaly semapv:UnspecifiedMatching -MONDO:8000031 obsolete subtype of a disorder Orphanet:557494 MONDO:equivalentTo subtype of a disorder semapv:UnspecifiedMatching -MONDO:8000033 obsolete group of disorders Orphanet:557492 MONDO:equivalentTo group of disorders semapv:UnspecifiedMatching +MONDO:0015076 obsolete rare parathyroid tumor Orphanet:100090 MONDO:equivalentTo Rare parathyroid tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015081 obsolete neuroendocrine tumor with other location Orphanet:100101 MONDO:equivalentTo Neuroendocrine tumor with other location semapv:UnspecifiedMatching 0.5 +MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia Orphanet:100980 MONDO:equivalentTo Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching 0.5 +MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia Orphanet:100981 MONDO:equivalentTo Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching 0.5 +MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia Orphanet:100982 MONDO:equivalentTo Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching 0.5 +MONDO:0015106 obsolete rare urogenital disease Orphanet:101433 MONDO:equivalentTo Rare urogenital disease semapv:UnspecifiedMatching 0.5 +MONDO:0015107 obsolete rare genetic eye disease Orphanet:101435 MONDO:equivalentTo Rare genetic eye disease semapv:UnspecifiedMatching 0.5 +MONDO:0015110 obsolete genetic cardiac rhythm disease Orphanet:101934 MONDO:equivalentTo Genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 +MONDO:0015111 obsolete gastroesophageal disease Orphanet:101936 MONDO:equivalentTo Rare gastroesophageal disease semapv:UnspecifiedMatching 0.5 +MONDO:0015112 obsolete rare pancreatic disease Orphanet:101937 MONDO:equivalentTo Rare pancreatic disease semapv:UnspecifiedMatching 0.5 +MONDO:0015113 obsolete rare vascular liver disease Orphanet:101938 MONDO:equivalentTo Rare vascular liver disease semapv:UnspecifiedMatching 0.5 +MONDO:0015114 obsolete rare parenchymal liver disease Orphanet:101939 MONDO:equivalentTo Rare parenchymal liver disease semapv:UnspecifiedMatching 0.5 +MONDO:0015115 obsolete rare genetic metabolic liver disease Orphanet:101940 MONDO:equivalentTo Rare metabolic liver disease semapv:UnspecifiedMatching 0.5 +MONDO:0015116 obsolete rare biliary tract disease Orphanet:101941 MONDO:equivalentTo Rare biliary tract disease semapv:UnspecifiedMatching 0.5 +MONDO:0015117 obsolete rare hepatic and biliary tract tumor Orphanet:101943 MONDO:equivalentTo Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015118 obsolete rare pulmonary disease Orphanet:101944 MONDO:equivalentTo Rare pulmonary disease semapv:UnspecifiedMatching 0.5 +MONDO:0015119 obsolete bronchopulmonary tumor Orphanet:101945 MONDO:equivalentTo Rare bronchopulmonary tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015121 obsolete rare eye tumor Orphanet:101950 MONDO:equivalentTo Rare eye tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015122 obsolete rare diabetes mellitus Orphanet:101952 MONDO:equivalentTo Rare diabetes mellitus semapv:UnspecifiedMatching 0.5 +MONDO:0015123 obsolete rare inherited dyslipidemia Orphanet:101953 MONDO:equivalentTo Rare dyslipidemia semapv:UnspecifiedMatching 0.5 +MONDO:0015124 obsolete rare adrenal disease Orphanet:101954 MONDO:equivalentTo Rare adrenal disease semapv:UnspecifiedMatching 0.5 +MONDO:0015125 obsolete rare thyroid disease Orphanet:101955 MONDO:equivalentTo Rare thyroid disease semapv:UnspecifiedMatching 0.5 +MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency Orphanet:101963 MONDO:equivalentTo Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 +MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production Orphanet:101977 MONDO:equivalentTo Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching 0.5 +MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect Orphanet:101985 MONDO:equivalentTo Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching 0.5 +MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity Orphanet:101988 MONDO:equivalentTo Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching 0.5 +MONDO:0015139 obsolete rare epilepsy Orphanet:101998 MONDO:equivalentTo Rare epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0015141 obsolete disorder of medulla oblongata Orphanet:102000 MONDO:equivalentTo Medullar disease semapv:UnspecifiedMatching 0.5 +MONDO:0015143 obsolete rare movement disorder Orphanet:102003 MONDO:equivalentTo Rare movement disorder semapv:UnspecifiedMatching 0.5 +MONDO:0015144 obsolete brain inflammatory disease Orphanet:102005 MONDO:equivalentTo Brain inflammatory disease semapv:UnspecifiedMatching 0.5 +MONDO:0015145 obsolete neurovascular malformation Orphanet:102006 MONDO:equivalentTo Neurovascular malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015162 obsolete rare syndromic intellectual disability Orphanet:102369 MONDO:equivalentTo Rare syndromic intellectual disability semapv:UnspecifiedMatching 0.5 +MONDO:0015180 obsolete intestinal disease due to fat malabsorption Orphanet:104005 MONDO:equivalentTo Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 +MONDO:0015188 obsolete metabolic disorder with intestinal involvement Orphanet:104013 MONDO:equivalentTo Metabolic disease with intestinal involvement semapv:UnspecifiedMatching 0.5 +MONDO:0015207 obsolete non-syndromic esophageal malformation Orphanet:108959 MONDO:equivalentTo Non-syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015208 obsolete syndromic esophageal malformation Orphanet:108961 MONDO:equivalentTo Syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015209 obsolete non-syndromic gastroduodenal malformation Orphanet:108963 MONDO:equivalentTo Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015210 obsolete syndromic gastroduodenal malformation Orphanet:108965 MONDO:equivalentTo Syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015214 obsolete syndromic visceral malformation Orphanet:108973 MONDO:equivalentTo Syndromic visceral malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation Orphanet:108977 MONDO:equivalentTo Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation Orphanet:108979 MONDO:equivalentTo Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015219 obsolete non-syndromic central nervous system malformation Orphanet:108989 MONDO:equivalentTo Non-syndromic central nervous system malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature Orphanet:108991 MONDO:equivalentTo Syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation Orphanet:108993 MONDO:equivalentTo Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation Orphanet:108995 MONDO:equivalentTo Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015223 obsolete rare anemia Orphanet:108997 MONDO:equivalentTo Rare anemia semapv:UnspecifiedMatching 0.5 +MONDO:0015224 obsolete rare intoxication Orphanet:108999 MONDO:equivalentTo Rare disorder due to toxic effects semapv:UnspecifiedMatching 0.5 +MONDO:0015227 obsolete non-syndromic limb malformation Orphanet:109011 MONDO:equivalentTo Non-syndromic limb malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015245 obsolete rare intestinal disease Orphanet:117569 MONDO:equivalentTo Rare intestinal disease semapv:UnspecifiedMatching 0.5 +MONDO:0015305 obsolete rare endometriosis Orphanet:137820 MONDO:equivalentTo Extrapelvic endometriosis semapv:UnspecifiedMatching 0.5 +MONDO:0015310 obsolete syndromic optic nerve hypoplasia Orphanet:137905 MONDO:equivalentTo Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching 0.5 +MONDO:0015319 obsolete rare disease with Pierre Robin syndrome Orphanet:138044 MONDO:equivalentTo Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0015323 obsolete teratogenic Pierre Robin syndrome Orphanet:138059 MONDO:equivalentTo Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0015328 obsolete rare bone development disorder Orphanet:139012 MONDO:equivalentTo Rare bone development disorder semapv:UnspecifiedMatching 0.5 +MONDO:0015329 obsolete malformation syndrome with short stature Orphanet:139021 MONDO:equivalentTo Malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 +MONDO:0015330 obsolete overgrowth/obesity syndrome Orphanet:139024 MONDO:equivalentTo Overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement Orphanet:139027 MONDO:equivalentTo Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching 0.5 +MONDO:0015332 obsolete rare developmental defect with connective tissue involvement Orphanet:139030 MONDO:equivalentTo Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching 0.5 +MONDO:0015334 obsolete branchial arch or oral-acral syndrome Orphanet:139036 MONDO:equivalentTo Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate Orphanet:139039 MONDO:equivalentTo Orofacial clefting syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component Orphanet:139042 MONDO:equivalentTo Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 +MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy Orphanet:140453 MONDO:equivalentTo Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy Orphanet:140456 MONDO:equivalentTo Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy Orphanet:140459 MONDO:equivalentTo Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy Orphanet:140474 MONDO:equivalentTo Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy Orphanet:140477 MONDO:equivalentTo Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0015368 obsolete neuro-ophthalmological disease Orphanet:140653 MONDO:equivalentTo Neuro-ophthalmological disease semapv:UnspecifiedMatching 0.5 +MONDO:0015475 obsolete rare head and neck malformation Orphanet:155832 MONDO:equivalentTo Rare head and neck malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015485 obsolete primary hereditary glaucoma Orphanet:156005 MONDO:equivalentTo Primary early-onset glaucoma semapv:UnspecifiedMatching 0.5 +MONDO:0015488 obsolete predominantly large-vessel vasculitis Orphanet:156140 MONDO:equivalentTo Predominantly large-vessel vasculitis semapv:UnspecifiedMatching 0.5 +MONDO:0015489 obsolete predominantly medium-vessel vasculitis Orphanet:156143 MONDO:equivalentTo Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching 0.5 +MONDO:0015490 obsolete predominantly small-vessel vasculitis Orphanet:156146 MONDO:equivalentTo Predominantly small-vessel vasculitis semapv:UnspecifiedMatching 0.5 +MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes Orphanet:156202 MONDO:equivalentTo Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching 0.5 +MONDO:0015499 obsolete paralytic facial malformation Orphanet:156224 MONDO:equivalentTo Paralytic facial malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations Orphanet:156237 MONDO:equivalentTo Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching 0.5 +MONDO:0015502 obsolete pinnae and external auditory canal anomaly Orphanet:156243 MONDO:equivalentTo Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0015504 obsolete larynx anomaly Orphanet:156249 MONDO:equivalentTo Larynx anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0015506 obsolete rare syndrome with cardiac malformations Orphanet:156532 MONDO:equivalentTo Rare syndrome with cardiac malformations semapv:UnspecifiedMatching 0.5 +MONDO:0015507 obsolete rare genetic hepatic disease Orphanet:156601 MONDO:equivalentTo Rare genetic hepatic disease semapv:UnspecifiedMatching 0.5 +MONDO:0015508 obsolete hereditary parenchymatous liver disease Orphanet:156604 MONDO:equivalentTo Genetic parenchymatous liver disease semapv:UnspecifiedMatching 0.5 +MONDO:0015509 obsolete hereditary biliary tract disease Orphanet:156607 MONDO:equivalentTo Genetic biliary tract disease semapv:UnspecifiedMatching 0.5 +MONDO:0015510 obsolete rare genetic respiratory disease Orphanet:156610 MONDO:equivalentTo Rare genetic respiratory disease semapv:UnspecifiedMatching 0.5 +MONDO:0015511 obsolete rare genetic urogenital disease Orphanet:156619 MONDO:equivalentTo Rare genetic urogenital disease semapv:UnspecifiedMatching 0.5 +MONDO:0015512 obsolete genetic hypertension Orphanet:156629 MONDO:equivalentTo Rare genetic cause of hypertension semapv:UnspecifiedMatching 0.5 +MONDO:0015513 obsolete rare genetic endocrine disease Orphanet:156638 MONDO:equivalentTo Rare genetic endocrine disease semapv:UnspecifiedMatching 0.5 +MONDO:0015549 obsolete rare genetic hematologic disease Orphanet:158300 MONDO:equivalentTo Rare genetic hematologic disease semapv:UnspecifiedMatching 0.5 +MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration Orphanet:163209 MONDO:equivalentTo Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching 0.5 +MONDO:0015575 obsolete rare bacterial infectious disease Orphanet:163582 MONDO:equivalentTo Rare bacterial infectious disease semapv:UnspecifiedMatching 0.5 +MONDO:0015576 obsolete rare viral disease Orphanet:163585 MONDO:equivalentTo Rare viral disease semapv:UnspecifiedMatching 0.5 +MONDO:0015577 obsolete rare parasitic disease Orphanet:163588 MONDO:equivalentTo Rare parasitic disease semapv:UnspecifiedMatching 0.5 +MONDO:0015578 obsolete rare mycosis Orphanet:163591 MONDO:equivalentTo Rare mycosis semapv:UnspecifiedMatching 0.5 +MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium Orphanet:163637 MONDO:equivalentTo Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching 0.5 +MONDO:0015603 obsolete rare odontal or periodontal disorder Orphanet:164001 MONDO:equivalentTo Rare odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 +MONDO:0015615 obsolete rare genetic gastroenterological disease Orphanet:165652 MONDO:equivalentTo Rare genetic gastroenterological disease semapv:UnspecifiedMatching 0.5 +MONDO:0015616 obsolete rare genetic intestinal disease Orphanet:165655 MONDO:equivalentTo Genetic intestinal disease semapv:UnspecifiedMatching 0.5 +MONDO:0015617 obsolete hereditary gastro-esophageal disease Orphanet:165658 MONDO:equivalentTo Genetic gastro-esophageal disease semapv:UnspecifiedMatching 0.5 +MONDO:0015618 obsolete genetic pancreatic disease Orphanet:165661 MONDO:equivalentTo Genetic pancreatic disease semapv:UnspecifiedMatching 0.5 +MONDO:0015620 obsolete syndromic urogenital tract malformation Orphanet:165707 MONDO:equivalentTo Syndromic urogenital tract malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015621 obsolete rare abdominal surgical disease Orphanet:165711 MONDO:equivalentTo Rare abdominal surgical disease semapv:UnspecifiedMatching 0.5 +MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy Orphanet:166466 MONDO:equivalentTo Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature Orphanet:166469 MONDO:equivalentTo Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes Orphanet:166475 MONDO:equivalentTo Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching 0.5 +MONDO:0015655 obsolete cerebral malformation with epilepsy Orphanet:166478 MONDO:equivalentTo Cerebral malformation with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0015656 obsolete metabolic disease with epilepsy Orphanet:166481 MONDO:equivalentTo Metabolic diseases with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy Orphanet:166484 MONDO:equivalentTo Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy Orphanet:166487 MONDO:equivalentTo Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0015659 obsolete infectious disease with epilepsy Orphanet:166490 MONDO:equivalentTo Infectious disease with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect Orphanet:166775 MONDO:equivalentTo Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching 0.5 +MONDO:0015668 obsolete hereditary dentin defect Orphanet:167759 MONDO:equivalentTo Hereditary dentin defect semapv:UnspecifiedMatching 0.5 +MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta Orphanet:167762 MONDO:equivalentTo Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 +MONDO:0015673 obsolete rare cardiac tumor Orphanet:168194 MONDO:equivalentTo Rare cardiac tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015682 obsolete primary peritoneal tumor Orphanet:168803 MONDO:equivalentTo Primary peritoneal tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency Orphanet:169361 MONDO:equivalentTo Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching 0.5 +MONDO:0015765 obsolete congenital myopathy with cores Orphanet:172976 MONDO:equivalentTo Congenital myopathy with cores semapv:UnspecifiedMatching 0.5 +MONDO:0015777 obsolete adult hypothyroidism Orphanet:177101 MONDO:equivalentTo Rare adult hypothyroidism semapv:UnspecifiedMatching 0.5 +MONDO:0015778 obsolete syndromic hypothyroidism Orphanet:177107 MONDO:equivalentTo Syndromic hypothyroidism semapv:UnspecifiedMatching 0.5 +MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations Orphanet:178025 MONDO:equivalentTo Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching 0.5 +MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity Orphanet:179006 MONDO:equivalentTo Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching 0.5 +MONDO:0015846 obsolete syndromic uterovaginal malformation Orphanet:180148 MONDO:equivalentTo Syndromic uterovaginal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015851 obsolete rare breast malformation Orphanet:180163 MONDO:equivalentTo Rare breast malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015852 obsolete excess breast volume or number Orphanet:180170 MONDO:equivalentTo Excess breast volume or number semapv:UnspecifiedMatching 0.5 +MONDO:0015853 obsolete deficient breast volume or number Orphanet:180173 MONDO:equivalentTo Deficient breast volume or number semapv:UnspecifiedMatching 0.5 +MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease Orphanet:180199 MONDO:equivalentTo Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 +MONDO:0015858 obsolete rare non-malformative breast disease Orphanet:180202 MONDO:equivalentTo Rare non-malformative breast disease semapv:UnspecifiedMatching 0.5 +MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease Orphanet:180205 MONDO:equivalentTo Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching 0.5 +MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle Orphanet:180208 MONDO:equivalentTo Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching 0.5 +MONDO:0015861 obsolete rare uterine adnexal tumor Orphanet:180220 MONDO:equivalentTo Rare uterine adnexal tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015868 obsolete rare breast tumor Orphanet:180250 MONDO:equivalentTo Rare breast tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015870 obsolete rare malignant breast tumor Orphanet:180257 MONDO:equivalentTo Rare malignant breast tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015875 obsolete rare non-malformative uterine adnexal disease Orphanet:180303 MONDO:equivalentTo Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching 0.5 +MONDO:0015876 obsolete rare vulvovaginal tumor Orphanet:180312 MONDO:equivalentTo Rare vulvovaginal tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta Orphanet:180766 MONDO:equivalentTo Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 +MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation Orphanet:180776 MONDO:equivalentTo Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation Orphanet:180779 MONDO:equivalentTo Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015881 obsolete gastroesophageal tumor Orphanet:180821 MONDO:equivalentTo Rare gastroesophageal tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015886 obsolete rare diabetes mellitus type 1 Orphanet:181371 MONDO:equivalentTo Rare diabetes mellitus type 1 semapv:UnspecifiedMatching 0.5 +MONDO:0015887 obsolete rare diabetes mellitus type 2 Orphanet:181376 MONDO:equivalentTo Rare diabetes mellitus type 2 semapv:UnspecifiedMatching 0.5 +MONDO:0015888 obsolete other rare diabetes mellitus Orphanet:181381 MONDO:equivalentTo Other rare diabetes mellitus semapv:UnspecifiedMatching 0.5 +MONDO:0015889 obsolete rare hypothalamic or pituitary disease Orphanet:181384 MONDO:equivalentTo Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 +MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism Orphanet:181387 MONDO:equivalentTo Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 +MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies Orphanet:181390 MONDO:equivalentTo Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0015893 obsolete rare hypothyroidism Orphanet:181396 MONDO:equivalentTo Rare hypothyroidism semapv:UnspecifiedMatching 0.5 +MONDO:0015894 obsolete rare hyperthyroidism Orphanet:181399 MONDO:equivalentTo Rare hyperthyroidism semapv:UnspecifiedMatching 0.5 +MONDO:0015896 obsolete rare hypoparathyroidism Orphanet:181405 MONDO:equivalentTo Rare hypoparathyroidism semapv:UnspecifiedMatching 0.5 +MONDO:0015897 obsolete rare hyperparathyroidism Orphanet:181408 MONDO:equivalentTo Rare hyperparathyroidism semapv:UnspecifiedMatching 0.5 +MONDO:0015899 obsolete rare primary hyperaldosteronism Orphanet:181415 MONDO:equivalentTo Rare primary hyperaldosteronism semapv:UnspecifiedMatching 0.5 +MONDO:0015901 obsolete rare inherited hyperlipidemia Orphanet:181422 MONDO:equivalentTo Rare hyperlipidemia semapv:UnspecifiedMatching 0.5 +MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism Orphanet:181441 MONDO:equivalentTo Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 +MONDO:0015910 obsolete rare constitutional hemolytic anemia Orphanet:182043 MONDO:equivalentTo Rare constitutional hemolytic anemia semapv:UnspecifiedMatching 0.5 +MONDO:0015911 obsolete rare acquired hemolytic anemia Orphanet:182047 MONDO:equivalentTo Rare acquired hemolytic anemia semapv:UnspecifiedMatching 0.5 +MONDO:0015913 obsolete rare thrombotic disease of hematologic origin Orphanet:182054 MONDO:equivalentTo Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching 0.5 +MONDO:0015915 obsolete cerebellar malformation Orphanet:182061 MONDO:equivalentTo Cerebellar malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease Orphanet:182064 MONDO:equivalentTo Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching 0.5 +MONDO:0015918 obsolete rare neurodegenerative disease Orphanet:182070 MONDO:equivalentTo Rare neurodegenerative disease semapv:UnspecifiedMatching 0.5 +MONDO:0015921 obsolete ARX-related epileptic encephalopathy Orphanet:182079 MONDO:equivalentTo ARX-related epileptic encephalopathy semapv:UnspecifiedMatching 0.5 +MONDO:0015922 obsolete channelopathy with epilepsy Orphanet:182083 MONDO:equivalentTo Channelopathy with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0015930 obsolete respiratory malformation Orphanet:182111 MONDO:equivalentTo Respiratory malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015931 obsolete rare urogenital tumor Orphanet:182114 MONDO:equivalentTo Rare urogenital tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015940 obsolete rare rheumatologic disease Orphanet:182231 MONDO:equivalentTo Rare rheumatologic disease semapv:UnspecifiedMatching 0.5 +MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer Orphanet:183422 MONDO:equivalentTo Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching 0.5 +MONDO:0015946 obsolete rare genetic epidermal disorder Orphanet:183426 MONDO:equivalentTo Genetic epidermal disorder semapv:UnspecifiedMatching 0.5 +MONDO:0015948 obsolete rare genetic skin vascular disorder Orphanet:183478 MONDO:equivalentTo Genetic skin vascular disorder semapv:UnspecifiedMatching 0.5 +MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder Orphanet:183484 MONDO:equivalentTo Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching 0.5 +MONDO:0015950 obsolete inherited skin tumor Orphanet:183487 MONDO:equivalentTo Genetic skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 +MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease Orphanet:183503 MONDO:equivalentTo Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 +MONDO:0015954 obsolete rare genetic headache disorder Orphanet:183509 MONDO:equivalentTo Rare genetic headache semapv:UnspecifiedMatching 0.5 +MONDO:0015955 obsolete rare genetic epilepsy Orphanet:183512 MONDO:equivalentTo Rare genetic epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0015957 obsolete rare genetic movement disorder Orphanet:183521 MONDO:equivalentTo Rare genetic movement disorder semapv:UnspecifiedMatching 0.5 +MONDO:0015958 obsolete rare genetic bone disease Orphanet:183524 MONDO:equivalentTo Rare genetic bone disease semapv:UnspecifiedMatching 0.5 +MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature Orphanet:183527 MONDO:equivalentTo Genetic bone tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis Orphanet:183530 MONDO:equivalentTo Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching 0.5 +MONDO:0015961 obsolete hereditary head and neck malformation Orphanet:183583 MONDO:equivalentTo Genetic head and neck malformation semapv:UnspecifiedMatching 0.5 +MONDO:0015963 obsolete inherited renal tumor Orphanet:183595 MONDO:equivalentTo Genetic renal tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015966 obsolete hereditary eye tumor Orphanet:183619 MONDO:equivalentTo Genetic eye tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease Orphanet:183628 MONDO:equivalentTo Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 +MONDO:0015969 obsolete rare genetic thyroid disease Orphanet:183631 MONDO:equivalentTo Rare genetic thyroid disease semapv:UnspecifiedMatching 0.5 +MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder Orphanet:183634 MONDO:equivalentTo Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching 0.5 +MONDO:0015971 obsolete rare genetic adrenal disease Orphanet:183637 MONDO:equivalentTo Rare genetic adrenal disease semapv:UnspecifiedMatching 0.5 +MONDO:0015972 obsolete rare constitutional anemia Orphanet:183651 MONDO:equivalentTo Rare constitutional anemia semapv:UnspecifiedMatching 0.5 +MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases Orphanet:183731 MONDO:equivalentTo Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching 0.5 +MONDO:0015981 obsolete inherited gynecological tumor Orphanet:183734 MONDO:equivalentTo Genetic gynecological tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015982 obsolete rare genetic intellectual disability Orphanet:183757 MONDO:equivalentTo Rare genetic intellectual disability semapv:UnspecifiedMatching 0.5 +MONDO:0015984 obsolete rare genetic immune disease Orphanet:183770 MONDO:equivalentTo Rare genetic immune disease semapv:UnspecifiedMatching 0.5 +MONDO:0016034 obsolete cleft lip with or without cleft palate Orphanet:1991 MONDO:equivalentTo Cleft lip with or without cleft palate semapv:UnspecifiedMatching 0.5 +MONDO:0016054 obsolete cerebral malformation Orphanet:199633 MONDO:equivalentTo Non-syndromic cerebral malformation semapv:UnspecifiedMatching 0.5 +MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature Orphanet:199639 MONDO:equivalentTo Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin Orphanet:202940 MONDO:equivalentTo Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching 0.5 +MONDO:0016104 obsolete infectious disease with peripheral neuropathy Orphanet:206613 MONDO:equivalentTo Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016109 obsolete autosomal recessive distal myopathy Orphanet:206653 MONDO:equivalentTo Autosomal recessive distal myopathy semapv:UnspecifiedMatching 0.5 +MONDO:0016110 obsolete non-dystrophic myopathy Orphanet:206656 MONDO:equivalentTo Non-dystrophic myopathy semapv:UnspecifiedMatching 0.5 +MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood Orphanet:206704 MONDO:equivalentTo Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching 0.5 +MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood Orphanet:206707 MONDO:equivalentTo Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching 0.5 +MONDO:0016116 obsolete generalized bulbospinal muscular atrophy Orphanet:206710 MONDO:equivalentTo Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching 0.5 +MONDO:0016118 obsolete muscular glycogenosis Orphanet:206959 MONDO:equivalentTo Muscular glycogenosis semapv:UnspecifiedMatching 0.5 +MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly Orphanet:207012 MONDO:equivalentTo Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy Orphanet:207015 MONDO:equivalentTo Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy Orphanet:207018 MONDO:equivalentTo Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy Orphanet:207021 MONDO:equivalentTo Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy Orphanet:207025 MONDO:equivalentTo Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy Orphanet:207038 MONDO:equivalentTo Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy Orphanet:207046 MONDO:equivalentTo Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 Orphanet:207098 MONDO:equivalentTo Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching 0.5 +MONDO:0016152 obsolete qualitative or quantitative defects of calpain Orphanet:207104 MONDO:equivalentTo Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching 0.5 +MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin Orphanet:207110 MONDO:equivalentTo Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching 0.5 +MONDO:0016157 obsolete qualitative or quantitative defects of fukutin Orphanet:207122 MONDO:equivalentTo Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching 0.5 +MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy Orphanet:208974 MONDO:equivalentTo Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016170 obsolete chronic polyradiculoneuropathy Orphanet:208978 MONDO:equivalentTo Chronic polyradiculoneuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016172 obsolete acquired sensory ganglionopathy Orphanet:208984 MONDO:equivalentTo Acquired sensory ganglionopathy semapv:UnspecifiedMatching 0.5 +MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy Orphanet:209007 MONDO:equivalentTo Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy Orphanet:209010 MONDO:equivalentTo Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching 0.5 +MONDO:0016179 obsolete acquired amyloid peripheral neuropathy Orphanet:209013 MONDO:equivalentTo Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy Orphanet:209016 MONDO:equivalentTo Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy Orphanet:209019 MONDO:equivalentTo Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase Orphanet:209024 MONDO:equivalentTo Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching 0.5 +MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like Orphanet:209027 MONDO:equivalentTo Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching 0.5 +MONDO:0016196 obsolete qualitative or quantitative defects of emerin Orphanet:209188 MONDO:equivalentTo Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching 0.5 +MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Orphanet:209203 MONDO:equivalentTo Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching 0.5 +MONDO:0016221 obsolete temporomandibular joint anomaly Orphanet:210581 MONDO:equivalentTo Temporomandibular joint anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0016228 obsolete rare vascular tumor Orphanet:211237 MONDO:equivalentTo Rare vascular tumor semapv:UnspecifiedMatching 0.5 +MONDO:0016229 obsolete hereditary vascular anomaly Orphanet:211240 MONDO:equivalentTo Genetic vascular anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0016230 obsolete simple vascular malformation Orphanet:211243 MONDO:equivalentTo Simple vascular malformation semapv:UnspecifiedMatching 0.5 +MONDO:0016232 obsolete rare venous malformation Orphanet:211252 MONDO:equivalentTo Rare venous malformation semapv:UnspecifiedMatching 0.5 +MONDO:0016233 obsolete rare lymphatic system malformation Orphanet:211255 MONDO:equivalentTo Rare lymphatic system anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0016235 obsolete complex vascular malformation with associated anomalies Orphanet:211277 MONDO:equivalentTo Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 +MONDO:0016252 obsolete rare uterine cancer Orphanet:213564 MONDO:equivalentTo Rare uterine cancer semapv:UnspecifiedMatching 0.5 +MONDO:0016253 obsolete rare cancer of corpus uteri Orphanet:213569 MONDO:equivalentTo Rare cancer of corpus uteri semapv:UnspecifiedMatching 0.5 +MONDO:0016274 obsolete rare cancer of cervix uteri Orphanet:213761 MONDO:equivalentTo Rare cancer of cervix uteri semapv:UnspecifiedMatching 0.5 +MONDO:0016320 obsolete rare hereditary thrombophilia Orphanet:217454 MONDO:equivalentTo Rare hereditary thrombophilia semapv:UnspecifiedMatching 0.5 +MONDO:0016343 obsolete unclassified cardiomyopathy Orphanet:217678 MONDO:equivalentTo Unclassified cardiomyopathy semapv:UnspecifiedMatching 0.5 +MONDO:0016347 obsolete rare cardiac rhythm disease Orphanet:218436 MONDO:equivalentTo Rare cardiac rhythm disease semapv:UnspecifiedMatching 0.5 +MONDO:0016348 obsolete non-genetic cardiac rhythm disease Orphanet:218439 MONDO:equivalentTo Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 +MONDO:0016375 obsolete acquired peripheral movement disorder Orphanet:221114 MONDO:equivalentTo Acquired peripheral movement disorder semapv:UnspecifiedMatching 0.5 +MONDO:0016397 obsolete lysosomal disease with epilepsy Orphanet:225681 MONDO:equivalentTo Lysosomal disease with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0016398 obsolete peroxisomal disease with epilepsy Orphanet:225686 MONDO:equivalentTo Peroxisomal disease with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy Orphanet:225689 MONDO:equivalentTo Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy Orphanet:225692 MONDO:equivalentTo Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0016401 obsolete energy metabolism disorder with epilepsy Orphanet:225696 MONDO:equivalentTo Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0016402 obsolete mitochondrial disease with epilepsy Orphanet:225700 MONDO:equivalentTo Mitochondrial disease with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy Orphanet:225703 MONDO:equivalentTo Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy Orphanet:225707 MONDO:equivalentTo Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0016405 obsolete sterol metabolism disorder with epilepsy Orphanet:225710 MONDO:equivalentTo Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0016406 obsolete other metabolic disease with epilepsy Orphanet:225713 MONDO:equivalentTo Other metabolic disease with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0016409 obsolete primary congenital hypothyroidism Orphanet:226295 MONDO:equivalentTo Primary congenital hypothyroidism semapv:UnspecifiedMatching 0.5 +MONDO:0016428 obsolete multiple sclerosis variant Orphanet:228145 MONDO:equivalentTo Multiple sclerosis variant semapv:UnspecifiedMatching 0.5 +MONDO:0016434 obsolete acquired dermis elastic tissue disorder Orphanet:228218 MONDO:equivalentTo Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 +MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue Orphanet:228221 MONDO:equivalentTo Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching 0.5 +MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue Orphanet:228224 MONDO:equivalentTo Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching 0.5 +MONDO:0016493 obsolete variant of Guillain-Barre syndrome Orphanet:231413 MONDO:equivalentTo Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome Orphanet:231416 MONDO:equivalentTo Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome Orphanet:231419 MONDO:equivalentTo Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism Orphanet:231637 MONDO:equivalentTo Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 +MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism Orphanet:231641 MONDO:equivalentTo Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 +MONDO:0016517 obsolete rare genetic vascular disease Orphanet:233655 MONDO:equivalentTo Rare genetic vascular disease semapv:UnspecifiedMatching 0.5 +MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma Orphanet:2338 MONDO:equivalentTo Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 +MONDO:0016524 obsolete congenital vascular bone syndrome Orphanet:235832 MONDO:equivalentTo Congenital vascular bone syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0016565 obsolete syndromic genetic obesity Orphanet:240371 MONDO:equivalentTo Syndromic obesity semapv:UnspecifiedMatching 0.5 +MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Orphanet:2443 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching 0.5 +MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis Orphanet:244305 MONDO:equivalentTo Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching 0.5 +MONDO:0016623 obsolete rare deficiency anemia Orphanet:248293 MONDO:equivalentTo Rare deficiency anemia semapv:UnspecifiedMatching 0.5 +MONDO:0016627 obsolete rare hemorrhagic disorder Orphanet:248308 MONDO:equivalentTo Rare hemorrhagic disorder semapv:UnspecifiedMatching 0.5 +MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect Orphanet:248315 MONDO:equivalentTo Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 +MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly Orphanet:248326 MONDO:equivalentTo Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly Orphanet:248347 MONDO:equivalentTo Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect Orphanet:248358 MONDO:equivalentTo Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 +MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect Orphanet:248361 MONDO:equivalentTo Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 +MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect Orphanet:248365 MONDO:equivalentTo Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching 0.5 +MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly Orphanet:248368 MONDO:equivalentTo Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly Orphanet:248401 MONDO:equivalentTo Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly Orphanet:248404 MONDO:equivalentTo Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0016645 obsolete rare neoplastic disease Orphanet:250908 MONDO:equivalentTo Rare neoplastic disease semapv:UnspecifiedMatching 0.5 +MONDO:0016678 obsolete maternal disease-related embryofetopathy Orphanet:251535 MONDO:equivalentTo Maternal disease-related embryofetopathy semapv:UnspecifiedMatching 0.5 +MONDO:0016679 obsolete rare tumor of neuroepithelial tissue Orphanet:251558 MONDO:equivalentTo Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 +MONDO:0016701 obsolete oligoastrocytic tumor Orphanet:251651 MONDO:equivalentTo Oligoastrocytic tumor semapv:UnspecifiedMatching 0.5 +MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin Orphanet:251668 MONDO:equivalentTo Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching 0.5 +MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue Orphanet:251852 MONDO:equivalentTo Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 +MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue Orphanet:251905 MONDO:equivalentTo Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 +MONDO:0016726 obsolete neuronal tumor Orphanet:251924 MONDO:equivalentTo Neuronal tumor semapv:UnspecifiedMatching 0.5 +MONDO:0016744 obsolete primary melanocytic tumor of central nervous system Orphanet:252028 MONDO:equivalentTo Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching 0.5 +MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome Orphanet:252190 MONDO:equivalentTo Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0016767 obsolete cutaneous lichen planus Orphanet:254370 MONDO:equivalentTo Rare cutaneous lichen planus semapv:UnspecifiedMatching 0.5 +MONDO:0016768 obsolete rare mucosal lichen planus Orphanet:254373 MONDO:equivalentTo Rare mucosal lichen planus semapv:UnspecifiedMatching 0.5 +MONDO:0016788 obsolete genetic hyperferritinemia without iron overload Orphanet:254704 MONDO:equivalentTo Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching 0.5 +MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Orphanet:254758 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching 0.5 +MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA Orphanet:254767 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching 0.5 +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Orphanet:254776 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching 0.5 +MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy Orphanet:254788 MONDO:equivalentTo Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching 0.5 +MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism Orphanet:254822 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching 0.5 +MONDO:0016803 obsolete unspecified inborn mitochondrial disorder Orphanet:254837 MONDO:equivalentTo Unspecified mitochondrial disorder semapv:UnspecifiedMatching 0.5 +MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder Orphanet:254846 MONDO:equivalentTo Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching 0.5 +MONDO:0016998 obsolete complex chromosomal rearrangement Orphanet:263708 MONDO:equivalentTo Complex chromosomal rearrangement semapv:UnspecifiedMatching 0.5 +MONDO:0016999 obsolete X chromosome number anomaly Orphanet:263714 MONDO:equivalentTo X chromosome number anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0017000 obsolete X chromosome number anomaly with female phenotype Orphanet:263717 MONDO:equivalentTo X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching 0.5 +MONDO:0017001 obsolete X chromosome number anomaly with male phenotype Orphanet:263720 MONDO:equivalentTo X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching 0.5 +MONDO:0017002 obsolete polysomy of X chromosome Orphanet:263723 MONDO:equivalentTo Polysomy of X chromosome semapv:UnspecifiedMatching 0.5 +MONDO:0017005 obsolete Y chromosome number anomaly Orphanet:263746 MONDO:equivalentTo Y chromosome number anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0017006 obsolete X and Y chromosomal anomaly Orphanet:263749 MONDO:equivalentTo X and Y chromosomal anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0017011 obsolete uniparental disomy of chromosome X Orphanet:263793 MONDO:equivalentTo Uniparental disomy of chromosome X semapv:UnspecifiedMatching 0.5 +MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column Orphanet:268843 MONDO:equivalentTo Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching 0.5 +MONDO:0017090 obsolete midline cerebral malformation Orphanet:268926 MONDO:equivalentTo Midline cerebral malformation semapv:UnspecifiedMatching 0.5 +MONDO:0017104 obsolete central nervous system cystic malformation Orphanet:269194 MONDO:equivalentTo Central nervous system cystic malformation semapv:UnspecifiedMatching 0.5 +MONDO:0017114 obsolete global cerebellar malformation Orphanet:269224 MONDO:equivalentTo Global cerebellar malformation semapv:UnspecifiedMatching 0.5 +MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature Orphanet:269523 MONDO:equivalentTo Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature Orphanet:269531 MONDO:equivalentTo Other syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature Orphanet:269546 MONDO:equivalentTo Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature Orphanet:269573 MONDO:equivalentTo Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017127 obsolete inherited soft tissue tumor Orphanet:271832 MONDO:equivalentTo Genetic soft tissue tumor semapv:UnspecifiedMatching 0.5 +MONDO:0017128 obsolete inherited digestive tract tumor Orphanet:271835 MONDO:equivalentTo Genetic digestive tract tumor semapv:UnspecifiedMatching 0.5 +MONDO:0017129 obsolete inherited cardiac tumor Orphanet:271841 MONDO:equivalentTo Genetic cardiac tumor semapv:UnspecifiedMatching 0.5 +MONDO:0017130 obsolete genetic urogenital tumor Orphanet:271844 MONDO:equivalentTo Genetic urogenital tumor semapv:UnspecifiedMatching 0.5 +MONDO:0017131 obsolete hereditary cardiac anomaly Orphanet:271853 MONDO:equivalentTo Genetic cardiac anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia Orphanet:275729 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 +MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect Orphanet:275736 MONDO:equivalentTo Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching 0.5 +MONDO:0017143 obsolete genetic infertility Orphanet:275742 MONDO:equivalentTo Genetic infertility semapv:UnspecifiedMatching 0.5 +MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism Orphanet:275844 MONDO:equivalentTo Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching 0.5 +MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature Orphanet:275853 MONDO:equivalentTo Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017166 obsolete rare tumor of salivary glands Orphanet:276142 MONDO:equivalentTo Rare tumor of salivary glands semapv:UnspecifiedMatching 0.5 +MONDO:0017234 obsolete inherited prion disease Orphanet:280400 MONDO:equivalentTo Inherited human prion disease semapv:UnspecifiedMatching 0.5 +MONDO:0017259 obsolete systemic diseases with anterior uveitis Orphanet:280926 MONDO:equivalentTo Systemic diseases with anterior uveitis semapv:UnspecifiedMatching 0.5 +MONDO:0017260 obsolete systemic diseases with posterior uveitis Orphanet:280930 MONDO:equivalentTo Systemic diseases with posterior uveitis semapv:UnspecifiedMatching 0.5 +MONDO:0017261 obsolete systemic diseases with panuveitis Orphanet:280933 MONDO:equivalentTo Systemic diseases with panuveitis semapv:UnspecifiedMatching 0.5 +MONDO:0017262 obsolete inherited non-syndromic ichthyosis Orphanet:281082 MONDO:equivalentTo Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching 0.5 +MONDO:0017270 obsolete autosomal ichthyosis syndrome Orphanet:281217 MONDO:equivalentTo Autosomal ichthyosis syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities Orphanet:281222 MONDO:equivalentTo Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching 0.5 +MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs Orphanet:281238 MONDO:equivalentTo Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching 0.5 +MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course Orphanet:281241 MONDO:equivalentTo Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching 0.5 +MONDO:0017302 obsolete qualitative or quantitative defects of troponin Orphanet:284786 MONDO:equivalentTo Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching 0.5 +MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection Orphanet:285014 MONDO:equivalentTo Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching 0.5 +MONDO:0017368 obsolete systemic disease with skin involvement Orphanet:290836 MONDO:equivalentTo Systemic disease with skin involvement semapv:UnspecifiedMatching 0.5 +MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency Orphanet:290839 MONDO:equivalentTo Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching 0.5 +MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement Orphanet:290842 MONDO:equivalentTo Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching 0.5 +MONDO:0017371 obsolete rare head and neck tumor Orphanet:290849 MONDO:equivalentTo Rare head and neck tumor semapv:UnspecifiedMatching 0.5 +MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria Orphanet:293355 MONDO:equivalentTo Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching 0.5 +MONDO:0017414 obsolete rare nevus Orphanet:294057 MONDO:equivalentTo Rare nevus semapv:UnspecifiedMatching 0.5 +MONDO:0017420 obsolete intercalary limb defects Orphanet:294927 MONDO:equivalentTo Intercalary limb defects semapv:UnspecifiedMatching 0.5 +MONDO:0017431 obsolete non-syndromic limb overgrowth Orphanet:294953 MONDO:equivalentTo Non syndromic limb overgrowth semapv:UnspecifiedMatching 0.5 +MONDO:0017432 obsolete syndrome with limb reduction defects Orphanet:294955 MONDO:equivalentTo Syndrome with limb reduction defects semapv:UnspecifiedMatching 0.5 +MONDO:0017633 obsolete rare intoxication due to medical products Orphanet:306640 MONDO:equivalentTo Rare intoxication due to medical products semapv:UnspecifiedMatching 0.5 +MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease Orphanet:306666 MONDO:equivalentTo Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 +MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication Orphanet:306679 MONDO:equivalentTo Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching 0.5 +MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease Orphanet:306695 MONDO:equivalentTo Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 +MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder Orphanet:306708 MONDO:equivalentTo Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching 0.5 +MONDO:0017644 obsolete rare tremor disorder Orphanet:306712 MONDO:equivalentTo Rare tremor disorder semapv:UnspecifiedMatching 0.5 +MONDO:0017645 obsolete rare choreic movement disorder Orphanet:306715 MONDO:equivalentTo Rare choreic movement disorder semapv:UnspecifiedMatching 0.5 +MONDO:0017646 obsolete neurodegenerative disease with chorea Orphanet:306719 MONDO:equivalentTo Neurodegenerative disease with chorea semapv:UnspecifiedMatching 0.5 +MONDO:0017647 obsolete postinfectious autoimmune disease with chorea Orphanet:306727 MONDO:equivalentTo Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching 0.5 +MONDO:0017650 obsolete rare myoclonus Orphanet:306747 MONDO:equivalentTo Rare myoclonus semapv:UnspecifiedMatching 0.5 +MONDO:0017651 obsolete primary myoclonus Orphanet:306750 MONDO:equivalentTo Primary myoclonus semapv:UnspecifiedMatching 0.5 +MONDO:0017652 obsolete rare disease with myoclonus as a major feature Orphanet:306753 MONDO:equivalentTo Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature Orphanet:306756 MONDO:equivalentTo Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature Orphanet:306759 MONDO:equivalentTo Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017656 obsolete motor stereotypies Orphanet:306765 MONDO:equivalentTo Motor stereotypies semapv:UnspecifiedMatching 0.5 +MONDO:0017657 obsolete rare paroxysmal movement disorder Orphanet:306768 MONDO:equivalentTo Rare paroxysmal movement disorder semapv:UnspecifiedMatching 0.5 +MONDO:0017660 obsolete rare genetic parkinsonian disorder Orphanet:307052 MONDO:equivalentTo Rare genetic parkinsonian disorder semapv:UnspecifiedMatching 0.5 +MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease Orphanet:307055 MONDO:equivalentTo Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 +MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease Orphanet:307058 MONDO:equivalentTo Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 +MONDO:0017663 obsolete inherited tremor disorder Orphanet:307061 MONDO:equivalentTo Rare genetic tremor disorder semapv:UnspecifiedMatching 0.5 +MONDO:0017663 obsolete inherited tremor disorder Orphanet:307064 MONDO:equivalentTo Rare genetic myoclonus semapv:UnspecifiedMatching 0.5 +MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature Orphanet:307067 MONDO:equivalentTo Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma Orphanet:307148 MONDO:equivalentTo Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 +MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature Orphanet:307711 MONDO:equivalentTo Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma Orphanet:307773 MONDO:equivalentTo Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 +MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature Orphanet:307804 MONDO:equivalentTo Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017673 obsolete isolated focal palmoplantar keratoderma Orphanet:307846 MONDO:equivalentTo Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 +MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature Orphanet:307871 MONDO:equivalentTo Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature Orphanet:308023 MONDO:equivalentTo Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature Orphanet:308031 MONDO:equivalentTo Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature Orphanet:308041 MONDO:equivalentTo Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017710 obsolete congenital systemic veins anomaly Orphanet:3091 MONDO:equivalentTo Congenital systemic veins anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder Orphanet:309133 MONDO:equivalentTo Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching 0.5 +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Orphanet:309136 MONDO:equivalentTo Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching 0.5 +MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis Orphanet:309450 MONDO:equivalentTo Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching 0.5 +MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis Orphanet:309458 MONDO:equivalentTo Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 +MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis Orphanet:309463 MONDO:equivalentTo Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 +MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis Orphanet:309469 MONDO:equivalentTo Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching 0.5 +MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport Orphanet:309833 MONDO:equivalentTo Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching 0.5 +MONDO:0017797 obsolete rare odontologic tumor Orphanet:314425 MONDO:equivalentTo Rare odontogenic tumor semapv:UnspecifiedMatching 0.5 +MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature Orphanet:314749 MONDO:equivalentTo Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0017841 obsolete autoimmune disease with skin involvement Orphanet:315350 MONDO:equivalentTo Autoimmune disease with skin involvement semapv:UnspecifiedMatching 0.5 +MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome Orphanet:319328 MONDO:equivalentTo Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Orphanet:319535 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching 0.5 +MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Orphanet:319539 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 +MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Orphanet:319543 MONDO:equivalentTo Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 +MONDO:0017912 obsolete X-linked pure spastic paraplegia Orphanet:320332 MONDO:equivalentTo X-linked pure spastic paraplegia semapv:UnspecifiedMatching 0.5 +MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia Orphanet:320342 MONDO:equivalentTo Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching 0.5 +MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia Orphanet:320346 MONDO:equivalentTo Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching 0.5 +MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia Orphanet:320350 MONDO:equivalentTo Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching 0.5 +MONDO:0017954 obsolete pyogenic autoinflammatory syndrome Orphanet:324927 MONDO:equivalentTo Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0017955 obsolete granulomatous autoinflammatory syndrome Orphanet:324930 MONDO:equivalentTo Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome Orphanet:324933 MONDO:equivalentTo Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0017957 obsolete unclassified autoinflammatory syndrome Orphanet:324936 MONDO:equivalentTo Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0017961 obsolete 46,XX disorder of gonadal development Orphanet:325055 MONDO:equivalentTo 46,XX disorder of gonadal development semapv:UnspecifiedMatching 0.5 +MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess Orphanet:325061 MONDO:equivalentTo 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching 0.5 +MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen Orphanet:325093 MONDO:equivalentTo 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 +MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen Orphanet:325099 MONDO:equivalentTo 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 +MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development Orphanet:325109 MONDO:equivalentTo Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 +MONDO:0017966 obsolete 46,XY disorder of gonadal development Orphanet:325118 MONDO:equivalentTo 46,XY disorder of gonadal development semapv:UnspecifiedMatching 0.5 +MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin Orphanet:325351 MONDO:equivalentTo 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching 0.5 +MONDO:0017976 obsolete disorder of sex development of gynecological interest Orphanet:325620 MONDO:equivalentTo Difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 +MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest Orphanet:325632 MONDO:equivalentTo 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 +MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest Orphanet:325638 MONDO:equivalentTo Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 +MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity Orphanet:331193 MONDO:equivalentTo Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching 0.5 +MONDO:0018035 obsolete syndrome with combined immunodeficiency Orphanet:331217 MONDO:equivalentTo Syndrome with combined immunodeficiency semapv:UnspecifiedMatching 0.5 +MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Orphanet:331232 MONDO:equivalentTo Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching 0.5 +MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects Orphanet:331244 MONDO:equivalentTo Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching 0.5 +MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement Orphanet:352306 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching 0.5 +MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement Orphanet:352309 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching 0.5 +MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement Orphanet:352312 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching 0.5 +MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis Orphanet:35696 MONDO:equivalentTo Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching 0.5 +MONDO:0018185 obsolete congenital anomaly of the great veins Orphanet:363189 MONDO:equivalentTo Congenital anomaly of the great veins semapv:UnspecifiedMatching 0.5 +MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome Orphanet:363294 MONDO:equivalentTo Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0018188 obsolete hereditary intestinal polyposis Orphanet:363314 MONDO:equivalentTo Genetic intestinal polyposis semapv:UnspecifiedMatching 0.5 +MONDO:0018191 obsolete tumor of testis and paratestis Orphanet:363472 MONDO:equivalentTo Tumor of testis and paratestis semapv:UnspecifiedMatching 0.5 +MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus Orphanet:363567 MONDO:equivalentTo Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching 0.5 +MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Orphanet:364531 MONDO:equivalentTo Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching 0.5 +MONDO:0018232 obsolete primary bone dysplasia with micromelia Orphanet:364536 MONDO:equivalentTo Primary bone dysplasia with micromelia semapv:UnspecifiedMatching 0.5 +MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature Orphanet:364568 MONDO:equivalentTo Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature Orphanet:364571 MONDO:equivalentTo Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0018239 obsolete aggrecan-related bone disorder Orphanet:364817 MONDO:equivalentTo Aggrecan-related bone disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome Orphanet:369886 MONDO:equivalentTo Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0018262 obsolete fetal anticonvulsant syndrome Orphanet:370068 MONDO:equivalentTo Fetal anticonvulsant syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation Orphanet:370106 MONDO:equivalentTo Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching 0.5 +MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan Orphanet:371040 MONDO:equivalentTo Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching 0.5 +MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement Orphanet:371047 MONDO:equivalentTo Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching 0.5 +MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature Orphanet:371071 MONDO:equivalentTo Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement Orphanet:371157 MONDO:equivalentTo Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching 0.5 +MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature Orphanet:371183 MONDO:equivalentTo Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement Orphanet:371188 MONDO:equivalentTo Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching 0.5 +MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder Orphanet:371195 MONDO:equivalentTo Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement Orphanet:371200 MONDO:equivalentTo Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching 0.5 +MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature Orphanet:371207 MONDO:equivalentTo Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature Orphanet:371212 MONDO:equivalentTo Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly Orphanet:371235 MONDO:equivalentTo Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0018299 obsolete sphingolipidosis with epilepsy Orphanet:371442 MONDO:equivalentTo Sphingolipidosis with epilepsy semapv:UnspecifiedMatching 0.5 +MONDO:0018318 obsolete disorder of asparagine metabolism Orphanet:391381 MONDO:equivalentTo Disorder of asparagine metabolism semapv:UnspecifiedMatching 0.5 +MONDO:0018329 obsolete persistent combined dystonia Orphanet:391711 MONDO:equivalentTo Persistent combined dystonia semapv:UnspecifiedMatching 0.5 +MONDO:0018368 primary peritoneal serous/papillary carcinoma Orphanet:398980 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0018377 obsolete rare hereditary disease with avascular necrosis Orphanet:399185 MONDO:equivalentTo Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching 0.5 +MONDO:0018384 obsolete avascular necrosis of genetic origin Orphanet:399388 MONDO:equivalentTo Avascular necrosis of genetic origin semapv:UnspecifiedMatching 0.5 +MONDO:0018385 obsolete osteochondrosis of genetic origin Orphanet:399391 MONDO:equivalentTo Osteochondrosis of genetic origin semapv:UnspecifiedMatching 0.5 +MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder Orphanet:399572 MONDO:equivalentTo Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018387 obsolete rare male infertility due to adrenal disorder Orphanet:399584 MONDO:equivalentTo Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder Orphanet:399685 MONDO:equivalentTo Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder Orphanet:399764 MONDO:equivalentTo Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018390 obsolete male infertility due to sperm disorder Orphanet:399771 MONDO:equivalentTo Male infertility due to sperm disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018391 obsolete male infertility with spermatogenesis disorder Orphanet:399775 MONDO:equivalentTo Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation Orphanet:399786 MONDO:equivalentTo Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching 0.5 +MONDO:0018395 obsolete male infertility due to sperm motility disorder Orphanet:399813 MONDO:equivalentTo Male infertility due to sperm motility disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia Orphanet:399824 MONDO:equivalentTo Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 +MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder Orphanet:399831 MONDO:equivalentTo Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism Orphanet:399839 MONDO:equivalentTo Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 +MONDO:0018400 obsolete rare female infertility due to an adrenal disorder Orphanet:399849 MONDO:equivalentTo Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function Orphanet:399853 MONDO:equivalentTo Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching 0.5 +MONDO:0018402 obsolete female infertility due to gonadal dysgenesis Orphanet:399877 MONDO:equivalentTo Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 +MONDO:0018403 obsolete female infertility due to an implantation defect Orphanet:399882 MONDO:equivalentTo Rare female infertility due to an implantation defect semapv:UnspecifiedMatching 0.5 +MONDO:0018404 obsolete rare genetic male infertility Orphanet:399980 MONDO:equivalentTo Rare genetic male infertility semapv:UnspecifiedMatching 0.5 +MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Orphanet:399983 MONDO:equivalentTo Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 +MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin Orphanet:399994 MONDO:equivalentTo Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 +MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin Orphanet:399998 MONDO:equivalentTo Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching 0.5 +MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia Orphanet:400003 MONDO:equivalentTo Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 +MONDO:0018410 obsolete rare genetic female infertility Orphanet:400008 MONDO:equivalentTo Rare genetic female infertility semapv:UnspecifiedMatching 0.5 +MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Orphanet:400011 MONDO:equivalentTo Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 +MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin Orphanet:400018 MONDO:equivalentTo Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 +MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin Orphanet:400022 MONDO:equivalentTo Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching 0.5 +MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin Orphanet:400025 MONDO:equivalentTo Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching 0.5 +MONDO:0018444 obsolete female infertility due to fertilization defect Orphanet:404469 MONDO:equivalentTo Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching 0.5 +MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy Orphanet:404538 MONDO:equivalentTo X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0018454 obsolete dysostosis of genetic origin Orphanet:404568 MONDO:equivalentTo Dysostosis of genetic origin semapv:UnspecifiedMatching 0.5 +MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature Orphanet:404571 MONDO:equivalentTo Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0018457 obsolete rare genetic bone development disorder Orphanet:404584 MONDO:equivalentTo Rare genetic bone development disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018488 obsolete rare genetic odontal or periodontal disorder Orphanet:420755 MONDO:equivalentTo Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum Orphanet:423655 MONDO:equivalentTo ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching 0.5 +MONDO:0018497 obsolete rare autonomic nervous system disorder Orphanet:423662 MONDO:equivalentTo Rare autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018501 obsolete rare carcinoma of stomach Orphanet:423771 MONDO:equivalentTo Rare carcinoma of stomach semapv:UnspecifiedMatching 0.5 +MONDO:0018520 obsolete rare epithelial tumor of pancreas Orphanet:424033 MONDO:equivalentTo Rare epithelial tumor of pancreas semapv:UnspecifiedMatching 0.5 +MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 Orphanet:424925 MONDO:equivalentTo Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching 0.5 +MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome Orphanet:425003 MONDO:equivalentTo Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection Orphanet:431156 MONDO:equivalentTo Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching 0.5 +MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies Orphanet:431263 MONDO:equivalentTo Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching 0.5 +MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder Orphanet:431320 MONDO:equivalentTo Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018557 obsolete rare genetic autonomic nervous system disorder Orphanet:434786 MONDO:equivalentTo Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018558 obsolete syndrome with wooly hair Orphanet:434809 MONDO:equivalentTo Syndrome with woolly hair semapv:UnspecifiedMatching 0.5 +MONDO:0018562 obsolete hereditary otorhinolaryngological malformation Orphanet:435603 MONDO:equivalentTo Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 +MONDO:0018579 obsolete disorder of ketone body transport Orphanet:438072 MONDO:equivalentTo Disorder of keton body transport semapv:UnspecifiedMatching 0.5 +MONDO:0018609 obsolete syndromic hereditary optic neuropathy Orphanet:441434 MONDO:equivalentTo Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0018652 obsolete biological anomaly without phenotypic characterization Orphanet:447874 MONDO:equivalentTo Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching 0.5 +MONDO:0018701 obsolete congenital nemaline myopathy Orphanet:457074 MONDO:equivalentTo Congenital nemaline myopathy semapv:UnspecifiedMatching 0.5 +MONDO:0018718 obsolete vascular tumor with associated anomalies Orphanet:458827 MONDO:equivalentTo Vascular tumor with associated anomalies semapv:UnspecifiedMatching 0.5 +MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies Orphanet:458830 MONDO:equivalentTo Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching 0.5 +MONDO:0018720 obsolete common cystic lymphatic malformation Orphanet:458833 MONDO:equivalentTo Common cystic lymphatic malformation semapv:UnspecifiedMatching 0.5 +MONDO:0018721 obsolete rare combined vascular malformation Orphanet:458837 MONDO:equivalentTo Rare combined vascular malformation semapv:UnspecifiedMatching 0.5 +MONDO:0018723 obsolete rare vascular malformation of major vessels Orphanet:458844 MONDO:equivalentTo Rare vascular malformation of major vessels semapv:UnspecifiedMatching 0.5 +MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency Orphanet:459348 MONDO:equivalentTo Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching 0.5 +MONDO:0018728 obsolete rare genetic capillary malformation Orphanet:459526 MONDO:equivalentTo Rare genetic capillary malformation semapv:UnspecifiedMatching 0.5 +MONDO:0018729 obsolete genetic vascular tumor Orphanet:459543 MONDO:equivalentTo Rare genetic vascular tumor semapv:UnspecifiedMatching 0.5 +MONDO:0018730 obsolete rare genetic venous malformation Orphanet:459548 MONDO:equivalentTo Rare genetic venous malformation semapv:UnspecifiedMatching 0.5 +MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome Orphanet:459787 MONDO:equivalentTo Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease Orphanet:464764 MONDO:equivalentTo Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 +MONDO:0018753 obsolete rare disease with malignant hyperthermia Orphanet:466658 MONDO:equivalentTo Rare disease with malignant hyperthermia semapv:UnspecifiedMatching 0.5 +MONDO:0018771 obsolete congenital anomaly of ventricular septum Orphanet:474347 MONDO:equivalentTo Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching 0.5 +MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy Orphanet:476109 MONDO:equivalentTo Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome Orphanet:476403 MONDO:equivalentTo Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0018787 obsolete genetic cerebral small vessel disease Orphanet:477754 MONDO:equivalentTo Genetic cerebral small vessel disease semapv:UnspecifiedMatching 0.5 +MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease Orphanet:477759 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 +MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency Orphanet:477762 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy semapv:UnspecifiedMatching 0.5 +MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency Orphanet:477765 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy semapv:UnspecifiedMatching 0.5 +MONDO:0018791 obsolete Moyomoya angiopathy Orphanet:477768 MONDO:equivalentTo Moyamoya angiopathy semapv:UnspecifiedMatching 0.5 +MONDO:0018792 obsolete Moyamoya syndrome Orphanet:477771 MONDO:equivalentTo Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching 0.5 +MONDO:0018796 obsolete isolated constitutional thrombocytopenia Orphanet:477797 MONDO:equivalentTo Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 +MONDO:0018797 obsolete genetic cardiac malformation Orphanet:477805 MONDO:equivalentTo Genetic cardiac malformation semapv:UnspecifiedMatching 0.5 +MONDO:0018798 obsolete other genetic dermis disorder Orphanet:477808 MONDO:equivalentTo Other genetic dermis disorder semapv:UnspecifiedMatching 0.5 +MONDO:0018799 obsolete rare hypercholesterolemia Orphanet:477811 MONDO:equivalentTo Rare hypercholesterolemia semapv:UnspecifiedMatching 0.5 +MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease Orphanet:482072 MONDO:equivalentTo HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 +MONDO:0018833 obsolete rare idiopathic macular telangiectasia Orphanet:482092 MONDO:equivalentTo Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching 0.5 +MONDO:0018880 obsolete rare teratologic disease Orphanet:52662 MONDO:equivalentTo Rare teratologic disease semapv:UnspecifiedMatching 0.5 +MONDO:0018928 obsolete rare hepatic disease Orphanet:57146 MONDO:equivalentTo Rare hepatic disease semapv:UnspecifiedMatching 0.5 +MONDO:0018972 obsolete rare epithelial tumor of stomach Orphanet:63443 MONDO:equivalentTo Rare epithelial tumor of stomach semapv:UnspecifiedMatching 0.5 +MONDO:0019038 obsolete rare maxillo-facial surgical disease Orphanet:68329 MONDO:equivalentTo Rare maxillo-facial surgical disease semapv:UnspecifiedMatching 0.5 +MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect Orphanet:68334 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 +MONDO:0019041 obsolete rare genetic inherited tumor Orphanet:68336 MONDO:equivalentTo Rare genetic tumor semapv:UnspecifiedMatching 0.5 +MONDO:0019043 obsolete rare genetic skin disease Orphanet:68346 MONDO:equivalentTo Rare genetic skin disease semapv:UnspecifiedMatching 0.5 +MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues Orphanet:68347 MONDO:equivalentTo Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 +MONDO:0019047 obsolete rare deafness Orphanet:68361 MONDO:equivalentTo Rare deafness semapv:UnspecifiedMatching 0.5 +MONDO:0019048 obsolete rare vascular disease Orphanet:68362 MONDO:equivalentTo Rare vascular disease semapv:UnspecifiedMatching 0.5 +MONDO:0019049 obsolete rare dystonia Orphanet:68363 MONDO:equivalentTo Rare dystonia semapv:UnspecifiedMatching 0.5 +MONDO:0019058 obsolete neurometabolic disease Orphanet:68385 MONDO:equivalentTo Neurometabolic disease semapv:UnspecifiedMatching 0.5 +MONDO:0019059 obsolete rare parkinsonian disorder Orphanet:68402 MONDO:equivalentTo Rare parkinsonian disorder semapv:UnspecifiedMatching 0.5 +MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly Orphanet:68415 MONDO:equivalentTo Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0019062 obsolete rare infectious disease Orphanet:68416 MONDO:equivalentTo Rare infectious disease semapv:UnspecifiedMatching 0.5 +MONDO:0019063 obsolete vascular anomaly Orphanet:68419 MONDO:equivalentTo Vascular anomaly or angioma semapv:UnspecifiedMatching 0.5 +MONDO:0019066 obsolete syndrome with brachydactyly Orphanet:69028 MONDO:equivalentTo Dysostosis with brachydactyly semapv:UnspecifiedMatching 0.5 +MONDO:0019096 obsolete rare pulmonary hypertension Orphanet:71198 MONDO:equivalentTo Rare pulmonary hypertension semapv:UnspecifiedMatching 0.5 +MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly Orphanet:71202 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0019099 obsolete rare soft tissue tumor Orphanet:71209 MONDO:equivalentTo Rare soft tissue tumor semapv:UnspecifiedMatching 0.5 +MONDO:0019110 obsolete rare central nervous system or retinal vascular disease Orphanet:71281 MONDO:equivalentTo Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 +MONDO:0019117 obsolete genetic nervous system disorder Orphanet:71859 MONDO:equivalentTo Rare genetic neurological disorder semapv:UnspecifiedMatching 0.5 +MONDO:0019183 obsolete inherited odontologic disease Orphanet:77830 MONDO:equivalentTo Rare genetic odontologic disease semapv:UnspecifiedMatching 0.5 +MONDO:0019252 obsolete other metabolic disease with skin involvement Orphanet:79217 MONDO:equivalentTo Other metabolic disease with skin involvement semapv:UnspecifiedMatching 0.5 +MONDO:0019271 obsolete acrokeratoderma Orphanet:79356 MONDO:equivalentTo Acrokeratoderma semapv:UnspecifiedMatching 0.5 +MONDO:0019274 obsolete other epidermal disorder Orphanet:79359 MONDO:equivalentTo Other epidermal disorder semapv:UnspecifiedMatching 0.5 +MONDO:0019275 obsolete other genetic epidermal disease Orphanet:79360 MONDO:equivalentTo Other genetic epidermal disease semapv:UnspecifiedMatching 0.5 +MONDO:0019277 obsolete epidermal appendage anomaly Orphanet:79362 MONDO:equivalentTo Epidermal appendage anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0019281 obsolete isolated genetic hair shaft abnormality Orphanet:79366 MONDO:equivalentTo Isolated hair shaft abnormality semapv:UnspecifiedMatching 0.5 +MONDO:0019282 obsolete syndromic hair shaft abnormality Orphanet:79367 MONDO:equivalentTo Syndromic hair shaft abnormality semapv:UnspecifiedMatching 0.5 +MONDO:0019285 obsolete syndromic nail anomaly Orphanet:79370 MONDO:equivalentTo Syndromic nail anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0019286 obsolete sebaceous gland anomaly Orphanet:79372 MONDO:equivalentTo Sebaceous gland anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0019292 obsolete dermis elastic tissue disorder Orphanet:79378 MONDO:equivalentTo Dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 +MONDO:0019298 obsolete rare urticaria Orphanet:79384 MONDO:equivalentTo Rare urticaria semapv:UnspecifiedMatching 0.5 +MONDO:0019299 obsolete unclassified genetic skin disorder Orphanet:79385 MONDO:equivalentTo Unclassified genetic skin disorder semapv:UnspecifiedMatching 0.5 +MONDO:0019300 obsolete rare skin tumor or hamartoma Orphanet:79386 MONDO:equivalentTo Rare skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 +MONDO:0019301 obsolete metabolic disease with skin involvement Orphanet:79387 MONDO:equivalentTo Metabolic disease with skin involvement semapv:UnspecifiedMatching 0.5 +MONDO:0019304 obsolete rare photodermatosis Orphanet:79390 MONDO:equivalentTo Rare photodermatosis semapv:UnspecifiedMatching 0.5 +MONDO:0019305 obsolete immune deficiency with skin involvement Orphanet:79391 MONDO:equivalentTo Immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 +MONDO:0019491 obsolete rare intellectual disability Orphanet:87277 MONDO:equivalentTo Rare intellectual disability semapv:UnspecifiedMatching 0.5 +MONDO:0019513 obsolete esophageal malformation Orphanet:88993 MONDO:equivalentTo Esophageal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0019515 obsolete rare dementia Orphanet:89043 MONDO:equivalentTo Rare dementia semapv:UnspecifiedMatching 0.5 +MONDO:0019519 obsolete rare skin disease Orphanet:89826 MONDO:equivalentTo Rare skin disease semapv:UnspecifiedMatching 0.5 +MONDO:0019546 obsolete other acquired skin disease Orphanet:90077 MONDO:equivalentTo Other acquired skin disease semapv:UnspecifiedMatching 0.5 +MONDO:0019590 obsolete rare endocrine growth disease Orphanet:90692 MONDO:equivalentTo Rare endocrine growth disease semapv:UnspecifiedMatching 0.5 +MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess Orphanet:90776 MONDO:equivalentTo 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching 0.5 +MONDO:0019599 obsolete primary lipodystrophy Orphanet:90970 MONDO:equivalentTo Primary lipodystrophy semapv:UnspecifiedMatching 0.5 +MONDO:0019602 obsolete other inborn metabolic disease Orphanet:91088 MONDO:equivalentTo Other metabolic disease semapv:UnspecifiedMatching 0.5 +MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen Orphanet:91144 MONDO:equivalentTo 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching 0.5 +MONDO:0019619 obsolete duplication of the esophagus Orphanet:91357 MONDO:equivalentTo Duplication of the esophagus semapv:UnspecifiedMatching 0.5 +MONDO:0019684 obsolete rare bone disease Orphanet:93419 MONDO:equivalentTo Rare bone disease semapv:UnspecifiedMatching 0.5 +MONDO:0019688 obsolete sulfation-related bone disorder Orphanet:93423 MONDO:equivalentTo Sulfation-related bone disorder semapv:UnspecifiedMatching 0.5 +MONDO:0019689 obsolete perlecan-related bone disorder Orphanet:93424 MONDO:equivalentTo Perlecan-related bone disorder semapv:UnspecifiedMatching 0.5 +MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia Orphanet:93429 MONDO:equivalentTo Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching 0.5 +MONDO:0019704 obsolete primary bone dysplasia with decreased bone density Orphanet:93446 MONDO:equivalentTo Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching 0.5 +MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization Orphanet:93447 MONDO:equivalentTo Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching 0.5 +MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect Orphanet:93451 MONDO:equivalentTo Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching 0.5 +MONDO:0019712 obsolete patellar dysostosis Orphanet:93455 MONDO:equivalentTo Patellar dysostosis semapv:UnspecifiedMatching 0.5 +MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy Orphanet:93458 MONDO:equivalentTo Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching 0.5 +MONDO:0019717 obsolete chromosomal disease with overgrowth Orphanet:93461 MONDO:equivalentTo Chromosomal disease with overgrowth semapv:UnspecifiedMatching 0.5 +MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease Orphanet:93593 MONDO:equivalentTo Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching 0.5 +MONDO:0019744 obsolete rare renal tubular disease Orphanet:93603 MONDO:equivalentTo Rare renal tubular disease semapv:UnspecifiedMatching 0.5 +MONDO:0019747 obsolete hematological disorder with renal involvement Orphanet:93614 MONDO:equivalentTo Hematological disorder with renal involvement semapv:UnspecifiedMatching 0.5 +MONDO:0019748 obsolete rare cause of hypertension Orphanet:93618 MONDO:equivalentTo Rare cause of hypertension semapv:UnspecifiedMatching 0.5 +MONDO:0019749 obsolete rare renal tumor Orphanet:93619 MONDO:equivalentTo Rare renal tumor semapv:UnspecifiedMatching 0.5 +MONDO:0019750 obsolete rare renal disease Orphanet:93626 MONDO:equivalentTo Rare renal disease semapv:UnspecifiedMatching 0.5 +MONDO:0019800 obsolete chronic hepatic porphyria Orphanet:95161 MONDO:equivalentTo Chronic hepatic porphyria semapv:UnspecifiedMatching 0.5 +MONDO:0019822 obsolete arterial duct anomaly Orphanet:95485 MONDO:equivalentTo Arterial duct anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency Orphanet:95495 MONDO:equivalentTo Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching 0.5 +MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin Orphanet:95503 MONDO:equivalentTo Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching 0.5 +MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin Orphanet:95505 MONDO:equivalentTo Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching 0.5 +MONDO:0019841 obsolete pituitary hormone defiency from vascular origin Orphanet:95611 MONDO:equivalentTo Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching 0.5 +MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease Orphanet:95617 MONDO:equivalentTo Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching 0.5 +MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease Orphanet:95618 MONDO:equivalentTo Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching 0.5 +MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly Orphanet:95714 MONDO:equivalentTo Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism Orphanet:95718 MONDO:equivalentTo Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching 0.5 +MONDO:0019936 obsolete rare otorhinolaryngological malformation Orphanet:96333 MONDO:equivalentTo Rare otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 +MONDO:0019937 obsolete rare gynecologic or obstetric disease Orphanet:96344 MONDO:equivalentTo Rare gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 +MONDO:0019965 obsolete rare benign ovarian tumor Orphanet:97293 MONDO:equivalentTo Rare benign ovarian tumor semapv:UnspecifiedMatching 0.5 +MONDO:0019996 obsolete rare cardiac disease Orphanet:97929 MONDO:equivalentTo Rare cardiac disease semapv:UnspecifiedMatching 0.5 +MONDO:0019997 obsolete rare gastroenterologic disease Orphanet:97935 MONDO:equivalentTo Rare gastroenterologic disease semapv:UnspecifiedMatching 0.5 +MONDO:0019998 obsolete gastroduodenal malformation Orphanet:97944 MONDO:equivalentTo Gastroduodenal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0020000 obsolete rare respiratory disease Orphanet:97955 MONDO:equivalentTo Rare respiratory disease semapv:UnspecifiedMatching 0.5 +MONDO:0020002 obsolete rare surgical thoracic disease Orphanet:97962 MONDO:equivalentTo Rare surgical thoracic disease semapv:UnspecifiedMatching 0.5 +MONDO:0020003 obsolete rare surgical cardiac disease Orphanet:97965 MONDO:equivalentTo Rare surgical cardiac disease semapv:UnspecifiedMatching 0.5 +MONDO:0020004 obsolete rare eye disease Orphanet:97966 MONDO:equivalentTo Rare ophthalmic disorder semapv:UnspecifiedMatching 0.5 +MONDO:0020005 obsolete rare endocrine disease Orphanet:97978 MONDO:equivalentTo Rare endocrine disease semapv:UnspecifiedMatching 0.5 +MONDO:0020008 obsolete rare immune disease Orphanet:98004 MONDO:equivalentTo Rare immune disease semapv:UnspecifiedMatching 0.5 +MONDO:0020009 obsolete rare neurologic disease Orphanet:98006 MONDO:equivalentTo Rare neurologic disease semapv:UnspecifiedMatching 0.5 +MONDO:0020011 obsolete rare headache disorder Orphanet:98022 MONDO:equivalentTo Rare headache semapv:UnspecifiedMatching 0.5 +MONDO:0020013 obsolete rare odontologic disease Orphanet:98026 MONDO:equivalentTo Rare odontologic disease semapv:UnspecifiedMatching 0.5 +MONDO:0020014 obsolete rare disease with odontological manifestation Orphanet:98027 MONDO:equivalentTo Rare disease with odontological manifestation semapv:UnspecifiedMatching 0.5 +MONDO:0020015 obsolete rare circulatory system disease Orphanet:98028 MONDO:equivalentTo Rare circulatory system disease semapv:UnspecifiedMatching 0.5 +MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement Orphanet:98033 MONDO:equivalentTo Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching 0.5 +MONDO:0020017 obsolete rare otorhinolaryngologic disease Orphanet:98036 MONDO:equivalentTo Rare otorhinolaryngologic disease semapv:UnspecifiedMatching 0.5 +MONDO:0020018 obsolete cranial malformation Orphanet:98038 MONDO:equivalentTo Cranial malformation semapv:UnspecifiedMatching 0.5 +MONDO:0020019 obsolete digestive tract malformation Orphanet:98039 MONDO:equivalentTo Digestive tract malformation semapv:UnspecifiedMatching 0.5 +MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen Orphanet:98041 MONDO:equivalentTo Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 +MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation Orphanet:98043 MONDO:equivalentTo Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 +MONDO:0020023 obsolete respiratory or mediastinal malformation Orphanet:98045 MONDO:equivalentTo Respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0020024 obsolete rare infertility Orphanet:98047 MONDO:equivalentTo Rare infertility semapv:UnspecifiedMatching 0.5 +MONDO:0020025 obsolete rare male infertility Orphanet:98048 MONDO:equivalentTo Rare male infertility semapv:UnspecifiedMatching 0.5 +MONDO:0020026 obsolete rare female infertility Orphanet:98049 MONDO:equivalentTo Rare female infertility semapv:UnspecifiedMatching 0.5 +MONDO:0020027 obsolete rare allergic disease Orphanet:98050 MONDO:equivalentTo Rare allergic disease semapv:UnspecifiedMatching 0.5 +MONDO:0020028 obsolete rare allergic respiratory disease Orphanet:98052 MONDO:equivalentTo Rare allergic respiratory disease semapv:UnspecifiedMatching 0.5 +MONDO:0020029 obsolete rare genetic cardiac disease Orphanet:98054 MONDO:equivalentTo Rare genetic cardiac disease semapv:UnspecifiedMatching 0.5 +MONDO:0020030 obsolete rare genetic renal disease Orphanet:98056 MONDO:equivalentTo Rare genetic renal disease semapv:UnspecifiedMatching 0.5 +MONDO:0020032 obsolete rare urinary tract tumor Orphanet:98058 MONDO:equivalentTo Rare urinary tract tumor semapv:UnspecifiedMatching 0.5 +MONDO:0020033 obsolete rare digestive tumor Orphanet:98059 MONDO:equivalentTo Rare digestive tumor semapv:UnspecifiedMatching 0.5 +MONDO:0020034 obsolete rare respiratory tract neoplasm Orphanet:98060 MONDO:equivalentTo Rare respiratory tumor semapv:UnspecifiedMatching 0.5 +MONDO:0020035 obsolete rare otorhinolaryngologic tumor Orphanet:98061 MONDO:equivalentTo Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching 0.5 +MONDO:0020036 obsolete rare nervous system tumor Orphanet:98062 MONDO:equivalentTo Rare nervous system tumor semapv:UnspecifiedMatching 0.5 +MONDO:0020037 obsolete rare gynecological tumor Orphanet:98063 MONDO:equivalentTo Rare gynecological tumor semapv:UnspecifiedMatching 0.5 +MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest Orphanet:98074 MONDO:equivalentTo Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching 0.5 +MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess Orphanet:98078 MONDO:equivalentTo 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching 0.5 +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development Orphanet:98087 MONDO:equivalentTo Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 +MONDO:0020051 obsolete total autosomal trisomy Orphanet:98131 MONDO:equivalentTo Total autosomal trisomy semapv:UnspecifiedMatching 0.5 +MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy Orphanet:98132 MONDO:equivalentTo Partial autosomal duplication/triplication semapv:UnspecifiedMatching 0.5 +MONDO:0020053 obsolete total autosomal monosomy Orphanet:98141 MONDO:equivalentTo Total autosomal monosomy semapv:UnspecifiedMatching 0.5 +MONDO:0020055 obsolete autosomal uniparental disomy Orphanet:98152 MONDO:equivalentTo Autosomal uniparental disomy semapv:UnspecifiedMatching 0.5 +MONDO:0020059 obsolete gonosome number anomaly Orphanet:98156 MONDO:equivalentTo Sex-chromosome number anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020060 obsolete gonosome structural anomaly Orphanet:98157 MONDO:equivalentTo Sex-chromosome structural anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020062 obsolete chromosome X structural anomaly Orphanet:98159 MONDO:equivalentTo Chromosome X structural anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020063 obsolete malformation syndrome with hamartosis Orphanet:98196 MONDO:equivalentTo Malformation syndrome with hamartosis semapv:UnspecifiedMatching 0.5 +MONDO:0020069 obsolete chronic encephalitis Orphanet:98255 MONDO:equivalentTo Chronic encephalitis semapv:UnspecifiedMatching 0.5 +MONDO:0020090 obsolete male infertility due to gonadal dysgenesis Orphanet:98313 MONDO:equivalentTo Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 +MONDO:0020091 obsolete male infertility due to obstructive azoospermia Orphanet:98343 MONDO:equivalentTo Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching 0.5 +MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma Orphanet:98349 MONDO:equivalentTo Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 +MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature Orphanet:98352 MONDO:equivalentTo Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature Orphanet:98353 MONDO:equivalentTo Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma Orphanet:98356 MONDO:equivalentTo Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 +MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature Orphanet:98357 MONDO:equivalentTo Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder Orphanet:98360 MONDO:equivalentTo Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching 0.5 +MONDO:0020100 obsolete rare hemolytic anemia Orphanet:98363 MONDO:equivalentTo Rare hemolytic anemia semapv:UnspecifiedMatching 0.5 +MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect Orphanet:98364 MONDO:equivalentTo Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder Orphanet:98369 MONDO:equivalentTo Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching 0.5 +MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies Orphanet:98370 MONDO:equivalentTo Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching 0.5 +MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder Orphanet:98396 MONDO:equivalentTo Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching 0.5 +MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder Orphanet:98408 MONDO:equivalentTo Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching 0.5 +MONDO:0020116 obsolete rare blood coagulation disease Orphanet:98429 MONDO:equivalentTo Rare coagulation disorder semapv:UnspecifiedMatching 0.5 +MONDO:0020125 obsolete acquired neuromuscular junction disease Orphanet:98494 MONDO:equivalentTo Acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 +MONDO:0020126 obsolete rare peripheral neuropathy Orphanet:98496 MONDO:equivalentTo Rare peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0020130 obsolete malformation of the cerebellar vermis Orphanet:98514 MONDO:equivalentTo Malformation of the cerebellar vermis semapv:UnspecifiedMatching 0.5 +MONDO:0020131 obsolete malformation of the cerebellar hemispheres Orphanet:98516 MONDO:equivalentTo Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching 0.5 +MONDO:0020132 obsolete cranial nerve and nuclear aplasia Orphanet:98518 MONDO:equivalentTo Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching 0.5 +MONDO:0020133 obsolete posterior fossa malformation Orphanet:98519 MONDO:equivalentTo Posterior fossa malformation semapv:UnspecifiedMatching 0.5 +MONDO:0020136 obsolete neurodegenerative disease with dementia Orphanet:98534 MONDO:equivalentTo Neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 +MONDO:0020137 obsolete frontotemporal degeneration with dementia Orphanet:98535 MONDO:equivalentTo Frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 +MONDO:0020138 obsolete ataxia with dementia Orphanet:98538 MONDO:equivalentTo Ataxia with dementia semapv:UnspecifiedMatching 0.5 +MONDO:0020139 obsolete early-onset ataxia with dementia Orphanet:98539 MONDO:equivalentTo Early-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 +MONDO:0020140 obsolete late-onset ataxia with dementia Orphanet:98540 MONDO:equivalentTo Late-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 +MONDO:0020141 obsolete infectious disease with dementia Orphanet:98542 MONDO:equivalentTo Infectious disease with dementia semapv:UnspecifiedMatching 0.5 +MONDO:0020142 obsolete metabolic disease with dementia Orphanet:98543 MONDO:equivalentTo Metabolic disease with dementia semapv:UnspecifiedMatching 0.5 +MONDO:0020144 obsolete cerebrovascular dementia Orphanet:98549 MONDO:equivalentTo Rare cerebrovascular dementia semapv:UnspecifiedMatching 0.5 +MONDO:0020148 obsolete syndromic aniridia Orphanet:98557 MONDO:equivalentTo Syndromic aniridia semapv:UnspecifiedMatching 0.5 +MONDO:0020151 obsolete rare palpebral disease Orphanet:98560 MONDO:equivalentTo Rare palpebral disorder semapv:UnspecifiedMatching 0.5 +MONDO:0020152 obsolete rare eyelid malformation Orphanet:98561 MONDO:equivalentTo Congenital malformation of the eyelid semapv:UnspecifiedMatching 0.5 +MONDO:0020154 obsolete microblepharon-ablephara syndrome Orphanet:98563 MONDO:equivalentTo Microblepharon-ablephara syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0020155 obsolete eyelid border anomaly Orphanet:98564 MONDO:equivalentTo Eyelid border anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020156 obsolete syndromic ankyloblepharon Orphanet:98565 MONDO:equivalentTo Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching 0.5 +MONDO:0020157 obsolete syndromic palpebral coloboma Orphanet:98566 MONDO:equivalentTo Syndromic eyelid coloboma semapv:UnspecifiedMatching 0.5 +MONDO:0020158 obsolete eyelids malposition disorder Orphanet:98567 MONDO:equivalentTo Rare eyelid malposition disorder semapv:UnspecifiedMatching 0.5 +MONDO:0020162 obsolete secondary ectropion Orphanet:98571 MONDO:equivalentTo Secondary ectropion semapv:UnspecifiedMatching 0.5 +MONDO:0020165 obsolete syndromic epicanthus Orphanet:98574 MONDO:equivalentTo Syndromic epicanthus semapv:UnspecifiedMatching 0.5 +MONDO:0020167 obsolete malposition of external canthus Orphanet:98576 MONDO:equivalentTo Syndromic outer canthal malposition semapv:UnspecifiedMatching 0.5 +MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly Orphanet:98594 MONDO:equivalentTo Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching 0.5 +MONDO:0020192 obsolete rare lacrimal system disease Orphanet:98602 MONDO:equivalentTo Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching 0.5 +MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly Orphanet:98605 MONDO:equivalentTo Lacrimal drainage system anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020197 obsolete EEC syndrome and related syndrome Orphanet:98609 MONDO:equivalentTo EEC syndrome and related disorders semapv:UnspecifiedMatching 0.5 +MONDO:0020198 obsolete rare conjunctival disease Orphanet:98610 MONDO:equivalentTo Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0020206 obsolete rare refraction anomaly Orphanet:98618 MONDO:equivalentTo Rare refraction anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020209 obsolete rare hyperopia and astigmatism Orphanet:98621 MONDO:equivalentTo Rare hyperopia and astigmatism semapv:UnspecifiedMatching 0.5 +MONDO:0020210 obsolete syndromic hyperopia Orphanet:98622 MONDO:equivalentTo Syndromic hyperopia semapv:UnspecifiedMatching 0.5 +MONDO:0020211 obsolete syndromic keratoconus Orphanet:98623 MONDO:equivalentTo Syndromic keratoconus semapv:UnspecifiedMatching 0.5 +MONDO:0020216 obsolete secondary dysgenetic glaucoma Orphanet:98631 MONDO:equivalentTo Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0020219 obsolete corneogoniodysgenesis Orphanet:98635 MONDO:equivalentTo Corneodysgenesis semapv:UnspecifiedMatching 0.5 +MONDO:0020222 obsolete rare disease with glaucoma as a major feature Orphanet:98638 MONDO:equivalentTo Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0020223 obsolete lens and zonula anomaly Orphanet:98639 MONDO:equivalentTo Rare lens disease semapv:UnspecifiedMatching 0.5 +MONDO:0020224 obsolete rare cataract Orphanet:98640 MONDO:equivalentTo Rare disorder with lens opacification semapv:UnspecifiedMatching 0.5 +MONDO:0020225 obsolete syndromic cataract Orphanet:98641 MONDO:equivalentTo Syndromic cataract semapv:UnspecifiedMatching 0.5 +MONDO:0020226 obsolete chromosomal anomaly with cataract Orphanet:98642 MONDO:equivalentTo Chromosomal anomaly with cataract semapv:UnspecifiedMatching 0.5 +MONDO:0020228 obsolete cataract associated with a metabolic disease Orphanet:98644 MONDO:equivalentTo Metabolic disease with cataract semapv:UnspecifiedMatching 0.5 +MONDO:0020230 obsolete renal disease with cataract Orphanet:98646 MONDO:equivalentTo Renal disease with cataract semapv:UnspecifiedMatching 0.5 +MONDO:0020232 obsolete musculoskeletal disease with cataract Orphanet:98648 MONDO:equivalentTo Musculoskeletal disease with cataract semapv:UnspecifiedMatching 0.5 +MONDO:0020233 obsolete dentocutaneous disease with cataract Orphanet:98649 MONDO:equivalentTo Dentocutaneous disease with cataract semapv:UnspecifiedMatching 0.5 +MONDO:0020234 obsolete craniofacial anomaly with cataract Orphanet:98650 MONDO:equivalentTo Craniofacial anomaly with cataract semapv:UnspecifiedMatching 0.5 +MONDO:0020235 obsolete lens size anomaly Orphanet:98652 MONDO:equivalentTo Lens size anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020236 obsolete lens position anomaly Orphanet:98653 MONDO:equivalentTo Lens position anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020237 obsolete lens shape anomaly Orphanet:98655 MONDO:equivalentTo Lens shape anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020240 obsolete syndromic retinitis pigmentosa Orphanet:98661 MONDO:equivalentTo Syndromic rod-cone dystrophy semapv:UnspecifiedMatching 0.5 +MONDO:0020251 obsolete rare strabismus and restriction syndrome Orphanet:98681 MONDO:equivalentTo Rare disorder with strabismus semapv:UnspecifiedMatching 0.5 +MONDO:0020253 obsolete syndrome with a symptomatic strabismus Orphanet:98683 MONDO:equivalentTo Syndromic disorder with strabismus semapv:UnspecifiedMatching 0.5 +MONDO:0020254 obsolete craniostenosis associated with a strabismus Orphanet:98684 MONDO:equivalentTo Craniostenosis with strabismus semapv:UnspecifiedMatching 0.5 +MONDO:0020284 obsolete heart position anomaly Orphanet:98716 MONDO:equivalentTo Heart position anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly Orphanet:98717 MONDO:equivalentTo Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020286 obsolete aortic malformation Orphanet:98718 MONDO:equivalentTo Aortic malformation semapv:UnspecifiedMatching 0.5 +MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly Orphanet:98719 MONDO:equivalentTo Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020288 obsolete atrioventricular valve anomaly Orphanet:98720 MONDO:equivalentTo Atrioventricular valve anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020293 obsolete ascending aorta anomaly Orphanet:98725 MONDO:equivalentTo Ascending aorta anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0020294 obsolete atrial defect and interatrial communication Orphanet:98727 MONDO:equivalentTo Rare atrial defect and interatrial communication semapv:UnspecifiedMatching 0.5 +MONDO:0020339 obsolete X-linked complex spastic paraplegia Orphanet:98888 MONDO:equivalentTo X-linked complex spastic paraplegia semapv:UnspecifiedMatching 0.5 +MONDO:0020343 obsolete alpha-crystallinopathy Orphanet:98910 MONDO:equivalentTo Alpha-crystallinopathy semapv:UnspecifiedMatching 0.5 +MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency Orphanet:101960 MONDO:equivalentTo Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 +MONDO:0021027 obsolete genetic hair anomaly Orphanet:183450 MONDO:equivalentTo Genetic hair anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0021028 obsolete genetic nail anomaly Orphanet:183454 MONDO:equivalentTo Genetic nail anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0021034 obsolete hereditary alopecia Orphanet:481771 MONDO:equivalentTo Genetic alopecia semapv:UnspecifiedMatching 0.5 +MONDO:0021037 obsolete genetic neurodegenerative disease with dementia Orphanet:276058 MONDO:equivalentTo Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 +MONDO:0021198 obsolete rare genetic disease Orphanet:98053 MONDO:equivalentTo Rare genetic disease semapv:UnspecifiedMatching 0.5 +MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Orphanet:156168 MONDO:equivalentTo Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching 0.5 +MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene Orphanet:156174 MONDO:equivalentTo Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching 0.5 +MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene Orphanet:156177 MONDO:equivalentTo Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching 0.5 +MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene Orphanet:156180 MONDO:equivalentTo Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching 0.5 +MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene Orphanet:156183 MONDO:equivalentTo Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching 0.5 +MONDO:0022409 obsolete nephropathy-associated ciliopathy Orphanet:156162 MONDO:equivalentTo Renal ciliopathy semapv:UnspecifiedMatching 0.5 +MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease Orphanet:138041 MONDO:equivalentTo Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching 0.5 +MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly Orphanet:138047 MONDO:equivalentTo Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies Orphanet:138050 MONDO:equivalentTo Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching 0.5 +MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease Orphanet:138055 MONDO:equivalentTo Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching 0.5 +MONDO:0024471 obsolete non-inflammatory vasculopathy Orphanet:496924 MONDO:equivalentTo Non-inflammatory vasculopathy semapv:UnspecifiedMatching 0.5 +MONDO:0024987 obsolete genetic urogenital tract malformation Orphanet:156622 MONDO:equivalentTo Genetic urogenital tract malformation semapv:UnspecifiedMatching 0.5 +MONDO:0025511 obsolete inherited neuroendocrine tumor Orphanet:271847 MONDO:equivalentTo Genetic neuroendocrine tumor semapv:UnspecifiedMatching 0.5 +MONDO:0026141 obsolete genetic urticaria Orphanet:182734 MONDO:equivalentTo Genetic urticaria semapv:UnspecifiedMatching 0.5 +MONDO:0026150 obsolete genetic erythrokeratoderma Orphanet:183438 MONDO:equivalentTo Genetic erythrokeratoderma semapv:UnspecifiedMatching 0.5 +MONDO:0026151 obsolete genetic acrokeratoderma Orphanet:183441 MONDO:equivalentTo Genetic acrokeratoderma semapv:UnspecifiedMatching 0.5 +MONDO:0026152 obsolete genetic porokeratosis Orphanet:183444 MONDO:equivalentTo Genetic porokeratosis semapv:UnspecifiedMatching 0.5 +MONDO:0026157 obsolete genetic pigmentation anomaly of the skin Orphanet:183463 MONDO:equivalentTo Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching 0.5 +MONDO:0026160 obsolete genetic dermis disorder Orphanet:183472 MONDO:equivalentTo Genetic dermis disorder semapv:UnspecifiedMatching 0.5 +MONDO:0026166 obsolete genetic immune deficiency with skin involvement Orphanet:183494 MONDO:equivalentTo Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 +MONDO:0026167 obsolete genetic neuromuscular disease Orphanet:183497 MONDO:equivalentTo Genetic neuromuscular disease semapv:UnspecifiedMatching 0.5 +MONDO:0026170 obsolete genetic central nervous system malformation Orphanet:183506 MONDO:equivalentTo Genetic central nervous system malformation semapv:UnspecifiedMatching 0.5 +MONDO:0026173 obsolete rare genetic medullar disease Orphanet:183515 MONDO:equivalentTo Rare genetic medullar disease semapv:UnspecifiedMatching 0.5 +MONDO:0026180 obsolete genetic congenital limb malformation Orphanet:183536 MONDO:equivalentTo Genetic congenital limb malformation semapv:UnspecifiedMatching 0.5 +MONDO:0026181 obsolete genetic renal or urinary tract malformation Orphanet:183539 MONDO:equivalentTo Genetic renal or urinary tract malformation semapv:UnspecifiedMatching 0.5 +MONDO:0026182 obsolete genetic cranial malformation Orphanet:183542 MONDO:equivalentTo Genetic cranial malformation semapv:UnspecifiedMatching 0.5 +MONDO:0026183 obsolete genetic digestive tract malformation Orphanet:183545 MONDO:equivalentTo Genetic digestive tract malformation semapv:UnspecifiedMatching 0.5 +MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen Orphanet:183548 MONDO:equivalentTo Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 +MONDO:0026185 obsolete genetic respiratory or mediastinal malformation Orphanet:183554 MONDO:equivalentTo Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0026186 obsolete genetic developmental defect of the eye Orphanet:183557 MONDO:equivalentTo Genetic developmental defect of the eye semapv:UnspecifiedMatching 0.5 +MONDO:0026187 obsolete genetic malformation syndrome with short stature Orphanet:183570 MONDO:equivalentTo Genetic malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 +MONDO:0026188 obsolete genetic overgrowth/obesity syndrome Orphanet:183573 MONDO:equivalentTo Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome Orphanet:183576 MONDO:equivalentTo Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component Orphanet:183580 MONDO:equivalentTo Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 +MONDO:0026192 obsolete genetic glomerular disease Orphanet:183586 MONDO:equivalentTo Genetic glomerular disease semapv:UnspecifiedMatching 0.5 +MONDO:0026193 obsolete genetic thrombotic microangiopathy Orphanet:183589 MONDO:equivalentTo Genetic thrombotic microangiopathy semapv:UnspecifiedMatching 0.5 +MONDO:0026203 obsolete genetic respiratory malformation Orphanet:183622 MONDO:equivalentTo Genetic respiratory malformation semapv:UnspecifiedMatching 0.5 +MONDO:0026209 obsolete genetic polyendocrinopathy Orphanet:183643 MONDO:equivalentTo Genetic polyendocrinopathy semapv:UnspecifiedMatching 0.5 +MONDO:0027652 5-fluorouracil toxicity Orphanet:240839 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0027653 abacavir toxicity Orphanet:240841 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0027655 allopurinol toxicity Orphanet:240845 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0027664 cisplatin toxicity Orphanet:240863 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0027666 codeine toxicity Orphanet:240867 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0027667 efavirenz toxicity Orphanet:240869 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0027668 flucloxacilline toxicity Orphanet:240871 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0027675 irinotecan toxicity Orphanet:240885 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0027677 isoniazid toxicity Orphanet:240887 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0027687 raltegravir toxicity Orphanet:240905 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0027696 voriconazole toxicity Orphanet:240921 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization Orphanet:250808 MONDO:equivalentTo Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching 0.5 +MONDO:0027751 obsolete serpinopathy with loss of serpin function Orphanet:250811 MONDO:equivalentTo Serpinopathy with loss of serpin function semapv:UnspecifiedMatching 0.5 +MONDO:0027929 obsolete genetic polycythemia Orphanet:250165 MONDO:equivalentTo Genetic polycythemia semapv:UnspecifiedMatching 0.5 +MONDO:0028569 obsolete genetic interstitial lung disease Orphanet:264992 MONDO:equivalentTo Genetic interstitial lung disease semapv:UnspecifiedMatching 0.5 +MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm Orphanet:481508 MONDO:equivalentTo Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching 0.5 +MONDO:0028737 obsolete biliary atresia disorder Orphanet:498345 MONDO:equivalentTo Biliary atresia and associated disorders semapv:UnspecifiedMatching 0.5 +MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease Orphanet:271870 MONDO:equivalentTo Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 +MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia Orphanet:276061 MONDO:equivalentTo Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 +MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood Orphanet:280342 MONDO:equivalentTo Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching 0.5 +MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs Orphanet:281244 MONDO:equivalentTo Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching 0.5 +MONDO:0029810 obsolete laminopathy with striated muscle involvement Orphanet:300755 MONDO:equivalentTo Laminopathy with striated muscle involvement semapv:UnspecifiedMatching 0.5 +MONDO:0029811 obsolete laminopathy with peripheral neuropathy Orphanet:300758 MONDO:equivalentTo Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching 0.5 +MONDO:0029812 obsolete laminopathy with lipodystrophy Orphanet:300763 MONDO:equivalentTo Laminopathy with lipodystrophy semapv:UnspecifiedMatching 0.5 +MONDO:0029813 obsolete laminopathy with premature aging Orphanet:300766 MONDO:equivalentTo Laminopathy with premature aging semapv:UnspecifiedMatching 0.5 +MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues Orphanet:322126 MONDO:equivalentTo Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 +MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest Orphanet:325665 MONDO:equivalentTo Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 +MONDO:0031016 obsolete genetic disorder of sex development Orphanet:325690 MONDO:equivalentTo Genetic difference of sex development semapv:UnspecifiedMatching 0.5 +MONDO:0031689 obsolete genetic progeroid syndrome Orphanet:363245 MONDO:equivalentTo Genetic progeroid syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0031697 obsolete genetic intractable diarrhea of infancy Orphanet:363300 MONDO:equivalentTo Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching 0.5 +MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption Orphanet:363306 MONDO:equivalentTo Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 +MONDO:0031949 obsolete genetic neurovascular malformation Orphanet:371436 MONDO:equivalentTo Genetic neurovascular malformation semapv:UnspecifiedMatching 0.5 +MONDO:0031952 obsolete genetic syndromic esophageal malformation Orphanet:371445 MONDO:equivalentTo Genetic syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0032011 obsolete biological anomaly Orphanet:377790 MONDO:equivalentTo Biological anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0032013 obsolete clinical syndrome Orphanet:377792 MONDO:equivalentTo Clinical syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0032014 obsolete particular clinical situation in a disease or syndrome Orphanet:377793 MONDO:equivalentTo Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism Orphanet:399846 MONDO:equivalentTo Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 +MONDO:0033056 obsolete genetic facial cleft Orphanet:414726 MONDO:equivalentTo Genetic facial cleft semapv:UnspecifiedMatching 0.5 +MONDO:0033169 curariform drugs toxicity Orphanet:413693 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0033170 statin toxicity Orphanet:413696 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0033181 phenytoin or carbamazepine toxicity Orphanet:414750 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0033329 obsolete genetic precocious puberty Orphanet:435554 MONDO:equivalentTo Genetic precocious puberty semapv:UnspecifiedMatching 0.5 +MONDO:0033331 obsolete genetic precocious puberty in female Orphanet:435564 MONDO:equivalentTo Genetic precocious puberty in female semapv:UnspecifiedMatching 0.5 +MONDO:0033334 obsolete genetic nose and cavum anomaly Orphanet:435606 MONDO:equivalentTo Genetic nose and cavum anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0033335 obsolete genetic larynx anomaly Orphanet:435609 MONDO:equivalentTo Genetic larynx anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0033336 obsolete genetic tracheal anomaly Orphanet:435612 MONDO:equivalentTo Genetic tracheal anomaly semapv:UnspecifiedMatching 0.5 +MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies Orphanet:459537 MONDO:equivalentTo Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 +MONDO:0034039 obsolete genetic hemoglobinopathy Orphanet:466066 MONDO:equivalentTo Genetic hemoglobinopathy semapv:UnspecifiedMatching 0.5 +MONDO:0034443 obsolete genetic non-acquired premature ovarian failure Orphanet:485382 MONDO:equivalentTo Genetic premature ovarian failure semapv:UnspecifiedMatching 0.5 +MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder Orphanet:496916 MONDO:equivalentTo Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 +MONDO:0034661 obsolete syndromic biliary atresia Orphanet:498350 MONDO:equivalentTo Syndromic biliary atresia semapv:UnspecifiedMatching 0.5 +MONDO:0034667 obsolete longitudinal limb defect Orphanet:498457 MONDO:equivalentTo Longitudinal limb defect semapv:UnspecifiedMatching 0.5 +MONDO:0034668 obsolete terminal transverse limb defect Orphanet:498461 MONDO:equivalentTo Terminal transverse limb defect semapv:UnspecifiedMatching 0.5 +MONDO:0034669 obsolete non-syndromic preaxial polydactyly Orphanet:498464 MONDO:equivalentTo Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching 0.5 +MONDO:0034670 obsolete non-syndromic postaxial polydactyly Orphanet:498467 MONDO:equivalentTo Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching 0.5 +MONDO:0034671 obsolete non-syndromic complex polydactyly Orphanet:498470 MONDO:equivalentTo Non-syndromic complex polydactyly semapv:UnspecifiedMatching 0.5 +MONDO:0034733 obsolete cochlear nerve deficiency Orphanet:502318 MONDO:equivalentTo Cochlear nerve deficiency semapv:UnspecifiedMatching 0.5 +MONDO:0034901 obsolete ATP13A2-related parkinsonism Orphanet:514980 MONDO:equivalentTo ATP13A2-related parkinsonism semapv:UnspecifiedMatching 0.5 +MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system Orphanet:519264 MONDO:equivalentTo Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching 0.5 +MONDO:0034926 obsolete rare disorder with entropion Orphanet:519270 MONDO:equivalentTo Rare disorder with entropion semapv:UnspecifiedMatching 0.5 +MONDO:0034931 obsolete rare conjunctivitis Orphanet:519280 MONDO:equivalentTo Rare conjunctivitis semapv:UnspecifiedMatching 0.5 +MONDO:0034937 obsolete syndromic ectopia lentis Orphanet:519292 MONDO:equivalentTo Syndromic ectopia lentis semapv:UnspecifiedMatching 0.5 +MONDO:0034943 obsolete isolated vitreoretinopathy Orphanet:519304 MONDO:equivalentTo Isolated vitreoretinopathy semapv:UnspecifiedMatching 0.5 +MONDO:0034953 obsolete syndromic inherited retinal disorder Orphanet:519325 MONDO:equivalentTo Syndromic inherited retinal disorder semapv:UnspecifiedMatching 0.5 +MONDO:0034954 obsolete syndromic vitreoretinopathy Orphanet:519327 MONDO:equivalentTo Syndromic vitreoretinopathy semapv:UnspecifiedMatching 0.5 +MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature Orphanet:519341 MONDO:equivalentTo Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching 0.5 +MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement Orphanet:519343 MONDO:equivalentTo Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching 0.5 +MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement Orphanet:519349 MONDO:equivalentTo Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching 0.5 +MONDO:0034968 obsolete rare ocular motility/alignment disorder Orphanet:519355 MONDO:equivalentTo Rare ocular motility/alignment disorder semapv:UnspecifiedMatching 0.5 +MONDO:0034977 obsolete isolated microspherophakia Orphanet:519396 MONDO:equivalentTo Isolated microspherophakia semapv:UnspecifiedMatching 0.5 +MONDO:0035001 obsolete rare disorder of the visual organs Orphanet:520814 MONDO:equivalentTo Rare disorder of the visual organs semapv:UnspecifiedMatching 0.5 +MONDO:0035002 obsolete isolated inherited retinal disorder Orphanet:520817 MONDO:equivalentTo Isolated inherited retinal disorder semapv:UnspecifiedMatching 0.5 +MONDO:0035013 obsolete genetic primary orthostatic disorder Orphanet:521232 MONDO:equivalentTo Genetic primary orthostatic disorder semapv:UnspecifiedMatching 0.5 +MONDO:0035014 obsolete primary orthostatic disorder Orphanet:521236 MONDO:equivalentTo Primary orthostatic disorder semapv:UnspecifiedMatching 0.5 +MONDO:0035037 obsolete rare genetic disorder of the visual organs Orphanet:522504 MONDO:equivalentTo Rare genetic disorder of the visual organs semapv:UnspecifiedMatching 0.5 +MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin Orphanet:522580 MONDO:equivalentTo Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching 0.5 +MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome Orphanet:530313 MONDO:equivalentTo PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0035274 obsolete anomaly of the coronary ostia Orphanet:542822 MONDO:equivalentTo Anomaly of the coronary ostia semapv:UnspecifiedMatching 0.5 +MONDO:0035328 obsolete rare disorder due to poisoning Orphanet:556508 MONDO:equivalentTo Rare disorder due to poisoning semapv:UnspecifiedMatching 0.5 +MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation Orphanet:565779 MONDO:equivalentTo Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching 0.5 +MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement Orphanet:568041 MONDO:equivalentTo Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching 0.5 +MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement Orphanet:568044 MONDO:equivalentTo Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching 0.5 +MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema Orphanet:568047 MONDO:equivalentTo Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching 0.5 +MONDO:0035561 obsolete sporadic human prion disease Orphanet:576356 MONDO:equivalentTo Sporadic human prion disease semapv:UnspecifiedMatching 0.5 +MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome Orphanet:589746 MONDO:equivalentTo Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome Orphanet:595216 MONDO:equivalentTo Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement Orphanet:595346 MONDO:equivalentTo Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching 0.5 +MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement Orphanet:595351 MONDO:equivalentTo Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching 0.5 +MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone Orphanet:596426 MONDO:equivalentTo Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching 0.5 +MONDO:0035786 obsolete non-syndromic cloacal malformation Orphanet:600998 MONDO:equivalentTo Non-syndromic cloacal malformation semapv:UnspecifiedMatching 0.5 +MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome Orphanet:611314 MONDO:equivalentTo Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability Orphanet:611327 MONDO:equivalentTo Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching 0.5 +MONDO:0035875 ivermectin toxicity Orphanet:574637 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0035876 belinostat toxicity or dose selection Orphanet:574671 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0036025 toxicity to dolutegravir Orphanet:596744 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0037716 obsolete rare genetic deafness Orphanet:96210 MONDO:equivalentTo Rare genetic deafness semapv:UnspecifiedMatching 0.5 +MONDO:0037860 obsolete rare systemic or rheumatologic disease Orphanet:98023 MONDO:equivalentTo Rare systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 +MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system Orphanet:98743 MONDO:equivalentTo Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching 0.5 +MONDO:0038268 obsolete autoimmune neurological channelopathy Orphanet:98750 MONDO:equivalentTo Autoimmune neurological channelopathy semapv:UnspecifiedMatching 0.5 +MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome Orphanet:183533 MONDO:equivalentTo Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 +MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability Orphanet:330206 MONDO:equivalentTo Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching 0.5 +MONDO:0044636 obsolete rare hyperkinetic movement disorder Orphanet:494457 MONDO:equivalentTo Rare hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 +MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect Orphanet:497623 MONDO:equivalentTo C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching 0.5 +MONDO:0800084 obsolete primary bone dysplasia with increased bone density Orphanet:93444 MONDO:equivalentTo Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching 0.5 +MONDO:0800087 obsolete type 11 collagen-related bone disorder Orphanet:93422 MONDO:equivalentTo Type 11 collagen-related bone disorder semapv:UnspecifiedMatching 0.5 +MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components Orphanet:93450 MONDO:equivalentTo Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching 0.5 +MONDO:0800090 obsolete ectrodactyly with and without other manifestations Orphanet:498477 MONDO:equivalentTo Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching 0.5 +MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement Orphanet:498448 MONDO:equivalentTo Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching 0.5 +MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy Orphanet:498445 MONDO:equivalentTo Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching 0.5 +MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations Orphanet:498451 MONDO:equivalentTo Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching 0.5 +MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations Orphanet:498454 MONDO:equivalentTo Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching 0.5 +MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect Orphanet:93459 MONDO:equivalentTo Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching 0.5 +MONDO:0957001 obsolete hereditary mixed dermis disorder Orphanet:183481 MONDO:equivalentTo Genetic mixed dermis disorder semapv:UnspecifiedMatching 0.5 +MONDO:0957009 obsolete hereditary posterior fossa malformation Orphanet:269557 MONDO:equivalentTo Genetic posterior fossa malformation semapv:UnspecifiedMatching 0.5 +MONDO:0957024 obsolete hereditary 46,XX disorder of sex development Orphanet:325697 MONDO:equivalentTo Genetic 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 +MONDO:0957025 obsolete hereditary 46,XY disorder of sex development Orphanet:325706 MONDO:equivalentTo Genetic 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 +MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood Orphanet:324942 MONDO:equivalentTo Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching 0.5 +MONDO:8000030 obsolete morphological anomaly Orphanet:377791 MONDO:equivalentTo Morphological anomaly semapv:UnspecifiedMatching 0.5 +MONDO:8000031 obsolete subtype of a disorder Orphanet:557494 MONDO:equivalentTo subtype of a disorder semapv:UnspecifiedMatching 0.5 +MONDO:8000033 obsolete group of disorders Orphanet:557492 MONDO:equivalentTo group of disorders semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10cm.tsv index 420ac95b..c28794d2 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10cm.tsv @@ -62,8 +62,8 @@ MONDO:0021005 faciodigitogenital syndrome skos:broadMatch ICD10CM:Q87.19 Other c MONDO:0021113 respiratory failure skos:broadMatch ICD10CM:J96.0 Acute respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label acute respiratory failure LEXMATCH MONDO:0021113 respiratory failure skos:broadMatch ICD10CM:J96.1 Chronic respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label chronic respiratory failure LEXMATCH MONDO:0021129 microphthalmia skos:broadMatch ICD10CM:Q11.2 Microphthalmos semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label microphthalmos LEXMATCH -MONDO:0035173 9q21.13 microdeletion syndrome skos:broadMatch ICD10CM:F78.1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:broadMatch ICD10CM:C92.7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035173 9q21.13 microdeletion syndrome skos:broadMatch ICD10CM:F78.1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:broadMatch ICD10CM:C92.7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0042981 aortic valve stenosis skos:broadMatch ICD10CM:I06.0 Rheumatic aortic stenosis semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label rheumatic aortic stenosis LEXMATCH MONDO:0100125 hallucinogen-persisting perception disorder skos:broadMatch ICD10CM:F16.183 Hallucinogen abuse with hallucinogen persisting perception disorder (flashbacks) semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym hallucinogen abuse with hallucinogen persisting perception disorder LEXMATCH MONDO:0100443 RDH5-related retinopathy skos:broadMatch ICD10CM:H35.52 Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label pigmentary retinal dystrophy LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv index 80b1193c..cf561864 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv @@ -2348,8 +2348,6 @@ MONDO:0006786 hepatic vein thrombosis skos:closeMatch ICD10CM:I82.0 Budd-Chiari MONDO:0006786 hepatic vein thrombosis skos:closeMatch ICD10CM:I82.0 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label budd-chiari syndrome LEXMATCH MONDO:0006786 hepatic vein thrombosis skos:closeMatch ICD10CM:I82.0 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006786 LEXMATCH MONDO:0006786 hepatic vein thrombosis skos:closeMatch ICD10CM:I82.0 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11512 LEXMATCH -MONDO:0006788 hydrophthalmos skos:closeMatch ICD10CM:Q15.0 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11212 LEXMATCH -MONDO:0006788 hydrophthalmos skos:closeMatch ICD10CM:Q15.0 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11212 LEXMATCH MONDO:0006794 hypersensitivity vasculitis skos:closeMatch ICD10CM:M31.0 Hypersensitivity angiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:9809 LEXMATCH MONDO:0006794 hypersensitivity vasculitis skos:closeMatch ICD10CM:M31.0 Hypersensitivity angiitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:9809 LEXMATCH MONDO:0006797 hypertensive retinopathy skos:closeMatch ICD10CM:H35.03 Hypertensive retinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11561 LEXMATCH @@ -5747,6 +5745,8 @@ MONDO:0020338 adult pure red cell aplasia skos:closeMatch ICD10CM:D60 Acquired p MONDO:0020352 multiple system atrophy, parkinsonian type skos:closeMatch ICD10CM:G23.2 Striatonigral degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020352 LEXMATCH MONDO:0020364 posterior polymorphous corneal dystrophy skos:closeMatch ICD10CM:H18.5 Hereditary corneal dystrophies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060457 LEXMATCH MONDO:0020364 posterior polymorphous corneal dystrophy skos:closeMatch ICD10CM:H18.5 Hereditary corneal dystrophies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060457 LEXMATCH +MONDO:0020366 congenital glaucoma skos:closeMatch ICD10CM:Q15.0 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11212 LEXMATCH +MONDO:0020366 congenital glaucoma skos:closeMatch ICD10CM:Q15.0 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11212 LEXMATCH MONDO:0020381 patterned macular dystrophy skos:closeMatch ICD10CM:H35.5 Hereditary retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060863 LEXMATCH MONDO:0020381 patterned macular dystrophy skos:closeMatch ICD10CM:H35.5 Hereditary retinal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020381 LEXMATCH MONDO:0020381 patterned macular dystrophy skos:closeMatch ICD10CM:H35.5 Hereditary retinal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060863 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv deleted file mode 100644 index f7c700a4..00000000 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv +++ /dev/null @@ -1,53 +0,0 @@ -subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0050638 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:0050638 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary amyloidosis, transthyretin-related LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch mondo:0007100 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007100 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0050638 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID omim:105210 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:0050638 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE rdf:ID omim:105210 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:5812 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:572 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:5812 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:824 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome, type 2 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome, type ii, complementation group a LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bls, type 2 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, hla class ii-negative LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, hla class ii-negative LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch mondo:0008855 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008855 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:5812 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:572 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID omim:209920 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:5812 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 mhc class 2 deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE rdf:ID omim:209920 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:620815 mhc class 2 deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome, type ii, complementation group b LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:620816 mhc class 2 deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome, type ii, complementation group c LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:620817 mhc class 2 deficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome, type ii, complementation group d LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:620818 mhc class 2 deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome, type ii, complementation group e LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060009 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:34592 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:0060009 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:8427 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome, type 1 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bls, type 1 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch mondo:0011476 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011476 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060009 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:34592 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID omim:604571 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:0060009 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 mhc class 1 deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE rdf:ID omim:604571 LEXMATCH -MONDO:0019441 ATTRV122I amyloidosis skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:85451 LEXMATCH -MONDO:0019441 ATTRV122I amyloidosis skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:16755 LEXMATCH -MONDO:0019441 ATTRV122I amyloidosis skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:85451 LEXMATCH -MONDO:0100552 ATTRV30M amyloidosis skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE orphanet:85447 LEXMATCH -MONDO:0100552 ATTRV30M amyloidosis skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch-INVERSE gard:16754 LEXMATCH -MONDO:0100552 ATTRV30M amyloidosis skos:closeMatch OMIM:105210 amyloidosis, hereditary systemic 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE orphanet:85447 LEXMATCH -MONDO:0859193 neuroocular syndrome skos:closeMatch OMIM:619539 neuroocular syndrome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch mondo:0859193 LEXMATCH -MONDO:0859193 neuroocular syndrome skos:closeMatch OMIM:619539 neuroocular syndrome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859193 LEXMATCH -MONDO:0859193 neuroocular syndrome skos:closeMatch OMIM:619539 neuroocular syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID omim:619539 LEXMATCH -MONDO:0859193 neuroocular syndrome skos:closeMatch OMIM:619539 neuroocular syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE rdf:ID omim:619539 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv deleted file mode 100644 index e987a6fc..00000000 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv +++ /dev/null @@ -1,4 +0,0 @@ -subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0008302 central precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176400 LEXMATCH -MONDO:0008302 central precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176400 LEXMATCH -MONDO:0008302 central precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:176400 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv index 10cbf414..4d42d0d1 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -1,30 +1,30 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0000275 obsolete monogenic disease skos:exactMatch DOID:0050177 monogenic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000601 obsolete autoimmune disorder of urogenital tract skos:exactMatch DOID:0060049 autoimmune disease of urogenital tract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000651 obsolete thoracic disorder skos:exactMatch DOID:0060118 thoracic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000742 obsolete persistent generalized lymphadenopathy skos:exactMatch DOID:0060314 persistent generalized lymphadenopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000834 obsolete bone deterioration disease skos:exactMatch DOID:0080007 bone deterioration disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000839 obsolete congenital abnormality skos:exactMatch DOID:0080015 physical disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 skos:exactMatch DOID:0080069 Charcot-Marie-Tooth disease type 7 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0001254 obsolete peripheral scars of retina skos:exactMatch DOID:11283 peripheral scars of retina semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0001324 obsolete hyperandrogenism skos:exactMatch DOID:11613 hyperandrogenism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0001467 obsolete specific bursitis often of occupational origin skos:exactMatch DOID:12223 specific bursitis often of occupational origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0001679 obsolete crater-like holes of optic disk skos:exactMatch DOID:13295 crater-like holes of optic disc semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0001693 obsolete ego-dystonic sexual orientation skos:exactMatch DOID:13352 ego-dystonic sexual orientation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002324 obsolete enamel erosion skos:exactMatch DOID:2497 enamel erosion semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002336 obsolete inflammatory and toxic neuropathy skos:exactMatch DOID:2537 inflammatory and toxic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor skos:exactMatch DOID:4148 gastrointestinal neuroendocrine benign tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch DOID:4548 extraskeletal mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0003456 obsolete bile duct mucinous cystic neoplasm skos:exactMatch DOID:5469 biliary tract intraductal papillary mucinous neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0003804 obsolete blood protein disease skos:exactMatch DOID:620 blood protein disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004167 obsolete lung clear cell carcinoma skos:exactMatch DOID:7267 lung clear cell carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004268 obsolete subareolar duct papillomatosis skos:exactMatch DOID:7533 subareolar duct papillomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004391 obsolete adult extraosseous chondrosarcoma skos:exactMatch DOID:7902 adult extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004398 mediastinal schwannoma skos:exactMatch DOID:7922 obsolete benign mediastinal neurilemmoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005128 obsolete sensory system disease skos:exactMatch DOID:0050155 sensory system disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0000275 obsolete monogenic disease skos:exactMatch DOID:0050177 monogenic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0000601 obsolete autoimmune disorder of urogenital tract skos:exactMatch DOID:0060049 autoimmune disease of urogenital tract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0000651 obsolete thoracic disorder skos:exactMatch DOID:0060118 thoracic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0000742 obsolete persistent generalized lymphadenopathy skos:exactMatch DOID:0060314 persistent generalized lymphadenopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0000834 obsolete bone deterioration disease skos:exactMatch DOID:0080007 bone deterioration disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0000839 obsolete congenital abnormality skos:exactMatch DOID:0080015 physical disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 skos:exactMatch DOID:0080069 Charcot-Marie-Tooth disease type 7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0001254 obsolete peripheral scars of retina skos:exactMatch DOID:11283 peripheral scars of retina semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0001324 obsolete hyperandrogenism skos:exactMatch DOID:11613 hyperandrogenism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0001467 obsolete specific bursitis often of occupational origin skos:exactMatch DOID:12223 specific bursitis often of occupational origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0001679 obsolete crater-like holes of optic disk skos:exactMatch DOID:13295 crater-like holes of optic disc semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0001693 obsolete ego-dystonic sexual orientation skos:exactMatch DOID:13352 ego-dystonic sexual orientation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0002324 obsolete enamel erosion skos:exactMatch DOID:2497 enamel erosion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0002336 obsolete inflammatory and toxic neuropathy skos:exactMatch DOID:2537 inflammatory and toxic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor skos:exactMatch DOID:4148 gastrointestinal neuroendocrine benign tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch DOID:4548 extraskeletal mesenchymal chondrosarcoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0003456 obsolete bile duct mucinous cystic neoplasm skos:exactMatch DOID:5469 biliary tract intraductal papillary mucinous neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0003804 obsolete blood protein disease skos:exactMatch DOID:620 blood protein disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0004167 obsolete lung clear cell carcinoma skos:exactMatch DOID:7267 lung clear cell carcinoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0004268 obsolete subareolar duct papillomatosis skos:exactMatch DOID:7533 subareolar duct papillomatosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0004391 obsolete adult extraosseous chondrosarcoma skos:exactMatch DOID:7902 adult extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0004398 mediastinal schwannoma skos:exactMatch DOID:7922 obsolete benign mediastinal neurilemmoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0005128 obsolete sensory system disease skos:exactMatch DOID:0050155 sensory system disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0005641 aleutian mink disease skos:exactMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disease LEXMATCH MONDO:0005676 borna disease skos:exactMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disease LEXMATCH -MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0006879 optic papillitis skos:exactMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema LEXMATCH MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch DOID:0111368 cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency LEXMATCH MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c538324 LEXMATCH @@ -34,19 +34,19 @@ MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch DOID:0060959 orof MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy LEXMATCH MONDO:0010225 Dent disease type 1 skos:exactMatch DOID:0081453 Dent disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:300009 LEXMATCH MONDO:0010359 Dent disease type 2 skos:exactMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:300555 LEXMATCH -MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610015 LEXMATCH MONDO:0014413 orofaciodigital syndrome type 14 skos:exactMatch DOID:0060958 orofaciodigital syndrome XIV semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615948 LEXMATCH MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:exactMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616277 LEXMATCH MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616281 LEXMATCH MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:exactMatch DOID:0060948 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616470 LEXMATCH MONDO:0014936 ZTTK syndrome skos:exactMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617140 LEXMATCH -MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch DOID:0050594 glycogen storage disease IX semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch DOID:0050594 glycogen storage disease IX semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020796 Silver-Russell syndrome 1 skos:exactMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:180860 LEXMATCH -MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0026763 holoprosencephaly 13, X-linked skos:exactMatch DOID:0060954 Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301043 LEXMATCH MONDO:0030064 episodic ataxia, type 9 skos:exactMatch DOID:0060965 episodic ataxia type 9 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618924 LEXMATCH MONDO:0030105 galactosemia 4 skos:exactMatch DOID:0060969 galactosemia 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618881 LEXMATCH @@ -59,9 +59,9 @@ MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophal MONDO:0054770 orofaciodigital syndrome 18 skos:exactMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617927 LEXMATCH MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:exactMatch DOID:0060951 polycystic kidney disease 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618061 LEXMATCH MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618850 LEXMATCH -MONDO:0100140 obsolete mild COVID-19 infection skos:exactMatch DOID:0081014 non-severe COVID-19 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100142 obsolete severe COVID-19 infection skos:exactMatch DOID:0081013 severe COVID-19 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100143 obsolete critical COVID-19 infection skos:exactMatch DOID:0081012 critical COVID-19 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0100140 obsolete mild COVID-19 infection skos:exactMatch DOID:0081014 non-severe COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0100142 obsolete severe COVID-19 infection skos:exactMatch DOID:0081013 severe COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0100143 obsolete critical COVID-19 infection skos:exactMatch DOID:0081012 critical COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:243150 LEXMATCH MONDO:0859310 orofaciodigital syndrome 19 skos:exactMatch DOID:0060960 orofaciodigital syndrome XIX semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620107 LEXMATCH MONDO:0859341 hypotrichosis 15 skos:exactMatch DOID:0060968 hypotrichosis 15 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620177 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv index 41f22bca..1ae1a65c 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv @@ -835,7 +835,6 @@ MONDO:0006748 epilepsia partialis continua skos:exactMatch ICD10CM:G40.1 Localiz MONDO:0006783 hemopneumothorax skos:exactMatch ICD10CM:J94.2 Hemothorax semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemopneumothorax LEXMATCH MONDO:0006786 hepatic vein thrombosis skos:exactMatch ICD10CM:I82.0 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatic vein thrombosis LEXMATCH MONDO:0006786 hepatic vein thrombosis skos:exactMatch ICD10CM:I82.0 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatic vein thrombosis LEXMATCH -MONDO:0006788 hydrophthalmos skos:exactMatch ICD10CM:Q15.0 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydrophthalmos LEXMATCH MONDO:0006797 hypertensive retinopathy skos:exactMatch ICD10CM:H35.03 Hypertensive retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive retinopathy LEXMATCH MONDO:0006802 inappropriate ADH syndrome skos:exactMatch ICD10CM:E22.2 Syndrome of inappropriate secretion of antidiuretic hormone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndrome of inappropriate secretion of antidiuretic hormone LEXMATCH MONDO:0006807 intestinal perforation skos:exactMatch ICD10CM:K63.1 Perforation of intestine (nontraumatic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perforation of intestine LEXMATCH @@ -1401,7 +1400,7 @@ MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.3 Reiter's disease MONDO:0017410 porencephaly skos:exactMatch ICD10CM:Q04.6 Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly LEXMATCH MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch ICD10CM:G14 Postpolio syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postpolio syndrome LEXMATCH MONDO:0017450 split foot skos:exactMatch ICD10CM:Q72.7 Split foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label split foot LEXMATCH -MONDO:0017495 obsolete congenital absence of upper arm and forearm with hand present, bilateral skos:exactMatch ICD10CM:Q71.13 Congenital absence of upper arm and forearm with hand present, bilateral semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017495 obsolete congenital absence of upper arm and forearm with hand present, bilateral skos:exactMatch ICD10CM:Q71.13 Congenital absence of upper arm and forearm with hand present, bilateral semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0017560 congenital genu recurvatum skos:exactMatch ICD10CM:Q68.2 Congenital deformity of knee semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital genu recurvatum LEXMATCH MONDO:0017572 tick-borne encephalitis skos:exactMatch ICD10CM:A84 Tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tick-borne viral encephalitis LEXMATCH MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:exactMatch ICD10CM:C86.6 Primary cutaneous CD30-positive T-cell proliferations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary cutaneous anaplastic large cell lymphoma LEXMATCH @@ -1803,7 +1802,7 @@ MONDO:0024182 dry beriberi skos:exactMatch ICD10CM:E51.11 Dry beriberi semapv:Le MONDO:0024183 wet beriberi skos:exactMatch ICD10CM:E51.12 Wet beriberi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wet beriberi LEXMATCH MONDO:0024228 miliaria profunda skos:exactMatch ICD10CM:L74.2 Miliaria profunda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria profunda LEXMATCH MONDO:0024229 miliaria crystallina skos:exactMatch ICD10CM:L74.1 Miliaria crystallina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria crystallina LEXMATCH -MONDO:0024297 obsolete nutritional or metabolic disease skos:exactMatch ICD10CM:E00-E90 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024297 obsolete nutritional or metabolic disease skos:exactMatch ICD10CM:E00-E90 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0024327 chronic renal failure syndrome skos:exactMatch ICD10CM:N18.9 Chronic kidney disease, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic renal disease LEXMATCH MONDO:0024332 perennial allergic rhinitis skos:exactMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perennial allergic rhinitis LEXMATCH MONDO:0024332 perennial allergic rhinitis skos:exactMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym perennial allergic rhinitis LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv index fa9f055c..05156566 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv @@ -240,7 +240,7 @@ MONDO:0001935 neurogenic arthropathy skos:exactMatch ICD10WHO:M14.6 Neuropathic MONDO:0001942 generalized anxiety disorder skos:exactMatch ICD10WHO:F41.1 Generalized anxiety disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized anxiety disorder LEXMATCH MONDO:0001943 Plasmodium malariae malaria skos:exactMatch ICD10WHO:B52 Plasmodium malariae malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium malariae malaria LEXMATCH MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch ICD10WHO:G21.3 Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postencephalitic parkinsonism LEXMATCH -MONDO:0001946 obsolete hyperestrogenism skos:exactMatch ICD10WHO:E28.0 Ovarian dysfunction: Estrogen excess semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0001946 obsolete hyperestrogenism skos:exactMatch ICD10WHO:E28.0 Ovarian dysfunction: Estrogen excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0001949 acute thyroiditis skos:exactMatch ICD10WHO:E06.0 Acute thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute thyroiditis LEXMATCH MONDO:0001954 thrombophlebitis migrans skos:exactMatch ICD10WHO:I82.1 Thrombophlebitis migrans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombophlebitis migrans LEXMATCH MONDO:0001964 chronic tubotympanic suppurative otitis media skos:exactMatch ICD10WHO:H66.1 Chronic tubotympanic suppurative otitis media semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic tubotympanic suppurative otitis media LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv index ae81a2b5..36ad861c 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv @@ -3055,7 +3055,6 @@ MONDO:0006779 heart aneurysm skos:exactMatch icd11.foundation:1571863865 Aneurys MONDO:0006779 heart aneurysm skos:exactMatch icd11.foundation:1571863865 Aneurysm of heart semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heart aneurysm LEXMATCH MONDO:0006786 hepatic vein thrombosis skos:exactMatch icd11.foundation:2131410813 Hepatic vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic vein thrombosis LEXMATCH MONDO:0006787 hidrocystoma skos:exactMatch icd11.foundation:2040265542 Hidrocystoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidrocystoma LEXMATCH -MONDO:0006788 hydrophthalmos skos:exactMatch icd11.foundation:2064760868 Developmental glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydrophthalmos LEXMATCH MONDO:0006790 hypercementosis skos:exactMatch icd11.foundation:509666116 Cementum hyperplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cementation hyperplasia LEXMATCH MONDO:0006790 hypercementosis skos:exactMatch icd11.foundation:509666116 Cementum hyperplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypercementosis LEXMATCH MONDO:0006793 hyperpituitarism skos:exactMatch icd11.foundation:1950330641 Hyperfunction of pituitary gland semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperpituitarism LEXMATCH @@ -7874,6 +7873,7 @@ MONDO:0020364 posterior polymorphous corneal dystrophy skos:exactMatch icd11.fou MONDO:0020365 congenital hereditary endothelial dystrophy type I skos:exactMatch icd11.foundation:1580987262 Congenital hereditary endothelial dystrophy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital hereditary endothelial dystrophy type 1 LEXMATCH MONDO:0020366 congenital glaucoma skos:exactMatch icd11.foundation:1106186590 Buphthalmos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmia LEXMATCH MONDO:0020366 congenital glaucoma skos:exactMatch icd11.foundation:1106186590 Buphthalmos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label buphthalmos LEXMATCH +MONDO:0020366 congenital glaucoma skos:exactMatch icd11.foundation:2064760868 Developmental glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydrophthalmos LEXMATCH MONDO:0020367 juvenile open angle glaucoma skos:exactMatch icd11.foundation:2064760868 Developmental glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile glaucoma LEXMATCH MONDO:0020368 Axenfeld anomaly skos:exactMatch icd11.foundation:1703498511 Axenfeld anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axenfeld anomaly LEXMATCH MONDO:0020369 Chandler syndrome skos:exactMatch icd11.foundation:677984188 Endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystrophy of corneal endothelium LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv index ffe960ab..8b4478b9 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv @@ -1,10 +1,10 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0000376 respiratory system cancer skos:exactMatch NCIT:C4571 Malignant Respiratory System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant respiratory system neoplasm LEXMATCH -MONDO:0000651 obsolete thoracic disorder skos:exactMatch NCIT:C35742 Thoracic Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0000651 obsolete thoracic disorder skos:exactMatch NCIT:C35742 Thoracic Disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0000930 nodular malignant melanoma skos:exactMatch NCIT:C205125 Nodular Melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nodular melanoma LEXMATCH MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C175319 Malignant Lacrimal Drainage System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant lacrimal drainage system neoplasm LEXMATCH MONDO:0002038 head and neck carcinoma skos:exactMatch NCIT:C6077 Neck Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neck carcinoma LEXMATCH -MONDO:0002063 obsolete breast papillomatosis skos:exactMatch NCIT:C6977 Breast Papillomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0002063 obsolete breast papillomatosis skos:exactMatch NCIT:C6977 Breast Papillomatosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C4659 Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pineal region germ cell tumor LEXMATCH MONDO:0002095 vascular cancer skos:exactMatch NCIT:C7390 Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular neoplasm LEXMATCH MONDO:0002171 giant cell tumor skos:exactMatch NCIT:C7069 Giant Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label giant cell neoplasm LEXMATCH @@ -13,51 +13,51 @@ MONDO:0002691 liver cancer skos:exactMatch NCIT:C190593 Malignant Liver Neoplasm MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C40226 Cervical Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical mixed epithelial and mesenchymal neoplasm LEXMATCH MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C3730 Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed mesodermal (mullerian) tumor LEXMATCH MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C8975 Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant mixed mesodermal (mullerian) tumor LEXMATCH -MONDO:0002938 metatypical basal cell carcinoma skos:exactMatch NCIT:C66903 Skin Metatypical Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch NCIT:C27481 Mesenchymal Extraskeletal Chondrosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0002938 metatypical basal cell carcinoma skos:exactMatch NCIT:C66903 Skin Metatypical Carcinoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch NCIT:C27481 Mesenchymal Extraskeletal Chondrosarcoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch NCIT:C4661 Central Nervous System Melanocytic Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system melanocytic neoplasm LEXMATCH -MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch NCIT:C5504 Central Nervous System Melanocytic Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0003450 eccrine papillary adenoma skos:exactMatch NCIT:C4173 Papillary Eccrine Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch NCIT:C5504 Central Nervous System Melanocytic Neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0003450 eccrine papillary adenoma skos:exactMatch NCIT:C4173 Papillary Eccrine Adenoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubular apocrine adenoma LEXMATCH MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch NCIT:C5821 Esophageal Neuroendocrine Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal neuroendocrine neoplasm LEXMATCH MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch NCIT:C191672 Papillary Urothelial Neoplasm of Low Malignant Potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papillary urothelial neoplasm of low malignant potential LEXMATCH -MONDO:0003998 obsolete vaginal tubular adenoma skos:exactMatch NCIT:C40257 Vaginal Tubular Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0003998 obsolete vaginal tubular adenoma skos:exactMatch NCIT:C40257 Vaginal Tubular Adenoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0004075 infiltrating lipoma skos:exactMatch NCIT:C7450 Intramuscular Lipoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intramuscular lipoma LEXMATCH -MONDO:0004141 melanomatosis skos:exactMatch NCIT:C9499 Melanomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0004141 melanomatosis skos:exactMatch NCIT:C9499 Melanomatosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0004180 benign urinary system neoplasm skos:exactMatch NCIT:C192667 Benign Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign urinary tract neoplasm LEXMATCH -MONDO:0004204 squamous cell skin papilloma skos:exactMatch NCIT:C4462 Skin Squamous Papilloma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C39822 Infiltrating Bladder Urothelial Carcinoma, Lymphoma-Like Variant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0004204 squamous cell skin papilloma skos:exactMatch NCIT:C4462 Skin Squamous Papilloma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C39822 Infiltrating Bladder Urothelial Carcinoma, Lymphoma-Like Variant semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0004520 intratubular embryonal carcinoma skos:exactMatch NCIT:C192096 Intratubular Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intratubular embryonal carcinoma LEXMATCH MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40179 Uterine Corpus Soft Tissue Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uterine corpus soft tissue neoplasm LEXMATCH MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant submandibular gland neoplasm LEXMATCH -MONDO:0004819 indolent plasma cell myeloma skos:exactMatch NCIT:C7150 Indolent Multiple Myeloma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0004819 indolent plasma cell myeloma skos:exactMatch NCIT:C7150 Indolent Multiple Myeloma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0004957 mucinous adenocarcinoma skos:exactMatch NCIT:C27379 Mucin-Producing Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucin-producing adenocarcinoma LEXMATCH MONDO:0005004 clear cell adenocarcinoma skos:exactMatch NCIT:C4156 Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label water-clear cell adenocarcinoma LEXMATCH -MONDO:0005065 mesothelioma skos:exactMatch NCIT:C3234 Mesothelioma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005104 aJCC grade 1 sarcoma skos:exactMatch NCIT:C9419 AJCC Grade 1 Sarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005362 erectile dysfunction skos:exactMatch NCIT:C34801 Male Erectile Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0005065 mesothelioma skos:exactMatch NCIT:C3234 Mesothelioma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0005104 aJCC grade 1 sarcoma skos:exactMatch NCIT:C9419 AJCC Grade 1 Sarcoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0005362 erectile dysfunction skos:exactMatch NCIT:C34801 Male Erectile Disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0005369 carcinoid tumor skos:exactMatch NCIT:C203250 Neuroendocrine Tumor G1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumor g1 LEXMATCH -MONDO:0005369 carcinoid tumor skos:exactMatch NCIT:C2915 Carcinoid Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0005369 carcinoid tumor skos:exactMatch NCIT:C2915 Carcinoid Tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0006295 malignant urinary system neoplasm skos:exactMatch NCIT:C192668 Malignant Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant urinary tract neoplasm LEXMATCH -MONDO:0006315 obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm skos:exactMatch NCIT:C37005 Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0006315 obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm skos:exactMatch NCIT:C37005 Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0006329 olfactory neuroblastoma skos:exactMatch NCIT:C6016 Paranasal Sinus Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paranasal sinus olfactory neuroblastoma LEXMATCH MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C3765 Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multicystic mesothelioma LEXMATCH MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7612 Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant thymoma LEXMATCH -MONDO:0006475 obsolete unclassified renal cell carcinoma skos:exactMatch NCIT:C27892 Unclassified Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0006475 obsolete unclassified renal cell carcinoma skos:exactMatch NCIT:C27892 Unclassified Renal Cell Carcinoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C8402 Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm LEXMATCH MONDO:0006738 eccrine acrospiroma skos:exactMatch NCIT:C205462 Eccrine Poroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eccrine poroma LEXMATCH MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch NCIT:C45630 Diffuse Pulmonary Lymphangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse pulmonary lymphangiomatosis LEXMATCH -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NCIT:C3963 Purine-Nucleoside Phosphorylase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:exactMatch NCIT:C7167 Myelodysplastic Syndrome with Excess Blasts-1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NCIT:C3963 Purine-Nucleoside Phosphorylase Deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:exactMatch NCIT:C7167 Myelodysplastic Syndrome with Excess Blasts-1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0015301 primary cutaneous amyloidosis skos:exactMatch NCIT:C199391 Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis LEXMATCH MONDO:0015391 nasopharyngeal teratoma skos:exactMatch NCIT:C202982 Nasopharyngeal Teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal teratoma LEXMATCH -MONDO:0015540 hemophagocytic syndrome skos:exactMatch NCIT:C35439 Hemophagocytic Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015540 hemophagocytic syndrome skos:exactMatch NCIT:C35439 Hemophagocytic Syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0015686 primary peritoneal carcinoma skos:exactMatch NCIT:C4182 Serous Surface Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous surface papillary carcinoma LEXMATCH MONDO:0016715 ependymoblastoma skos:exactMatch NCIT:C186534 Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes LEXMATCH -MONDO:0016747 primary melanoma of the central nervous system skos:exactMatch NCIT:C5505 Central Nervous System Melanoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016747 primary melanoma of the central nervous system skos:exactMatch NCIT:C5505 Central Nervous System Melanoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile hemangiopericytoma LEXMATCH MONDO:0017289 fetal lung interstitial tumor skos:exactMatch NCIT:C190105 Fetal Lung Interstitial Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lung interstitial tumor LEXMATCH -MONDO:0017308 obsolete Marfan syndrome type 2 skos:exactMatch NCIT:C75007 Marfan Syndrome Type II semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017308 obsolete Marfan syndrome type 2 skos:exactMatch NCIT:C75007 Marfan Syndrome Type II semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0017884 papillary renal cell carcinoma skos:exactMatch NCIT:C27890 Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sporadic papillary renal cell carcinoma LEXMATCH MONDO:0018017 goblet cell carcinoma skos:exactMatch NCIT:C201135 Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label goblet cell adenocarcinoma LEXMATCH MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C39995 Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant ovarian teratoma LEXMATCH @@ -69,20 +69,20 @@ MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch NCIT:C15049 MONDO:0019496 neuroendocrine neoplasm skos:exactMatch NCIT:C188218 Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumor LEXMATCH MONDO:0019500 extragonadal teratoma skos:exactMatch NCIT:C189045 Extragonadal Teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal teratoma LEXMATCH MONDO:0019964 thymic neuroendocrine tumor skos:exactMatch NCIT:C6430 Thymic Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine tumor LEXMATCH -MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly skos:exactMatch NCIT:C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly skos:exactMatch NCIT:C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020541 maligant granulosa cell tumor of ovary skos:exactMatch NCIT:C7288 Adult Ovarian Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult ovarian granulosa cell tumor LEXMATCH -MONDO:0020591 obsolete disorder of peritoneum skos:exactMatch NCIT:C26848 Peritoneal Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020595 obsolete disorder of retroperitoneum skos:exactMatch NCIT:C27667 Retroperitoneal Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020804 basal cell carcinoma skos:exactMatch NCIT:C7586 Malignant Basal Cell Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020805 benign basal cell neoplasm skos:exactMatch NCIT:C4743 Benign Basal Cell Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020842 obsolete medullary carcinoma skos:exactMatch NCIT:C8998 Medullary Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021059 obsolete head or neck disorder/disorder skos:exactMatch NCIT:C27571 Head and Neck Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020591 obsolete disorder of peritoneum skos:exactMatch NCIT:C26848 Peritoneal Disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020595 obsolete disorder of retroperitoneum skos:exactMatch NCIT:C27667 Retroperitoneal Disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020804 basal cell carcinoma skos:exactMatch NCIT:C7586 Malignant Basal Cell Neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020805 benign basal cell neoplasm skos:exactMatch NCIT:C4743 Benign Basal Cell Neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020842 obsolete medullary carcinoma skos:exactMatch NCIT:C8998 Medullary Carcinoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021059 obsolete head or neck disorder/disorder skos:exactMatch NCIT:C27571 Head and Neck Disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0021066 urinary system neoplasm skos:exactMatch NCIT:C192666 Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urinary tract neoplasm LEXMATCH -MONDO:0021200 obsolete rare disease skos:exactMatch NCIT:C4873 Rare Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0036491 obsolete rare childhood malignant neoplasm skos:exactMatch NCIT:C114451 Rare Childhood Malignant Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0043881 obsolete acute eosinophilic leukemia skos:exactMatch NCIT:C26813 Acute Eosinophilic Leukemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021200 obsolete rare disease skos:exactMatch NCIT:C4873 Rare Disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0036491 obsolete rare childhood malignant neoplasm skos:exactMatch NCIT:C114451 Rare Childhood Malignant Neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0043881 obsolete acute eosinophilic leukemia skos:exactMatch NCIT:C26813 Acute Eosinophilic Leukemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044037 livedo reticularis skos:exactMatch NCIT:C74524 Livedo Reticularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label livedo reticularis LEXMATCH -MONDO:0700092 neurodevelopmental disorder skos:exactMatch NCIT:C1535926 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0700092 neurodevelopmental disorder skos:exactMatch NCIT:C1535926 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C27383 Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis LEXMATCH MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:exactMatch NCIT:C139012 Breast Implant-Associated Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast implant-associated anaplastic large cell lymphoma LEXMATCH MONDO:0850154 tongue carcinoma skos:exactMatch NCIT:C4824 Tongue Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tongue carcinoma LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv index 66d1b55a..0d98da1f 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -1,114 +1,114 @@ -subject_id subject_label predicate_id object_id object_label mapping_justification comment -MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch OMIM:137560 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch OMIM:145410 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:exactMatch OMIM:210730 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes skos:exactMatch OMIM:242870 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009941 obsolete Pygmy skos:exactMatch OMIM:265850 pygmy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 skos:exactMatch OMIM:300640 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome skos:exactMatch OMIM:300660 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010470 obsolete Baratela-Scott syndrome skos:exactMatch OMIM:300881 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch OMIM:301590 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch OMIM:306500 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch OMIM:607236 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013586 obsolete Chitotriosidase deficiency skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 skos:exactMatch OMIM:614157 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch OMIM:614192 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013701 obsolete MRT32 skos:exactMatch OMIM:614339 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013733 obsolete accelerated tumor formation, susceptibility to skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014330 obsolete eculizumab, poor response to skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014763 obsolete Bombay phenotype skos:exactMatch OMIM:616754 bombay phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 skos:exactMatch OMIM:616958 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014978 obsolete preimplantation embryonic lethality 2 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020612 obsolete blood group, kidd system skos:exactMatch OMIM:111000 blood group, kidd system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020613 obsolete blood group--lke skos:exactMatch OMIM:111130 blood group--lke semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020614 obsolete blood group--lutheran system skos:exactMatch OMIM:111200 blood group--lutheran system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020615 obsolete blood group system, landsteiner-wiener skos:exactMatch OMIM:111250 blood group system, landsteiner-wiener semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020616 obsolete blood group, mn skos:exactMatch OMIM:111300 blood group, mn semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020617 obsolete blood group--ok skos:exactMatch OMIM:111380 blood group--ok semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020618 obsolete blood group--private systems skos:exactMatch OMIM:111500 blood group--private systems semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020619 obsolete blood group, langereis system skos:exactMatch OMIM:111600 blood group, langereis system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020626 obsolete yt blood group antigen skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020668 obsolete spastic paraplegia 5B skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 skos:exactMatch OMIM:175020 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024996 obsolete Usher syndrome, type 2b skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027416 obsolete retinal cone dystrophy 2 skos:exactMatch OMIM:601251 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044220 obsolete blood group, 1 system skos:exactMatch OMIM:110800 blood group, 1 system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044221 obsolete blood group--lutheran inhibitor skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044222 obsolete blood group, p1pk system skos:exactMatch OMIM:111400 blood group, p1pk system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044224 obsolete apocrine gland secretion, variation 1n skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044228 obsolete eegbqtl skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044234 obsolete hrm2 skos:exactMatch OMIM:139450 hair morphology 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044235 obsolete hsr skos:exactMatch OMIM:139900 hand skill, relative semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044236 obsolete hepatitis b vaccine, response to skos:exactMatch OMIM:142395 hepatitis B vaccine, response to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044240 obsolete musical perfect pitch skos:exactMatch OMIM:159300 musical perfect pitch semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044246 obsolete nystagmus, voluntary skos:exactMatch OMIM:164170 nystagmus, voluntary semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044248 obsolete thiourea tasting skos:exactMatch OMIM:171200 thiourea tasting semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 skos:exactMatch OMIM:210750 skin/hair/eye pigmentation, variation in, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 skos:exactMatch OMIM:227220 skin/hair/eye pigmentation, variation in, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 skos:exactMatch OMIM:227240 skin/hair/eye pigmentation, variation in, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044257 obsolete lutheran null skos:exactMatch OMIM:247420 lutheran null semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044261 obsolete menoq1 skos:exactMatch OMIM:300488 menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 skos:exactMatch OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044273 obsolete hypertension, diastolic, resistance to skos:exactMatch OMIM:608622 hypertension, diastolic, resistance to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044274 obsolete hemoglobin, high altitude adaptation skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044275 obsolete carotid intimal medial thickness 1 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044280 obsolete glycerol quantitative trait locus skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044281 obsolete c3hex, ability to smell skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044282 obsolete blood group, vel system skos:exactMatch OMIM:615264 blood group, vel system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching MONDO_MAPPINGS +subject_id subject_label predicate_id object_id object_label mapping_justification confidence comment +MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch OMIM:137560 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch OMIM:145410 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:exactMatch OMIM:210730 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes skos:exactMatch OMIM:242870 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0009941 obsolete Pygmy skos:exactMatch OMIM:265850 pygmy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 skos:exactMatch OMIM:300640 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome skos:exactMatch OMIM:300660 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0010470 obsolete Baratela-Scott syndrome skos:exactMatch OMIM:300881 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch OMIM:301590 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch OMIM:306500 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch OMIM:607236 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0013586 obsolete Chitotriosidase deficiency skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 skos:exactMatch OMIM:614157 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch OMIM:614192 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0013701 obsolete MRT32 skos:exactMatch OMIM:614339 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0013733 obsolete accelerated tumor formation, susceptibility to skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0014330 obsolete eculizumab, poor response to skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0014763 obsolete Bombay phenotype skos:exactMatch OMIM:616754 bombay phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 skos:exactMatch OMIM:616958 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0014978 obsolete preimplantation embryonic lethality 2 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020612 obsolete blood group, kidd system skos:exactMatch OMIM:111000 blood group, kidd system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020613 obsolete blood group--lke skos:exactMatch OMIM:111130 blood group--lke semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020614 obsolete blood group--lutheran system skos:exactMatch OMIM:111200 blood group--lutheran system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020615 obsolete blood group system, landsteiner-wiener skos:exactMatch OMIM:111250 blood group system, landsteiner-wiener semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020616 obsolete blood group, mn skos:exactMatch OMIM:111300 blood group, mn semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020617 obsolete blood group--ok skos:exactMatch OMIM:111380 blood group--ok semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020618 obsolete blood group--private systems skos:exactMatch OMIM:111500 blood group--private systems semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020619 obsolete blood group, langereis system skos:exactMatch OMIM:111600 blood group, langereis system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020626 obsolete yt blood group antigen skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020668 obsolete spastic paraplegia 5B skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 skos:exactMatch OMIM:175020 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024996 obsolete Usher syndrome, type 2b skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027416 obsolete retinal cone dystrophy 2 skos:exactMatch OMIM:601251 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044220 obsolete blood group, 1 system skos:exactMatch OMIM:110800 blood group, 1 system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044221 obsolete blood group--lutheran inhibitor skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044222 obsolete blood group, p1pk system skos:exactMatch OMIM:111400 blood group, p1pk system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044224 obsolete apocrine gland secretion, variation 1n skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044228 obsolete eegbqtl skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044234 obsolete hrm2 skos:exactMatch OMIM:139450 hair morphology 2 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044235 obsolete hsr skos:exactMatch OMIM:139900 hand skill, relative semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044236 obsolete hepatitis b vaccine, response to skos:exactMatch OMIM:142395 hepatitis B vaccine, response to semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044240 obsolete musical perfect pitch skos:exactMatch OMIM:159300 musical perfect pitch semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044246 obsolete nystagmus, voluntary skos:exactMatch OMIM:164170 nystagmus, voluntary semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044248 obsolete thiourea tasting skos:exactMatch OMIM:171200 thiourea tasting semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 skos:exactMatch OMIM:210750 skin/hair/eye pigmentation, variation in, 6 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 skos:exactMatch OMIM:227220 skin/hair/eye pigmentation, variation in, 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 skos:exactMatch OMIM:227240 skin/hair/eye pigmentation, variation in, 5 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044257 obsolete lutheran null skos:exactMatch OMIM:247420 lutheran null semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044261 obsolete menoq1 skos:exactMatch OMIM:300488 menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 skos:exactMatch OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044273 obsolete hypertension, diastolic, resistance to skos:exactMatch OMIM:608622 hypertension, diastolic, resistance to semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044274 obsolete hemoglobin, high altitude adaptation skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044275 obsolete carotid intimal medial thickness 1 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044280 obsolete glycerol quantitative trait locus skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044281 obsolete c3hex, ability to smell skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044282 obsolete blood group, vel system skos:exactMatch OMIM:615264 blood group, vel system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv index 689e5ccd..51a42c98 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv @@ -1,5 +1,5 @@ -subject_id subject_label predicate_id object_id object_label mapping_justification comment -MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated skos:exactMatch OMIMPS:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000218 obsolete preimplantation embryonic lethality skos:exactMatch OMIMPS:616814 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in skos:exactMatch OMIMPS:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044278 obsolete short sleeper skos:exactMatch OMIMPS:612975 Short sleep, familial natural semapv:UnspecifiedMatching MONDO_MAPPINGS +subject_id subject_label predicate_id object_id object_label mapping_justification confidence comment +MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated skos:exactMatch OMIMPS:610799 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0000218 obsolete preimplantation embryonic lethality skos:exactMatch OMIMPS:616814 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in skos:exactMatch OMIMPS:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044278 obsolete short sleeper skos:exactMatch OMIMPS:612975 Short sleep, familial natural semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv index 7db1460b..d949ef54 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv @@ -1,880 +1,880 @@ -subject_id subject_label predicate_id object_id object_label mapping_justification comment -MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 Neuroendocrine tumor with other location semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015111 obsolete gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015113 obsolete rare vascular liver disease skos:exactMatch Orphanet:101938 Rare vascular liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015115 obsolete rare genetic metabolic liver disease skos:exactMatch Orphanet:101940 Rare metabolic liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015116 obsolete rare biliary tract disease skos:exactMatch Orphanet:101941 Rare biliary tract disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015117 obsolete rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015118 obsolete rare pulmonary disease skos:exactMatch Orphanet:101944 Rare pulmonary disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015119 obsolete bronchopulmonary tumor skos:exactMatch Orphanet:101945 Rare bronchopulmonary tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015121 obsolete rare eye tumor skos:exactMatch Orphanet:101950 Rare eye tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015122 obsolete rare diabetes mellitus skos:exactMatch Orphanet:101952 Rare diabetes mellitus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015123 obsolete rare inherited dyslipidemia skos:exactMatch Orphanet:101953 Rare dyslipidemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015124 obsolete rare adrenal disease skos:exactMatch Orphanet:101954 Rare adrenal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015125 obsolete rare thyroid disease skos:exactMatch Orphanet:101955 Rare thyroid disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015139 obsolete rare epilepsy skos:exactMatch Orphanet:101998 Rare epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015141 obsolete disorder of medulla oblongata skos:exactMatch Orphanet:102000 Medullar disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015143 obsolete rare movement disorder skos:exactMatch Orphanet:102003 Rare movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015144 obsolete brain inflammatory disease skos:exactMatch Orphanet:102005 Brain inflammatory disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015145 obsolete neurovascular malformation skos:exactMatch Orphanet:102006 Neurovascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015162 obsolete rare syndromic intellectual disability skos:exactMatch Orphanet:102369 Rare syndromic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015180 obsolete intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015188 obsolete metabolic disorder with intestinal involvement skos:exactMatch Orphanet:104013 Metabolic disease with intestinal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015207 obsolete non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 Non-syndromic esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015208 obsolete syndromic esophageal malformation skos:exactMatch Orphanet:108961 Syndromic esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015209 obsolete non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015210 obsolete syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015214 obsolete syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015219 obsolete non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:108991 Syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015223 obsolete rare anemia skos:exactMatch Orphanet:108997 Rare anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015224 obsolete rare intoxication skos:exactMatch Orphanet:108999 Rare disorder due to toxic effects semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015227 obsolete non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015245 obsolete rare intestinal disease skos:exactMatch Orphanet:117569 Rare intestinal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015305 obsolete rare endometriosis skos:exactMatch Orphanet:137820 Extrapelvic endometriosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015310 obsolete syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015319 obsolete rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015323 obsolete teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015328 obsolete rare bone development disorder skos:exactMatch Orphanet:139012 Rare bone development disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch Orphanet:139021 Malformation syndrome with short stature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015330 obsolete overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015334 obsolete branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015368 obsolete neuro-ophthalmological disease skos:exactMatch Orphanet:140653 Neuro-ophthalmological disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015475 obsolete rare head and neck malformation skos:exactMatch Orphanet:155832 Rare head and neck malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015485 obsolete primary hereditary glaucoma skos:exactMatch Orphanet:156005 Primary early-onset glaucoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015488 obsolete predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 Predominantly large-vessel vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015489 obsolete predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015490 obsolete predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 Predominantly small-vessel vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015499 obsolete paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015502 obsolete pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015504 obsolete larynx anomaly skos:exactMatch Orphanet:156249 Larynx anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015506 obsolete rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 Rare syndrome with cardiac malformations semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015507 obsolete rare genetic hepatic disease skos:exactMatch Orphanet:156601 Rare genetic hepatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015508 obsolete hereditary parenchymatous liver disease skos:exactMatch Orphanet:156604 Genetic parenchymatous liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015509 obsolete hereditary biliary tract disease skos:exactMatch Orphanet:156607 Genetic biliary tract disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015510 obsolete rare genetic respiratory disease skos:exactMatch Orphanet:156610 Rare genetic respiratory disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015511 obsolete rare genetic urogenital disease skos:exactMatch Orphanet:156619 Rare genetic urogenital disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015512 obsolete genetic hypertension skos:exactMatch Orphanet:156629 Rare genetic cause of hypertension semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015513 obsolete rare genetic endocrine disease skos:exactMatch Orphanet:156638 Rare genetic endocrine disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015549 obsolete rare genetic hematologic disease skos:exactMatch Orphanet:158300 Rare genetic hematologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015575 obsolete rare bacterial infectious disease skos:exactMatch Orphanet:163582 Rare bacterial infectious disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015576 obsolete rare viral disease skos:exactMatch Orphanet:163585 Rare viral disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015577 obsolete rare parasitic disease skos:exactMatch Orphanet:163588 Rare parasitic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015578 obsolete rare mycosis skos:exactMatch Orphanet:163591 Rare mycosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015603 obsolete rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 Rare odontal or periodontal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015615 obsolete rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 Rare genetic gastroenterological disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015616 obsolete rare genetic intestinal disease skos:exactMatch Orphanet:165655 Genetic intestinal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015617 obsolete hereditary gastro-esophageal disease skos:exactMatch Orphanet:165658 Genetic gastro-esophageal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015618 obsolete genetic pancreatic disease skos:exactMatch Orphanet:165661 Genetic pancreatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015620 obsolete syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015621 obsolete rare abdominal surgical disease skos:exactMatch Orphanet:165711 Rare abdominal surgical disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015655 obsolete cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 Cerebral malformation with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015656 obsolete metabolic disease with epilepsy skos:exactMatch Orphanet:166481 Metabolic diseases with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015659 obsolete infectious disease with epilepsy skos:exactMatch Orphanet:166490 Infectious disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015668 obsolete hereditary dentin defect skos:exactMatch Orphanet:167759 Hereditary dentin defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015673 obsolete rare cardiac tumor skos:exactMatch Orphanet:168194 Rare cardiac tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015682 obsolete primary peritoneal tumor skos:exactMatch Orphanet:168803 Primary peritoneal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015765 obsolete congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015777 obsolete adult hypothyroidism skos:exactMatch Orphanet:177101 Rare adult hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015778 obsolete syndromic hypothyroidism skos:exactMatch Orphanet:177107 Syndromic hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations skos:exactMatch Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015846 obsolete syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 Syndromic uterovaginal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015851 obsolete rare breast malformation skos:exactMatch Orphanet:180163 Rare breast malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015852 obsolete excess breast volume or number skos:exactMatch Orphanet:180170 Excess breast volume or number semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015853 obsolete deficient breast volume or number skos:exactMatch Orphanet:180173 Deficient breast volume or number semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015858 obsolete rare non-malformative breast disease skos:exactMatch Orphanet:180202 Rare non-malformative breast disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015861 obsolete rare uterine adnexal tumor skos:exactMatch Orphanet:180220 Rare uterine adnexal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015868 obsolete rare breast tumor skos:exactMatch Orphanet:180250 Rare breast tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015870 obsolete rare malignant breast tumor skos:exactMatch Orphanet:180257 Rare malignant breast tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015875 obsolete rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015876 obsolete rare vulvovaginal tumor skos:exactMatch Orphanet:180312 Rare vulvovaginal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015881 obsolete gastroesophageal tumor skos:exactMatch Orphanet:180821 Rare gastroesophageal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015886 obsolete rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 Rare diabetes mellitus type 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015887 obsolete rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 Rare diabetes mellitus type 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015888 obsolete other rare diabetes mellitus skos:exactMatch Orphanet:181381 Other rare diabetes mellitus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015889 obsolete rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies skos:exactMatch Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015893 obsolete rare hypothyroidism skos:exactMatch Orphanet:181396 Rare hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015894 obsolete rare hyperthyroidism skos:exactMatch Orphanet:181399 Rare hyperthyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015896 obsolete rare hypoparathyroidism skos:exactMatch Orphanet:181405 Rare hypoparathyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015897 obsolete rare hyperparathyroidism skos:exactMatch Orphanet:181408 Rare hyperparathyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015899 obsolete rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 Rare primary hyperaldosteronism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015901 obsolete rare inherited hyperlipidemia skos:exactMatch Orphanet:181422 Rare hyperlipidemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015910 obsolete rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 Rare constitutional hemolytic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 Rare acquired hemolytic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015913 obsolete rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015915 obsolete cerebellar malformation skos:exactMatch Orphanet:182061 Cerebellar malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015918 obsolete rare neurodegenerative disease skos:exactMatch Orphanet:182070 Rare neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015921 obsolete ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 ARX-related epileptic encephalopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015922 obsolete channelopathy with epilepsy skos:exactMatch Orphanet:182083 Channelopathy with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015930 obsolete respiratory malformation skos:exactMatch Orphanet:182111 Respiratory malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015931 obsolete rare urogenital tumor skos:exactMatch Orphanet:182114 Rare urogenital tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015940 obsolete rare rheumatologic disease skos:exactMatch Orphanet:182231 Rare rheumatologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015946 obsolete rare genetic epidermal disorder skos:exactMatch Orphanet:183426 Genetic epidermal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015948 obsolete rare genetic skin vascular disorder skos:exactMatch Orphanet:183478 Genetic skin vascular disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015950 obsolete inherited skin tumor skos:exactMatch Orphanet:183487 Genetic skin tumor or hamartoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015954 obsolete rare genetic headache disorder skos:exactMatch Orphanet:183509 Rare genetic headache semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015955 obsolete rare genetic epilepsy skos:exactMatch Orphanet:183512 Rare genetic epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015957 obsolete rare genetic movement disorder skos:exactMatch Orphanet:183521 Rare genetic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015958 obsolete rare genetic bone disease skos:exactMatch Orphanet:183524 Rare genetic bone disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature skos:exactMatch Orphanet:183527 Genetic bone tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015961 obsolete hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015963 obsolete inherited renal tumor skos:exactMatch Orphanet:183595 Genetic renal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015966 obsolete hereditary eye tumor skos:exactMatch Orphanet:183619 Genetic eye tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015969 obsolete rare genetic thyroid disease skos:exactMatch Orphanet:183631 Rare genetic thyroid disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015971 obsolete rare genetic adrenal disease skos:exactMatch Orphanet:183637 Rare genetic adrenal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:183651 Rare constitutional anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016034 obsolete cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature skos:exactMatch Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016109 obsolete autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 Autosomal recessive distal myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch Orphanet:206656 Non-dystrophic myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood skos:exactMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016116 obsolete generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch Orphanet:206959 Muscular glycogenosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016152 obsolete qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016157 obsolete qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016170 obsolete chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 Chronic polyradiculoneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016172 obsolete acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 Acquired sensory ganglionopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016179 obsolete acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016196 obsolete qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase skos:exactMatch Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016221 obsolete temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016228 obsolete rare vascular tumor skos:exactMatch Orphanet:211237 Rare vascular tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016229 obsolete hereditary vascular anomaly skos:exactMatch Orphanet:211240 Genetic vascular anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016230 obsolete simple vascular malformation skos:exactMatch Orphanet:211243 Simple vascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016232 obsolete rare venous malformation skos:exactMatch Orphanet:211252 Rare venous malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch Orphanet:211255 Rare lymphatic system anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016235 obsolete complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016252 obsolete rare uterine cancer skos:exactMatch Orphanet:213564 Rare uterine cancer semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016253 obsolete rare cancer of corpus uteri skos:exactMatch Orphanet:213569 Rare cancer of corpus uteri semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016274 obsolete rare cancer of cervix uteri skos:exactMatch Orphanet:213761 Rare cancer of cervix uteri semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016320 obsolete rare hereditary thrombophilia skos:exactMatch Orphanet:217454 Rare hereditary thrombophilia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016343 obsolete unclassified cardiomyopathy skos:exactMatch Orphanet:217678 Unclassified cardiomyopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016347 obsolete rare cardiac rhythm disease skos:exactMatch Orphanet:218436 Rare cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016348 obsolete non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016375 obsolete acquired peripheral movement disorder skos:exactMatch Orphanet:221114 Acquired peripheral movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016397 obsolete lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 Lysosomal disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016398 obsolete peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 Peroxisomal disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016401 obsolete energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016402 obsolete mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 Mitochondrial disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016405 obsolete sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016406 obsolete other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 Other metabolic disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016409 obsolete primary congenital hypothyroidism skos:exactMatch Orphanet:226295 Primary congenital hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016428 obsolete multiple sclerosis variant skos:exactMatch Orphanet:228145 Multiple sclerosis variant semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016434 obsolete acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016493 obsolete variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231419 Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016517 obsolete rare genetic vascular disease skos:exactMatch Orphanet:233655 Rare genetic vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016565 obsolete syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016623 obsolete rare deficiency anemia skos:exactMatch Orphanet:248293 Rare deficiency anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016627 obsolete rare hemorrhagic disorder skos:exactMatch Orphanet:248308 Rare hemorrhagic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016701 obsolete oligoastrocytic tumor skos:exactMatch Orphanet:251651 Oligoastrocytic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016726 obsolete neuronal tumor skos:exactMatch Orphanet:251924 Neuronal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016744 obsolete primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016767 obsolete cutaneous lichen planus skos:exactMatch Orphanet:254370 Rare cutaneous lichen planus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016768 obsolete rare mucosal lichen planus skos:exactMatch Orphanet:254373 Rare mucosal lichen planus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy skos:exactMatch Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016803 obsolete unspecified inborn mitochondrial disorder skos:exactMatch Orphanet:254837 Unspecified mitochondrial disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016998 obsolete complex chromosomal rearrangement skos:exactMatch Orphanet:263708 Complex chromosomal rearrangement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016999 obsolete X chromosome number anomaly skos:exactMatch Orphanet:263714 X chromosome number anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017000 obsolete X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017001 obsolete X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017002 obsolete polysomy of X chromosome skos:exactMatch Orphanet:263723 Polysomy of X chromosome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch Orphanet:263746 Y chromosome number anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017006 obsolete X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 X and Y chromosomal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017011 obsolete uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 Uniparental disomy of chromosome X semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017090 obsolete midline cerebral malformation skos:exactMatch Orphanet:268926 Midline cerebral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017104 obsolete central nervous system cystic malformation skos:exactMatch Orphanet:269194 Central nervous system cystic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017114 obsolete global cerebellar malformation skos:exactMatch Orphanet:269224 Global cerebellar malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature skos:exactMatch Orphanet:269523 Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature skos:exactMatch Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017127 obsolete inherited soft tissue tumor skos:exactMatch Orphanet:271832 Genetic soft tissue tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017128 obsolete inherited digestive tract tumor skos:exactMatch Orphanet:271835 Genetic digestive tract tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017129 obsolete inherited cardiac tumor skos:exactMatch Orphanet:271841 Genetic cardiac tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017130 obsolete genetic urogenital tumor skos:exactMatch Orphanet:271844 Genetic urogenital tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017131 obsolete hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017234 obsolete inherited prion disease skos:exactMatch Orphanet:280400 Inherited human prion disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017259 obsolete systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 Systemic diseases with anterior uveitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017260 obsolete systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 Systemic diseases with posterior uveitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017261 obsolete systemic diseases with panuveitis skos:exactMatch Orphanet:280933 Systemic diseases with panuveitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017270 obsolete autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 Autosomal ichthyosis syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs skos:exactMatch Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017302 obsolete qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017368 obsolete systemic disease with skin involvement skos:exactMatch Orphanet:290836 Systemic disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017371 obsolete rare head and neck tumor skos:exactMatch Orphanet:290849 Rare head and neck tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017414 obsolete rare nevus skos:exactMatch Orphanet:294057 Rare nevus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017420 obsolete intercalary limb defects skos:exactMatch Orphanet:294927 Intercalary limb defects semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017431 obsolete non-syndromic limb overgrowth skos:exactMatch Orphanet:294953 Non syndromic limb overgrowth semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017432 obsolete syndrome with limb reduction defects skos:exactMatch Orphanet:294955 Syndrome with limb reduction defects semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017633 obsolete rare intoxication due to medical products skos:exactMatch Orphanet:306640 Rare intoxication due to medical products semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017644 obsolete rare tremor disorder skos:exactMatch Orphanet:306712 Rare tremor disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017645 obsolete rare choreic movement disorder skos:exactMatch Orphanet:306715 Rare choreic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017646 obsolete neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 Neurodegenerative disease with chorea semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017647 obsolete postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017650 obsolete rare myoclonus skos:exactMatch Orphanet:306747 Rare myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017673 obsolete isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017710 obsolete congenital systemic veins anomaly skos:exactMatch Orphanet:3091 Congenital systemic veins anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017797 obsolete rare odontologic tumor skos:exactMatch Orphanet:314425 Rare odontogenic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 Autoimmune disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017912 obsolete X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 X-linked pure spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017954 obsolete pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017955 obsolete granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017957 obsolete unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017961 obsolete 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 46,XX disorder of gonadal development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017966 obsolete 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 46,XY disorder of gonadal development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017976 obsolete disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 Difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 Syndrome with combined immunodeficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018185 obsolete congenital anomaly of the great veins skos:exactMatch Orphanet:363189 Congenital anomaly of the great veins semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018188 obsolete hereditary intestinal polyposis skos:exactMatch Orphanet:363314 Genetic intestinal polyposis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018191 obsolete tumor of testis and paratestis skos:exactMatch Orphanet:363472 Tumor of testis and paratestis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018239 obsolete aggrecan-related bone disorder skos:exactMatch Orphanet:364817 Aggrecan-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018299 obsolete sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 Sphingolipidosis with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018318 obsolete disorder of asparagine metabolism skos:exactMatch Orphanet:391381 Disorder of asparagine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018329 obsolete persistent combined dystonia skos:exactMatch Orphanet:391711 Persistent combined dystonia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018368 primary peritoneal serous/papillary carcinoma skos:exactMatch Orphanet:398980 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018377 obsolete rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018384 obsolete avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018385 obsolete osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018387 obsolete rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018390 obsolete male infertility due to sperm disorder skos:exactMatch Orphanet:399771 Male infertility due to sperm disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018391 obsolete male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018395 obsolete male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 Male infertility due to sperm motility disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018400 obsolete rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018402 obsolete female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018403 obsolete female infertility due to an implantation defect skos:exactMatch Orphanet:399882 Rare female infertility due to an implantation defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018404 obsolete rare genetic male infertility skos:exactMatch Orphanet:399980 Rare genetic male infertility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018410 obsolete rare genetic female infertility skos:exactMatch Orphanet:400008 Rare genetic female infertility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018444 obsolete female infertility due to fertilization defect skos:exactMatch Orphanet:404469 Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018454 obsolete dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018457 obsolete rare genetic bone development disorder skos:exactMatch Orphanet:404584 Rare genetic bone development disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018488 obsolete rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018497 obsolete rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 Rare autonomic nervous system disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018501 obsolete rare carcinoma of stomach skos:exactMatch Orphanet:423771 Rare carcinoma of stomach semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018520 obsolete rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 Rare epithelial tumor of pancreas semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018557 obsolete rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018558 obsolete syndrome with wooly hair skos:exactMatch Orphanet:434809 Syndrome with woolly hair semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018562 obsolete hereditary otorhinolaryngological malformation skos:exactMatch Orphanet:435603 Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018579 obsolete disorder of ketone body transport skos:exactMatch Orphanet:438072 Disorder of keton body transport semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018609 obsolete syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018652 obsolete biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018701 obsolete congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018718 obsolete vascular tumor with associated anomalies skos:exactMatch Orphanet:458827 Vascular tumor with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018720 obsolete common cystic lymphatic malformation skos:exactMatch Orphanet:458833 Common cystic lymphatic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018721 obsolete rare combined vascular malformation skos:exactMatch Orphanet:458837 Rare combined vascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018723 obsolete rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 Rare vascular malformation of major vessels semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018728 obsolete rare genetic capillary malformation skos:exactMatch Orphanet:459526 Rare genetic capillary malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018729 obsolete genetic vascular tumor skos:exactMatch Orphanet:459543 Rare genetic vascular tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018730 obsolete rare genetic venous malformation skos:exactMatch Orphanet:459548 Rare genetic venous malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 Rare disease with malignant hyperthermia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency skos:exactMatch Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018791 obsolete Moyomoya angiopathy skos:exactMatch Orphanet:477768 Moyamoya angiopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018792 obsolete Moyamoya syndrome skos:exactMatch Orphanet:477771 Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018796 obsolete isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018797 obsolete genetic cardiac malformation skos:exactMatch Orphanet:477805 Genetic cardiac malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018798 obsolete other genetic dermis disorder skos:exactMatch Orphanet:477808 Other genetic dermis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018799 obsolete rare hypercholesterolemia skos:exactMatch Orphanet:477811 Rare hypercholesterolemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018833 obsolete rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018880 obsolete rare teratologic disease skos:exactMatch Orphanet:52662 Rare teratologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018928 obsolete rare hepatic disease skos:exactMatch Orphanet:57146 Rare hepatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018972 obsolete rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019038 obsolete rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 Rare maxillo-facial surgical disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019041 obsolete rare genetic inherited tumor skos:exactMatch Orphanet:68336 Rare genetic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019043 obsolete rare genetic skin disease skos:exactMatch Orphanet:68346 Rare genetic skin disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019047 obsolete rare deafness skos:exactMatch Orphanet:68361 Rare deafness semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019048 obsolete rare vascular disease skos:exactMatch Orphanet:68362 Rare vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019049 obsolete rare dystonia skos:exactMatch Orphanet:68363 Rare dystonia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019058 obsolete neurometabolic disease skos:exactMatch Orphanet:68385 Neurometabolic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019059 obsolete rare parkinsonian disorder skos:exactMatch Orphanet:68402 Rare parkinsonian disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019062 obsolete rare infectious disease skos:exactMatch Orphanet:68416 Rare infectious disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019063 obsolete vascular anomaly skos:exactMatch Orphanet:68419 Vascular anomaly or angioma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019066 obsolete syndrome with brachydactyly skos:exactMatch Orphanet:69028 Dysostosis with brachydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019096 obsolete rare pulmonary hypertension skos:exactMatch Orphanet:71198 Rare pulmonary hypertension semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019099 obsolete rare soft tissue tumor skos:exactMatch Orphanet:71209 Rare soft tissue tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019110 obsolete rare central nervous system or retinal vascular disease skos:exactMatch Orphanet:71281 Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019117 obsolete genetic nervous system disorder skos:exactMatch Orphanet:71859 Rare genetic neurological disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019183 obsolete inherited odontologic disease skos:exactMatch Orphanet:77830 Rare genetic odontologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019252 obsolete other metabolic disease with skin involvement skos:exactMatch Orphanet:79217 Other metabolic disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019271 obsolete acrokeratoderma skos:exactMatch Orphanet:79356 Acrokeratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019274 obsolete other epidermal disorder skos:exactMatch Orphanet:79359 Other epidermal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019275 obsolete other genetic epidermal disease skos:exactMatch Orphanet:79360 Other genetic epidermal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019277 obsolete epidermal appendage anomaly skos:exactMatch Orphanet:79362 Epidermal appendage anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019281 obsolete isolated genetic hair shaft abnormality skos:exactMatch Orphanet:79366 Isolated hair shaft abnormality semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019282 obsolete syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 Syndromic hair shaft abnormality semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019285 obsolete syndromic nail anomaly skos:exactMatch Orphanet:79370 Syndromic nail anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019286 obsolete sebaceous gland anomaly skos:exactMatch Orphanet:79372 Sebaceous gland anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019292 obsolete dermis elastic tissue disorder skos:exactMatch Orphanet:79378 Dermis elastic tissue disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019298 obsolete rare urticaria skos:exactMatch Orphanet:79384 Rare urticaria semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019299 obsolete unclassified genetic skin disorder skos:exactMatch Orphanet:79385 Unclassified genetic skin disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019300 obsolete rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 Rare skin tumor or hamartoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019301 obsolete metabolic disease with skin involvement skos:exactMatch Orphanet:79387 Metabolic disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019304 obsolete rare photodermatosis skos:exactMatch Orphanet:79390 Rare photodermatosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019305 obsolete immune deficiency with skin involvement skos:exactMatch Orphanet:79391 Immune deficiency with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019513 obsolete esophageal malformation skos:exactMatch Orphanet:88993 Esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019515 obsolete rare dementia skos:exactMatch Orphanet:89043 Rare dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019519 obsolete rare skin disease skos:exactMatch Orphanet:89826 Rare skin disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019546 obsolete other acquired skin disease skos:exactMatch Orphanet:90077 Other acquired skin disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019590 obsolete rare endocrine growth disease skos:exactMatch Orphanet:90692 Rare endocrine growth disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019599 obsolete primary lipodystrophy skos:exactMatch Orphanet:90970 Primary lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019602 obsolete other inborn metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019619 obsolete duplication of the esophagus skos:exactMatch Orphanet:91357 Duplication of the esophagus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019684 obsolete rare bone disease skos:exactMatch Orphanet:93419 Rare bone disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019688 obsolete sulfation-related bone disorder skos:exactMatch Orphanet:93423 Sulfation-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019689 obsolete perlecan-related bone disorder skos:exactMatch Orphanet:93424 Perlecan-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019704 obsolete primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019712 obsolete patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019717 obsolete chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 Chromosomal disease with overgrowth semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019744 obsolete rare renal tubular disease skos:exactMatch Orphanet:93603 Rare renal tubular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019747 obsolete hematological disorder with renal involvement skos:exactMatch Orphanet:93614 Hematological disorder with renal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019748 obsolete rare cause of hypertension skos:exactMatch Orphanet:93618 Rare cause of hypertension semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019749 obsolete rare renal tumor skos:exactMatch Orphanet:93619 Rare renal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019750 obsolete rare renal disease skos:exactMatch Orphanet:93626 Rare renal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019800 obsolete chronic hepatic porphyria skos:exactMatch Orphanet:95161 Chronic hepatic porphyria semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019822 obsolete arterial duct anomaly skos:exactMatch Orphanet:95485 Arterial duct anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin skos:exactMatch Orphanet:95503 Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin skos:exactMatch Orphanet:95505 Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019841 obsolete pituitary hormone defiency from vascular origin skos:exactMatch Orphanet:95611 Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019936 obsolete rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 Rare otorhinolaryngological malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019937 obsolete rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 Rare gynecologic or obstetric disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019965 obsolete rare benign ovarian tumor skos:exactMatch Orphanet:97293 Rare benign ovarian tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019996 obsolete rare cardiac disease skos:exactMatch Orphanet:97929 Rare cardiac disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019997 obsolete rare gastroenterologic disease skos:exactMatch Orphanet:97935 Rare gastroenterologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019998 obsolete gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020000 obsolete rare respiratory disease skos:exactMatch Orphanet:97955 Rare respiratory disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020002 obsolete rare surgical thoracic disease skos:exactMatch Orphanet:97962 Rare surgical thoracic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020003 obsolete rare surgical cardiac disease skos:exactMatch Orphanet:97965 Rare surgical cardiac disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020004 obsolete rare eye disease skos:exactMatch Orphanet:97966 Rare ophthalmic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020005 obsolete rare endocrine disease skos:exactMatch Orphanet:97978 Rare endocrine disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020008 obsolete rare immune disease skos:exactMatch Orphanet:98004 Rare immune disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020009 obsolete rare neurologic disease skos:exactMatch Orphanet:98006 Rare neurologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020011 obsolete rare headache disorder skos:exactMatch Orphanet:98022 Rare headache semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020013 obsolete rare odontologic disease skos:exactMatch Orphanet:98026 Rare odontologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020014 obsolete rare disease with odontological manifestation skos:exactMatch Orphanet:98027 Rare disease with odontological manifestation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020015 obsolete rare circulatory system disease skos:exactMatch Orphanet:98028 Rare circulatory system disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 Rare otorhinolaryngologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020018 obsolete cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020019 obsolete digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020023 obsolete respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020025 obsolete rare male infertility skos:exactMatch Orphanet:98048 Rare male infertility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020026 obsolete rare female infertility skos:exactMatch Orphanet:98049 Rare female infertility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020027 obsolete rare allergic disease skos:exactMatch Orphanet:98050 Rare allergic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020028 obsolete rare allergic respiratory disease skos:exactMatch Orphanet:98052 Rare allergic respiratory disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020029 obsolete rare genetic cardiac disease skos:exactMatch Orphanet:98054 Rare genetic cardiac disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020030 obsolete rare genetic renal disease skos:exactMatch Orphanet:98056 Rare genetic renal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020032 obsolete rare urinary tract tumor skos:exactMatch Orphanet:98058 Rare urinary tract tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020033 obsolete rare digestive tumor skos:exactMatch Orphanet:98059 Rare digestive tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020034 obsolete rare respiratory tract neoplasm skos:exactMatch Orphanet:98060 Rare respiratory tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020035 obsolete rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020036 obsolete rare nervous system tumor skos:exactMatch Orphanet:98062 Rare nervous system tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 Rare gynecological tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020055 obsolete autosomal uniparental disomy skos:exactMatch Orphanet:98152 Autosomal uniparental disomy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020059 obsolete gonosome number anomaly skos:exactMatch Orphanet:98156 Sex-chromosome number anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020060 obsolete gonosome structural anomaly skos:exactMatch Orphanet:98157 Sex-chromosome structural anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet:98159 Chromosome X structural anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020069 obsolete chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020090 obsolete male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020091 obsolete male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020100 obsolete rare hemolytic anemia skos:exactMatch Orphanet:98363 Rare hemolytic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020116 obsolete rare blood coagulation disease skos:exactMatch Orphanet:98429 Rare coagulation disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020125 obsolete acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 Acquired neuromuscular junction disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020126 obsolete rare peripheral neuropathy skos:exactMatch Orphanet:98496 Rare peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020130 obsolete malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 Malformation of the cerebellar vermis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020131 obsolete malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020132 obsolete cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020133 obsolete posterior fossa malformation skos:exactMatch Orphanet:98519 Posterior fossa malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020136 obsolete neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 Neurodegenerative disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020137 obsolete frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 Frontotemporal degeneration with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020138 obsolete ataxia with dementia skos:exactMatch Orphanet:98538 Ataxia with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020139 obsolete early-onset ataxia with dementia skos:exactMatch Orphanet:98539 Early-onset ataxia with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020140 obsolete late-onset ataxia with dementia skos:exactMatch Orphanet:98540 Late-onset ataxia with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020141 obsolete infectious disease with dementia skos:exactMatch Orphanet:98542 Infectious disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020142 obsolete metabolic disease with dementia skos:exactMatch Orphanet:98543 Metabolic disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020144 obsolete cerebrovascular dementia skos:exactMatch Orphanet:98549 Rare cerebrovascular dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020148 obsolete syndromic aniridia skos:exactMatch Orphanet:98557 Syndromic aniridia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020151 obsolete rare palpebral disease skos:exactMatch Orphanet:98560 Rare palpebral disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020152 obsolete rare eyelid malformation skos:exactMatch Orphanet:98561 Congenital malformation of the eyelid semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020154 obsolete microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 Microblepharon-ablephara syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020155 obsolete eyelid border anomaly skos:exactMatch Orphanet:98564 Eyelid border anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020156 obsolete syndromic ankyloblepharon skos:exactMatch Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020157 obsolete syndromic palpebral coloboma skos:exactMatch Orphanet:98566 Syndromic eyelid coloboma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020158 obsolete eyelids malposition disorder skos:exactMatch Orphanet:98567 Rare eyelid malposition disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020162 obsolete secondary ectropion skos:exactMatch Orphanet:98571 Secondary ectropion semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020165 obsolete syndromic epicanthus skos:exactMatch Orphanet:98574 Syndromic epicanthus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020167 obsolete malposition of external canthus skos:exactMatch Orphanet:98576 Syndromic outer canthal malposition semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly skos:exactMatch Orphanet:98594 Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020192 obsolete rare lacrimal system disease skos:exactMatch Orphanet:98602 Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98605 Lacrimal drainage system anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020197 obsolete EEC syndrome and related syndrome skos:exactMatch Orphanet:98609 EEC syndrome and related disorders semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020198 obsolete rare conjunctival disease skos:exactMatch Orphanet:98610 Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020206 obsolete rare refraction anomaly skos:exactMatch Orphanet:98618 Rare refraction anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020209 obsolete rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 Rare hyperopia and astigmatism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020210 obsolete syndromic hyperopia skos:exactMatch Orphanet:98622 Syndromic hyperopia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020211 obsolete syndromic keratoconus skos:exactMatch Orphanet:98623 Syndromic keratoconus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020216 obsolete secondary dysgenetic glaucoma skos:exactMatch Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020219 obsolete corneogoniodysgenesis skos:exactMatch Orphanet:98635 Corneodysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020222 obsolete rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020223 obsolete lens and zonula anomaly skos:exactMatch Orphanet:98639 Rare lens disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020224 obsolete rare cataract skos:exactMatch Orphanet:98640 Rare disorder with lens opacification semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020225 obsolete syndromic cataract skos:exactMatch Orphanet:98641 Syndromic cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020226 obsolete chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 Chromosomal anomaly with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020228 obsolete cataract associated with a metabolic disease skos:exactMatch Orphanet:98644 Metabolic disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020230 obsolete renal disease with cataract skos:exactMatch Orphanet:98646 Renal disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020232 obsolete musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 Musculoskeletal disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020233 obsolete dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 Dentocutaneous disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020234 obsolete craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 Craniofacial anomaly with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020235 obsolete lens size anomaly skos:exactMatch Orphanet:98652 Lens size anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020236 obsolete lens position anomaly skos:exactMatch Orphanet:98653 Lens position anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020237 obsolete lens shape anomaly skos:exactMatch Orphanet:98655 Lens shape anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020240 obsolete syndromic retinitis pigmentosa skos:exactMatch Orphanet:98661 Syndromic rod-cone dystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020251 obsolete rare strabismus and restriction syndrome skos:exactMatch Orphanet:98681 Rare disorder with strabismus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020253 obsolete syndrome with a symptomatic strabismus skos:exactMatch Orphanet:98683 Syndromic disorder with strabismus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020254 obsolete craniostenosis associated with a strabismus skos:exactMatch Orphanet:98684 Craniostenosis with strabismus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020284 obsolete heart position anomaly skos:exactMatch Orphanet:98716 Heart position anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020286 obsolete aortic malformation skos:exactMatch Orphanet:98718 Aortic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020288 obsolete atrioventricular valve anomaly skos:exactMatch Orphanet:98720 Atrioventricular valve anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020293 obsolete ascending aorta anomaly skos:exactMatch Orphanet:98725 Ascending aorta anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020294 obsolete atrial defect and interatrial communication skos:exactMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020339 obsolete X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 X-linked complex spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020343 obsolete alpha-crystallinopathy skos:exactMatch Orphanet:98910 Alpha-crystallinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021027 obsolete genetic hair anomaly skos:exactMatch Orphanet:183450 Genetic hair anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021028 obsolete genetic nail anomaly skos:exactMatch Orphanet:183454 Genetic nail anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021034 obsolete hereditary alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022409 obsolete nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 Renal ciliopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024471 obsolete non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 Non-inflammatory vasculopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024987 obsolete genetic urogenital tract malformation skos:exactMatch Orphanet:156622 Genetic urogenital tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0025511 obsolete inherited neuroendocrine tumor skos:exactMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026141 obsolete genetic urticaria skos:exactMatch Orphanet:182734 Genetic urticaria semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026150 obsolete genetic erythrokeratoderma skos:exactMatch Orphanet:183438 Genetic erythrokeratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026151 obsolete genetic acrokeratoderma skos:exactMatch Orphanet:183441 Genetic acrokeratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026152 obsolete genetic porokeratosis skos:exactMatch Orphanet:183444 Genetic porokeratosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026157 obsolete genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026160 obsolete genetic dermis disorder skos:exactMatch Orphanet:183472 Genetic dermis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026166 obsolete genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026167 obsolete genetic neuromuscular disease skos:exactMatch Orphanet:183497 Genetic neuromuscular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026170 obsolete genetic central nervous system malformation skos:exactMatch Orphanet:183506 Genetic central nervous system malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026173 obsolete rare genetic medullar disease skos:exactMatch Orphanet:183515 Rare genetic medullar disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026180 obsolete genetic congenital limb malformation skos:exactMatch Orphanet:183536 Genetic congenital limb malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026181 obsolete genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 Genetic renal or urinary tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026182 obsolete genetic cranial malformation skos:exactMatch Orphanet:183542 Genetic cranial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026183 obsolete genetic digestive tract malformation skos:exactMatch Orphanet:183545 Genetic digestive tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026185 obsolete genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026186 obsolete genetic developmental defect of the eye skos:exactMatch Orphanet:183557 Genetic developmental defect of the eye semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026187 obsolete genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 Genetic malformation syndrome with short stature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026188 obsolete genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026192 obsolete genetic glomerular disease skos:exactMatch Orphanet:183586 Genetic glomerular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026193 obsolete genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 Genetic thrombotic microangiopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026203 obsolete genetic respiratory malformation skos:exactMatch Orphanet:183622 Genetic respiratory malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026209 obsolete genetic polyendocrinopathy skos:exactMatch Orphanet:183643 Genetic polyendocrinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027652 5-fluorouracil toxicity skos:exactMatch Orphanet:240839 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027653 abacavir toxicity skos:exactMatch Orphanet:240841 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027655 allopurinol toxicity skos:exactMatch Orphanet:240845 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027664 cisplatin toxicity skos:exactMatch Orphanet:240863 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027666 codeine toxicity skos:exactMatch Orphanet:240867 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027667 efavirenz toxicity skos:exactMatch Orphanet:240869 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027668 flucloxacilline toxicity skos:exactMatch Orphanet:240871 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027675 irinotecan toxicity skos:exactMatch Orphanet:240885 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027677 isoniazid toxicity skos:exactMatch Orphanet:240887 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027687 raltegravir toxicity skos:exactMatch Orphanet:240905 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027696 voriconazole toxicity skos:exactMatch Orphanet:240921 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027751 obsolete serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 Serpinopathy with loss of serpin function semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027929 obsolete genetic polycythemia skos:exactMatch Orphanet:250165 Genetic polycythemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0028569 obsolete genetic interstitial lung disease skos:exactMatch Orphanet:264992 Genetic interstitial lung disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch Orphanet:498345 Biliary atresia and associated disorders semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 Laminopathy with striated muscle involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031016 obsolete genetic disorder of sex development skos:exactMatch Orphanet:325690 Genetic difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031689 obsolete genetic progeroid syndrome skos:exactMatch Orphanet:363245 Genetic progeroid syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031697 obsolete genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031949 obsolete genetic neurovascular malformation skos:exactMatch Orphanet:371436 Genetic neurovascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031952 obsolete genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 Genetic syndromic esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0032011 obsolete biological anomaly skos:exactMatch Orphanet:377790 Biological anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0032013 obsolete clinical syndrome skos:exactMatch Orphanet:377792 Clinical syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0032014 obsolete particular clinical situation in a disease or syndrome skos:exactMatch Orphanet:377793 Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033056 obsolete genetic facial cleft skos:exactMatch Orphanet:414726 Genetic facial cleft semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033169 curariform drugs toxicity skos:exactMatch Orphanet:413693 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033170 statin toxicity skos:exactMatch Orphanet:413696 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033181 phenytoin or carbamazepine toxicity skos:exactMatch Orphanet:414750 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033329 obsolete genetic precocious puberty skos:exactMatch Orphanet:435554 Genetic precocious puberty semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033331 obsolete genetic precocious puberty in female skos:exactMatch Orphanet:435564 Genetic precocious puberty in female semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033334 obsolete genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 Genetic nose and cavum anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033335 obsolete genetic larynx anomaly skos:exactMatch Orphanet:435609 Genetic larynx anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033336 obsolete genetic tracheal anomaly skos:exactMatch Orphanet:435612 Genetic tracheal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034039 obsolete genetic hemoglobinopathy skos:exactMatch Orphanet:466066 Genetic hemoglobinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034443 obsolete genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 Genetic premature ovarian failure semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034661 obsolete syndromic biliary atresia skos:exactMatch Orphanet:498350 Syndromic biliary atresia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034667 obsolete longitudinal limb defect skos:exactMatch Orphanet:498457 Longitudinal limb defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034668 obsolete terminal transverse limb defect skos:exactMatch Orphanet:498461 Terminal transverse limb defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034669 obsolete non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034670 obsolete non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034671 obsolete non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034733 obsolete cochlear nerve deficiency skos:exactMatch Orphanet:502318 Cochlear nerve deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034901 obsolete ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 ATP13A2-related parkinsonism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034926 obsolete rare disorder with entropion skos:exactMatch Orphanet:519270 Rare disorder with entropion semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034931 obsolete rare conjunctivitis skos:exactMatch Orphanet:519280 Rare conjunctivitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034937 obsolete syndromic ectopia lentis skos:exactMatch Orphanet:519292 Syndromic ectopia lentis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034943 obsolete isolated vitreoretinopathy skos:exactMatch Orphanet:519304 Isolated vitreoretinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034953 obsolete syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 Syndromic inherited retinal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034954 obsolete syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 Syndromic vitreoretinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034968 obsolete rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 Rare ocular motility/alignment disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch Orphanet:519396 Isolated microspherophakia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035001 obsolete rare disorder of the visual organs skos:exactMatch Orphanet:520814 Rare disorder of the visual organs semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035002 obsolete isolated inherited retinal disorder skos:exactMatch Orphanet:520817 Isolated inherited retinal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035013 obsolete genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 Genetic primary orthostatic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035014 obsolete primary orthostatic disorder skos:exactMatch Orphanet:521236 Primary orthostatic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035037 obsolete rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 Rare genetic disorder of the visual organs semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035274 obsolete anomaly of the coronary ostia skos:exactMatch Orphanet:542822 Anomaly of the coronary ostia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035328 obsolete rare disorder due to poisoning skos:exactMatch Orphanet:556508 Rare disorder due to poisoning semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035561 obsolete sporadic human prion disease skos:exactMatch Orphanet:576356 Sporadic human prion disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035786 obsolete non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 Non-syndromic cloacal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574671 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0037860 obsolete rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 Rare systemic or rheumatologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0038268 obsolete autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 Autoimmune neurological channelopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044636 obsolete rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 Rare hyperkinetic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800084 obsolete primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800087 obsolete type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800090 obsolete ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0957001 obsolete hereditary mixed dermis disorder skos:exactMatch Orphanet:183481 Genetic mixed dermis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0957024 obsolete hereditary 46,XX disorder of sex development skos:exactMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0957025 obsolete hereditary 46,XY disorder of sex development skos:exactMatch Orphanet:325706 Genetic 46,XY difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 Morphological anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching MONDO_MAPPINGS +subject_id subject_label predicate_id object_id object_label mapping_justification confidence comment +MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 Neuroendocrine tumor with other location semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015111 obsolete gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015113 obsolete rare vascular liver disease skos:exactMatch Orphanet:101938 Rare vascular liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015115 obsolete rare genetic metabolic liver disease skos:exactMatch Orphanet:101940 Rare metabolic liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015116 obsolete rare biliary tract disease skos:exactMatch Orphanet:101941 Rare biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015117 obsolete rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015118 obsolete rare pulmonary disease skos:exactMatch Orphanet:101944 Rare pulmonary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015119 obsolete bronchopulmonary tumor skos:exactMatch Orphanet:101945 Rare bronchopulmonary tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015121 obsolete rare eye tumor skos:exactMatch Orphanet:101950 Rare eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015122 obsolete rare diabetes mellitus skos:exactMatch Orphanet:101952 Rare diabetes mellitus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015123 obsolete rare inherited dyslipidemia skos:exactMatch Orphanet:101953 Rare dyslipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015124 obsolete rare adrenal disease skos:exactMatch Orphanet:101954 Rare adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015125 obsolete rare thyroid disease skos:exactMatch Orphanet:101955 Rare thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015139 obsolete rare epilepsy skos:exactMatch Orphanet:101998 Rare epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015141 obsolete disorder of medulla oblongata skos:exactMatch Orphanet:102000 Medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015143 obsolete rare movement disorder skos:exactMatch Orphanet:102003 Rare movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015144 obsolete brain inflammatory disease skos:exactMatch Orphanet:102005 Brain inflammatory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015145 obsolete neurovascular malformation skos:exactMatch Orphanet:102006 Neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015162 obsolete rare syndromic intellectual disability skos:exactMatch Orphanet:102369 Rare syndromic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015180 obsolete intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015188 obsolete metabolic disorder with intestinal involvement skos:exactMatch Orphanet:104013 Metabolic disease with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015207 obsolete non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 Non-syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015208 obsolete syndromic esophageal malformation skos:exactMatch Orphanet:108961 Syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015209 obsolete non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015210 obsolete syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015214 obsolete syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015219 obsolete non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:108991 Syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015223 obsolete rare anemia skos:exactMatch Orphanet:108997 Rare anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015224 obsolete rare intoxication skos:exactMatch Orphanet:108999 Rare disorder due to toxic effects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015227 obsolete non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015245 obsolete rare intestinal disease skos:exactMatch Orphanet:117569 Rare intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015305 obsolete rare endometriosis skos:exactMatch Orphanet:137820 Extrapelvic endometriosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015310 obsolete syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015319 obsolete rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015323 obsolete teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015328 obsolete rare bone development disorder skos:exactMatch Orphanet:139012 Rare bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch Orphanet:139021 Malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015330 obsolete overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015334 obsolete branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015368 obsolete neuro-ophthalmological disease skos:exactMatch Orphanet:140653 Neuro-ophthalmological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015475 obsolete rare head and neck malformation skos:exactMatch Orphanet:155832 Rare head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015485 obsolete primary hereditary glaucoma skos:exactMatch Orphanet:156005 Primary early-onset glaucoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015488 obsolete predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 Predominantly large-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015489 obsolete predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015490 obsolete predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 Predominantly small-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015499 obsolete paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015502 obsolete pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015504 obsolete larynx anomaly skos:exactMatch Orphanet:156249 Larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015506 obsolete rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 Rare syndrome with cardiac malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015507 obsolete rare genetic hepatic disease skos:exactMatch Orphanet:156601 Rare genetic hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015508 obsolete hereditary parenchymatous liver disease skos:exactMatch Orphanet:156604 Genetic parenchymatous liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015509 obsolete hereditary biliary tract disease skos:exactMatch Orphanet:156607 Genetic biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015510 obsolete rare genetic respiratory disease skos:exactMatch Orphanet:156610 Rare genetic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015511 obsolete rare genetic urogenital disease skos:exactMatch Orphanet:156619 Rare genetic urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015512 obsolete genetic hypertension skos:exactMatch Orphanet:156629 Rare genetic cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015513 obsolete rare genetic endocrine disease skos:exactMatch Orphanet:156638 Rare genetic endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015549 obsolete rare genetic hematologic disease skos:exactMatch Orphanet:158300 Rare genetic hematologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015575 obsolete rare bacterial infectious disease skos:exactMatch Orphanet:163582 Rare bacterial infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015576 obsolete rare viral disease skos:exactMatch Orphanet:163585 Rare viral disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015577 obsolete rare parasitic disease skos:exactMatch Orphanet:163588 Rare parasitic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015578 obsolete rare mycosis skos:exactMatch Orphanet:163591 Rare mycosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015603 obsolete rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 Rare odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015615 obsolete rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 Rare genetic gastroenterological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015616 obsolete rare genetic intestinal disease skos:exactMatch Orphanet:165655 Genetic intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015617 obsolete hereditary gastro-esophageal disease skos:exactMatch Orphanet:165658 Genetic gastro-esophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015618 obsolete genetic pancreatic disease skos:exactMatch Orphanet:165661 Genetic pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015620 obsolete syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015621 obsolete rare abdominal surgical disease skos:exactMatch Orphanet:165711 Rare abdominal surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015655 obsolete cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 Cerebral malformation with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015656 obsolete metabolic disease with epilepsy skos:exactMatch Orphanet:166481 Metabolic diseases with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015659 obsolete infectious disease with epilepsy skos:exactMatch Orphanet:166490 Infectious disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015668 obsolete hereditary dentin defect skos:exactMatch Orphanet:167759 Hereditary dentin defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015673 obsolete rare cardiac tumor skos:exactMatch Orphanet:168194 Rare cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015682 obsolete primary peritoneal tumor skos:exactMatch Orphanet:168803 Primary peritoneal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015765 obsolete congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015777 obsolete adult hypothyroidism skos:exactMatch Orphanet:177101 Rare adult hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015778 obsolete syndromic hypothyroidism skos:exactMatch Orphanet:177107 Syndromic hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations skos:exactMatch Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015846 obsolete syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 Syndromic uterovaginal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015851 obsolete rare breast malformation skos:exactMatch Orphanet:180163 Rare breast malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015852 obsolete excess breast volume or number skos:exactMatch Orphanet:180170 Excess breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015853 obsolete deficient breast volume or number skos:exactMatch Orphanet:180173 Deficient breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015858 obsolete rare non-malformative breast disease skos:exactMatch Orphanet:180202 Rare non-malformative breast disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015861 obsolete rare uterine adnexal tumor skos:exactMatch Orphanet:180220 Rare uterine adnexal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015868 obsolete rare breast tumor skos:exactMatch Orphanet:180250 Rare breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015870 obsolete rare malignant breast tumor skos:exactMatch Orphanet:180257 Rare malignant breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015875 obsolete rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015876 obsolete rare vulvovaginal tumor skos:exactMatch Orphanet:180312 Rare vulvovaginal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015881 obsolete gastroesophageal tumor skos:exactMatch Orphanet:180821 Rare gastroesophageal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015886 obsolete rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 Rare diabetes mellitus type 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015887 obsolete rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 Rare diabetes mellitus type 2 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015888 obsolete other rare diabetes mellitus skos:exactMatch Orphanet:181381 Other rare diabetes mellitus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015889 obsolete rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies skos:exactMatch Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015893 obsolete rare hypothyroidism skos:exactMatch Orphanet:181396 Rare hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015894 obsolete rare hyperthyroidism skos:exactMatch Orphanet:181399 Rare hyperthyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015896 obsolete rare hypoparathyroidism skos:exactMatch Orphanet:181405 Rare hypoparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015897 obsolete rare hyperparathyroidism skos:exactMatch Orphanet:181408 Rare hyperparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015899 obsolete rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 Rare primary hyperaldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015901 obsolete rare inherited hyperlipidemia skos:exactMatch Orphanet:181422 Rare hyperlipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015910 obsolete rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 Rare constitutional hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 Rare acquired hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015913 obsolete rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015915 obsolete cerebellar malformation skos:exactMatch Orphanet:182061 Cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015918 obsolete rare neurodegenerative disease skos:exactMatch Orphanet:182070 Rare neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015921 obsolete ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 ARX-related epileptic encephalopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015922 obsolete channelopathy with epilepsy skos:exactMatch Orphanet:182083 Channelopathy with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015930 obsolete respiratory malformation skos:exactMatch Orphanet:182111 Respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015931 obsolete rare urogenital tumor skos:exactMatch Orphanet:182114 Rare urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015940 obsolete rare rheumatologic disease skos:exactMatch Orphanet:182231 Rare rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015946 obsolete rare genetic epidermal disorder skos:exactMatch Orphanet:183426 Genetic epidermal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015948 obsolete rare genetic skin vascular disorder skos:exactMatch Orphanet:183478 Genetic skin vascular disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015950 obsolete inherited skin tumor skos:exactMatch Orphanet:183487 Genetic skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015954 obsolete rare genetic headache disorder skos:exactMatch Orphanet:183509 Rare genetic headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015955 obsolete rare genetic epilepsy skos:exactMatch Orphanet:183512 Rare genetic epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015957 obsolete rare genetic movement disorder skos:exactMatch Orphanet:183521 Rare genetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015958 obsolete rare genetic bone disease skos:exactMatch Orphanet:183524 Rare genetic bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature skos:exactMatch Orphanet:183527 Genetic bone tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015961 obsolete hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015963 obsolete inherited renal tumor skos:exactMatch Orphanet:183595 Genetic renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015966 obsolete hereditary eye tumor skos:exactMatch Orphanet:183619 Genetic eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015969 obsolete rare genetic thyroid disease skos:exactMatch Orphanet:183631 Rare genetic thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015971 obsolete rare genetic adrenal disease skos:exactMatch Orphanet:183637 Rare genetic adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:183651 Rare constitutional anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016034 obsolete cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature skos:exactMatch Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016109 obsolete autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 Autosomal recessive distal myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch Orphanet:206656 Non-dystrophic myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood skos:exactMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016116 obsolete generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch Orphanet:206959 Muscular glycogenosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016152 obsolete qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016157 obsolete qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016170 obsolete chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 Chronic polyradiculoneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016172 obsolete acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 Acquired sensory ganglionopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016179 obsolete acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016196 obsolete qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase skos:exactMatch Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016221 obsolete temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016228 obsolete rare vascular tumor skos:exactMatch Orphanet:211237 Rare vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016229 obsolete hereditary vascular anomaly skos:exactMatch Orphanet:211240 Genetic vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016230 obsolete simple vascular malformation skos:exactMatch Orphanet:211243 Simple vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016232 obsolete rare venous malformation skos:exactMatch Orphanet:211252 Rare venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch Orphanet:211255 Rare lymphatic system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016235 obsolete complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016252 obsolete rare uterine cancer skos:exactMatch Orphanet:213564 Rare uterine cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016253 obsolete rare cancer of corpus uteri skos:exactMatch Orphanet:213569 Rare cancer of corpus uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016274 obsolete rare cancer of cervix uteri skos:exactMatch Orphanet:213761 Rare cancer of cervix uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016320 obsolete rare hereditary thrombophilia skos:exactMatch Orphanet:217454 Rare hereditary thrombophilia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016343 obsolete unclassified cardiomyopathy skos:exactMatch Orphanet:217678 Unclassified cardiomyopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016347 obsolete rare cardiac rhythm disease skos:exactMatch Orphanet:218436 Rare cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016348 obsolete non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016375 obsolete acquired peripheral movement disorder skos:exactMatch Orphanet:221114 Acquired peripheral movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016397 obsolete lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 Lysosomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016398 obsolete peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 Peroxisomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016401 obsolete energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016402 obsolete mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 Mitochondrial disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016405 obsolete sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016406 obsolete other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 Other metabolic disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016409 obsolete primary congenital hypothyroidism skos:exactMatch Orphanet:226295 Primary congenital hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016428 obsolete multiple sclerosis variant skos:exactMatch Orphanet:228145 Multiple sclerosis variant semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016434 obsolete acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016493 obsolete variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231419 Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016517 obsolete rare genetic vascular disease skos:exactMatch Orphanet:233655 Rare genetic vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016565 obsolete syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016623 obsolete rare deficiency anemia skos:exactMatch Orphanet:248293 Rare deficiency anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016627 obsolete rare hemorrhagic disorder skos:exactMatch Orphanet:248308 Rare hemorrhagic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016701 obsolete oligoastrocytic tumor skos:exactMatch Orphanet:251651 Oligoastrocytic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016726 obsolete neuronal tumor skos:exactMatch Orphanet:251924 Neuronal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016744 obsolete primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016767 obsolete cutaneous lichen planus skos:exactMatch Orphanet:254370 Rare cutaneous lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016768 obsolete rare mucosal lichen planus skos:exactMatch Orphanet:254373 Rare mucosal lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy skos:exactMatch Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016803 obsolete unspecified inborn mitochondrial disorder skos:exactMatch Orphanet:254837 Unspecified mitochondrial disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016998 obsolete complex chromosomal rearrangement skos:exactMatch Orphanet:263708 Complex chromosomal rearrangement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016999 obsolete X chromosome number anomaly skos:exactMatch Orphanet:263714 X chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017000 obsolete X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017001 obsolete X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017002 obsolete polysomy of X chromosome skos:exactMatch Orphanet:263723 Polysomy of X chromosome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch Orphanet:263746 Y chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017006 obsolete X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 X and Y chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017011 obsolete uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 Uniparental disomy of chromosome X semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017090 obsolete midline cerebral malformation skos:exactMatch Orphanet:268926 Midline cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017104 obsolete central nervous system cystic malformation skos:exactMatch Orphanet:269194 Central nervous system cystic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017114 obsolete global cerebellar malformation skos:exactMatch Orphanet:269224 Global cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature skos:exactMatch Orphanet:269523 Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature skos:exactMatch Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017127 obsolete inherited soft tissue tumor skos:exactMatch Orphanet:271832 Genetic soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017128 obsolete inherited digestive tract tumor skos:exactMatch Orphanet:271835 Genetic digestive tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017129 obsolete inherited cardiac tumor skos:exactMatch Orphanet:271841 Genetic cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017130 obsolete genetic urogenital tumor skos:exactMatch Orphanet:271844 Genetic urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017131 obsolete hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017234 obsolete inherited prion disease skos:exactMatch Orphanet:280400 Inherited human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017259 obsolete systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 Systemic diseases with anterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017260 obsolete systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 Systemic diseases with posterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017261 obsolete systemic diseases with panuveitis skos:exactMatch Orphanet:280933 Systemic diseases with panuveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017270 obsolete autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 Autosomal ichthyosis syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs skos:exactMatch Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017302 obsolete qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017368 obsolete systemic disease with skin involvement skos:exactMatch Orphanet:290836 Systemic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017371 obsolete rare head and neck tumor skos:exactMatch Orphanet:290849 Rare head and neck tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017414 obsolete rare nevus skos:exactMatch Orphanet:294057 Rare nevus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017420 obsolete intercalary limb defects skos:exactMatch Orphanet:294927 Intercalary limb defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017431 obsolete non-syndromic limb overgrowth skos:exactMatch Orphanet:294953 Non syndromic limb overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017432 obsolete syndrome with limb reduction defects skos:exactMatch Orphanet:294955 Syndrome with limb reduction defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017633 obsolete rare intoxication due to medical products skos:exactMatch Orphanet:306640 Rare intoxication due to medical products semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017644 obsolete rare tremor disorder skos:exactMatch Orphanet:306712 Rare tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017645 obsolete rare choreic movement disorder skos:exactMatch Orphanet:306715 Rare choreic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017646 obsolete neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 Neurodegenerative disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017647 obsolete postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017650 obsolete rare myoclonus skos:exactMatch Orphanet:306747 Rare myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017673 obsolete isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017710 obsolete congenital systemic veins anomaly skos:exactMatch Orphanet:3091 Congenital systemic veins anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017797 obsolete rare odontologic tumor skos:exactMatch Orphanet:314425 Rare odontogenic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 Autoimmune disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017912 obsolete X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 X-linked pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017954 obsolete pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017955 obsolete granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017957 obsolete unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017961 obsolete 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 46,XX disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017966 obsolete 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 46,XY disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017976 obsolete disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 Difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 Syndrome with combined immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018185 obsolete congenital anomaly of the great veins skos:exactMatch Orphanet:363189 Congenital anomaly of the great veins semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018188 obsolete hereditary intestinal polyposis skos:exactMatch Orphanet:363314 Genetic intestinal polyposis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018191 obsolete tumor of testis and paratestis skos:exactMatch Orphanet:363472 Tumor of testis and paratestis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018239 obsolete aggrecan-related bone disorder skos:exactMatch Orphanet:364817 Aggrecan-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018299 obsolete sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 Sphingolipidosis with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018318 obsolete disorder of asparagine metabolism skos:exactMatch Orphanet:391381 Disorder of asparagine metabolism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018329 obsolete persistent combined dystonia skos:exactMatch Orphanet:391711 Persistent combined dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018368 primary peritoneal serous/papillary carcinoma skos:exactMatch Orphanet:398980 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018377 obsolete rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018384 obsolete avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018385 obsolete osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018387 obsolete rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018390 obsolete male infertility due to sperm disorder skos:exactMatch Orphanet:399771 Male infertility due to sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018391 obsolete male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018395 obsolete male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 Male infertility due to sperm motility disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018400 obsolete rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018402 obsolete female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018403 obsolete female infertility due to an implantation defect skos:exactMatch Orphanet:399882 Rare female infertility due to an implantation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018404 obsolete rare genetic male infertility skos:exactMatch Orphanet:399980 Rare genetic male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018410 obsolete rare genetic female infertility skos:exactMatch Orphanet:400008 Rare genetic female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018444 obsolete female infertility due to fertilization defect skos:exactMatch Orphanet:404469 Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018454 obsolete dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018457 obsolete rare genetic bone development disorder skos:exactMatch Orphanet:404584 Rare genetic bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018488 obsolete rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018497 obsolete rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 Rare autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018501 obsolete rare carcinoma of stomach skos:exactMatch Orphanet:423771 Rare carcinoma of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018520 obsolete rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 Rare epithelial tumor of pancreas semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018557 obsolete rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018558 obsolete syndrome with wooly hair skos:exactMatch Orphanet:434809 Syndrome with woolly hair semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018562 obsolete hereditary otorhinolaryngological malformation skos:exactMatch Orphanet:435603 Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018579 obsolete disorder of ketone body transport skos:exactMatch Orphanet:438072 Disorder of keton body transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018609 obsolete syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018652 obsolete biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018701 obsolete congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018718 obsolete vascular tumor with associated anomalies skos:exactMatch Orphanet:458827 Vascular tumor with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018720 obsolete common cystic lymphatic malformation skos:exactMatch Orphanet:458833 Common cystic lymphatic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018721 obsolete rare combined vascular malformation skos:exactMatch Orphanet:458837 Rare combined vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018723 obsolete rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 Rare vascular malformation of major vessels semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018728 obsolete rare genetic capillary malformation skos:exactMatch Orphanet:459526 Rare genetic capillary malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018729 obsolete genetic vascular tumor skos:exactMatch Orphanet:459543 Rare genetic vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018730 obsolete rare genetic venous malformation skos:exactMatch Orphanet:459548 Rare genetic venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 Rare disease with malignant hyperthermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency skos:exactMatch Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018791 obsolete Moyomoya angiopathy skos:exactMatch Orphanet:477768 Moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018792 obsolete Moyamoya syndrome skos:exactMatch Orphanet:477771 Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018796 obsolete isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018797 obsolete genetic cardiac malformation skos:exactMatch Orphanet:477805 Genetic cardiac malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018798 obsolete other genetic dermis disorder skos:exactMatch Orphanet:477808 Other genetic dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018799 obsolete rare hypercholesterolemia skos:exactMatch Orphanet:477811 Rare hypercholesterolemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018833 obsolete rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018880 obsolete rare teratologic disease skos:exactMatch Orphanet:52662 Rare teratologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018928 obsolete rare hepatic disease skos:exactMatch Orphanet:57146 Rare hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018972 obsolete rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019038 obsolete rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 Rare maxillo-facial surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019041 obsolete rare genetic inherited tumor skos:exactMatch Orphanet:68336 Rare genetic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019043 obsolete rare genetic skin disease skos:exactMatch Orphanet:68346 Rare genetic skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019047 obsolete rare deafness skos:exactMatch Orphanet:68361 Rare deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019048 obsolete rare vascular disease skos:exactMatch Orphanet:68362 Rare vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019049 obsolete rare dystonia skos:exactMatch Orphanet:68363 Rare dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019058 obsolete neurometabolic disease skos:exactMatch Orphanet:68385 Neurometabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019059 obsolete rare parkinsonian disorder skos:exactMatch Orphanet:68402 Rare parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019062 obsolete rare infectious disease skos:exactMatch Orphanet:68416 Rare infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019063 obsolete vascular anomaly skos:exactMatch Orphanet:68419 Vascular anomaly or angioma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019066 obsolete syndrome with brachydactyly skos:exactMatch Orphanet:69028 Dysostosis with brachydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019096 obsolete rare pulmonary hypertension skos:exactMatch Orphanet:71198 Rare pulmonary hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019099 obsolete rare soft tissue tumor skos:exactMatch Orphanet:71209 Rare soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019110 obsolete rare central nervous system or retinal vascular disease skos:exactMatch Orphanet:71281 Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019117 obsolete genetic nervous system disorder skos:exactMatch Orphanet:71859 Rare genetic neurological disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019183 obsolete inherited odontologic disease skos:exactMatch Orphanet:77830 Rare genetic odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019252 obsolete other metabolic disease with skin involvement skos:exactMatch Orphanet:79217 Other metabolic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019271 obsolete acrokeratoderma skos:exactMatch Orphanet:79356 Acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019274 obsolete other epidermal disorder skos:exactMatch Orphanet:79359 Other epidermal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019275 obsolete other genetic epidermal disease skos:exactMatch Orphanet:79360 Other genetic epidermal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019277 obsolete epidermal appendage anomaly skos:exactMatch Orphanet:79362 Epidermal appendage anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019281 obsolete isolated genetic hair shaft abnormality skos:exactMatch Orphanet:79366 Isolated hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019282 obsolete syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 Syndromic hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019285 obsolete syndromic nail anomaly skos:exactMatch Orphanet:79370 Syndromic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019286 obsolete sebaceous gland anomaly skos:exactMatch Orphanet:79372 Sebaceous gland anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019292 obsolete dermis elastic tissue disorder skos:exactMatch Orphanet:79378 Dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019298 obsolete rare urticaria skos:exactMatch Orphanet:79384 Rare urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019299 obsolete unclassified genetic skin disorder skos:exactMatch Orphanet:79385 Unclassified genetic skin disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019300 obsolete rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 Rare skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019301 obsolete metabolic disease with skin involvement skos:exactMatch Orphanet:79387 Metabolic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019304 obsolete rare photodermatosis skos:exactMatch Orphanet:79390 Rare photodermatosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019305 obsolete immune deficiency with skin involvement skos:exactMatch Orphanet:79391 Immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019513 obsolete esophageal malformation skos:exactMatch Orphanet:88993 Esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019515 obsolete rare dementia skos:exactMatch Orphanet:89043 Rare dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019519 obsolete rare skin disease skos:exactMatch Orphanet:89826 Rare skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019546 obsolete other acquired skin disease skos:exactMatch Orphanet:90077 Other acquired skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019590 obsolete rare endocrine growth disease skos:exactMatch Orphanet:90692 Rare endocrine growth disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019599 obsolete primary lipodystrophy skos:exactMatch Orphanet:90970 Primary lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019602 obsolete other inborn metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019619 obsolete duplication of the esophagus skos:exactMatch Orphanet:91357 Duplication of the esophagus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019684 obsolete rare bone disease skos:exactMatch Orphanet:93419 Rare bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019688 obsolete sulfation-related bone disorder skos:exactMatch Orphanet:93423 Sulfation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019689 obsolete perlecan-related bone disorder skos:exactMatch Orphanet:93424 Perlecan-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019704 obsolete primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019712 obsolete patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019717 obsolete chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 Chromosomal disease with overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019744 obsolete rare renal tubular disease skos:exactMatch Orphanet:93603 Rare renal tubular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019747 obsolete hematological disorder with renal involvement skos:exactMatch Orphanet:93614 Hematological disorder with renal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019748 obsolete rare cause of hypertension skos:exactMatch Orphanet:93618 Rare cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019749 obsolete rare renal tumor skos:exactMatch Orphanet:93619 Rare renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019750 obsolete rare renal disease skos:exactMatch Orphanet:93626 Rare renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019800 obsolete chronic hepatic porphyria skos:exactMatch Orphanet:95161 Chronic hepatic porphyria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019822 obsolete arterial duct anomaly skos:exactMatch Orphanet:95485 Arterial duct anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin skos:exactMatch Orphanet:95503 Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin skos:exactMatch Orphanet:95505 Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019841 obsolete pituitary hormone defiency from vascular origin skos:exactMatch Orphanet:95611 Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019936 obsolete rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 Rare otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019937 obsolete rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 Rare gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019965 obsolete rare benign ovarian tumor skos:exactMatch Orphanet:97293 Rare benign ovarian tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019996 obsolete rare cardiac disease skos:exactMatch Orphanet:97929 Rare cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019997 obsolete rare gastroenterologic disease skos:exactMatch Orphanet:97935 Rare gastroenterologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019998 obsolete gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020000 obsolete rare respiratory disease skos:exactMatch Orphanet:97955 Rare respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020002 obsolete rare surgical thoracic disease skos:exactMatch Orphanet:97962 Rare surgical thoracic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020003 obsolete rare surgical cardiac disease skos:exactMatch Orphanet:97965 Rare surgical cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020004 obsolete rare eye disease skos:exactMatch Orphanet:97966 Rare ophthalmic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020005 obsolete rare endocrine disease skos:exactMatch Orphanet:97978 Rare endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020008 obsolete rare immune disease skos:exactMatch Orphanet:98004 Rare immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020009 obsolete rare neurologic disease skos:exactMatch Orphanet:98006 Rare neurologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020011 obsolete rare headache disorder skos:exactMatch Orphanet:98022 Rare headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020013 obsolete rare odontologic disease skos:exactMatch Orphanet:98026 Rare odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020014 obsolete rare disease with odontological manifestation skos:exactMatch Orphanet:98027 Rare disease with odontological manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020015 obsolete rare circulatory system disease skos:exactMatch Orphanet:98028 Rare circulatory system disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 Rare otorhinolaryngologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020018 obsolete cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020019 obsolete digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020023 obsolete respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020025 obsolete rare male infertility skos:exactMatch Orphanet:98048 Rare male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020026 obsolete rare female infertility skos:exactMatch Orphanet:98049 Rare female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020027 obsolete rare allergic disease skos:exactMatch Orphanet:98050 Rare allergic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020028 obsolete rare allergic respiratory disease skos:exactMatch Orphanet:98052 Rare allergic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020029 obsolete rare genetic cardiac disease skos:exactMatch Orphanet:98054 Rare genetic cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020030 obsolete rare genetic renal disease skos:exactMatch Orphanet:98056 Rare genetic renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020032 obsolete rare urinary tract tumor skos:exactMatch Orphanet:98058 Rare urinary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020033 obsolete rare digestive tumor skos:exactMatch Orphanet:98059 Rare digestive tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020034 obsolete rare respiratory tract neoplasm skos:exactMatch Orphanet:98060 Rare respiratory tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020035 obsolete rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020036 obsolete rare nervous system tumor skos:exactMatch Orphanet:98062 Rare nervous system tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 Rare gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020055 obsolete autosomal uniparental disomy skos:exactMatch Orphanet:98152 Autosomal uniparental disomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020059 obsolete gonosome number anomaly skos:exactMatch Orphanet:98156 Sex-chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020060 obsolete gonosome structural anomaly skos:exactMatch Orphanet:98157 Sex-chromosome structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet:98159 Chromosome X structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020069 obsolete chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020090 obsolete male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020091 obsolete male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020100 obsolete rare hemolytic anemia skos:exactMatch Orphanet:98363 Rare hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020116 obsolete rare blood coagulation disease skos:exactMatch Orphanet:98429 Rare coagulation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020125 obsolete acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 Acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020126 obsolete rare peripheral neuropathy skos:exactMatch Orphanet:98496 Rare peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020130 obsolete malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 Malformation of the cerebellar vermis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020131 obsolete malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020132 obsolete cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020133 obsolete posterior fossa malformation skos:exactMatch Orphanet:98519 Posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020136 obsolete neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 Neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020137 obsolete frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 Frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020138 obsolete ataxia with dementia skos:exactMatch Orphanet:98538 Ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020139 obsolete early-onset ataxia with dementia skos:exactMatch Orphanet:98539 Early-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020140 obsolete late-onset ataxia with dementia skos:exactMatch Orphanet:98540 Late-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020141 obsolete infectious disease with dementia skos:exactMatch Orphanet:98542 Infectious disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020142 obsolete metabolic disease with dementia skos:exactMatch Orphanet:98543 Metabolic disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020144 obsolete cerebrovascular dementia skos:exactMatch Orphanet:98549 Rare cerebrovascular dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020148 obsolete syndromic aniridia skos:exactMatch Orphanet:98557 Syndromic aniridia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020151 obsolete rare palpebral disease skos:exactMatch Orphanet:98560 Rare palpebral disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020152 obsolete rare eyelid malformation skos:exactMatch Orphanet:98561 Congenital malformation of the eyelid semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020154 obsolete microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 Microblepharon-ablephara syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020155 obsolete eyelid border anomaly skos:exactMatch Orphanet:98564 Eyelid border anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020156 obsolete syndromic ankyloblepharon skos:exactMatch Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020157 obsolete syndromic palpebral coloboma skos:exactMatch Orphanet:98566 Syndromic eyelid coloboma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020158 obsolete eyelids malposition disorder skos:exactMatch Orphanet:98567 Rare eyelid malposition disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020162 obsolete secondary ectropion skos:exactMatch Orphanet:98571 Secondary ectropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020165 obsolete syndromic epicanthus skos:exactMatch Orphanet:98574 Syndromic epicanthus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020167 obsolete malposition of external canthus skos:exactMatch Orphanet:98576 Syndromic outer canthal malposition semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly skos:exactMatch Orphanet:98594 Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020192 obsolete rare lacrimal system disease skos:exactMatch Orphanet:98602 Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98605 Lacrimal drainage system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020197 obsolete EEC syndrome and related syndrome skos:exactMatch Orphanet:98609 EEC syndrome and related disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020198 obsolete rare conjunctival disease skos:exactMatch Orphanet:98610 Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020206 obsolete rare refraction anomaly skos:exactMatch Orphanet:98618 Rare refraction anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020209 obsolete rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 Rare hyperopia and astigmatism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020210 obsolete syndromic hyperopia skos:exactMatch Orphanet:98622 Syndromic hyperopia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020211 obsolete syndromic keratoconus skos:exactMatch Orphanet:98623 Syndromic keratoconus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020216 obsolete secondary dysgenetic glaucoma skos:exactMatch Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020219 obsolete corneogoniodysgenesis skos:exactMatch Orphanet:98635 Corneodysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020222 obsolete rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020223 obsolete lens and zonula anomaly skos:exactMatch Orphanet:98639 Rare lens disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020224 obsolete rare cataract skos:exactMatch Orphanet:98640 Rare disorder with lens opacification semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020225 obsolete syndromic cataract skos:exactMatch Orphanet:98641 Syndromic cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020226 obsolete chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 Chromosomal anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020228 obsolete cataract associated with a metabolic disease skos:exactMatch Orphanet:98644 Metabolic disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020230 obsolete renal disease with cataract skos:exactMatch Orphanet:98646 Renal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020232 obsolete musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 Musculoskeletal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020233 obsolete dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 Dentocutaneous disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020234 obsolete craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 Craniofacial anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020235 obsolete lens size anomaly skos:exactMatch Orphanet:98652 Lens size anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020236 obsolete lens position anomaly skos:exactMatch Orphanet:98653 Lens position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020237 obsolete lens shape anomaly skos:exactMatch Orphanet:98655 Lens shape anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020240 obsolete syndromic retinitis pigmentosa skos:exactMatch Orphanet:98661 Syndromic rod-cone dystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020251 obsolete rare strabismus and restriction syndrome skos:exactMatch Orphanet:98681 Rare disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020253 obsolete syndrome with a symptomatic strabismus skos:exactMatch Orphanet:98683 Syndromic disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020254 obsolete craniostenosis associated with a strabismus skos:exactMatch Orphanet:98684 Craniostenosis with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020284 obsolete heart position anomaly skos:exactMatch Orphanet:98716 Heart position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020286 obsolete aortic malformation skos:exactMatch Orphanet:98718 Aortic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020288 obsolete atrioventricular valve anomaly skos:exactMatch Orphanet:98720 Atrioventricular valve anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020293 obsolete ascending aorta anomaly skos:exactMatch Orphanet:98725 Ascending aorta anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020294 obsolete atrial defect and interatrial communication skos:exactMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020339 obsolete X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 X-linked complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020343 obsolete alpha-crystallinopathy skos:exactMatch Orphanet:98910 Alpha-crystallinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021027 obsolete genetic hair anomaly skos:exactMatch Orphanet:183450 Genetic hair anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021028 obsolete genetic nail anomaly skos:exactMatch Orphanet:183454 Genetic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021034 obsolete hereditary alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022409 obsolete nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 Renal ciliopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024471 obsolete non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 Non-inflammatory vasculopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024987 obsolete genetic urogenital tract malformation skos:exactMatch Orphanet:156622 Genetic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0025511 obsolete inherited neuroendocrine tumor skos:exactMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026141 obsolete genetic urticaria skos:exactMatch Orphanet:182734 Genetic urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026150 obsolete genetic erythrokeratoderma skos:exactMatch Orphanet:183438 Genetic erythrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026151 obsolete genetic acrokeratoderma skos:exactMatch Orphanet:183441 Genetic acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026152 obsolete genetic porokeratosis skos:exactMatch Orphanet:183444 Genetic porokeratosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026157 obsolete genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026160 obsolete genetic dermis disorder skos:exactMatch Orphanet:183472 Genetic dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026166 obsolete genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026167 obsolete genetic neuromuscular disease skos:exactMatch Orphanet:183497 Genetic neuromuscular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026170 obsolete genetic central nervous system malformation skos:exactMatch Orphanet:183506 Genetic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026173 obsolete rare genetic medullar disease skos:exactMatch Orphanet:183515 Rare genetic medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026180 obsolete genetic congenital limb malformation skos:exactMatch Orphanet:183536 Genetic congenital limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026181 obsolete genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 Genetic renal or urinary tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026182 obsolete genetic cranial malformation skos:exactMatch Orphanet:183542 Genetic cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026183 obsolete genetic digestive tract malformation skos:exactMatch Orphanet:183545 Genetic digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026185 obsolete genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026186 obsolete genetic developmental defect of the eye skos:exactMatch Orphanet:183557 Genetic developmental defect of the eye semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026187 obsolete genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 Genetic malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026188 obsolete genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026192 obsolete genetic glomerular disease skos:exactMatch Orphanet:183586 Genetic glomerular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026193 obsolete genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 Genetic thrombotic microangiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026203 obsolete genetic respiratory malformation skos:exactMatch Orphanet:183622 Genetic respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026209 obsolete genetic polyendocrinopathy skos:exactMatch Orphanet:183643 Genetic polyendocrinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027652 5-fluorouracil toxicity skos:exactMatch Orphanet:240839 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027653 abacavir toxicity skos:exactMatch Orphanet:240841 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027655 allopurinol toxicity skos:exactMatch Orphanet:240845 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027664 cisplatin toxicity skos:exactMatch Orphanet:240863 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027666 codeine toxicity skos:exactMatch Orphanet:240867 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027667 efavirenz toxicity skos:exactMatch Orphanet:240869 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027668 flucloxacilline toxicity skos:exactMatch Orphanet:240871 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027675 irinotecan toxicity skos:exactMatch Orphanet:240885 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027677 isoniazid toxicity skos:exactMatch Orphanet:240887 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027687 raltegravir toxicity skos:exactMatch Orphanet:240905 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027696 voriconazole toxicity skos:exactMatch Orphanet:240921 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027751 obsolete serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 Serpinopathy with loss of serpin function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027929 obsolete genetic polycythemia skos:exactMatch Orphanet:250165 Genetic polycythemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028569 obsolete genetic interstitial lung disease skos:exactMatch Orphanet:264992 Genetic interstitial lung disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch Orphanet:498345 Biliary atresia and associated disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 Laminopathy with striated muscle involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031016 obsolete genetic disorder of sex development skos:exactMatch Orphanet:325690 Genetic difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031689 obsolete genetic progeroid syndrome skos:exactMatch Orphanet:363245 Genetic progeroid syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031697 obsolete genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031949 obsolete genetic neurovascular malformation skos:exactMatch Orphanet:371436 Genetic neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031952 obsolete genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 Genetic syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032011 obsolete biological anomaly skos:exactMatch Orphanet:377790 Biological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032013 obsolete clinical syndrome skos:exactMatch Orphanet:377792 Clinical syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032014 obsolete particular clinical situation in a disease or syndrome skos:exactMatch Orphanet:377793 Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033056 obsolete genetic facial cleft skos:exactMatch Orphanet:414726 Genetic facial cleft semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033169 curariform drugs toxicity skos:exactMatch Orphanet:413693 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033170 statin toxicity skos:exactMatch Orphanet:413696 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033181 phenytoin or carbamazepine toxicity skos:exactMatch Orphanet:414750 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033329 obsolete genetic precocious puberty skos:exactMatch Orphanet:435554 Genetic precocious puberty semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033331 obsolete genetic precocious puberty in female skos:exactMatch Orphanet:435564 Genetic precocious puberty in female semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033334 obsolete genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 Genetic nose and cavum anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033335 obsolete genetic larynx anomaly skos:exactMatch Orphanet:435609 Genetic larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033336 obsolete genetic tracheal anomaly skos:exactMatch Orphanet:435612 Genetic tracheal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034039 obsolete genetic hemoglobinopathy skos:exactMatch Orphanet:466066 Genetic hemoglobinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034443 obsolete genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 Genetic premature ovarian failure semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034661 obsolete syndromic biliary atresia skos:exactMatch Orphanet:498350 Syndromic biliary atresia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034667 obsolete longitudinal limb defect skos:exactMatch Orphanet:498457 Longitudinal limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034668 obsolete terminal transverse limb defect skos:exactMatch Orphanet:498461 Terminal transverse limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034669 obsolete non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034670 obsolete non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034671 obsolete non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034733 obsolete cochlear nerve deficiency skos:exactMatch Orphanet:502318 Cochlear nerve deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034901 obsolete ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 ATP13A2-related parkinsonism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034926 obsolete rare disorder with entropion skos:exactMatch Orphanet:519270 Rare disorder with entropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034931 obsolete rare conjunctivitis skos:exactMatch Orphanet:519280 Rare conjunctivitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034937 obsolete syndromic ectopia lentis skos:exactMatch Orphanet:519292 Syndromic ectopia lentis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034943 obsolete isolated vitreoretinopathy skos:exactMatch Orphanet:519304 Isolated vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034953 obsolete syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 Syndromic inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034954 obsolete syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 Syndromic vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034968 obsolete rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 Rare ocular motility/alignment disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch Orphanet:519396 Isolated microspherophakia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035001 obsolete rare disorder of the visual organs skos:exactMatch Orphanet:520814 Rare disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035002 obsolete isolated inherited retinal disorder skos:exactMatch Orphanet:520817 Isolated inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035013 obsolete genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 Genetic primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035014 obsolete primary orthostatic disorder skos:exactMatch Orphanet:521236 Primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035037 obsolete rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 Rare genetic disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035274 obsolete anomaly of the coronary ostia skos:exactMatch Orphanet:542822 Anomaly of the coronary ostia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035328 obsolete rare disorder due to poisoning skos:exactMatch Orphanet:556508 Rare disorder due to poisoning semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035561 obsolete sporadic human prion disease skos:exactMatch Orphanet:576356 Sporadic human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035786 obsolete non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 Non-syndromic cloacal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574671 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0037860 obsolete rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 Rare systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0038268 obsolete autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 Autoimmune neurological channelopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044636 obsolete rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 Rare hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800084 obsolete primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800087 obsolete type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800090 obsolete ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957001 obsolete hereditary mixed dermis disorder skos:exactMatch Orphanet:183481 Genetic mixed dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957024 obsolete hereditary 46,XX disorder of sex development skos:exactMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957025 obsolete hereditary 46,XY disorder of sex development skos:exactMatch Orphanet:325706 Genetic 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 Morphological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv index da798e1b..ef1a65e8 100644 --- a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv @@ -640,7 +640,6 @@ MONDO:0006748 epilepsia partialis continua ICD10CM:G40.1 MONDO:equivalentTo Loca MONDO:0006783 hemopneumothorax ICD10CM:J94.2 MONDO:equivalentTo Hemothorax semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemopneumothorax MONDO:0006786 hepatic vein thrombosis ICD10CM:I82.0 MONDO:equivalentTo Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatic vein thrombosis MONDO:0006786 hepatic vein thrombosis ICD10CM:I82.0 MONDO:equivalentTo Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatic vein thrombosis -MONDO:0006788 hydrophthalmos ICD10CM:Q15.0 MONDO:equivalentTo Congenital glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydrophthalmos MONDO:0006802 inappropriate ADH syndrome ICD10CM:E22.2 MONDO:equivalentTo Syndrome of inappropriate secretion of antidiuretic hormone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndrome of inappropriate secretion of antidiuretic hormone MONDO:0006807 intestinal perforation ICD10CM:K63.1 MONDO:equivalentTo Perforation of intestine (nontraumatic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perforation of intestine MONDO:0006815 jejunal cancer ICD10CM:C17.1 MONDO:equivalentTo Malignant neoplasm of jejunum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of jejunum diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv index 974be5bc..9338709e 100644 --- a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv @@ -2227,7 +2227,6 @@ MONDO:0006767 gastric antral vascular ectasia icd11.foundation:567969001 MONDO:e MONDO:0006770 giant cell reparative granuloma icd11.foundation:1844801204 MONDO:equivalentTo Giant cell granuloma, central semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central giant cell reparative granuloma of jaw MONDO:0006779 heart aneurysm icd11.foundation:1571863865 MONDO:equivalentTo Aneurysm of heart semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiac aneurysm MONDO:0006779 heart aneurysm icd11.foundation:1571863865 MONDO:equivalentTo Aneurysm of heart semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heart aneurysm -MONDO:0006788 hydrophthalmos icd11.foundation:2064760868 MONDO:equivalentTo Developmental glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydrophthalmos MONDO:0006790 hypercementosis icd11.foundation:509666116 MONDO:equivalentTo Cementum hyperplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cementation hyperplasia MONDO:0006790 hypercementosis icd11.foundation:509666116 MONDO:equivalentTo Cementum hyperplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypercementosis MONDO:0006793 hyperpituitarism icd11.foundation:1950330641 MONDO:equivalentTo Hyperfunction of pituitary gland semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperpituitarism @@ -4830,6 +4829,7 @@ MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy icd11.foun MONDO:0020365 congenital hereditary endothelial dystrophy type I icd11.foundation:1580987262 MONDO:equivalentTo Congenital hereditary endothelial dystrophy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital hereditary endothelial dystrophy type 1 MONDO:0020366 congenital glaucoma icd11.foundation:1106186590 MONDO:equivalentTo Buphthalmos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmia MONDO:0020366 congenital glaucoma icd11.foundation:1106186590 MONDO:equivalentTo Buphthalmos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label buphthalmos +MONDO:0020366 congenital glaucoma icd11.foundation:2064760868 MONDO:equivalentTo Developmental glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydrophthalmos MONDO:0020367 juvenile open angle glaucoma icd11.foundation:2064760868 MONDO:equivalentTo Developmental glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile glaucoma MONDO:0020369 Chandler syndrome icd11.foundation:677984188 MONDO:equivalentTo Endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystrophy of corneal endothelium MONDO:0020369 Chandler syndrome icd11.foundation:677984188 MONDO:equivalentTo Endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endothelial corneal dystrophy diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index b7ad6018..cc2e09a8 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 11, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index 49363b15..6b277c4f 100644 --- a/src/ontology/metadata/gard-metrics.json +++ b/src/ontology/metadata/gard-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/gard.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/gard.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json index 7716ce03..5882184f 100644 --- a/src/ontology/metadata/icd10cm-metrics.json +++ b/src/ontology/metadata/icd10cm-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/icd10cm.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json index a3313c39..1378c80d 100644 --- a/src/ontology/metadata/icd10who-metrics.json +++ b/src/ontology/metadata/icd10who-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd11foundation-metrics.json b/src/ontology/metadata/icd11foundation-metrics.json index 83cda944..1d78146e 100644 --- a/src/ontology/metadata/icd11foundation-metrics.json +++ b/src/ontology/metadata/icd11foundation-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/icd11foundation.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/icd11foundation.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index 6ef8b89a..3f2210c6 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/ncit.owl", "owl2": true, "owl2_dl": true, "owl2_el": false, diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json index 8c0b8631..6443afa2 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 7, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index fd53e166..32e32059 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 4, "ontology_anno_count": 12, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-18/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index 7a5e2550..21c44787 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -1394,7 +1394,6 @@ MONDO:0009274 ghosal hematodiaphyseal dysplasia MONDO:0002254 DOID:0112251 DOID: MONDO:0009274 ghosal hematodiaphyseal dysplasia MONDO:0006025 DOID:0112251 DOID:0050737 autosomal recessive disease MONDO:0009276 Bernard-Soulier syndrome MONDO:0001531 DOID:2217 DOID:1247 blood coagulation disease MONDO:0009276 Bernard-Soulier syndrome MONDO:0006025 DOID:2217 DOID:0050737 autosomal recessive disease -MONDO:0009277 glaucoma 3A MONDO:0006788 DOID:11211 DOID:11212 hydrophthalmos MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:0006025 DOID:0111254 DOID:0050737 autosomal recessive disease MONDO:0009283 glutaric acidemia type 3 MONDO:0006025 DOID:0112246 DOID:0050737 autosomal recessive disease MONDO:0009283 glutaric acidemia type 3 MONDO:0019053 DOID:0112246 DOID:906 peroxisomal disease @@ -3564,6 +3563,7 @@ MONDO:0020310 familial focal epilepsy with variable foci MONDO:0000426 DOID:0081 MONDO:0020322 acute biphenotypic leukemia MONDO:0015760 DOID:9953 DOID:0081312 T-cell non-Hodgkin lymphoma MONDO:0020323 primary mediastinal large B-cell lymphoma MONDO:0968974 DOID:0080210 DOID:0081452 large B-cell lymphoma MONDO:0020324 intravascular large B-cell lymphoma MONDO:0968974 DOID:0081311 DOID:0081452 large B-cell lymphoma +MONDO:0020366 congenital glaucoma MONDO:0000365 DOID:11212 DOID:0050593 primary congenital glaucoma MONDO:0020367 juvenile open angle glaucoma MONDO:0000426 DOID:1068 DOID:0050736 autosomal dominant disease MONDO:0020370 Cogan-Reese syndrome MONDO:0005328 DOID:0060217 DOID:5614 eye disorder MONDO:0020478 Leber plus disease MONDO:0002254 DOID:0111754 DOID:225 syndromic disease diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index d57659dd..0d37f8dc 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -4008,7 +4008,6 @@ MONDO:0006779 heart aneurysm MONDO:0005267 DOID:9768 DOID:114 heart disorder MONDO:0006782 hemometra MONDO:0002654 DOID:9958 DOID:345 uterine disorder MONDO:0006783 hemopneumothorax MONDO:0002076 DOID:2718 DOID:1673 pneumothorax MONDO:0006786 hepatic vein thrombosis MONDO:0002405 DOID:11512 DOID:272 hepatic vascular disorder -MONDO:0006788 hydrophthalmos MONDO:0000365 DOID:11212 DOID:0050593 primary congenital glaucoma MONDO:0006790 hypercementosis MONDO:0002220 DOID:12733 DOID:214 tooth hard tissue disease MONDO:0006792 hyperglobulinemic purpura MONDO:0002610 DOID:3325 DOID:3326 purpura MONDO:0006795 hypersplenism MONDO:0002332 DOID:6376 DOID:2529 splenic disorder diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index 9d043c44..00c120a6 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -43780,18 +43780,43 @@ + + + + + + + + + + + + + + + + + + + + + + + + + @@ -44886,6 +44911,171 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -45029,6 +45219,7 @@ + @@ -46350,11 +46541,13 @@ + + @@ -46557,6 +46750,7 @@ + @@ -46677,6 +46871,7 @@ + @@ -46773,6 +46968,8 @@ + + @@ -46839,6 +47036,7 @@ + diff --git a/src/ontology/reports/ncit.subclass.confirmed.robot.tsv b/src/ontology/reports/ncit.subclass.confirmed.robot.tsv index 96b77c1b..4517cc2e 100644 --- a/src/ontology/reports/ncit.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ncit.subclass.confirmed.robot.tsv @@ -3959,7 +3959,6 @@ MONDO:0700145 canine lymphoma MONDO:0700139 NCIT:C128121 NCIT:C134526 canine neo MONDO:0700147 canine histiocytic sarcoma MONDO:0700139 NCIT:C128125 NCIT:C134526 canine neoplasm MONDO:0700148 canine transitional cell carcinoma MONDO:0700139 NCIT:C128126 NCIT:C134526 canine neoplasm MONDO:0700149 canine sarcoma MONDO:0700139 NCIT:C128195 NCIT:C134526 canine neoplasm -MONDO:0700150 canine mastocytoma MONDO:0700139 NCIT:C129077 NCIT:C134526 canine neoplasm MONDO:0700151 canine glioma MONDO:0700139 NCIT:C129297 NCIT:C134526 canine neoplasm MONDO:0700152 canine hepatocellular carcinoma MONDO:0700139 NCIT:C129298 NCIT:C134526 canine neoplasm MONDO:0700153 canine lung adenocarcinoma MONDO:0700139 NCIT:C129299 NCIT:C134526 canine neoplasm diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index 9c337c6c..4ff0a46e 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -3782,6 +3782,21 @@ MONDO:0970994 immunodeficiency 120 MONDO:0021094 OMIM:620836 OMIMPS:300755 immun MONDO:0970995 premature ovarian failure 24 MONDO:0019852 OMIM:620840 OMIMPS:311360 inherited primary ovarian failure MONDO:0970999 spermatogenic failure 92 MONDO:0004983 OMIM:620848 OMIMPS:258150 spermatogenic failure MONDO:0971000 spermatogenic failure 93 MONDO:0004983 OMIM:620849 OMIMPS:258150 spermatogenic failure +MONDO:0971001 immunodeficiency 121 with autoinflammation MONDO:0021094 OMIM:620807 OMIMPS:300755 immunodeficiency disease +MONDO:0971002 spermatogenic failure 94 MONDO:0004983 OMIM:620850 OMIMPS:258150 spermatogenic failure +MONDO:0971004 amyloidosis, hereditary systemic 1 MONDO:0007100 OMIM:105210 OMIMPS:105210 familial amyloid neuropathy +MONDO:0971005 MHC class II deficiency 1 MONDO:0008855 OMIM:209920 OMIMPS:209920 MHC class II deficiency +MONDO:0971006 MHC class I deficiency 1 MONDO:0011476 OMIM:604571 OMIMPS:604571 MHC class I deficiency +MONDO:0971007 neuroocular syndrome 1 MONDO:0859193 OMIM:619539 OMIMPS:619539 neuroocular syndrome +MONDO:0971008 amyloidosis, hereditary systemic 3 MONDO:0007100 OMIM:620657 OMIMPS:105210 familial amyloid neuropathy +MONDO:0971009 amyloidosis, hereditary systemic 5 MONDO:0007100 OMIM:620658 OMIMPS:105210 familial amyloid neuropathy +MONDO:0971010 amyloidosis, hereditary systemic 6 MONDO:0007100 OMIM:620659 OMIMPS:105210 familial amyloid neuropathy +MONDO:0971011 MHC class I deficiency 2 MONDO:0011476 OMIM:620813 OMIMPS:604571 MHC class I deficiency +MONDO:0971012 MHC class I deficiency 3 MONDO:0011476 OMIM:620814 OMIMPS:604571 MHC class I deficiency +MONDO:0971013 MHC class II deficiency 2 MONDO:0008855 OMIM:620815 OMIMPS:209920 MHC class II deficiency +MONDO:0971014 MHC class II deficiency 3 MONDO:0008855 OMIM:620816 OMIMPS:209920 MHC class II deficiency +MONDO:0971015 MHC class II deficiency 4 MONDO:0008855 OMIM:620817 OMIMPS:209920 MHC class II deficiency +MONDO:0971016 MHC class II deficiency 5 MONDO:0008855 OMIM:620818 OMIMPS:209920 MHC class II deficiency MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index 0504c003..fe873ddf 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,19 +1,4 @@ subject_id subject_label is_mapped is_excluded is_deprecated -OMIM:105210 amyloidosis, hereditary systemic 1 False False False -OMIM:209920 mhc class 2 deficiency 1 False False False -OMIM:604571 mhc class 1 deficiency 1 False False False -OMIM:619539 neuroocular syndrome 1 False False False -OMIM:620657 amyloidosis, hereditary systemic 3 False False False -OMIM:620658 amyloidosis, hereditary systemic 5 False False False -OMIM:620659 amyloidosis, hereditary systemic 6 False False False -OMIM:620807 immunodeficiency 121 with autoinflammation False False False -OMIM:620813 mhc class 1 deficiency 2 False False False -OMIM:620814 mhc class 1 deficiency 3 False False False -OMIM:620815 mhc class 2 deficiency 2 False False False -OMIM:620816 mhc class 2 deficiency 3 False False False -OMIM:620817 mhc class 2 deficiency 4 False False False -OMIM:620818 mhc class 2 deficiency 5 False False False -OMIM:620850 spermatogenic failure 94 False False False OMIM:100500 False False True OMIM:100680 False False True OMIM:100735 False False True @@ -19027,6 +19012,7 @@ OMIM:104570 ameloonychohypohidrotic syndrome True False False OMIM:105120 amyloidosis, finnish type True False False OMIM:105150 cerebral amyloid angiopathy, cst3-related True False False OMIM:105200 amyloidosis, hereditary systemic 2 True False False +OMIM:105210 amyloidosis, hereditary systemic 1 True False False OMIM:105250 amyloidosis, primary localized cutaneous, 1 True False False OMIM:105400 amyotrophic lateral sclerosis 1 True False False OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 True False False @@ -20143,6 +20129,7 @@ OMIM:209850 autism True False False OMIM:209880 central hypoventilation syndrome, congenital, 1 True False False OMIM:209885 barber-say syndrome True False False OMIM:209900 bardet-biedl syndrome 1 True False False +OMIM:209920 mhc class 2 deficiency 1 True False False OMIM:209950 immunodeficiency 27a True False False OMIM:210000 behr syndrome True False False OMIM:210100 beta-aminoisobutyric aciduria True False False @@ -22016,6 +22003,7 @@ OMIM:604536 ectodermal dysplasia/skin fragility syndrome True False False OMIM:604537 leber congenital amaurosis 5 True False False OMIM:604559 progressive familial heart block, type 1b True False False OMIM:604563 charcot-marie-tooth disease, type 4b2 True False False +OMIM:604571 mhc class 1 deficiency 1 True False False OMIM:604625 tooth agenesis, selective, 3 True False False OMIM:604715 orthostatic intolerance True False False OMIM:604717 deafness, autosomal dominant 20 True False False @@ -26511,6 +26499,7 @@ OMIM:619528 spermatogenic failure 57 True False False OMIM:619531 cone-rod dystrophy 22 True False False OMIM:619534 biliary, renal, neurologic, and skeletal syndrome True False False OMIM:619538 cerebral cavernous malformations 4 True False False +OMIM:619539 neuroocular syndrome 1 True False False OMIM:619542 king-denborough syndrome True False False OMIM:619543 boudin-mortier syndrome True False False OMIM:619548 usmani-riazuddin syndrome, autosomal recessive True False False @@ -27037,6 +27026,9 @@ OMIM:620651 diabetes, deafness, developmental delay, and short stature syndrome OMIM:620653 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly True False False OMIM:620654 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies True False False OMIM:620655 alfadhel syndrome True False False +OMIM:620657 amyloidosis, hereditary systemic 3 True False False +OMIM:620658 amyloidosis, hereditary systemic 5 True False False +OMIM:620659 amyloidosis, hereditary systemic 6 True False False OMIM:620662 hoxha-aliu syndrome True False False OMIM:620663 spondyloepimetaphyseal dysplasia, guo-campeau type True False False OMIM:620666 spastic ataxia 10, autosomal recessive True False False @@ -27106,6 +27098,13 @@ OMIM:620794 deafness, autosomal recessive 124 True False False OMIM:620795 autoinflammation with episodic fever and immune dysregulation True False False OMIM:620796 proteasome-associated autoinflammatory syndrome 6 True False False OMIM:620806 developmental and epileptic encephalopathy 116 True False False +OMIM:620807 immunodeficiency 121 with autoinflammation True False False +OMIM:620813 mhc class 1 deficiency 2 True False False +OMIM:620814 mhc class 1 deficiency 3 True False False +OMIM:620815 mhc class 2 deficiency 2 True False False +OMIM:620816 mhc class 2 deficiency 3 True False False +OMIM:620817 mhc class 2 deficiency 4 True False False +OMIM:620818 mhc class 2 deficiency 5 True False False OMIM:620819 rothmund-thomson syndrome, type 4 True False False OMIM:620820 el hayek-chahrour neurodevelopmental syndrome True False False OMIM:620825 immunodeficiency 119 True False False @@ -27115,6 +27114,7 @@ OMIM:620838 spermatogenic failure 91 True False False OMIM:620840 premature ovarian failure 24 True False False OMIM:620848 spermatogenic failure 92 True False False OMIM:620849 spermatogenic failure 93 True False False +OMIM:620850 spermatogenic failure 94 True False False OMIMPS:100070 Aortic aneurysm, familial abdominal True False False OMIMPS:100300 Adams-Oliver syndrome True False False OMIMPS:101800 Acrodysostosis True False False diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 32411e1a..a6ed787a 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -1,16 +1 @@ subject_id subject_label -OMIM:105210 amyloidosis, hereditary systemic 1 -OMIM:620657 amyloidosis, hereditary systemic 3 -OMIM:620658 amyloidosis, hereditary systemic 5 -OMIM:620659 amyloidosis, hereditary systemic 6 -OMIM:620807 immunodeficiency 121 with autoinflammation -OMIM:604571 mhc class 1 deficiency 1 -OMIM:620813 mhc class 1 deficiency 2 -OMIM:620814 mhc class 1 deficiency 3 -OMIM:209920 mhc class 2 deficiency 1 -OMIM:620815 mhc class 2 deficiency 2 -OMIM:620816 mhc class 2 deficiency 3 -OMIM:620817 mhc class 2 deficiency 4 -OMIM:620818 mhc class 2 deficiency 5 -OMIM:619539 neuroocular syndrome 1 -OMIM:620850 spermatogenic failure 94 diff --git a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv index 0f28a118..8be7f809 100644 --- a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv @@ -13633,6 +13633,16 @@ MONDO:0968959 isolated arhinencephaly MONDO:8000030 Orphanet:268936 Orphanet:377 MONDO:0968986 chaotic conus spinal cord lipoma MONDO:8000030 Orphanet:645285 Orphanet:377791 obsolete morphological anomaly MONDO:0968987 extramedullary conus spinal cord lipoma MONDO:8000030 Orphanet:645297 Orphanet:377791 obsolete morphological anomaly MONDO:0968989 non-saccular limited dorsal myeloschisis MONDO:8000030 Orphanet:645343 Orphanet:377791 obsolete morphological anomaly +MONDO:0968990 genetic central precocious puberty in male MONDO:8000031 Orphanet:650097 Orphanet:557494 obsolete subtype of a disorder +MONDO:0968991 non-genetic central precocious puberty in male MONDO:8000031 Orphanet:650102 Orphanet:557494 obsolete subtype of a disorder +MONDO:0970957 terminal extramedullary conus spinal cord lipoma MONDO:8000031 Orphanet:645288 Orphanet:557494 obsolete subtype of a disorder +MONDO:0970958 transitional extramedullary conus spinal cord lipoma MONDO:8000031 Orphanet:645291 Orphanet:557494 obsolete subtype of a disorder +MONDO:0970959 posterior extramedullary conus spinal cord lipoma MONDO:8000031 Orphanet:645294 Orphanet:557494 obsolete subtype of a disorder +MONDO:0970960 lipomatous non-saccular limited dorsal myeloschisis MONDO:8000031 Orphanet:645300 Orphanet:557494 obsolete subtype of a disorder +MONDO:0970961 fibroneural non-saccular limited dorsal myeloschisis MONDO:8000031 Orphanet:645310 Orphanet:557494 obsolete subtype of a disorder +MONDO:0970962 terminal myelocystocele MONDO:8000030 Orphanet:645337 Orphanet:377791 obsolete morphological anomaly +MONDO:0970963 saccular limited dorsal myeloschisis MONDO:8000030 Orphanet:645354 Orphanet:377791 obsolete morphological anomaly +MONDO:0970964 myelic limited dorsal malformation MONDO:8000030 Orphanet:645378 Orphanet:377791 obsolete morphological anomaly MONDO:8000006 WHIM syndrome 1 MONDO:0018032 Orphanet:51636 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations MONDO:8000006 WHIM syndrome 1 MONDO:0018033 Orphanet:51636 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity MONDO:8000008 Martsolf syndrome 1 MONDO:0015890 Orphanet:1387 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism diff --git a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv index bb5168e3..f6853f1d 100644 --- a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv @@ -4761,5 +4761,16 @@ MONDO:0968987 extramedullary conus spinal cord lipoma MONDO:0958350 Orphanet:645 MONDO:0968988 saccular spinal dysraphism with a stalk to the dome MONDO:0017069 Orphanet:645319 Orphanet:268744 spina bifida cystica MONDO:0968988 saccular spinal dysraphism with a stalk to the dome MONDO:0958345 Orphanet:645319 Orphanet:645196 limited dorsal myeloschisis MONDO:0968989 non-saccular limited dorsal myeloschisis MONDO:0958345 Orphanet:645343 Orphanet:645196 limited dorsal myeloschisis +MONDO:0968990 genetic central precocious puberty in male MONDO:0958356 Orphanet:650097 Orphanet:650087 primary central precocious puberty in male +MONDO:0968991 non-genetic central precocious puberty in male MONDO:0958356 Orphanet:650102 Orphanet:650087 primary central precocious puberty in male +MONDO:0970957 terminal extramedullary conus spinal cord lipoma MONDO:0968987 Orphanet:645288 Orphanet:645297 extramedullary conus spinal cord lipoma +MONDO:0970958 transitional extramedullary conus spinal cord lipoma MONDO:0968987 Orphanet:645291 Orphanet:645297 extramedullary conus spinal cord lipoma +MONDO:0970959 posterior extramedullary conus spinal cord lipoma MONDO:0968987 Orphanet:645294 Orphanet:645297 extramedullary conus spinal cord lipoma +MONDO:0970960 lipomatous non-saccular limited dorsal myeloschisis MONDO:0968989 Orphanet:645300 Orphanet:645343 non-saccular limited dorsal myeloschisis +MONDO:0970961 fibroneural non-saccular limited dorsal myeloschisis MONDO:0968989 Orphanet:645310 Orphanet:645343 non-saccular limited dorsal myeloschisis +MONDO:0970962 terminal myelocystocele MONDO:0017077 Orphanet:645337 Orphanet:268813 myelocystocele +MONDO:0970962 terminal myelocystocele MONDO:0968988 Orphanet:645337 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome +MONDO:0970963 saccular limited dorsal myeloschisis MONDO:0968988 Orphanet:645354 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome +MONDO:0970964 myelic limited dorsal malformation MONDO:0968988 Orphanet:645378 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome MONDO:8000008 Martsolf syndrome 1 MONDO:0015159 Orphanet:1387 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0017574 Orphanet:99811 Orphanet:2978 chronic intestinal pseudoobstruction diff --git a/src/ontology/reports/ordo_mapping_status.tsv b/src/ontology/reports/ordo_mapping_status.tsv index a754fa27..82899966 100644 --- a/src/ontology/reports/ordo_mapping_status.tsv +++ b/src/ontology/reports/ordo_mapping_status.tsv @@ -38,16 +38,6 @@ Orphanet:409979 <1 / 1 000 000 False False False Orphanet:409980 >1 / 1000 False False False Orphanet:409981 Unknown_epidemiological_range False False False Orphanet:557495 category False False False -Orphanet:645288 Terminal extramedullary conus spinal cord lipoma False False False -Orphanet:645291 Transitional extramedullary conus spinal cord lipoma False False False -Orphanet:645294 Posterior extramedullary conus spinal cord lipoma False False False -Orphanet:645300 Lipomatous non-saccular limited dorsal myeloschisis False False False -Orphanet:645310 Fibroneural non-saccular limited dorsal myeloschisis False False False -Orphanet:645337 Terminal myelocystocele False False False -Orphanet:645354 Saccular limited dorsal myeloschisis False False False -Orphanet:645378 Myelic limited dorsal malformation False False False -Orphanet:650097 Genetic central precocious puberty in male False False False -Orphanet:650102 Non-genetic central precocious puberty in male False False False Orphanet:C003 epidemiology False False False Orphanet:C004 prevalence False False False Orphanet:C005 inheritance False False False @@ -12614,17 +12604,25 @@ Orphanet:645202 Closed spinal dysraphism True False False Orphanet:645273 Dysraphic spinal cord lipoma True False False Orphanet:645276 Spinal cord lipoma True False False Orphanet:645285 Chaotic conus spinal cord lipoma True False False +Orphanet:645288 Terminal extramedullary conus spinal cord lipoma True False False +Orphanet:645291 Transitional extramedullary conus spinal cord lipoma True False False +Orphanet:645294 Posterior extramedullary conus spinal cord lipoma True False False Orphanet:645297 Extramedullary conus spinal cord lipoma True False False +Orphanet:645300 Lipomatous non-saccular limited dorsal myeloschisis True False False +Orphanet:645310 Fibroneural non-saccular limited dorsal myeloschisis True False False Orphanet:645319 Saccular spinal dysraphism with a stalk to the dome True False False Orphanet:645322 Isolated transitional filum lipoma True False False Orphanet:645325 Isolated filum lipoma True False False Orphanet:645334 Retained medullary cord True False False +Orphanet:645337 Terminal myelocystocele True False False Orphanet:645340 Non-terminal myelocystocele True False False Orphanet:645343 Non-saccular limited dorsal myeloschisis True False False Orphanet:645350 Segmental arterial mediolysis True False False +Orphanet:645354 Saccular limited dorsal myeloschisis True False False Orphanet:645359 Intramedullary non-dysraphic spinal cord lipoma True False False Orphanet:645362 Dorsal spinal cord lipoma True False False Orphanet:645367 Conus spinal cord lipoma True False False +Orphanet:645378 Myelic limited dorsal malformation True False False Orphanet:645383 True myelomeningocele True False False Orphanet:645388 Hemi-myelomeningocele True False False Orphanet:645393 Hemi-myeloschisis True False False @@ -12707,6 +12705,8 @@ Orphanet:650077 Genetic central precocious puberty in female True False False Orphanet:650082 Secondary central precocious puberty in female True False False Orphanet:650087 Primary central precocious puberty in male True False False Orphanet:650092 Secondary central precocious puberty in male True False False +Orphanet:650097 Genetic central precocious puberty in male True False False +Orphanet:650102 Non-genetic central precocious puberty in male True False False Orphanet:652 Multiple endocrine neoplasia type 1 True False False Orphanet:652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome True False False Orphanet:65250 Perineural cyst True False False diff --git a/src/ontology/reports/ordo_unmapped_terms.tsv b/src/ontology/reports/ordo_unmapped_terms.tsv index a7d221ff..8f784fdb 100644 --- a/src/ontology/reports/ordo_unmapped_terms.tsv +++ b/src/ontology/reports/ordo_unmapped_terms.tsv @@ -5,16 +5,6 @@ Orphanet:409977 1-9 / 100 000 Orphanet:409978 6-9 / 10 000 Orphanet:409979 <1 / 1 000 000 Orphanet:409980 >1 / 1000 -Orphanet:645310 Fibroneural non-saccular limited dorsal myeloschisis -Orphanet:650097 Genetic central precocious puberty in male -Orphanet:645300 Lipomatous non-saccular limited dorsal myeloschisis -Orphanet:645378 Myelic limited dorsal malformation -Orphanet:650102 Non-genetic central precocious puberty in male -Orphanet:645294 Posterior extramedullary conus spinal cord lipoma -Orphanet:645354 Saccular limited dorsal myeloschisis -Orphanet:645288 Terminal extramedullary conus spinal cord lipoma -Orphanet:645337 Terminal myelocystocele -Orphanet:645291 Transitional extramedullary conus spinal cord lipoma Orphanet:409981 Unknown_epidemiological_range Orphanet:409934 X-linked dominant Orphanet:409932 X-linked recessive diff --git a/src/ontology/reports/sync-subClassOf.confirmed.tsv b/src/ontology/reports/sync-subClassOf.confirmed.tsv index 07954513..e45ada6b 100644 --- a/src/ontology/reports/sync-subClassOf.confirmed.tsv +++ b/src/ontology/reports/sync-subClassOf.confirmed.tsv @@ -4008,7 +4008,6 @@ MONDO:0006779 heart aneurysm MONDO:0005267 DOID:9768 DOID:114 heart disorder MONDO:0006782 hemometra MONDO:0002654 DOID:9958 DOID:345 uterine disorder MONDO:0006783 hemopneumothorax MONDO:0002076 DOID:2718 DOID:1673 pneumothorax MONDO:0006786 hepatic vein thrombosis MONDO:0002405 DOID:11512 DOID:272 hepatic vascular disorder -MONDO:0006788 hydrophthalmos MONDO:0000365 DOID:11212 DOID:0050593 primary congenital glaucoma MONDO:0006790 hypercementosis MONDO:0002220 DOID:12733 DOID:214 tooth hard tissue disease MONDO:0006792 hyperglobulinemic purpura MONDO:0002610 DOID:3325 DOID:3326 purpura MONDO:0006795 hypersplenism MONDO:0002332 DOID:6376 DOID:2529 splenic disorder @@ -12212,7 +12211,6 @@ MONDO:0700145 canine lymphoma MONDO:0700139 NCIT:C128121 NCIT:C134526 canine neo MONDO:0700147 canine histiocytic sarcoma MONDO:0700139 NCIT:C128125 NCIT:C134526 canine neoplasm MONDO:0700148 canine transitional cell carcinoma MONDO:0700139 NCIT:C128126 NCIT:C134526 canine neoplasm MONDO:0700149 canine sarcoma MONDO:0700139 NCIT:C128195 NCIT:C134526 canine neoplasm -MONDO:0700150 canine mastocytoma MONDO:0700139 NCIT:C129077 NCIT:C134526 canine neoplasm MONDO:0700151 canine glioma MONDO:0700139 NCIT:C129297 NCIT:C134526 canine neoplasm MONDO:0700152 canine hepatocellular carcinoma MONDO:0700139 NCIT:C129298 NCIT:C134526 canine neoplasm MONDO:0700153 canine lung adenocarcinoma MONDO:0700139 NCIT:C129299 NCIT:C134526 canine neoplasm @@ -16015,6 +16013,21 @@ MONDO:0970994 immunodeficiency 120 MONDO:0021094 OMIM:620836 OMIMPS:300755 immun MONDO:0970995 premature ovarian failure 24 MONDO:0019852 OMIM:620840 OMIMPS:311360 inherited primary ovarian failure MONDO:0970999 spermatogenic failure 92 MONDO:0004983 OMIM:620848 OMIMPS:258150 spermatogenic failure MONDO:0971000 spermatogenic failure 93 MONDO:0004983 OMIM:620849 OMIMPS:258150 spermatogenic failure +MONDO:0971001 immunodeficiency 121 with autoinflammation MONDO:0021094 OMIM:620807 OMIMPS:300755 immunodeficiency disease +MONDO:0971002 spermatogenic failure 94 MONDO:0004983 OMIM:620850 OMIMPS:258150 spermatogenic failure +MONDO:0971004 amyloidosis, hereditary systemic 1 MONDO:0007100 OMIM:105210 OMIMPS:105210 familial amyloid neuropathy +MONDO:0971005 MHC class II deficiency 1 MONDO:0008855 OMIM:209920 OMIMPS:209920 MHC class II deficiency +MONDO:0971006 MHC class I deficiency 1 MONDO:0011476 OMIM:604571 OMIMPS:604571 MHC class I deficiency +MONDO:0971007 neuroocular syndrome 1 MONDO:0859193 OMIM:619539 OMIMPS:619539 neuroocular syndrome +MONDO:0971008 amyloidosis, hereditary systemic 3 MONDO:0007100 OMIM:620657 OMIMPS:105210 familial amyloid neuropathy +MONDO:0971009 amyloidosis, hereditary systemic 5 MONDO:0007100 OMIM:620658 OMIMPS:105210 familial amyloid neuropathy +MONDO:0971010 amyloidosis, hereditary systemic 6 MONDO:0007100 OMIM:620659 OMIMPS:105210 familial amyloid neuropathy +MONDO:0971011 MHC class I deficiency 2 MONDO:0011476 OMIM:620813 OMIMPS:604571 MHC class I deficiency +MONDO:0971012 MHC class I deficiency 3 MONDO:0011476 OMIM:620814 OMIMPS:604571 MHC class I deficiency +MONDO:0971013 MHC class II deficiency 2 MONDO:0008855 OMIM:620815 OMIMPS:209920 MHC class II deficiency +MONDO:0971014 MHC class II deficiency 3 MONDO:0008855 OMIM:620816 OMIMPS:209920 MHC class II deficiency +MONDO:0971015 MHC class II deficiency 4 MONDO:0008855 OMIM:620817 OMIMPS:209920 MHC class II deficiency +MONDO:0971016 MHC class II deficiency 5 MONDO:0008855 OMIM:620818 OMIMPS:209920 MHC class II deficiency MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial @@ -20782,5 +20795,16 @@ MONDO:0968987 extramedullary conus spinal cord lipoma MONDO:0958350 Orphanet:645 MONDO:0968988 saccular spinal dysraphism with a stalk to the dome MONDO:0017069 Orphanet:645319 Orphanet:268744 spina bifida cystica MONDO:0968988 saccular spinal dysraphism with a stalk to the dome MONDO:0958345 Orphanet:645319 Orphanet:645196 limited dorsal myeloschisis MONDO:0968989 non-saccular limited dorsal myeloschisis MONDO:0958345 Orphanet:645343 Orphanet:645196 limited dorsal myeloschisis +MONDO:0968990 genetic central precocious puberty in male MONDO:0958356 Orphanet:650097 Orphanet:650087 primary central precocious puberty in male +MONDO:0968991 non-genetic central precocious puberty in male MONDO:0958356 Orphanet:650102 Orphanet:650087 primary central precocious puberty in male +MONDO:0970957 terminal extramedullary conus spinal cord lipoma MONDO:0968987 Orphanet:645288 Orphanet:645297 extramedullary conus spinal cord lipoma +MONDO:0970958 transitional extramedullary conus spinal cord lipoma MONDO:0968987 Orphanet:645291 Orphanet:645297 extramedullary conus spinal cord lipoma +MONDO:0970959 posterior extramedullary conus spinal cord lipoma MONDO:0968987 Orphanet:645294 Orphanet:645297 extramedullary conus spinal cord lipoma +MONDO:0970960 lipomatous non-saccular limited dorsal myeloschisis MONDO:0968989 Orphanet:645300 Orphanet:645343 non-saccular limited dorsal myeloschisis +MONDO:0970961 fibroneural non-saccular limited dorsal myeloschisis MONDO:0968989 Orphanet:645310 Orphanet:645343 non-saccular limited dorsal myeloschisis +MONDO:0970962 terminal myelocystocele MONDO:0017077 Orphanet:645337 Orphanet:268813 myelocystocele +MONDO:0970962 terminal myelocystocele MONDO:0968988 Orphanet:645337 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome +MONDO:0970963 saccular limited dorsal myeloschisis MONDO:0968988 Orphanet:645354 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome +MONDO:0970964 myelic limited dorsal malformation MONDO:0968988 Orphanet:645378 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome MONDO:8000008 Martsolf syndrome 1 MONDO:0015159 Orphanet:1387 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0017574 Orphanet:99811 Orphanet:2978 chronic intestinal pseudoobstruction diff --git a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv index 1982694c..73a6164e 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -6332,7 +6332,6 @@ MONDO:0006782 MONDO:0002654 True hemometra uterine disorder UNSUPPORTED-MISSING MONDO:0006783 MONDO:0002076 True hemopneumothorax pneumothorax UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006786 MONDO:0002405 True hepatic vein thrombosis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006787 MONDO:0021489 True hidrocystoma benign neoplasm of sweat gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006788 MONDO:0000365 True hydrophthalmos primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006790 MONDO:0002220 True hypercementosis tooth hard tissue disease SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006792 MONDO:0002610 True hyperglobulinemic purpura purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006794 MONDO:0000605 True hypersensitivity vasculitis hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -13200,7 +13199,6 @@ MONDO:0016032 MONDO:0019713 True femoral agenesis/hypoplasia non-syndromic limb MONDO:0016033 MONDO:0002254 True Cornelia de Lange syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016033 MONDO:0003847 True Cornelia de Lange syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016033 MONDO:0015159 True Cornelia de Lange syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016033 MONDO:0018234 True Cornelia de Lange syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016033 MONDO:0019054 True Cornelia de Lange syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016035 MONDO:0003429 True Nelson syndrome functioning pituitary gland adenoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016037 MONDO:0005031 True superficial Fibromatosis fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18293,7 +18291,6 @@ MONDO:0700145 MONDO:0700139 True canine lymphoma canine neoplasm UNSUPPORTED-MIS MONDO:0700147 MONDO:0700139 True canine histiocytic sarcoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700148 MONDO:0700139 True canine transitional cell carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700149 MONDO:0700139 True canine sarcoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700150 MONDO:0700139 True canine mastocytoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700151 MONDO:0700139 True canine glioma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700152 MONDO:0700139 True canine hepatocellular carcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700153 MONDO:0700139 True canine lung adenocarcinoma canine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18912,15 +18909,41 @@ MONDO:0968987 MONDO:0958350 True extramedullary conus spinal cord lipoma conus s MONDO:0968988 MONDO:0017069 True saccular spinal dysraphism with a stalk to the dome spina bifida cystica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968988 MONDO:0958345 True saccular spinal dysraphism with a stalk to the dome limited dorsal myeloschisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968989 MONDO:0958345 True non-saccular limited dorsal myeloschisis limited dorsal myeloschisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0968990 MONDO:0958356 True genetic central precocious puberty in male primary central precocious puberty in male UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0968991 MONDO:0958356 True non-genetic central precocious puberty in male primary central precocious puberty in male UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0970943 MONDO:0004983 True spermatogenic failure, x-linked, 8 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0970945 MONDO:0100062 True developmental and epileptic encephalopathy 116 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0970950 MONDO:0010002 True Rothmund-Thomson syndrome, type 4 Rothmund-Thomson syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0970952 MONDO:0004983 True spermatogenic failure 91 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0970957 MONDO:0968987 True terminal extramedullary conus spinal cord lipoma extramedullary conus spinal cord lipoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0970958 MONDO:0968987 True transitional extramedullary conus spinal cord lipoma extramedullary conus spinal cord lipoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0970959 MONDO:0968987 True posterior extramedullary conus spinal cord lipoma extramedullary conus spinal cord lipoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0970960 MONDO:0968989 True lipomatous non-saccular limited dorsal myeloschisis non-saccular limited dorsal myeloschisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0970961 MONDO:0968989 True fibroneural non-saccular limited dorsal myeloschisis non-saccular limited dorsal myeloschisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0970962 MONDO:0017077 True terminal myelocystocele myelocystocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0970962 MONDO:0968988 True terminal myelocystocele saccular spinal dysraphism with a stalk to the dome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0970963 MONDO:0968988 True saccular limited dorsal myeloschisis saccular spinal dysraphism with a stalk to the dome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0970964 MONDO:0968988 True myelic limited dorsal malformation saccular spinal dysraphism with a stalk to the dome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0970993 MONDO:0021094 True immunodeficiency 119 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0970994 MONDO:0021094 True immunodeficiency 120 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0970995 MONDO:0019852 True premature ovarian failure 24 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0970999 MONDO:0004983 True spermatogenic failure 92 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971000 MONDO:0004983 True spermatogenic failure 93 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971001 MONDO:0021094 True immunodeficiency 121 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971002 MONDO:0004983 True spermatogenic failure 94 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971004 MONDO:0007100 True amyloidosis, hereditary systemic 1 familial amyloid neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971005 MONDO:0008855 True MHC class II deficiency 1 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971006 MONDO:0011476 True MHC class I deficiency 1 MHC class I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971007 MONDO:0859193 True neuroocular syndrome 1 neuroocular syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971008 MONDO:0007100 True amyloidosis, hereditary systemic 3 familial amyloid neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971009 MONDO:0007100 True amyloidosis, hereditary systemic 5 familial amyloid neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971010 MONDO:0007100 True amyloidosis, hereditary systemic 6 familial amyloid neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971011 MONDO:0011476 True MHC class I deficiency 2 MHC class I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971012 MONDO:0011476 True MHC class I deficiency 3 MHC class I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971013 MONDO:0008855 True MHC class II deficiency 2 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971014 MONDO:0008855 True MHC class II deficiency 3 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971015 MONDO:0008855 True MHC class II deficiency 4 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971016 MONDO:0008855 True MHC class II deficiency 5 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000006 MONDO:0015134 True WHIM syndrome 1 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000006 MONDO:0023880 True WHIM syndrome 1 WHIM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000008 MONDO:0015159 True Martsolf syndrome 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19100,7 +19123,7 @@ MONDO:0000355 MONDO:0019952 False Ullrich congenital muscular dystrophy congenit MONDO:0000358 MONDO:0003847 False orofacial cleft hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000358 MONDO:0023369 False orofacial cleft disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000359 MONDO:0003847 False spondylocostal dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0000365 MONDO:0020366 False primary congenital glaucoma congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000365 MONDO:0020366 False primary congenital glaucoma congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000367 MONDO:0024271 False taeniasis intestinal helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000367 MONDO:0042488 False taeniasis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000373 MONDO:0003220 False gall bladder carcinoma in situ gallbladder carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -33137,7 +33160,7 @@ MONDO:0700146 MONDO:1010961 False canine prostate carcinoma prostate cancer, dog MONDO:0700147 MONDO:1011319 False canine histiocytic sarcoma hematologic disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700148 MONDO:0700101 False canine transitional cell carcinoma carcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700149 MONDO:0700131 False canine sarcoma sarcoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700150 MONDO:1011441 False canine mastocytoma mast cell tumor, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700150 MONDO:1011555 False canine mastocytoma mast cell tumor, dog UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700151 MONDO:1011336 False canine glioma nervous system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700152 MONDO:0700099 False canine hepatocellular carcinoma adenocarcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700152 MONDO:1011311 False canine hepatocellular carcinoma digestive system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index 7502ada0..e757769c 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -1,17 +1,2 @@ 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:0970998 immunodeficiency 121 with autoinflammation OMIM:620807 MONDO:equivalentTo immunodeficiency 121 with autoinflammation MONDO:0021094 -MONDO:0971002 spermatogenic failure 94 OMIM:620850 MONDO:equivalentTo spermatogenic failure 94 MONDO:0004983 -MONDO:0971004 amyloidosis, hereditary systemic 1 OMIM:105210 MONDO:equivalentTo amyloidosis, hereditary systemic 1 MONDO:0007100 -MONDO:0971005 mhc class 2 deficiency 1 OMIM:209920 MONDO:equivalentTo mhc class 2 deficiency 1 MONDO:0031520|MONDO:0008855 -MONDO:0971006 mhc class 1 deficiency 1 OMIM:604571 MONDO:equivalentTo mhc class 1 deficiency 1 MONDO:0011476 -MONDO:0971007 neuroocular syndrome 1 OMIM:619539 MONDO:equivalentTo neuroocular syndrome 1 MONDO:0859193 -MONDO:0971008 amyloidosis, hereditary systemic 3 OMIM:620657 MONDO:equivalentTo amyloidosis, hereditary systemic 3 MONDO:0007100 -MONDO:0971009 amyloidosis, hereditary systemic 5 OMIM:620658 MONDO:equivalentTo amyloidosis, hereditary systemic 5 MONDO:0007100 -MONDO:0971010 amyloidosis, hereditary systemic 6 OMIM:620659 MONDO:equivalentTo amyloidosis, hereditary systemic 6 MONDO:0007100 -MONDO:0971011 mhc class 1 deficiency 2 OMIM:620813 MONDO:equivalentTo mhc class 1 deficiency 2 MONDO:0011476 -MONDO:0971012 mhc class 1 deficiency 3 OMIM:620814 MONDO:equivalentTo mhc class 1 deficiency 3 MONDO:0011476 -MONDO:0971013 mhc class 2 deficiency 2 OMIM:620815 MONDO:equivalentTo mhc class 2 deficiency 2 MONDO:0008855 -MONDO:0971014 mhc class 2 deficiency 3 OMIM:620816 MONDO:equivalentTo mhc class 2 deficiency 3 MONDO:0008855 -MONDO:0971015 mhc class 2 deficiency 4 OMIM:620817 MONDO:equivalentTo mhc class 2 deficiency 4 MONDO:0008855 -MONDO:0971016 mhc class 2 deficiency 5 OMIM:620818 MONDO:equivalentTo mhc class 2 deficiency 5 MONDO:0008855 diff --git a/src/ontology/slurp/ordo.tsv b/src/ontology/slurp/ordo.tsv index 94350ddc..4428d503 100644 --- a/src/ontology/slurp/ordo.tsv +++ b/src/ontology/slurp/ordo.tsv @@ -1,12 +1,2 @@ mondo_id mondo_label xref xref_source original_label definition parents subset ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % -MONDO:0968990 genetic central precocious puberty in male Orphanet:650097 MONDO:equivalentTo Genetic central precocious puberty in male MONDO:8000031|MONDO:0958356 subtype of a disorder -MONDO:0968991 non-genetic central precocious puberty in male Orphanet:650102 MONDO:equivalentTo Non-genetic central precocious puberty in male MONDO:0958356|MONDO:8000031 subtype of a disorder -MONDO:0970957 terminal extramedullary conus spinal cord lipoma Orphanet:645288 MONDO:equivalentTo Terminal extramedullary conus spinal cord lipoma A rare form of extramedullary conus region spinal cord lipoma characterized by its location, extending from the poorly delineated tip of the conus. MONDO:0968987|MONDO:8000031 subtype of a disorder -MONDO:0970958 transitional extramedullary conus spinal cord lipoma Orphanet:645291 MONDO:equivalentTo Transitional extramedullary conus spinal cord lipoma "A rare form of extramedullary conus region spinal cord lipoma characterized by a location at the posterior surface of the conus and its tip. i.e-""transitional"" between posterior and terminal conus region spinal cord lipoma." MONDO:0968987|MONDO:8000031 subtype of a disorder -MONDO:0970959 posterior extramedullary conus spinal cord lipoma Orphanet:645294 MONDO:equivalentTo Posterior extramedullary conus spinal cord lipoma A rare form of conus region spinal cord lipoma characterized by its location where the interface between the lipoma and the spinal cord is strictcly above the level of the tip of the conus. The tip of the conus is readily delineated. MONDO:0968987|MONDO:8000031 subtype of a disorder -MONDO:0970960 lipomatous non-saccular limited dorsal myeloschisis Orphanet:645300 MONDO:equivalentTo Lipomatous non-saccular limited dorsal myeloschisis A rare non-saccular limited dorsal myeloschisis histologically characterized by skin tissue with a jagged depression of squamous epithelium continued to subcutaneous mature adipose tissue with loose connective tissue. GFAP-immunopositive glial cells are embedded in the subcutaneous lipoma. The extradural and intradural stalk have cord-like fibrocollagenous tissue containing adipose tissue, peripheral nerve fibers, clusters of melanocytes, and skeletal muscle fibers. MONDO:0968989|MONDO:8000031 subtype of a disorder -MONDO:0970961 fibroneural non-saccular limited dorsal myeloschisis Orphanet:645310 MONDO:equivalentTo Fibroneural non-saccular limited dorsal myeloschisis A rare non-saccular limited dorsal myeloschisis, in which the stalk histology is characterized by skin tissue with dermo-epidermal epithelium in continuity with a subcutaneous fibrocollagenous tract containing various ectopic tissues. MONDO:8000031|MONDO:0968989 subtype of a disorder -MONDO:0970962 terminal myelocystocele Orphanet:645337 MONDO:equivalentTo Terminal myelocystocele A rare closed spinal dysraphism characterized by a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). MONDO:0968988|MONDO:8000034|MONDO:8000030|MONDO:0017077 disorder -MONDO:0970963 saccular limited dorsal myeloschisis Orphanet:645354 MONDO:equivalentTo Saccular limited dorsal myeloschisis A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present. MONDO:0968988|MONDO:8000034|MONDO:8000030 disorder -MONDO:0970964 myelic limited dorsal malformation Orphanet:645378 MONDO:equivalentTo Myelic limited dorsal malformation A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulated spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized. MONDO:0968988|MONDO:8000034|MONDO:8000030 disorder diff --git a/src/scripts/lexmatch-sssom-compare.py b/src/scripts/lexmatch-sssom-compare.py index e6b0da03..7d0fc2dc 100644 --- a/src/scripts/lexmatch-sssom-compare.py +++ b/src/scripts/lexmatch-sssom-compare.py @@ -296,6 +296,14 @@ def get_unmapped_df( ] new_df = pd.concat([unmapped_lex_df, unmapped_mondo_df], axis=0) + if 'confidence' not in new_df.columns: + new_df['confidence'] = 0.5 + else: + new_df['confidence'] = pd.to_numeric(new_df['confidence'], errors='coerce') # Convert to numeric, invalid parsing will be NaN + new_df['confidence'] = new_df['confidence'].apply(lambda x: x if 0 <= x <= 1 else 0.5) # Replace out of range values with default + new_df['confidence'].fillna(0.5, inplace=True) # Replace NaN with default value + + new_df.to_csv("check_me_out.sssom.tsv", sep="\t") filtered_new_df = filter_redundant_rows(new_df) return filtered_new_df